CTNNA1 (catenin alpha 1) - Rat Genome Database

Name: CTNNA1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: CTNNA1 (catenin alpha 1) Homo sapiens

Analyze

Symbol:

CTNNA1

Name:

catenin alpha 1

RGD ID:

1348842

HGNC Page

HGNC:2509

Description:

Enables several functions, including beta-catenin binding activity; gamma-catenin binding activity; and vinculin binding activity. Involved in cellular response to indole-3-methanol. Located in cell-cell junction; intracellular membrane-bounded organelle; and plasma membrane. Part of catenin complex. Implicated in patterned macular dystrophy 2. Biomarker of cervix uteri carcinoma in situ; invasive lobular carcinoma; prostate cancer; transitional cell carcinoma; and urinary system cancer (multiple).

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

alpha E-catenin; alpha-catenin; alpha-E-catenin; alphaE-catenin; cadherin-associated protein,102kDa; CAP102; catenin (cadherin-associated protein), alpha 1; catenin (cadherin-associated protein), alpha 1, 102kDa; catenin alpha-1; FLJ36832; FLJ52416; MDBS2; MDPT2; renal carcinoma antigen NY-REN-13

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ctnna1 (catenin alpha 1)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ctnna1 (catenin alpha 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ctnna1 (catenin alpha 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CTNNA1 (catenin alpha 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	CTNNA1 (catenin alpha 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ctnna1 (catenin alpha 1)	NCBI	Ortholog
Sus scrofa (pig):	CTNNA1 (catenin alpha 1)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CTNNA1 (catenin alpha 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ctnna1 (catenin alpha 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Ctnna2 (catenin alpha 2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Ctnna3 (catenin alpha 3)	HGNC	OrthoMCL
Mus musculus (house mouse):	Lrrtm2 (leucine rich repeat transmembrane neuronal 2)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Lrrtm2 (leucine rich repeat transmembrane neuronal 2)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Mavs (mitochondrial antiviral signaling protein)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ctnna1 (catenin alpha 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ctnna1 (catenin alpha 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ctnna1 (catenin (cadherin-associated protein), alpha 1)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	alpha-Cat	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	hmp-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ctnna1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ctnna1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ctnna1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

Related Pseudogenes:

CTNNA1P1

Allele / Splice:

See ClinVar data

Candidate Gene For:

PRSTS211_H

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	138,610,967 - 138,935,034 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	138,089,114 - 138,270,723 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	138,117,006 - 138,298,622 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	138,117,005 - 138,298,621	NCBI
Celera	5	134,210,957 - 134,392,494 (+)	NCBI		Celera
Cytogenetic Map	5	q31.2	NCBI
HuRef	5	133,278,985 - 133,460,517 (+)	NCBI		HuRef
CHM1_1	5	137,521,762 - 137,703,280 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute myeloid leukemia (EXP)

autosomal dominant intellectual developmental disorder 31 (IAGP)

Breast Neoplasms (IEP)

cervix uteri carcinoma in situ (IEP)

colorectal cancer (IAGP)

congenital fibrosis of the extraocular muscles (IAGP)

Craniosynostosis Syndrome, Autosomal Recessive (IAGP)

Endometrial Neoplasms (IEP)

esophageal cancer (ISO)

familial adenomatous polyposis 1 (IAGP)

fundus dystrophy (IAGP)

gastrointestinal stromal tumor (EXP)

genetic disease (IAGP)

hereditary breast ovarian cancer syndrome (IAGP)

hereditary diffuse gastric cancer (IAGP)

hereditary mixed polyposis syndrome 1 (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

invasive lobular carcinoma (IEP)

lung carcinoma (ISO)

Lymphatic Metastasis (IEP)

myelodysplastic syndrome (EXP)

Neurodevelopmental Disorders (IAGP)

Ovarian Neoplasms (IEP)

patterned macular dystrophy (EXP)

patterned macular dystrophy 2 (IAGP,ISS)

prostate cancer (IEP)

renal cell carcinoma (IEP)

schizophrenia (IAGP)

STING-associated vasculopathy with onset in infancy (IAGP)

transitional cell carcinoma (IEP)

urinary bladder cancer (IEP)

Uterine Cervical Neoplasms (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

1-chloro-2,4-dinitrobenzene (EXP)

17beta-hydroxy-5alpha-androstan-3-one (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-methylcholanthrene (EXP)

4,4'-sulfonyldiphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

acrylamide (ISO)

all-trans-retinoic acid (EXP,ISO)

alpha-pinene (EXP)

amiodarone (ISO)

ammonium chloride (ISO)

arsane (ISO)

arsenic atom (ISO)

arsenous acid (EXP)

atrazine (EXP)

benzbromarone (ISO)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-chloroethyl) sulfide (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

calcitriol (EXP)

cisplatin (ISO)

clofibrate (ISO)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

corticosterone (ISO)

coumarin (EXP)

cyclosporin A (EXP)

deoxynivalenol (EXP)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP,ISO)

elemental selenium (EXP)

ethanol (ISO)

fenamidone (ISO)

fenthion (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

fumonisin B1 (ISO)

geldanamycin (EXP)

glafenine (ISO)

haloperidol (EXP)

hydrogen peroxide (EXP,ISO)

inulin (ISO)

ivermectin (EXP)

jaspamide (ISO)

L-ethionine (ISO)

latrunculin A (ISO)

lead nitrate (ISO)

lipopolysaccharide (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methidathion (ISO)

methotrexate (EXP)

methylazoxymethanol (ISO)

methylmercury(1+) (EXP)

microcystin-LR (ISO)

mitomycin C (EXP)

N-ethyl-N-nitrosourea (ISO)

ochratoxin A (EXP,ISO)

omeprazole (ISO)

oxaliplatin (ISO)

ozone (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

quercetin (EXP)

resveratrol (EXP)

SB 431542 (EXP)

selenium atom (EXP)

sodium dichromate (EXP)

sodium fluoride (ISO)

Soman (ISO)

sulfur dioxide (ISO)

sunitinib (EXP)

taraxasterol (EXP)

tert-butyl hydroperoxide (EXP)

thimerosal (EXP)

thioacetamide (ISO)

topotecan (ISO)

tributylstannane (EXP)

Tributyltin oxide (EXP)

trimellitic anhydride (ISO)

tungsten (ISO)

tunicamycin (ISO)

valproic acid (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apical junction assembly (IEA,ISO,NAS)

apoptotic process (IEA,ISO)

axon regeneration (IEA,ISO)

cell adhesion (IEA,NAS)

cell migration (IBA,IEA)

cell motility (IEA,ISO)

cell-cell adhesion (IBA,IEA)

cellular response to indole-3-methanol (IDA)

epithelial cell-cell adhesion (IEA,ISO)

establishment or maintenance of cell polarity (IEA,ISO)

extrinsic apoptotic signaling pathway in absence of ligand (IEA,ISO)

gap junction assembly (IEA,ISO)

integrin-mediated signaling pathway (IEA,ISO)

male gonad development (IEA,ISO)

negative regulation of apoptotic process (IEA,ISO)

negative regulation of cell motility (IEA,ISO)

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (IEA,ISO)

negative regulation of integrin-mediated signaling pathway (IEA,ISO)

negative regulation of neuroblast proliferation (IEA,ISO)

negative regulation of protein localization to nucleus (IEA,ISS)

neuroblast proliferation (IEA,ISO)

odontogenesis of dentin-containing tooth (IEA,ISO)

ovarian follicle development (IEA,ISO)

positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (IEA,ISO)

positive regulation of smoothened signaling pathway (IEA,ISO)

protein localization (IEA,ISO)

regulation of cell population proliferation (IEA,ISO)

response to estrogen (IEA,ISO)

response to organic cyclic compound (IEA,ISO)

smoothened signaling pathway (IEA,ISO)

Cellular Component

acrosomal vesicle (IEA,ISO)

actin cytoskeleton (IEA)

adherens junction (IBA,IEA,ISO)

anchoring junction (IEA)

catenin complex (IBA,IDA,IEA)

cell junction (IDA)

cell-cell junction (IDA,IEA,ISO)

cytoplasm (IEA)

cytoskeleton (IEA)

cytosol (TAS)

flotillin complex (IEA)

focal adhesion (HDA)

intercalated disc (IEA)

intracellular membrane-bounded organelle (IDA)

lamellipodium (IEA)

nucleus (IEA)

plasma membrane (IDA,IEA,TAS)

zonula adherens (IEA)

Molecular Function

actin filament binding (IBA,IEA)

beta-catenin binding (IBA,IEA,IPI,ISO)

cadherin binding (HDA,IEA,IPI)

gamma-catenin binding (IPI)

identical protein binding (IEA,IPI)

protein binding (IPI,ISO)

protein-containing complex binding (IEA,ISO)

RNA binding (HDA)

structural molecule activity (IEA)

vinculin binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

arrhythmogenic right ventricular cardiomyopathy pathway (IEA)

E-cadherin signaling pathway (EXP)

endometrial cancer pathway (IEA)

N-cadherin signaling pathway (EXP)

vascular endothelial growth factor signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal dominant inheritance (IAGP)

Colon cancer (IAGP)

Congenital fibrosis of extraocular muscles (IAGP)

Craniosynostosis (IAGP)

Drusen (IAGP)

Foveal hyperpigmentation (IAGP)

Juvenile onset (IAGP)

Middle age onset (IAGP)

Pattern dystrophy of the retina (IAGP)

Reduced visual acuity (IAGP)

Retinal dystrophy (IAGP)

Schizophrenia (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Reduced alpha- and beta-catenin expression predicts shortened survival in local prostate cancer.	Aaltomaa S, etal., Anticancer Res. 2005 Nov-Dec;25(6C):4707-12.
2.	Altered expression of adhesion molecules and epithelial-mesenchymal transition in silica-induced rat lung carcinogenesis.	Blanco D, etal., Lab Invest. 2004 Aug;84(8):999-1012.
3.	E-cadherin and alpha-catenin expression during tumor progression of cervical carcinoma.	Carico E, etal., Gynecol Oncol. 2001 Feb;80(2):156-61.
4.	Expression of E-cadherin, alpha-catenin and beta-catenin in normal ovarian surface epithelium and epithelial ovarian cancers.	Davies BR, etal., Histopathology. 1998 Jan;32(1):69-80.
5.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
6.	The prognostic value of E-cadherin, alpha-, beta-, and gamma-catenin in urothelial cancer of the upper urinary tract.	Kashibuchi K, etal., Eur Urol. 2006 May;49(5):839-45; discussion 845. Epub 2006 Jan 6.
7.	The prognostic value of E-cadherin, alpha-, beta- and gamma-catenin in bladder cancer patients who underwent radical cystectomy.	Kashibuchi K, etal., Int J Urol. 2007 Sep;14(9):789-94.
8.	Altered localization of E-cadherin and alpha-catenin in rat esophageal tumors.	Khare L, etal., Int J Oncol. 1999 Jan;14(1):33-40.
9.	Abnormal alpha-catenin expression in invasive breast cancer correlates with poor patient survival.	Nakopoulou L, etal., Histopathology. 2002 Jun;40(6):536-46.
10.	Expression pattern of adhesion molecules (E-cadherin, alpha-, beta-, gamma-catenin and claudin-7), their influence on survival in primary breast carcinoma, and their corresponding axillary lymph node metastasis.	Park D, etal., APMIS. 2007 Jan;115(1):52-65.
11.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
12.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
15.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16.	Combined E-cadherin, alpha-catenin, and beta-catenin expression is a favorable prognostic factor in endometrial carcinoma.	Scholten AN, etal., Int J Gynecol Cancer. 2006 May-Jun;16(3):1379-85.
17.	Decreased expression of alpha-catenin is associated with poor prognosis of patients with localized renal cell carcinoma.	Shimazui T, etal., Int J Cancer. 1997 Oct 21;74(5):523-8.
18.	An intact overexpressed E-cadherin/alpha,beta-catenin axis characterizes the lymphovascular emboli of inflammatory breast carcinoma.	Tomlinson JS, etal., Cancer Res. 2001 Jul 1;61(13):5231-41.
19.	The prognostic value of E-cadherin and the cadherin-associated molecules alpha-, beta-, gamma-catenin and p120ctn in prostate cancer specific survival: a long-term follow-up study.	van Oort IM, etal., Prostate. 2007 Sep 15;67(13):1432-8.

Additional References at PubMed

PMID:1904011	PMID:1924379	PMID:7542250	PMID:7650039	PMID:7651399	PMID:7706414	PMID:7790378	PMID:7806582	PMID:7890674	PMID:7945318	PMID:7954478	PMID:8188230
PMID:8227214	PMID:8259519	PMID:8323564	PMID:8404069	PMID:9110993	PMID:9168809	PMID:9214391	PMID:9233779	PMID:9266853	PMID:9434630	PMID:9512503	PMID:9700171
PMID:9762469	PMID:10026224	PMID:10381631	PMID:10420987	PMID:10460003	PMID:10508479	PMID:10635315	PMID:10868478	PMID:10910767	PMID:11069925	PMID:11080149	PMID:11179419
PMID:11226248	PMID:11274246	PMID:11883950	PMID:11907041	PMID:11960376	PMID:12003790	PMID:12417594	PMID:12477722	PMID:12477932	PMID:12532469	PMID:12604612	PMID:12640114
PMID:12734196	PMID:12808048	PMID:14517306	PMID:14567991	PMID:14599963	PMID:14625392	PMID:14702039	PMID:14755240	PMID:15294866	PMID:15297182	PMID:15302935	PMID:15342701
PMID:15489334	PMID:15492215	PMID:15541354	PMID:15561718	PMID:15657067	PMID:15695815	PMID:15916880	PMID:15923648	PMID:15948257	PMID:16212417	PMID:16273278	PMID:16322481
PMID:16344560	PMID:16798615	PMID:16807291	PMID:16807684	PMID:16927799	PMID:17052462	PMID:17072306	PMID:17081983	PMID:17098867	PMID:17576040	PMID:17620599	PMID:17668349
PMID:17979184	PMID:18078809	PMID:18093941	PMID:18215130	PMID:18418437	PMID:18566211	PMID:19016843	PMID:19124205	PMID:19458087	PMID:19656157	PMID:19726720	PMID:19745064
PMID:19763817	PMID:19773761	PMID:19826047	PMID:19913121	PMID:19918298	PMID:19941816	PMID:20032304	PMID:20360068	PMID:20371743	PMID:20467437	PMID:20529814	PMID:20529828
PMID:20628086	PMID:20933443	PMID:20936779	PMID:21030692	PMID:21145461	PMID:21244100	PMID:21423176	PMID:21708131	PMID:21832049	PMID:21873635	PMID:21875946	PMID:21900206
PMID:21937720	PMID:22080244	PMID:22381337	PMID:22469663	PMID:22493458	PMID:22571452	PMID:22586326	PMID:22658674	PMID:22750944	PMID:22774602	PMID:22863883	PMID:22939629
PMID:23077317	PMID:23208944	PMID:23292143	PMID:23383273	PMID:23718855	PMID:24189400	PMID:24412244	PMID:24509793	PMID:24685333	PMID:24711643	PMID:25056061	PMID:25153418
PMID:25241761	PMID:25332235	PMID:25437307	PMID:25468996	PMID:25476789	PMID:25483184	PMID:25544563	PMID:25544608	PMID:25737280	PMID:25764135	PMID:25852190	PMID:25894537
PMID:25900982	PMID:25921289	PMID:25963833	PMID:26182300	PMID:26192076	PMID:26209609	PMID:26261181	PMID:26344197	PMID:26472760	PMID:26496610	PMID:26514267	PMID:26618866
PMID:26691986	PMID:26831064	PMID:26972000	PMID:27129146	PMID:27173435	PMID:27273957	PMID:27377895	PMID:27487124	PMID:27634302	PMID:27684187	PMID:27880917	PMID:28031328
PMID:28051089	PMID:28298427	PMID:28348105	PMID:28378594	PMID:28453600	PMID:28514442	PMID:28515276	PMID:28675297	PMID:28712289	PMID:28724667	PMID:28790116	PMID:29045831
PMID:29117863	PMID:29128334	PMID:29162697	PMID:29229926	PMID:29330337	PMID:29449217	PMID:29507755	PMID:29568061	PMID:29720382	PMID:29774524	PMID:30194290	PMID:30480076
PMID:30482882	PMID:30515673	PMID:30575818	PMID:30711629	PMID:30833792	PMID:31073040	PMID:31091453	PMID:31324722	PMID:31332168	PMID:31343991	PMID:31353912	PMID:31478661
PMID:31501420	PMID:31586073	PMID:31591245	PMID:31741433	PMID:31871319	PMID:31950832	PMID:31980649	PMID:32051609	PMID:32129710	PMID:32203420	PMID:32205481	PMID:32322062
PMID:32687490	PMID:32814769	PMID:32969337	PMID:33022573	PMID:33111431	PMID:33137351	PMID:33326660	PMID:33378218	PMID:33497368	PMID:33643786	PMID:33845483	PMID:33957083
PMID:33961781	PMID:34079125	PMID:34133714	PMID:34244482	PMID:34425242	PMID:34591612	PMID:34709727	PMID:35013218	PMID:35013556	PMID:35063084	PMID:35253629	PMID:35271311
PMID:35384245	PMID:35509820	PMID:35696571	PMID:35831314	PMID:35896951	PMID:35914814	PMID:35944360	PMID:35988963	PMID:36038258	PMID:36168628	PMID:36215168	PMID:36526897
PMID:36574265	PMID:36604567	PMID:36634849	PMID:36774506	PMID:36928388	PMID:37381005	PMID:37536630	PMID:37616343	PMID:37689310	PMID:37827155	PMID:38117590	PMID:38297188

Genomics

Comparative Map Data

CTNNA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	138,610,967 - 138,935,034 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	138,089,114 - 138,270,723 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	138,117,006 - 138,298,622 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	138,117,005 - 138,298,621	NCBI
Celera	5	134,210,957 - 134,392,494 (+)	NCBI		Celera
Cytogenetic Map	5	q31.2	NCBI
HuRef	5	133,278,985 - 133,460,517 (+)	NCBI		HuRef
CHM1_1	5	137,521,762 - 137,703,280 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI		T2T-CHM13v2.0

Ctnna1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	35,251,955 - 35,387,829 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	35,251,912 - 35,387,832 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	35,118,902 - 35,254,776 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	35,118,859 - 35,254,779 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	35,278,566 - 35,414,429 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	35,244,886 - 35,380,749 (+)	NCBI		MGSCv36	mm8
Celera	18	35,608,364 - 35,710,407 (+)	NCBI		Celera
Cytogenetic Map	18	B1	NCBI
cM Map	18	18.89	NCBI

Ctnna1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	27,002,330 - 27,135,009 (+)	NCBI		GRCr8
mRatBN7.2	18	26,728,246 - 26,860,911 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	26,728,485 - 26,860,910 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	26,855,902 - 26,988,304 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	27,618,824 - 27,751,220 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	26,953,728 - 27,086,125 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	27,923,229 - 28,055,972 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	27,923,572 - 28,055,960 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	27,633,009 - 27,766,069 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	27,629,915 - 27,769,360 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	27,656,560 - 27,796,004 (+)	NCBI
Celera	18	26,463,736 - 26,596,152 (+)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

Ctnna1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955418	1,592,229 - 1,754,689 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955418	1,592,555 - 1,754,423 (-)	NCBI	ChiLan1.0	ChiLan1.0

CTNNA1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	134,030,560 - 134,208,877 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	132,170,119 - 132,348,741 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	134,134,944 - 134,313,239 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	140,261,883 - 140,438,854 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	140,261,883 - 140,438,547 (+)	Ensembl	panpan1.1		panPan2

CTNNA1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	26,273,322 - 26,459,497 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	26,143,013 - 26,459,091 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	25,040,958 - 25,226,366 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	27,129,159 - 27,315,090 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	26,999,426 - 27,328,806 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	25,836,828 - 26,022,382 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	25,658,855 - 25,844,720 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	26,323,192 - 26,509,271 (+)	NCBI		UU_Cfam_GSD_1.0

Ctnna1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	153,575,485 - 153,790,091 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936531	7,865,820 - 8,037,935 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936531	7,865,907 - 8,036,020 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CTNNA1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	140,682,371 - 140,871,334 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	140,682,776 - 140,869,828 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	146,440,632 - 146,624,719 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CTNNA1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	41,423,504 - 41,599,458 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	41,447,675 - 41,600,190 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	36,284,586 - 36,461,261 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ctnna1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624743	31,512,481 - 31,700,340 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CTNNA1
2543 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	copy number loss	See cases [RCV000052142]	Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32	pathogenic
GRCh38/hg38 5q31.2(chr5:138738648-139442996)x1	copy number loss	See cases [RCV000052579]	Chr5:138738648..139442996 [GRCh38] Chr5:138074337..138778685 [GRCh37] Chr5:138102236..138806584 [NCBI36] Chr5:5q31.2	uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_001290307.1(CTNNA1):c.1297-891C>T	single nucleotide variant	Lung cancer [RCV000095348]	Chr5:138903458 [GRCh38] Chr5:138239147 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.265G>A (p.Glu89Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375206]\|not provided [RCV001312772]	Chr5:138783336 [GRCh38] Chr5:138119025 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.44C>T (p.Pro15Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002327662]\|not provided [RCV001303666]	Chr5:138781968 [GRCh38] Chr5:138117657 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.57G>C (p.Glu19Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357200]\|not provided [RCV001349150]	Chr5:138781981 [GRCh38] Chr5:138117670 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1731G>A (p.Lys577=)	single nucleotide variant	not provided [RCV001493784]	Chr5:138924694 [GRCh38] Chr5:138260383 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1214T>C (p.Ile405Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357196]\|not provided [RCV001348319]	Chr5:138887560 [GRCh38] Chr5:138223249 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1634T>C (p.Ile545Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402847]\|not provided [RCV001303888]	Chr5:138924597 [GRCh38] Chr5:138260286 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	copy number gain	See cases [RCV000133750]	Chr5:135297294..140106003 [GRCh38] Chr5:134632984..139485588 [GRCh37] Chr5:134660883..139465772 [NCBI36] Chr5:5q31.1-31.3	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	copy number gain	See cases [RCV000134725]	Chr5:137836682..140696361 [GRCh38] Chr5:137172371..140075946 [GRCh37] Chr5:137200270..140056130 [NCBI36] Chr5:5q31.2-31.3	pathogenic
GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	copy number gain	See cases [RCV000135679]	Chr5:138179894..139039890 [GRCh38] Chr5:137515583..138375579 [GRCh37] Chr5:137543482..138403478 [NCBI36] Chr5:5q31.2	uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	copy number gain	See cases [RCV000138808]	Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2	pathogenic
NM_001903.5(CTNNA1):c.1810C>A (p.Gln604Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409433]\|not provided [RCV001051922]	Chr5:138925318 [GRCh38] Chr5:138261007 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2226C>G (p.Val742=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014851]\|Patterned macular dystrophy 2 [RCV003754869]\|not provided [RCV000210530]	Chr5:138930863 [GRCh38] Chr5:138266552 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.1293T>G (p.Ile431Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381724]\|Patterned macular dystrophy 2 [RCV000210749]	Chr5:138887639 [GRCh38] Chr5:138223328 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.919G>A (p.Glu307Lys)	single nucleotide variant	Patterned macular dystrophy 2 [RCV000210750]	Chr5:138827575 [GRCh38] Chr5:138163264 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser)	single nucleotide variant	Patterned macular dystrophy 2 [RCV000210752]	Chr5:138827609 [GRCh38] Chr5:138163298 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2011-537A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208885]	Chr5:138929936 [GRCh38] Chr5:138265625 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+6479A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208921]	Chr5:138834197 [GRCh38] Chr5:138169886 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-7760G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208959]	Chr5:138896589 [GRCh38] Chr5:138232278 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-4604G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209024]	Chr5:138881608 [GRCh38] Chr5:138217297 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-9347A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209031]	Chr5:138772576 [GRCh38] Chr5:138108265 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-19813A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209045]	Chr5:138866399 [GRCh38] Chr5:138202088 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+2064T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209070]	Chr5:138906505 [GRCh38] Chr5:138242194 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-2895A>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209086]	Chr5:138914847 [GRCh38] Chr5:138250536 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+2743C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209094]	Chr5:138786115 [GRCh38] Chr5:138121804 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-1229A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209131]	Chr5:138903120 [GRCh38] Chr5:138238809 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+12335G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208892]	Chr5:138795707 [GRCh38] Chr5:138131396 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-20466A>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208896]	Chr5:138865746 [GRCh38] Chr5:138201435 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.105+159G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208917]	Chr5:138782188 [GRCh38] Chr5:138117877 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+31G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208937]	Chr5:138753541 [GRCh38] Chr5:138089230 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+7809A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208947]	Chr5:138835527 [GRCh38] Chr5:138171216 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-5613A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208952]	Chr5:138880599 [GRCh38] Chr5:138216288 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+1759C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208980]	Chr5:138919657 [GRCh38] Chr5:138255346 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+1313T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208987]	Chr5:138919211 [GRCh38] Chr5:138254900 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+8865C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208998]	Chr5:138762375 [GRCh38] Chr5:138098064 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.106-531A>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209002]	Chr5:138782646 [GRCh38] Chr5:138118335 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-8796C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209146]	Chr5:138877416 [GRCh38] Chr5:138213105 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-2943T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209169]	Chr5:138883269 [GRCh38] Chr5:138218958 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-686A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209180]	Chr5:138885526 [GRCh38] Chr5:138221215 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-9465T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209190]	Chr5:138772458 [GRCh38] Chr5:138108147 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-21013G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209240]	Chr5:138865199 [GRCh38] Chr5:138200888 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+23401A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209259]	Chr5:138851119 [GRCh38] Chr5:138186808 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+323G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209363]	Chr5:138753833 [GRCh38] Chr5:138089522 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+2888G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209391]	Chr5:138786260 [GRCh38] Chr5:138121949 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+4690A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209406]	Chr5:138909131 [GRCh38] Chr5:138244820 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+17130A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209040]	Chr5:138844848 [GRCh38] Chr5:138180537 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-2405G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209074]	Chr5:138901944 [GRCh38] Chr5:138237633 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+26918G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209088]	Chr5:138854636 [GRCh38] Chr5:138190325 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-6396G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209101]	Chr5:138897953 [GRCh38] Chr5:138233642 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+20432A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209114]	Chr5:138848150 [GRCh38] Chr5:138183839 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+1346C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209125]	Chr5:138826145 [GRCh38] Chr5:138161834 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+10127C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209129]	Chr5:138763637 [GRCh38] Chr5:138099326 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-903A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209140]	Chr5:138781020 [GRCh38] Chr5:138116709 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-299G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209166]\|not provided [RCV001534100]	Chr5:138887191 [GRCh38] Chr5:138222880 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+4889T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209197]	Chr5:138909330 [GRCh38] Chr5:138245019 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-25416G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209216]	Chr5:138860796 [GRCh38] Chr5:138196485 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+23712T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209220]	Chr5:138851430 [GRCh38] Chr5:138187119 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-9674A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209223]	Chr5:138772249 [GRCh38] Chr5:138107938 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+3208A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209235]	Chr5:138815510 [GRCh38] Chr5:138151199 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-1736A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209271]	Chr5:138822794 [GRCh38] Chr5:138158483 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-25453A>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209280]	Chr5:138860759 [GRCh38] Chr5:138196448 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-10058A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209282]	Chr5:138771865 [GRCh38] Chr5:138107554 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-908C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209440]	Chr5:138781015 [GRCh38] Chr5:138116704 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+23400A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209506]	Chr5:138851118 [GRCh38] Chr5:138186807 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+3189T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209522]	Chr5:138830907 [GRCh38] Chr5:138166596 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-1003C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209581]	Chr5:138903346 [GRCh38] Chr5:138239035 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+5909A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209604]	Chr5:138789281 [GRCh38] Chr5:138124970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.302-1827G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209611]	Chr5:138808211 [GRCh38] Chr5:138143900 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-20411T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209633]	Chr5:138865801 [GRCh38] Chr5:138201490 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-92T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209685]	Chr5:138812091 [GRCh38] Chr5:138147780 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-2820A>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209737]	Chr5:138883392 [GRCh38] Chr5:138219081 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+2270T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209296]	Chr5:138814572 [GRCh38] Chr5:138150261 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+22747T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209308]	Chr5:138850465 [GRCh38] Chr5:138186154 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+16658G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209321]	Chr5:138844376 [GRCh38] Chr5:138180065 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-9414C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209329]	Chr5:138772509 [GRCh38] Chr5:138108198 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-929G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209338]	Chr5:138826586 [GRCh38] Chr5:138162275 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+1291T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209346]	Chr5:138826090 [GRCh38] Chr5:138161779 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-72A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209371]	Chr5:138824458 [GRCh38] Chr5:138160147 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+3204G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209384]	Chr5:138815506 [GRCh38] Chr5:138151195 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-771C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209410]	Chr5:138781152 [GRCh38] Chr5:138116841 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-19050A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209415]	Chr5:138867162 [GRCh38] Chr5:138202851 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+439T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209418]	Chr5:138753949 [GRCh38] Chr5:138089638 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.105+137T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209428]	Chr5:138782166 [GRCh38] Chr5:138117855 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-6852A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209431]	Chr5:138897497 [GRCh38] Chr5:138233186 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+23381C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209458]	Chr5:138851099 [GRCh38] Chr5:138186788 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-6418G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209466]	Chr5:138879794 [GRCh38] Chr5:138215483 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-8121A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209474]	Chr5:138878091 [GRCh38] Chr5:138213780 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+6523A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209480]	Chr5:138834241 [GRCh38] Chr5:138169930 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+10399G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209495]	Chr5:138793771 [GRCh38] Chr5:138129460 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+17518A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209499]	Chr5:138845236 [GRCh38] Chr5:138180925 [GRCh37] Chr5:5q31.2	likely benign
NM_015564.3(LRRTM2):c.*3762A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209513]	Chr5:138869248 [GRCh38] Chr5:138204937 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+246C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209517]	Chr5:138887888 [GRCh38] Chr5:138223577 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+19414A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209541]	Chr5:138847132 [GRCh38] Chr5:138182821 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+9912G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209558]	Chr5:138793284 [GRCh38] Chr5:138128973 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+6635A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209784]	Chr5:138790007 [GRCh38] Chr5:138125696 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-329C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209794]	Chr5:138887161 [GRCh38] Chr5:138222850 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+16654T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209567]	Chr5:138844372 [GRCh38] Chr5:138180061 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+7862G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209569]	Chr5:138895504 [GRCh38] Chr5:138231193 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-287A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209601]	Chr5:138885925 [GRCh38] Chr5:138221614 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+549A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209620]	Chr5:138754059 [GRCh38] Chr5:138089748 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+9131G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209650]	Chr5:138762641 [GRCh38] Chr5:138098330 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-2839C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209658]	Chr5:138883373 [GRCh38] Chr5:138219062 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+3298G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209660]	Chr5:138890940 [GRCh38] Chr5:138226629 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-439C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209670]	Chr5:138887051 [GRCh38] Chr5:138222740 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+2076C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209691]	Chr5:138906517 [GRCh38] Chr5:138242206 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-9363A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209706]	Chr5:138772560 [GRCh38] Chr5:138108249 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.106-335C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209711]	Chr5:138782842 [GRCh38] Chr5:138118531 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-5322T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209731]	Chr5:138880890 [GRCh38] Chr5:138216579 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-11654G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209741]	Chr5:138770269 [GRCh38] Chr5:138105958 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-1207T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209751]	Chr5:138885005 [GRCh38] Chr5:138220694 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+1327A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209756]	Chr5:138826126 [GRCh38] Chr5:138161815 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+558A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209761]	Chr5:138918456 [GRCh38] Chr5:138254145 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-9524C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209798]	Chr5:138772399 [GRCh38] Chr5:138108088 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-2-6669C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209804]	Chr5:138775254 [GRCh38] Chr5:138110943 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.195_198del (p.Glu66fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000210185]	Chr5:138783266..138783269 [GRCh38] Chr5:138118955..138118958 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.301+5248G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209823]	Chr5:138788620 [GRCh38] Chr5:138124309 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1185G>A (p.Leu395=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000210126]\|Patterned macular dystrophy 2 [RCV003474991]\|not provided [RCV000815846]	Chr5:138887531 [GRCh38] Chr5:138223220 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1063-10824C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000208971]	Chr5:138875388 [GRCh38] Chr5:138211077 [GRCh37] Chr5:5q31.2	likely benign
NM_015564.3(LRRTM2):c.4+18T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209651]	Chr5:138874890 [GRCh38] Chr5:138210579 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1991T>G (p.Ile664Arg)	single nucleotide variant	not provided [RCV001367578]	Chr5:138929337 [GRCh38] Chr5:138265026 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1593A>G (p.Gln531=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012333]\|not provided [RCV000229139]	Chr5:138924556 [GRCh38] Chr5:138260245 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity
NM_001903.5(CTNNA1):c.302-7A>G	single nucleotide variant	not provided [RCV000229925]	Chr5:138810031 [GRCh38] Chr5:138145720 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2343A>G (p.Gln781=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015238]\|not provided [RCV000226085]\|not specified [RCV001580049]	Chr5:138932622 [GRCh38] Chr5:138268311 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1782C>T (p.Ala594=)	single nucleotide variant	CTNNA1-related condition [RCV003929954]\|Hereditary cancer-predisposing syndrome [RCV001013137]\|Patterned macular dystrophy 2 [RCV002500777]\|not provided [RCV000231853]	Chr5:138925290 [GRCh38] Chr5:138260979 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His)	single nucleotide variant	CTNNA1-related condition [RCV003919948]\|Hereditary cancer-predisposing syndrome [RCV001024985]\|Patterned macular dystrophy 2 [RCV003754870]\|not provided [RCV000226477]	Chr5:138824559 [GRCh38] Chr5:138160248 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014082]\|not provided [RCV000232380]\|not specified [RCV001699259]	Chr5:138930475 [GRCh38] Chr5:138266164 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.589-5T>C	single nucleotide variant	CTNNA1-related condition [RCV003919947]\|Hereditary cancer-predisposing syndrome [RCV001024651]\|not provided [RCV000232787]\|not specified [RCV001699164]	Chr5:138824525 [GRCh38] Chr5:138160214 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.897G>A (p.Glu299=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372270]\|not provided [RCV000233173]	Chr5:138827553 [GRCh38] Chr5:138163242 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.1845C>T (p.Ser615=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013377]\|not provided [RCV000226813]	Chr5:138925353 [GRCh38] Chr5:138261042 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.732A>C (p.Ile244=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002378985]\|not provided [RCV000229318]	Chr5:138824673 [GRCh38] Chr5:138160362 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1206_1207insCC (p.Val403fs)	insertion	Hereditary breast ovarian cancer syndrome [RCV001374509]	Chr5:138887552..138887553 [GRCh38] Chr5:138223241..138223242 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1161G>A (p.Met387Ile)	single nucleotide variant	not provided [RCV001367727]	Chr5:138887507 [GRCh38] Chr5:138223196 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.118G>T (p.Val40Leu)	single nucleotide variant	not provided [RCV001228680]	Chr5:138783189 [GRCh38] Chr5:138118878 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
NM_001903.5(CTNNA1):c.2043A>G (p.Lys681=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160991]\|not provided [RCV001494485]	Chr5:138930505 [GRCh38] Chr5:138266194 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-114C>G	single nucleotide variant	not provided [RCV001565664]	Chr5:138904235 [GRCh38] Chr5:138239924 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.583C>A (p.Gln195Lys)	single nucleotide variant	not provided [RCV000806292]	Chr5:138812297 [GRCh38] Chr5:138147986 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.703G>T (p.Ala235Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002360978]\|not provided [RCV000806397]	Chr5:138824644 [GRCh38] Chr5:138160333 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.656C>T (p.Pro219Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002360975]\|not provided [RCV000806225]	Chr5:138824597 [GRCh38] Chr5:138160286 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383975]\|Patterned macular dystrophy 2 [RCV001197574]\|Retinal dystrophy [RCV000504773]\|not provided [RCV000801850]	Chr5:138827621 [GRCh38] Chr5:138163310 [GRCh37] Chr5:5q31.2	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
NM_001903.5(CTNNA1):c.588+4_588+5del	deletion	CTNNA1-related condition [RCV003902693]\|Hereditary cancer-predisposing syndrome [RCV001024638]\|Patterned macular dystrophy 2 [RCV002496829]\|not provided [RCV000460424]	Chr5:138812305..138812306 [GRCh38] Chr5:138147994..138147995 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2310G>A (p.Ser770=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015139]\|not provided [RCV000463032]	Chr5:138932589 [GRCh38] Chr5:138268278 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2694C>T (p.Ser898=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002451108]\|not provided [RCV000464705]	Chr5:138934062 [GRCh38] Chr5:138269751 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2204C>G (p.Pro735Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014759]\|not provided [RCV000464946]	Chr5:138930841 [GRCh38] Chr5:138266530 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val)	single nucleotide variant	CTNNA1-related condition [RCV003902692]\|Hereditary cancer-predisposing syndrome [RCV001023984]\|not provided [RCV000465647]\|not specified [RCV001821358]	Chr5:138812250 [GRCh38] Chr5:138147939 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2605T>C (p.Leu869=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436497]\|not provided [RCV000466737]	Chr5:138933973 [GRCh38] Chr5:138269662 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2532A>G (p.Gln844=)	single nucleotide variant	CTNNA1-related condition [RCV003970336]\|Hereditary cancer-predisposing syndrome [RCV001015791]\|not provided [RCV000467237]	Chr5:138933900 [GRCh38] Chr5:138269589 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.1167C>T (p.His389=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010104]\|not provided [RCV000468745]\|not specified [RCV003151072]	Chr5:138887513 [GRCh38] Chr5:138223202 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1688A>G (p.Tyr563Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402270]\|not provided [RCV000469822]	Chr5:138924651 [GRCh38] Chr5:138260340 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.607C>T (p.His203Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024869]\|Patterned macular dystrophy 2 [RCV003476083]\|not provided [RCV000470939]	Chr5:138824548 [GRCh38] Chr5:138160237 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1633A>G (p.Ile545Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168809]\|not provided [RCV001350499]	Chr5:138924596 [GRCh38] Chr5:138260285 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.410G>A (p.Arg137Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002323717]\|Patterned macular dystrophy 2 [RCV003476084]\|not provided [RCV000472749]	Chr5:138810146 [GRCh38] Chr5:138145835 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.540A>C (p.Leu180=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024058]\|not provided [RCV000473454]\|not specified [RCV001579741]	Chr5:138812254 [GRCh38] Chr5:138147943 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1405C>T (p.Leu469=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011352]\|not provided [RCV000473718]	Chr5:138917757 [GRCh38] Chr5:138253446 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2714G>A (p.Ser905Asn)	single nucleotide variant	CTNNA1-related condition [RCV003942554]\|Hereditary cancer-predisposing syndrome [RCV001016384]\|Patterned macular dystrophy 2 [RCV002496828]\|not provided [RCV000473731]	Chr5:138934082 [GRCh38] Chr5:138269771 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.546T>G (p.Pro182=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024154]\|not provided [RCV000475610]	Chr5:138812260 [GRCh38] Chr5:138147949 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2558A>G (p.Asn853Ser)	single nucleotide variant	CTNNA1-related condition [RCV003418184]\|Hereditary cancer-predisposing syndrome [RCV001015956]\|not provided [RCV000476042]	Chr5:138933926 [GRCh38] Chr5:138269615 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1909G>A (p.Glu637Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298487]\|not provided [RCV001365232]	Chr5:138929255 [GRCh38] Chr5:138264944 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1506C>A (p.Val502=)	single nucleotide variant	not provided [RCV000457223]	Chr5:138917858 [GRCh38] Chr5:138253547 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1504G>C (p.Val502Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002393128]\|not provided [RCV001325305]	Chr5:138917856 [GRCh38] Chr5:138253545 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2340G>C (p.Leu780=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002446885]\|not provided [RCV000458829]	Chr5:138932619 [GRCh38] Chr5:138268308 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+10T>G	single nucleotide variant	not provided [RCV000459263]	Chr5:138917908 [GRCh38] Chr5:138253597 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.409C>T (p.Arg137Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021859]\|Patterned macular dystrophy 2 [RCV003476085]\|not provided [RCV000459742]	Chr5:138810145 [GRCh38] Chr5:138145834 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV002231249]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_001903.5(CTNNA1):c.2642del (p.Lys881fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003301442]	Chr5:138934009 [GRCh38] Chr5:138269698 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2554C>G (p.Leu852Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301452]	Chr5:138933922 [GRCh38] Chr5:138269611 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.988C>G (p.Arg330Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301429]\|not provided [RCV003549050]	Chr5:138827644 [GRCh38] Chr5:138163333 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.839A>T (p.Tyr280Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301430]	Chr5:138824780 [GRCh38] Chr5:138160469 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.470T>C (p.Val157Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301431]	Chr5:138812184 [GRCh38] Chr5:138147873 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1582A>G (p.Ile528Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301432]	Chr5:138924545 [GRCh38] Chr5:138260234 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2640C>G (p.Thr880=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301434]	Chr5:138934008 [GRCh38] Chr5:138269697 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1304A>T (p.Asn435Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301435]	Chr5:138904356 [GRCh38] Chr5:138240045 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2017_2018dup (p.Met673fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003301439]\|Hereditary diffuse gastric adenocarcinoma [RCV003455788]	Chr5:138930478..138930479 [GRCh38] Chr5:138266167..138266168 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1568T>C (p.Val523Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301448]\|not provided [RCV003679185]	Chr5:138924531 [GRCh38] Chr5:138260220 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1671C>T (p.Thr557=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301449]	Chr5:138924634 [GRCh38] Chr5:138260323 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2043dup (p.Ala682fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003301450]	Chr5:138930500..138930501 [GRCh38] Chr5:138266189..138266190 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2355C>G (p.Leu785=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301451]	Chr5:138932634 [GRCh38] Chr5:138268323 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.526C>T (p.Gln176Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002345817]\|not provided [RCV000806536]	Chr5:138812240 [GRCh38] Chr5:138147929 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.985C>T (p.Arg329Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381779]\|not provided [RCV000806539]	Chr5:138827641 [GRCh38] Chr5:138163330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.611G>A (p.Arg204His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352382]\|not provided [RCV000806114]	Chr5:138824552 [GRCh38] Chr5:138160241 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_001903.5(CTNNA1):c.302-286dup	duplication	not provided [RCV001539817]	Chr5:138809742..138809743 [GRCh38] Chr5:138145431..138145432 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2328G>A (p.Leu776=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015202]\|not provided [RCV000871626]	Chr5:138932607 [GRCh38] Chr5:138268296 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-9C>T	single nucleotide variant	not provided [RCV000872691]	Chr5:138824521 [GRCh38] Chr5:138160210 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1317C>T (p.Ser439=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010955]\|not provided [RCV000862973]	Chr5:138904369 [GRCh38] Chr5:138240058 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2514C>T (p.Val838=)	single nucleotide variant	CTNNA1-related condition [RCV003908147]\|Hereditary cancer-predisposing syndrome [RCV001015742]\|not provided [RCV000860858]	Chr5:138933882 [GRCh38] Chr5:138269571 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.1440C>T (p.Ala480=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390986]\|not provided [RCV000941697]	Chr5:138917792 [GRCh38] Chr5:138253481 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1797C>T (p.Ser599=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002399859]\|not provided [RCV000861065]	Chr5:138925305 [GRCh38] Chr5:138260994 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-28C>A	single nucleotide variant	not provided [RCV001647955]	Chr5:138933774 [GRCh38] Chr5:138269463 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.164C>G (p.Ser55Cys)	single nucleotide variant	not provided [RCV001052043]	Chr5:138783235 [GRCh38] Chr5:138118924 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1390-2A>G	single nucleotide variant	not provided [RCV001053164]	Chr5:138917740 [GRCh38] Chr5:138253429 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.535G>A (p.Ala179Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348436]\|not provided [RCV001059944]	Chr5:138812249 [GRCh38] Chr5:138147938 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2053G>A (p.Ala685Thr)	single nucleotide variant	not provided [RCV003315083]	Chr5:138930515 [GRCh38] Chr5:138266204 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2525A>C (p.Lys842Thr)	single nucleotide variant	not provided [RCV001053947]	Chr5:138933893 [GRCh38] Chr5:138269582 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1195G>A (p.Val399Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339279]\|not provided [RCV001055846]	Chr5:138887541 [GRCh38] Chr5:138223230 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1335A>C (p.Glu445Asp)	single nucleotide variant	not provided [RCV001057025]	Chr5:138904387 [GRCh38] Chr5:138240076 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2161A>G (p.Met721Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160466]\|not provided [RCV001057911]	Chr5:138930623 [GRCh38] Chr5:138266312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.823G>A (p.Gly275Arg)	single nucleotide variant	not provided [RCV001057982]	Chr5:138824764 [GRCh38] Chr5:138160453 [GRCh37] Chr5:5q31.2	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_001903.5(CTNNA1):c.2424T>C (p.Val808=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002444978]\|not provided [RCV000884113]	Chr5:138932703 [GRCh38] Chr5:138268392 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+10C>T	single nucleotide variant	not provided [RCV000902754]	Chr5:138929366 [GRCh38] Chr5:138265055 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-6T>C	single nucleotide variant	not provided [RCV000877294]	Chr5:138904343 [GRCh38] Chr5:138240032 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2511C>T (p.Tyr837=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427144]\|not provided [RCV000867454]	Chr5:138933879 [GRCh38] Chr5:138269568 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1923T>C (p.Ser641=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409263]\|not provided [RCV000951396]	Chr5:138929269 [GRCh38] Chr5:138264958 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2388C>G (p.Val796=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307654]\|not provided [RCV000877269]	Chr5:138932667 [GRCh38] Chr5:138268356 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.867C>T (p.Ile289=)	single nucleotide variant	CTNNA1-related condition [RCV003955623]\|Hereditary cancer-predisposing syndrome [RCV002442810]\|not provided [RCV000864958]	Chr5:138827523 [GRCh38] Chr5:138163212 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2559C>T (p.Asn853=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015928]\|not provided [RCV000866633]	Chr5:138933927 [GRCh38] Chr5:138269616 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity
NM_001903.5(CTNNA1):c.606C>T (p.Gly202=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354847]\|not provided [RCV000951484]	Chr5:138824547 [GRCh38] Chr5:138160236 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1632A>C (p.Ala544=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002399898]\|not provided [RCV000866693]	Chr5:138924595 [GRCh38] Chr5:138260284 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-8T>G	single nucleotide variant	not provided [RCV000982934]\|not specified [RCV002249593]	Chr5:138886204 [GRCh38] Chr5:138221893 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.1506C>T (p.Val502=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390787]\|not provided [RCV000867686]	Chr5:138917858 [GRCh38] Chr5:138253547 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.585A>G (p.Gln195=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024609]\|not provided [RCV000876936]	Chr5:138812299 [GRCh38] Chr5:138147988 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.333C>T (p.Phe111=)	single nucleotide variant	CTNNA1-related condition [RCV003895313]\|Hereditary cancer-predisposing syndrome [RCV002320012]\|not provided [RCV000870178]	Chr5:138810069 [GRCh38] Chr5:138145758 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1089A>G (p.Ala363=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427373]\|not provided [RCV000945276]	Chr5:138886238 [GRCh38] Chr5:138221927 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-9G>A	single nucleotide variant	not provided [RCV000870199]	Chr5:138924501 [GRCh38] Chr5:138260190 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1494C>T (p.Leu498=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390846]\|not provided [RCV000877093]	Chr5:138917846 [GRCh38] Chr5:138253535 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1032G>A (p.Leu344=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390917]\|not provided [RCV000920155]	Chr5:138827688 [GRCh38] Chr5:138163377 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.770A>G (p.Asn257Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026739]\|not provided [RCV000863626]	Chr5:138824711 [GRCh38] Chr5:138160400 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.648G>A (p.Lys216=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354868]\|not provided [RCV000975913]	Chr5:138824589 [GRCh38] Chr5:138160278 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2508C>A (p.Ser836=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427137]\|not provided [RCV000866945]	Chr5:138933876 [GRCh38] Chr5:138269565 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-4G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015518]\|not provided [RCV000867807]	Chr5:138933798 [GRCh38] Chr5:138269487 [GRCh37] Chr5:5q31.2	benign\|likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.681A>T (p.Ala227=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363350]\|not provided [RCV000902758]	Chr5:138824622 [GRCh38] Chr5:138160311 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.108T>C (p.Val36=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002444994]\|not provided [RCV000899133]	Chr5:138783179 [GRCh38] Chr5:138118868 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.687A>G (p.Leu229=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372630]\|not provided [RCV000942533]	Chr5:138824628 [GRCh38] Chr5:138160317 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2493G>A (p.Gln831=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015696]\|not provided [RCV000870703]	Chr5:138933861 [GRCh38] Chr5:138269550 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-5del	deletion	not provided [RCV000928232]	Chr5:138917734 [GRCh38] Chr5:138253423 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2454G>C (p.Leu818=)	single nucleotide variant	not provided [RCV000978919]	Chr5:138933822 [GRCh38] Chr5:138269511 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2304C>G (p.Pro768=)	single nucleotide variant	CTNNA1-related condition [RCV003978037]\|Hereditary cancer-predisposing syndrome [RCV002427286]\|not provided [RCV000921666]	Chr5:138932583 [GRCh38] Chr5:138268272 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1962G>A (p.Thr654=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416050]\|not provided [RCV000871038]	Chr5:138929308 [GRCh38] Chr5:138264997 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2454G>A (p.Leu818=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002444963]\|not provided [RCV000876643]	Chr5:138933822 [GRCh38] Chr5:138269511 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.966G>A (p.Ser322=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372493]\|not provided [RCV000876729]	Chr5:138827622 [GRCh38] Chr5:138163311 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1149C>T (p.Arg383=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454197]\|not provided [RCV000966552]	Chr5:138887495 [GRCh38] Chr5:138223184 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1704C>T (p.Tyr568=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002399888]\|not provided [RCV000865739]	Chr5:138924667 [GRCh38] Chr5:138260356 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1749C>T (p.Val583=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169154]\|not provided [RCV000868890]	Chr5:138925257 [GRCh38] Chr5:138260946 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2649A>G (p.Lys883=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427222]\|not provided [RCV000876842]	Chr5:138934017 [GRCh38] Chr5:138269706 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1263A>G (p.Gln421=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445099]\|not provided [RCV000949222]	Chr5:138887609 [GRCh38] Chr5:138223298 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2517C>T (p.Ala839=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427402]\|not provided [RCV000967034]	Chr5:138933885 [GRCh38] Chr5:138269574 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1974A>G (p.Thr658=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416020]\|not provided [RCV000867277]	Chr5:138929320 [GRCh38] Chr5:138265009 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2154G>A (p.Gln718=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014611]\|not provided [RCV000868130]	Chr5:138930616 [GRCh38] Chr5:138266305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.705A>T (p.Ala235=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363250]\|not provided [RCV000868963]	Chr5:138824646 [GRCh38] Chr5:138160335 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2046G>A (p.Ala682=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416033]\|not provided [RCV000868978]	Chr5:138930508 [GRCh38] Chr5:138266197 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.591A>G (p.Glu197=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354845]\|not provided [RCV000950957]	Chr5:138824532 [GRCh38] Chr5:138160221 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-5T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445032]\|not provided [RCV000924854]	Chr5:138932573 [GRCh38] Chr5:138268262 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.834G>A (p.Leu278=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307770]\|not provided [RCV000977129]	Chr5:138824775 [GRCh38] Chr5:138160464 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.960C>T (p.Ala320=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019569]\|not provided [RCV000878652]	Chr5:138827616 [GRCh38] Chr5:138163305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+2dup	duplication	not provided [RCV001071123]	Chr5:138810205..138810206 [GRCh38] Chr5:138145894..138145895 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1991T>C (p.Ile664Thr)	single nucleotide variant	not provided [RCV001037474]	Chr5:138929337 [GRCh38] Chr5:138265026 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.53_54dup (p.Glu19Ter)	duplication	not provided [RCV001043751]	Chr5:138781976..138781977 [GRCh38] Chr5:138117665..138117666 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.323C>T (p.Ala108Val)	single nucleotide variant	not provided [RCV001050465]	Chr5:138810059 [GRCh38] Chr5:138145748 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.982G>T (p.Asp328Tyr)	single nucleotide variant	not provided [RCV001044169]	Chr5:138827638 [GRCh38] Chr5:138163327 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.859-9T>G	single nucleotide variant	not provided [RCV001050696]	Chr5:138827506 [GRCh38] Chr5:138163195 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1086T>G (p.Asp362Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002429648]\|Patterned macular dystrophy 2 [RCV003473647]\|not provided [RCV001052167]	Chr5:138886235 [GRCh38] Chr5:138221924 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.511C>A (p.Gln171Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380821]\|not provided [RCV001052877]	Chr5:138812225 [GRCh38] Chr5:138147914 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-5C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160259]\|not provided [RCV001040238]	Chr5:138933797 [GRCh38] Chr5:138269486 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001903.5(CTNNA1):c.160C>G (p.Arg54Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400241]\|not provided [RCV001040736]	Chr5:138783231 [GRCh38] Chr5:138118920 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1790C>T (p.Ala597Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400244]\|not provided [RCV001041201]	Chr5:138925298 [GRCh38] Chr5:138260987 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.570G>A (p.Met190Ile)	single nucleotide variant	not provided [RCV001064507]	Chr5:138812284 [GRCh38] Chr5:138147973 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.327A>T (p.Gly109=)	single nucleotide variant	not provided [RCV001064545]	Chr5:138810063 [GRCh38] Chr5:138145752 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1756C>T (p.Arg586Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411603]\|Patterned macular dystrophy 2 [RCV003473695]\|not provided [RCV001068693]	Chr5:138925264 [GRCh38] Chr5:138260953 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434G>A (p.Val812Met)	single nucleotide variant	not provided [RCV001046722]	Chr5:138933802 [GRCh38] Chr5:138269491 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003316943]	Chr5:138929252 [GRCh38] Chr5:138264941 [GRCh37] Chr5:5q31.2	pathogenic
NC_000005.10:g.(?_138810028)_(138827728_?)del	deletion	not provided [RCV001032680]	Chr5:138145717..138163417 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455173]\|not provided [RCV001042239]	Chr5:138810097 [GRCh38] Chr5:138145786 [GRCh37] Chr5:5q31.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001903.5(CTNNA1):c.2016C>G (p.Ile672Met)	single nucleotide variant	not provided [RCV001047075]	Chr5:138930478 [GRCh38] Chr5:138266167 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1318A>G (p.Ile440Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003372975]\|Patterned macular dystrophy 2 [RCV003473685]\|not provided [RCV001065140]	Chr5:138904370 [GRCh38] Chr5:138240059 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1280C>T (p.Ala427Val)	single nucleotide variant	Retinal dystrophy [RCV001073862]	Chr5:138887626 [GRCh38] Chr5:138223315 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.130A>G (p.Ser44Gly)	single nucleotide variant	not provided [RCV001034953]	Chr5:138783201 [GRCh38] Chr5:138118890 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1046C>T (p.Ser349Leu)	single nucleotide variant	CTNNA1-related condition [RCV003413841]\|Hereditary cancer-predisposing syndrome [RCV002400272]\|not provided [RCV001048424]	Chr5:138827702 [GRCh38] Chr5:138163391 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2665A>C (p.Lys889Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160375]\|not provided [RCV001048453]	Chr5:138934033 [GRCh38] Chr5:138269722 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.10:g.(?_138781925)_(138934089_?)dup	duplication	not provided [RCV001031306]	Chr5:138117614..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.389C>T (p.Ala130Val)	single nucleotide variant	not provided [RCV001035128]	Chr5:138810125 [GRCh38] Chr5:138145814 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.479G>T (p.Gly160Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003372955]\|not provided [RCV001048621]	Chr5:138812193 [GRCh38] Chr5:138147882 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1148G>A (p.Arg383His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002451201]\|not provided [RCV001049312]	Chr5:138887494 [GRCh38] Chr5:138223183 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.967T>C (p.Ser323Pro)	single nucleotide variant	not provided [RCV001070807]	Chr5:138827623 [GRCh38] Chr5:138163312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1515T>G (p.Ile505Met)	single nucleotide variant	not provided [RCV001043368]	Chr5:138917867 [GRCh38] Chr5:138253556 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.228_229del (p.Gly76_Asp77insTer)	deletion	not provided [RCV001043739]	Chr5:138783296..138783297 [GRCh38] Chr5:138118985..138118986 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.350C>G (p.Ser117Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002453816]\|Patterned macular dystrophy 2 [RCV003472395]\|not provided [RCV000807757]	Chr5:138810086 [GRCh38] Chr5:138145775 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.362G>C (p.Arg121Pro)	single nucleotide variant	not provided [RCV000791793]	Chr5:138810098 [GRCh38] Chr5:138145787 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.251A>G (p.Gln84Arg)	single nucleotide variant	not provided [RCV000808444]	Chr5:138783322 [GRCh38] Chr5:138119011 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002336639]\|not provided [RCV000805887]	Chr5:138812179 [GRCh38] Chr5:138147868 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.859-7T>G	single nucleotide variant	not provided [RCV000807085]	Chr5:138827508 [GRCh38] Chr5:138163197 [GRCh37] Chr5:5q31.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001903.5(CTNNA1):c.2337C>G (p.Tyr779Ter)	single nucleotide variant	not provided [RCV000792377]	Chr5:138932616 [GRCh38] Chr5:138268305 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.106-4T>C	single nucleotide variant	not provided [RCV000815227]	Chr5:138783173 [GRCh38] Chr5:138118862 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1637G>A (p.Arg546Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390627]\|not provided [RCV000809730]	Chr5:138924600 [GRCh38] Chr5:138260289 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+3A>G	single nucleotide variant	not provided [RCV000815844]	Chr5:138782032 [GRCh38] Chr5:138117721 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1611C>T (p.Gly537=)	single nucleotide variant	not provided [RCV000941822]	Chr5:138924574 [GRCh38] Chr5:138260263 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-7T>C	single nucleotide variant	not provided [RCV000930548]	Chr5:138904342 [GRCh38] Chr5:138240031 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1911G>A (p.Glu637=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013667]\|not provided [RCV000939114]	Chr5:138929257 [GRCh38] Chr5:138264946 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.651C>T (p.Asn217=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025365]\|not provided [RCV000862724]	Chr5:138824592 [GRCh38] Chr5:138160281 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.385C>A (p.Arg129=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169346]\|not provided [RCV000930659]	Chr5:138810121 [GRCh38] Chr5:138145810 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1461T>C (p.Phe487=)	single nucleotide variant	CTNNA1-related condition [RCV003955612]\|Hereditary cancer-predisposing syndrome [RCV002390760]\|not provided [RCV000863958]	Chr5:138917813 [GRCh38] Chr5:138253502 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.246G>A (p.Glu82=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015460]\|not provided [RCV000868919]	Chr5:138783317 [GRCh38] Chr5:138119006 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1329T>C (p.Asn443=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011066]\|not provided [RCV000862898]	Chr5:138904381 [GRCh38] Chr5:138240070 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.279T>C (p.Ala93=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002434358]\|not provided [RCV000981615]	Chr5:138783350 [GRCh38] Chr5:138119039 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.357G>A (p.Val119=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001020653]\|not provided [RCV000867572]	Chr5:138810093 [GRCh38] Chr5:138145782 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2016C>A (p.Ile672=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416034]\|not provided [RCV000869021]	Chr5:138930478 [GRCh38] Chr5:138266167 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-4T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002453990]\|not provided [RCV000869050]	Chr5:138932574 [GRCh38] Chr5:138268263 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1131C>T (p.Asp377=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002320037]\|not provided [RCV000873942]	Chr5:138886280 [GRCh38] Chr5:138221969 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2715C>T (p.Ser905=)	single nucleotide variant	not provided [RCV000979179]	Chr5:138934083 [GRCh38] Chr5:138269772 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.807G>A (p.Gln269=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027146]\|not provided [RCV000868603]	Chr5:138824748 [GRCh38] Chr5:138160437 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.361C>A (p.Arg121=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454161]\|not provided [RCV000941830]	Chr5:138810097 [GRCh38] Chr5:138145786 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2670C>T (p.His890=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002434129]\|not provided [RCV000872542]	Chr5:138934038 [GRCh38] Chr5:138269727 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2109C>A (p.Ser703=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416247]\|not provided [RCV000977949]	Chr5:138930571 [GRCh38] Chr5:138266260 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.771T>C (p.Asn257=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400146]\|not provided [RCV000979424]	Chr5:138824712 [GRCh38] Chr5:138160401 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1848C>T (p.Arg616=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409033]\|not provided [RCV000864882]	Chr5:138925356 [GRCh38] Chr5:138261045 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.594G>A (p.Leu198=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354759]\|not provided [RCV000920079]	Chr5:138824535 [GRCh38] Chr5:138160224 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2556C>T (p.Leu852=)	single nucleotide variant	not provided [RCV000870030]	Chr5:138933924 [GRCh38] Chr5:138269613 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2349C>T (p.Ile783=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002444948]\|not provided [RCV000874097]	Chr5:138932628 [GRCh38] Chr5:138268317 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.870T>C (p.Ile290=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372415]\|not provided [RCV000864510]	Chr5:138827526 [GRCh38] Chr5:138163215 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.321T>C (p.Ala107=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002320076]\|not provided [RCV000899137]	Chr5:138810057 [GRCh38] Chr5:138145746 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.525C>A (p.Ile175=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002336963]\|not provided [RCV000938015]	Chr5:138812239 [GRCh38] Chr5:138147928 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-8T>C	single nucleotide variant	not provided [RCV000876926]	Chr5:138812175 [GRCh38] Chr5:138147864 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-9G>T	single nucleotide variant	not provided [RCV000946090]	Chr5:138929237 [GRCh38] Chr5:138264926 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2238C>G (p.Ala746=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014875]\|not provided [RCV000863223]\|not specified [RCV001816954]	Chr5:138930875 [GRCh38] Chr5:138266564 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.408C>T (p.Thr136=)	single nucleotide variant	CTNNA1-related condition [RCV003928366]\|Hereditary cancer-predisposing syndrome [RCV002319969]\|not provided [RCV000864678]	Chr5:138810144 [GRCh38] Chr5:138145833 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.696T>C (p.Pro232=)	single nucleotide variant	not provided [RCV000981888]	Chr5:138824637 [GRCh38] Chr5:138160326 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1494C>G (p.Leu498=)	single nucleotide variant	not provided [RCV000979742]	Chr5:138917846 [GRCh38] Chr5:138253535 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.327A>G (p.Gly109=)	single nucleotide variant	CTNNA1-related condition [RCV003948104]\|Hereditary cancer-predisposing syndrome [RCV001019601]\|not provided [RCV000865690]	Chr5:138810063 [GRCh38] Chr5:138145752 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1800G>A (p.Ser600=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409047]\|not provided [RCV000866879]	Chr5:138925308 [GRCh38] Chr5:138260997 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1293T>A (p.Ile431=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382010]\|not provided [RCV000876844]	Chr5:138887639 [GRCh38] Chr5:138223328 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2394C>T (p.Ala798=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015386]\|not provided [RCV000864522]	Chr5:138932673 [GRCh38] Chr5:138268362 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.861A>G (p.Lys287=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018089]\|not provided [RCV000931959]	Chr5:138827517 [GRCh38] Chr5:138163206 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+7A>G	single nucleotide variant	not provided [RCV000979918]	Chr5:138810211 [GRCh38] Chr5:138145900 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.702C>T (p.Val234=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363216]\|not provided [RCV000863462]	Chr5:138824643 [GRCh38] Chr5:138160332 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+8C>T	single nucleotide variant	not provided [RCV000878201]	Chr5:138812310 [GRCh38] Chr5:138147999 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1833T>C (p.Phe611=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409090]\|not provided [RCV000872697]	Chr5:138925341 [GRCh38] Chr5:138261030 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2238C>T (p.Ala746=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427368]\|not provided [RCV000944961]	Chr5:138930875 [GRCh38] Chr5:138266564 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2334C>T (p.Ala778=)	single nucleotide variant	not provided [RCV000944965]	Chr5:138932613 [GRCh38] Chr5:138268302 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2148C>G (p.Ala716=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014573]\|not provided [RCV000867948]	Chr5:138930610 [GRCh38] Chr5:138266299 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1974A>C (p.Thr658=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307678]\|not provided [RCV000909805]	Chr5:138929320 [GRCh38] Chr5:138265009 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2193-9T>C	single nucleotide variant	not provided [RCV000896728]	Chr5:138930821 [GRCh38] Chr5:138266510 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1485C>A (p.Val495=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391022]\|not provided [RCV000978105]	Chr5:138917837 [GRCh38] Chr5:138253526 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1962G>T (p.Thr654=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002415984]\|not provided [RCV000862844]	Chr5:138929308 [GRCh38] Chr5:138264997 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2055G>A (p.Ala685=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416006]\|not provided [RCV000865537]	Chr5:138930517 [GRCh38] Chr5:138266206 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298T>C (p.His766=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015098]\|not provided [RCV000862899]	Chr5:138930935 [GRCh38] Chr5:138266624 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_015564.3(LRRTM2):c.905C>A (p.Ser302Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003270753]	Chr5:138873656 [GRCh38] Chr5:138209345 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1301C>T (p.Ala434Val)	single nucleotide variant	not provided [RCV000802471]	Chr5:138904353 [GRCh38] Chr5:138240042 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.892G>A (p.Glu298Lys)	single nucleotide variant	not provided [RCV000797240]	Chr5:138827548 [GRCh38] Chr5:138163237 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.149AGA[1] (p.Lys51del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV003166152]\|not provided [RCV000797284]	Chr5:138783219..138783221 [GRCh38] Chr5:138118908..138118910 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2659C>G (p.Gln887Glu)	single nucleotide variant	not provided [RCV000813706]	Chr5:138934027 [GRCh38] Chr5:138269716 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1271G>A (p.Arg424His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010659]\|Patterned macular dystrophy 2 [RCV003472353]\|not provided [RCV000797396]	Chr5:138887617 [GRCh38] Chr5:138223306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.25A>G (p.Ile9Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424857]\|not provided [RCV000802612]	Chr5:138781949 [GRCh38] Chr5:138117638 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1812G>C (p.Gln604His)	single nucleotide variant	CTNNA1-related condition [RCV003411773]\|Hereditary cancer-predisposing syndrome [RCV002406790]\|not provided [RCV000804451]	Chr5:138925320 [GRCh38] Chr5:138261009 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1935A>G (p.Thr645=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409144]\|not provided [RCV000892447]	Chr5:138929281 [GRCh38] Chr5:138264970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.770A>T (p.Asn257Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026742]\|not provided [RCV000809488]	Chr5:138824711 [GRCh38] Chr5:138160400 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2409C>T (p.Leu803=)	single nucleotide variant	CTNNA1-related condition [RCV003920392]\|Hereditary cancer-predisposing syndrome [RCV002442849]\|not provided [RCV000870540]	Chr5:138932688 [GRCh38] Chr5:138268377 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.657G>A (p.Pro219=)	single nucleotide variant	CTNNA1-related condition [RCV003938295]\|Hereditary cancer-predisposing syndrome [RCV002363270]\|not provided [RCV000870557]	Chr5:138824598 [GRCh38] Chr5:138160287 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1361C>T (p.Ala454Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386407]\|not provided [RCV000797784]	Chr5:138904413 [GRCh38] Chr5:138240102 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.613G>A (p.Asp205Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352419]\|Patterned macular dystrophy 2 [RCV003472419]\|not provided [RCV000813232]	Chr5:138824554 [GRCh38] Chr5:138160243 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1207G>A (p.Val403Ile)	single nucleotide variant	CTNNA1-related condition [RCV003411812]\|Hereditary cancer-predisposing syndrome [RCV001010307]\|Patterned macular dystrophy 2 [RCV003473503]\|not provided [RCV000819178]	Chr5:138887553 [GRCh38] Chr5:138223242 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.239C>T (p.Ala80Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002453885]\|not provided [RCV000821131]	Chr5:138783310 [GRCh38] Chr5:138118999 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1487G>A (p.Arg496His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307560]\|not provided [RCV000823205]	Chr5:138917839 [GRCh38] Chr5:138253528 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.993G>A (p.Glu331=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019917]\|not provided [RCV000871291]	Chr5:138827649 [GRCh38] Chr5:138163338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.376C>T (p.Arg126Trp)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003472355]\|not provided [RCV000798328]	Chr5:138810112 [GRCh38] Chr5:138145801 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.368A>G (p.Asn123Ser)	single nucleotide variant	not provided [RCV000813501]	Chr5:138810104 [GRCh38] Chr5:138145793 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1390G>T (p.Val464Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390645]\|not provided [RCV000813606]	Chr5:138917742 [GRCh38] Chr5:138253431 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2678C>T (p.Pro893Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003372881]\|not provided [RCV000819362]	Chr5:138934046 [GRCh38] Chr5:138269735 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1771G>A (p.Val591Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166240]\|not provided [RCV000804773]	Chr5:138925279 [GRCh38] Chr5:138260968 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1062T>C (p.Asn354=)	single nucleotide variant	not provided [RCV000821177]	Chr5:138827718 [GRCh38] Chr5:138163407 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1980C>T (p.Asp660=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416049]\|not provided [RCV000870715]	Chr5:138929326 [GRCh38] Chr5:138265015 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1053C>T (p.Tyr351=)	single nucleotide variant	not provided [RCV000937265]	Chr5:138827709 [GRCh38] Chr5:138163398 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2491C>T (p.Gln831Ter)	single nucleotide variant	not provided [RCV000794097]	Chr5:138933859 [GRCh38] Chr5:138269548 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1057G>C (p.Gly353Arg)	single nucleotide variant	not provided [RCV000804918]	Chr5:138827713 [GRCh38] Chr5:138163402 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.58A>T (p.Ile20Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352472]\|Retinal dystrophy [RCV001075593]\|not provided [RCV000823543]	Chr5:138781982 [GRCh38] Chr5:138117671 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2304C>T (p.Pro768=)	single nucleotide variant	CTNNA1-related condition [RCV003895318]\|Hereditary cancer-predisposing syndrome [RCV001015021]\|not provided [RCV000870770]	Chr5:138932583 [GRCh38] Chr5:138268272 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.301+4G>C	single nucleotide variant	not provided [RCV000793153]	Chr5:138783376 [GRCh38] Chr5:138119065 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1135C>T (p.Arg379Cys)	single nucleotide variant	not provided [RCV000807411]	Chr5:138886284 [GRCh38] Chr5:138221973 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.652G>C (p.Val218Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025377]\|not provided [RCV000807424]	Chr5:138824593 [GRCh38] Chr5:138160282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.285A>T (p.Glu95Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002440747]\|not provided [RCV000810775]	Chr5:138783356 [GRCh38] Chr5:138119045 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.479G>A (p.Gly160Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166169]\|Patterned macular dystrophy 2 [RCV003472356]\|not provided [RCV000798622]	Chr5:138812193 [GRCh38] Chr5:138147882 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1469A>T (p.Gln490Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011726]\|not provided [RCV000815137]	Chr5:138917821 [GRCh38] Chr5:138253510 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1356G>A (p.Met452Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381825]\|not provided [RCV000815165]	Chr5:138904408 [GRCh38] Chr5:138240097 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1192A>G (p.Asn398Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002336608]\|Patterned macular dystrophy 2 [RCV003472366]\|not provided [RCV000801367]	Chr5:138887538 [GRCh38] Chr5:138223227 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.56A>G (p.Glu19Gly)	single nucleotide variant	not provided [RCV000817808]	Chr5:138781980 [GRCh38] Chr5:138117669 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1742A>G (p.Asn581Ser)	single nucleotide variant	CTNNA1-related condition [RCV003413612]\|Hereditary cancer-predisposing syndrome [RCV002397635]\|Patterned macular dystrophy 2 [RCV003472382]\|not provided [RCV000804945]	Chr5:138924705 [GRCh38] Chr5:138260394 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1339G>A (p.Val447Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381866]\|not provided [RCV000821413]	Chr5:138904391 [GRCh38] Chr5:138240080 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1328A>G (p.Asn443Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381774]\|not provided [RCV000806127]	Chr5:138904380 [GRCh38] Chr5:138240069 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1025A>G (p.Gln342Arg)	single nucleotide variant	not provided [RCV000801476]	Chr5:138827681 [GRCh38] Chr5:138163370 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.772G>A (p.Ala258Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397625]\|not provided [RCV000803282]	Chr5:138824713 [GRCh38] Chr5:138160402 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.818GAG[5] (p.Gly276dup)	microsatellite	CTNNA1-related condition [RCV003396440]\|Hereditary cancer-predisposing syndrome [RCV001027349]\|not provided [RCV000819742]	Chr5:138824757..138824758 [GRCh38] Chr5:138160446..138160447 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1942T>G (p.Phe648Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013795]\|not provided [RCV000821462]	Chr5:138929288 [GRCh38] Chr5:138264977 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1168G>A (p.Val390Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010115]\|not provided [RCV000824037]	Chr5:138887514 [GRCh38] Chr5:138223203 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1670C>T (p.Thr557Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012660]\|not provided [RCV000791541]	Chr5:138924633 [GRCh38] Chr5:138260322 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1966G>C (p.Val656Leu)	single nucleotide variant	not provided [RCV000807978]	Chr5:138929312 [GRCh38] Chr5:138265001 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2088C>T (p.Ser696=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422788]\|not provided [RCV000811195]	Chr5:138930550 [GRCh38] Chr5:138266239 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.259_261del (p.Lys87del)	deletion	Hereditary cancer-predisposing syndrome [RCV002440722]\|Retinal dystrophy [RCV001073498]\|not provided [RCV000806689]	Chr5:138783330..138783332 [GRCh38] Chr5:138119019..138119021 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+1G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017131]\|Hereditary diffuse gastric adenocarcinoma [RCV003453728]\|not provided [RCV000822155]	Chr5:138782030 [GRCh38] Chr5:138117719 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.524T>A (p.Ile175Asn)	single nucleotide variant	not provided [RCV000816459]	Chr5:138812238 [GRCh38] Chr5:138147927 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.548A>G (p.Glu183Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024169]\|not provided [RCV000819817]	Chr5:138812262 [GRCh38] Chr5:138147951 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1813C>T (p.Pro605Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406721]\|not provided [RCV000791612]	Chr5:138925321 [GRCh38] Chr5:138261010 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.599A>G (p.Asp200Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024769]\|not provided [RCV000810618]	Chr5:138824540 [GRCh38] Chr5:138160229 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1193A>G (p.Asn398Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010169]\|Patterned macular dystrophy 2 [RCV003472422]\|not provided [RCV000814518]	Chr5:138887539 [GRCh38] Chr5:138223228 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1085A>G (p.Asp362Gly)	single nucleotide variant	not provided [RCV000800084]	Chr5:138886234 [GRCh38] Chr5:138221923 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1379T>C (p.Leu460Pro)	single nucleotide variant	not provided [RCV000818179]	Chr5:138904431 [GRCh38] Chr5:138240120 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.503G>A (p.Gly168Asp)	single nucleotide variant	CTNNA1-related condition [RCV003411768]\|Hereditary cancer-predisposing syndrome [RCV001023459]\|Patterned macular dystrophy 2 [RCV003472374]\|not provided [RCV000803473]	Chr5:138812217 [GRCh38] Chr5:138147906 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.553G>A (p.Asp185Asn)	single nucleotide variant	not provided [RCV000795452]	Chr5:138812267 [GRCh38] Chr5:138147956 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.637A>C (p.Ile213Leu)	single nucleotide variant	not provided [RCV000791705]	Chr5:138824578 [GRCh38] Chr5:138160267 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.730A>T (p.Ile244Leu)	single nucleotide variant	CTNNA1-related condition [RCV003413652]\|Hereditary cancer-predisposing syndrome [RCV001026252]\|Patterned macular dystrophy 2 [RCV003473506]\|not provided [RCV000819994]	Chr5:138824671 [GRCh38] Chr5:138160360 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1546+4A>G	single nucleotide variant	not provided [RCV000804767]	Chr5:138917902 [GRCh38] Chr5:138253591 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1107T>G (p.Asp369Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433978]\|Patterned macular dystrophy 2 [RCV003472424]\|not provided [RCV000815093]	Chr5:138886256 [GRCh38] Chr5:138221945 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.795C>G (p.Asp265Glu)	single nucleotide variant	CTNNA1-related condition [RCV003892717]\|Hereditary cancer-predisposing syndrome [RCV002422736]\|not provided [RCV000800230]	Chr5:138824736 [GRCh38] Chr5:138160425 [GRCh37] Chr5:5q31.2	benign\|likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.982G>C (p.Asp328His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372309]\|not provided [RCV000816733]	Chr5:138827638 [GRCh38] Chr5:138163327 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)	single nucleotide variant	CTNNA1-associated FEVR [RCV002509555]\|Hereditary cancer-predisposing syndrome [RCV002427020]\|not provided [RCV000816771]	Chr5:138930653 [GRCh38] Chr5:138266342 [GRCh37] Chr5:5q31.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2619_2620del (p.Lys874fs)	microsatellite	not provided [RCV000821978]	Chr5:138933980..138933981 [GRCh38] Chr5:138269669..138269670 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1450A>G (p.Met484Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380739]\|Patterned macular dystrophy 2 [RCV003472400]\|not provided [RCV000808792]	Chr5:138917802 [GRCh38] Chr5:138253491 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381837]\|Hereditary diffuse gastric adenocarcinoma [RCV003453719]\|not provided [RCV000816829]	Chr5:138904403 [GRCh38] Chr5:138240092 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1480C>A (p.Gln494Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011803]\|not provided [RCV000816832]	Chr5:138917832 [GRCh38] Chr5:138253521 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.222_223del (p.Lys75fs)	microsatellite	not provided [RCV000818508]	Chr5:138783291..138783292 [GRCh38] Chr5:138118980..138118981 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2692A>G (p.Ser898Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424824]\|not provided [RCV000796221]	Chr5:138934060 [GRCh38] Chr5:138269749 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.38G>T (p.Trp13Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307493]\|not provided [RCV000808291]	Chr5:138781962 [GRCh38] Chr5:138117651 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1143+4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002460108]\|not provided [RCV000803178]	Chr5:138886296 [GRCh38] Chr5:138221985 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2298+2dup	duplication	not provided [RCV000808047]	Chr5:138930936..138930937 [GRCh38] Chr5:138266625..138266626 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899+4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406807]\|not provided [RCV000808220]	Chr5:138925411 [GRCh38] Chr5:138261100 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001903.5(CTNNA1):c.2011-3C>T	single nucleotide variant	not provided [RCV000809378]	Chr5:138930470 [GRCh38] Chr5:138266159 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.986G>A (p.Arg329His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381827]\|Patterned macular dystrophy 2 [RCV003472427]\|not provided [RCV000815342]	Chr5:138827642 [GRCh38] Chr5:138163331 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1486C>T (p.Arg496Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390678]\|not provided [RCV000818642]	Chr5:138917838 [GRCh38] Chr5:138253527 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2504C>T (p.Ala835Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002453893]\|not provided [RCV000822146]	Chr5:138933872 [GRCh38] Chr5:138269561 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.463A>G (p.Lys155Glu)	single nucleotide variant	not provided [RCV000792798]	Chr5:138810199 [GRCh38] Chr5:138145888 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1796G>C (p.Ser599Thr)	single nucleotide variant	not provided [RCV000812019]	Chr5:138925304 [GRCh38] Chr5:138260993 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.23A>G (p.Asn8Ser)	single nucleotide variant	not provided [RCV000812215]	Chr5:138781947 [GRCh38] Chr5:138117636 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1615G>T (p.Asp539Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397589]\|not provided [RCV000795799]	Chr5:138924578 [GRCh38] Chr5:138260267 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1396A>G (p.Asn466Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390652]\|not provided [RCV000815387]	Chr5:138917748 [GRCh38] Chr5:138253437 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.232A>G (p.Lys78Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442649]\|not provided [RCV000799012]	Chr5:138783303 [GRCh38] Chr5:138118992 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.649A>C (p.Asn217His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352357]\|not provided [RCV000800627]	Chr5:138824590 [GRCh38] Chr5:138160279 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.808C>T (p.His270Tyr)	single nucleotide variant	CTNNA1-related condition [RCV003411804]\|Hereditary cancer-predisposing syndrome [RCV001027156]\|not provided [RCV000817114]	Chr5:138824749 [GRCh38] Chr5:138160438 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2621_2622del (p.Lys874fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002424873]\|not provided [RCV000805835]	Chr5:138933988..138933989 [GRCh38] Chr5:138269677..138269678 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-5C>T	single nucleotide variant	CTNNA1-related condition [RCV003908263]\|Hereditary cancer-predisposing syndrome [RCV001015519]\|not provided [RCV000870192]	Chr5:138933797 [GRCh38] Chr5:138269486 [GRCh37] Chr5:5q31.2	benign\|likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2394C>G (p.Ala798=)	single nucleotide variant	not provided [RCV000976923]	Chr5:138932673 [GRCh38] Chr5:138268362 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2493G>C (p.Gln831His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015698]\|Hereditary diffuse gastric adenocarcinoma [RCV003316810]\|Patterned macular dystrophy 2 [RCV003472349]\|not provided [RCV000796840]	Chr5:138933861 [GRCh38] Chr5:138269550 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1899G>A (p.Arg633=)	single nucleotide variant	CTNNA1-related condition [RCV003892736]\|Hereditary cancer-predisposing syndrome [RCV002406834]\|not provided [RCV000812489]	Chr5:138925407 [GRCh38] Chr5:138261096 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.193G>A (p.Val65Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406875]\|not provided [RCV000818821]	Chr5:138783264 [GRCh38] Chr5:138118953 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2325C>T (p.Asp775=)	single nucleotide variant	not provided [RCV000976946]	Chr5:138932604 [GRCh38] Chr5:138268293 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2355C>T (p.Leu785=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442863]\|not provided [RCV000871630]	Chr5:138932634 [GRCh38] Chr5:138268323 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.377G>A (p.Arg126Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002360913]\|not provided [RCV000792921]	Chr5:138810113 [GRCh38] Chr5:138145802 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1618C>T (p.Arg540Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397712]\|not provided [RCV000819369]	Chr5:138924581 [GRCh38] Chr5:138260270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.505A>G (p.Asn169Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002336671]\|Patterned macular dystrophy 2 [RCV003472414]\|not provided [RCV000812082]	Chr5:138812219 [GRCh38] Chr5:138147908 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.347G>A (p.Cys116Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001020401]\|Patterned macular dystrophy 2 [RCV002477810]\|not provided [RCV000795830]	Chr5:138810083 [GRCh38] Chr5:138145772 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.370A>G (p.Met124Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001020938]\|Patterned macular dystrophy 2 [RCV003472337]\|not provided [RCV000793291]	Chr5:138810106 [GRCh38] Chr5:138145795 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.1893G>A (p.Met631Ile)	single nucleotide variant	not provided [RCV000793320]	Chr5:138925401 [GRCh38] Chr5:138261090 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1514T>C (p.Ile505Thr)	single nucleotide variant	not provided [RCV000803294]	Chr5:138917866 [GRCh38] Chr5:138253555 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.974C>T (p.Thr325Met)	single nucleotide variant	not provided [RCV000803453]	Chr5:138827630 [GRCh38] Chr5:138163319 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2087G>A (p.Ser696Asn)	single nucleotide variant	not provided [RCV000822707]	Chr5:138930549 [GRCh38] Chr5:138266238 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.230A>T (p.Asp77Val)	single nucleotide variant	not provided [RCV000800151]	Chr5:138783301 [GRCh38] Chr5:138118990 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1070G>A (p.Arg357His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017199]\|Patterned macular dystrophy 2 [RCV003472375]\|not provided [RCV000803768]	Chr5:138886219 [GRCh38] Chr5:138221908 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.931A>G (p.Ser311Gly)	single nucleotide variant	not provided [RCV000813225]	Chr5:138827587 [GRCh38] Chr5:138163276 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2614A>G (p.Arg872Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424877]\|not provided [RCV000806825]	Chr5:138933982 [GRCh38] Chr5:138269671 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.601G>A (p.Val201Ile)	single nucleotide variant	not provided [RCV000807106]	Chr5:138824542 [GRCh38] Chr5:138160231 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1726A>G (p.Thr576Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002408976]\|Patterned macular dystrophy 2 [RCV001535745]\|not provided [RCV000820479]	Chr5:138924689 [GRCh38] Chr5:138260378 [GRCh37] Chr5:5q31.2	uncertain significance\|not provided
NM_001903.5(CTNNA1):c.2684A>G (p.Gln895Arg)	single nucleotide variant	not provided [RCV000806663]	Chr5:138934052 [GRCh38] Chr5:138269741 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1536G>C (p.Leu512Phe)	single nucleotide variant	not provided [RCV000810386]	Chr5:138917888 [GRCh38] Chr5:138253577 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.838T>C (p.Tyr280His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002440745]\|not provided [RCV000810401]	Chr5:138824779 [GRCh38] Chr5:138160468 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422690]\|Hereditary diffuse gastric adenocarcinoma [RCV003141775]\|Retinal dystrophy [RCV001074413]\|not provided [RCV000793962]	Chr5:138930485 [GRCh38] Chr5:138266174 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.704C>T (p.Ala235Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363091]\|Retinal dystrophy [RCV001075557]\|not provided [RCV000810446]	Chr5:138824645 [GRCh38] Chr5:138160334 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.923G>A (p.Arg308His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370116]\|not provided [RCV000801004]	Chr5:138827579 [GRCh38] Chr5:138163268 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.974C>A (p.Thr325Lys)	single nucleotide variant	not provided [RCV000817529]	Chr5:138827630 [GRCh38] Chr5:138163319 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.331T>C (p.Phe111Leu)	single nucleotide variant	not provided [RCV000820646]	Chr5:138810067 [GRCh38] Chr5:138145756 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.645GAA[1] (p.Lys216del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV003169009]\|not provided [RCV000820656]	Chr5:138824585..138824587 [GRCh38] Chr5:138160274..138160276 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1799C>T (p.Ser600Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002408977]\|not provided [RCV000820674]	Chr5:138925307 [GRCh38] Chr5:138260996 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.891C>T (p.Ser297=)	single nucleotide variant	CTNNA1-related condition [RCV003908101]\|Hereditary cancer-predisposing syndrome [RCV001018510]\|not provided [RCV000807561]	Chr5:138827547 [GRCh38] Chr5:138163236 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.736A>C (p.Lys246Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381784]\|not provided [RCV000807603]	Chr5:138824677 [GRCh38] Chr5:138160366 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1368G>C (p.Gln456His)	single nucleotide variant	not provided [RCV000820860]	Chr5:138904420 [GRCh38] Chr5:138240109 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.225G>C (p.Lys75Asn)	single nucleotide variant	not provided [RCV000797467]	Chr5:138783296 [GRCh38] Chr5:138118985 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1957A>G (p.Arg653Gly)	single nucleotide variant	not provided [RCV000817990]	Chr5:138929303 [GRCh38] Chr5:138264992 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1678A>T (p.Met560Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397597]\|not provided [RCV000797906]	Chr5:138924641 [GRCh38] Chr5:138260330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.710A>G (p.Tyr237Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363080]\|Patterned macular dystrophy 2 [RCV003472398]\|not provided [RCV000808143]	Chr5:138824651 [GRCh38] Chr5:138160340 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.2413G>A (p.Gly805Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002453888]\|not provided [RCV000821242]	Chr5:138932692 [GRCh38] Chr5:138268381 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2635_2636del (p.Gln879fs)	microsatellite	not provided [RCV000804856]	Chr5:138934000..138934001 [GRCh38] Chr5:138269689..138269690 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2193-3_2193dup	duplication	not provided [RCV000823671]	Chr5:138930826..138930827 [GRCh38] Chr5:138266515..138266516 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.293G>A (p.Arg98Gln)	single nucleotide variant	CTNNA1-related condition [RCV003392597]\|Hereditary cancer-predisposing syndrome [RCV001017615]\|Patterned macular dystrophy 2 [RCV003472332]\|not provided [RCV000791893]	Chr5:138783364 [GRCh38] Chr5:138119053 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.2412C>T (p.Gly804=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458474]\|not provided [RCV000802001]	Chr5:138932691 [GRCh38] Chr5:138268380 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2522C>A (p.Thr841Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424871]\|not provided [RCV000805169]	Chr5:138933890 [GRCh38] Chr5:138269579 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2393_2394insT (p.Glu799fs)	insertion	not provided [RCV000798244]	Chr5:138932672..138932673 [GRCh38] Chr5:138268361..138268362 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.449T>C (p.Leu150Ser)	single nucleotide variant	not provided [RCV000808581]	Chr5:138810185 [GRCh38] Chr5:138145874 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1352G>A (p.Arg451Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386429]\|Patterned macular dystrophy 2 [RCV003472369]\|not provided [RCV000802068]	Chr5:138904404 [GRCh38] Chr5:138240093 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.406A>T (p.Thr136Ser)	single nucleotide variant	CTNNA1-related condition [RCV003411764]\|Hereditary cancer-predisposing syndrome [RCV002325545]\|not provided [RCV000802156]	Chr5:138810142 [GRCh38] Chr5:138145831 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1192A>C (p.Asn398His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002336614]\|not provided [RCV000802192]	Chr5:138887538 [GRCh38] Chr5:138223227 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.703G>A (p.Ala235Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372324]\|not provided [RCV000818654]	Chr5:138824644 [GRCh38] Chr5:138160333 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2621_2627dup (p.Asp876fs)	duplication	not provided [RCV000805346]	Chr5:138933986..138933987 [GRCh38] Chr5:138269675..138269676 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.995G>A (p.Arg332Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381886]\|not provided [RCV000824398]	Chr5:138827651 [GRCh38] Chr5:138163340 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2299-10C>G	single nucleotide variant	not provided [RCV000807904]	Chr5:138932568 [GRCh38] Chr5:138268257 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2281C>T (p.Arg761Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380716]\|not provided [RCV000794957]	Chr5:138930918 [GRCh38] Chr5:138266607 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1931A>G (p.Glu644Gly)	single nucleotide variant	not provided [RCV000802610]	Chr5:138929277 [GRCh38] Chr5:138264966 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.350C>T (p.Ser117Phe)	single nucleotide variant	CTNNA1-related condition [RCV003892708]\|Hereditary cancer-predisposing syndrome [RCV001020484]\|not provided [RCV000795221]	Chr5:138810086 [GRCh38] Chr5:138145775 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2713A>G (p.Ser905Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433981]\|not provided [RCV000815220]	Chr5:138934081 [GRCh38] Chr5:138269770 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2671G>A (p.Val891Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016274]\|not provided [RCV000798882]	Chr5:138934039 [GRCh38] Chr5:138269728 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1054A>G (p.Met352Val)	single nucleotide variant	not provided [RCV000815347]	Chr5:138827710 [GRCh38] Chr5:138163399 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.89A>C (p.Glu30Ala)	single nucleotide variant	not provided [RCV000792870]	Chr5:138782013 [GRCh38] Chr5:138117702 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.116T>G (p.Leu39Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003372962]\|not provided [RCV001055995]	Chr5:138783187 [GRCh38] Chr5:138118876 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.733T>C (p.Tyr245His)	single nucleotide variant	CTNNA1-related condition [RCV003892729]\|Hereditary cancer-predisposing syndrome [RCV001026297]\|Patterned macular dystrophy 2 [RCV003472406]\|not provided [RCV000809856]	Chr5:138824674 [GRCh38] Chr5:138160363 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.44C>G (p.Pro15Arg)	single nucleotide variant	not provided [RCV001059959]	Chr5:138781968 [GRCh38] Chr5:138117657 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.899G>A (p.Arg300His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370083]\|not provided [RCV000795728]	Chr5:138827555 [GRCh38] Chr5:138163244 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1385C>T (p.Pro462Leu)	single nucleotide variant	CTNNA1-related condition [RCV003396411]\|Hereditary cancer-predisposing syndrome [RCV002388520]\|Patterned macular dystrophy 2 [RCV003472389]\|not provided [RCV000806478]	Chr5:138904437 [GRCh38] Chr5:138240126 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1136G>A (p.Arg379His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002325517]\|not provided [RCV000796264]	Chr5:138886285 [GRCh38] Chr5:138221974 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1143+6C>G	single nucleotide variant	not provided [RCV000799727]	Chr5:138886298 [GRCh38] Chr5:138221987 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1747+3A>G	single nucleotide variant	not provided [RCV000802668]	Chr5:138924713 [GRCh38] Chr5:138260402 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117604)_(138145903_?)dup	duplication	not provided [RCV000794130]	Chr5:138781915..138810214 [GRCh38] Chr5:138117604..138145903 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2443_2462dup (p.Ala821_Ala822insProCysProTer)	duplication	not provided [RCV000792183]	Chr5:138933808..138933809 [GRCh38] Chr5:138269497..138269498 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.476A>G (p.Asp159Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002334467]\|not provided [RCV000792195]	Chr5:138812190 [GRCh38] Chr5:138147879 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.637A>G (p.Ile213Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025197]\|Patterned macular dystrophy 2 [RCV002501094]\|not provided [RCV000808831]	Chr5:138824578 [GRCh38] Chr5:138160267 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.469-5TA[3]	microsatellite	not provided [RCV000797882]	Chr5:138812177..138812178 [GRCh38] Chr5:138147866..138147867 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.504C>T (p.Gly168=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023473]\|not provided [RCV001369068]	Chr5:138812218 [GRCh38] Chr5:138147907 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.506A>G (p.Asn169Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023493]\|not provided [RCV001209435]	Chr5:138812220 [GRCh38] Chr5:138147909 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1270C>T (p.Arg424Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442625]\|not provided [RCV000794653]	Chr5:138887616 [GRCh38] Chr5:138223305 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.392dup (p.Leu131fs)	duplication	not provided [RCV000810697]	Chr5:138810125..138810126 [GRCh38] Chr5:138145814..138145815 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.173C>T (p.Ala58Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397687]\|not provided [RCV000814724]	Chr5:138783244 [GRCh38] Chr5:138118933 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858C>T (p.Asp286=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442687]\|not provided [RCV000805030]	Chr5:138824799 [GRCh38] Chr5:138160488 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1619G>A (p.Arg540His)	single nucleotide variant	CTNNA1-related condition [RCV003411781]\|Hereditary cancer-predisposing syndrome [RCV002388521]\|Patterned macular dystrophy 2 [RCV002478866]\|not provided [RCV000806498]	Chr5:138924582 [GRCh38] Chr5:138260271 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.106-3T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406881]\|not provided [RCV000819862]	Chr5:138783174 [GRCh38] Chr5:138118863 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.989G>A (p.Arg330His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386396]\|not provided [RCV000795858]	Chr5:138827645 [GRCh38] Chr5:138163334 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2373C>G (p.Asn791Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307540]\|not provided [RCV000818249]	Chr5:138932652 [GRCh38] Chr5:138268341 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.430A>G (p.Met144Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002332642]\|Patterned macular dystrophy 2 [RCV003472383]\|not provided [RCV000805095]	Chr5:138810166 [GRCh38] Chr5:138145855 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1212G>C (p.Leu404Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352475]\|not provided [RCV000824521]	Chr5:138887558 [GRCh38] Chr5:138223247 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)	duplication	Hereditary cancer-predisposing syndrome [RCV001021801]\|Hereditary diffuse gastric adenocarcinoma [RCV003316808]\|not provided [RCV000791821]	Chr5:138810141..138810142 [GRCh38] Chr5:138145830..138145831 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1143+5T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017423]\|not provided [RCV000822944]	Chr5:138886297 [GRCh38] Chr5:138221986 [GRCh37] Chr5:5q31.2	benign\|likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1613_1617dup (p.Arg540fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002397599]\|not provided [RCV000798703]	Chr5:138924574..138924575 [GRCh38] Chr5:138260263..138260264 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.316G>A (p.Ala106Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018946]\|not provided [RCV000818351]	Chr5:138810052 [GRCh38] Chr5:138145741 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1675G>C (p.Glu559Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397592]\|not provided [RCV000796181]	Chr5:138924638 [GRCh38] Chr5:138260327 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2558A>T (p.Asn853Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427011]\|not provided [RCV000815250]	Chr5:138933926 [GRCh38] Chr5:138269615 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458448]\|Polyposis syndrome, hereditary mixed, 1 [RCV002275135]\|not provided [RCV000799023]	Chr5:138810075 [GRCh38] Chr5:138145764 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2554C>T (p.Leu852Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002434017]\|not provided [RCV000822067]	Chr5:138933922 [GRCh38] Chr5:138269611 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117604)_(138269788_?)dup	duplication	not provided [RCV000794141]	Chr5:138781915..138934099 [GRCh38] Chr5:138117604..138269788 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1047G>A (p.Ser349=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166319]\|not provided [RCV000812841]	Chr5:138827703 [GRCh38] Chr5:138163392 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1663G>A (p.Val555Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397600]\|not provided [RCV000799122]	Chr5:138924626 [GRCh38] Chr5:138260315 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.128A>G (p.Asn43Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381811]\|not provided [RCV000812936]	Chr5:138783199 [GRCh38] Chr5:138118888 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1938A>T (p.Glu646Asp)	single nucleotide variant	not provided [RCV000799340]	Chr5:138929284 [GRCh38] Chr5:138264973 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.842C>T (p.Ala281Val)	single nucleotide variant	not provided [RCV000799434]	Chr5:138824783 [GRCh38] Chr5:138160472 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.614A>G (p.Asp205Gly)	single nucleotide variant	not provided [RCV000822460]	Chr5:138824555 [GRCh38] Chr5:138160244 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.239C>G (p.Ala80Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424902]\|not provided [RCV000810814]	Chr5:138783310 [GRCh38] Chr5:138118999 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.286G>C (p.Asp96His)	single nucleotide variant	not provided [RCV000802931]	Chr5:138783357 [GRCh38] Chr5:138119046 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1022G>A (p.Arg341His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442704]\|not provided [RCV000808109]	Chr5:138827678 [GRCh38] Chr5:138163367 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.199C>A (p.Gln67Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422697]\|not provided [RCV000794542]	Chr5:138783270 [GRCh38] Chr5:138118959 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2344C>T (p.Arg782Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442671]\|not provided [RCV000802971]	Chr5:138932623 [GRCh38] Chr5:138268312 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.15T>C (p.His5=)	single nucleotide variant	not provided [RCV000942158]	Chr5:138781939 [GRCh38] Chr5:138117628 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.104A>G (p.Gln35Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003372847]\|not provided [RCV000794677]	Chr5:138782028 [GRCh38] Chr5:138117717 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.521G>A (p.Gly174Glu)	single nucleotide variant	not provided [RCV000816416]	Chr5:138812235 [GRCh38] Chr5:138147924 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.551T>C (p.Val184Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002345795]\|not provided [RCV000803124]	Chr5:138812265 [GRCh38] Chr5:138147954 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1402G>A (p.Ala468Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166224]\|not provided [RCV000803138]	Chr5:138917754 [GRCh38] Chr5:138253443 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.259A>C (p.Lys87Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427043]\|not provided [RCV000819643]	Chr5:138783330 [GRCh38] Chr5:138119019 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2081A>C (p.Glu694Ala)	single nucleotide variant	not provided [RCV000792187]	Chr5:138930543 [GRCh38] Chr5:138266232 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.10:g.(?_138781915)_(138934099_?)del	deletion	not provided [RCV000800667]	Chr5:138781915..138934099 [GRCh38] Chr5:138117604..138269788 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.403G>A (p.Val135Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372335]\|not provided [RCV000819822]	Chr5:138810139 [GRCh38] Chr5:138145828 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+4C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352390]\|not provided [RCV000807289]	Chr5:138812306 [GRCh38] Chr5:138147995 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.947C>T (p.Ala316Val)	single nucleotide variant	not provided [RCV000800337]	Chr5:138827603 [GRCh38] Chr5:138163292 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.755T>C (p.Val252Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166232]\|not provided [RCV000803596]	Chr5:138824696 [GRCh38] Chr5:138160385 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.734A>G (p.Tyr245Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381859]\|Patterned macular dystrophy 2 [RCV003473507]\|not provided [RCV000820052]	Chr5:138824675 [GRCh38] Chr5:138160364 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1389+8A>C	single nucleotide variant	not provided [RCV000919397]	Chr5:138904449 [GRCh38] Chr5:138240138 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.143C>T (p.Ser48Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390663]\|not provided [RCV000816893]	Chr5:138783214 [GRCh38] Chr5:138118903 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2512G>A (p.Val838Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015738]\|Patterned macular dystrophy 2 [RCV003472377]\|not provided [RCV000804014]	Chr5:138933880 [GRCh38] Chr5:138269569 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.737A>G (p.Lys246Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169049]\|not provided [RCV000823151]	Chr5:138824678 [GRCh38] Chr5:138160367 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.248G>A (p.Ser83Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015683]\|not provided [RCV000792749]	Chr5:138783319 [GRCh38] Chr5:138119008 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2705C>T (p.Ala902Val)	single nucleotide variant	CTNNA1-related condition [RCV003413624]\|Hereditary cancer-predisposing syndrome [RCV002424890]\|not provided [RCV000809334]	Chr5:138934073 [GRCh38] Chr5:138269762 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+5G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397673]\|not provided [RCV000812230]	Chr5:138924715 [GRCh38] Chr5:138260404 [GRCh37] Chr5:5q31.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001903.5(CTNNA1):c.2581A>G (p.Met861Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003372874]\|not provided [RCV000814212]	Chr5:138933949 [GRCh38] Chr5:138269638 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1617C>A (p.Asp539Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397616]\|not provided [RCV000800931]	Chr5:138924580 [GRCh38] Chr5:138260269 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.793_804del (p.Asp265_Ser268del)	deletion	not provided [RCV000804207]	Chr5:138824727..138824738 [GRCh38] Chr5:138160416..138160427 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.334G>A (p.Ala112Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169010]\|not provided [RCV000820658]	Chr5:138810070 [GRCh38] Chr5:138145759 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.457C>A (p.Gln153Lys)	single nucleotide variant	not provided [RCV000823485]	Chr5:138810193 [GRCh38] Chr5:138145882 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.963C>T (p.Asp321=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019579]\|not provided [RCV000862188]	Chr5:138827619 [GRCh38] Chr5:138163308 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.129T>C (p.Asn43=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381878]\|not provided [RCV000823604]	Chr5:138783200 [GRCh38] Chr5:138118889 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.810C>T (p.His270=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002415983]\|not provided [RCV000862305]	Chr5:138824751 [GRCh38] Chr5:138160440 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.202G>A (p.Ala68Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422814]\|Patterned macular dystrophy 2 [RCV003472423]\|not provided [RCV000814661]	Chr5:138783273 [GRCh38] Chr5:138118962 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.926_936del (p.Leu309fs)	deletion	not provided [RCV000824055]	Chr5:138827580..138827590 [GRCh38] Chr5:138163269..138163279 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.608A>G (p.His203Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002355061]\|not provided [RCV001059975]	Chr5:138824549 [GRCh38] Chr5:138160238 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2419C>G (p.Leu807Val)	single nucleotide variant	not provided [RCV001061581]	Chr5:138932698 [GRCh38] Chr5:138268387 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)	duplication	Hereditary diffuse gastric adenocarcinoma [RCV003455237]\|not provided [RCV001053720]	Chr5:138904381..138904382 [GRCh38] Chr5:138240070..138240071 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003455249]\|not provided [RCV001054842]	Chr5:138887591..138887594 [GRCh38] Chr5:138223280..138223283 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.557A>G (p.Lys186Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348415]\|not provided [RCV001055673]	Chr5:138812271 [GRCh38] Chr5:138147960 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1094A>G (p.Asn365Ser)	single nucleotide variant	not provided [RCV001056197]	Chr5:138886243 [GRCh38] Chr5:138221932 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.713A>C (p.Lys238Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002365699]\|not provided [RCV001052618]	Chr5:138824654 [GRCh38] Chr5:138160343 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1905T>G (p.Pro635=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409224]\|not provided [RCV000936220]	Chr5:138929251 [GRCh38] Chr5:138264940 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455238]\|not provided [RCV001053991]	Chr5:138810121 [GRCh38] Chr5:138145810 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2210A>G (p.Lys737Arg)	single nucleotide variant	not provided [RCV001054690]	Chr5:138930847 [GRCh38] Chr5:138266536 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q31.2(chr5:138239786-138561437)x4	copy number gain	not provided [RCV000846182]	Chr5:138239786..138561437 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.793G>T (p.Asp265Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307881]\|Patterned macular dystrophy 2 [RCV002497426]\|not provided [RCV001056396]	Chr5:138824734 [GRCh38] Chr5:138160423 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468T>C (p.Val156=)	single nucleotide variant	not provided [RCV001211512]	Chr5:138810204 [GRCh38] Chr5:138145893 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.136G>T (p.Gly46Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379760]\|not provided [RCV001202348]	Chr5:138783207 [GRCh38] Chr5:138118896 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2000A>G (p.Gln667Arg)	single nucleotide variant	not provided [RCV001211628]	Chr5:138929346 [GRCh38] Chr5:138265035 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.348C>G (p.Cys116Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001020425]\|not provided [RCV001067634]	Chr5:138810084 [GRCh38] Chr5:138145773 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.961G>A (p.Asp321Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003163628]\|not provided [RCV001213598]	Chr5:138827617 [GRCh38] Chr5:138163306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1259C>G (p.Ala420Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411782]\|not provided [RCV001212159]	Chr5:138887605 [GRCh38] Chr5:138223294 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1389+3A>G	single nucleotide variant	not provided [RCV001238964]	Chr5:138904444 [GRCh38] Chr5:138240133 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.818dup (p.Gly274fs)	duplication	not provided [RCV001239095]	Chr5:138824757..138824758 [GRCh38] Chr5:138160446..138160447 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2702A>G (p.Lys901Arg)	single nucleotide variant	not provided [RCV001222004]	Chr5:138934070 [GRCh38] Chr5:138269759 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1418C>G (p.Ala473Gly)	single nucleotide variant	not provided [RCV001223621]	Chr5:138917770 [GRCh38] Chr5:138253459 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.626C>G (p.Ala209Gly)	single nucleotide variant	not provided [RCV001225747]	Chr5:138824567 [GRCh38] Chr5:138160256 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1331AAG[1] (p.Glu445del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV002379846]\|not provided [RCV001223782]	Chr5:138904382..138904384 [GRCh38] Chr5:138240071..138240073 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.166A>G (p.Lys56Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402762]\|not provided [RCV001240575]	Chr5:138783237 [GRCh38] Chr5:138118926 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1300G>C (p.Ala434Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379865]\|not provided [RCV001226359]	Chr5:138904352 [GRCh38] Chr5:138240041 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1082G>T (p.Ser361Ile)	single nucleotide variant	not provided [RCV001231740]	Chr5:138886231 [GRCh38] Chr5:138221920 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1772T>C (p.Val591Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402590]\|not provided [RCV001205156]	Chr5:138925280 [GRCh38] Chr5:138260969 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1922_1923del (p.Asp640_Ser641insTer)	microsatellite	not provided [RCV001233563]	Chr5:138929266..138929267 [GRCh38] Chr5:138264955..138264956 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.52C>G (p.Leu18Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348738]\|not provided [RCV001220886]	Chr5:138781976 [GRCh38] Chr5:138117665 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.201A>C (p.Gln67His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418806]\|not provided [RCV001234449]	Chr5:138783272 [GRCh38] Chr5:138118961 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+1G>A	single nucleotide variant	not provided [RCV001222840]	Chr5:138810205 [GRCh38] Chr5:138145894 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1063-14_1063-7del	deletion	not provided [RCV001222885]	Chr5:138886196..138886203 [GRCh38] Chr5:138221885..138221892 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2588C>T (p.Ala863Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003373052]\|not provided [RCV001222887]	Chr5:138933956 [GRCh38] Chr5:138269645 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1839T>A (p.Asp613Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411869]\|not provided [RCV001234567]	Chr5:138925347 [GRCh38] Chr5:138261036 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1763C>T (p.Thr588Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402666]\|not provided [RCV001220704]	Chr5:138925271 [GRCh38] Chr5:138260960 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1124C>T (p.Thr375Ile)	single nucleotide variant	not provided [RCV001233835]	Chr5:138886273 [GRCh38] Chr5:138221962 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+3A>G	single nucleotide variant	not provided [RCV001209410]	Chr5:138812305 [GRCh38] Chr5:138147994 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1867C>T (p.Arg623Trp)	single nucleotide variant	not provided [RCV001239525]	Chr5:138925375 [GRCh38] Chr5:138261064 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.878C>T (p.Pro293Leu)	single nucleotide variant	not provided [RCV001241240]	Chr5:138827534 [GRCh38] Chr5:138163223 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.565_571delinsTAATGTT (p.Ile189_Ala191delinsTer)	indel	not provided [RCV001243099]	Chr5:138812279..138812285 [GRCh38] Chr5:138147968..138147974 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.495G>T (p.Arg165Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339674]\|not provided [RCV001243122]	Chr5:138812209 [GRCh38] Chr5:138147898 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1	copy number loss	not provided [RCV000846144]	Chr5:137865800..139097368 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.839A>G (p.Tyr280Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436868]\|Patterned macular dystrophy 2 [RCV003473780]\|not provided [RCV001223578]	Chr5:138824780 [GRCh38] Chr5:138160469 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.1548G>C (p.Glu516Asp)	single nucleotide variant	not provided [RCV001226990]	Chr5:138924511 [GRCh38] Chr5:138260200 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.814G>A (p.Gly272Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418772]\|not provided [RCV001223676]	Chr5:138824755 [GRCh38] Chr5:138160444 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1906G>A (p.Glu636Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411880]\|not provided [RCV001238355]	Chr5:138929252 [GRCh38] Chr5:138264941 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1983T>A (p.Asp661Glu)	single nucleotide variant	not provided [RCV001221315]	Chr5:138929329 [GRCh38] Chr5:138265018 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1961C>T (p.Thr654Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418809]\|not provided [RCV001235364]	Chr5:138929307 [GRCh38] Chr5:138264996 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402698]\|Hereditary diffuse gastric adenocarcinoma [RCV003449709]\|not provided [RCV001224173]	Chr5:138924599 [GRCh38] Chr5:138260288 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2650C>G (p.Arg884Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002451454]\|not provided [RCV001210106]	Chr5:138934018 [GRCh38] Chr5:138269707 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.319G>A (p.Ala107Thr)	single nucleotide variant	not provided [RCV001241639]	Chr5:138810055 [GRCh38] Chr5:138145744 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.712A>G (p.Lys238Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002365917]\|not provided [RCV001203935]	Chr5:138824653 [GRCh38] Chr5:138160342 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.121A>C (p.Asn41His)	single nucleotide variant	not provided [RCV001238688]	Chr5:138783192 [GRCh38] Chr5:138118881 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1640_1641delinsTA (p.Gly547Val)	indel	not provided [RCV001240658]	Chr5:138924603..138924604 [GRCh38] Chr5:138260292..138260293 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2395G>A (p.Glu799Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447133]\|not provided [RCV001226016]	Chr5:138932674 [GRCh38] Chr5:138268363 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-7C>G	single nucleotide variant	not provided [RCV001226722]	Chr5:138783170 [GRCh38] Chr5:138118859 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-3C>T	single nucleotide variant	not provided [RCV001203955]	Chr5:138925253 [GRCh38] Chr5:138260942 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2410G>A (p.Gly804Ser)	single nucleotide variant	not provided [RCV001224535]	Chr5:138932689 [GRCh38] Chr5:138268378 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1545A>G (p.Ser515=)	single nucleotide variant	not provided [RCV001226069]	Chr5:138917897 [GRCh38] Chr5:138253586 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1153G>T (p.Ala385Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348742]\|not provided [RCV001222288]	Chr5:138887499 [GRCh38] Chr5:138223188 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+3_2298+6dup	duplication	not provided [RCV001224785]	Chr5:138930935..138930936 [GRCh38] Chr5:138266624..138266625 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1078A>G (p.Arg360Gly)	single nucleotide variant	not provided [RCV001230394]	Chr5:138886227 [GRCh38] Chr5:138221916 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.185C>T (p.Ala62Val)	single nucleotide variant	not provided [RCV001204249]	Chr5:138783256 [GRCh38] Chr5:138118945 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.754G>A (p.Val252Ile)	single nucleotide variant	not provided [RCV001215220]	Chr5:138824695 [GRCh38] Chr5:138160384 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588G>C (p.Gln196His)	single nucleotide variant	not provided [RCV001215377]	Chr5:138812302 [GRCh38] Chr5:138147991 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.859-6C>G	single nucleotide variant	not provided [RCV001215427]	Chr5:138827509 [GRCh38] Chr5:138163198 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.665A>C (p.Tyr222Ser)	single nucleotide variant	not provided [RCV001213388]	Chr5:138824606 [GRCh38] Chr5:138160295 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2557A>C (p.Asn853His)	single nucleotide variant	not provided [RCV001219525]	Chr5:138933925 [GRCh38] Chr5:138269614 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003316949]	Chr5:138925321 [GRCh38] Chr5:138261010 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003316982]\|not provided [RCV003699065]	Chr5:138929273..138929274 [GRCh38] Chr5:138264962..138264963 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.583C>G (p.Gln195Glu)	single nucleotide variant	not provided [RCV001213056]	Chr5:138812297 [GRCh38] Chr5:138147986 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.718A>G (p.Asn240Asp)	single nucleotide variant	not provided [RCV001245845]	Chr5:138824659 [GRCh38] Chr5:138160348 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1837G>A (p.Asp613Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294025]\|not provided [RCV001212014]	Chr5:138925345 [GRCh38] Chr5:138261034 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.586C>G (p.Gln196Glu)	single nucleotide variant	not provided [RCV001212504]	Chr5:138812300 [GRCh38] Chr5:138147989 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.559C>G (p.Leu187Val)	single nucleotide variant	not provided [RCV001212874]	Chr5:138812273 [GRCh38] Chr5:138147962 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2173G>A (p.Glu725Lys)	single nucleotide variant	not provided [RCV001229691]	Chr5:138930635 [GRCh38] Chr5:138266324 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138269481)_(138269778_?)del	deletion	not provided [RCV003107533]	Chr5:138269481..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138147862)_(138148001_?)del	deletion	not provided [RCV003107534]	Chr5:138147862..138148001 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138240028)_(138253597_?)del	deletion	not provided [RCV003107535]	Chr5:138240028..138253597 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138266509)_(138268411_?)del	deletion	not provided [RCV003107536]	Chr5:138266509..138268411 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138269471)_(138269778_?)dup	duplication	not provided [RCV003107537]	Chr5:138269471..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138253421)_(138269778_?)dup	duplication	not provided [RCV003107538]	Chr5:138253421..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138266142)_(138861289_?)dup	duplication	not provided [RCV003107539]	Chr5:138266142..138861289 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138148001_?)dup	duplication	not provided [RCV003107540]	Chr5:138117614..138148001 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138160508_?)dup	duplication	not provided [RCV003107541]	Chr5:138117614..138160508 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138269778_?)del	deletion	not provided [RCV003107542]	Chr5:138117614..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138253411)_(138269778_?)del	deletion	not provided [RCV003107543]	Chr5:138253411..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138260189)_(138269778_?)del	deletion	not provided [RCV003107544]	Chr5:138260189..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138145913_?)del	deletion	not provided [RCV003107545]	Chr5:138117614..138145913 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138287593_?)dup	duplication	not provided [RCV003107546]	Chr5:138117614..138287593 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138145717)_(138269778_?)dup	duplication	not provided [RCV003107547]	Chr5:138145717..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-142A>G	single nucleotide variant	not provided [RCV001583812]	Chr5:138925114 [GRCh38] Chr5:138260803 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-354A>G	single nucleotide variant	not provided [RCV001608645]	Chr5:138811829 [GRCh38] Chr5:138147518 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1546+84A>G	single nucleotide variant	not provided [RCV001569657]	Chr5:138917982 [GRCh38] Chr5:138253671 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.-3+216G>A	single nucleotide variant	not provided [RCV001545073]	Chr5:138753726 [GRCh38] Chr5:138089415 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-215dup	duplication	not provided [RCV001714519]	Chr5:138924282..138924283 [GRCh38] Chr5:138259971..138259972 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2434-10T>C	single nucleotide variant	not provided [RCV000883015]	Chr5:138933792 [GRCh38] Chr5:138269481 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1836C>T (p.Ile612=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409163]\|not provided [RCV000908344]	Chr5:138925344 [GRCh38] Chr5:138261033 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1044T>C (p.Leu348=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002390800]\|not provided [RCV000868917]	Chr5:138827700 [GRCh38] Chr5:138163389 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2013G>T (p.Ala671=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002415976]\|not provided [RCV000860852]	Chr5:138930475 [GRCh38] Chr5:138266164 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2193-10_2193-9delinsTC	indel	not provided [RCV000885997]	Chr5:138930820..138930821 [GRCh38] Chr5:138266509..138266510 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2679G>T (p.Pro893=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427180]\|not provided [RCV000871968]	Chr5:138934047 [GRCh38] Chr5:138269736 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.922C>T (p.Arg308Cys)	single nucleotide variant	CTNNA1-related condition [RCV003892782]\|Hereditary cancer-predisposing syndrome [RCV001019038]\|not provided [RCV000862020]	Chr5:138827578 [GRCh38] Chr5:138163267 [GRCh37] Chr5:5q31.2	benign\|likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.819A>T (p.Gly273=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027265]\|not provided [RCV000866533]	Chr5:138824760 [GRCh38] Chr5:138160449 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454018]\|Patterned macular dystrophy 2 [RCV002507520]\|not provided [RCV000872262]	Chr5:138933810 [GRCh38] Chr5:138269499 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-5A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017431]\|not provided [RCV000866733]	Chr5:138887485 [GRCh38] Chr5:138223174 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1389+10A>T	single nucleotide variant	not provided [RCV000870196]\|not specified [RCV002249561]	Chr5:138904451 [GRCh38] Chr5:138240140 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2368C>T (p.Leu790=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002444955]\|not provided [RCV000875309]	Chr5:138932647 [GRCh38] Chr5:138268336 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.336A>G (p.Ala112=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454119]\|not provided [RCV000932648]	Chr5:138810072 [GRCh38] Chr5:138145761 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1032G>T (p.Leu344=)	single nucleotide variant	CTNNA1-related condition [RCV003895297]\|Hereditary cancer-predisposing syndrome [RCV002390805]\|not provided [RCV000869275]	Chr5:138827688 [GRCh38] Chr5:138163377 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+8A>G	single nucleotide variant	not provided [RCV000875514]	Chr5:138904449 [GRCh38] Chr5:138240138 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1050G>A (p.Glu350=)	single nucleotide variant	not provided [RCV000980766]	Chr5:138827706 [GRCh38] Chr5:138163395 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2352C>G (p.Ala784=)	single nucleotide variant	not provided [RCV000932694]	Chr5:138932631 [GRCh38] Chr5:138268320 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.240G>A (p.Ala80=)	single nucleotide variant	CTNNA1-related condition [RCV003948128]\|Hereditary cancer-predisposing syndrome [RCV002442829]\|not provided [RCV000867113]	Chr5:138783311 [GRCh38] Chr5:138119000 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1132T>C (p.Leu378=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307767]\|not provided [RCV000975912]	Chr5:138886281 [GRCh38] Chr5:138221970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1965C>T (p.Ser655=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013888]\|Patterned macular dystrophy 2 [RCV003754888]\|not provided [RCV000860916]	Chr5:138929311 [GRCh38] Chr5:138265000 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.753G>A (p.Ala251=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026541]\|not provided [RCV000953883]	Chr5:138824694 [GRCh38] Chr5:138160383 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.228G>A (p.Gly76=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454006]\|not provided [RCV000870461]	Chr5:138783299 [GRCh38] Chr5:138118988 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.468+7dup	duplication	not provided [RCV000978043]	Chr5:138810210..138810211 [GRCh38] Chr5:138145899..138145900 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.795C>T (p.Asp265=)	single nucleotide variant	CTNNA1-related condition [RCV003948133]\|Hereditary cancer-predisposing syndrome [RCV002416021]\|not provided [RCV000867377]	Chr5:138824736 [GRCh38] Chr5:138160425 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.576C>T (p.Ala192=)	single nucleotide variant	not provided [RCV000978679]	Chr5:138812290 [GRCh38] Chr5:138147979 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2529C>T (p.Tyr843=)	single nucleotide variant	not provided [RCV000978109]	Chr5:138933897 [GRCh38] Chr5:138269586 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-10_1748-9del	deletion	CTNNA1-related condition [RCV003948080]\|not provided [RCV000862960]	Chr5:138925245..138925246 [GRCh38] Chr5:138260934..138260935 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1017T>C (p.Ala339=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346157]\|not provided [RCV000951800]	Chr5:138827673 [GRCh38] Chr5:138163362 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.120A>T (p.Val40=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354854]\|not provided [RCV000954818]	Chr5:138783191 [GRCh38] Chr5:138118880 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1310C>T (p.Ala437Val)	single nucleotide variant	CTNNA1-related condition [RCV003955652]\|Hereditary cancer-predisposing syndrome [RCV001010896]\|not provided [RCV000867733]	Chr5:138904362 [GRCh38] Chr5:138240051 [GRCh37] Chr5:5q31.2	benign\|likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.564C>T (p.Asn188=)	single nucleotide variant	not provided [RCV000977253]	Chr5:138812278 [GRCh38] Chr5:138147967 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2679G>A (p.Pro893=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002434318]\|not provided [RCV000952586]	Chr5:138934047 [GRCh38] Chr5:138269736 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2067C>T (p.Ala689=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416235]\|not provided [RCV000964785]	Chr5:138930529 [GRCh38] Chr5:138266218 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2307C>T (p.Asp769=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015148]\|not provided [RCV000872040]	Chr5:138932586 [GRCh38] Chr5:138268275 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.655C>T (p.Pro219Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025410]\|Patterned macular dystrophy 2 [RCV003754889]\|not provided [RCV000863897]	Chr5:138824596 [GRCh38] Chr5:138160285 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.630T>C (p.Ala210=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025124]\|not provided [RCV000940333]	Chr5:138824571 [GRCh38] Chr5:138160260 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+7A>G	single nucleotide variant	CTNNA1-related condition [RCV003965643]\|not provided [RCV000861671]	Chr5:138932719 [GRCh38] Chr5:138268408 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.792A>G (p.Ser264=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416065]\|not provided [RCV000874063]	Chr5:138824733 [GRCh38] Chr5:138160422 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.657G>T (p.Pro219=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363358]\|not provided [RCV000908880]	Chr5:138824598 [GRCh38] Chr5:138160287 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1209A>G (p.Val403=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346104]\|not provided [RCV000931437]	Chr5:138887555 [GRCh38] Chr5:138223244 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1995T>C (p.Ala665=)	single nucleotide variant	not provided [RCV000930194]	Chr5:138929341 [GRCh38] Chr5:138265030 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1732C>T (p.Leu578=)	single nucleotide variant	not provided [RCV000933488]	Chr5:138924695 [GRCh38] Chr5:138260384 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-208G>C	single nucleotide variant	not provided [RCV001665189]	Chr5:138824322 [GRCh38] Chr5:138160011 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.902T>G (p.Phe301Cys)	single nucleotide variant	not provided [RCV001247248]	Chr5:138827558 [GRCh38] Chr5:138163247 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1205T>G (p.Leu402Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348467]\|not provided [RCV001067131]	Chr5:138887551 [GRCh38] Chr5:138223240 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1540G>A (p.Val514Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402624]\|not provided [RCV001210574]	Chr5:138917892 [GRCh38] Chr5:138253581 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.215T>G (p.Phe72Cys)	single nucleotide variant	not provided [RCV001226128]	Chr5:138783286 [GRCh38] Chr5:138118975 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1681G>C (p.Asp561His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402778]\|not provided [RCV001244343]	Chr5:138924644 [GRCh38] Chr5:138260333 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.388G>A (p.Ala130Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003373073]\|not provided [RCV001235863]	Chr5:138810124 [GRCh38] Chr5:138145813 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2639C>G (p.Thr880Ser)	single nucleotide variant	not provided [RCV001242434]	Chr5:138934007 [GRCh38] Chr5:138269696 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.142T>C (p.Ser48Pro)	single nucleotide variant	not provided [RCV001243265]	Chr5:138783213 [GRCh38] Chr5:138118902 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1131C>G (p.Asp377Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294142]\|not provided [RCV001245024]	Chr5:138886280 [GRCh38] Chr5:138221969 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2719dup (p.Ter907LeuextTer?)	duplication	Hereditary cancer-predisposing syndrome [RCV002429947]\|not provided [RCV001223194]	Chr5:138934086..138934087 [GRCh38] Chr5:138269775..138269776 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.571G>A (p.Ala191Thr)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003473779]\|not provided [RCV001223195]	Chr5:138812285 [GRCh38] Chr5:138147974 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.91C>T (p.Pro31Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380844]\|not provided [RCV001071044]	Chr5:138782015 [GRCh38] Chr5:138117704 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2317A>G (p.Lys773Glu)	single nucleotide variant	not provided [RCV001236958]	Chr5:138932596 [GRCh38] Chr5:138268285 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.855T>G (p.Phe285Leu)	single nucleotide variant	not provided [RCV001216814]	Chr5:138824796 [GRCh38] Chr5:138160485 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1783G>A (p.Val595Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411757]\|not provided [RCV001205800]	Chr5:138925291 [GRCh38] Chr5:138260980 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1021C>T (p.Arg341Cys)	single nucleotide variant	not provided [RCV001071669]	Chr5:138827677 [GRCh38] Chr5:138163366 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.157G>A (p.Gly53Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002393601]\|not provided [RCV001237097]	Chr5:138783228 [GRCh38] Chr5:138118917 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2177T>G (p.Met726Arg)	single nucleotide variant	not provided [RCV001234290]	Chr5:138930639 [GRCh38] Chr5:138266328 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.665A>G (p.Tyr222Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002365708]\|not provided [RCV001055032]	Chr5:138824606 [GRCh38] Chr5:138160295 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.763A>G (p.Ile255Val)	single nucleotide variant	not provided [RCV001237487]	Chr5:138824704 [GRCh38] Chr5:138160393 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-5C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418707]\|not provided [RCV001209250]	Chr5:138930468 [GRCh38] Chr5:138266157 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1078_1081del (p.Arg360fs)	microsatellite	not provided [RCV001057098]	Chr5:138886221..138886224 [GRCh38] Chr5:138221910..138221913 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.47A>C (p.Lys16Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339602]\|not provided [RCV001224631]	Chr5:138781971 [GRCh38] Chr5:138117660 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2708T>C (p.Met903Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436874]\|not provided [RCV001224678]	Chr5:138934076 [GRCh38] Chr5:138269765 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.977G>A (p.Arg326His)	single nucleotide variant	not provided [RCV001224844]	Chr5:138827633 [GRCh38] Chr5:138163322 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.818G>A (p.Gly273Glu)	single nucleotide variant	not provided [RCV001224880]	Chr5:138824759 [GRCh38] Chr5:138160448 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1424C>A (p.Pro475Gln)	single nucleotide variant	not provided [RCV001225128]	Chr5:138917776 [GRCh38] Chr5:138253465 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2213A>G (p.Asn738Ser)	single nucleotide variant	not provided [RCV001211904]	Chr5:138930850 [GRCh38] Chr5:138266539 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1390-10T>C	single nucleotide variant	not provided [RCV001244009]	Chr5:138917732 [GRCh38] Chr5:138253421 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.731T>C (p.Ile244Thr)	single nucleotide variant	not provided [RCV001059945]	Chr5:138824672 [GRCh38] Chr5:138160361 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.555T>C (p.Asp185=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307722]\|not provided [RCV000934651]	Chr5:138812269 [GRCh38] Chr5:138147958 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.510A>G (p.Glu170=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023555]\|not provided [RCV000955645]	Chr5:138812224 [GRCh38] Chr5:138147913 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.952T>C (p.Leu318=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372600]\|not provided [RCV000933872]	Chr5:138827608 [GRCh38] Chr5:138163297 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.867C>A (p.Ile289=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445014]\|not provided [RCV000912684]	Chr5:138827523 [GRCh38] Chr5:138163212 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.378G>T (p.Arg126=)	single nucleotide variant	not provided [RCV000934717]	Chr5:138810114 [GRCh38] Chr5:138145803 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2265G>A (p.Arg755=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445013]\|not provided [RCV000912431]	Chr5:138930902 [GRCh38] Chr5:138266591 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1311C>G (p.Ala437=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382038]\|not provided [RCV000890627]	Chr5:138904363 [GRCh38] Chr5:138240052 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity
NM_001903.5(CTNNA1):c.588+45A>G	single nucleotide variant	not provided [RCV001564992]	Chr5:138812347 [GRCh38] Chr5:138148036 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+73T>C	single nucleotide variant	not provided [RCV001641152]	Chr5:138812375 [GRCh38] Chr5:138148064 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2011-96A>G	single nucleotide variant	not provided [RCV001620087]	Chr5:138930377 [GRCh38] Chr5:138266066 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.302-267C>T	single nucleotide variant	not provided [RCV001718069]	Chr5:138809771 [GRCh38] Chr5:138145460 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.589-163A>G	single nucleotide variant	not provided [RCV001718070]	Chr5:138824367 [GRCh38] Chr5:138160056 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2299-75T>A	single nucleotide variant	not provided [RCV001659427]	Chr5:138932503 [GRCh38] Chr5:138268192 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1547-216_1547-215dup	duplication	not provided [RCV001598016]	Chr5:138924282..138924283 [GRCh38] Chr5:138259971..138259972 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1296+302A>G	single nucleotide variant	not provided [RCV001670608]	Chr5:138887944 [GRCh38] Chr5:138223633 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1547-208del	deletion	not provided [RCV001676452]	Chr5:138924301 [GRCh38] Chr5:138259990 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.16G>A (p.Ala6Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012793]\|not provided [RCV001057956]	Chr5:138781940 [GRCh38] Chr5:138117629 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1747+4C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012994]\|not provided [RCV001207803]	Chr5:138924714 [GRCh38] Chr5:138260403 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1908G>A (p.Glu636=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013648]\|not provided [RCV001411872]	Chr5:138929254 [GRCh38] Chr5:138264943 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1912T>C (p.Leu638=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013673]\|not provided [RCV001461099]	Chr5:138929258 [GRCh38] Chr5:138264947 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.795C>A (p.Asp265Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026995]\|not provided [RCV001065973]	Chr5:138824736 [GRCh38] Chr5:138160425 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1994C>T (p.Ala665Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013960]	Chr5:138929340 [GRCh38] Chr5:138265029 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.530A>G (p.Tyr177Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023897]\|not provided [RCV001304798]	Chr5:138812244 [GRCh38] Chr5:138147933 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.362G>A (p.Arg121Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001020757]\|not provided [RCV001052007]	Chr5:138810098 [GRCh38] Chr5:138145787 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.233A>C (p.Lys78Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015224]\|not provided [RCV001321246]	Chr5:138783304 [GRCh38] Chr5:138118993 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2400G>A (p.Val800=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015416]\|not provided [RCV001443099]	Chr5:138932679 [GRCh38] Chr5:138268368 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity
NM_001903.5(CTNNA1):c.1389+4A>G	single nucleotide variant	not provided [RCV001061669]	Chr5:138904445 [GRCh38] Chr5:138240134 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1660C>T (p.His554Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402438]\|not provided [RCV001061949]	Chr5:138924623 [GRCh38] Chr5:138260312 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.74T>C (p.Val25Ala)	single nucleotide variant	not provided [RCV001055005]	Chr5:138781998 [GRCh38] Chr5:138117687 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1643G>A (p.Arg548Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400316]\|not provided [RCV001055260]	Chr5:138924606 [GRCh38] Chr5:138260295 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1389+6G>C	single nucleotide variant	not provided [RCV001062796]	Chr5:138904447 [GRCh38] Chr5:138240136 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1088C>T (p.Ala363Val)	single nucleotide variant	not provided [RCV001062833]	Chr5:138886237 [GRCh38] Chr5:138221926 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1147C>T (p.Arg383Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017467]\|Patterned macular dystrophy 2 [RCV003473581]\|not provided [RCV001320380]	Chr5:138887493 [GRCh38] Chr5:138223182 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.675C>G (p.Ser225=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025618]\|not provided [RCV002551932]	Chr5:138824616 [GRCh38] Chr5:138160305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1599G>C (p.Lys533Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012365]\|not provided [RCV001063989]	Chr5:138924562 [GRCh38] Chr5:138260251 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.*380C>T	single nucleotide variant	not provided [RCV001645721]	Chr5:138934469 [GRCh38] Chr5:138270158 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.292C>G (p.Arg98Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436647]\|not provided [RCV001062438]	Chr5:138783363 [GRCh38] Chr5:138119052 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+330T>C	single nucleotide variant	not provided [RCV001680526]	Chr5:138810534 [GRCh38] Chr5:138146223 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1389+6G>A	single nucleotide variant	Retinal dystrophy [RCV001075523]\|not provided [RCV001041980]	Chr5:138904447 [GRCh38] Chr5:138240136 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1547-214A>T	single nucleotide variant	not provided [RCV001693218]	Chr5:138924296 [GRCh38] Chr5:138259985 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.520G>C (p.Gly174Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023733]\|not provided [RCV001360973]	Chr5:138812234 [GRCh38] Chr5:138147923 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.338A>G (p.Asp113Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002451302]\|not provided [RCV001069296]	Chr5:138810074 [GRCh38] Chr5:138145763 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1282A>G (p.Asn428Asp)	single nucleotide variant	not provided [RCV001069782]	Chr5:138887628 [GRCh38] Chr5:138223317 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+220A>G	single nucleotide variant	not provided [RCV001667562]	Chr5:138782249 [GRCh38] Chr5:138117938 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2434-264C>A	single nucleotide variant	not provided [RCV001546429]	Chr5:138933538 [GRCh38] Chr5:138269227 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.212A>C (p.Asn71Thr)	single nucleotide variant	not provided [RCV001058072]	Chr5:138783283 [GRCh38] Chr5:138118972 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1641C>T (p.Gly547=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402455]\|not provided [RCV001065798]	Chr5:138924604 [GRCh38] Chr5:138260293 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1062+169T>C	single nucleotide variant	not provided [RCV001539188]	Chr5:138827887 [GRCh38] Chr5:138163576 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.161G>A (p.Arg54His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402428]\|Patterned macular dystrophy 2 [RCV003473669]\|not provided [RCV001059776]	Chr5:138783232 [GRCh38] Chr5:138118921 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2431G>A (p.Gly811Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002451287]\|not provided [RCV001066447]	Chr5:138932710 [GRCh38] Chr5:138268399 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1887G>A (p.Val629=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013558]\|not provided [RCV001431806]	Chr5:138925395 [GRCh38] Chr5:138261084 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.90G>T (p.Glu30Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294158]\|not provided [RCV001248702]	Chr5:138782014 [GRCh38] Chr5:138117703 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1852G>C (p.Val618Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411739]\|not provided [RCV001202938]	Chr5:138925360 [GRCh38] Chr5:138261049 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1622C>T (p.Thr541Ile)	single nucleotide variant	not provided [RCV001212236]	Chr5:138924585 [GRCh38] Chr5:138260274 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.778C>T (p.Gln260Ter)	single nucleotide variant	not provided [RCV001229834]	Chr5:138824719 [GRCh38] Chr5:138160408 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.497A>G (p.Asn166Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160553]\|not provided [RCV001067111]	Chr5:138812211 [GRCh38] Chr5:138147900 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.71C>A (p.Ala24Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372765]\|not provided [RCV001039296]	Chr5:138781995 [GRCh38] Chr5:138117684 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2345G>A (p.Arg782His)	single nucleotide variant	not provided [RCV001047381]	Chr5:138932624 [GRCh38] Chr5:138268313 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.428A>G (p.Asp143Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002327492]\|not provided [RCV001212435]	Chr5:138810164 [GRCh38] Chr5:138145853 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.43C>T (p.Pro15Ser)	single nucleotide variant	not provided [RCV001048248]	Chr5:138781967 [GRCh38] Chr5:138117656 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.796G>A (p.Asp266Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418527]\|not provided [RCV001062562]	Chr5:138824737 [GRCh38] Chr5:138160426 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.779A>G (p.Gln260Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411759]\|not provided [RCV001206587]	Chr5:138824720 [GRCh38] Chr5:138160409 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.610C>T (p.Arg204Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002356988]\|not provided [RCV001229985]	Chr5:138824551 [GRCh38] Chr5:138160240 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1286A>G (p.Lys429Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379804]\|not provided [RCV001212622]	Chr5:138887632 [GRCh38] Chr5:138223321 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.434C>T (p.Ala145Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003163695]\|not provided [RCV001220254]	Chr5:138810170 [GRCh38] Chr5:138145859 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2382C>T (p.Ser794=)	single nucleotide variant	not provided [RCV001220256]	Chr5:138932661 [GRCh38] Chr5:138268350 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1220C>T (p.Ala407Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002355106]\|Retinal dystrophy [RCV001074828]\|not provided [RCV001240502]	Chr5:138887566 [GRCh38] Chr5:138223255 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1612C>G (p.Leu538Val)	single nucleotide variant	not provided [RCV001216256]	Chr5:138924575 [GRCh38] Chr5:138260264 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.659T>C (p.Ile220Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002375248]\|not provided [RCV001235911]	Chr5:138824600 [GRCh38] Chr5:138160289 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.481A>G (p.Ile161Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339250]\|not provided [RCV001049364]	Chr5:138812195 [GRCh38] Chr5:138147884 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1768C>T (p.Gln590Ter)	single nucleotide variant	not provided [RCV001229912]	Chr5:138925276 [GRCh38] Chr5:138260965 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2357A>T (p.Tyr786Phe)	single nucleotide variant	not provided [RCV001201809]	Chr5:138932636 [GRCh38] Chr5:138268325 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2549C>T (p.Ala850Val)	single nucleotide variant	not provided [RCV001220043]	Chr5:138933917 [GRCh38] Chr5:138269606 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1393A>G (p.Ile465Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391121]\|not provided [RCV001041404]	Chr5:138917745 [GRCh38] Chr5:138253434 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2191C>A (p.Arg731=)	single nucleotide variant	not provided [RCV001049938]	Chr5:138930653 [GRCh38] Chr5:138266342 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2220G>A (p.Ser740=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014842]\|Patterned macular dystrophy 2 [RCV003754904]\|not provided [RCV001519746]	Chr5:138930857 [GRCh38] Chr5:138266546 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1304A>G (p.Asn435Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379619]\|Patterned macular dystrophy 2 [RCV003473698]\|not provided [RCV001069892]	Chr5:138904356 [GRCh38] Chr5:138240045 [GRCh37] Chr5:5q31.2	benign\|uncertain significance
NM_001903.5(CTNNA1):c.2536T>G (p.Ser846Ala)	single nucleotide variant	not provided [RCV001070524]	Chr5:138933904 [GRCh38] Chr5:138269593 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1451T>C (p.Met484Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391123]\|not provided [RCV001042012]	Chr5:138917803 [GRCh38] Chr5:138253492 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.13C>T (p.His5Tyr)	single nucleotide variant	not provided [RCV001042158]	Chr5:138781937 [GRCh38] Chr5:138117626 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.370A>T (p.Met124Leu)	single nucleotide variant	not provided [RCV001050567]	Chr5:138810106 [GRCh38] Chr5:138145795 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+6A>C	single nucleotide variant	not provided [RCV001050606]	Chr5:138782035 [GRCh38] Chr5:138117724 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.407C>A (p.Thr136Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002320283]\|not provided [RCV001051058]	Chr5:138810143 [GRCh38] Chr5:138145832 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.281T>C (p.Val94Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003293995]\|not provided [RCV001202811]	Chr5:138783352 [GRCh38] Chr5:138119041 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1083T>G (p.Ser361Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430005]\|not provided [RCV001234935]	Chr5:138886232 [GRCh38] Chr5:138221921 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1733T>C (p.Leu578Pro)	single nucleotide variant	not provided [RCV001043072]	Chr5:138924696 [GRCh38] Chr5:138260385 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1082G>A (p.Ser361Asn)	single nucleotide variant	not provided [RCV001043169]	Chr5:138886231 [GRCh38] Chr5:138221920 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.201A>G (p.Gln67=)	single nucleotide variant	not provided [RCV001051474]	Chr5:138783272 [GRCh38] Chr5:138118961 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1283A>G (p.Asn428Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379550]\|not provided [RCV001051705]	Chr5:138887629 [GRCh38] Chr5:138223318 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.132T>A (p.Ser44Arg)	single nucleotide variant	not provided [RCV001051719]	Chr5:138783203 [GRCh38] Chr5:138118892 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.476A>T (p.Asp159Val)	single nucleotide variant	not provided [RCV001051746]	Chr5:138812190 [GRCh38] Chr5:138147879 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.676C>G (p.Gln226Glu)	single nucleotide variant	not provided [RCV001051785]	Chr5:138824617 [GRCh38] Chr5:138160306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1061A>G (p.Asn354Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400297]\|not provided [RCV001051862]	Chr5:138827717 [GRCh38] Chr5:138163406 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1378C>G (p.Leu460Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379779]\|not provided [RCV001205523]	Chr5:138904430 [GRCh38] Chr5:138240119 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1261C>T (p.Gln421Ter)	single nucleotide variant	not provided [RCV001043822]	Chr5:138887607 [GRCh38] Chr5:138223296 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1757G>A (p.Arg586His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411796]\|not provided [RCV001215654]	Chr5:138925265 [GRCh38] Chr5:138260954 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2695G>A (p.Glu899Lys)	single nucleotide variant	not provided [RCV001044819]	Chr5:138934063 [GRCh38] Chr5:138269752 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2447T>C (p.Met816Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002429920]\|not provided [RCV001216029]	Chr5:138933815 [GRCh38] Chr5:138269504 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.386G>A (p.Arg129Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002355010]\|not provided [RCV001044997]	Chr5:138810122 [GRCh38] Chr5:138145811 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.280G>A (p.Val94Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436837]\|not provided [RCV001218110]	Chr5:138783351 [GRCh38] Chr5:138119040 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.277G>A (p.Ala93Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003163687]\|not provided [RCV001219387]	Chr5:138783348 [GRCh38] Chr5:138119037 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1010del (p.Cys337fs)	deletion	not provided [RCV001235309]	Chr5:138827666 [GRCh38] Chr5:138163355 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1748T>G (p.Val583Gly)	single nucleotide variant	not provided [RCV001045639]	Chr5:138925256 [GRCh38] Chr5:138260945 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.847A>G (p.Asn283Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445246]\|not provided [RCV001045811]	Chr5:138824788 [GRCh38] Chr5:138160477 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1852G>A (p.Val618Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160344]\|not provided [RCV001045889]	Chr5:138925360 [GRCh38] Chr5:138261049 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.667A>G (p.Thr223Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025523]\|not provided [RCV001204944]	Chr5:138824608 [GRCh38] Chr5:138160297 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.544C>T (p.Pro182Ser)	single nucleotide variant	not provided [RCV001207117]	Chr5:138812258 [GRCh38] Chr5:138147947 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1178C>A (p.Ser393Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339574]\|not provided [RCV001218550]	Chr5:138887524 [GRCh38] Chr5:138223213 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1596G>A (p.Glu532=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012325]\|not provided [RCV002549368]	Chr5:138924559 [GRCh38] Chr5:138260248 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.160C>T (p.Arg54Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012405]\|not provided [RCV001043514]	Chr5:138783231 [GRCh38] Chr5:138118920 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2704del (p.Ala902fs)	deletion	not provided [RCV001246588]	Chr5:138934072 [GRCh38] Chr5:138269761 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.432G>A (p.Met144Ile)	single nucleotide variant	not provided [RCV001218568]	Chr5:138810168 [GRCh38] Chr5:138145857 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1619G>C (p.Arg540Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400267]\|not provided [RCV001046542]	Chr5:138924582 [GRCh38] Chr5:138260271 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1693C>T (p.Pro565Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012773]\|not provided [RCV001343598]	Chr5:138924656 [GRCh38] Chr5:138260345 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.719A>G (p.Asn240Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026140]\|not provided [RCV001217792]	Chr5:138824660 [GRCh38] Chr5:138160349 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2350G>T (p.Ala784Ser)	single nucleotide variant	not provided [RCV001211276]	Chr5:138932629 [GRCh38] Chr5:138268318 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1102A>G (p.Ile368Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002429923]\|Patterned macular dystrophy 2 [RCV003473767]\|not provided [RCV001216841]	Chr5:138886251 [GRCh38] Chr5:138221940 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.601G>C (p.Val201Leu)	single nucleotide variant	not provided [RCV001039035]	Chr5:138824542 [GRCh38] Chr5:138160231 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2655_2657dup (p.Ser886dup)	duplication	not provided [RCV001039040]	Chr5:138934021..138934022 [GRCh38] Chr5:138269710..138269711 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1958G>C (p.Arg653Thr)	single nucleotide variant	not provided [RCV001034755]	Chr5:138929304 [GRCh38] Chr5:138264993 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.900_923del (p.Phe301_Arg308del)	deletion	not provided [RCV001246119]	Chr5:138827548..138827571 [GRCh38] Chr5:138163237..138163260 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899+1G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013548]\|not provided [RCV001365464]	Chr5:138925408 [GRCh38] Chr5:138261097 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1959G>A (p.Arg653=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013843]\|not provided [RCV001471682]	Chr5:138929305 [GRCh38] Chr5:138264994 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1966G>A (p.Val656Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013890]\|not provided [RCV001059291]	Chr5:138929312 [GRCh38] Chr5:138265001 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.122A>G (p.Asn41Ser)	single nucleotide variant	not provided [RCV001068773]	Chr5:138783193 [GRCh38] Chr5:138118882 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2055G>T (p.Ala685=)	single nucleotide variant	CTNNA1-related condition [RCV003962992]\|Hereditary cancer-predisposing syndrome [RCV001014250]\|not provided [RCV001432287]	Chr5:138930517 [GRCh38] Chr5:138266206 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+1G>A	single nucleotide variant	not provided [RCV001230092]	Chr5:138932713 [GRCh38] Chr5:138268402 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1651C>T (p.Arg551Trp)	single nucleotide variant	not provided [RCV001037114]	Chr5:138924614 [GRCh38] Chr5:138260303 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1855T>C (p.Tyr619His)	single nucleotide variant	not provided [RCV001214613]	Chr5:138925363 [GRCh38] Chr5:138261052 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.153G>T (p.Lys51Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402644]\|not provided [RCV001215374]	Chr5:138783224 [GRCh38] Chr5:138118913 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1291A>G (p.Ile431Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010794]\|Patterned macular dystrophy 2 [RCV003473564]\|not provided [RCV001305006]	Chr5:138887637 [GRCh38] Chr5:138223326 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.563A>G (p.Asn188Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024351]\|not provided [RCV001218313]	Chr5:138812277 [GRCh38] Chr5:138147966 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1069C>T (p.Arg357Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017186]\|Patterned macular dystrophy 2 [RCV003473579]\|not provided [RCV001047715]	Chr5:138886218 [GRCh38] Chr5:138221907 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2193-3C>G	single nucleotide variant	not provided [RCV001232463]	Chr5:138930827 [GRCh38] Chr5:138266516 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-4_106-3del	deletion	not provided [RCV001062619]	Chr5:138783171..138783172 [GRCh38] Chr5:138118860..138118861 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.724G>C (p.Asp242His)	single nucleotide variant	not provided [RCV001040326]	Chr5:138824665 [GRCh38] Chr5:138160354 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.302-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002434458]\|not provided [RCV001040795]	Chr5:138810035 [GRCh38] Chr5:138145724 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1804C>T (p.Pro602Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411742]\|not provided [RCV001203149]	Chr5:138925312 [GRCh38] Chr5:138261001 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.10:g.(?_138904339)_(138934089_?)dup	duplication	not provided [RCV001032536]	Chr5:138240028..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1685A>G (p.Asn562Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409393]\|not provided [RCV001041137]	Chr5:138924648 [GRCh38] Chr5:138260337 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.14A>G (p.His5Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011914]\|not provided [RCV002551751]	Chr5:138781938 [GRCh38] Chr5:138117627 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.652G>A (p.Val218Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025375]\|not provided [RCV001358861]	Chr5:138824593 [GRCh38] Chr5:138160282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.898C>T (p.Arg300Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018590]\|not provided [RCV001042303]	Chr5:138827554 [GRCh38] Chr5:138163243 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.700G>A (p.Val234Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002365972]\|not provided [RCV001215897]	Chr5:138824641 [GRCh38] Chr5:138160330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.670G>A (p.Ala224Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363583]\|not provided [RCV001042468]	Chr5:138824611 [GRCh38] Chr5:138160300 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)	microsatellite	Hereditary cancer-predisposing syndrome [RCV002379811]\|Hereditary diffuse gastric adenocarcinoma [RCV003449677]\|not provided [RCV001214346]	Chr5:138887633..138887636 [GRCh38] Chr5:138223322..138223325 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.420T>G (p.Ile140Met)	single nucleotide variant	not provided [RCV001214368]	Chr5:138810156 [GRCh38] Chr5:138145845 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3	copy number gain	not provided [RCV001259915]	Chr5:138101724..138876953 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.262G>C (p.Glu88Gln)	single nucleotide variant	not provided [RCV001303860]	Chr5:138783333 [GRCh38] Chr5:138119022 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1847G>A (p.Arg616His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411964]\|not provided [RCV001303444]	Chr5:138925355 [GRCh38] Chr5:138261044 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1991dup (p.Ala665fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002420766]\|not provided [RCV001352297]	Chr5:138929336..138929337 [GRCh38] Chr5:138265025..138265026 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1547-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402932]\|not provided [RCV001338146]	Chr5:138924507 [GRCh38] Chr5:138260196 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1997del (p.Gly666fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003449845]\|not provided [RCV001295219]	Chr5:138929342 [GRCh38] Chr5:138265031 [GRCh37] Chr5:5q31.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1295A>G (p.Glu432Gly)	single nucleotide variant	not provided [RCV001316678]	Chr5:138887641 [GRCh38] Chr5:138223330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2240A>G (p.Lys747Arg)	single nucleotide variant	not provided [RCV001317470]	Chr5:138930877 [GRCh38] Chr5:138266566 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.26T>C (p.Ile9Thr)	single nucleotide variant	not provided [RCV001301575]	Chr5:138781950 [GRCh38] Chr5:138117639 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.648del (p.Asn217fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003375217]\|not provided [RCV001320158]	Chr5:138824589 [GRCh38] Chr5:138160278 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1337G>A (p.Gly446Asp)	single nucleotide variant	not provided [RCV001300772]	Chr5:138904389 [GRCh38] Chr5:138240078 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.446A>C (p.Lys149Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002327679]\|not provided [RCV001307807]	Chr5:138810182 [GRCh38] Chr5:138145871 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.732A>G (p.Ile244Met)	single nucleotide variant	not provided [RCV001327789]	Chr5:138824673 [GRCh38] Chr5:138160362 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1240A>G (p.Lys414Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003373103]\|not provided [RCV001298421]	Chr5:138887586 [GRCh38] Chr5:138223275 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.722G>A (p.Arg241Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002375409]\|not provided [RCV001317738]	Chr5:138824663 [GRCh38] Chr5:138160352 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.272T>C (p.Val91Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438730]\|not provided [RCV001320644]	Chr5:138783343 [GRCh38] Chr5:138119032 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.605G>A (p.Gly202Asp)	single nucleotide variant	not provided [RCV001341817]	Chr5:138824546 [GRCh38] Chr5:138160235 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1109A>C (p.Lys370Thr)	single nucleotide variant	not provided [RCV001341818]	Chr5:138886258 [GRCh38] Chr5:138221947 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.737dup (p.Gln247fs)	duplication	not provided [RCV001338807]	Chr5:138824676..138824677 [GRCh38] Chr5:138160365..138160366 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.163T>G (p.Ser55Ala)	single nucleotide variant	not provided [RCV001308360]	Chr5:138783234 [GRCh38] Chr5:138118923 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+5G>C	single nucleotide variant	not provided [RCV001298900]	Chr5:138782034 [GRCh38] Chr5:138117723 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1135C>G (p.Arg379Gly)	single nucleotide variant	Inborn genetic diseases [RCV002547523]\|Patterned macular dystrophy 2 [RCV003473874]\|not provided [RCV001351290]	Chr5:138886284 [GRCh38] Chr5:138221973 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1642C>T (p.Arg548Trp)	single nucleotide variant	not provided [RCV001318181]	Chr5:138924605 [GRCh38] Chr5:138260294 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.769A>C (p.Asn257His)	single nucleotide variant	not provided [RCV001351008]	Chr5:138824710 [GRCh38] Chr5:138160399 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2519C>G (p.Ser840Cys)	single nucleotide variant	not provided [RCV001337671]	Chr5:138933887 [GRCh38] Chr5:138269576 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2325C>A (p.Asp775Glu)	single nucleotide variant	not provided [RCV001320073]	Chr5:138932604 [GRCh38] Chr5:138268293 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.284A>G (p.Glu95Gly)	single nucleotide variant	not provided [RCV001342200]	Chr5:138783355 [GRCh38] Chr5:138119044 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.407C>G (p.Thr136Ser)	single nucleotide variant	not provided [RCV001305988]	Chr5:138810143 [GRCh38] Chr5:138145832 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+3A>G	single nucleotide variant	not provided [RCV001299775]	Chr5:138932715 [GRCh38] Chr5:138268404 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2567C>T (p.Ala856Val)	single nucleotide variant	not provided [RCV001349085]	Chr5:138933935 [GRCh38] Chr5:138269624 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.329A>G (p.Glu110Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002322253]\|not provided [RCV001325715]	Chr5:138810065 [GRCh38] Chr5:138145754 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.395T>C (p.Leu132Pro)	single nucleotide variant	not provided [RCV001343135]	Chr5:138810131 [GRCh38] Chr5:138145820 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2697G>T (p.Glu899Asp)	single nucleotide variant	not provided [RCV001299214]	Chr5:138934065 [GRCh38] Chr5:138269754 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899G>C (p.Arg633Ser)	single nucleotide variant	not provided [RCV001306751]	Chr5:138925407 [GRCh38] Chr5:138261096 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2341C>G (p.Gln781Glu)	single nucleotide variant	not provided [RCV001318595]	Chr5:138932620 [GRCh38] Chr5:138268309 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2232T>G (p.Ser744Arg)	single nucleotide variant	not provided [RCV001325908]	Chr5:138930869 [GRCh38] Chr5:138266558 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1018G>C (p.Val340Leu)	single nucleotide variant	not provided [RCV001313988]	Chr5:138827674 [GRCh38] Chr5:138163363 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2432G>C (p.Gly811Ala)	single nucleotide variant	not provided [RCV001318086]	Chr5:138932711 [GRCh38] Chr5:138268400 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2179A>G (p.Thr727Ala)	single nucleotide variant	not provided [RCV001343574]	Chr5:138930641 [GRCh38] Chr5:138266330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1880A>G (p.Lys627Arg)	single nucleotide variant	not provided [RCV001307058]	Chr5:138925388 [GRCh38] Chr5:138261077 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2659C>T (p.Gln887Ter)	single nucleotide variant	not provided [RCV001341122]	Chr5:138934027 [GRCh38] Chr5:138269716 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1063-3C>T	single nucleotide variant	not provided [RCV001321733]	Chr5:138886209 [GRCh38] Chr5:138221898 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2543G>A (p.Gly848Asp)	single nucleotide variant	not provided [RCV001313013]	Chr5:138933911 [GRCh38] Chr5:138269600 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.620T>C (p.Met207Thr)	single nucleotide variant	not provided [RCV001306422]	Chr5:138824561 [GRCh38] Chr5:138160250 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.300A>T (p.Gln100His)	single nucleotide variant	not provided [RCV001300800]	Chr5:138783371 [GRCh38] Chr5:138119060 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088]	Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_001903.5(CTNNA1):c.2505A>G (p.Ala835=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432078]\|not provided [RCV001391728]	Chr5:138933873 [GRCh38] Chr5:138269562 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1382G>C (p.Cys461Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384392]\|not provided [RCV001313931]	Chr5:138904434 [GRCh38] Chr5:138240123 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.608A>C (p.His203Pro)	single nucleotide variant	not provided [RCV001315726]	Chr5:138824549 [GRCh38] Chr5:138160238 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1828G>C (p.Glu610Gln)	single nucleotide variant	not provided [RCV001372206]	Chr5:138925336 [GRCh38] Chr5:138261025 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.515A>T (p.Asp172Val)	single nucleotide variant	not provided [RCV001373293]	Chr5:138812229 [GRCh38] Chr5:138147918 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.145A>G (p.Asn49Asp)	single nucleotide variant	not provided [RCV001324654]	Chr5:138783216 [GRCh38] Chr5:138118905 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002420976]\|not provided [RCV001433043]	Chr5:138930469 [GRCh38] Chr5:138266158 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.859-9T>C	single nucleotide variant	not provided [RCV001433828]	Chr5:138827506 [GRCh38] Chr5:138163195 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.393G>A (p.Leu131=)	single nucleotide variant	not provided [RCV001392518]	Chr5:138810129 [GRCh38] Chr5:138145818 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.20G>A (p.Gly7Asp)	single nucleotide variant	not provided [RCV001326720]	Chr5:138781944 [GRCh38] Chr5:138117633 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1631C>T (p.Ala544Val)	single nucleotide variant	not provided [RCV001306894]	Chr5:138924594 [GRCh38] Chr5:138260283 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1714G>A (p.Val572Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375204]\|not provided [RCV001308145]	Chr5:138924677 [GRCh38] Chr5:138260366 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.652G>T (p.Val218Phe)	single nucleotide variant	not provided [RCV001372295]	Chr5:138824593 [GRCh38] Chr5:138160282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1546+15C>T	single nucleotide variant	not provided [RCV001396605]	Chr5:138917913 [GRCh38] Chr5:138253602 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2343A>C (p.Gln781His)	single nucleotide variant	not provided [RCV001316063]	Chr5:138932622 [GRCh38] Chr5:138268311 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.431T>C (p.Met144Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375233]\|not provided [RCV001338237]	Chr5:138810167 [GRCh38] Chr5:138145856 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1662C>T (p.His554=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002404964]\|not provided [RCV001412599]	Chr5:138924625 [GRCh38] Chr5:138260314 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.865A>G (p.Ile289Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447499]\|not provided [RCV001374200]	Chr5:138827521 [GRCh38] Chr5:138163210 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.165T>C (p.Ser55=)	single nucleotide variant	not provided [RCV001396965]	Chr5:138783236 [GRCh38] Chr5:138118925 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2242A>C (p.Lys748Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169739]\|not provided [RCV001350866]	Chr5:138930879 [GRCh38] Chr5:138266568 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.616C>T (p.Gln206Ter)	single nucleotide variant	not provided [RCV001369125]	Chr5:138824557 [GRCh38] Chr5:138160246 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.53T>C (p.Leu18Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350705]\|not provided [RCV001368275]	Chr5:138781977 [GRCh38] Chr5:138117666 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-6T>C	single nucleotide variant	not provided [RCV001414279]	Chr5:138812177 [GRCh38] Chr5:138147866 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1449C>T (p.Asn483=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002395966]\|not provided [RCV001422177]	Chr5:138917801 [GRCh38] Chr5:138253490 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.995G>T (p.Arg332Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169885]\|not provided [RCV001368741]	Chr5:138827651 [GRCh38] Chr5:138163340 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899+9C>G	single nucleotide variant	not provided [RCV001396985]	Chr5:138925416 [GRCh38] Chr5:138261105 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2181_2184del (p.Asp728fs)	deletion	not provided [RCV001296123]	Chr5:138930640..138930643 [GRCh38] Chr5:138266329..138266332 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438828]\|Hereditary diffuse gastric adenocarcinoma [RCV003136022]\|not provided [RCV001359080]	Chr5:138783363 [GRCh38] Chr5:138119052 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.603T>C (p.Val201=)	single nucleotide variant	not provided [RCV001413322]	Chr5:138824544 [GRCh38] Chr5:138160233 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2212A>C (p.Asn738His)	single nucleotide variant	not provided [RCV001368888]	Chr5:138930849 [GRCh38] Chr5:138266538 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.229del (p.Asp77fs)	deletion	not provided [RCV001325616]	Chr5:138783296 [GRCh38] Chr5:138118985 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1143+4del	deletion	not provided [RCV001370386]	Chr5:138886295 [GRCh38] Chr5:138221984 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+224C>G	single nucleotide variant	not provided [RCV001354384]	Chr5:138932936 [GRCh38] Chr5:138268625 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.663C>G (p.Leu221=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368324]\|not provided [RCV001422390]	Chr5:138824604 [GRCh38] Chr5:138160293 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.679G>A (p.Ala227Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169891]\|not provided [RCV001368889]	Chr5:138824620 [GRCh38] Chr5:138160309 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2337C>T (p.Tyr779=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002456668]\|not provided [RCV001415268]	Chr5:138932616 [GRCh38] Chr5:138268305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.439G>A (p.Val147Ile)	single nucleotide variant	not provided [RCV001294699]	Chr5:138810175 [GRCh38] Chr5:138145864 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.770A>C (p.Asn257Thr)	single nucleotide variant	not provided [RCV001370983]	Chr5:138824711 [GRCh38] Chr5:138160400 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1466A>C (p.Glu489Ala)	single nucleotide variant	not provided [RCV001349343]	Chr5:138917818 [GRCh38] Chr5:138253507 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2032C>G (p.Gln678Glu)	single nucleotide variant	not provided [RCV001294331]	Chr5:138930494 [GRCh38] Chr5:138266183 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.896A>G (p.Glu299Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447449]\|not provided [RCV001359098]	Chr5:138827552 [GRCh38] Chr5:138163241 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.875A>T (p.Asp292Val)	single nucleotide variant	not provided [RCV001303121]	Chr5:138827531 [GRCh38] Chr5:138163220 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.287A>G (p.Asp96Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438702]\|not provided [RCV001313590]	Chr5:138783358 [GRCh38] Chr5:138119047 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2613G>A (p.Lys871=)	single nucleotide variant	CTNNA1-related condition [RCV003965792]\|not provided [RCV001421992]	Chr5:138933981 [GRCh38] Chr5:138269670 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1753C>T (p.Pro585Ser)	single nucleotide variant	not provided [RCV001294489]	Chr5:138925261 [GRCh38] Chr5:138260950 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1107T>A (p.Asp369Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432015]\|not provided [RCV001360828]	Chr5:138886256 [GRCh38] Chr5:138221945 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.4A>G (p.Thr2Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002341766]\|not provided [RCV001362815]	Chr5:138781928 [GRCh38] Chr5:138117617 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+19T>G	single nucleotide variant	not provided [RCV001433532]	Chr5:138924729 [GRCh38] Chr5:138260418 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.546T>C (p.Pro182=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160740]\|not provided [RCV001434040]	Chr5:138812260 [GRCh38] Chr5:138147949 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.184G>T (p.Ala62Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294356]\|not provided [RCV001344631]	Chr5:138783255 [GRCh38] Chr5:138118944 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138088085)_(138271723_?)del	deletion	not provided [RCV001322784]	Chr5:138088085..138271723 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138118846)_(138269778_?)del	deletion	not provided [RCV001322785]	Chr5:138118846..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138264925)_(138269778_?)dup	duplication	not provided [RCV001322786]	Chr5:138264925..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2192+4A>C	single nucleotide variant	not provided [RCV001323827]	Chr5:138930658 [GRCh38] Chr5:138266347 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1354A>G (p.Met452Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169649]\|not provided [RCV001343501]	Chr5:138904406 [GRCh38] Chr5:138240095 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1781C>T (p.Ala594Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169650]\|not provided [RCV001343502]	Chr5:138925289 [GRCh38] Chr5:138260978 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1652G>A (p.Arg551Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382521]\|not provided [RCV001321585]	Chr5:138924615 [GRCh38] Chr5:138260304 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2591C>T (p.Pro864Leu)	single nucleotide variant	not provided [RCV001369229]	Chr5:138933959 [GRCh38] Chr5:138269648 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1263A>T (p.Gln421His)	single nucleotide variant	not provided [RCV001364170]	Chr5:138887609 [GRCh38] Chr5:138223298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1279G>A (p.Ala427Thr)	single nucleotide variant	not provided [RCV001342024]	Chr5:138887625 [GRCh38] Chr5:138223314 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1479del (p.Lys493fs)	deletion	Polyposis syndrome, hereditary mixed, 1 [RCV002275358]\|not provided [RCV001346666]	Chr5:138917827 [GRCh38] Chr5:138253516 [GRCh37] Chr5:5q31.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1390-3C>T	single nucleotide variant	not provided [RCV001373854]	Chr5:138917739 [GRCh38] Chr5:138253428 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.100dup (p.Thr34fs)	duplication	not provided [RCV001297036]	Chr5:138782023..138782024 [GRCh38] Chr5:138117712..138117713 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.568A>G (p.Met190Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350596]\|not provided [RCV001322948]	Chr5:138812282 [GRCh38] Chr5:138147971 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1798T>A (p.Ser600Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002412082]\|not provided [RCV001344869]	Chr5:138925306 [GRCh38] Chr5:138260995 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1143G>A (p.Gln381=)	single nucleotide variant	not provided [RCV001360580]	Chr5:138886292 [GRCh38] Chr5:138221981 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002419008]\|Hereditary diffuse gastric adenocarcinoma [RCV003449963]\|not provided [RCV001342202]	Chr5:138929315 [GRCh38] Chr5:138265004 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2285_2287del (p.Thr762del)	deletion	not provided [RCV001324061]	Chr5:138930920..138930922 [GRCh38] Chr5:138266609..138266611 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2552C>T (p.Ser851Phe)	single nucleotide variant	not provided [RCV001370169]	Chr5:138933920 [GRCh38] Chr5:138269609 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1	copy number loss	not provided [RCV001270645]	Chr5:137754277..138994590 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.736A>G (p.Lys246Glu)	single nucleotide variant	not provided [RCV001303773]	Chr5:138824677 [GRCh38] Chr5:138160366 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2619G>T (p.Glu873Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002456504]\|not provided [RCV001346932]	Chr5:138933987 [GRCh38] Chr5:138269676 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.190T>G (p.Ser64Ala)	single nucleotide variant	not provided [RCV001371897]	Chr5:138783261 [GRCh38] Chr5:138118950 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.68T>A (p.Leu23Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377518]\|not provided [RCV001362998]	Chr5:138781992 [GRCh38] Chr5:138117681 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1712A>G (p.Lys571Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402881]\|not provided [RCV001315877]	Chr5:138924675 [GRCh38] Chr5:138260364 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2503G>A (p.Ala835Thr)	single nucleotide variant	not provided [RCV001320395]	Chr5:138933871 [GRCh38] Chr5:138269560 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1401T>A (p.Ala467=)	single nucleotide variant	not provided [RCV001342441]	Chr5:138917753 [GRCh38] Chr5:138253442 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1033C>T (p.Gln345Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002395706]\|not provided [RCV001322013]	Chr5:138827689 [GRCh38] Chr5:138163378 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.974C>G (p.Thr325Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377411]\|not provided [RCV001324182]	Chr5:138827630 [GRCh38] Chr5:138163319 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.445A>C (p.Lys149Gln)	single nucleotide variant	not provided [RCV001367692]	Chr5:138810181 [GRCh38] Chr5:138145870 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138253421)_(138253597_?)del	deletion	not provided [RCV001374025]	Chr5:138253421..138253597 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138221891)_(138269788_?)dup	duplication	not provided [RCV001374026]	Chr5:138221891..138269788 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.65C>G (p.Thr22Ser)	single nucleotide variant	not provided [RCV001320550]	Chr5:138781989 [GRCh38] Chr5:138117678 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.763A>C (p.Ile255Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294244]\|not provided [RCV001307768]	Chr5:138824704 [GRCh38] Chr5:138160393 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2192+4A>G	single nucleotide variant	not provided [RCV001310041]	Chr5:138930658 [GRCh38] Chr5:138266347 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2192+3G>A	single nucleotide variant	not provided [RCV001374144]	Chr5:138930657 [GRCh38] Chr5:138266346 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.512A>G (p.Gln171Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002341768]\|not provided [RCV001363288]	Chr5:138812226 [GRCh38] Chr5:138147915 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-1G>A	single nucleotide variant	not provided [RCV001314082]	Chr5:138930472 [GRCh38] Chr5:138266161 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1008G>C (p.Glu336Asp)	single nucleotide variant	not provided [RCV001320773]	Chr5:138827664 [GRCh38] Chr5:138163353 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138145893_?)dup	duplication	not provided [RCV001351318]	Chr5:138117614..138145893 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1057G>T (p.Gly353Cys)	single nucleotide variant	not provided [RCV001315029]	Chr5:138827713 [GRCh38] Chr5:138163402 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.529T>C (p.Tyr177His)	single nucleotide variant	not provided [RCV001352454]	Chr5:138812243 [GRCh38] Chr5:138147932 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1004C>T (p.Ala335Val)	single nucleotide variant	not provided [RCV001317004]	Chr5:138827660 [GRCh38] Chr5:138163349 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1361C>A (p.Ala454Glu)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003473857]\|not provided [RCV001317930]	Chr5:138904413 [GRCh38] Chr5:138240102 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-2A>C	single nucleotide variant	not provided [RCV001347616]	Chr5:138783175 [GRCh38] Chr5:138118864 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2642A>G (p.Lys881Arg)	single nucleotide variant	not provided [RCV001347659]	Chr5:138934010 [GRCh38] Chr5:138269699 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2219C>T (p.Ser740Leu)	single nucleotide variant	not provided [RCV001372771]	Chr5:138930856 [GRCh38] Chr5:138266545 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1235A>G (p.Asn412Ser)	single nucleotide variant	not provided [RCV001372793]	Chr5:138887581 [GRCh38] Chr5:138223270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.655C>G (p.Pro219Ala)	single nucleotide variant	not provided [RCV001363408]	Chr5:138824596 [GRCh38] Chr5:138160285 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.761G>T (p.Gly254Val)	single nucleotide variant	not provided [RCV001339211]	Chr5:138824702 [GRCh38] Chr5:138160391 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.377G>C (p.Arg126Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166855]\|not provided [RCV001320891]	Chr5:138810113 [GRCh38] Chr5:138145802 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1657A>G (p.Ile553Val)	single nucleotide variant	not provided [RCV001342938]	Chr5:138924620 [GRCh38] Chr5:138260309 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.538C>G (p.Leu180Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350643]\|not provided [RCV001347744]	Chr5:138812252 [GRCh38] Chr5:138147941 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.446A>G (p.Lys149Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002329397]\|not provided [RCV001372819]	Chr5:138810182 [GRCh38] Chr5:138145871 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1882G>T (p.Ala628Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169753]\|not provided [RCV001352522]	Chr5:138925390 [GRCh38] Chr5:138261079 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858+1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166749]\|not provided [RCV001307148]	Chr5:138824800 [GRCh38] Chr5:138160489 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1520C>G (p.Ser507Cys)	single nucleotide variant	not provided [RCV001319419]	Chr5:138917872 [GRCh38] Chr5:138253561 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2413G>C (p.Gly805Arg)	single nucleotide variant	not provided [RCV001323547]	Chr5:138932692 [GRCh38] Chr5:138268381 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.170A>G (p.Lys57Arg)	single nucleotide variant	not provided [RCV001372991]	Chr5:138783241 [GRCh38] Chr5:138118930 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1328A>T (p.Asn443Ile)	single nucleotide variant	not provided [RCV001363604]	Chr5:138904380 [GRCh38] Chr5:138240069 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1296+4A>G	single nucleotide variant	not provided [RCV001352595]	Chr5:138887646 [GRCh38] Chr5:138223335 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1211T>C (p.Leu404Ser)	single nucleotide variant	not provided [RCV001299569]	Chr5:138887557 [GRCh38] Chr5:138223246 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1662C>A (p.His554Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166692]\|not provided [RCV001300933]	Chr5:138924625 [GRCh38] Chr5:138260314 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1574A>G (p.Lys525Arg)	single nucleotide variant	not provided [RCV001344426]	Chr5:138924537 [GRCh38] Chr5:138260226 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1000G>A (p.Val334Met)	single nucleotide variant	not provided [RCV001344470]	Chr5:138827656 [GRCh38] Chr5:138163345 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+5A>G	single nucleotide variant	not provided [RCV001373149]	Chr5:138812307 [GRCh38] Chr5:138147996 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2192+2_2192+16del	deletion	not provided [RCV001368057]	Chr5:138930651..138930665 [GRCh38] Chr5:138266340..138266354 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1846C>T (p.Arg616Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413864]\|not provided [RCV001364301]	Chr5:138925354 [GRCh38] Chr5:138261043 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.71C>T (p.Ala24Val)	single nucleotide variant	not provided [RCV001370783]	Chr5:138781995 [GRCh38] Chr5:138117684 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1538C>T (p.Ala513Val)	single nucleotide variant	not provided [RCV001370787]	Chr5:138917890 [GRCh38] Chr5:138253579 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1427A>C (p.Gln476Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294217]\|not provided [RCV001298780]	Chr5:138917779 [GRCh38] Chr5:138253468 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.919del (p.Glu307fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003135953]\|not provided [RCV001309183]	Chr5:138827574 [GRCh38] Chr5:138163263 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1899+1G>A	single nucleotide variant	not provided [RCV001299709]	Chr5:138925408 [GRCh38] Chr5:138261097 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.511C>T (p.Gln171Ter)	single nucleotide variant	not provided [RCV001321255]	Chr5:138812225 [GRCh38] Chr5:138147914 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2560C>G (p.Leu854Val)	single nucleotide variant	not provided [RCV001364446]	Chr5:138933928 [GRCh38] Chr5:138269617 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2695G>C (p.Glu899Gln)	single nucleotide variant	not provided [RCV001318318]	Chr5:138934063 [GRCh38] Chr5:138269752 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1544C>G (p.Ser515Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294379]\|not provided [RCV001350754]	Chr5:138917896 [GRCh38] Chr5:138253585 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.155G>C (p.Arg52Thr)	single nucleotide variant	not provided [RCV001351706]	Chr5:138783226 [GRCh38] Chr5:138118915 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138262838)_138266627del	deletion	not provided [RCV001308448]		uncertain significance
NM_001903.5(CTNNA1):c.152A>G (p.Lys51Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402908]\|not provided [RCV001324820]	Chr5:138783223 [GRCh38] Chr5:138118912 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.788C>T (p.Ala263Val)	single nucleotide variant	not provided [RCV001324905]	Chr5:138824729 [GRCh38] Chr5:138160418 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.879del (p.Pro293_Leu294insTer)	deletion	not provided [RCV001296033]	Chr5:138827532 [GRCh38] Chr5:138163221 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.117T>A (p.Leu39=)	single nucleotide variant	not provided [RCV001296106]	Chr5:138783188 [GRCh38] Chr5:138118877 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.149A>G (p.Lys50Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294263]\|not provided [RCV001314752]	Chr5:138783220 [GRCh38] Chr5:138118909 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2630A>G (p.Glu877Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430098]\|not provided [RCV001299800]	Chr5:138933998 [GRCh38] Chr5:138269687 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1204T>C (p.Leu402=)	single nucleotide variant	not provided [RCV001412460]	Chr5:138887550 [GRCh38] Chr5:138223239 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1523T>C (p.Ile508Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002395686]\|not provided [RCV001318622]	Chr5:138917875 [GRCh38] Chr5:138253564 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.848A>G (p.Asn283Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298592]\|not provided [RCV001367012]	Chr5:138824789 [GRCh38] Chr5:138160478 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2654C>T (p.Ala885Val)	single nucleotide variant	not provided [RCV001367107]	Chr5:138934022 [GRCh38] Chr5:138269711 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.939T>C (p.Ile313=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377589]\|not provided [RCV001394859]	Chr5:138827595 [GRCh38] Chr5:138163284 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2404A>T (p.Asn802Tyr)	single nucleotide variant	not provided [RCV001298035]	Chr5:138932683 [GRCh38] Chr5:138268372 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2664G>C (p.Lys888Asn)	single nucleotide variant	not provided [RCV001367249]	Chr5:138934032 [GRCh38] Chr5:138269721 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.298C>A (p.Gln100Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169866]\|not provided [RCV001367335]	Chr5:138783369 [GRCh38] Chr5:138119058 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2193-4T>C	single nucleotide variant	not provided [RCV001412917]	Chr5:138930826 [GRCh38] Chr5:138266515 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1425A>T (p.Pro475=)	single nucleotide variant	not provided [RCV001413207]	Chr5:138917777 [GRCh38] Chr5:138253466 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1548del (p.Asn517fs)	deletion	not provided [RCV001312481]	Chr5:138924511 [GRCh38] Chr5:138260200 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1206G>A (p.Leu402=)	single nucleotide variant	not provided [RCV001312492]	Chr5:138887552 [GRCh38] Chr5:138223241 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1248T>G (p.Val416=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002404987]\|not provided [RCV001421463]	Chr5:138887594 [GRCh38] Chr5:138223283 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1557T>C (p.Ile519=)	single nucleotide variant	not provided [RCV001395610]	Chr5:138924520 [GRCh38] Chr5:138260209 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.147T>G (p.Asn49Lys)	single nucleotide variant	not provided [RCV001365499]	Chr5:138783218 [GRCh38] Chr5:138118907 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.423G>T (p.Leu141Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298608]\|not provided [RCV001370502]	Chr5:138810159 [GRCh38] Chr5:138145848 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1100C>A (p.Ala367Glu)	single nucleotide variant	not provided [RCV001359604]	Chr5:138886249 [GRCh38] Chr5:138221938 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1526_1527insC (p.Asp509_Asp510insTer)	insertion	Colorectal cancer [RCV001293821]	Chr5:138917878..138917879 [GRCh38] Chr5:138253567..138253568 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV001354838]	Chr5:138781926 [GRCh38] Chr5:138117615 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.173C>G (p.Ala58Gly)	single nucleotide variant	not provided [RCV001317125]	Chr5:138783244 [GRCh38] Chr5:138118933 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.937A>G (p.Ile313Val)	single nucleotide variant	not provided [RCV001317214]	Chr5:138827593 [GRCh38] Chr5:138163282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.514G>A (p.Asp172Asn)	single nucleotide variant	not provided [RCV001298636]	Chr5:138812228 [GRCh38] Chr5:138147917 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1661A>G (p.His554Arg)	single nucleotide variant	not provided [RCV001294952]	Chr5:138924624 [GRCh38] Chr5:138260313 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138240028)_(138269778_?)dup	duplication	not provided [RCV001308449]	Chr5:138240028..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.565A>G (p.Ile189Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382563]\|not provided [RCV001370228]	Chr5:138812279 [GRCh38] Chr5:138147968 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-10A>G	single nucleotide variant	not provided [RCV001395476]	Chr5:138783167 [GRCh38] Chr5:138118856 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1233A>C (p.Gly411=)	single nucleotide variant	not provided [RCV001421146]	Chr5:138887579 [GRCh38] Chr5:138223268 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2175G>C (p.Glu725Asp)	single nucleotide variant	not provided [RCV001304681]	Chr5:138930637 [GRCh38] Chr5:138266326 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.492G>C (p.Leu164Phe)	single nucleotide variant	not provided [RCV001349472]	Chr5:138812206 [GRCh38] Chr5:138147895 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1390-9C>T	single nucleotide variant	not provided [RCV001413050]	Chr5:138917733 [GRCh38] Chr5:138253422 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2630del (p.Glu877fs)	deletion	not provided [RCV001326710]	Chr5:138933998 [GRCh38] Chr5:138269687 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.308T>G (p.Leu103Trp)	single nucleotide variant	not provided [RCV001359673]	Chr5:138810044 [GRCh38] Chr5:138145733 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.182T>C (p.Leu61Ser)	single nucleotide variant	not provided [RCV001366075]	Chr5:138783253 [GRCh38] Chr5:138118942 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2601G>A (p.Lys867=)	single nucleotide variant	not provided [RCV001506930]	Chr5:138933969 [GRCh38] Chr5:138269658 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2650C>A (p.Arg884=)	single nucleotide variant	not provided [RCV001474924]	Chr5:138934018 [GRCh38] Chr5:138269707 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1689T>C (p.Tyr563=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405121]\|not provided [RCV001474965]	Chr5:138924652 [GRCh38] Chr5:138260341 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1947T>C (p.Asp649=)	single nucleotide variant	not provided [RCV001464752]	Chr5:138929293 [GRCh38] Chr5:138264982 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.726C>T (p.Asp242=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384718]\|not provided [RCV001457616]	Chr5:138824667 [GRCh38] Chr5:138160356 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-7C>T	single nucleotide variant	not provided [RCV001453720]	Chr5:138933795 [GRCh38] Chr5:138269484 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1183C>T (p.Leu395=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002342050]\|not provided [RCV001466842]	Chr5:138887529 [GRCh38] Chr5:138223218 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1347T>C (p.Leu449=)	single nucleotide variant	not provided [RCV001473150]	Chr5:138904399 [GRCh38] Chr5:138240088 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.567T>A (p.Ile189=)	single nucleotide variant	not provided [RCV001492366]	Chr5:138812281 [GRCh38] Chr5:138147970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2136C>T (p.Ile712=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421128]\|not provided [RCV001492371]	Chr5:138930598 [GRCh38] Chr5:138266287 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.57G>A (p.Glu19=)	single nucleotide variant	not provided [RCV001499458]	Chr5:138781981 [GRCh38] Chr5:138117670 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.67C>T (p.Leu23=)	single nucleotide variant	not provided [RCV001465146]	Chr5:138781991 [GRCh38] Chr5:138117680 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2712C>T (p.Asp904=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002439020]\|not provided [RCV001435569]	Chr5:138934080 [GRCh38] Chr5:138269769 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1191C>T (p.Thr397=)	single nucleotide variant	not provided [RCV001457279]	Chr5:138887537 [GRCh38] Chr5:138223226 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.582A>G (p.Arg194=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002359021]\|not provided [RCV001457299]	Chr5:138812296 [GRCh38] Chr5:138147985 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1857T>C (p.Tyr619=)	single nucleotide variant	not provided [RCV001451294]	Chr5:138925365 [GRCh38] Chr5:138261054 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+18T>A	single nucleotide variant	not provided [RCV001441273]	Chr5:138827736 [GRCh38] Chr5:138163425 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2073C>T (p.Phe691=)	single nucleotide variant	not provided [RCV001467172]	Chr5:138930535 [GRCh38] Chr5:138266224 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.414G>A (p.Leu138=)	single nucleotide variant	not provided [RCV001487801]	Chr5:138810150 [GRCh38] Chr5:138145839 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1875C>T (p.Ile625=)	single nucleotide variant	not provided [RCV001468618]	Chr5:138925383 [GRCh38] Chr5:138261072 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1836C>A (p.Ile612=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375295]\|not provided [RCV001430759]	Chr5:138925344 [GRCh38] Chr5:138261033 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1701C>T (p.Val567=)	single nucleotide variant	not provided [RCV001491084]	Chr5:138924664 [GRCh38] Chr5:138260353 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.882G>A (p.Leu294=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161017]\|not provided [RCV001503239]	Chr5:138827538 [GRCh38] Chr5:138163227 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+20T>G	single nucleotide variant	Patterned macular dystrophy 2 [RCV003754908]\|not provided [RCV001520945]	Chr5:138783392 [GRCh38] Chr5:138119081 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.589-4G>T	single nucleotide variant	not provided [RCV001436478]	Chr5:138824526 [GRCh38] Chr5:138160215 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.141C>G (p.Pro47=)	single nucleotide variant	not provided [RCV001459247]	Chr5:138783212 [GRCh38] Chr5:138118901 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1551T>C (p.Asn517=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405079]\|not provided [RCV001459089]	Chr5:138924514 [GRCh38] Chr5:138260203 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.951C>T (p.Ala317=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377883]\|not provided [RCV001505324]	Chr5:138827607 [GRCh38] Chr5:138163296 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2505A>C (p.Ala835=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432380]\|not provided [RCV001491328]	Chr5:138933873 [GRCh38] Chr5:138269562 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2439C>T (p.Asp813=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160928]\|not provided [RCV001475532]	Chr5:138933807 [GRCh38] Chr5:138269496 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.846C>T (p.Leu282=)	single nucleotide variant	not provided [RCV001503125]	Chr5:138824787 [GRCh38] Chr5:138160476 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.159T>A (p.Gly53=)	single nucleotide variant	not provided [RCV001468243]	Chr5:138783230 [GRCh38] Chr5:138118919 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.180T>A (p.Val60=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414182]\|not provided [RCV001489210]	Chr5:138783251 [GRCh38] Chr5:138118940 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.292C>A (p.Arg98=)	single nucleotide variant	not provided [RCV001474466]	Chr5:138783363 [GRCh38] Chr5:138119052 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.82C>T (p.Leu28=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432083]\|not provided [RCV001393154]	Chr5:138782006 [GRCh38] Chr5:138117695 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2011-8G>C	single nucleotide variant	not provided [RCV001489425]	Chr5:138930465 [GRCh38] Chr5:138266154 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-10T>G	single nucleotide variant	not provided [RCV001484617]	Chr5:138886202 [GRCh38] Chr5:138221891 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1311C>T (p.Ala437=)	single nucleotide variant	not provided [RCV001470401]	Chr5:138904363 [GRCh38] Chr5:138240052 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.96T>C (p.Leu32=)	single nucleotide variant	not provided [RCV001470479]	Chr5:138782020 [GRCh38] Chr5:138117709 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1095T>C (p.Asn365=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160914]\|not provided [RCV001472390]	Chr5:138886244 [GRCh38] Chr5:138221933 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2625G>A (p.Gln875=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160979]\|not provided [RCV001489785]	Chr5:138933993 [GRCh38] Chr5:138269682 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+7G>A	single nucleotide variant	not provided [RCV001484718]	Chr5:138887649 [GRCh38] Chr5:138223338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.996A>G (p.Arg332=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384612]\|not provided [RCV001416217]	Chr5:138827652 [GRCh38] Chr5:138163341 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2496A>G (p.Thr832=)	single nucleotide variant	not provided [RCV001472580]	Chr5:138933864 [GRCh38] Chr5:138269553 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1845C>G (p.Ser615=)	single nucleotide variant	not provided [RCV001489908]	Chr5:138925353 [GRCh38] Chr5:138261042 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-4C>G	single nucleotide variant	not provided [RCV001502122]	Chr5:138924506 [GRCh38] Chr5:138260195 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.198A>G (p.Glu66=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421110]\|not provided [RCV001485138]	Chr5:138783269 [GRCh38] Chr5:138118958 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.600T>C (p.Asp200=)	single nucleotide variant	not provided [RCV001505385]	Chr5:138824541 [GRCh38] Chr5:138160230 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.975G>A (p.Thr325=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384672]\|not provided [RCV001440730]	Chr5:138827631 [GRCh38] Chr5:138163320 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-6C>T	single nucleotide variant	not provided [RCV001440753]	Chr5:138925250 [GRCh38] Chr5:138260939 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2562T>C (p.Leu854=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169987]\|not provided [RCV001399198]	Chr5:138933930 [GRCh38] Chr5:138269619 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.675C>A (p.Ser225=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368279]\|not provided [RCV001409436]	Chr5:138824616 [GRCh38] Chr5:138160305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1287A>G (p.Lys429=)	single nucleotide variant	not provided [RCV001448742]	Chr5:138887633 [GRCh38] Chr5:138223322 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2226C>T (p.Val742=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432218]\|not provided [RCV001438404]	Chr5:138930863 [GRCh38] Chr5:138266552 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2523C>T (p.Thr841=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432188]\|not provided [RCV001428707]	Chr5:138933891 [GRCh38] Chr5:138269580 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1725C>T (p.Ala575=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298699]\|not provided [RCV001417241]	Chr5:138924688 [GRCh38] Chr5:138260377 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.24C>T (p.Asn8=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432193]\|not provided [RCV001430351]	Chr5:138781948 [GRCh38] Chr5:138117637 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.177T>C (p.His59=)	single nucleotide variant	not provided [RCV001448905]	Chr5:138783248 [GRCh38] Chr5:138118937 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.240G>C (p.Ala80=)	single nucleotide variant	not provided [RCV001394251]	Chr5:138783311 [GRCh38] Chr5:138119000 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1587T>C (p.Ala529=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002404938]\|not provided [RCV001402107]	Chr5:138924550 [GRCh38] Chr5:138260239 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-10del	deletion	not provided [RCV001446271]	Chr5:138904339 [GRCh38] Chr5:138240028 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.936C>T (p.Ile312=)	single nucleotide variant	not provided [RCV001412005]	Chr5:138827592 [GRCh38] Chr5:138163281 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1362A>G (p.Ala454=)	single nucleotide variant	not provided [RCV001443852]	Chr5:138904414 [GRCh38] Chr5:138240103 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2143C>T (p.Leu715=)	single nucleotide variant	not provided [RCV001400881]	Chr5:138930605 [GRCh38] Chr5:138266294 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2016C>T (p.Ile672=)	single nucleotide variant	not provided [RCV001409685]	Chr5:138930478 [GRCh38] Chr5:138266167 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-9C>A	single nucleotide variant	not provided [RCV001438954]	Chr5:138917733 [GRCh38] Chr5:138253422 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.63G>A (p.Arg21=)	single nucleotide variant	not provided [RCV001402700]	Chr5:138781987 [GRCh38] Chr5:138117676 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1302C>T (p.Ala434=)	single nucleotide variant	not provided [RCV001410241]	Chr5:138904354 [GRCh38] Chr5:138240043 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-207_1390-204del	deletion	not provided [RCV001541762]	Chr5:138917532..138917535 [GRCh38] Chr5:138253221..138253224 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.489G>A (p.Lys163=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002341931]\|not provided [RCV001429085]	Chr5:138812203 [GRCh38] Chr5:138147892 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1884A>G (p.Ala628=)	single nucleotide variant	not provided [RCV001418210]	Chr5:138925392 [GRCh38] Chr5:138261081 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.567T>C (p.Ile189=)	single nucleotide variant	not provided [RCV001398147]	Chr5:138812281 [GRCh38] Chr5:138147970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2473T>C (p.Leu825=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170033]\|not provided [RCV001407796]	Chr5:138933841 [GRCh38] Chr5:138269530 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1534T>C (p.Leu512=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405001]\|not provided [RCV001428680]	Chr5:138917886 [GRCh38] Chr5:138253575 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2466C>T (p.Ala822=)	single nucleotide variant	not provided [RCV001408038]	Chr5:138933834 [GRCh38] Chr5:138269523 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-8C>T	single nucleotide variant	not provided [RCV001442010]	Chr5:138932570 [GRCh38] Chr5:138268259 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.408C>G (p.Thr136=)	single nucleotide variant	not provided [RCV001408127]	Chr5:138810144 [GRCh38] Chr5:138145833 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.240G>T (p.Ala80=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449109]\|not provided [RCV001408240]	Chr5:138783311 [GRCh38] Chr5:138119000 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.672A>G (p.Ala224=)	single nucleotide variant	not provided [RCV001393252]	Chr5:138824613 [GRCh38] Chr5:138160302 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.159T>G (p.Gly53=)	single nucleotide variant	not provided [RCV001418844]	Chr5:138783230 [GRCh38] Chr5:138118919 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-10A>G	single nucleotide variant	not provided [RCV001447627]	Chr5:138904339 [GRCh38] Chr5:138240028 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1653G>A (p.Arg551=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002404991]\|not provided [RCV001423961]	Chr5:138924616 [GRCh38] Chr5:138260305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+10C>T	single nucleotide variant	not provided [RCV001402545]	Chr5:138810214 [GRCh38] Chr5:138145903 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+9C>T	single nucleotide variant	not provided [RCV001431355]	Chr5:138930944 [GRCh38] Chr5:138266633 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.642G>T (p.Leu214=)	single nucleotide variant	not provided [RCV001444898]	Chr5:138824583 [GRCh38] Chr5:138160272 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1737C>G (p.Leu579=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414071]\|not provided [RCV001447578]	Chr5:138924700 [GRCh38] Chr5:138260389 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.123C>T (p.Asn41=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377686]\|not provided [RCV001428251]	Chr5:138783194 [GRCh38] Chr5:138118883 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.189A>G (p.Ala63=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413969]\|not provided [RCV001408452]	Chr5:138783260 [GRCh38] Chr5:138118949 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1470A>G (p.Gln490=)	single nucleotide variant	not provided [RCV001410991]	Chr5:138917822 [GRCh38] Chr5:138253511 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.54A>G (p.Leu18=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350767]\|not provided [RCV001401410]	Chr5:138781978 [GRCh38] Chr5:138117667 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.579A>G (p.Lys193=)	single nucleotide variant	not provided [RCV001447879]	Chr5:138812293 [GRCh38] Chr5:138147982 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2052T>C (p.Ile684=)	single nucleotide variant	not provided [RCV001400283]	Chr5:138930514 [GRCh38] Chr5:138266203 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.318T>C (p.Ala106=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160680]\|not provided [RCV001419504]	Chr5:138810054 [GRCh38] Chr5:138145743 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2517C>A (p.Ala839=)	single nucleotide variant	not provided [RCV001411061]	Chr5:138933885 [GRCh38] Chr5:138269574 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2622A>G (p.Lys874=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432233]\|not provided [RCV001443092]	Chr5:138933990 [GRCh38] Chr5:138269679 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.753G>C (p.Ala251=)	single nucleotide variant	not provided [RCV001428479]	Chr5:138824694 [GRCh38] Chr5:138160383 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1968C>A (p.Val656=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421013]\|not provided [RCV001448453]	Chr5:138929314 [GRCh38] Chr5:138265003 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.816T>A (p.Gly272=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160713]\|not provided [RCV001427526]	Chr5:138824757 [GRCh38] Chr5:138160446 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2502G>A (p.Lys834=)	single nucleotide variant	not provided [RCV001416808]	Chr5:138933870 [GRCh38] Chr5:138269559 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.66T>C (p.Thr22=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368479]\|not provided [RCV001481822]	Chr5:138781990 [GRCh38] Chr5:138117679 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1587T>A (p.Ala529=)	single nucleotide variant	not provided [RCV001502102]	Chr5:138924550 [GRCh38] Chr5:138260239 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-295dup	duplication	not provided [RCV001539791]	Chr5:138928940..138928941 [GRCh38] Chr5:138264629..138264630 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1041G>A (p.Leu347=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396086]\|not provided [RCV001461252]	Chr5:138827697 [GRCh38] Chr5:138163386 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1710G>A (p.Glu570=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405192]\|not provided [RCV001502247]	Chr5:138924673 [GRCh38] Chr5:138260362 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.207T>G (p.Thr69=)	single nucleotide variant	not provided [RCV001495130]	Chr5:138783278 [GRCh38] Chr5:138118967 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.759A>G (p.Thr253=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160857]\|not provided [RCV001457635]	Chr5:138824700 [GRCh38] Chr5:138160389 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1747+7G>A	single nucleotide variant	not provided [RCV001473236]	Chr5:138924717 [GRCh38] Chr5:138260406 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2295C>T (p.Asp765=)	single nucleotide variant	not provided [RCV001454395]	Chr5:138930932 [GRCh38] Chr5:138266621 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.984C>T (p.Asp328=)	single nucleotide variant	not provided [RCV001464724]	Chr5:138827640 [GRCh38] Chr5:138163329 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1428G>A (p.Gln476=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396159]\|not provided [RCV001486145]	Chr5:138917780 [GRCh38] Chr5:138253469 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+7G>T	single nucleotide variant	not provided [RCV001490693]	Chr5:138887649 [GRCh38] Chr5:138223338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2193-10C>T	single nucleotide variant	not provided [RCV001473444]	Chr5:138930820 [GRCh38] Chr5:138266509 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.777C>T (p.Ala259=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414137]\|not provided [RCV001473485]	Chr5:138824718 [GRCh38] Chr5:138160407 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1293T>C (p.Ile431=)	single nucleotide variant	not provided [RCV001482197]	Chr5:138887639 [GRCh38] Chr5:138223328 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-16G>C	single nucleotide variant	not provided [RCV001509749]\|not specified [RCV001699793]	Chr5:138925240 [GRCh38] Chr5:138260929 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2118C>T (p.Asp706=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375309]\|not provided [RCV001458589]	Chr5:138930580 [GRCh38] Chr5:138266269 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1983T>C (p.Asp661=)	single nucleotide variant	not provided [RCV001473566]	Chr5:138929329 [GRCh38] Chr5:138265018 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.693C>T (p.His231=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160952]\|not provided [RCV001482614]	Chr5:138824634 [GRCh38] Chr5:138160323 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-185C>G	single nucleotide variant	not provided [RCV001695478]	Chr5:138887305 [GRCh38] Chr5:138222994 [GRCh37] Chr5:5q31.2	benign
NC_000005.10:g.138753397G>A	single nucleotide variant	not provided [RCV001717057]	Chr5:138753397 [GRCh38] Chr5:138089086 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1547-228G>T	single nucleotide variant	not provided [RCV001584769]	Chr5:138924282 [GRCh38] Chr5:138259971 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-210del	deletion	not provided [RCV001671928]	Chr5:138924296 [GRCh38] Chr5:138259985 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1389+10A>C	single nucleotide variant	not provided [RCV001487086]	Chr5:138904451 [GRCh38] Chr5:138240140 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-209C>A	single nucleotide variant	not provided [RCV001611530]	Chr5:138924301 [GRCh38] Chr5:138259990 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1092C>G (p.Leu364=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449316]\|not provided [RCV001497252]	Chr5:138886241 [GRCh38] Chr5:138221930 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1899+18A>G	single nucleotide variant	Patterned macular dystrophy 2 [RCV002506618]\|not provided [RCV001516832]	Chr5:138925425 [GRCh38] Chr5:138261114 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.2562T>A (p.Leu854=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432258]\|not provided [RCV001453120]	Chr5:138933930 [GRCh38] Chr5:138269619 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1101A>G (p.Ala367=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432297]\|not provided [RCV001463461]	Chr5:138886250 [GRCh38] Chr5:138221939 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-5del	deletion	not provided [RCV001488388]	Chr5:138904342 [GRCh38] Chr5:138240031 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1881A>G (p.Lys627=)	single nucleotide variant	not provided [RCV001460376]	Chr5:138925389 [GRCh38] Chr5:138261078 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-5del	deletion	not provided [RCV001480769]	Chr5:138886207 [GRCh38] Chr5:138221896 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2676C>T (p.Asn892=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432270]\|not provided [RCV001456695]	Chr5:138934044 [GRCh38] Chr5:138269733 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2490G>A (p.Val830=)	single nucleotide variant	not provided [RCV001478021]	Chr5:138933858 [GRCh38] Chr5:138269547 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.477T>C (p.Asp159=)	single nucleotide variant	not provided [RCV001478196]	Chr5:138812191 [GRCh38] Chr5:138147880 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1221T>C (p.Ala407=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368536]\|not provided [RCV001505368]	Chr5:138887567 [GRCh38] Chr5:138223256 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2607G>A (p.Leu869=)	single nucleotide variant	not provided [RCV001501498]	Chr5:138933975 [GRCh38] Chr5:138269664 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1347T>A (p.Leu449=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298785]\|not provided [RCV001456747]	Chr5:138904399 [GRCh38] Chr5:138240088 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-6T>C	single nucleotide variant	not provided [RCV001456581]	Chr5:138917736 [GRCh38] Chr5:138253425 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1674A>G (p.Ser558=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405179]\|not provided [RCV001498589]	Chr5:138924637 [GRCh38] Chr5:138260326 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-7G>A	single nucleotide variant	not provided [RCV001467675]	Chr5:138929239 [GRCh38] Chr5:138264928 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2340G>A (p.Leu780=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160850]\|not provided [RCV001456734]	Chr5:138932619 [GRCh38] Chr5:138268308 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2403G>A (p.Gln801=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449321]\|not provided [RCV001498805]	Chr5:138932682 [GRCh38] Chr5:138268371 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2640C>A (p.Thr880=)	single nucleotide variant	not provided [RCV001437964]	Chr5:138934008 [GRCh38] Chr5:138269697 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1581C>T (p.Val527=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396099]\|not provided [RCV001465392]	Chr5:138924544 [GRCh38] Chr5:138260233 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.813G>A (p.Gln271=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421114]\|not provided [RCV001487005]	Chr5:138824754 [GRCh38] Chr5:138160443 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1686C>T (p.Asn562=)	single nucleotide variant	not provided [RCV001469916]	Chr5:138924649 [GRCh38] Chr5:138260338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1266T>C (p.Val422=)	single nucleotide variant	not provided [RCV001494923]	Chr5:138887612 [GRCh38] Chr5:138223301 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.633A>G (p.Arg211=)	single nucleotide variant	not provided [RCV001485903]	Chr5:138824574 [GRCh38] Chr5:138160263 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-10C>T	single nucleotide variant	not provided [RCV001436160]	Chr5:138932568 [GRCh38] Chr5:138268257 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1902C>T (p.Thr634=)	single nucleotide variant	not provided [RCV001485950]	Chr5:138929248 [GRCh38] Chr5:138264937 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1854A>G (p.Val618=)	single nucleotide variant	not provided [RCV001495927]	Chr5:138925362 [GRCh38] Chr5:138261051 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.462G>T (p.Leu154=)	single nucleotide variant	not provided [RCV001498123]	Chr5:138810198 [GRCh38] Chr5:138145887 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.483C>T (p.Ile161=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002329632]\|not provided [RCV001501949]	Chr5:138812197 [GRCh38] Chr5:138147886 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.1651C>A (p.Arg551=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405204]\|not provided [RCV001506833]	Chr5:138924614 [GRCh38] Chr5:138260303 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.855T>C (p.Phe285=)	single nucleotide variant	not provided [RCV001471068]	Chr5:138824796 [GRCh38] Chr5:138160485 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+7G>T	single nucleotide variant	not provided [RCV001454052]	Chr5:138930942 [GRCh38] Chr5:138266631 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2451C>T (p.Ser817=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432231]\|not provided [RCV001442877]	Chr5:138933819 [GRCh38] Chr5:138269508 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.840T>C (p.Tyr280=)	single nucleotide variant	not provided [RCV001460718]	Chr5:138824781 [GRCh38] Chr5:138160470 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1068A>T (p.Gly356=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414222]\|not provided [RCV001503408]	Chr5:138886217 [GRCh38] Chr5:138221906 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1404A>G (p.Ala468=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396082]\|not provided [RCV001460138]	Chr5:138917756 [GRCh38] Chr5:138253445 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1245A>G (p.Glu415=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396092]\|not provided [RCV001463046]	Chr5:138887591 [GRCh38] Chr5:138223280 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1143+8G>C	single nucleotide variant	not provided [RCV001519745]	Chr5:138886300 [GRCh38] Chr5:138221989 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.324A>G (p.Ala108=)	single nucleotide variant	not provided [RCV001467620]	Chr5:138810060 [GRCh38] Chr5:138145749 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1476A>G (p.Glu492=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396156]\|not provided [RCV001484957]	Chr5:138917828 [GRCh38] Chr5:138253517 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.195T>G (p.Val65=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421157]\|not provided [RCV001505153]	Chr5:138783266 [GRCh38] Chr5:138118955 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2634A>G (p.Thr878=)	single nucleotide variant	not provided [RCV001397749]	Chr5:138934002 [GRCh38] Chr5:138269691 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2445C>A (p.Ala815=)	single nucleotide variant	not provided [RCV001459243]	Chr5:138933813 [GRCh38] Chr5:138269502 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2358C>T (p.Tyr786=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449271]\|not provided [RCV001479020]	Chr5:138932637 [GRCh38] Chr5:138268326 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-9T>C	single nucleotide variant	not provided [RCV001480376]	Chr5:138925247 [GRCh38] Chr5:138260936 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.777C>G (p.Ala259=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414029]\|not provided [RCV001434224]	Chr5:138824718 [GRCh38] Chr5:138160407 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+21dup	duplication	not provided [RCV001521451]	Chr5:138929373..138929374 [GRCh38] Chr5:138265062..138265063 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1035G>A (p.Gln345=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396002]\|not provided [RCV001436539]	Chr5:138827691 [GRCh38] Chr5:138163380 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1602T>C (p.Asp534=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405196]\|not provided [RCV001503650]	Chr5:138924565 [GRCh38] Chr5:138260254 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.189A>C (p.Ala63=)	single nucleotide variant	not provided [RCV001467790]	Chr5:138783260 [GRCh38] Chr5:138118949 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.945G>A (p.Gly315=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377685]\|not provided [RCV001427694]	Chr5:138827601 [GRCh38] Chr5:138163290 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.441C>T (p.Val147=)	single nucleotide variant	not provided [RCV001434145]	Chr5:138810177 [GRCh38] Chr5:138145866 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1743C>T (p.Asn581=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382594]\|not provided [RCV001461902]	Chr5:138924706 [GRCh38] Chr5:138260395 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2472C>T (p.Asn824=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002456720]\|not provided [RCV001434913]	Chr5:138933840 [GRCh38] Chr5:138269529 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.900C>T (p.Arg300=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377827]\|not provided [RCV001480908]	Chr5:138827556 [GRCh38] Chr5:138163245 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.441C>G (p.Val147=)	single nucleotide variant	not provided [RCV001441468]	Chr5:138810177 [GRCh38] Chr5:138145866 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2151G>A (p.Lys717=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432263]\|not provided [RCV001454943]	Chr5:138930613 [GRCh38] Chr5:138266302 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-11A>G	single nucleotide variant	not provided [RCV001515849]	Chr5:138917731 [GRCh38] Chr5:138253420 [GRCh37] Chr5:5q31.2	benign\|likely benign
NM_001903.5(CTNNA1):c.105+8T>G	single nucleotide variant	not provided [RCV001479488]	Chr5:138782037 [GRCh38] Chr5:138117726 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-4C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298821]\|not provided [RCV001471886]	Chr5:138886208 [GRCh38] Chr5:138221897 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2718C>T (p.Ile906=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382600]\|not provided [RCV001471962]	Chr5:138934086 [GRCh38] Chr5:138269775 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2008C>A (p.Arg670=)	single nucleotide variant	not provided [RCV001441890]	Chr5:138929354 [GRCh38] Chr5:138265043 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1620C>T (p.Arg540=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405168]\|not provided [RCV001495452]	Chr5:138924583 [GRCh38] Chr5:138260272 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.828A>G (p.Gly276=)	single nucleotide variant	not provided [RCV001477374]	Chr5:138824769 [GRCh38] Chr5:138160458 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.354T>G (p.Ser118=)	single nucleotide variant	not provided [RCV001481173]	Chr5:138810090 [GRCh38] Chr5:138145779 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.18A>G (p.Ala6=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003294615]\|not provided [RCV003109011]	Chr5:138781942 [GRCh38] Chr5:138117631 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.662T>G (p.Leu221Arg)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003475526]\|not provided [RCV003106989]	Chr5:138824603 [GRCh38] Chr5:138160292 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+429C>T	single nucleotide variant	not provided [RCV001732615]	Chr5:138933141 [GRCh38] Chr5:138268830 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.302-152_302-149del	deletion	not provided [RCV001758001]	Chr5:138809886..138809889 [GRCh38] Chr5:138145575..138145578 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-153dup	duplication	not provided [RCV001799870]	Chr5:138827361..138827362 [GRCh38] Chr5:138163050..138163051 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1227G>C (p.Lys409Asn)	single nucleotide variant	not provided [RCV001971025]	Chr5:138887573 [GRCh38] Chr5:138223262 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.800C>T (p.Ala267Val)	single nucleotide variant	not provided [RCV002025379]	Chr5:138824741 [GRCh38] Chr5:138160430 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1000G>C (p.Val334Leu)	single nucleotide variant	not provided [RCV001874080]	Chr5:138827656 [GRCh38] Chr5:138163345 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2162T>G (p.Met721Arg)	single nucleotide variant	not provided [RCV001971643]	Chr5:138930624 [GRCh38] Chr5:138266313 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-1G>T	single nucleotide variant	not provided [RCV001986972]	Chr5:138783176 [GRCh38] Chr5:138118865 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1649C>A (p.Ala550Asp)	single nucleotide variant	not provided [RCV001896240]	Chr5:138924612 [GRCh38] Chr5:138260301 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.226G>T (p.Gly76Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442972]\|not provided [RCV001971086]	Chr5:138783297 [GRCh38] Chr5:138118986 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2650C>T (p.Arg884Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458941]\|not provided [RCV002009086]	Chr5:138934018 [GRCh38] Chr5:138269707 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.752C>T (p.Ala251Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388800]\|not provided [RCV001896846]	Chr5:138824693 [GRCh38] Chr5:138160382 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138117728_?)del	deletion	not provided [RCV002020584]	Chr5:138117614..138117728 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2157G>T (p.Met719Ile)	single nucleotide variant	not provided [RCV002041420]	Chr5:138930619 [GRCh38] Chr5:138266308 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1297-4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382734]\|not provided [RCV001949874]	Chr5:138904345 [GRCh38] Chr5:138240034 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.-2-5766_-2-5573del	deletion	Schizophrenia [RCV002463482]	Chr5:138776156..138776349 [GRCh38] Chr5:138111845..138112038 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1263A>C (p.Gln421His)	single nucleotide variant	not provided [RCV002025744]	Chr5:138887609 [GRCh38] Chr5:138223298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2236G>A (p.Ala746Thr)	single nucleotide variant	not provided [RCV001950600]	Chr5:138930873 [GRCh38] Chr5:138266562 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.837_838delinsGC (p.Tyr280His)	indel	not provided [RCV001870859]	Chr5:138824778..138824779 [GRCh38] Chr5:138160467..138160468 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.37T>A (p.Trp13Arg)	single nucleotide variant	not provided [RCV001894048]	Chr5:138781961 [GRCh38] Chr5:138117650 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2509T>A (p.Tyr837Asn)	single nucleotide variant	not provided [RCV001874171]	Chr5:138933877 [GRCh38] Chr5:138269566 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.92C>G (p.Pro31Arg)	single nucleotide variant	not provided [RCV001872294]	Chr5:138782016 [GRCh38] Chr5:138117705 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1802A>T (p.Asp601Val)	single nucleotide variant	not provided [RCV001893132]	Chr5:138925310 [GRCh38] Chr5:138260999 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+4A>G	single nucleotide variant	not provided [RCV001873918]	Chr5:138782033 [GRCh38] Chr5:138117722 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-20C>T	single nucleotide variant	not provided [RCV002002538]	Chr5:138930453 [GRCh38] Chr5:138266142 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.312G>T (p.Met104Ile)	single nucleotide variant	not provided [RCV002004403]	Chr5:138810048 [GRCh38] Chr5:138145737 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2691_2701dup (p.Lys901fs)	duplication	not provided [RCV001894275]	Chr5:138934058..138934059 [GRCh38] Chr5:138269747..138269748 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2123G>A (p.Ser708Asn)	single nucleotide variant	not provided [RCV002008362]	Chr5:138930585 [GRCh38] Chr5:138266274 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2668C>T (p.His890Tyr)	single nucleotide variant	not provided [RCV001890024]	Chr5:138934036 [GRCh38] Chr5:138269725 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2305G>A (p.Asp769Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425379]\|not provided [RCV002008393]	Chr5:138932584 [GRCh38] Chr5:138268273 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.844C>T (p.Leu282Phe)	single nucleotide variant	not provided [RCV002024345]	Chr5:138824785 [GRCh38] Chr5:138160474 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1903C>T (p.Pro635Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407146]\|not provided [RCV001987521]	Chr5:138929249 [GRCh38] Chr5:138264938 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2583G>C (p.Met861Ile)	single nucleotide variant	not provided [RCV001950166]	Chr5:138933951 [GRCh38] Chr5:138269640 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.784A>G (p.Thr262Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003303400]\|not provided [RCV001914302]	Chr5:138824725 [GRCh38] Chr5:138160414 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2709_*5dup (p.Met903_Ter907=)	duplication	not provided [RCV001947203]	Chr5:138934076..138934077 [GRCh38] Chr5:138269765..138269766 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.505A>C (p.Asn169His)	single nucleotide variant	not provided [RCV001889740]	Chr5:138812219 [GRCh38] Chr5:138147908 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+2T>C	single nucleotide variant	not provided [RCV001964750]	Chr5:138810206 [GRCh38] Chr5:138145895 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1236T>A (p.Asn412Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166930]\|not provided [RCV001871498]	Chr5:138887582 [GRCh38] Chr5:138223271 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1143+4A>T	single nucleotide variant	not provided [RCV001908710]	Chr5:138886296 [GRCh38] Chr5:138221985 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1030C>G (p.Leu344Val)	single nucleotide variant	not provided [RCV002003906]	Chr5:138827686 [GRCh38] Chr5:138163375 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.92C>T (p.Pro31Leu)	single nucleotide variant	not provided [RCV002020484]	Chr5:138782016 [GRCh38] Chr5:138117705 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.621G>C (p.Met207Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002361273]\|not provided [RCV001965315]	Chr5:138824562 [GRCh38] Chr5:138160251 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.881T>C (p.Leu294Ser)	single nucleotide variant	not provided [RCV002021750]	Chr5:138827537 [GRCh38] Chr5:138163226 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1772T>G (p.Val591Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003303368]\|not provided [RCV001910083]	Chr5:138925280 [GRCh38] Chr5:138260969 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.572C>G (p.Ala191Gly)	single nucleotide variant	not provided [RCV002043167]	Chr5:138812286 [GRCh38] Chr5:138147975 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.335C>G (p.Ala112Gly)	single nucleotide variant	not provided [RCV002043208]	Chr5:138810071 [GRCh38] Chr5:138145760 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.625G>A (p.Ala209Thr)	single nucleotide variant	not provided [RCV001983476]	Chr5:138824566 [GRCh38] Chr5:138160255 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.634G>C (p.Gly212Arg)	single nucleotide variant	not provided [RCV001927310]	Chr5:138824575 [GRCh38] Chr5:138160264 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.824G>A (p.Gly275Glu)	single nucleotide variant	not provided [RCV001984947]	Chr5:138824765 [GRCh38] Chr5:138160454 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.587A>G (p.Gln196Arg)	single nucleotide variant	not provided [RCV001964516]	Chr5:138812301 [GRCh38] Chr5:138147990 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1729A>G (p.Lys577Glu)	single nucleotide variant	not provided [RCV001911805]	Chr5:138924692 [GRCh38] Chr5:138260381 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1683C>G (p.Asp561Glu)	single nucleotide variant	not provided [RCV001910490]	Chr5:138924646 [GRCh38] Chr5:138260335 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.911C>T (p.Ser304Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370631]\|not provided [RCV001966913]	Chr5:138827567 [GRCh38] Chr5:138163256 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2232T>A (p.Ser744Arg)	single nucleotide variant	not provided [RCV001889045]	Chr5:138930869 [GRCh38] Chr5:138266558 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.421T>G (p.Leu141Val)	single nucleotide variant	not provided [RCV002006502]	Chr5:138810157 [GRCh38] Chr5:138145846 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003453908]\|not provided [RCV001969392]	Chr5:138783222..138783223 [GRCh38] Chr5:138118911..138118912 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.751G>A (p.Ala251Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388853]\|not provided [RCV001928766]	Chr5:138824692 [GRCh38] Chr5:138160381 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.284A>C (p.Glu95Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002440913]\|Patterned macular dystrophy 2 [RCV003475113]\|not provided [RCV002042138]	Chr5:138783355 [GRCh38] Chr5:138119044 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.199C>T (p.Gln67Ter)	single nucleotide variant	not provided [RCV002040061]	Chr5:138783270 [GRCh38] Chr5:138118959 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.780G>C (p.Gln260His)	single nucleotide variant	not provided [RCV001909811]	Chr5:138824721 [GRCh38] Chr5:138160410 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1159A>C (p.Met387Leu)	single nucleotide variant	not provided [RCV001985996]	Chr5:138887505 [GRCh38] Chr5:138223194 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.891C>A (p.Ser297Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370377]\|not provided [RCV001894072]	Chr5:138827547 [GRCh38] Chr5:138163236 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1387C>T (p.Gln463Ter)	single nucleotide variant	not provided [RCV001967337]	Chr5:138904439 [GRCh38] Chr5:138240128 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2012C>T (p.Ala671Val)	single nucleotide variant	not provided [RCV002020561]	Chr5:138930474 [GRCh38] Chr5:138266163 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.520G>A (p.Gly174Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002337108]\|not provided [RCV001986655]	Chr5:138812234 [GRCh38] Chr5:138147923 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.852C>G (p.Asn284Lys)	single nucleotide variant	not provided [RCV001945446]	Chr5:138824793 [GRCh38] Chr5:138160482 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+1G>A	single nucleotide variant	not provided [RCV001889343]	Chr5:138812303 [GRCh38] Chr5:138147992 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.700G>T (p.Val234Phe)	single nucleotide variant	not provided [RCV001889250]	Chr5:138824641 [GRCh38] Chr5:138160330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.278C>T (p.Ala93Val)	single nucleotide variant	not provided [RCV002020769]	Chr5:138783349 [GRCh38] Chr5:138119038 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1706C>T (p.Thr569Ile)	single nucleotide variant	not provided [RCV001895099]	Chr5:138924669 [GRCh38] Chr5:138260358 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1711_1713del (p.Lys571del)	deletion	not provided [RCV001964962]	Chr5:138924672..138924674 [GRCh38] Chr5:138260361..138260363 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.80G>A (p.Arg27Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423177]\|not provided [RCV002007985]	Chr5:138782004 [GRCh38] Chr5:138117693 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2624A>G (p.Gln875Arg)	single nucleotide variant	not provided [RCV001965042]	Chr5:138933992 [GRCh38] Chr5:138269681 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.169_170delinsGC (p.Lys57Ala)	indel	not provided [RCV001968438]	Chr5:138783240..138783241 [GRCh38] Chr5:138118929..138118930 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.431T>G (p.Met144Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002331363]\|not provided [RCV001872274]	Chr5:138810167 [GRCh38] Chr5:138145856 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.143C>G (p.Ser48Cys)	single nucleotide variant	not provided [RCV002023409]	Chr5:138783214 [GRCh38] Chr5:138118903 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1746A>G (p.Thr582=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382653]\|not provided [RCV002039355]	Chr5:138924709 [GRCh38] Chr5:138260398 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001903.5(CTNNA1):c.1400C>T (p.Ala467Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388939]\|not provided [RCV001985559]	Chr5:138917752 [GRCh38] Chr5:138253441 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.794A>G (p.Asp265Gly)	single nucleotide variant	not provided [RCV001968518]	Chr5:138824735 [GRCh38] Chr5:138160424 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1754C>T (p.Pro585Leu)	single nucleotide variant	not provided [RCV001985680]	Chr5:138925262 [GRCh38] Chr5:138260951 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1274A>C (p.Glu425Ala)	single nucleotide variant	not provided [RCV001965606]	Chr5:138887620 [GRCh38] Chr5:138223309 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2697G>C (p.Glu899Asp)	single nucleotide variant	not provided [RCV001871493]	Chr5:138934065 [GRCh38] Chr5:138269754 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2215A>G (p.Thr739Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425265]\|not provided [RCV001926975]	Chr5:138930852 [GRCh38] Chr5:138266541 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1058G>A (p.Gly353Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398111]\|not provided [RCV002023552]	Chr5:138827714 [GRCh38] Chr5:138163403 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1834A>G (p.Ile612Val)	single nucleotide variant	not provided [RCV002003465]	Chr5:138925342 [GRCh38] Chr5:138261031 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2623C>G (p.Gln875Glu)	single nucleotide variant	not provided [RCV001965621]	Chr5:138933991 [GRCh38] Chr5:138269680 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.286G>T (p.Asp96Tyr)	single nucleotide variant	not provided [RCV001893781]	Chr5:138783357 [GRCh38] Chr5:138119046 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1085A>T (p.Asp362Val)	single nucleotide variant	not provided [RCV001927709]	Chr5:138886234 [GRCh38] Chr5:138221923 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-16C>T	single nucleotide variant	not provided [RCV001946929]	Chr5:138933786 [GRCh38] Chr5:138269475 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1027G>T (p.Ala343Ser)	single nucleotide variant	not provided [RCV001947222]	Chr5:138827683 [GRCh38] Chr5:138163372 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1808C>T (p.Ala603Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407284]\|not provided [RCV002006644]	Chr5:138925316 [GRCh38] Chr5:138261005 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1365C>G (p.Ser455Arg)	single nucleotide variant	not provided [RCV002006156]	Chr5:138904417 [GRCh38] Chr5:138240106 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.968C>G (p.Ser323Cys)	single nucleotide variant	not provided [RCV002022385]	Chr5:138827624 [GRCh38] Chr5:138163313 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1003G>T (p.Ala335Ser)	single nucleotide variant	not provided [RCV002002007]	Chr5:138827659 [GRCh38] Chr5:138163348 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.937A>T (p.Ile313Phe)	single nucleotide variant	not provided [RCV001907842]	Chr5:138827593 [GRCh38] Chr5:138163282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.235A>G (p.Ile79Val)	single nucleotide variant	not provided [RCV001985872]	Chr5:138783306 [GRCh38] Chr5:138118995 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.525C>G (p.Ile175Met)	single nucleotide variant	not provided [RCV001986198]	Chr5:138812239 [GRCh38] Chr5:138147928 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup)	duplication	Craniosynostosis syndrome [RCV001849682]	Chr5:138933938..138933939 [GRCh38] Chr5:138269627..138269628 [GRCh37] Chr5:5q31.2	likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_001903.5(CTNNA1):c.1063G>T (p.Ala355Ser)	single nucleotide variant	not provided [RCV002002783]	Chr5:138886212 [GRCh38] Chr5:138221901 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1144-13A>G	single nucleotide variant	not provided [RCV002004166]	Chr5:138887477 [GRCh38] Chr5:138223166 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.914T>G (p.Leu305Arg)	single nucleotide variant	not provided [RCV002004601]	Chr5:138827570 [GRCh38] Chr5:138163259 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.310A>T (p.Met104Leu)	single nucleotide variant	not provided [RCV001965681]	Chr5:138810046 [GRCh38] Chr5:138145735 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2350G>C (p.Ala784Pro)	single nucleotide variant	not provided [RCV001924213]	Chr5:138932629 [GRCh38] Chr5:138268318 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.133A>C (p.Lys45Gln)	single nucleotide variant	not provided [RCV002020319]	Chr5:138783204 [GRCh38] Chr5:138118893 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2033A>G (p.Gln678Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003303575]\|not provided [RCV002001165]	Chr5:138930495 [GRCh38] Chr5:138266184 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.572C>T (p.Ala191Val)	single nucleotide variant	not provided [RCV001963707]	Chr5:138812286 [GRCh38] Chr5:138147975 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+4A>C	single nucleotide variant	not provided [RCV001886167]	Chr5:138930939 [GRCh38] Chr5:138266628 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2685G>A (p.Gln895=)	single nucleotide variant	not provided [RCV001942191]	Chr5:138934053 [GRCh38] Chr5:138269742 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2688_2689insTG (p.Leu897fs)	insertion	not provided [RCV001887262]	Chr5:138934056..138934057 [GRCh38] Chr5:138269745..138269746 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1097C>T (p.Ser366Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442995]\|not provided [RCV002038126]	Chr5:138886246 [GRCh38] Chr5:138221935 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.313A>T (p.Lys105Ter)	single nucleotide variant	not provided [RCV001877537]	Chr5:138810049 [GRCh38] Chr5:138145738 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.806A>G (p.Gln269Arg)	single nucleotide variant	not provided [RCV001942345]	Chr5:138824747 [GRCh38] Chr5:138160436 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1292T>C (p.Ile431Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386758]\|not provided [RCV001959868]	Chr5:138887638 [GRCh38] Chr5:138223327 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.826G>A (p.Gly276Arg)	single nucleotide variant	not provided [RCV001995511]	Chr5:138824767 [GRCh38] Chr5:138160456 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2709_*44dup (p.Met903_Ter907=)	duplication	not provided [RCV002016117]	Chr5:138934076..138934077 [GRCh38] Chr5:138269765..138269766 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.8C>G (p.Ala3Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370596]\|not provided [RCV001980121]	Chr5:138781932 [GRCh38] Chr5:138117621 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2710G>A (p.Asp904Asn)	single nucleotide variant	not provided [RCV002039006]	Chr5:138934078 [GRCh38] Chr5:138269767 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1018G>A (p.Val340Ile)	single nucleotide variant	not provided [RCV002010609]	Chr5:138827674 [GRCh38] Chr5:138163363 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.437A>G (p.Asp146Gly)	single nucleotide variant	not provided [RCV001961979]	Chr5:138810173 [GRCh38] Chr5:138145862 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138119071_?)del	deletion	not provided [RCV001941396]	Chr5:138117614..138119071 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.326G>T (p.Gly109Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002442999]\|not provided [RCV002000887]	Chr5:138810062 [GRCh38] Chr5:138145751 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1789G>T (p.Ala597Ser)	single nucleotide variant	not provided [RCV002032968]	Chr5:138925297 [GRCh38] Chr5:138260986 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1329T>A (p.Asn443Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386624]\|not provided [RCV001905499]	Chr5:138904381 [GRCh38] Chr5:138240070 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.260A>C (p.Lys87Thr)	single nucleotide variant	not provided [RCV001999000]	Chr5:138783331 [GRCh38] Chr5:138119020 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1669A>G (p.Thr557Ala)	single nucleotide variant	not provided [RCV001887762]	Chr5:138924632 [GRCh38] Chr5:138260321 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1566T>G (p.Asp522Glu)	single nucleotide variant	not provided [RCV001900904]	Chr5:138924529 [GRCh38] Chr5:138260218 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2410G>C (p.Gly804Arg)	single nucleotide variant	not provided [RCV001962025]	Chr5:138932689 [GRCh38] Chr5:138268378 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2104G>T (p.Val702Leu)	single nucleotide variant	not provided [RCV001888194]	Chr5:138930566 [GRCh38] Chr5:138266255 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1522A>G (p.Ile508Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388749]\|not provided [RCV001888633]	Chr5:138917874 [GRCh38] Chr5:138253563 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2667G>T (p.Lys889Asn)	single nucleotide variant	not provided [RCV002025991]	Chr5:138934035 [GRCh38] Chr5:138269724 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1151A>C (p.Lys384Thr)	single nucleotide variant	not provided [RCV002010842]	Chr5:138887497 [GRCh38] Chr5:138223186 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2287A>G (p.Ile763Val)	single nucleotide variant	not provided [RCV001921074]	Chr5:138930924 [GRCh38] Chr5:138266613 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.719A>C (p.Asn240Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170414]\|not provided [RCV002033680]	Chr5:138824660 [GRCh38] Chr5:138160349 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1424C>T (p.Pro475Leu)	single nucleotide variant	not provided [RCV001876738]	Chr5:138917776 [GRCh38] Chr5:138253465 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1875C>G (p.Ile625Met)	single nucleotide variant	not provided [RCV001876764]	Chr5:138925383 [GRCh38] Chr5:138261072 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2233G>T (p.Ala745Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003303598]\|not provided [RCV002014995]	Chr5:138930870 [GRCh38] Chr5:138266559 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.460C>G (p.Leu154Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002337146]\|not provided [RCV002018362]	Chr5:138810196 [GRCh38] Chr5:138145885 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.259A>G (p.Lys87Glu)	single nucleotide variant	not provided [RCV001997753]	Chr5:138783330 [GRCh38] Chr5:138119019 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.998T>C (p.Ile333Thr)	single nucleotide variant	not provided [RCV001962109]	Chr5:138827654 [GRCh38] Chr5:138163343 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2522C>G (p.Thr841Ser)	single nucleotide variant	not provided [RCV001888712]	Chr5:138933890 [GRCh38] Chr5:138269579 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.316G>C (p.Ala106Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375542]\|not provided [RCV002035644]	Chr5:138810052 [GRCh38] Chr5:138145741 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1818G>C (p.Met606Ile)	single nucleotide variant	not provided [RCV001981302]	Chr5:138925326 [GRCh38] Chr5:138261015 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1598A>C (p.Lys533Thr)	single nucleotide variant	not provided [RCV001878059]	Chr5:138924561 [GRCh38] Chr5:138260250 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-2A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003299047]\|not provided [RCV001887863]	Chr5:138812181 [GRCh38] Chr5:138147870 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.850A>G (p.Asn284Asp)	single nucleotide variant	not provided [RCV001956593]	Chr5:138824791 [GRCh38] Chr5:138160480 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2096A>T (p.Asp699Val)	single nucleotide variant	not provided [RCV001958324]	Chr5:138930558 [GRCh38] Chr5:138266247 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1547-20A>G	single nucleotide variant	not provided [RCV002016931]	Chr5:138924490 [GRCh38] Chr5:138260179 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2075A>G (p.Gln692Arg)	single nucleotide variant	not provided [RCV001886978]	Chr5:138930537 [GRCh38] Chr5:138266226 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1378C>T (p.Leu460Phe)	single nucleotide variant	not provided [RCV001887891]	Chr5:138904430 [GRCh38] Chr5:138240119 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.844C>G (p.Leu282Val)	single nucleotide variant	not provided [RCV001943461]	Chr5:138824785 [GRCh38] Chr5:138160474 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.191C>T (p.Ser64Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406997]\|not provided [RCV001888864]	Chr5:138783262 [GRCh38] Chr5:138118951 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.658A>G (p.Ile220Val)	single nucleotide variant	not provided [RCV001991884]	Chr5:138824599 [GRCh38] Chr5:138160288 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1981_1983del (p.Asp661del)	deletion	not provided [RCV001976220]	Chr5:138929327..138929329 [GRCh38] Chr5:138265016..138265018 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2711_*10dup (p.Asp904_Ter907=)	duplication	not provided [RCV001887042]	Chr5:138934077..138934078 [GRCh38] Chr5:138269766..138269767 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.859-3C>T	single nucleotide variant	not provided [RCV001962241]	Chr5:138827512 [GRCh38] Chr5:138163201 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1798T>C (p.Ser600Pro)	single nucleotide variant	not provided [RCV001962750]	Chr5:138925306 [GRCh38] Chr5:138260995 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.523A>G (p.Ile175Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003303387]\|not provided [RCV001923458]	Chr5:138812237 [GRCh38] Chr5:138147926 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.970T>C (p.Cys324Arg)	single nucleotide variant	not provided [RCV001999615]	Chr5:138827626 [GRCh38] Chr5:138163315 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2197A>G (p.Lys733Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425277]\|not provided [RCV001981998]	Chr5:138930834 [GRCh38] Chr5:138266523 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1325A>G (p.Asn442Ser)	single nucleotide variant	not provided [RCV001996732]	Chr5:138904377 [GRCh38] Chr5:138240066 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2545A>G (p.Met849Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425115]\|not provided [RCV001887992]	Chr5:138933913 [GRCh38] Chr5:138269602 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2045C>T (p.Ala682Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423171]\|not provided [RCV001977278]	Chr5:138930507 [GRCh38] Chr5:138266196 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138266634_?)dup	duplication	not provided [RCV001995537]	Chr5:138117614..138266634 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138266509)_(138269778_?)dup	duplication	not provided [RCV001916486]	Chr5:138266509..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2191C>G (p.Arg731Gly)	single nucleotide variant	not provided [RCV001951741]	Chr5:138930653 [GRCh38] Chr5:138266342 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1055T>A (p.Met352Lys)	single nucleotide variant	not provided [RCV002011679]	Chr5:138827711 [GRCh38] Chr5:138163400 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1112T>C (p.Met371Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002441111]\|not provided [RCV001954436]	Chr5:138886261 [GRCh38] Chr5:138221950 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.160C>A (p.Arg54Ser)	single nucleotide variant	not provided [RCV002046864]	Chr5:138783231 [GRCh38] Chr5:138118920 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1065T>A (p.Ala355=)	single nucleotide variant	not provided [RCV002048070]	Chr5:138886214 [GRCh38] Chr5:138221903 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.454G>T (p.Val152Phe)	single nucleotide variant	not provided [RCV002011797]	Chr5:138810190 [GRCh38] Chr5:138145879 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2009G>A (p.Arg670Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423184]\|not provided [RCV001976762]	Chr5:138929355 [GRCh38] Chr5:138265044 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1144C>T (p.Leu382Phe)	single nucleotide variant	not provided [RCV001932557]	Chr5:138887490 [GRCh38] Chr5:138223179 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.776C>T (p.Ala259Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407323]\|not provided [RCV002031551]	Chr5:138824717 [GRCh38] Chr5:138160406 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1633A>C (p.Ile545Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388773]\|not provided [RCV001898118]	Chr5:138924596 [GRCh38] Chr5:138260285 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2189_2192+6del	deletion	not provided [RCV001974176]	Chr5:138930651..138930660 [GRCh38] Chr5:138266340..138266349 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NC_000005.9:g.(?_138240028)_(138269778_?)del	deletion	not provided [RCV001989924]	Chr5:138240028..138269778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.899G>T (p.Arg300Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443027]\|not provided [RCV002010556]	Chr5:138827555 [GRCh38] Chr5:138163244 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2680G>C (p.Val894Leu)	single nucleotide variant	not provided [RCV001902096]	Chr5:138934048 [GRCh38] Chr5:138269737 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.694C>G (p.Pro232Ala)	single nucleotide variant	not provided [RCV002015676]	Chr5:138824635 [GRCh38] Chr5:138160324 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+14C>T	single nucleotide variant	not provided [RCV001882378]	Chr5:138810218 [GRCh38] Chr5:138145907 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2662_*1dup (p.Gln887_Ter907=)	duplication	not provided [RCV001930234]	Chr5:138934027..138934028 [GRCh38] Chr5:138269716..138269717 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.142T>G (p.Ser48Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375501]\|not provided [RCV001973261]	Chr5:138783213 [GRCh38] Chr5:138118902 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.55G>C (p.Glu19Gln)	single nucleotide variant	not provided [RCV001866485]	Chr5:138781979 [GRCh38] Chr5:138117668 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+5_105+31del	deletion	not provided [RCV001988943]	Chr5:138782030..138782056 [GRCh38] Chr5:138117719..138117745 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.101C>T (p.Thr34Ile)	single nucleotide variant	not provided [RCV001973334]	Chr5:138782025 [GRCh38] Chr5:138117714 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2680G>A (p.Val894Met)	single nucleotide variant	not provided [RCV001995232]	Chr5:138934048 [GRCh38] Chr5:138269737 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1297-5T>G	single nucleotide variant	not provided [RCV001921477]	Chr5:138904344 [GRCh38] Chr5:138240033 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.37T>G (p.Trp13Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375386]\|not provided [RCV001937268]	Chr5:138781961 [GRCh38] Chr5:138117650 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1339G>T (p.Val447Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386653]\|not provided [RCV001897274]	Chr5:138904391 [GRCh38] Chr5:138240080 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1060A>G (p.Asn354Asp)	single nucleotide variant	not provided [RCV002029004]	Chr5:138827716 [GRCh38] Chr5:138163405 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2230A>G (p.Ser744Gly)	single nucleotide variant	not provided [RCV001991677]	Chr5:138930867 [GRCh38] Chr5:138266556 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.113C>A (p.Thr38Asn)	single nucleotide variant	not provided [RCV001989175]	Chr5:138783184 [GRCh38] Chr5:138118873 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1868G>A (p.Arg623Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407279]\|not provided [RCV002028972]	Chr5:138925376 [GRCh38] Chr5:138261065 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2509_2552dup (p.Leu852fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003167016]\|not provided [RCV001901230]	Chr5:138933875..138933876 [GRCh38] Chr5:138269564..138269565 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1526A>T (p.Asp509Val)	single nucleotide variant	not provided [RCV002046340]	Chr5:138917878 [GRCh38] Chr5:138253567 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2121C>A (p.Asp707Glu)	single nucleotide variant	not provided [RCV001879569]	Chr5:138930583 [GRCh38] Chr5:138266272 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1156G>A (p.Val386Ile)	single nucleotide variant	not provided [RCV001937420]	Chr5:138887502 [GRCh38] Chr5:138223191 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1713G>T (p.Lys571Asn)	single nucleotide variant	not provided [RCV001870006]	Chr5:138924676 [GRCh38] Chr5:138260365 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.392T>C (p.Leu131Ser)	single nucleotide variant	not provided [RCV002047778]	Chr5:138810128 [GRCh38] Chr5:138145817 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1486C>G (p.Arg496Gly)	single nucleotide variant	not provided [RCV002049064]	Chr5:138917838 [GRCh38] Chr5:138253527 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1117A>T (p.Lys373Ter)	single nucleotide variant	not provided [RCV001955258]	Chr5:138886266 [GRCh38] Chr5:138221955 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003375531]\|Hereditary diffuse gastric adenocarcinoma [RCV003138015]\|not provided [RCV002010179]	Chr5:138924543..138924544 [GRCh38] Chr5:138260232..138260233 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1156G>C (p.Val386Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002359324]\|not provided [RCV001877313]	Chr5:138887502 [GRCh38] Chr5:138223191 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.531T>G (p.Tyr177Ter)	single nucleotide variant	not provided [RCV001973903]	Chr5:138812245 [GRCh38] Chr5:138147934 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.678G>A (p.Gln226=)	single nucleotide variant	not provided [RCV001917735]	Chr5:138824619 [GRCh38] Chr5:138160308 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.458A>C (p.Gln153Pro)	single nucleotide variant	not provided [RCV001978458]	Chr5:138810194 [GRCh38] Chr5:138145883 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1027G>A (p.Ala343Thr)	single nucleotide variant	not provided [RCV002017582]	Chr5:138827683 [GRCh38] Chr5:138163372 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1165C>A (p.His389Asn)	single nucleotide variant	not provided [RCV001954227]	Chr5:138887511 [GRCh38] Chr5:138223200 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+1G>C	single nucleotide variant	not provided [RCV002029357]	Chr5:138930936 [GRCh38] Chr5:138266625 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.911C>G (p.Ser304Cys)	single nucleotide variant	not provided [RCV001902682]	Chr5:138827567 [GRCh38] Chr5:138163256 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)	duplication	Hereditary diffuse gastric adenocarcinoma [RCV003136321]\|not provided [RCV001924456]	Chr5:138781991..138781992 [GRCh38] Chr5:138117680..138117681 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1363A>G (p.Ser455Gly)	single nucleotide variant	not provided [RCV002028148]	Chr5:138904415 [GRCh38] Chr5:138240104 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2320C>T (p.Gln774Ter)	single nucleotide variant	not provided [RCV001932377]	Chr5:138932599 [GRCh38] Chr5:138268288 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1032_1062+41del	deletion	not provided [RCV001883783]	Chr5:138827688..138827759 [GRCh38] Chr5:138163377..138163448 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.261G>T (p.Lys87Asn)	single nucleotide variant	not provided [RCV001900668]	Chr5:138783332 [GRCh38] Chr5:138119021 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.311T>C (p.Met104Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002324250]\|not provided [RCV001901977]	Chr5:138810047 [GRCh38] Chr5:138145736 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2056G>T (p.Glu686Ter)	single nucleotide variant	not provided [RCV002034315]	Chr5:138930518 [GRCh38] Chr5:138266207 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.595A>G (p.Lys199Glu)	single nucleotide variant	not provided [RCV001957818]	Chr5:138824536 [GRCh38] Chr5:138160225 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.8C>T (p.Ala3Val)	single nucleotide variant	not provided [RCV002017205]	Chr5:138781932 [GRCh38] Chr5:138117621 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1346T>G (p.Leu449Arg)	single nucleotide variant	not provided [RCV001982414]	Chr5:138904398 [GRCh38] Chr5:138240087 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.720C>G (p.Asn240Lys)	single nucleotide variant	not provided [RCV001974380]	Chr5:138824661 [GRCh38] Chr5:138160350 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1423C>T (p.Pro475Ser)	single nucleotide variant	not provided [RCV002013268]	Chr5:138917775 [GRCh38] Chr5:138253464 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1900-3C>T	single nucleotide variant	not provided [RCV001952139]	Chr5:138929243 [GRCh38] Chr5:138264932 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1461dup (p.Lys488Ter)	duplication	not provided [RCV001898293]	Chr5:138917808..138917809 [GRCh38] Chr5:138253497..138253498 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.284A>T (p.Glu95Val)	single nucleotide variant	not provided [RCV001937281]	Chr5:138783355 [GRCh38] Chr5:138119044 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.682T>A (p.Cys228Ser)	single nucleotide variant	not provided [RCV002027371]	Chr5:138824623 [GRCh38] Chr5:138160312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1783G>T (p.Val595Leu)	single nucleotide variant	not provided [RCV001991492]	Chr5:138925291 [GRCh38] Chr5:138260980 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2186_2187del (p.Phe729fs)	deletion	not provided [RCV001995019]	Chr5:138930647..138930648 [GRCh38] Chr5:138266336..138266337 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1087G>A (p.Ala363Thr)	single nucleotide variant	not provided [RCV001981403]	Chr5:138886236 [GRCh38] Chr5:138221925 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2629G>A (p.Glu877Lys)	single nucleotide variant	not provided [RCV002026085]	Chr5:138933997 [GRCh38] Chr5:138269686 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.651C>A (p.Asn217Lys)	single nucleotide variant	not provided [RCV001867774]	Chr5:138824592 [GRCh38] Chr5:138160281 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2689C>A (p.Leu897Ile)	single nucleotide variant	not provided [RCV001973259]	Chr5:138934057 [GRCh38] Chr5:138269746 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.148A>G (p.Lys50Glu)	single nucleotide variant	not provided [RCV001903183]	Chr5:138783219 [GRCh38] Chr5:138118908 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.65C>T (p.Thr22Ile)	single nucleotide variant	not provided [RCV001884683]	Chr5:138781989 [GRCh38] Chr5:138117678 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2612A>G (p.Lys871Arg)	single nucleotide variant	not provided [RCV001930370]	Chr5:138933980 [GRCh38] Chr5:138269669 [GRCh37] Chr5:5q31.2	uncertain significance
NC_000005.9:g.(?_138117614)_(138119071_?)dup	duplication	not provided [RCV001958133]	Chr5:138117614..138119071 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1590C>G (p.Leu530=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398013]\|not provided [RCV001958801]	Chr5:138924553 [GRCh38] Chr5:138260242 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.689A>G (p.Gln230Arg)	single nucleotide variant	not provided [RCV001884114]	Chr5:138824630 [GRCh38] Chr5:138160319 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1674dup (p.Glu559fs)	duplication	not provided [RCV002009777]	Chr5:138924636..138924637 [GRCh38] Chr5:138260325..138260326 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1051T>A (p.Tyr351Asn)	single nucleotide variant	not provided [RCV001972134]	Chr5:138827707 [GRCh38] Chr5:138163396 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1415C>T (p.Ala472Val)	single nucleotide variant	not provided [RCV002012420]	Chr5:138917767 [GRCh38] Chr5:138253456 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1148G>T (p.Arg383Leu)	single nucleotide variant	not provided [RCV001878298]	Chr5:138887494 [GRCh38] Chr5:138223183 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1502C>T (p.Ala501Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388887]\|not provided [RCV001955118]	Chr5:138917854 [GRCh38] Chr5:138253543 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.233A>T (p.Lys78Ile)	single nucleotide variant	not provided [RCV001972229]	Chr5:138783304 [GRCh38] Chr5:138118993 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.479dup (p.Ile161fs)	duplication	not provided [RCV001870133]	Chr5:138812191..138812192 [GRCh38] Chr5:138147880..138147881 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2192G>A (p.Arg731Gln)	single nucleotide variant	not provided [RCV001875575]	Chr5:138930654 [GRCh38] Chr5:138266343 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1441del (p.Gln481fs)	deletion	not provided [RCV001906772]	Chr5:138917791 [GRCh38] Chr5:138253480 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.859-2A>G	single nucleotide variant	not provided [RCV001906778]	Chr5:138827513 [GRCh38] Chr5:138163202 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-6T>G	single nucleotide variant	not provided [RCV002014004]	Chr5:138933796 [GRCh38] Chr5:138269485 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.1986_1987delinsCT (p.Gln662His)	indel	not provided [RCV002026614]	Chr5:138929332..138929333 [GRCh38] Chr5:138265021..138265022 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2552C>G (p.Ser851Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425184]\|not provided [RCV001917393]	Chr5:138933920 [GRCh38] Chr5:138269609 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.554A>G (p.Asp185Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002344140]\|not provided [RCV001995307]	Chr5:138812268 [GRCh38] Chr5:138147957 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1313G>A (p.Cys438Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375380]\|not provided [RCV001904739]	Chr5:138904365 [GRCh38] Chr5:138240054 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.202G>T (p.Ala68Ser)	single nucleotide variant	not provided [RCV001923835]	Chr5:138783273 [GRCh38] Chr5:138118962 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+4C>G	single nucleotide variant	not provided [RCV002014889]	Chr5:138812306 [GRCh38] Chr5:138147995 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1646C>A (p.Ala549Glu)	single nucleotide variant	not provided [RCV001924070]	Chr5:138924609 [GRCh38] Chr5:138260298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1583T>C (p.Ile528Thr)	single nucleotide variant	not provided [RCV001882047]	Chr5:138924546 [GRCh38] Chr5:138260235 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.815G>A (p.Gly272Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423035]\|not provided [RCV001925669]	Chr5:138824756 [GRCh38] Chr5:138160445 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2587G>A (p.Ala863Thr)	single nucleotide variant	not provided [RCV001939091]	Chr5:138933955 [GRCh38] Chr5:138269644 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1823A>C (p.Glu608Ala)	single nucleotide variant	not provided [RCV001922366]	Chr5:138925331 [GRCh38] Chr5:138261020 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2639C>T (p.Thr880Ile)	single nucleotide variant	not provided [RCV001959315]	Chr5:138934007 [GRCh38] Chr5:138269696 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1277A>G (p.His426Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370555]\|not provided [RCV001959863]	Chr5:138887623 [GRCh38] Chr5:138223312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.449T>G (p.Leu150Ter)	single nucleotide variant	not provided [RCV002035813]	Chr5:138810185 [GRCh38] Chr5:138145874 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.818GAG[3] (p.Gly276del)	microsatellite	not provided [RCV001906991]	Chr5:138824758..138824760 [GRCh38] Chr5:138160447..138160449 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1981G>A (p.Asp661Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161191]\|not provided [RCV002018076]	Chr5:138929327 [GRCh38] Chr5:138265016 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.10G>C (p.Val4Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003382760]\|not provided [RCV001959689]	Chr5:138781934 [GRCh38] Chr5:138117623 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.955_957dup (p.Met319dup)	duplication	not provided [RCV001925240]	Chr5:138827608..138827609 [GRCh38] Chr5:138163297..138163298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.125C>G (p.Thr42Ser)	single nucleotide variant	not provided [RCV001933026]	Chr5:138783196 [GRCh38] Chr5:138118885 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1431T>G (p.Ser477Arg)	single nucleotide variant	not provided [RCV001870311]	Chr5:138917783 [GRCh38] Chr5:138253472 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2503G>C (p.Ala835Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161188]\|not provided [RCV002016253]	Chr5:138933871 [GRCh38] Chr5:138269560 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.973A>C (p.Thr325Pro)	single nucleotide variant	not provided [RCV002018986]	Chr5:138827629 [GRCh38] Chr5:138163318 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1953A>T (p.Arg651Ser)	single nucleotide variant	not provided [RCV002035717]	Chr5:138929299 [GRCh38] Chr5:138264988 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1296+5G>A	single nucleotide variant	not provided [RCV001939863]	Chr5:138887647 [GRCh38] Chr5:138223336 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.77A>G (p.Glu26Gly)	single nucleotide variant	not provided [RCV001899825]	Chr5:138782001 [GRCh38] Chr5:138117690 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.650A>G (p.Asn217Ser)	single nucleotide variant	not provided [RCV002028926]	Chr5:138824591 [GRCh38] Chr5:138160280 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.86del (p.Leu29fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002370520]\|Hereditary diffuse gastric adenocarcinoma [RCV003316855]\|not provided [RCV001935895]	Chr5:138782009 [GRCh38] Chr5:138117698 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.385C>G (p.Arg129Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002359361]\|not provided [RCV001898030]	Chr5:138810121 [GRCh38] Chr5:138145810 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2118C>A (p.Asp706Glu)	single nucleotide variant	not provided [RCV001878991]	Chr5:138930580 [GRCh38] Chr5:138266269 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2217A>G (p.Thr739=)	single nucleotide variant	not provided [RCV002012437]	Chr5:138930854 [GRCh38] Chr5:138266543 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2051T>C (p.Ile684Thr)	single nucleotide variant	not provided [RCV001900815]	Chr5:138930513 [GRCh38] Chr5:138266202 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.956T>A (p.Met319Lys)	single nucleotide variant	not provided [RCV001995874]	Chr5:138827612 [GRCh38] Chr5:138163301 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1122G>T (p.Lys374Asn)	single nucleotide variant	not provided [RCV002011516]	Chr5:138886271 [GRCh38] Chr5:138221960 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2678C>A (p.Pro893Gln)	single nucleotide variant	not provided [RCV001995729]	Chr5:138934046 [GRCh38] Chr5:138269735 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588G>A (p.Gln196=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352618]\|not provided [RCV001957746]	Chr5:138812302 [GRCh38] Chr5:138147991 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.769A>G (p.Asn257Asp)	single nucleotide variant	not provided [RCV001991928]	Chr5:138824710 [GRCh38] Chr5:138160399 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1889T>C (p.Leu630Pro)	single nucleotide variant	not provided [RCV001879244]	Chr5:138925397 [GRCh38] Chr5:138261086 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2193-5C>G	single nucleotide variant	not provided [RCV001990939]	Chr5:138930825 [GRCh38] Chr5:138266514 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1658T>C (p.Ile553Thr)	single nucleotide variant	not provided [RCV001954718]	Chr5:138924621 [GRCh38] Chr5:138260310 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1063-14_1063-13del	deletion	not provided [RCV001902620]	Chr5:138886196..138886197 [GRCh38] Chr5:138221885..138221886 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-2A>T	single nucleotide variant	not provided [RCV001903969]	Chr5:138929244 [GRCh38] Chr5:138264933 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1564G>T (p.Asp522Tyr)	single nucleotide variant	not provided [RCV002027389]	Chr5:138924527 [GRCh38] Chr5:138260216 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1007A>G (p.Glu336Gly)	single nucleotide variant	not provided [RCV001867218]	Chr5:138827663 [GRCh38] Chr5:138163352 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.176A>G (p.His59Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398032]\|not provided [RCV001975724]	Chr5:138783247 [GRCh38] Chr5:138118936 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858+3A>G	single nucleotide variant	not provided [RCV001993708]	Chr5:138824802 [GRCh38] Chr5:138160491 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.841G>A (p.Ala281Thr)	single nucleotide variant	not provided [RCV002031791]	Chr5:138824782 [GRCh38] Chr5:138160471 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2309C>T (p.Ser770Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449545]\|not provided [RCV001898643]	Chr5:138932588 [GRCh38] Chr5:138268277 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1219G>A (p.Ala407Thr)	single nucleotide variant	not provided [RCV001992237]	Chr5:138887565 [GRCh38] Chr5:138223254 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2134A>C (p.Ile712Leu)	single nucleotide variant	not provided [RCV001933635]	Chr5:138930596 [GRCh38] Chr5:138266285 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1594G>A (p.Glu532Lys)	single nucleotide variant	not provided [RCV001973628]	Chr5:138924557 [GRCh38] Chr5:138260246 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1489G>A (p.Val497Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161320]\|not provided [RCV002050303]	Chr5:138917841 [GRCh38] Chr5:138253530 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2585A>G (p.Lys862Arg)	single nucleotide variant	not provided [RCV001994134]	Chr5:138933953 [GRCh38] Chr5:138269642 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.35A>G (p.Lys12Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458701]\|not provided [RCV001883302]	Chr5:138781959 [GRCh38] Chr5:138117648 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.302-8T>C	single nucleotide variant	not provided [RCV002130832]	Chr5:138810030 [GRCh38] Chr5:138145719 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+20G>A	single nucleotide variant	not provided [RCV002087500]	Chr5:138930955 [GRCh38] Chr5:138266644 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2205A>T (p.Pro735=)	single nucleotide variant	not provided [RCV002187579]	Chr5:138930842 [GRCh38] Chr5:138266531 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-14_1390-13del	deletion	not provided [RCV002088458]	Chr5:138917728..138917729 [GRCh38] Chr5:138253417..138253418 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.729G>A (p.Leu243=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382293]\|not provided [RCV002185044]	Chr5:138824670 [GRCh38] Chr5:138160359 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1257T>C (p.Tyr419=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416522]\|not provided [RCV002186457]	Chr5:138887603 [GRCh38] Chr5:138223292 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1281C>A (p.Ala427=)	single nucleotide variant	not provided [RCV002085712]	Chr5:138887627 [GRCh38] Chr5:138223316 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-12T>C	single nucleotide variant	not provided [RCV002073773]	Chr5:138887478 [GRCh38] Chr5:138223167 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-13dup	duplication	not provided [RCV002168029]	Chr5:138929232..138929233 [GRCh38] Chr5:138264921..138264922 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+15G>A	single nucleotide variant	not provided [RCV002207203]	Chr5:138930669 [GRCh38] Chr5:138266358 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1026G>A (p.Gln342=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386953]\|not provided [RCV002072573]	Chr5:138827682 [GRCh38] Chr5:138163371 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-6C>T	single nucleotide variant	not provided [RCV002189152]	Chr5:138932572 [GRCh38] Chr5:138268261 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-16C>A	single nucleotide variant	not provided [RCV002086019]	Chr5:138812167 [GRCh38] Chr5:138147856 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1515T>C (p.Ile505=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391309]\|not provided [RCV002124305]	Chr5:138917867 [GRCh38] Chr5:138253556 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2193-14T>G	single nucleotide variant	not provided [RCV002106371]	Chr5:138930816 [GRCh38] Chr5:138266505 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-7T>C	single nucleotide variant	not provided [RCV002125793]	Chr5:138932571 [GRCh38] Chr5:138268260 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-20T>A	single nucleotide variant	not provided [RCV002128897]	Chr5:138887470 [GRCh38] Chr5:138223159 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.258C>T (p.Leu86=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427701]\|not provided [RCV002146206]	Chr5:138783329 [GRCh38] Chr5:138119018 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1653G>T (p.Arg551=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398259]\|not provided [RCV002086329]	Chr5:138924616 [GRCh38] Chr5:138260305 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+16G>A	single nucleotide variant	not provided [RCV002208200]	Chr5:138824815 [GRCh38] Chr5:138160504 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2571G>A (p.Val857=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454554]\|not provided [RCV002169307]	Chr5:138933939 [GRCh38] Chr5:138269628 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2193-17C>T	single nucleotide variant	not provided [RCV002104661]	Chr5:138930813 [GRCh38] Chr5:138266502 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.825A>G (p.Gly275=)	single nucleotide variant	not provided [RCV002204934]	Chr5:138824766 [GRCh38] Chr5:138160455 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2184C>T (p.Asp728=)	single nucleotide variant	not provided [RCV002127958]	Chr5:138930646 [GRCh38] Chr5:138266335 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1695A>G (p.Pro565=)	single nucleotide variant	not provided [RCV002072579]	Chr5:138924658 [GRCh38] Chr5:138260347 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+11A>G	single nucleotide variant	not provided [RCV002192864]	Chr5:138810215 [GRCh38] Chr5:138145904 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.138G>C (p.Gly46=)	single nucleotide variant	not provided [RCV002167314]	Chr5:138783209 [GRCh38] Chr5:138118898 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.106-16A>C	single nucleotide variant	not provided [RCV002084974]	Chr5:138783161 [GRCh38] Chr5:138118850 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.207T>C (p.Thr69=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423292]\|not provided [RCV002106745]	Chr5:138783278 [GRCh38] Chr5:138118967 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+11C>A	single nucleotide variant	not provided [RCV002206300]	Chr5:138930665 [GRCh38] Chr5:138266354 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+17C>T	single nucleotide variant	not provided [RCV002089644]	Chr5:138932729 [GRCh38] Chr5:138268418 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+19T>A	single nucleotide variant	not provided [RCV002170469]	Chr5:138887661 [GRCh38] Chr5:138223350 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+20T>A	single nucleotide variant	not provided [RCV002087362]	Chr5:138810224 [GRCh38] Chr5:138145913 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.138G>A (p.Gly46=)	single nucleotide variant	not provided [RCV002110229]	Chr5:138783209 [GRCh38] Chr5:138118898 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1747+9A>G	single nucleotide variant	not provided [RCV002190538]	Chr5:138924719 [GRCh38] Chr5:138260408 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-14dup	duplication	not provided [RCV002145169]	Chr5:138933787..138933788 [GRCh38] Chr5:138269476..138269477 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+11A>G	single nucleotide variant	not provided [RCV002087886]	Chr5:138904452 [GRCh38] Chr5:138240141 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+12A>G	single nucleotide variant	not provided [RCV002191399]	Chr5:138930947 [GRCh38] Chr5:138266636 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+11G>A	single nucleotide variant	not provided [RCV002086045]	Chr5:138917909 [GRCh38] Chr5:138253598 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.105+20A>C	single nucleotide variant	not provided [RCV002125756]	Chr5:138782049 [GRCh38] Chr5:138117738 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-19T>C	single nucleotide variant	not provided [RCV002087646]	Chr5:138904330 [GRCh38] Chr5:138240019 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1023C>T (p.Arg341=)	single nucleotide variant	not provided [RCV002167058]	Chr5:138827679 [GRCh38] Chr5:138163368 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-4C>G	single nucleotide variant	not provided [RCV002168791]	Chr5:138886208 [GRCh38] Chr5:138221897 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1737C>T (p.Leu579=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398260]\|not provided [RCV002086712]	Chr5:138924700 [GRCh38] Chr5:138260389 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-20C>G	single nucleotide variant	not provided [RCV002110729]	Chr5:138827495 [GRCh38] Chr5:138163184 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-8del	deletion	not provided [RCV002146274]	Chr5:138827507 [GRCh38] Chr5:138163196 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1899+14T>C	single nucleotide variant	not provided [RCV002126759]	Chr5:138925421 [GRCh38] Chr5:138261110 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+16G>A	single nucleotide variant	not provided [RCV002147780]	Chr5:138929372 [GRCh38] Chr5:138265061 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-13A>G	single nucleotide variant	not provided [RCV002190275]	Chr5:138917729 [GRCh38] Chr5:138253418 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+20G>A	single nucleotide variant	not provided [RCV002208508]	Chr5:138929376 [GRCh38] Chr5:138265065 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-9A>T	single nucleotide variant	not provided [RCV002085461]	Chr5:138887481 [GRCh38] Chr5:138223170 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-17T>A	single nucleotide variant	not provided [RCV002174943]	Chr5:138827498 [GRCh38] Chr5:138163187 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2139T>A (p.Ile713=)	single nucleotide variant	not provided [RCV002211700]	Chr5:138930601 [GRCh38] Chr5:138266290 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1200A>G (p.Pro400=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346428]\|not provided [RCV002095749]	Chr5:138887546 [GRCh38] Chr5:138223235 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+16G>T	single nucleotide variant	not provided [RCV002188063]	Chr5:138929372 [GRCh38] Chr5:138265061 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1435C>T (p.Leu479=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391269]\|not provided [RCV002134952]	Chr5:138917787 [GRCh38] Chr5:138253476 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-19G>A	single nucleotide variant	not provided [RCV002174976]	Chr5:138827496 [GRCh38] Chr5:138163185 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+17A>G	single nucleotide variant	not provided [RCV002195132]	Chr5:138904458 [GRCh38] Chr5:138240147 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+14C>T	single nucleotide variant	not provided [RCV002072830]	Chr5:138930668 [GRCh38] Chr5:138266357 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.264G>A (p.Glu88=)	single nucleotide variant	not provided [RCV002171301]	Chr5:138783335 [GRCh38] Chr5:138119024 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+19G>A	single nucleotide variant	not provided [RCV002129515]	Chr5:138929375 [GRCh38] Chr5:138265064 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.942T>C (p.Ser314=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373042]\|not provided [RCV002196301]	Chr5:138827598 [GRCh38] Chr5:138163287 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-16T>G	single nucleotide variant	not provided [RCV002125134]	Chr5:138924494 [GRCh38] Chr5:138260183 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+13G>C	single nucleotide variant	not provided [RCV002106825]	Chr5:138827731 [GRCh38] Chr5:138163420 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+18del	deletion	not provided [RCV002089801]	Chr5:138917913 [GRCh38] Chr5:138253602 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.894G>A (p.Glu298=)	single nucleotide variant	not provided [RCV002132877]	Chr5:138827550 [GRCh38] Chr5:138163239 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2292A>C (p.Ala764=)	single nucleotide variant	not provided [RCV002077627]	Chr5:138930929 [GRCh38] Chr5:138266618 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+11G>A	single nucleotide variant	not provided [RCV002115032]	Chr5:138930946 [GRCh38] Chr5:138266635 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+18C>G	single nucleotide variant	not provided [RCV002151894]	Chr5:138904459 [GRCh38] Chr5:138240148 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-6A>T	single nucleotide variant	not provided [RCV002111764]	Chr5:138886206 [GRCh38] Chr5:138221895 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.147T>C (p.Asn49=)	single nucleotide variant	not provided [RCV002116734]	Chr5:138783218 [GRCh38] Chr5:138118907 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.141C>T (p.Pro47=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391174]\|not provided [RCV002197287]	Chr5:138783212 [GRCh38] Chr5:138118901 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+11G>C	single nucleotide variant	not provided [RCV002113858]	Chr5:138932723 [GRCh38] Chr5:138268412 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-13A>C	single nucleotide variant	not provided [RCV002079922]	Chr5:138887477 [GRCh38] Chr5:138223166 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1899+19G>T	single nucleotide variant	not provided [RCV002175095]	Chr5:138925426 [GRCh38] Chr5:138261115 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-18G>A	single nucleotide variant	not provided [RCV002116865]	Chr5:138812165 [GRCh38] Chr5:138147854 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+17G>A	single nucleotide variant	not provided [RCV002208890]	Chr5:138812319 [GRCh38] Chr5:138148008 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.460C>T (p.Leu154=)	single nucleotide variant	not provided [RCV002214649]	Chr5:138810196 [GRCh38] Chr5:138145885 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.106-12T>C	single nucleotide variant	not provided [RCV002215244]	Chr5:138783165 [GRCh38] Chr5:138118854 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-19G>T	single nucleotide variant	not provided [RCV002175131]	Chr5:138812164 [GRCh38] Chr5:138147853 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+17A>G	single nucleotide variant	not provided [RCV002216342]	Chr5:138810221 [GRCh38] Chr5:138145910 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+9A>G	single nucleotide variant	CTNNA1-related condition [RCV003958544]\|not provided [RCV002187858]	Chr5:138812311 [GRCh38] Chr5:138148000 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-12_1900-9del	deletion	not provided [RCV002128645]	Chr5:138929232..138929235 [GRCh38] Chr5:138264921..138264924 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+11G>C	single nucleotide variant	not provided [RCV002213334]	Chr5:138812313 [GRCh38] Chr5:138148002 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+16T>C	single nucleotide variant	not provided [RCV002152286]	Chr5:138827734 [GRCh38] Chr5:138163423 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-5T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382403]\|not provided [RCV002113755]	Chr5:138904344 [GRCh38] Chr5:138240033 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.468+17_468+21del	deletion	not provided [RCV002212063]	Chr5:138810221..138810225 [GRCh38] Chr5:138145910..138145914 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.48A>G (p.Lys16=)	single nucleotide variant	not provided [RCV002194652]	Chr5:138781972 [GRCh38] Chr5:138117661 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1143+8_1143+9delinsCA	indel	not provided [RCV002196420]	Chr5:138886300..138886301 [GRCh38] Chr5:138221989..138221990 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.93T>A (p.Pro31=)	single nucleotide variant	not provided [RCV002171728]	Chr5:138782017 [GRCh38] Chr5:138117706 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+15C>T	single nucleotide variant	not provided [RCV002187038]	Chr5:138929371 [GRCh38] Chr5:138265060 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+10A>G	single nucleotide variant	not provided [RCV002187247]	Chr5:138827728 [GRCh38] Chr5:138163417 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-13G>A	single nucleotide variant	not provided [RCV002170888]	Chr5:138929233 [GRCh38] Chr5:138264922 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1005A>G (p.Ala335=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375588]\|not provided [RCV002093982]	Chr5:138827661 [GRCh38] Chr5:138163350 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.84G>A (p.Leu28=)	single nucleotide variant	not provided [RCV002105406]	Chr5:138782008 [GRCh38] Chr5:138117697 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-18T>G	single nucleotide variant	not provided [RCV002114087]	Chr5:138887472 [GRCh38] Chr5:138223161 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+20G>A	single nucleotide variant	not provided [RCV002077105]	Chr5:138917918 [GRCh38] Chr5:138253607 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+18C>T	single nucleotide variant	not provided [RCV002213359]	Chr5:138930953 [GRCh38] Chr5:138266642 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1506C>G (p.Val502=)	single nucleotide variant	not provided [RCV002131037]	Chr5:138917858 [GRCh38] Chr5:138253547 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-11C>T	single nucleotide variant	not provided [RCV002076608]	Chr5:138929235 [GRCh38] Chr5:138264924 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-14del	deletion	not provided [RCV002213459]	Chr5:138933788 [GRCh38] Chr5:138269477 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.537C>T (p.Ala179=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346525]\|not provided [RCV002151949]	Chr5:138812251 [GRCh38] Chr5:138147940 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2011-17dup	duplication	not provided [RCV002133931]	Chr5:138930453..138930454 [GRCh38] Chr5:138266142..138266143 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.273G>A (p.Val91=)	single nucleotide variant	not provided [RCV002215615]	Chr5:138783344 [GRCh38] Chr5:138119033 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.927G>A (p.Leu309=)	single nucleotide variant	not provided [RCV002171946]	Chr5:138827583 [GRCh38] Chr5:138163272 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2145G>T (p.Leu715=)	single nucleotide variant	not provided [RCV002145376]	Chr5:138930607 [GRCh38] Chr5:138266296 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1747+20C>G	single nucleotide variant	not provided [RCV002093811]	Chr5:138924730 [GRCh38] Chr5:138260419 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.1900-13G>T	single nucleotide variant	not provided [RCV002133486]	Chr5:138929233 [GRCh38] Chr5:138264922 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+13T>C	single nucleotide variant	not provided [RCV002213409]	Chr5:138824812 [GRCh38] Chr5:138160501 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1023C>A (p.Arg341=)	single nucleotide variant	not provided [RCV002116886]	Chr5:138827679 [GRCh38] Chr5:138163368 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1236T>C (p.Asn412=)	single nucleotide variant	not provided [RCV002171263]	Chr5:138887582 [GRCh38] Chr5:138223271 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.402T>C (p.Ala134=)	single nucleotide variant	not provided [RCV002075766]	Chr5:138810138 [GRCh38] Chr5:138145827 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.685C>T (p.Leu229=)	single nucleotide variant	not provided [RCV002149793]	Chr5:138824626 [GRCh38] Chr5:138160315 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+16C>T	single nucleotide variant	not provided [RCV002096377]	Chr5:138917914 [GRCh38] Chr5:138253603 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-12C>G	single nucleotide variant	not provided [RCV002150294]	Chr5:138925244 [GRCh38] Chr5:138260933 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+11G>A	single nucleotide variant	not provided [RCV002174643]	Chr5:138929367 [GRCh38] Chr5:138265056 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-16C>G	single nucleotide variant	not provided [RCV002082957]	Chr5:138812167 [GRCh38] Chr5:138147856 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1578T>C (p.Cys526=)	single nucleotide variant	not provided [RCV002155608]	Chr5:138924541 [GRCh38] Chr5:138260230 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+16C>T	single nucleotide variant	not provided [RCV002175290]	Chr5:138904457 [GRCh38] Chr5:138240146 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2391G>A (p.Lys797=)	single nucleotide variant	not provided [RCV002137250]	Chr5:138932670 [GRCh38] Chr5:138268359 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+18G>T	single nucleotide variant	not provided [RCV002099826]	Chr5:138812320 [GRCh38] Chr5:138148009 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1143+8G>T	single nucleotide variant	not provided [RCV002101814]	Chr5:138886300 [GRCh38] Chr5:138221989 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.549A>G (p.Glu183=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346520]\|not provided [RCV002154082]	Chr5:138812263 [GRCh38] Chr5:138147952 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+17C>T	single nucleotide variant	not provided [RCV002139002]	Chr5:138930671 [GRCh38] Chr5:138266360 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-11T>C	single nucleotide variant	not provided [RCV002123360]	Chr5:138932567 [GRCh38] Chr5:138268256 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+17G>C	single nucleotide variant	not provided [RCV002157796]	Chr5:138812319 [GRCh38] Chr5:138148008 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2253G>A (p.Glu751=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443143]\|not provided [RCV002218713]	Chr5:138930890 [GRCh38] Chr5:138266579 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-15C>G	single nucleotide variant	not provided [RCV002198237]	Chr5:138932563 [GRCh38] Chr5:138268252 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1747+17T>G	single nucleotide variant	not provided [RCV002098357]	Chr5:138924727 [GRCh38] Chr5:138260416 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.111A>G (p.Thr37=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002434586]\|not provided [RCV002181452]	Chr5:138783182 [GRCh38] Chr5:138118871 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+12C>G	single nucleotide variant	not provided [RCV002217202]	Chr5:138904453 [GRCh38] Chr5:138240142 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.801C>T (p.Ala267=)	single nucleotide variant	not provided [RCV002217184]	Chr5:138824742 [GRCh38] Chr5:138160431 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1590C>T (p.Leu530=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398247]\|not provided [RCV002139672]	Chr5:138924553 [GRCh38] Chr5:138260242 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1002G>A (p.Val334=)	single nucleotide variant	not provided [RCV002164707]	Chr5:138827658 [GRCh38] Chr5:138163347 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+8A>T	single nucleotide variant	not provided [RCV002119177]	Chr5:138783380 [GRCh38] Chr5:138119069 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-19A>C	single nucleotide variant	not provided [RCV002137135]	Chr5:138929227 [GRCh38] Chr5:138264916 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1410T>C (p.Ala470=)	single nucleotide variant	not provided [RCV002218617]	Chr5:138917762 [GRCh38] Chr5:138253451 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.819A>G (p.Gly273=)	single nucleotide variant	not provided [RCV002098166]	Chr5:138824760 [GRCh38] Chr5:138160449 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2106G>A (p.Val702=)	single nucleotide variant	not provided [RCV002158101]	Chr5:138930568 [GRCh38] Chr5:138266257 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-8G>A	single nucleotide variant	not provided [RCV002204002]	Chr5:138904341 [GRCh38] Chr5:138240030 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.592T>C (p.Leu198=)	single nucleotide variant	not provided [RCV002143156]	Chr5:138824533 [GRCh38] Chr5:138160222 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2538A>C (p.Ser846=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375597]\|not provided [RCV002143297]	Chr5:138933906 [GRCh38] Chr5:138269595 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-11C>G	single nucleotide variant	not provided [RCV002143504]	Chr5:138929235 [GRCh38] Chr5:138264924 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2011-14G>A	single nucleotide variant	not provided [RCV002179906]	Chr5:138930459 [GRCh38] Chr5:138266148 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-15_2434-14del	deletion	not provided [RCV002082307]	Chr5:138933787..138933788 [GRCh38] Chr5:138269476..138269477 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-15A>G	single nucleotide variant	not provided [RCV002120455]	Chr5:138827500 [GRCh38] Chr5:138163189 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.132T>C (p.Ser44=)	single nucleotide variant	not provided [RCV002204717]	Chr5:138783203 [GRCh38] Chr5:138118892 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.106-252_106-6del	deletion	not provided [RCV002099073]	Chr5:138782925..138783171 [GRCh38] Chr5:138118614..138118860 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-11T>A	single nucleotide variant	not provided [RCV002178612]	Chr5:138924499 [GRCh38] Chr5:138260188 [GRCh37] Chr5:5q31.2	likely benign\|conflicting interpretations of pathogenicity
NM_001903.5(CTNNA1):c.150G>A (p.Lys50=)	single nucleotide variant	not provided [RCV002140417]	Chr5:138783221 [GRCh38] Chr5:138118910 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+19T>G	single nucleotide variant	not provided [RCV002164636]	Chr5:138904460 [GRCh38] Chr5:138240149 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1173A>G (p.Ser391=)	single nucleotide variant	not provided [RCV002162499]	Chr5:138887519 [GRCh38] Chr5:138223208 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.415C>T (p.Leu139=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375590]\|not provided [RCV002101585]	Chr5:138810151 [GRCh38] Chr5:138145840 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.120A>G (p.Val40=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375578]\|not provided [RCV002097755]	Chr5:138783191 [GRCh38] Chr5:138118880 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.6T>G (p.Thr2=)	single nucleotide variant	not provided [RCV002081215]	Chr5:138781930 [GRCh38] Chr5:138117619 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.747G>A (p.Gln249=)	single nucleotide variant	not provided [RCV002101754]	Chr5:138824688 [GRCh38] Chr5:138160377 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-16A>G	single nucleotide variant	not provided [RCV002117499]	Chr5:138827499 [GRCh38] Chr5:138163188 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+19C>T	single nucleotide variant	not provided [RCV002097828]	Chr5:138930673 [GRCh38] Chr5:138266362 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-13_469-10del	microsatellite	not provided [RCV002202892]	Chr5:138812166..138812169 [GRCh38] Chr5:138147855..138147858 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+16T>A	single nucleotide variant	not provided [RCV002156041]	Chr5:138783388 [GRCh38] Chr5:138119077 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.174C>T (p.Ala58=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398223]\|not provided [RCV002119659]	Chr5:138783245 [GRCh38] Chr5:138118934 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-12T>A	single nucleotide variant	not provided [RCV002102072]	Chr5:138904337 [GRCh38] Chr5:138240026 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.774A>T (p.Ala258=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161467]\|not provided [RCV002100169]	Chr5:138824715 [GRCh38] Chr5:138160404 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.105+18C>G	single nucleotide variant	not provided [RCV002100529]	Chr5:138782047 [GRCh38] Chr5:138117736 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.90G>A (p.Glu30=)	single nucleotide variant	not provided [RCV002141030]	Chr5:138782014 [GRCh38] Chr5:138117703 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+13C>G	single nucleotide variant	not provided [RCV002217157]	Chr5:138930667 [GRCh38] Chr5:138266356 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.888C>T (p.Phe296=)	single nucleotide variant	not provided [RCV002159790]	Chr5:138827544 [GRCh38] Chr5:138163233 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+15C>G	single nucleotide variant	not provided [RCV002200456]	Chr5:138783387 [GRCh38] Chr5:138119076 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.192T>G (p.Ser64=)	single nucleotide variant	not provided [RCV002183293]	Chr5:138783263 [GRCh38] Chr5:138118952 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.302-14A>G	single nucleotide variant	not provided [RCV002200748]	Chr5:138810024 [GRCh38] Chr5:138145713 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+11T>A	single nucleotide variant	not provided [RCV002143400]	Chr5:138887653 [GRCh38] Chr5:138223342 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1899+20A>G	single nucleotide variant	not provided [RCV002198943]	Chr5:138925427 [GRCh38] Chr5:138261116 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-18G>T	single nucleotide variant	not provided [RCV002118728]	Chr5:138812165 [GRCh38] Chr5:138147854 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.966G>T (p.Ser322=)	single nucleotide variant	not provided [RCV002176437]	Chr5:138827622 [GRCh38] Chr5:138163311 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2010+21del	deletion	not provided [RCV002136714]	Chr5:138929374 [GRCh38] Chr5:138265063 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.321T>G (p.Ala107=)	single nucleotide variant	not provided [RCV002082769]	Chr5:138810057 [GRCh38] Chr5:138145746 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-6C>T	single nucleotide variant	not provided [RCV002201341]	Chr5:138887484 [GRCh38] Chr5:138223173 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.885C>T (p.Ser295=)	single nucleotide variant	not provided [RCV002201689]	Chr5:138827541 [GRCh38] Chr5:138163230 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1547-14T>C	single nucleotide variant	not provided [RCV002178939]	Chr5:138924496 [GRCh38] Chr5:138260185 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1485C>G (p.Val495=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391349]\|not provided [RCV002203032]	Chr5:138917837 [GRCh38] Chr5:138253526 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+7C>A	single nucleotide variant	not provided [RCV002142981]	Chr5:138783379 [GRCh38] Chr5:138119068 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+20C>G	single nucleotide variant	not provided [RCV002161659]	Chr5:138887662 [GRCh38] Chr5:138223351 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2679G>C (p.Pro893=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427544]\|not provided [RCV002177127]	Chr5:138934047 [GRCh38] Chr5:138269736 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1899+16T>A	single nucleotide variant	not provided [RCV002177169]	Chr5:138925423 [GRCh38] Chr5:138261112 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.302-12T>G	single nucleotide variant	not provided [RCV002183135]	Chr5:138810026 [GRCh38] Chr5:138145715 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.225G>A (p.Lys75=)	single nucleotide variant	not provided [RCV002183186]	Chr5:138783296 [GRCh38] Chr5:138118985 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1275A>G (p.Glu425=)	single nucleotide variant	not provided [RCV002183187]	Chr5:138887621 [GRCh38] Chr5:138223310 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1719G>A (p.Leu573=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398147]\|not provided [RCV002179468]	Chr5:138924682 [GRCh38] Chr5:138260371 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.708C>G (p.Ala236=)	single nucleotide variant	not provided [RCV002220886]	Chr5:138824649 [GRCh38] Chr5:138160338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-19G>C	single nucleotide variant	not provided [RCV002200248]	Chr5:138824511 [GRCh38] Chr5:138160200 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-20G>T	single nucleotide variant	not provided [RCV002198398]	Chr5:138929226 [GRCh38] Chr5:138264915 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-14T>C	single nucleotide variant	not provided [RCV002159675]	Chr5:138933788 [GRCh38] Chr5:138269477 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.492G>A (p.Leu164=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002337353]\|not provided [RCV002137996]	Chr5:138812206 [GRCh38] Chr5:138147895 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+14_1296+16del	deletion	not provided [RCV002122041]	Chr5:138887654..138887656 [GRCh38] Chr5:138223343..138223345 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.417G>C (p.Leu139=)	single nucleotide variant	not provided [RCV002141617]	Chr5:138810153 [GRCh38] Chr5:138145842 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1728T>C (p.Thr576=)	single nucleotide variant	not provided [RCV002198712]	Chr5:138924691 [GRCh38] Chr5:138260380 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-19G>C	single nucleotide variant	not provided [RCV002219443]	Chr5:138812164 [GRCh38] Chr5:138147853 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.681A>G (p.Ala227=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363704]\|not provided [RCV002181848]	Chr5:138824622 [GRCh38] Chr5:138160311 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1957A>C (p.Arg653=)	single nucleotide variant	not provided [RCV002182619]	Chr5:138929303 [GRCh38] Chr5:138264992 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+7T>G	single nucleotide variant	not provided [RCV002176742]	Chr5:138827725 [GRCh38] Chr5:138163414 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1344G>A (p.Lys448=)	single nucleotide variant	not provided [RCV002199632]	Chr5:138904396 [GRCh38] Chr5:138240085 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.451C>T (p.Leu151Phe)	single nucleotide variant	not provided [RCV003110090]	Chr5:138810187 [GRCh38] Chr5:138145876 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2328G>T (p.Leu776=)	single nucleotide variant	not provided [RCV003110741]	Chr5:138932607 [GRCh38] Chr5:138268296 [GRCh37] Chr5:5q31.2	likely benign
NC_000005.9:g.(?_136957787)_(140078137_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437]	Chr5:136957787..140078137 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NC_000005.9:g.(?_136957787)_(138861289_?)del	deletion	STING-associated vasculopathy with onset in infancy [RCV003113978]	Chr5:136957787..138861289 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1546+15C>A	single nucleotide variant	not provided [RCV003115047]	Chr5:138917913 [GRCh38] Chr5:138253602 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2274G>A (p.Lys758=)	single nucleotide variant	not provided [RCV003118426]	Chr5:138930911 [GRCh38] Chr5:138266600 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1559del (p.Leu520fs)	deletion	Polyposis syndrome, hereditary mixed, 1 [RCV002275370]	Chr5:138924519 [GRCh38] Chr5:138260208 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.2665A>G (p.Lys889Glu)	single nucleotide variant	Polyposis syndrome, hereditary mixed, 1 [RCV002275372]	Chr5:138934033 [GRCh38] Chr5:138269722 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)	single nucleotide variant	Colorectal cancer [RCV002275718]	Chr5:138933838 [GRCh38] Chr5:138269527 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1392del (p.Ile465fs)	deletion	Polyposis syndrome, hereditary mixed, 1 [RCV002275720]	Chr5:138917743 [GRCh38] Chr5:138253432 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2213del (p.Asn738fs)	deletion	Colorectal cancer [RCV002274827]	Chr5:138930846 [GRCh38] Chr5:138266535 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.2043del (p.Ala682fs)	deletion	Colorectal cancer [RCV002274829]\|not provided [RCV003101560]	Chr5:138930501 [GRCh38] Chr5:138266190 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)	single nucleotide variant	Colorectal cancer [RCV002274836]	Chr5:138783234 [GRCh38] Chr5:138118923 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1715T>C (p.Val572Ala)	single nucleotide variant	Polyposis syndrome, hereditary mixed, 1 [RCV002275371]	Chr5:138924678 [GRCh38] Chr5:138260367 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2600del (p.Lys867fs)	deletion	Colorectal cancer [RCV002276251]	Chr5:138933964 [GRCh38] Chr5:138269653 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1645del (p.Ala549fs)	deletion	Colorectal cancer [RCV002274832]	Chr5:138924606 [GRCh38] Chr5:138260295 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1229A>G (p.Asn410Ser)	single nucleotide variant	Colorectal cancer [RCV002274828]\|not provided [RCV003774877]	Chr5:138887575 [GRCh38] Chr5:138223264 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.235del (p.Ile79fs)	deletion	Polyposis syndrome, hereditary mixed, 1 [RCV002275719]	Chr5:138783303 [GRCh38] Chr5:138118992 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.619A>T (p.Met207Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002366429]	Chr5:138824560 [GRCh38] Chr5:138160249 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1376C>T (p.Ala459Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383825]\|not provided [RCV003774293]	Chr5:138904428 [GRCh38] Chr5:138240117 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.369C>T (p.Asn123=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348876]\|not provided [RCV003546770]	Chr5:138810105 [GRCh38] Chr5:138145794 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2047A>G (p.Lys683Glu)	single nucleotide variant	Colorectal cancer [RCV002274835]	Chr5:138930509 [GRCh38] Chr5:138266198 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1597A>G (p.Lys533Glu)	single nucleotide variant	Colorectal cancer [RCV002274833]\|Hereditary cancer-predisposing syndrome [RCV002400408]\|not provided [RCV003679088]	Chr5:138924560 [GRCh38] Chr5:138260249 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.798T>C (p.Asp266=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002419083]	Chr5:138824739 [GRCh38] Chr5:138160428 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.373G>C (p.Val125Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002349233]	Chr5:138810109 [GRCh38] Chr5:138145798 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1944del (p.Phe648fs)	deletion	Colorectal cancer [RCV002274834]	Chr5:138929287 [GRCh38] Chr5:138264976 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.36G>A (p.Lys12=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348906]	Chr5:138781960 [GRCh38] Chr5:138117649 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.744G>A (p.Leu248=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002385109]	Chr5:138824685 [GRCh38] Chr5:138160374 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1076A>T (p.Glu359Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002419912]	Chr5:138886225 [GRCh38] Chr5:138221914 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.633A>T (p.Arg211Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368919]\|not provided [RCV003103291]	Chr5:138824574 [GRCh38] Chr5:138160263 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1333G>A (p.Glu445Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387546]\|not provided [RCV003103651]	Chr5:138904385 [GRCh38] Chr5:138240074 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.297del (p.Lys99fs)	deletion	Colorectal cancer [RCV002274830]	Chr5:138783365 [GRCh38] Chr5:138119054 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1045del (p.Ser349fs)	deletion	Colorectal cancer [RCV002274831]	Chr5:138827699 [GRCh38] Chr5:138163388 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2231G>C (p.Ser744Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002420141]	Chr5:138930868 [GRCh38] Chr5:138266557 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1119G>A (p.Lys373=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002437671]	Chr5:138886268 [GRCh38] Chr5:138221957 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.714G>C (p.Lys238Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367531]	Chr5:138824655 [GRCh38] Chr5:138160344 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1337G>C (p.Gly446Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387620]	Chr5:138904389 [GRCh38] Chr5:138240078 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1333G>C (p.Glu445Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387550]	Chr5:138904385 [GRCh38] Chr5:138240074 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.668C>G (p.Thr223Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367061]\|not provided [RCV003098332]	Chr5:138824609 [GRCh38] Chr5:138160298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.258C>G (p.Leu86=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002437086]	Chr5:138783329 [GRCh38] Chr5:138119018 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2661G>A (p.Gln887=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002453128]	Chr5:138934029 [GRCh38] Chr5:138269718 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2044G>A (p.Ala682Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002419975]\|not provided [RCV003738260]	Chr5:138930506 [GRCh38] Chr5:138266195 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.669T>C (p.Thr223=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367123]	Chr5:138824610 [GRCh38] Chr5:138160299 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2619G>A (p.Glu873=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002437217]\|not provided [RCV003561039]	Chr5:138933987 [GRCh38] Chr5:138269676 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.668C>T (p.Thr223Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367064]	Chr5:138824609 [GRCh38] Chr5:138160298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2590C>G (p.Pro864Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002452890]	Chr5:138933958 [GRCh38] Chr5:138269647 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2671G>T (p.Val891Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002437293]	Chr5:138934039 [GRCh38] Chr5:138269728 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1336G>A (p.Gly446Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387593]	Chr5:138904388 [GRCh38] Chr5:138240077 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.47A>G (p.Lys16Arg)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003475332]\|not provided [RCV002297221]	Chr5:138781971 [GRCh38] Chr5:138117660 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.98T>A (p.Val33Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387462]	Chr5:138782022 [GRCh38] Chr5:138117711 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.289G>T (p.Val97Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438029]	Chr5:138783360 [GRCh38] Chr5:138119049 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.501T>C (p.Ala167=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002351397]\|not provided [RCV003096570]	Chr5:138812215 [GRCh38] Chr5:138147904 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1125C>A (p.Thr375=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002435823]	Chr5:138886274 [GRCh38] Chr5:138221963 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1125C>G (p.Thr375=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002435849]	Chr5:138886274 [GRCh38] Chr5:138221963 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2631G>C (p.Glu877Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002452934]	Chr5:138933999 [GRCh38] Chr5:138269688 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.101C>G (p.Thr34Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002366904]	Chr5:138782025 [GRCh38] Chr5:138117714 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1125C>T (p.Thr375=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002435881]	Chr5:138886274 [GRCh38] Chr5:138221963 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1152A>G (p.Lys384=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002349094]\|not provided [RCV003094327]	Chr5:138887498 [GRCh38] Chr5:138223187 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1202T>G (p.Leu401Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002351675]	Chr5:138887548 [GRCh38] Chr5:138223237 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.676C>T (p.Gln226Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002369305]	Chr5:138824617 [GRCh38] Chr5:138160306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.288T>A (p.Asp96Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002437910]	Chr5:138783359 [GRCh38] Chr5:138119048 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.70G>T (p.Ala24Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367365]	Chr5:138781994 [GRCh38] Chr5:138117683 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.812A>G (p.Gln271Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421314]	Chr5:138824753 [GRCh38] Chr5:138160442 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.885C>G (p.Ser295Arg)	single nucleotide variant	not provided [RCV003149401]	Chr5:138827541 [GRCh38] Chr5:138163230 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2203C>T (p.Pro735Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301427]	Chr5:138930840 [GRCh38] Chr5:138266529 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1138A>C (p.Arg380=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301428]	Chr5:138886287 [GRCh38] Chr5:138221976 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.98T>C (p.Val33Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301436]	Chr5:138782022 [GRCh38] Chr5:138117711 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.961G>T (p.Asp321Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301437]\|not provided [RCV003730519]	Chr5:138827617 [GRCh38] Chr5:138163306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.279T>A (p.Ala93=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301444]\|not provided [RCV003699062]	Chr5:138783350 [GRCh38] Chr5:138119039 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1864A>T (p.Ile622Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414968]\|not provided [RCV003097311]	Chr5:138925372 [GRCh38] Chr5:138261061 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.186T>C (p.Ala62=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002415086]	Chr5:138783257 [GRCh38] Chr5:138118946 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1817T>C (p.Met606Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410288]	Chr5:138925325 [GRCh38] Chr5:138261014 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1802A>G (p.Asp601Gly)	single nucleotide variant	not provided [RCV002681647]	Chr5:138925310 [GRCh38] Chr5:138260999 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1827T>C (p.Asn609=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410462]	Chr5:138925335 [GRCh38] Chr5:138261024 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1102A>C (p.Ile368Leu)	single nucleotide variant	not provided [RCV002474127]	Chr5:138886251 [GRCh38] Chr5:138221940 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.498del (p.Asn166fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002342935]	Chr5:138812212 [GRCh38] Chr5:138147901 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1935A>T (p.Thr645=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410977]	Chr5:138929281 [GRCh38] Chr5:138264970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-7T>C	single nucleotide variant	not provided [RCV002858629]	Chr5:138887483 [GRCh38] Chr5:138223172 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1246G>A (p.Val416Ile)	single nucleotide variant	not provided [RCV002302630]	Chr5:138887592 [GRCh38] Chr5:138223281 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2001G>A (p.Gln667=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417187]	Chr5:138929347 [GRCh38] Chr5:138265036 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2008C>T (p.Arg670Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417291]	Chr5:138929354 [GRCh38] Chr5:138265043 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.200A>G (p.Gln67Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417309]\|not provided [RCV003101002]	Chr5:138783271 [GRCh38] Chr5:138118960 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1833T>G (p.Phe611Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002412696]	Chr5:138925341 [GRCh38] Chr5:138261030 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2167A>G (p.Met723Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417923]	Chr5:138930629 [GRCh38] Chr5:138266318 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.559C>T (p.Leu187=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002344858]\|not provided [RCV003103196]	Chr5:138812273 [GRCh38] Chr5:138147962 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+14G>A	single nucleotide variant	not provided [RCV002837978]	Chr5:138824813 [GRCh38] Chr5:138160502 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1205T>C (p.Leu402Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002345034]\|not provided [RCV003096817]	Chr5:138887551 [GRCh38] Chr5:138223240 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1964G>A (p.Ser655Asn)	single nucleotide variant	not provided [RCV003012586]	Chr5:138929310 [GRCh38] Chr5:138264999 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.12C>T (p.Val4=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002380786]	Chr5:138781936 [GRCh38] Chr5:138117625 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.694C>A (p.Pro232Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002378145]	Chr5:138824635 [GRCh38] Chr5:138160324 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2181A>G (p.Thr727=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432903]	Chr5:138930643 [GRCh38] Chr5:138266332 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1677G>A (p.Glu559=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405962]	Chr5:138924640 [GRCh38] Chr5:138260329 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2603C>T (p.Pro868Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002426274]	Chr5:138933971 [GRCh38] Chr5:138269660 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459900]\|Patterned macular dystrophy 2 [RCV003475384]	Chr5:138932716 [GRCh38] Chr5:138268405 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1186G>A (p.Glu396Lys)	single nucleotide variant	not provided [RCV002300486]	Chr5:138887532 [GRCh38] Chr5:138223221 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1392T>A (p.Val464=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389055]	Chr5:138917744 [GRCh38] Chr5:138253433 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1638A>C (p.Arg546=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002403486]\|not provided [RCV003097042]	Chr5:138924601 [GRCh38] Chr5:138260290 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2542G>T (p.Gly848Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433240]	Chr5:138933910 [GRCh38] Chr5:138269599 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1699G>T (p.Val567Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406275]	Chr5:138924662 [GRCh38] Chr5:138260351 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.657G>C (p.Pro219=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002364502]	Chr5:138824598 [GRCh38] Chr5:138160287 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1529A>T (p.Asp510Val)	single nucleotide variant	not provided [RCV002304094]	Chr5:138917881 [GRCh38] Chr5:138253570 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.798T>G (p.Asp266Glu)	single nucleotide variant	not provided [RCV002304107]	Chr5:138824739 [GRCh38] Chr5:138160428 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.307T>G (p.Leu103Val)	single nucleotide variant	not provided [RCV002304184]	Chr5:138810043 [GRCh38] Chr5:138145732 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.139C>T (p.Pro47Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389205]	Chr5:138783210 [GRCh38] Chr5:138118899 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.398C>G (p.Ser133Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357766]	Chr5:138810134 [GRCh38] Chr5:138145823 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2262C>T (p.Ser754=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443763]\|not provided [RCV003775162]	Chr5:138930899 [GRCh38] Chr5:138266588 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.921G>A (p.Glu307=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002371286]	Chr5:138827577 [GRCh38] Chr5:138163266 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.140C>T (p.Pro47Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389465]\|not provided [RCV003095113]	Chr5:138783211 [GRCh38] Chr5:138118900 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.594G>C (p.Leu198Phe)	single nucleotide variant	not provided [RCV002301619]	Chr5:138824535 [GRCh38] Chr5:138160224 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1388A>T (p.Gln463Leu)	single nucleotide variant	not provided [RCV002304693]	Chr5:138904440 [GRCh38] Chr5:138240129 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.172G>A (p.Ala58Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407407]\|not provided [RCV003097186]	Chr5:138783243 [GRCh38] Chr5:138118932 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2106G>T (p.Val702=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424308]	Chr5:138930568 [GRCh38] Chr5:138266257 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1612C>T (p.Leu538=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400920]	Chr5:138924575 [GRCh38] Chr5:138260264 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.789C>T (p.Ala263=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416611]	Chr5:138824730 [GRCh38] Chr5:138160419 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1153G>C (p.Ala385Pro)	single nucleotide variant	not provided [RCV002305080]	Chr5:138887499 [GRCh38] Chr5:138223188 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2658T>G (p.Ser886=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428721]	Chr5:138934026 [GRCh38] Chr5:138269715 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2660A>C (p.Gln887Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428740]	Chr5:138934028 [GRCh38] Chr5:138269717 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.735C>T (p.Tyr245=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002380290]\|not provided [RCV003738220]	Chr5:138824676 [GRCh38] Chr5:138160365 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.162T>G (p.Arg54=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401266]\|not provided [RCV003097038]	Chr5:138783233 [GRCh38] Chr5:138118922 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1890G>T (p.Leu630=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002408024]\|not provided [RCV003097327]	Chr5:138925398 [GRCh38] Chr5:138261087 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.874G>A (p.Asp292Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373546]	Chr5:138827530 [GRCh38] Chr5:138163219 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1559T>G (p.Leu520Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405370]\|not provided [RCV003679113]	Chr5:138924522 [GRCh38] Chr5:138260211 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.227G>A (p.Gly76Glu)	single nucleotide variant	not provided [RCV002305386]	Chr5:138783298 [GRCh38] Chr5:138118987 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1671C>A (p.Thr557=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002395128]\|not provided [RCV003774451]	Chr5:138924634 [GRCh38] Chr5:138260323 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.697G>A (p.Asp233Asn)	single nucleotide variant	not provided [RCV002301835]	Chr5:138824638 [GRCh38] Chr5:138160327 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2004T>C (p.Ser668=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417241]\|not provided [RCV003546835]	Chr5:138929350 [GRCh38] Chr5:138265039 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.400G>A (p.Ala134Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357843]	Chr5:138810136 [GRCh38] Chr5:138145825 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1772T>A (p.Val591Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401847]	Chr5:138925280 [GRCh38] Chr5:138260969 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1646C>T (p.Ala549Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394982]	Chr5:138924609 [GRCh38] Chr5:138260298 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2466C>G (p.Ala822=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430752]\|not provided [RCV003101850]	Chr5:138933834 [GRCh38] Chr5:138269523 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2712C>G (p.Asp904Glu)	single nucleotide variant	not provided [RCV002295460]	Chr5:138934080 [GRCh38] Chr5:138269769 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2285C>G (p.Thr762Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002446151]\|not provided [RCV003546842]	Chr5:138930922 [GRCh38] Chr5:138266611 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1838A>G (p.Asp613Gly)	single nucleotide variant	not provided [RCV002295953]	Chr5:138925346 [GRCh38] Chr5:138261035 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2271C>T (p.Asp757=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443899]\|not provided [RCV003546841]	Chr5:138930908 [GRCh38] Chr5:138266597 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1567G>A (p.Val523Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405552]\|not provided [RCV003546826]	Chr5:138924530 [GRCh38] Chr5:138260219 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1412T>A (p.Leu471Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389547]\|not provided [RCV003546821]	Chr5:138917764 [GRCh38] Chr5:138253453 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.352T>G (p.Ser118Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459404]\|not provided [RCV003099545]	Chr5:138810088 [GRCh38] Chr5:138145777 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2229C>T (p.Ile743=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428180]	Chr5:138930866 [GRCh38] Chr5:138266555 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2301C>T (p.Cys767=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002446336]	Chr5:138932580 [GRCh38] Chr5:138268269 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.854T>C (p.Phe285Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447831]	Chr5:138824795 [GRCh38] Chr5:138160484 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1871A>T (p.Asp624Val)	single nucleotide variant	not provided [RCV002296323]	Chr5:138925379 [GRCh38] Chr5:138261068 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.857A>C (p.Asp286Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447890]	Chr5:138824798 [GRCh38] Chr5:138160487 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1144-1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459076]	Chr5:138887489 [GRCh38] Chr5:138223178 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2480A>C (p.Asn827Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443953]\|not provided [RCV003720629]	Chr5:138933848 [GRCh38] Chr5:138269537 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1126A>T (p.Arg376Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443991]\|not provided [RCV003738278]	Chr5:138886275 [GRCh38] Chr5:138221964 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.459G>C (p.Gln153His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375620]\|not provided [RCV002299704]	Chr5:138810195 [GRCh38] Chr5:138145884 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.917A>T (p.Glu306Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002378880]	Chr5:138827573 [GRCh38] Chr5:138163262 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1989G>A (p.Leu663=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423782]	Chr5:138929335 [GRCh38] Chr5:138265024 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1992A>T (p.Ile664=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423859]	Chr5:138929338 [GRCh38] Chr5:138265027 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1513A>G (p.Ile505Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392258]	Chr5:138917865 [GRCh38] Chr5:138253554 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1443A>G (p.Gln481=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394394]	Chr5:138917795 [GRCh38] Chr5:138253484 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-4G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447937]	Chr5:138827511 [GRCh38] Chr5:138163200 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2506T>A (p.Ser836Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002431145]	Chr5:138933874 [GRCh38] Chr5:138269563 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1734G>C (p.Leu578=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407441]\|not provided [RCV003565555]	Chr5:138924697 [GRCh38] Chr5:138260386 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.10G>A (p.Val4Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430930]\|not provided [RCV003101881]	Chr5:138781934 [GRCh38] Chr5:138117623 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.727C>G (p.Leu243Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382628]\|not provided [RCV003098524]	Chr5:138824668 [GRCh38] Chr5:138160357 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1498G>A (p.Asp500Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389843]\|not provided [RCV003100690]	Chr5:138917850 [GRCh38] Chr5:138253539 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.2510A>G (p.Tyr837Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432929]\|not provided [RCV003775279]	Chr5:138933878 [GRCh38] Chr5:138269567 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.753G>T (p.Ala251=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002393939]	Chr5:138824694 [GRCh38] Chr5:138160383 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.368A>C (p.Asn123Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002457454]	Chr5:138810104 [GRCh38] Chr5:138145793 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.955A>C (p.Met319Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002374299]	Chr5:138827611 [GRCh38] Chr5:138163300 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2327T>C (p.Leu776Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002448167]\|not provided [RCV003679129]	Chr5:138932606 [GRCh38] Chr5:138268295 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1305C>T (p.Asn435=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002380938]	Chr5:138904357 [GRCh38] Chr5:138240046 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.990T>C (p.Arg330=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382801]\|not provided [RCV003094894]	Chr5:138827646 [GRCh38] Chr5:138163335 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2331G>A (p.Leu777=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002457636]\|not provided [RCV003775191]	Chr5:138932610 [GRCh38] Chr5:138268299 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2607G>T (p.Leu869Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002426310]	Chr5:138933975 [GRCh38] Chr5:138269664 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.963C>G (p.Asp321Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376480]	Chr5:138827619 [GRCh38] Chr5:138163308 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1615G>A (p.Asp539Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400965]	Chr5:138924578 [GRCh38] Chr5:138260267 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1617C>T (p.Asp539=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400993]	Chr5:138924580 [GRCh38] Chr5:138260269 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.785C>G (p.Thr262Ser)	single nucleotide variant	not provided [RCV002302007]	Chr5:138824726 [GRCh38] Chr5:138160415 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1121A>G (p.Lys374Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002440081]\|not provided [RCV003102894]	Chr5:138886270 [GRCh38] Chr5:138221959 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.93T>C (p.Pro31=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373938]	Chr5:138782017 [GRCh38] Chr5:138117706 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2510A>C (p.Tyr837Ser)	single nucleotide variant	not provided [RCV002295961]	Chr5:138933878 [GRCh38] Chr5:138269567 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2718C>G (p.Ile906Met)	single nucleotide variant	not provided [RCV002296473]	Chr5:138934086 [GRCh38] Chr5:138269775 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2527T>C (p.Tyr843His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433098]	Chr5:138933895 [GRCh38] Chr5:138269584 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.907C>T (p.Pro303Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449969]	Chr5:138827563 [GRCh38] Chr5:138163252 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1289T>C (p.Leu430Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383261]	Chr5:138887635 [GRCh38] Chr5:138223324 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.164C>T (p.Ser55Phe)	single nucleotide variant	not provided [RCV002302030]	Chr5:138783235 [GRCh38] Chr5:138118924 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1981_1984delinsT (p.Asp661_Gln662delinsTer)	indel	Hereditary cancer-predisposing syndrome [RCV002423684]	Chr5:138929327..138929330 [GRCh38] Chr5:138265016..138265019 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2575T>C (p.Trp859Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002426041]	Chr5:138933943 [GRCh38] Chr5:138269632 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2231G>A (p.Ser744Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428253]\|Patterned macular dystrophy 2 [RCV003475380]	Chr5:138930868 [GRCh38] Chr5:138266557 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.153G>A (p.Lys51=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002403135]	Chr5:138783224 [GRCh38] Chr5:138118913 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1401T>C (p.Ala467=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389302]	Chr5:138917753 [GRCh38] Chr5:138253442 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1003G>A (p.Ala335Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392665]	Chr5:138827659 [GRCh38] Chr5:138163348 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2643G>A (p.Lys881=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428642]	Chr5:138934011 [GRCh38] Chr5:138269700 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1038C>G (p.Asp346Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394775]	Chr5:138827694 [GRCh38] Chr5:138163383 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.95_96del (p.Leu32fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002374148]	Chr5:138782019..138782020 [GRCh38] Chr5:138117708..138117709 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1517C>A (p.Thr506Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392334]	Chr5:138917869 [GRCh38] Chr5:138253558 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1678A>G (p.Met560Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405974]\|not provided [RCV003708677]	Chr5:138924641 [GRCh38] Chr5:138260330 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.330G>T (p.Glu110Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002326302]	Chr5:138810066 [GRCh38] Chr5:138145755 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2544T>G (p.Gly848=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433258]	Chr5:138933912 [GRCh38] Chr5:138269601 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1890GAT[1] (p.Met631del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV002408053]\|not provided [RCV003100920]	Chr5:138925397..138925399 [GRCh38] Chr5:138261086..138261088 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1342A>C (p.Lys448Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387734]	Chr5:138904394 [GRCh38] Chr5:138240083 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2085G>A (p.Lys695=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423944]\|not provided [RCV003098604]	Chr5:138930547 [GRCh38] Chr5:138266236 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.9T>A (p.Ala3=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383161]	Chr5:138781933 [GRCh38] Chr5:138117622 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.63G>C (p.Arg21Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002361568]\|not provided [RCV003565540]	Chr5:138781987 [GRCh38] Chr5:138117676 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.640C>G (p.Leu214Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002361611]	Chr5:138824581 [GRCh38] Chr5:138160270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1896A>G (p.Ile632Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002408105]	Chr5:138925404 [GRCh38] Chr5:138261093 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899+3_1899+6del	deletion	Hereditary cancer-predisposing syndrome [RCV002408166]	Chr5:138925408..138925411 [GRCh38] Chr5:138261097..138261100 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.208G>A (p.Glu70Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424026]	Chr5:138783279 [GRCh38] Chr5:138118968 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2417A>G (p.Glu806Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459757]	Chr5:138932696 [GRCh38] Chr5:138268385 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.154A>G (p.Arg52Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002403329]\|not provided [RCV003100716]	Chr5:138783225 [GRCh38] Chr5:138118914 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1686C>G (p.Asn562Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406091]	Chr5:138924649 [GRCh38] Chr5:138260338 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2555T>G (p.Leu852Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433337]	Chr5:138933923 [GRCh38] Chr5:138269612 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.486G>A (p.Leu162=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002340405]	Chr5:138812200 [GRCh38] Chr5:138147889 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1368G>A (p.Gln456=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383631]	Chr5:138904420 [GRCh38] Chr5:138240109 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1030C>T (p.Leu344=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383675]	Chr5:138827686 [GRCh38] Chr5:138163375 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1345C>T (p.Leu449Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387807]	Chr5:138904397 [GRCh38] Chr5:138240086 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.654T>C (p.Val218=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002364368]	Chr5:138824595 [GRCh38] Chr5:138160284 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1005A>C (p.Ala335=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407848]\|not provided [RCV003774505]	Chr5:138827661 [GRCh38] Chr5:138163350 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1338T>C (p.Gly446=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387641]	Chr5:138904390 [GRCh38] Chr5:138240079 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1344G>C (p.Lys448Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387782]	Chr5:138904396 [GRCh38] Chr5:138240085 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.226G>A (p.Gly76Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443867]	Chr5:138783297 [GRCh38] Chr5:138118986 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.380C>T (p.Ala127Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352976]\|not provided [RCV002300477]	Chr5:138810116 [GRCh38] Chr5:138145805 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.210G>A (p.Glu70=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424384]	Chr5:138783281 [GRCh38] Chr5:138118970 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1572C>G (p.Asn524Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392614]	Chr5:138924535 [GRCh38] Chr5:138260224 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1739C>T (p.Ser580Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002399294]	Chr5:138924702 [GRCh38] Chr5:138260391 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2459A>G (p.Gln820Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002455465]	Chr5:138933827 [GRCh38] Chr5:138269516 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2462C>T (p.Ala821Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002455491]	Chr5:138933830 [GRCh38] Chr5:138269519 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2682G>A (p.Val894=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428910]\|not provided [RCV003102107]	Chr5:138934050 [GRCh38] Chr5:138269739 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.390T>C (p.Ala130=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357514]	Chr5:138810126 [GRCh38] Chr5:138145815 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2547G>A (p.Met849Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433272]	Chr5:138933915 [GRCh38] Chr5:138269604 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2554_2555insGAC (p.Ser851_Leu852insArg)	insertion	Hereditary cancer-predisposing syndrome [RCV002455830]	Chr5:138933921..138933922 [GRCh38] Chr5:138269610..138269611 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2483C>T (p.Ala828Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430822]\|not provided [RCV003561035]	Chr5:138933851 [GRCh38] Chr5:138269540 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2553C>T (p.Ser851=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002433319]	Chr5:138933921 [GRCh38] Chr5:138269610 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1068A>G (p.Gly356=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002408331]\|not provided [RCV003100926]	Chr5:138886217 [GRCh38] Chr5:138221906 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1239G>A (p.Glu413=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370858]	Chr5:138887585 [GRCh38] Chr5:138223274 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1114A>G (p.Thr372Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002439654]	Chr5:138886263 [GRCh38] Chr5:138221952 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.880T>C (p.Leu294=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373737]\|not provided [RCV003708663]	Chr5:138827536 [GRCh38] Chr5:138163225 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.843A>G (p.Ala281=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445926]\|not provided [RCV003099944]	Chr5:138824784 [GRCh38] Chr5:138160473 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2273A>G (p.Lys758Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445962]	Chr5:138930910 [GRCh38] Chr5:138266599 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.441C>A (p.Val147=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002333873]	Chr5:138810177 [GRCh38] Chr5:138145866 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.661C>G (p.Leu221Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002364610]	Chr5:138824602 [GRCh38] Chr5:138160291 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.117T>C (p.Leu39=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330371]	Chr5:138783188 [GRCh38] Chr5:138118877 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1811A>G (p.Gln604Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410181]\|not provided [RCV003774515]	Chr5:138925319 [GRCh38] Chr5:138261008 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1970A>T (p.Gln657Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423478]	Chr5:138929316 [GRCh38] Chr5:138265005 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.816T>C (p.Gly272=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002427780]	Chr5:138824757 [GRCh38] Chr5:138160446 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2484T>A (p.Ala828=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430837]	Chr5:138933852 [GRCh38] Chr5:138269541 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1403C>T (p.Ala468Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389333]\|not provided [RCV003095098]	Chr5:138917755 [GRCh38] Chr5:138253444 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.617A>T (p.Gln206Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002353751]	Chr5:138824558 [GRCh38] Chr5:138160247 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.616C>G (p.Gln206Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002353695]	Chr5:138824557 [GRCh38] Chr5:138160246 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1654G>A (p.Val552Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002403709]\|not provided [RCV003689000]	Chr5:138924617 [GRCh38] Chr5:138260306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1815C>T (p.Pro605=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410248]	Chr5:138925323 [GRCh38] Chr5:138261012 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.727C>T (p.Leu243=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382631]	Chr5:138824668 [GRCh38] Chr5:138160357 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1471T>G (p.Trp491Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396948]	Chr5:138917823 [GRCh38] Chr5:138253512 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2484T>C (p.Ala828=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430840]	Chr5:138933852 [GRCh38] Chr5:138269541 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1690G>A (p.Glu564Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406157]	Chr5:138924653 [GRCh38] Chr5:138260342 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.455T>G (p.Val152Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002340197]	Chr5:138810191 [GRCh38] Chr5:138145880 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1876A>C (p.Arg626=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002415192]\|not provided [RCV003708682]	Chr5:138925384 [GRCh38] Chr5:138261073 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1438G>A (p.Ala480Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394305]	Chr5:138917790 [GRCh38] Chr5:138253479 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.147T>A (p.Asn49Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397120]\|not provided [RCV003774349]	Chr5:138783218 [GRCh38] Chr5:138118907 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1072A>G (p.Lys358Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423691]	Chr5:138886221 [GRCh38] Chr5:138221910 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1503T>C (p.Ala501=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389969]	Chr5:138917855 [GRCh38] Chr5:138253544 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.231T>C (p.Asp77=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002457561]	Chr5:138783302 [GRCh38] Chr5:138118991 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.774A>C (p.Ala258=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400805]	Chr5:138824715 [GRCh38] Chr5:138160404 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.897G>T (p.Glu299Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376254]	Chr5:138827553 [GRCh38] Chr5:138163242 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.606C>A (p.Gly202=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002358354]	Chr5:138824547 [GRCh38] Chr5:138160236 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1127G>C (p.Arg376Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002444256]	Chr5:138886276 [GRCh38] Chr5:138221965 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2322G>A (p.Gln774=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002448133]	Chr5:138932601 [GRCh38] Chr5:138268290 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1618C>A (p.Arg540Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401008]	Chr5:138924581 [GRCh38] Chr5:138260270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2091G>A (p.Lys697=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424052]	Chr5:138930553 [GRCh38] Chr5:138266242 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.222G>T (p.Glu74Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428232]	Chr5:138783293 [GRCh38] Chr5:138118982 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-5del	deletion	Hereditary cancer-predisposing syndrome [RCV002447940]	Chr5:138827510 [GRCh38] Chr5:138163199 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.537C>G (p.Ala179=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347103]	Chr5:138812251 [GRCh38] Chr5:138147940 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1862G>C (p.Gly621Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002414944]	Chr5:138925370 [GRCh38] Chr5:138261059 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.175C>G (p.His59Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401643]	Chr5:138783246 [GRCh38] Chr5:138118935 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.522A>C (p.Gly174=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002344303]\|not provided [RCV003698925]	Chr5:138812236 [GRCh38] Chr5:138147925 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2385G>A (p.Lys795=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002457940]\|not provided [RCV003775219]	Chr5:138932664 [GRCh38] Chr5:138268353 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2154G>C (p.Gln718His)	single nucleotide variant	not provided [RCV002300027]	Chr5:138930616 [GRCh38] Chr5:138266305 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2347A>G (p.Ile783Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002448338]\|not provided [RCV003720625]	Chr5:138932626 [GRCh38] Chr5:138268315 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2340G>T (p.Leu780=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428518]	Chr5:138932619 [GRCh38] Chr5:138268308 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2397G>A (p.Glu799=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002450213]\|not provided [RCV003101786]	Chr5:138932676 [GRCh38] Chr5:138268365 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1743C>A (p.Asn581Lys)	single nucleotide variant	not provided [RCV002302211]	Chr5:138924706 [GRCh38] Chr5:138260395 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1618C>G (p.Arg540Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394870]	Chr5:138924581 [GRCh38] Chr5:138260270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2667G>A (p.Lys889=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428775]	Chr5:138934035 [GRCh38] Chr5:138269724 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.247A>G (p.Ser83Gly)	single nucleotide variant	not provided [RCV002301123]	Chr5:138783318 [GRCh38] Chr5:138119007 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.176A>C (p.His59Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401787]\|not provided [RCV003565556]	Chr5:138783247 [GRCh38] Chr5:138118936 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1456C>A (p.Leu486Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394713]\|not provided [RCV003095190]	Chr5:138917808 [GRCh38] Chr5:138253497 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.980A>G (p.Asp327Gly)	single nucleotide variant	not provided [RCV002302216]	Chr5:138827636 [GRCh38] Chr5:138163325 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.56A>C (p.Glu19Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347540]\|not provided [RCV003103216]	Chr5:138781980 [GRCh38] Chr5:138117669 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.348C>T (p.Cys116=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459000]\|not provided [RCV003102380]	Chr5:138810084 [GRCh38] Chr5:138145773 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1212G>A (p.Leu404=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002356076]\|not provided [RCV003708651]	Chr5:138887558 [GRCh38] Chr5:138223247 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1775A>C (p.Glu592Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401872]	Chr5:138925283 [GRCh38] Chr5:138260972 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1842T>C (p.Ala614=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002412873]	Chr5:138925350 [GRCh38] Chr5:138261039 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.969C>T (p.Ser323=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376611]	Chr5:138827625 [GRCh38] Chr5:138163314 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2361C>T (p.Cys787=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002448544]	Chr5:138932640 [GRCh38] Chr5:138268329 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1583T>A (p.Ile528Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002398274]	Chr5:138924546 [GRCh38] Chr5:138260235 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2418G>A (p.Glu806=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002450378]\|not provided [RCV003775238]	Chr5:138932697 [GRCh38] Chr5:138268386 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.524T>C (p.Ile175Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002340946]	Chr5:138812238 [GRCh38] Chr5:138147927 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1830G>A (p.Glu610=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002412630]	Chr5:138925338 [GRCh38] Chr5:138261027 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.537C>A (p.Ala179=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347099]	Chr5:138812251 [GRCh38] Chr5:138147940 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1849C>A (p.Leu617Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002412976]	Chr5:138925357 [GRCh38] Chr5:138261046 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.707C>T (p.Ala236Val)	single nucleotide variant	not provided [RCV002294808]	Chr5:138824648 [GRCh38] Chr5:138160337 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.349T>C (p.Ser117Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459120]	Chr5:138810085 [GRCh38] Chr5:138145774 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2187T>C (p.Phe729=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425507]\|not provided [RCV003098699]	Chr5:138930649 [GRCh38] Chr5:138266338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002394905]\|Hereditary diffuse gastric adenocarcinoma [RCV003316869]\|not provided [RCV003561016]	Chr5:138924599 [GRCh38] Chr5:138260288 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2458C>T (p.Gln820Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002450550]\|not provided [RCV003101841]	Chr5:138933826 [GRCh38] Chr5:138269515 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1926C>T (p.Asp642=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410801]\|not provided [RCV003689006]	Chr5:138929272 [GRCh38] Chr5:138264961 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1839T>C (p.Asp613=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002412787]\|not provided [RCV003546831]	Chr5:138925347 [GRCh38] Chr5:138261036 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2288T>C (p.Ile763Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002446195]	Chr5:138930925 [GRCh38] Chr5:138266614 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1099G>A (p.Ala367Thr)	single nucleotide variant	not provided [RCV002296684]	Chr5:138886248 [GRCh38] Chr5:138221937 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.34A>G (p.Lys12Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459123]\|not provided [RCV003679094]	Chr5:138781958 [GRCh38] Chr5:138117647 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2565T>C (p.Pro855=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002425958]\|not provided [RCV003101977]	Chr5:138933933 [GRCh38] Chr5:138269622 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.465A>C (p.Lys155Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002335094]\|not provided [RCV003718503]	Chr5:138810201 [GRCh38] Chr5:138145890 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1580T>C (p.Val527Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405805]\|not provided [RCV003542367]	Chr5:138924543 [GRCh38] Chr5:138260232 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2176A>C (p.Met726Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432816]	Chr5:138930638 [GRCh38] Chr5:138266327 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1269C>G (p.Phe423Leu)	single nucleotide variant	not provided [RCV002294882]	Chr5:138887615 [GRCh38] Chr5:138223304 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2057A>T (p.Glu686Val)	single nucleotide variant	not provided [RCV002294887]	Chr5:138930519 [GRCh38] Chr5:138266208 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2286C>T (p.Thr762=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002446159]	Chr5:138930923 [GRCh38] Chr5:138266612 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.37T>C (p.Trp13Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363962]\|not provided [RCV003094370]	Chr5:138781961 [GRCh38] Chr5:138117650 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1265T>C (p.Val422Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449602]\|not provided [RCV003718564]	Chr5:138887611 [GRCh38] Chr5:138223300 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.864A>C (p.Gln288His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449624]\|not provided [RCV003103521]	Chr5:138827520 [GRCh38] Chr5:138163209 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.608A>T (p.His203Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002360040]	Chr5:138824549 [GRCh38] Chr5:138160238 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469G>A (p.Val157Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330575]	Chr5:138812183 [GRCh38] Chr5:138147872 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1932G>A (p.Glu644=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410942]\|not provided [RCV003698954]	Chr5:138929278 [GRCh38] Chr5:138264967 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2592A>G (p.Pro864=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002426150]	Chr5:138933960 [GRCh38] Chr5:138269649 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.205A>G (p.Thr69Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421931]\|not provided [RCV003098586]	Chr5:138783276 [GRCh38] Chr5:138118965 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1230T>C (p.Asn410=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002369496]	Chr5:138887576 [GRCh38] Chr5:138223265 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002421960]\|Hereditary diffuse gastric adenocarcinoma [RCV003454320]	Chr5:138827662 [GRCh38] Chr5:138163351 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1843T>C (p.Ser615Pro)	single nucleotide variant	not provided [RCV002302283]	Chr5:138925351 [GRCh38] Chr5:138261040 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1853dup (p.Tyr619fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002413060]	Chr5:138925360..138925361 [GRCh38] Chr5:138261049..138261050 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2521A>C (p.Thr841Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002455679]	Chr5:138933889 [GRCh38] Chr5:138269578 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2430T>C (p.Ser810=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002459889]	Chr5:138932709 [GRCh38] Chr5:138268398 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.781del (p.Ala261fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002409986]	Chr5:138824721 [GRCh38] Chr5:138160410 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1348G>C (p.Val450Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387878]	Chr5:138904400 [GRCh38] Chr5:138240089 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1348G>A (p.Val450Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387872]	Chr5:138904400 [GRCh38] Chr5:138240089 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1518T>C (p.Thr506=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392366]	Chr5:138917870 [GRCh38] Chr5:138253559 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.151A>G (p.Lys51Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392387]	Chr5:138783222 [GRCh38] Chr5:138118911 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1684A>G (p.Asn562Asp)	single nucleotide variant	not provided [RCV002300354]	Chr5:138924647 [GRCh38] Chr5:138260336 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.772_773delinsAA (p.Ala258Lys)	indel	Hereditary cancer-predisposing syndrome [RCV002400691]\|not provided [RCV003688983]	Chr5:138824713..138824714 [GRCh38] Chr5:138160402..138160403 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1948G>A (p.Val650Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413287]	Chr5:138929294 [GRCh38] Chr5:138264983 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1809C>T (p.Ala603=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410118]\|not provided [RCV003698951]	Chr5:138925317 [GRCh38] Chr5:138261006 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1812G>A (p.Gln604=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002410202]\|not provided [RCV003097267]	Chr5:138925320 [GRCh38] Chr5:138261009 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.457C>G (p.Gln153Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002342185]\|not provided [RCV003775920]	Chr5:138810193 [GRCh38] Chr5:138145882 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1308G>T (p.Leu436Phe)	single nucleotide variant	not provided [RCV002298070]	Chr5:138904360 [GRCh38] Chr5:138240049 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.378G>A (p.Arg126=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002353065]	Chr5:138810114 [GRCh38] Chr5:138145803 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.994C>T (p.Arg332Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382912]\|not provided [RCV003738234]	Chr5:138827650 [GRCh38] Chr5:138163339 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.773C>A (p.Ala258Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400760]	Chr5:138824714 [GRCh38] Chr5:138160403 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1380C>G (p.Leu460=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381152]	Chr5:138904432 [GRCh38] Chr5:138240121 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.723G>A (p.Arg241=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002371051]	Chr5:138824664 [GRCh38] Chr5:138160353 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1160T>C (p.Met387Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357727]	Chr5:138887506 [GRCh38] Chr5:138223195 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1390-2A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002396667]	Chr5:138917740 [GRCh38] Chr5:138253429 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1381T>C (p.Cys461Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381184]	Chr5:138904433 [GRCh38] Chr5:138240122 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.884G>A (p.Ser295Asn)	single nucleotide variant	not provided [RCV002837708]	Chr5:138827540 [GRCh38] Chr5:138163229 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1842T>A (p.Ala614=)	single nucleotide variant	not provided [RCV002862832]	Chr5:138925350 [GRCh38] Chr5:138261039 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2416G>T (p.Glu806Ter)	single nucleotide variant	not provided [RCV002862068]	Chr5:138932695 [GRCh38] Chr5:138268384 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+10C>A	single nucleotide variant	not provided [RCV003012336]	Chr5:138810214 [GRCh38] Chr5:138145903 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.639C>T (p.Ile213=)	single nucleotide variant	not provided [RCV002838057]	Chr5:138824580 [GRCh38] Chr5:138160269 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.112A>G (p.Thr38Ala)	single nucleotide variant	not provided [RCV002838909]	Chr5:138783183 [GRCh38] Chr5:138118872 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2119G>A (p.Asp707Asn)	single nucleotide variant	not provided [RCV002838012]	Chr5:138930581 [GRCh38] Chr5:138266270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2268G>A (p.Met756Ile)	single nucleotide variant	not provided [RCV002686038]	Chr5:138930905 [GRCh38] Chr5:138266594 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1571del (p.Asn524fs)	deletion	not provided [RCV002862073]	Chr5:138924533 [GRCh38] Chr5:138260222 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2350G>A (p.Ala784Thr)	single nucleotide variant	not provided [RCV002727247]	Chr5:138932629 [GRCh38] Chr5:138268318 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1220C>G (p.Ala407Gly)	single nucleotide variant	not provided [RCV003017641]	Chr5:138887566 [GRCh38] Chr5:138223255 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2621A>C (p.Lys874Thr)	single nucleotide variant	not provided [RCV002861554]	Chr5:138933989 [GRCh38] Chr5:138269678 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2519_2541dup (p.Gly848fs)	duplication	not provided [RCV002816364]	Chr5:138933886..138933887 [GRCh38] Chr5:138269575..138269576 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.869T>C (p.Ile290Thr)	single nucleotide variant	not provided [RCV002947936]	Chr5:138827525 [GRCh38] Chr5:138163214 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-9A>C	single nucleotide variant	not provided [RCV002858415]	Chr5:138812174 [GRCh38] Chr5:138147863 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1710_1711del (p.Lys571fs)	microsatellite	not provided [RCV002818972]	Chr5:138924670..138924671 [GRCh38] Chr5:138260359..138260360 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1070G>C (p.Arg357Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308303]\|not provided [RCV002843882]	Chr5:138886219 [GRCh38] Chr5:138221908 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2541G>A (p.Gln847=)	single nucleotide variant	not provided [RCV002616467]	Chr5:138933909 [GRCh38] Chr5:138269598 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2572del (p.Ser858fs)	deletion	not provided [RCV002881326]	Chr5:138933940 [GRCh38] Chr5:138269629 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1885G>A (p.Val629Met)	single nucleotide variant	not provided [RCV003035174]	Chr5:138925393 [GRCh38] Chr5:138261082 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2615G>A (p.Arg872Lys)	single nucleotide variant	not provided [RCV002685476]	Chr5:138933983 [GRCh38] Chr5:138269672 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2282G>A (p.Arg761His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308327]\|not provided [RCV002903702]	Chr5:138930919 [GRCh38] Chr5:138266608 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1900A>G (p.Thr634Ala)	single nucleotide variant	not provided [RCV002727165]	Chr5:138929246 [GRCh38] Chr5:138264935 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-11T>G	single nucleotide variant	not provided [RCV002996510]	Chr5:138925245 [GRCh38] Chr5:138260934 [GRCh37] Chr5:5q31.2	likely benign
NM_015564.3(LRRTM2):c.1412C>T (p.Thr471Ile)	single nucleotide variant	Inborn genetic diseases [RCV002997758]	Chr5:138873149 [GRCh38] Chr5:138208838 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.966G>C (p.Ser322=)	single nucleotide variant	not provided [RCV002842546]	Chr5:138827622 [GRCh38] Chr5:138163311 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.465A>G (p.Lys155=)	single nucleotide variant	not provided [RCV002995518]	Chr5:138810201 [GRCh38] Chr5:138145890 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-15A>C	single nucleotide variant	not provided [RCV002995268]	Chr5:138827500 [GRCh38] Chr5:138163189 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1056G>T (p.Met352Ile)	single nucleotide variant	not provided [RCV002816619]	Chr5:138827712 [GRCh38] Chr5:138163401 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1143+15A>G	single nucleotide variant	not provided [RCV002994626]	Chr5:138886307 [GRCh38] Chr5:138221996 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.245A>G (p.Glu82Gly)	single nucleotide variant	not provided [RCV003013537]	Chr5:138783316 [GRCh38] Chr5:138119005 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1833dup (p.Ile612fs)	duplication	not provided [RCV002815873]	Chr5:138925338..138925339 [GRCh38] Chr5:138261027..138261028 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.584A>G (p.Gln195Arg)	single nucleotide variant	not provided [RCV002815888]	Chr5:138812298 [GRCh38] Chr5:138147987 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1985A>G (p.Gln662Arg)	single nucleotide variant	not provided [RCV002993810]	Chr5:138929331 [GRCh38] Chr5:138265020 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.574G>A (p.Ala192Thr)	single nucleotide variant	not provided [RCV003016095]	Chr5:138812288 [GRCh38] Chr5:138147977 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1074A>G (p.Lys358=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003167827]\|not provided [RCV002839406]	Chr5:138886223 [GRCh38] Chr5:138221912 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.340G>A (p.Asp114Asn)	single nucleotide variant	not provided [RCV002837954]	Chr5:138810076 [GRCh38] Chr5:138145765 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+14C>T	single nucleotide variant	not provided [RCV002972080]	Chr5:138924724 [GRCh38] Chr5:138260413 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1230_1238dup (p.Asn412_Glu413insAspGlyAsn)	duplication	not provided [RCV003014254]	Chr5:138887574..138887575 [GRCh38] Chr5:138223263..138223264 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2691C>T (p.Leu897=)	single nucleotide variant	not provided [RCV002618597]	Chr5:138934059 [GRCh38] Chr5:138269748 [GRCh37] Chr5:5q31.2	likely benign
GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3	copy number gain	not provided [RCV002475593]	Chr5:137893096..138868605 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1829A>G (p.Glu610Gly)	single nucleotide variant	not provided [RCV003033923]	Chr5:138925337 [GRCh38] Chr5:138261026 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1792C>A (p.Leu598Ile)	single nucleotide variant	not provided [RCV002838869]	Chr5:138925300 [GRCh38] Chr5:138260989 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.648G>T (p.Lys216Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308294]\|not provided [RCV002819677]	Chr5:138824589 [GRCh38] Chr5:138160278 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.589-13T>G	single nucleotide variant	not provided [RCV002842301]	Chr5:138824517 [GRCh38] Chr5:138160206 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2403G>C (p.Gln801His)	single nucleotide variant	not provided [RCV002947169]	Chr5:138932682 [GRCh38] Chr5:138268371 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1143+13A>G	single nucleotide variant	not provided [RCV003075977]	Chr5:138886305 [GRCh38] Chr5:138221994 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.101C>A (p.Thr34Lys)	single nucleotide variant	not provided [RCV002997039]	Chr5:138782025 [GRCh38] Chr5:138117714 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.46A>G (p.Lys16Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003167909]\|not provided [RCV002908536]	Chr5:138781970 [GRCh38] Chr5:138117659 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1764T>C (p.Thr588=)	single nucleotide variant	not provided [RCV002636503]	Chr5:138925272 [GRCh38] Chr5:138260961 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1327A>G (p.Asn443Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308240]\|not provided [RCV002735240]	Chr5:138904379 [GRCh38] Chr5:138240068 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-17T>G	single nucleotide variant	not provided [RCV002662406]	Chr5:138812166 [GRCh38] Chr5:138147855 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-3C>T	single nucleotide variant	not provided [RCV003018187]	Chr5:138932575 [GRCh38] Chr5:138268264 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2434-24_2434-5del	deletion	not provided [RCV002866599]	Chr5:138933776..138933795 [GRCh38] Chr5:138269465..138269484 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1621A>G (p.Thr541Ala)	single nucleotide variant	not provided [RCV003055063]	Chr5:138924584 [GRCh38] Chr5:138260273 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1547-22_1547-10del	deletion	not provided [RCV002871324]	Chr5:138924486..138924498 [GRCh38] Chr5:138260175..138260187 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1999C>T (p.Gln667Ter)	single nucleotide variant	not provided [RCV002848043]	Chr5:138929345 [GRCh38] Chr5:138265034 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1297-7T>G	single nucleotide variant	not provided [RCV002913896]	Chr5:138904342 [GRCh38] Chr5:138240031 [GRCh37] Chr5:5q31.2	uncertain significance
NM_015564.3(LRRTM2):c.541C>T (p.Arg181Cys)	single nucleotide variant	Inborn genetic diseases [RCV002737196]	Chr5:138874020 [GRCh38] Chr5:138209709 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-18T>C	single nucleotide variant	not provided [RCV003039530]	Chr5:138783159 [GRCh38] Chr5:138118848 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1841C>T (p.Ala614Val)	single nucleotide variant	not provided [RCV002999472]	Chr5:138925349 [GRCh38] Chr5:138261038 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.906G>A (p.Arg302=)	single nucleotide variant	not provided [RCV002662844]	Chr5:138827562 [GRCh38] Chr5:138163251 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-16A>T	single nucleotide variant	not provided [RCV003036167]	Chr5:138827499 [GRCh38] Chr5:138163188 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2621_2624dup (p.Asp876fs)	duplication	not provided [RCV002690773]	Chr5:138933987..138933988 [GRCh38] Chr5:138269676..138269677 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.732dup (p.Tyr245fs)	duplication	not provided [RCV002847724]	Chr5:138824672..138824673 [GRCh38] Chr5:138160361..138160362 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1771G>C (p.Val591Leu)	single nucleotide variant	not provided [RCV003037615]	Chr5:138925279 [GRCh38] Chr5:138260968 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.85T>C (p.Leu29=)	single nucleotide variant	not provided [RCV002885059]	Chr5:138782009 [GRCh38] Chr5:138117698 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.372G>A (p.Met124Ile)	single nucleotide variant	not provided [RCV003020452]	Chr5:138810108 [GRCh38] Chr5:138145797 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2181A>C (p.Thr727=)	single nucleotide variant	not provided [RCV003036488]	Chr5:138930643 [GRCh38] Chr5:138266332 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1815C>G (p.Pro605=)	single nucleotide variant	not provided [RCV003020587]	Chr5:138925323 [GRCh38] Chr5:138261012 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-20G>C	single nucleotide variant	not provided [RCV003018912]	Chr5:138812163 [GRCh38] Chr5:138147852 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.389C>G (p.Ala130Gly)	single nucleotide variant	not provided [RCV003077714]	Chr5:138810125 [GRCh38] Chr5:138145814 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1546+18C>T	single nucleotide variant	not provided [RCV002797034]	Chr5:138917916 [GRCh38] Chr5:138253605 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.375T>G (p.Val125=)	single nucleotide variant	not provided [RCV002797055]	Chr5:138810111 [GRCh38] Chr5:138145800 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-19C>A	single nucleotide variant	not provided [RCV002948363]	Chr5:138886193 [GRCh38] Chr5:138221882 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1224A>G (p.Ala408=)	single nucleotide variant	not provided [RCV002621254]	Chr5:138887570 [GRCh38] Chr5:138223259 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.550G>A (p.Val184Met)	single nucleotide variant	not provided [RCV002912923]	Chr5:138812264 [GRCh38] Chr5:138147953 [GRCh37] Chr5:5q31.2	uncertain significance
NM_015564.3(LRRTM2):c.254G>C (p.Ser85Thr)	single nucleotide variant	Inborn genetic diseases [RCV002660409]	Chr5:138874307 [GRCh38] Chr5:138209996 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.932G>C (p.Ser311Thr)	single nucleotide variant	not provided [RCV002796593]	Chr5:138827588 [GRCh38] Chr5:138163277 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1062+4A>G	single nucleotide variant	Patterned macular dystrophy 2 [RCV003475404]\|not provided [RCV002621793]	Chr5:138827722 [GRCh38] Chr5:138163411 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2214T>C (p.Asn738=)	single nucleotide variant	not provided [RCV002866431]	Chr5:138930851 [GRCh38] Chr5:138266540 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+9C>T	single nucleotide variant	not provided [RCV002846568]	Chr5:138930663 [GRCh38] Chr5:138266352 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1304A>C (p.Asn435Thr)	single nucleotide variant	not provided [RCV003020012]	Chr5:138904356 [GRCh38] Chr5:138240045 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+19G>A	single nucleotide variant	not provided [RCV002998946]	Chr5:138810223 [GRCh38] Chr5:138145912 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-11T>G	single nucleotide variant	not provided [RCV002846386]	Chr5:138827504 [GRCh38] Chr5:138163193 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.583C>T (p.Gln195Ter)	single nucleotide variant	not provided [RCV002867956]	Chr5:138812297 [GRCh38] Chr5:138147986 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2542G>A (p.Gly848Ser)	single nucleotide variant	not provided [RCV003035345]	Chr5:138933910 [GRCh38] Chr5:138269599 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2192+10_2192+69del	deletion	not provided [RCV002868002]	Chr5:138930659..138930718 [GRCh38] Chr5:138266348..138266407 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2582T>G (p.Met861Arg)	single nucleotide variant	not provided [RCV002797229]	Chr5:138933950 [GRCh38] Chr5:138269639 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899+10T>C	single nucleotide variant	not provided [RCV002820978]	Chr5:138925417 [GRCh38] Chr5:138261106 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+16T>C	single nucleotide variant	not provided [RCV003021314]	Chr5:138783388 [GRCh38] Chr5:138119077 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1800G>C (p.Ser600=)	single nucleotide variant	not provided [RCV002824861]	Chr5:138925308 [GRCh38] Chr5:138260997 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-13T>C	single nucleotide variant	not provided [RCV003018091]	Chr5:138824517 [GRCh38] Chr5:138160206 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-12T>G	single nucleotide variant	not provided [RCV002884953]	Chr5:138929234 [GRCh38] Chr5:138264923 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.468+8T>C	single nucleotide variant	not provided [RCV002820181]	Chr5:138810212 [GRCh38] Chr5:138145901 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.402T>G (p.Ala134=)	single nucleotide variant	not provided [RCV002824436]	Chr5:138810138 [GRCh38] Chr5:138145827 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.102A>G (p.Thr34=)	single nucleotide variant	not provided [RCV003017792]	Chr5:138782026 [GRCh38] Chr5:138117715 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-1G>A	single nucleotide variant	not provided [RCV003055162]	Chr5:138886211 [GRCh38] Chr5:138221900 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.301+12C>G	single nucleotide variant	not provided [RCV002885852]	Chr5:138783384 [GRCh38] Chr5:138119073 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.118_119delinsTG (p.Val40Ter)	indel	not provided [RCV002802215]	Chr5:138783189..138783190 [GRCh38] Chr5:138118878..138118879 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2617_2620del (p.Glu873fs)	microsatellite	not provided [RCV002829342]	Chr5:138933980..138933983 [GRCh38] Chr5:138269669..138269672 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.994C>G (p.Arg332Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308414]\|not provided [RCV003007596]	Chr5:138827650 [GRCh38] Chr5:138163339 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.767C>T (p.Ser256Phe)	single nucleotide variant	not provided [RCV003022929]	Chr5:138824708 [GRCh38] Chr5:138160397 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858+10G>C	single nucleotide variant	not provided [RCV002876259]	Chr5:138824809 [GRCh38] Chr5:138160498 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1222G>T (p.Ala408Ser)	single nucleotide variant	not provided [RCV003025646]	Chr5:138887568 [GRCh38] Chr5:138223257 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.301+1G>A	single nucleotide variant	not provided [RCV002801441]	Chr5:138783373 [GRCh38] Chr5:138119062 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2007C>A (p.Ala669=)	single nucleotide variant	not provided [RCV002894084]	Chr5:138929353 [GRCh38] Chr5:138265042 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2042A>G (p.Lys681Arg)	single nucleotide variant	not provided [RCV003005396]	Chr5:138930504 [GRCh38] Chr5:138266193 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.504C>G (p.Gly168=)	single nucleotide variant	not provided [RCV003083781]	Chr5:138812218 [GRCh38] Chr5:138147907 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-3T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003377847]\|not provided [RCV003059722]	Chr5:138904346 [GRCh38] Chr5:138240035 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1144-15C>G	single nucleotide variant	not provided [RCV002918082]	Chr5:138887475 [GRCh38] Chr5:138223164 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.928G>A (p.Glu310Lys)	single nucleotide variant	not provided [RCV002825698]	Chr5:138827584 [GRCh38] Chr5:138163273 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2621A>G (p.Lys874Arg)	single nucleotide variant	not provided [RCV002829138]	Chr5:138933989 [GRCh38] Chr5:138269678 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-15_583dup	duplication	not provided [RCV002851735]	Chr5:138812166..138812167 [GRCh38] Chr5:138147855..138147856 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858C>A (p.Asp286Glu)	single nucleotide variant	not provided [RCV003085725]	Chr5:138824799 [GRCh38] Chr5:138160488 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-2A>G	single nucleotide variant	not provided [RCV003042855]	Chr5:138933800 [GRCh38] Chr5:138269489 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1547-13G>A	single nucleotide variant	not provided [RCV002852290]	Chr5:138924497 [GRCh38] Chr5:138260186 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1728T>G (p.Thr576=)	single nucleotide variant	not provided [RCV002711415]	Chr5:138924691 [GRCh38] Chr5:138260380 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.345del (p.Cys116fs)	deletion	not provided [RCV002914815]	Chr5:138810079 [GRCh38] Chr5:138145768 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2415G>A (p.Gly805=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170873]\|not provided [RCV003006203]	Chr5:138932694 [GRCh38] Chr5:138268383 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.36G>C (p.Lys12Asn)	single nucleotide variant	not provided [RCV003040072]	Chr5:138781960 [GRCh38] Chr5:138117649 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.859-9del	deletion	not provided [RCV003023288]	Chr5:138827504 [GRCh38] Chr5:138163193 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.268C>T (p.Leu90Phe)	single nucleotide variant	not provided [RCV003041579]	Chr5:138783339 [GRCh38] Chr5:138119028 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1810C>T (p.Gln604Ter)	single nucleotide variant	not provided [RCV002917966]	Chr5:138925318 [GRCh38] Chr5:138261007 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.149dup (p.Lys51fs)	duplication	not provided [RCV003039876]	Chr5:138783218..138783219 [GRCh38] Chr5:138118907..138118908 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.876C>A (p.Asp292Glu)	single nucleotide variant	not provided [RCV003056262]	Chr5:138827532 [GRCh38] Chr5:138163221 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+22dup	duplication	not provided [RCV003057184]	Chr5:138932729..138932730 [GRCh38] Chr5:138268418..138268419 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.661C>T (p.Leu221Phe)	single nucleotide variant	not provided [RCV002917259]	Chr5:138824602 [GRCh38] Chr5:138160291 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1442A>G (p.Gln481Arg)	single nucleotide variant	not provided [RCV003058094]	Chr5:138917794 [GRCh38] Chr5:138253483 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.383C>T (p.Ala128Val)	single nucleotide variant	not provided [RCV003057944]	Chr5:138810119 [GRCh38] Chr5:138145808 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2716_*6dup (p.Ile906_Ter(907_?)(?))	duplication	not provided [RCV002711199]	Chr5:138934081..138934082 [GRCh38] Chr5:138269770..138269771 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.589-16T>C	single nucleotide variant	not provided [RCV002625671]	Chr5:138824514 [GRCh38] Chr5:138160203 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1747+19T>C	single nucleotide variant	not provided [RCV002663769]	Chr5:138924729 [GRCh38] Chr5:138260418 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-9T>C	single nucleotide variant	not provided [RCV003058384]	Chr5:138932569 [GRCh38] Chr5:138268258 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2309C>G (p.Ser770Trp)	single nucleotide variant	not provided [RCV002801741]	Chr5:138932588 [GRCh38] Chr5:138268277 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.146A>G (p.Asn49Ser)	single nucleotide variant	not provided [RCV003040064]	Chr5:138783217 [GRCh38] Chr5:138118906 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+19A>G	single nucleotide variant	not provided [RCV002710758]	Chr5:138930954 [GRCh38] Chr5:138266643 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+6del	deletion	not provided [RCV003023355]	Chr5:138917904 [GRCh38] Chr5:138253593 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1064C>G (p.Ala355Gly)	single nucleotide variant	not provided [RCV003058019]	Chr5:138886213 [GRCh38] Chr5:138221902 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+11G>C	single nucleotide variant	not provided [RCV002894702]	Chr5:138930946 [GRCh38] Chr5:138266635 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.801C>G (p.Ala267=)	single nucleotide variant	not provided [RCV002710136]	Chr5:138824742 [GRCh38] Chr5:138160431 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1404A>C (p.Ala468=)	single nucleotide variant	not provided [RCV002875526]	Chr5:138917756 [GRCh38] Chr5:138253445 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2188A>G (p.Thr730Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308333]\|not provided [RCV002918215]	Chr5:138930650 [GRCh38] Chr5:138266339 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.302-2_302-1del	deletion	not provided [RCV002876393]	Chr5:138810036..138810037 [GRCh38] Chr5:138145725..138145726 [GRCh37] Chr5:5q31.2	likely pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2644A>G (p.Ile882Val)	single nucleotide variant	not provided [RCV002932995]	Chr5:138934012 [GRCh38] Chr5:138269701 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+17C>A	single nucleotide variant	not provided [RCV002667214]	Chr5:138930952 [GRCh38] Chr5:138266641 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.399T>C (p.Ser133=)	single nucleotide variant	not provided [RCV002741791]	Chr5:138810135 [GRCh38] Chr5:138145824 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1591C>G (p.Gln531Glu)	single nucleotide variant	not provided [RCV003059227]	Chr5:138924554 [GRCh38] Chr5:138260243 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+12C>G	single nucleotide variant	not provided [RCV002828608]	Chr5:138932724 [GRCh38] Chr5:138268413 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1761T>C (p.Phe587=)	single nucleotide variant	not provided [RCV002624456]	Chr5:138925269 [GRCh38] Chr5:138260958 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2543G>T (p.Gly848Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003167902]\|not provided [RCV002917642]	Chr5:138933911 [GRCh38] Chr5:138269600 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.299A>G (p.Gln100Arg)	single nucleotide variant	not provided [RCV002933002]	Chr5:138783370 [GRCh38] Chr5:138119059 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1744A>C (p.Thr582Pro)	single nucleotide variant	not provided [RCV002594615]	Chr5:138924707 [GRCh38] Chr5:138260396 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.860_861del (p.Lys287fs)	deletion	not provided [RCV002850935]	Chr5:138827515..138827516 [GRCh38] Chr5:138163204..138163205 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2627dup (p.Asp876fs)	duplication	not provided [RCV002894088]	Chr5:138933994..138933995 [GRCh38] Chr5:138269683..138269684 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2617_2620dup (p.Lys874fs)	microsatellite	not provided [RCV003005400]	Chr5:138933979..138933980 [GRCh38] Chr5:138269668..138269669 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.756C>G (p.Val252=)	single nucleotide variant	not provided [RCV003024845]	Chr5:138824697 [GRCh38] Chr5:138160386 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1891A>G (p.Met631Val)	single nucleotide variant	not provided [RCV002917875]	Chr5:138925399 [GRCh38] Chr5:138261088 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1900-7G>C	single nucleotide variant	not provided [RCV002801460]	Chr5:138929239 [GRCh38] Chr5:138264928 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+7T>C	single nucleotide variant	not provided [RCV002574375]	Chr5:138904448 [GRCh38] Chr5:138240137 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1208T>C (p.Val403Ala)	single nucleotide variant	not provided [RCV002890945]	Chr5:138887554 [GRCh38] Chr5:138223243 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1550A>G (p.Asn517Ser)	single nucleotide variant	not provided [RCV002596428]	Chr5:138924513 [GRCh38] Chr5:138260202 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1296+17T>C	single nucleotide variant	not provided [RCV003084419]	Chr5:138887659 [GRCh38] Chr5:138223348 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1510G>T (p.Asp504Tyr)	single nucleotide variant	not provided [RCV002851750]	Chr5:138917862 [GRCh38] Chr5:138253551 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1113G>A (p.Met371Ile)	single nucleotide variant	not provided [RCV002721099]	Chr5:138886262 [GRCh38] Chr5:138221951 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2394_2401del (p.Val800fs)	deletion	not provided [RCV003049059]	Chr5:138932671..138932678 [GRCh38] Chr5:138268360..138268367 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1238A>G (p.Glu413Gly)	single nucleotide variant	not provided [RCV002967401]	Chr5:138887584 [GRCh38] Chr5:138223273 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1477A>G (p.Lys493Glu)	single nucleotide variant	not provided [RCV002938485]	Chr5:138917829 [GRCh38] Chr5:138253518 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1546+18dup	duplication	not provided [RCV003045825]	Chr5:138917912..138917913 [GRCh38] Chr5:138253601..138253602 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.968C>T (p.Ser323Phe)	single nucleotide variant	not provided [RCV003047476]	Chr5:138827624 [GRCh38] Chr5:138163313 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1933A>G (p.Thr645Ala)	single nucleotide variant	not provided [RCV003066049]	Chr5:138929279 [GRCh38] Chr5:138264968 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1899+13A>G	single nucleotide variant	not provided [RCV003092007]	Chr5:138925420 [GRCh38] Chr5:138261109 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1389+18C>A	single nucleotide variant	not provided [RCV003029476]	Chr5:138904459 [GRCh38] Chr5:138240148 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.515A>G (p.Asp172Gly)	single nucleotide variant	not provided [RCV003031410]	Chr5:138812229 [GRCh38] Chr5:138147918 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1901C>A (p.Thr634Asn)	single nucleotide variant	not provided [RCV002650343]	Chr5:138929247 [GRCh38] Chr5:138264936 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.702C>G (p.Val234=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003377907]\|not provided [RCV002628899]	Chr5:138824643 [GRCh38] Chr5:138160332 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1899+19G>A	single nucleotide variant	not provided [RCV003060814]	Chr5:138925426 [GRCh38] Chr5:138261115 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.353C>T (p.Ser118Phe)	single nucleotide variant	not provided [RCV003009572]	Chr5:138810089 [GRCh38] Chr5:138145778 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.384T>A (p.Ala128=)	single nucleotide variant	not provided [RCV002806703]	Chr5:138810120 [GRCh38] Chr5:138145809 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1256A>G (p.Tyr419Cys)	single nucleotide variant	not provided [RCV002791794]	Chr5:138887602 [GRCh38] Chr5:138223291 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.112A>T (p.Thr38Ser)	single nucleotide variant	not provided [RCV002933688]	Chr5:138783183 [GRCh38] Chr5:138118872 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.589G>A (p.Glu197Lys)	single nucleotide variant	not provided [RCV003046837]	Chr5:138824530 [GRCh38] Chr5:138160219 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.589-16T>G	single nucleotide variant	not provided [RCV003062994]	Chr5:138824514 [GRCh38] Chr5:138160203 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1417G>A (p.Ala473Thr)	single nucleotide variant	not provided [RCV002922833]	Chr5:138917769 [GRCh38] Chr5:138253458 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2109C>T (p.Ser703=)	single nucleotide variant	not provided [RCV003046048]	Chr5:138930571 [GRCh38] Chr5:138266260 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+4A>T	single nucleotide variant	not provided [RCV002856146]	Chr5:138917902 [GRCh38] Chr5:138253591 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858+13_858+15del	deletion	not provided [RCV002716887]	Chr5:138824812..138824814 [GRCh38] Chr5:138160501..138160503 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+16G>C	single nucleotide variant	not provided [RCV003011519]	Chr5:138930951 [GRCh38] Chr5:138266640 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.493A>G (p.Arg165Gly)	single nucleotide variant	not provided [RCV003044864]	Chr5:138812207 [GRCh38] Chr5:138147896 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.971G>A (p.Cys324Tyr)	single nucleotide variant	not provided [RCV002811823]	Chr5:138827627 [GRCh38] Chr5:138163316 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+14T>C	single nucleotide variant	not provided [RCV003043840]	Chr5:138812316 [GRCh38] Chr5:138148005 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.537_538delinsAG (p.Leu180Val)	indel	Hereditary cancer-predisposing syndrome [RCV003167798]\|not provided [RCV002807285]	Chr5:138812251..138812252 [GRCh38] Chr5:138147940..138147941 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1533C>A (p.Phe511Leu)	single nucleotide variant	not provided [RCV002938125]	Chr5:138917885 [GRCh38] Chr5:138253574 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.796G>C (p.Asp266His)	single nucleotide variant	not provided [RCV003045098]	Chr5:138824737 [GRCh38] Chr5:138160426 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1547-17T>C	single nucleotide variant	not provided [RCV002811033]	Chr5:138924493 [GRCh38] Chr5:138260182 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1008G>A (p.Glu336=)	single nucleotide variant	not provided [RCV003030396]	Chr5:138827664 [GRCh38] Chr5:138163353 [GRCh37] Chr5:5q31.2	likely benign
NM_015564.3(LRRTM2):c.1112C>T (p.Ala371Val)	single nucleotide variant	Inborn genetic diseases [RCV002940202]	Chr5:138873449 [GRCh38] Chr5:138209138 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2262C>A (p.Ser754=)	single nucleotide variant	not provided [RCV002877528]	Chr5:138930899 [GRCh38] Chr5:138266588 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+13T>G	single nucleotide variant	not provided [RCV003030145]	Chr5:138812315 [GRCh38] Chr5:138148004 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+12G>A	single nucleotide variant	not provided [RCV002650759]	Chr5:138917910 [GRCh38] Chr5:138253599 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.999T>C (p.Ile333=)	single nucleotide variant	not provided [RCV002792068]	Chr5:138827655 [GRCh38] Chr5:138163344 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1162G>A (p.Asp388Asn)	single nucleotide variant	not provided [RCV002581198]	Chr5:138887508 [GRCh38] Chr5:138223197 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1738T>C (p.Ser580Pro)	single nucleotide variant	Inborn genetic diseases [RCV002896440]\|not provided [RCV003689029]	Chr5:138924701 [GRCh38] Chr5:138260390 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.320C>G (p.Ala107Gly)	single nucleotide variant	not provided [RCV003029380]	Chr5:138810056 [GRCh38] Chr5:138145745 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2433+19A>T	single nucleotide variant	not provided [RCV003010111]	Chr5:138932731 [GRCh38] Chr5:138268420 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1795A>G (p.Ser599Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003162099]\|not provided [RCV002648057]	Chr5:138925303 [GRCh38] Chr5:138260992 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.386G>C (p.Arg129Pro)	single nucleotide variant	not provided [RCV003047185]	Chr5:138810122 [GRCh38] Chr5:138145811 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.363A>G (p.Arg121=)	single nucleotide variant	not provided [RCV003029867]	Chr5:138810099 [GRCh38] Chr5:138145788 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.640C>T (p.Leu214=)	single nucleotide variant	not provided [RCV002877532]	Chr5:138824581 [GRCh38] Chr5:138160270 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1376C>G (p.Ala459Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308382]\|not provided [RCV002962632]	Chr5:138904428 [GRCh38] Chr5:138240117 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1425A>G (p.Pro475=)	single nucleotide variant	not provided [RCV003026492]	Chr5:138917777 [GRCh38] Chr5:138253466 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+10T>C	single nucleotide variant	not provided [RCV002856674]	Chr5:138812312 [GRCh38] Chr5:138148001 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.762C>T (p.Gly254=)	single nucleotide variant	not provided [RCV002967114]	Chr5:138824703 [GRCh38] Chr5:138160392 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1577G>A (p.Cys526Tyr)	single nucleotide variant	not provided [RCV002646112]	Chr5:138924540 [GRCh38] Chr5:138260229 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.988C>T (p.Arg330Cys)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003475420]\|not provided [RCV002770716]	Chr5:138827644 [GRCh38] Chr5:138163333 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1062+12A>G	single nucleotide variant	not provided [RCV003011189]	Chr5:138827730 [GRCh38] Chr5:138163419 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1653G>C (p.Arg551=)	single nucleotide variant	not provided [RCV002676003]	Chr5:138924616 [GRCh38] Chr5:138260305 [GRCh37] Chr5:5q31.2	likely benign
NM_015564.3(LRRTM2):c.950C>T (p.Ala317Val)	single nucleotide variant	Inborn genetic diseases [RCV002941633]	Chr5:138873611 [GRCh38] Chr5:138209300 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-15C>G	single nucleotide variant	not provided [RCV002630787]	Chr5:138933787 [GRCh38] Chr5:138269476 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2425G>T (p.Val809Phe)	single nucleotide variant	not provided [RCV003030407]	Chr5:138932704 [GRCh38] Chr5:138268393 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2590C>A (p.Pro864Thr)	single nucleotide variant	not provided [RCV003047194]	Chr5:138933958 [GRCh38] Chr5:138269647 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.58A>G (p.Ile20Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170742]\|not provided [RCV002959170]	Chr5:138781982 [GRCh38] Chr5:138117671 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1475A>G (p.Glu492Gly)	single nucleotide variant	not provided [RCV003048570]	Chr5:138917827 [GRCh38] Chr5:138253516 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.154A>C (p.Arg52=)	single nucleotide variant	not provided [RCV002720420]	Chr5:138783225 [GRCh38] Chr5:138118914 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.589-20T>G	single nucleotide variant	not provided [RCV003046839]	Chr5:138824510 [GRCh38] Chr5:138160199 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-20C>A	single nucleotide variant	not provided [RCV003061989]	Chr5:138827495 [GRCh38] Chr5:138163184 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.613G>T (p.Asp205Tyr)	single nucleotide variant	not provided [RCV002814777]	Chr5:138824554 [GRCh38] Chr5:138160243 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-11C>G	single nucleotide variant	not provided [RCV003066966]	Chr5:138933791 [GRCh38] Chr5:138269480 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.976C>T (p.Arg326Cys)	single nucleotide variant	not provided [RCV003050574]	Chr5:138827632 [GRCh38] Chr5:138163321 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1547-19C>T	single nucleotide variant	not provided [RCV003049793]	Chr5:138924491 [GRCh38] Chr5:138260180 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.588+19G>T	single nucleotide variant	not provided [RCV003050855]	Chr5:138812321 [GRCh38] Chr5:138148010 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1914G>C (p.Leu638Phe)	single nucleotide variant	not provided [RCV002814953]	Chr5:138929260 [GRCh38] Chr5:138264949 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.981T>G (p.Asp327Glu)	single nucleotide variant	not provided [RCV002943163]	Chr5:138827637 [GRCh38] Chr5:138163326 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.859-20C>T	single nucleotide variant	not provided [RCV003068684]	Chr5:138827495 [GRCh38] Chr5:138163184 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1205del (p.Leu402fs)	deletion	not provided [RCV002725722]	Chr5:138887548 [GRCh38] Chr5:138223237 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.2541G>C (p.Gln847His)	single nucleotide variant	not provided [RCV003049503]	Chr5:138933909 [GRCh38] Chr5:138269598 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-15T>C	single nucleotide variant	not provided [RCV002681086]	Chr5:138930458 [GRCh38] Chr5:138266147 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1900-13G>C	single nucleotide variant	not provided [RCV003068068]	Chr5:138929233 [GRCh38] Chr5:138264922 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.734A>T (p.Tyr245Phe)	single nucleotide variant	not provided [RCV002633871]	Chr5:138824675 [GRCh38] Chr5:138160364 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1943T>G (p.Phe648Cys)	single nucleotide variant	not provided [RCV002942178]	Chr5:138929289 [GRCh38] Chr5:138264978 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1751T>C (p.Met584Thr)	single nucleotide variant	not provided [RCV002676796]	Chr5:138925259 [GRCh38] Chr5:138260948 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2643G>C (p.Lys881Asn)	single nucleotide variant	not provided [RCV002606424]	Chr5:138934011 [GRCh38] Chr5:138269700 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1900-9G>C	single nucleotide variant	not provided [RCV002588754]	Chr5:138929237 [GRCh38] Chr5:138264926 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2587G>C (p.Ala863Pro)	single nucleotide variant	not provided [RCV002814972]	Chr5:138933955 [GRCh38] Chr5:138269644 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.534A>T (p.Lys178Asn)	single nucleotide variant	not provided [RCV002589743]	Chr5:138812248 [GRCh38] Chr5:138147937 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1062+11C>T	single nucleotide variant	not provided [RCV002680790]	Chr5:138827729 [GRCh38] Chr5:138163418 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-18G>A	single nucleotide variant	not provided [RCV003032141]	Chr5:138827497 [GRCh38] Chr5:138163186 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1708G>A (p.Glu570Lys)	single nucleotide variant	not provided [RCV002586536]	Chr5:138924671 [GRCh38] Chr5:138260360 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+18T>C	single nucleotide variant	not provided [RCV002654344]	Chr5:138810222 [GRCh38] Chr5:138145911 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.301+14G>A	single nucleotide variant	not provided [RCV003050856]	Chr5:138783386 [GRCh38] Chr5:138119075 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-7T>A	single nucleotide variant	not provided [RCV002814257]	Chr5:138827508 [GRCh38] Chr5:138163197 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.949G>T (p.Ala317Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181621]	Chr5:138827605 [GRCh38] Chr5:138163294 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1130A>T (p.Asp377Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181622]	Chr5:138886279 [GRCh38] Chr5:138221968 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2530C>A (p.Gln844Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181623]	Chr5:138933898 [GRCh38] Chr5:138269587 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2220G>C (p.Ser740=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181624]	Chr5:138930857 [GRCh38] Chr5:138266546 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1369_1370dup (p.Leu457fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003181625]	Chr5:138904420..138904421 [GRCh38] Chr5:138240109..138240110 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.252G>A (p.Gln84=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181626]	Chr5:138783323 [GRCh38] Chr5:138119012 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1158C>T (p.Val386=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181627]\|not provided [RCV003689047]	Chr5:138887504 [GRCh38] Chr5:138223193 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2697G>A (p.Glu899=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181633]\|not provided [RCV003679168]	Chr5:138934065 [GRCh38] Chr5:138269754 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.265G>C (p.Glu89Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003164920]	Chr5:138783336 [GRCh38] Chr5:138119025 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.577A>T (p.Lys193Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003164924]	Chr5:138812291 [GRCh38] Chr5:138147980 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2235T>C (p.Ala745=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003216523]\|not provided [RCV003575056]	Chr5:138930872 [GRCh38] Chr5:138266561 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.271G>A (p.Val91Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168254]	Chr5:138783342 [GRCh38] Chr5:138119031 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2694C>G (p.Ser898Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168255]	Chr5:138934062 [GRCh38] Chr5:138269751 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1750A>G (p.Met584Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168256]	Chr5:138925258 [GRCh38] Chr5:138260947 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.502G>A (p.Gly168Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003216526]	Chr5:138812216 [GRCh38] Chr5:138147905 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.859-5T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003216527]\|not provided [RCV003779760]	Chr5:138827510 [GRCh38] Chr5:138163199 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_001903.5(CTNNA1):c.218T>A (p.Leu73Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003216529]	Chr5:138783289 [GRCh38] Chr5:138118978 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2675A>T (p.Asn892Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003164889]\|not provided [RCV003549000]	Chr5:138934043 [GRCh38] Chr5:138269732 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2320C>A (p.Gln774Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003164916]\|not provided [RCV003332421]	Chr5:138932599 [GRCh38] Chr5:138268288 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1432A>G (p.Lys478Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168252]	Chr5:138917784 [GRCh38] Chr5:138253473 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1939G>T (p.Asp647Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168253]	Chr5:138929285 [GRCh38] Chr5:138264974 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2460G>A (p.Gln820=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181640]	Chr5:138933828 [GRCh38] Chr5:138269517 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1367A>C (p.Gln456Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181641]	Chr5:138904419 [GRCh38] Chr5:138240108 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2218T>G (p.Ser740Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181642]	Chr5:138930855 [GRCh38] Chr5:138266544 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2628T>C (p.Asp876=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168257]	Chr5:138933996 [GRCh38] Chr5:138269685 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2155A>C (p.Met719Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003168258]	Chr5:138930617 [GRCh38] Chr5:138266306 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1074del (p.Glu359fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003181619]	Chr5:138886221 [GRCh38] Chr5:138221910 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1638A>G (p.Arg546=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181620]\|not provided [RCV003561205]	Chr5:138924601 [GRCh38] Chr5:138260290 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.775G>C (p.Ala259Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181628]	Chr5:138824716 [GRCh38] Chr5:138160405 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.76G>A (p.Glu26Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181629]	Chr5:138782000 [GRCh38] Chr5:138117689 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2069G>T (p.Ser690Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181630]	Chr5:138930531 [GRCh38] Chr5:138266220 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2615G>C (p.Arg872Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181631]	Chr5:138933983 [GRCh38] Chr5:138269672 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.333C>A (p.Phe111Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181637]	Chr5:138810069 [GRCh38] Chr5:138145758 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1859A>G (p.Asp620Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181638]	Chr5:138925367 [GRCh38] Chr5:138261056 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1729A>C (p.Lys577Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181639]	Chr5:138924692 [GRCh38] Chr5:138260381 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)	duplication	Hereditary diffuse gastric adenocarcinoma [RCV003140343]	Chr5:138917823..138917824 [GRCh38] Chr5:138253512..138253513 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1193A>T (p.Asn398Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301425]\|not provided [RCV003708762]	Chr5:138887539 [GRCh38] Chr5:138223228 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1054A>C (p.Met352Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301438]\|not provided [RCV003561287]	Chr5:138827710 [GRCh38] Chr5:138163399 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1036G>A (p.Asp346Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301441]	Chr5:138827692 [GRCh38] Chr5:138163381 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1314T>C (p.Cys438=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301443]	Chr5:138904366 [GRCh38] Chr5:138240055 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1375G>A (p.Ala459Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301446]	Chr5:138904427 [GRCh38] Chr5:138240116 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2618A>G (p.Glu873Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301447]	Chr5:138933986 [GRCh38] Chr5:138269675 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1508A>G (p.Asp503Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301453]	Chr5:138917860 [GRCh38] Chr5:138253549 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1868G>C (p.Arg623Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301455]	Chr5:138925376 [GRCh38] Chr5:138261065 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1874T>C (p.Ile625Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003301456]	Chr5:138925382 [GRCh38] Chr5:138261071 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003140384]	Chr5:138824599..138824605 [GRCh38] Chr5:138160288..138160294 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2617G>A (p.Glu873Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003164923]	Chr5:138933985 [GRCh38] Chr5:138269674 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1723G>A (p.Ala575Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181632]	Chr5:138924686 [GRCh38] Chr5:138260375 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1511A>G (p.Asp504Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181634]	Chr5:138917863 [GRCh38] Chr5:138253552 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1021dup (p.Arg341fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003181635]	Chr5:138827675..138827676 [GRCh38] Chr5:138163364..138163365 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1418C>A (p.Ala473Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003181636]	Chr5:138917770 [GRCh38] Chr5:138253459 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.356T>G (p.Val119Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003216525]	Chr5:138810092 [GRCh38] Chr5:138145781 [GRCh37] Chr5:5q31.2	uncertain significance
NM_015564.3(LRRTM2):c.520G>A (p.Val174Ile)	single nucleotide variant	Inborn genetic diseases [RCV003194659]	Chr5:138874041 [GRCh38] Chr5:138209730 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1054A>T (p.Met352Leu)	single nucleotide variant	not provided [RCV003228431]	Chr5:138827710 [GRCh38] Chr5:138163399 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2717T>G (p.Ile906Ser)	single nucleotide variant	not provided [RCV003318953]	Chr5:138934085 [GRCh38] Chr5:138269774 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2626G>A (p.Asp876Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003305499]	Chr5:138933994 [GRCh38] Chr5:138269683 [GRCh37] Chr5:5q31.2	uncertain significance
NM_015564.3(LRRTM2):c.1214T>C (p.Val405Ala)	single nucleotide variant	Inborn genetic diseases [RCV003262898]	Chr5:138873347 [GRCh38] Chr5:138209036 [GRCh37] Chr5:5q31.2	uncertain significance
NM_015564.3(LRRTM2):c.1465C>A (p.Pro489Thr)	single nucleotide variant	Inborn genetic diseases [RCV003285146]	Chr5:138873096 [GRCh38] Chr5:138208785 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+3A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380230]	Chr5:138810207 [GRCh38] Chr5:138145896 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1713G>C (p.Lys571Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380233]	Chr5:138924676 [GRCh38] Chr5:138260365 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.203C>A (p.Ala68Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380241]	Chr5:138783274 [GRCh38] Chr5:138118963 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.405T>C (p.Val135=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380243]\|not provided [RCV003661051]	Chr5:138810141 [GRCh38] Chr5:138145830 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.632G>C (p.Arg211Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380244]	Chr5:138824573 [GRCh38] Chr5:138160262 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1284C>T (p.Asn428=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380246]	Chr5:138887630 [GRCh38] Chr5:138223319 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.912C>T (p.Ser304=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380247]	Chr5:138827568 [GRCh38] Chr5:138163257 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2204C>T (p.Pro735Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380232]	Chr5:138930841 [GRCh38] Chr5:138266530 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.913C>T (p.Leu305=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003381530]\|not provided [RCV003738446]	Chr5:138827569 [GRCh38] Chr5:138163258 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2711A>G (p.Asp904Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003381601]\|not provided [RCV003561329]	Chr5:138934079 [GRCh38] Chr5:138269768 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-3_1748-2del	microsatellite	Hereditary cancer-predisposing syndrome [RCV003381638]	Chr5:138925251..138925252 [GRCh38] Chr5:138260940..138260941 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.581G>A (p.Arg194Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003381688]	Chr5:138812295 [GRCh38] Chr5:138147984 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2038C>G (p.Gln680Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380231]	Chr5:138930500 [GRCh38] Chr5:138266189 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-3C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380229]	Chr5:138925253 [GRCh38] Chr5:138260942 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1696G>A (p.Gly566Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003381590]	Chr5:138924659 [GRCh38] Chr5:138260348 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003334754]	Chr5:138783284..138783285 [GRCh38] Chr5:138118973..138118974 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.563del (p.Asn188fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003380240]	Chr5:138812276 [GRCh38] Chr5:138147965 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.913dup (p.Leu305fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003380235]	Chr5:138827566..138827567 [GRCh38] Chr5:138163255..138163256 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1510G>A (p.Asp504Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380234]	Chr5:138917862 [GRCh38] Chr5:138253551 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.597A>G (p.Lys199=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380239]	Chr5:138824538 [GRCh38] Chr5:138160227 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.889A>T (p.Ser297Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380245]	Chr5:138827545 [GRCh38] Chr5:138163234 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2562T>G (p.Leu854=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380249]\|not provided [RCV003669401]	Chr5:138933930 [GRCh38] Chr5:138269619 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2398G>A (p.Val800Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380236]	Chr5:138932677 [GRCh38] Chr5:138268366 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2126G>A (p.Gly709Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380237]	Chr5:138930588 [GRCh38] Chr5:138266277 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1597A>T (p.Lys533Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380242]	Chr5:138924560 [GRCh38] Chr5:138260249 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2256A>G (p.Ala752=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380248]	Chr5:138930893 [GRCh38] Chr5:138266582 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2556C>G (p.Leu852=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003380238]	Chr5:138933924 [GRCh38] Chr5:138269613 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-6_1392delinsA	indel	Hereditary diffuse gastric adenocarcinoma [RCV003455913]	Chr5:138917736..138917744 [GRCh38] Chr5:138253425..138253433 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455917]	Chr5:138917832 [GRCh38] Chr5:138253521 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455952]	Chr5:138827702 [GRCh38] Chr5:138163391 [GRCh37] Chr5:5q31.2	pathogenic
NM_015564.3(LRRTM2):c.1136C>T (p.Thr379Ile)	single nucleotide variant	Inborn genetic diseases [RCV003367598]	Chr5:138873425 [GRCh38] Chr5:138209114 [GRCh37] Chr5:5q31.2	uncertain significance
NM_015564.3(LRRTM2):c.698C>T (p.Thr233Met)	single nucleotide variant	Inborn genetic diseases [RCV003349444]	Chr5:138873863 [GRCh38] Chr5:138209552 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2662AAG[1] (p.Lys889del)	microsatellite	Patterned macular dystrophy 2 [RCV003475794]	Chr5:138934028..138934030 [GRCh38] Chr5:138269717..138269719 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.662T>C (p.Leu221Pro)	single nucleotide variant	not provided [RCV003571436]	Chr5:138824603 [GRCh38] Chr5:138160292 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.83T>A (p.Leu28Gln)	single nucleotide variant	not provided [RCV003571444]	Chr5:138782007 [GRCh38] Chr5:138117696 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.68T>C (p.Leu23Pro)	single nucleotide variant	not provided [RCV003571447]	Chr5:138781992 [GRCh38] Chr5:138117681 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.590A>C (p.Glu197Ala)	single nucleotide variant	not provided [RCV003569531]	Chr5:138824531 [GRCh38] Chr5:138160220 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.550G>T (p.Val184Leu)	single nucleotide variant	not provided [RCV003690996]	Chr5:138812264 [GRCh38] Chr5:138147953 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2193-15C>A	single nucleotide variant	not provided [RCV003570319]	Chr5:138930815 [GRCh38] Chr5:138266504 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.211A>G (p.Asn71Asp)	single nucleotide variant	not provided [RCV003570033]	Chr5:138783282 [GRCh38] Chr5:138118971 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455957]	Chr5:138917825 [GRCh38] Chr5:138253514 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455964]	Chr5:138781963 [GRCh38] Chr5:138117652 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.81_82insGTCCTCTGG (p.Arg27_Leu28insValLeuTrp)	insertion	not provided [RCV003571440]	Chr5:138782005..138782006 [GRCh38] Chr5:138117694..138117695 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1970A>G (p.Gln657Arg)	single nucleotide variant	not provided [RCV003875344]	Chr5:138929316 [GRCh38] Chr5:138265005 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1241A>T (p.Lys414Ile)	single nucleotide variant	not provided [RCV003569907]	Chr5:138887587 [GRCh38] Chr5:138223276 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2474TGA[1] (p.Met826del)	microsatellite	not provided [RCV003543245]	Chr5:138933842..138933844 [GRCh38] Chr5:138269531..138269533 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.949G>A (p.Ala317Thr)	single nucleotide variant	not provided [RCV003543257]	Chr5:138827605 [GRCh38] Chr5:138163294 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1389+9C>G	single nucleotide variant	not provided [RCV003543265]	Chr5:138904450 [GRCh38] Chr5:138240139 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1592A>C (p.Gln531Pro)	single nucleotide variant	not provided [RCV003873820]	Chr5:138924555 [GRCh38] Chr5:138260244 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1722A>G (p.Glu574=)	single nucleotide variant	not provided [RCV003570909]	Chr5:138924685 [GRCh38] Chr5:138260374 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.853T>C (p.Phe285Leu)	single nucleotide variant	not provided [RCV003543732]	Chr5:138824794 [GRCh38] Chr5:138160483 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2223T>C (p.Asp741=)	single nucleotide variant	not provided [RCV003571049]	Chr5:138930860 [GRCh38] Chr5:138266549 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.126C>T (p.Thr42=)	single nucleotide variant	not provided [RCV003543582]	Chr5:138783197 [GRCh38] Chr5:138118886 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1062+16T>G	single nucleotide variant	not provided [RCV003569477]	Chr5:138827734 [GRCh38] Chr5:138163423 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.556A>G (p.Lys186Glu)	single nucleotide variant	not provided [RCV003571699]	Chr5:138812270 [GRCh38] Chr5:138147959 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1745_1746insTGGAA (p.Val583fs)	insertion	not provided [RCV003569898]	Chr5:138924708..138924709 [GRCh38] Chr5:138260397..138260398 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.572C>A (p.Ala191Glu)	single nucleotide variant	not provided [RCV003569296]	Chr5:138812286 [GRCh38] Chr5:138147975 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1943T>A (p.Phe648Tyr)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003475798]	Chr5:138929289 [GRCh38] Chr5:138264978 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2008dup (p.Arg670fs)	duplication	Hereditary diffuse gastric adenocarcinoma [RCV003450575]	Chr5:138929351..138929352 [GRCh38] Chr5:138265040..138265041 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)	duplication	Hereditary diffuse gastric adenocarcinoma [RCV003450601]\|not provided [RCV003575098]	Chr5:138810117..138810118 [GRCh38] Chr5:138145806..138145807 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003450587]	Chr5:138812291 [GRCh38] Chr5:138147980 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.728_731dup (p.Tyr245fs)	duplication	Patterned macular dystrophy 2 [RCV003475797]	Chr5:138824668..138824669 [GRCh38] Chr5:138160357..138160358 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2651G>A (p.Arg884Gln)	single nucleotide variant	Patterned macular dystrophy 2 [RCV003475795]\|not provided [RCV003669438]	Chr5:138934019 [GRCh38] Chr5:138269708 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+1G>T	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455915]	Chr5:138810205 [GRCh38] Chr5:138145894 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)	deletion	CTNNA1-related condition [RCV003946638]\|Hereditary diffuse gastric adenocarcinoma [RCV003455920]\|not provided [RCV003720912]	Chr5:138782022 [GRCh38] Chr5:138117711 [GRCh37] Chr5:5q31.2	pathogenic\|uncertain significance
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455925]	Chr5:138925330 [GRCh38] Chr5:138261019 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003455943]	Chr5:138827548 [GRCh38] Chr5:138163237 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)	duplication	Hereditary diffuse gastric adenocarcinoma [RCV003455949]	Chr5:138917813..138917814 [GRCh38] Chr5:138253502..138253503 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003455960]	Chr5:138904375..138904378 [GRCh38] Chr5:138240064..138240067 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003450602]	Chr5:138824680 [GRCh38] Chr5:138160369 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)	deletion	Hereditary diffuse gastric adenocarcinoma [RCV003450604]	Chr5:138824548..138824563 [GRCh38] Chr5:138160237..138160252 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)	single nucleotide variant	Hereditary diffuse gastric adenocarcinoma [RCV003452221]	Chr5:138886224 [GRCh38] Chr5:138221913 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1547-9G>T	single nucleotide variant	not provided [RCV003713089]	Chr5:138924501 [GRCh38] Chr5:138260190 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1269C>T (p.Phe423=)	single nucleotide variant	not provided [RCV003689674]	Chr5:138887615 [GRCh38] Chr5:138223304 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1739C>A (p.Ser580Tyr)	single nucleotide variant	not provided [RCV003578866]	Chr5:138924702 [GRCh38] Chr5:138260391 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.660C>T (p.Ile220=)	single nucleotide variant	not provided [RCV003694105]	Chr5:138824601 [GRCh38] Chr5:138160290 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1872C>T (p.Asp624=)	single nucleotide variant	not provided [RCV003739928]	Chr5:138925380 [GRCh38] Chr5:138261069 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.438_440dup (p.Val147_Tyr148insVal)	duplication	not provided [RCV003696479]	Chr5:138810173..138810174 [GRCh38] Chr5:138145862..138145863 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2338C>T (p.Leu780=)	single nucleotide variant	not provided [RCV003690627]	Chr5:138932617 [GRCh38] Chr5:138268306 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2299-12C>G	single nucleotide variant	not provided [RCV003544463]	Chr5:138932566 [GRCh38] Chr5:138268255 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.829G>A (p.Glu277Lys)	single nucleotide variant	not provided [RCV003714708]	Chr5:138824770 [GRCh38] Chr5:138160459 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.799G>C (p.Ala267Pro)	single nucleotide variant	not provided [RCV003575403]	Chr5:138824740 [GRCh38] Chr5:138160429 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1967T>C (p.Val656Ala)	single nucleotide variant	not provided [RCV003579281]	Chr5:138929313 [GRCh38] Chr5:138265002 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2170A>T (p.Met724Leu)	single nucleotide variant	not provided [RCV003572693]	Chr5:138930632 [GRCh38] Chr5:138266321 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.625G>T (p.Ala209Ser)	single nucleotide variant	not provided [RCV003688485]	Chr5:138824566 [GRCh38] Chr5:138160255 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.286G>A (p.Asp96Asn)	single nucleotide variant	not provided [RCV003831540]	Chr5:138783357 [GRCh38] Chr5:138119046 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-4G>C	single nucleotide variant	not provided [RCV003693536]	Chr5:138933798 [GRCh38] Chr5:138269487 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-7T>C	single nucleotide variant	not provided [RCV003579435]	Chr5:138917735 [GRCh38] Chr5:138253424 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.768C>T (p.Ser256=)	single nucleotide variant	not provided [RCV003830901]	Chr5:138824709 [GRCh38] Chr5:138160398 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.425C>T (p.Ala142Val)	single nucleotide variant	not provided [RCV003740368]	Chr5:138810161 [GRCh38] Chr5:138145850 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.450A>C (p.Leu150Phe)	single nucleotide variant	not provided [RCV003687738]	Chr5:138810186 [GRCh38] Chr5:138145875 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2401C>T (p.Gln801Ter)	single nucleotide variant	not provided [RCV003574638]	Chr5:138932680 [GRCh38] Chr5:138268369 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2064G>A (p.Val688=)	single nucleotide variant	not provided [RCV003576455]	Chr5:138930526 [GRCh38] Chr5:138266215 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1020C>G (p.Val340=)	single nucleotide variant	not provided [RCV003573369]	Chr5:138827676 [GRCh38] Chr5:138163365 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+15G>C	single nucleotide variant	not provided [RCV003738706]	Chr5:138824814 [GRCh38] Chr5:138160503 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1143+18G>A	single nucleotide variant	not provided [RCV003739878]	Chr5:138886310 [GRCh38] Chr5:138221999 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+12C>T	single nucleotide variant	not provided [RCV003716711]	Chr5:138930666 [GRCh38] Chr5:138266355 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1294G>T (p.Glu432Ter)	single nucleotide variant	not provided [RCV003692987]	Chr5:138887640 [GRCh38] Chr5:138223329 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2633C>G (p.Thr878Arg)	single nucleotide variant	not provided [RCV003577973]	Chr5:138934001 [GRCh38] Chr5:138269690 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2708T>A (p.Met903Lys)	single nucleotide variant	not provided [RCV003689553]	Chr5:138934076 [GRCh38] Chr5:138269765 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+11T>C	single nucleotide variant	not provided [RCV003716218]	Chr5:138924721 [GRCh38] Chr5:138260410 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1452G>A (p.Met484Ile)	single nucleotide variant	not provided [RCV003692476]	Chr5:138917804 [GRCh38] Chr5:138253493 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1116dup (p.Lys373fs)	duplication	not provided [RCV003714412]	Chr5:138886263..138886264 [GRCh38] Chr5:138221952..138221953 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2192+1G>A	single nucleotide variant	not provided [RCV003828110]	Chr5:138930655 [GRCh38] Chr5:138266344 [GRCh37] Chr5:5q31.2	likely pathogenic
NM_001903.5(CTNNA1):c.2434-16C>A	single nucleotide variant	not provided [RCV003575752]	Chr5:138933786 [GRCh38] Chr5:138269475 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1846del (p.Arg616fs)	deletion	not provided [RCV003544832]	Chr5:138925352 [GRCh38] Chr5:138261041 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1062+22dup	duplication	not provided [RCV003694456]	Chr5:138827737..138827738 [GRCh38] Chr5:138163426..138163427 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+14T>C	single nucleotide variant	not provided [RCV003739168]	Chr5:138917912 [GRCh38] Chr5:138253601 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2468A>G (p.Lys823Arg)	single nucleotide variant	not provided [RCV003544461]	Chr5:138933836 [GRCh38] Chr5:138269525 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.682T>C (p.Cys228Arg)	single nucleotide variant	not provided [RCV003689193]	Chr5:138824623 [GRCh38] Chr5:138160312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2174A>G (p.Glu725Gly)	single nucleotide variant	not provided [RCV003695050]	Chr5:138930636 [GRCh38] Chr5:138266325 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1842T>G (p.Ala614=)	single nucleotide variant	not provided [RCV003691350]	Chr5:138925350 [GRCh38] Chr5:138261039 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1063-12C>T	single nucleotide variant	not provided [RCV003578104]	Chr5:138886200 [GRCh38] Chr5:138221889 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1453G>T (p.Asp485Tyr)	single nucleotide variant	not provided [RCV003686634]	Chr5:138917805 [GRCh38] Chr5:138253494 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1642C>A (p.Arg548=)	single nucleotide variant	not provided [RCV003692902]	Chr5:138924605 [GRCh38] Chr5:138260294 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)	single nucleotide variant	Congenital fibrosis of extraocular muscles [RCV003883449]	Chr5:138933806 [GRCh38] Chr5:138269495 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1977A>G (p.Glu659=)	single nucleotide variant	not provided [RCV003544087]	Chr5:138929323 [GRCh38] Chr5:138265012 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+14G>C	single nucleotide variant	not provided [RCV003713592]	Chr5:138932726 [GRCh38] Chr5:138268415 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-8A>C	single nucleotide variant	not provided [RCV003696278]	Chr5:138887482 [GRCh38] Chr5:138223171 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2568T>G (p.Ala856=)	single nucleotide variant	not provided [RCV003579075]	Chr5:138933936 [GRCh38] Chr5:138269625 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1317C>A (p.Ser439=)	single nucleotide variant	not provided [RCV003694763]	Chr5:138904369 [GRCh38] Chr5:138240058 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2582_2584dup (p.Met861_Lys862insMet)	duplication	not provided [RCV003545188]	Chr5:138933947..138933948 [GRCh38] Chr5:138269636..138269637 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+18_105+19del	microsatellite	not provided [RCV003545201]	Chr5:138782044..138782045 [GRCh38] Chr5:138117733..138117734 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1916A>C (p.Asp639Ala)	single nucleotide variant	not provided [RCV003690486]	Chr5:138929262 [GRCh38] Chr5:138264951 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.469-14T>G	single nucleotide variant	not provided [RCV003739455]	Chr5:138812169 [GRCh38] Chr5:138147858 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.624T>A (p.Ala208=)	single nucleotide variant	not provided [RCV003577142]	Chr5:138824565 [GRCh38] Chr5:138160254 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1876A>G (p.Arg626Gly)	single nucleotide variant	not provided [RCV003690876]	Chr5:138925384 [GRCh38] Chr5:138261073 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1660C>G (p.His554Asp)	single nucleotide variant	not provided [RCV003544125]	Chr5:138924623 [GRCh38] Chr5:138260312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1164C>T (p.Asp388=)	single nucleotide variant	not provided [RCV003694843]	Chr5:138887510 [GRCh38] Chr5:138223199 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1547-12C>G	single nucleotide variant	not provided [RCV003714974]	Chr5:138924498 [GRCh38] Chr5:138260187 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1368G>T (p.Gln456His)	single nucleotide variant	not provided [RCV003572301]	Chr5:138904420 [GRCh38] Chr5:138240109 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2138T>C (p.Ile713Thr)	single nucleotide variant	not provided [RCV003544370]	Chr5:138930600 [GRCh38] Chr5:138266289 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2192+14C>G	single nucleotide variant	not provided [RCV003544829]	Chr5:138930668 [GRCh38] Chr5:138266357 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1747+18T>C	single nucleotide variant	not provided [RCV003661252]	Chr5:138924728 [GRCh38] Chr5:138260417 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.618G>A (p.Gln206=)	single nucleotide variant	not provided [RCV003576454]	Chr5:138824559 [GRCh38] Chr5:138160248 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.580A>C (p.Arg194=)	single nucleotide variant	not provided [RCV003574394]	Chr5:138812294 [GRCh38] Chr5:138147983 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1488T>C (p.Arg496=)	single nucleotide variant	not provided [RCV003574396]	Chr5:138917840 [GRCh38] Chr5:138253529 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2241G>A (p.Lys747=)	single nucleotide variant	not provided [RCV003694607]	Chr5:138930878 [GRCh38] Chr5:138266567 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1296+18T>G	single nucleotide variant	not provided [RCV003691785]	Chr5:138887660 [GRCh38] Chr5:138223349 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.538C>T (p.Leu180=)	single nucleotide variant	not provided [RCV003739588]	Chr5:138812252 [GRCh38] Chr5:138147941 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.111A>T (p.Thr37=)	single nucleotide variant	not provided [RCV003574522]	Chr5:138783182 [GRCh38] Chr5:138118871 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2193-14T>C	single nucleotide variant	not provided [RCV003575846]	Chr5:138930816 [GRCh38] Chr5:138266505 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2474_2661dup (p.Lys888Ter)	duplication	not provided [RCV003686686]	Chr5:138933841..138933842 [GRCh38] Chr5:138269530..138269531 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2031C>T (p.Pro677=)	single nucleotide variant	not provided [RCV003578814]	Chr5:138930493 [GRCh38] Chr5:138266182 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1474G>A (p.Glu492Lys)	single nucleotide variant	not provided [RCV003574617]	Chr5:138917826 [GRCh38] Chr5:138253515 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1630G>A (p.Ala544Thr)	single nucleotide variant	not provided [RCV003695730]	Chr5:138924593 [GRCh38] Chr5:138260282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1049A>C (p.Glu350Ala)	single nucleotide variant	not provided [RCV003576178]	Chr5:138827705 [GRCh38] Chr5:138163394 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2193-12C>T	single nucleotide variant	not provided [RCV003573871]	Chr5:138930818 [GRCh38] Chr5:138266507 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2226C>A (p.Val742=)	single nucleotide variant	not provided [RCV003544567]	Chr5:138930863 [GRCh38] Chr5:138266552 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2198_2202dup (p.Pro735fs)	duplication	not provided [RCV003716003]	Chr5:138930833..138930834 [GRCh38] Chr5:138266522..138266523 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1296+3A>T	single nucleotide variant	not provided [RCV003878450]	Chr5:138887645 [GRCh38] Chr5:138223334 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-9T>C	single nucleotide variant	not provided [RCV003575315]	Chr5:138930464 [GRCh38] Chr5:138266153 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1423C>G (p.Pro475Ala)	single nucleotide variant	not provided [RCV003690306]	Chr5:138917775 [GRCh38] Chr5:138253464 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+5G>A	single nucleotide variant	not provided [RCV003692304]	Chr5:138810209 [GRCh38] Chr5:138145898 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.729G>C (p.Leu243=)	single nucleotide variant	not provided [RCV003688681]	Chr5:138824670 [GRCh38] Chr5:138160359 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2606_2614dup (p.Lys871_Arg872insMetValLys)	duplication	not provided [RCV003690997]	Chr5:138933973..138933974 [GRCh38] Chr5:138269662..138269663 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1355T>A (p.Met452Lys)	single nucleotide variant	not provided [RCV003544830]	Chr5:138904407 [GRCh38] Chr5:138240096 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2032C>T (p.Gln678Ter)	single nucleotide variant	not provided [RCV003572973]	Chr5:138930494 [GRCh38] Chr5:138266183 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.641T>C (p.Leu214Pro)	single nucleotide variant	not provided [RCV003714010]	Chr5:138824582 [GRCh38] Chr5:138160271 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1010_1011del (p.Glu336_Cys337insTer)	microsatellite	not provided [RCV003712972]	Chr5:138827664..138827665 [GRCh38] Chr5:138163353..138163354 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1924_1927dup (p.Phe643Ter)	duplication	not provided [RCV003545509]	Chr5:138929267..138929268 [GRCh38] Chr5:138264956..138264957 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1747+16C>A	single nucleotide variant	not provided [RCV003545329]	Chr5:138924726 [GRCh38] Chr5:138260415 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2675A>C (p.Asn892Thr)	single nucleotide variant	not provided [RCV003549846]	Chr5:138934043 [GRCh38] Chr5:138269732 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1724C>T (p.Ala575Val)	single nucleotide variant	not provided [RCV003716922]	Chr5:138924687 [GRCh38] Chr5:138260376 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2370G>A (p.Leu790=)	single nucleotide variant	not provided [RCV003699899]	Chr5:138932649 [GRCh38] Chr5:138268338 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2273A>T (p.Lys758Met)	single nucleotide variant	not provided [RCV003696928]	Chr5:138930910 [GRCh38] Chr5:138266599 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1062+5G>T	single nucleotide variant	not provided [RCV003696929]	Chr5:138827723 [GRCh38] Chr5:138163412 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.251A>C (p.Gln84Pro)	single nucleotide variant	not provided [RCV003549336]	Chr5:138783322 [GRCh38] Chr5:138119011 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.388G>T (p.Ala130Ser)	single nucleotide variant	not provided [RCV003549671]	Chr5:138810124 [GRCh38] Chr5:138145813 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.17C>T (p.Ala6Val)	single nucleotide variant	not provided [RCV003560814]	Chr5:138781941 [GRCh38] Chr5:138117630 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.783C>A (p.Ala261=)	single nucleotide variant	not provided [RCV003549476]	Chr5:138824724 [GRCh38] Chr5:138160413 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1452G>C (p.Met484Ile)	single nucleotide variant	not provided [RCV003559369]	Chr5:138917804 [GRCh38] Chr5:138253493 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2165T>C (p.Ile722Thr)	single nucleotide variant	not provided [RCV003839225]	Chr5:138930627 [GRCh38] Chr5:138266316 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2692A>T (p.Ser898Cys)	single nucleotide variant	not provided [RCV003560830]	Chr5:138934060 [GRCh38] Chr5:138269749 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2281_2286del (p.Arg761_Thr762del)	deletion	not provided [RCV003558274]	Chr5:138930917..138930922 [GRCh38] Chr5:138266606..138266611 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1055T>C (p.Met352Thr)	single nucleotide variant	not provided [RCV003849921]	Chr5:138827711 [GRCh38] Chr5:138163400 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1088C>A (p.Ala363Glu)	single nucleotide variant	not provided [RCV003839484]	Chr5:138886237 [GRCh38] Chr5:138221926 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2435T>C (p.Val812Ala)	single nucleotide variant	not provided [RCV003703456]	Chr5:138933803 [GRCh38] Chr5:138269492 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+2_1747+3insTCCAAC	insertion	not provided [RCV003671170]	Chr5:138924712..138924713 [GRCh38] Chr5:138260401..138260402 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.622G>T (p.Ala208Ser)	single nucleotide variant	not provided [RCV003696995]	Chr5:138824563 [GRCh38] Chr5:138160252 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-10dup	duplication	not provided [RCV003561527]	Chr5:138933791..138933792 [GRCh38] Chr5:138269480..138269481 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.40G>C (p.Asp14His)	single nucleotide variant	not provided [RCV003674018]	Chr5:138781964 [GRCh38] Chr5:138117653 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2515G>A (p.Ala839Thr)	single nucleotide variant	not provided [RCV003559206]	Chr5:138933883 [GRCh38] Chr5:138269572 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.302-19T>G	single nucleotide variant	not provided [RCV003561598]	Chr5:138810019 [GRCh38] Chr5:138145708 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1307T>C (p.Leu436Ser)	single nucleotide variant	not provided [RCV003674457]	Chr5:138904359 [GRCh38] Chr5:138240048 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2298+4_2298+5del	deletion	not provided [RCV003702627]	Chr5:138930939..138930940 [GRCh38] Chr5:138266628..138266629 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2688C>T (p.Ala896=)	single nucleotide variant	not provided [RCV003666328]	Chr5:138934056 [GRCh38] Chr5:138269745 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+12T>G	single nucleotide variant	not provided [RCV003557925]	Chr5:138824811 [GRCh38] Chr5:138160500 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV003561889]	Chr5:138781925 [GRCh38] Chr5:138117614 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.382G>C (p.Ala128Pro)	single nucleotide variant	not provided [RCV003558123]	Chr5:138810118 [GRCh38] Chr5:138145807 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.244G>C (p.Glu82Gln)	single nucleotide variant	not provided [RCV003724863]	Chr5:138783315 [GRCh38] Chr5:138119004 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.478G>T (p.Gly160Cys)	single nucleotide variant	not provided [RCV003702108]	Chr5:138812192 [GRCh38] Chr5:138147881 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1297-8G>T	single nucleotide variant	not provided [RCV003856399]	Chr5:138904341 [GRCh38] Chr5:138240030 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-16C>T	single nucleotide variant	not provided [RCV003856407]	Chr5:138812167 [GRCh38] Chr5:138147856 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2457C>T (p.Ile819=)	single nucleotide variant	not provided [RCV003723931]	Chr5:138933825 [GRCh38] Chr5:138269514 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-13T>C	single nucleotide variant	not provided [RCV003671564]	Chr5:138812170 [GRCh38] Chr5:138147859 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.695C>G (p.Pro232Arg)	single nucleotide variant	not provided [RCV003839247]	Chr5:138824636 [GRCh38] Chr5:138160325 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.784A>C (p.Thr262Pro)	single nucleotide variant	not provided [RCV003667537]	Chr5:138824725 [GRCh38] Chr5:138160414 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+20T>C	single nucleotide variant	not provided [RCV003558086]	Chr5:138810224 [GRCh38] Chr5:138145913 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1888C>G (p.Leu630Val)	single nucleotide variant	not provided [RCV003558028]	Chr5:138925396 [GRCh38] Chr5:138261085 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+12G>A	single nucleotide variant	not provided [RCV003559526]	Chr5:138810216 [GRCh38] Chr5:138145905 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.418A>G (p.Ile140Val)	single nucleotide variant	not provided [RCV003701806]	Chr5:138810154 [GRCh38] Chr5:138145843 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.609T>C (p.His203=)	single nucleotide variant	not provided [RCV003671583]	Chr5:138824550 [GRCh38] Chr5:138160239 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-6T>G	single nucleotide variant	not provided [RCV003702838]	Chr5:138904343 [GRCh38] Chr5:138240032 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1446G>A (p.Glu482=)	single nucleotide variant	not provided [RCV003723369]	Chr5:138917798 [GRCh38] Chr5:138253487 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1644G>A (p.Arg548=)	single nucleotide variant	not provided [RCV003673482]	Chr5:138924607 [GRCh38] Chr5:138260296 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.469-12C>T	single nucleotide variant	not provided [RCV003702956]	Chr5:138812171 [GRCh38] Chr5:138147860 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter)	single nucleotide variant	not provided [RCV003723409]	Chr5:138917778 [GRCh38] Chr5:138253467 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2434-12T>C	single nucleotide variant	not provided [RCV003559670]	Chr5:138933790 [GRCh38] Chr5:138269479 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2112A>G (p.Lys704=)	single nucleotide variant	not provided [RCV003561419]	Chr5:138930574 [GRCh38] Chr5:138266263 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1981_1982delinsTT (p.Asp661Phe)	indel	not provided [RCV003671339]	Chr5:138929327..138929328 [GRCh38] Chr5:138265016..138265017 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1063-4C>T	single nucleotide variant	not provided [RCV003674098]	Chr5:138886208 [GRCh38] Chr5:138221897 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1070G>T (p.Arg357Leu)	single nucleotide variant	not provided [RCV003560376]	Chr5:138886219 [GRCh38] Chr5:138221908 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.149_154del (p.Lys50_Lys51del)	deletion	not provided [RCV003725195]	Chr5:138783219..138783224 [GRCh38] Chr5:138118908..138118913 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2405del (p.Asn802fs)	deletion	not provided [RCV003560597]	Chr5:138932683 [GRCh38] Chr5:138268372 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2376C>T (p.Ile792=)	single nucleotide variant	not provided [RCV003580441]	Chr5:138932655 [GRCh38] Chr5:138268344 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2249C>T (p.Ala750Val)	single nucleotide variant	not provided [RCV003701387]	Chr5:138930886 [GRCh38] Chr5:138266575 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2010+8A>G	single nucleotide variant	not provided [RCV003668469]	Chr5:138929364 [GRCh38] Chr5:138265053 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-9C>G	single nucleotide variant	not provided [RCV003549993]	Chr5:138917733 [GRCh38] Chr5:138253422 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1591C>A (p.Gln531Lys)	single nucleotide variant	not provided [RCV003548627]	Chr5:138924554 [GRCh38] Chr5:138260243 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2011-13C>A	single nucleotide variant	not provided [RCV003548506]	Chr5:138930460 [GRCh38] Chr5:138266149 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1261C>G (p.Gln421Glu)	single nucleotide variant	not provided [RCV003664974]	Chr5:138887607 [GRCh38] Chr5:138223296 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+5G>T	single nucleotide variant	not provided [RCV003671171]	Chr5:138924715 [GRCh38] Chr5:138260404 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2706T>C (p.Ala902=)	single nucleotide variant	not provided [RCV003723773]	Chr5:138934074 [GRCh38] Chr5:138269763 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1067G>C (p.Gly356Ala)	single nucleotide variant	not provided [RCV003671792]	Chr5:138886216 [GRCh38] Chr5:138221905 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.490T>C (p.Leu164=)	single nucleotide variant	not provided [RCV003672231]	Chr5:138812204 [GRCh38] Chr5:138147893 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.990T>G (p.Arg330=)	single nucleotide variant	not provided [RCV003580440]	Chr5:138827646 [GRCh38] Chr5:138163335 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1700T>C (p.Val567Ala)	single nucleotide variant	not provided [RCV003716795]	Chr5:138924663 [GRCh38] Chr5:138260352 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2171T>A (p.Met724Lys)	single nucleotide variant	not provided [RCV003723702]	Chr5:138930633 [GRCh38] Chr5:138266322 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.468+4A>C	single nucleotide variant	not provided [RCV003716814]	Chr5:138810208 [GRCh38] Chr5:138145897 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.760G>A (p.Gly254Ser)	single nucleotide variant	not provided [RCV003724252]	Chr5:138824701 [GRCh38] Chr5:138160390 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1542C>G (p.Val514=)	single nucleotide variant	not provided [RCV003696865]	Chr5:138917894 [GRCh38] Chr5:138253583 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1357T>C (p.Ser453Pro)	single nucleotide variant	not provided [RCV003550129]	Chr5:138904409 [GRCh38] Chr5:138240098 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1278T>C (p.His426=)	single nucleotide variant	not provided [RCV003558879]	Chr5:138887624 [GRCh38] Chr5:138223313 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2352C>T (p.Ala784=)	single nucleotide variant	not provided [RCV003854751]	Chr5:138932631 [GRCh38] Chr5:138268320 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1436T>A (p.Leu479Gln)	single nucleotide variant	not provided [RCV003580896]	Chr5:138917788 [GRCh38] Chr5:138253477 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2318A>G (p.Lys773Arg)	single nucleotide variant	not provided [RCV003850717]	Chr5:138932597 [GRCh38] Chr5:138268286 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1778C>T (p.Ala593Val)	single nucleotide variant	not provided [RCV003717223]	Chr5:138925286 [GRCh38] Chr5:138260975 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1260C>G (p.Ala420=)	single nucleotide variant	not provided [RCV003560364]	Chr5:138887606 [GRCh38] Chr5:138223295 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1934C>T (p.Thr645Ile)	single nucleotide variant	not provided [RCV003666623]	Chr5:138929280 [GRCh38] Chr5:138264969 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2574A>T (p.Ser858=)	single nucleotide variant	not provided [RCV003704588]	Chr5:138933942 [GRCh38] Chr5:138269631 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2148C>T (p.Ala716=)	single nucleotide variant	not provided [RCV003858034]	Chr5:138930610 [GRCh38] Chr5:138266299 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1259C>A (p.Ala420Asp)	single nucleotide variant	not provided [RCV003706545]	Chr5:138887605 [GRCh38] Chr5:138223294 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.561G>A (p.Leu187=)	single nucleotide variant	not provided [RCV003551291]	Chr5:138812275 [GRCh38] Chr5:138147964 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2298+13C>T	single nucleotide variant	not provided [RCV003551207]	Chr5:138930948 [GRCh38] Chr5:138266637 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2289T>C (p.Ile763=)	single nucleotide variant	not provided [RCV003554240]	Chr5:138930926 [GRCh38] Chr5:138266615 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1143+20T>C	single nucleotide variant	not provided [RCV003865919]	Chr5:138886312 [GRCh38] Chr5:138222001 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-23_1297-17del	deletion	not provided [RCV003566317]	Chr5:138904323..138904329 [GRCh38] Chr5:138240012..138240018 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1416A>G (p.Ala472=)	single nucleotide variant	not provided [RCV003704191]	Chr5:138917768 [GRCh38] Chr5:138253457 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2172G>A (p.Met724Ile)	single nucleotide variant	not provided [RCV003680001]	Chr5:138930634 [GRCh38] Chr5:138266323 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-11T>C	single nucleotide variant	not provided [RCV003734567]	Chr5:138925245 [GRCh38] Chr5:138260934 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-4G>A	single nucleotide variant	not provided [RCV003704742]	Chr5:138917738 [GRCh38] Chr5:138253427 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+17_1546+18insA	insertion	not provided [RCV003568867]	Chr5:138917915..138917916 [GRCh38] Chr5:138253604..138253605 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-18G>A	single nucleotide variant	not provided [RCV003733773]	Chr5:138925238 [GRCh38] Chr5:138260927 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2150A>G (p.Lys717Arg)	single nucleotide variant	not provided [RCV003542655]	Chr5:138930612 [GRCh38] Chr5:138266301 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2168T>C (p.Met723Thr)	single nucleotide variant	not provided [RCV003733865]	Chr5:138930630 [GRCh38] Chr5:138266319 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.263A>G (p.Glu88Gly)	single nucleotide variant	not provided [RCV003567087]	Chr5:138783334 [GRCh38] Chr5:138119023 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1229A>C (p.Asn410Thr)	single nucleotide variant	not provided [RCV003677655]	Chr5:138887575 [GRCh38] Chr5:138223264 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1900-16T>G	single nucleotide variant	not provided [RCV003542084]	Chr5:138929230 [GRCh38] Chr5:138264919 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1385C>G (p.Pro462Arg)	single nucleotide variant	not provided [RCV003709291]	Chr5:138904437 [GRCh38] Chr5:138240126 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2358C>G (p.Tyr786Ter)	single nucleotide variant	not provided [RCV003563628]	Chr5:138932637 [GRCh38] Chr5:138268326 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1121A>C (p.Lys374Thr)	single nucleotide variant	not provided [RCV003678894]	Chr5:138886270 [GRCh38] Chr5:138221959 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.943G>A (p.Gly315Arg)	single nucleotide variant	not provided [RCV003681323]	Chr5:138827599 [GRCh38] Chr5:138163288 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-5C>T	single nucleotide variant	not provided [RCV003728604]	Chr5:138925251 [GRCh38] Chr5:138260940 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1546+9C>T	single nucleotide variant	not provided [RCV003682429]	Chr5:138917907 [GRCh38] Chr5:138253596 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2376C>G (p.Ile792Met)	single nucleotide variant	not provided [RCV003564345]	Chr5:138932655 [GRCh38] Chr5:138268344 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.881dup (p.Leu294fs)	duplication	not provided [RCV003678051]	Chr5:138827535..138827536 [GRCh38] Chr5:138163224..138163225 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2433+18A>G	single nucleotide variant	not provided [RCV003733317]	Chr5:138932730 [GRCh38] Chr5:138268419 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.517T>C (p.Leu173=)	single nucleotide variant	not provided [RCV003860792]	Chr5:138812231 [GRCh38] Chr5:138147920 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1390-9_1390-7del	deletion	not provided [RCV003562787]	Chr5:138917732..138917734 [GRCh38] Chr5:138253421..138253423 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2192+18C>T	single nucleotide variant	not provided [RCV003709820]	Chr5:138930672 [GRCh38] Chr5:138266361 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1028C>T (p.Ala343Val)	single nucleotide variant	not provided [RCV003705651]	Chr5:138827684 [GRCh38] Chr5:138163373 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.494G>A (p.Arg165Lys)	single nucleotide variant	not provided [RCV003680801]	Chr5:138812208 [GRCh38] Chr5:138147897 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1258G>C (p.Ala420Pro)	single nucleotide variant	not provided [RCV003542269]	Chr5:138887604 [GRCh38] Chr5:138223293 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1296+4_1296+12del	deletion	not provided [RCV003562905]	Chr5:138887644..138887652 [GRCh38] Chr5:138223333..138223341 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2303C>T (p.Pro768Leu)	single nucleotide variant	not provided [RCV003568551]	Chr5:138932582 [GRCh38] Chr5:138268271 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.302-13T>C	single nucleotide variant	not provided [RCV003703805]	Chr5:138810025 [GRCh38] Chr5:138145714 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.106-4T>G	single nucleotide variant	not provided [RCV003734744]	Chr5:138783173 [GRCh38] Chr5:138118862 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1516A>C (p.Thr506Pro)	single nucleotide variant	not provided [RCV003734772]	Chr5:138917868 [GRCh38] Chr5:138253557 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2304del (p.Asp769fs)	deletion	not provided [RCV003685136]	Chr5:138932580 [GRCh38] Chr5:138268269 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.859-8C>T	single nucleotide variant	not provided [RCV003555522]	Chr5:138827507 [GRCh38] Chr5:138163196 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-8C>G	single nucleotide variant	not provided [RCV003704944]	Chr5:138925248 [GRCh38] Chr5:138260937 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1445A>G (p.Glu482Gly)	single nucleotide variant	not provided [RCV003566240]	Chr5:138917797 [GRCh38] Chr5:138253486 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2293G>C (p.Asp765His)	single nucleotide variant	not provided [RCV003703890]	Chr5:138930930 [GRCh38] Chr5:138266619 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.33dup (p.Lys12fs)	duplication	not provided [RCV003680571]	Chr5:138781956..138781957 [GRCh38] Chr5:138117645..138117646 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2546T>C (p.Met849Thr)	single nucleotide variant	not provided [RCV003685677]	Chr5:138933914 [GRCh38] Chr5:138269603 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1038C>T (p.Asp346=)	single nucleotide variant	not provided [RCV003562419]	Chr5:138827694 [GRCh38] Chr5:138163383 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.204A>G (p.Ala68=)	single nucleotide variant	not provided [RCV003554019]	Chr5:138783275 [GRCh38] Chr5:138118964 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.60C>G (p.Ile20Met)	single nucleotide variant	not provided [RCV003737041]	Chr5:138781984 [GRCh38] Chr5:138117673 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1798T>G (p.Ser600Ala)	single nucleotide variant	not provided [RCV003677352]	Chr5:138925306 [GRCh38] Chr5:138260995 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1439C>A (p.Ala480Asp)	single nucleotide variant	not provided [RCV003686039]	Chr5:138917791 [GRCh38] Chr5:138253480 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.678_686del (p.Ala227_Leu229del)	deletion	not provided [RCV003681183]	Chr5:138824619..138824627 [GRCh38] Chr5:138160308..138160316 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.443A>G (p.Tyr148Cys)	single nucleotide variant	not provided [RCV003869560]	Chr5:138810179 [GRCh38] Chr5:138145868 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1546+5T>C	single nucleotide variant	not provided [RCV003686146]	Chr5:138917903 [GRCh38] Chr5:138253592 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.105+20_105+25del	deletion	not provided [RCV003554753]	Chr5:138782046..138782051 [GRCh38] Chr5:138117735..138117740 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.927G>C (p.Leu309=)	single nucleotide variant	not provided [RCV003677839]	Chr5:138827583 [GRCh38] Chr5:138163272 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1264G>A (p.Val422Ile)	single nucleotide variant	not provided [RCV003685259]	Chr5:138887610 [GRCh38] Chr5:138223299 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-9G>T	single nucleotide variant	not provided [RCV003737855]	Chr5:138933793 [GRCh38] Chr5:138269482 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1753C>G (p.Pro585Ala)	single nucleotide variant	not provided [RCV003848472]	Chr5:138925261 [GRCh38] Chr5:138260950 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.343C>A (p.Pro115Thr)	single nucleotide variant	not provided [RCV003718828]	Chr5:138810079 [GRCh38] Chr5:138145768 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2028T>C (p.Leu676=)	single nucleotide variant	not provided [RCV003685625]	Chr5:138930490 [GRCh38] Chr5:138266179 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1533C>T (p.Phe511=)	single nucleotide variant	not provided [RCV003718794]	Chr5:138917885 [GRCh38] Chr5:138253574 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.224A>G (p.Lys75Arg)	single nucleotide variant	not provided [RCV003737738]	Chr5:138783295 [GRCh38] Chr5:138118984 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1747+4C>A	single nucleotide variant	not provided [RCV003737888]	Chr5:138924714 [GRCh38] Chr5:138260403 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2475G>C (p.Leu825Phe)	single nucleotide variant	not provided [RCV003684838]	Chr5:138933843 [GRCh38] Chr5:138269532 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.565A>T (p.Ile189Phe)	single nucleotide variant	not provided [RCV003707327]	Chr5:138812279 [GRCh38] Chr5:138147968 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1389+19T>C	single nucleotide variant	not provided [RCV003567916]	Chr5:138904460 [GRCh38] Chr5:138240149 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.859-9dup	duplication	not provided [RCV003557246]	Chr5:138827503..138827504 [GRCh38] Chr5:138163192..138163193 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2402A>G (p.Gln801Arg)	single nucleotide variant	not provided [RCV003711439]	Chr5:138932681 [GRCh38] Chr5:138268370 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.106-3_106-2insCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAAACTTTT	microsatellite	not provided [RCV003683844]	Chr5:138783159..138783160 [GRCh38] Chr5:138118848..138118849 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1998C>T (p.Gly666=)	single nucleotide variant	not provided [RCV003721557]	Chr5:138929344 [GRCh38] Chr5:138265033 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1988T>A (p.Leu663Gln)	single nucleotide variant	not provided [RCV003721560]	Chr5:138929334 [GRCh38] Chr5:138265023 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1297-17A>T	single nucleotide variant	not provided [RCV003566318]	Chr5:138904332 [GRCh38] Chr5:138240021 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1297-10A>T	single nucleotide variant	not provided [RCV003566319]	Chr5:138904339 [GRCh38] Chr5:138240028 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.694C>T (p.Pro232Ser)	single nucleotide variant	not provided [RCV003868457]	Chr5:138824635 [GRCh38] Chr5:138160324 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1258G>A (p.Ala420Thr)	single nucleotide variant	not provided [RCV003680936]	Chr5:138887604 [GRCh38] Chr5:138223293 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1708G>C (p.Glu570Gln)	single nucleotide variant	not provided [RCV003568617]	Chr5:138924671 [GRCh38] Chr5:138260360 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.158G>A (p.Gly53Asp)	single nucleotide variant	not provided [RCV003568669]	Chr5:138783229 [GRCh38] Chr5:138118918 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2441dup (p.Ser814fs)	duplication	not provided [RCV003554421]	Chr5:138933808..138933809 [GRCh38] Chr5:138269497..138269498 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.219G>T (p.Leu73Phe)	single nucleotide variant	not provided [RCV003704222]	Chr5:138783290 [GRCh38] Chr5:138118979 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1313G>T (p.Cys438Phe)	single nucleotide variant	not provided [RCV003552453]	Chr5:138904365 [GRCh38] Chr5:138240054 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.836C>G (p.Ala279Gly)	single nucleotide variant	not provided [RCV003552480]	Chr5:138824777 [GRCh38] Chr5:138160466 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1007_1008del (p.Glu336fs)	microsatellite	not provided [RCV003722170]	Chr5:138827661..138827662 [GRCh38] Chr5:138163350..138163351 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.2576G>A (p.Trp859Ter)	single nucleotide variant	not provided [RCV003868926]	Chr5:138933944 [GRCh38] Chr5:138269633 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858+18G>A	single nucleotide variant	not provided [RCV003676469]	Chr5:138824817 [GRCh38] Chr5:138160506 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.858+17T>G	single nucleotide variant	not provided [RCV003704524]	Chr5:138824816 [GRCh38] Chr5:138160505 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.639C>A (p.Ile213=)	single nucleotide variant	not provided [RCV003735033]	Chr5:138824580 [GRCh38] Chr5:138160269 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1527T>G (p.Asp509Glu)	single nucleotide variant	not provided [RCV003681021]	Chr5:138917879 [GRCh38] Chr5:138253568 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.588+16G>A	single nucleotide variant	not provided [RCV003552955]	Chr5:138812318 [GRCh38] Chr5:138148007 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1664T>C (p.Val555Ala)	single nucleotide variant	not provided [RCV003704781]	Chr5:138924627 [GRCh38] Chr5:138260316 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1144-16A>C	single nucleotide variant	not provided [RCV003565972]	Chr5:138887474 [GRCh38] Chr5:138223163 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1853T>A (p.Val618Glu)	single nucleotide variant	not provided [RCV003708918]	Chr5:138925361 [GRCh38] Chr5:138261050 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2434-75_2434-14del	deletion	not provided [RCV003563438]	Chr5:138933722..138933783 [GRCh38] Chr5:138269411..138269472 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1144-15C>A	single nucleotide variant	not provided [RCV003706157]	Chr5:138887475 [GRCh38] Chr5:138223164 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1748-14C>T	single nucleotide variant	not provided [RCV003732447]	Chr5:138925242 [GRCh38] Chr5:138260931 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1628G>C (p.Gly543Ala)	single nucleotide variant	not provided [RCV003728241]	Chr5:138924591 [GRCh38] Chr5:138260280 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.289G>A (p.Val97Ile)	single nucleotide variant	not provided [RCV003709185]	Chr5:138783360 [GRCh38] Chr5:138119049 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.858+12T>C	single nucleotide variant	not provided [RCV003551329]	Chr5:138824811 [GRCh38] Chr5:138160500 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2294A>T (p.Asp765Val)	single nucleotide variant	not provided [RCV003709290]	Chr5:138930931 [GRCh38] Chr5:138266620 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1297-11dup	duplication	not provided [RCV003554587]	Chr5:138904332..138904333 [GRCh38] Chr5:138240021..138240022 [GRCh37] Chr5:5q31.2	benign
NM_001903.5(CTNNA1):c.2656_2674dup (p.Asn892fs)	duplication	not provided [RCV003706349]	Chr5:138934022..138934023 [GRCh38] Chr5:138269711..138269712 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1062+5G>A	single nucleotide variant	not provided [RCV003706368]	Chr5:138827723 [GRCh38] Chr5:138163412 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.997A>C (p.Ile333Leu)	single nucleotide variant	not provided [RCV003550342]	Chr5:138827653 [GRCh38] Chr5:138163342 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2097T>A (p.Asp699Glu)	single nucleotide variant	not provided [RCV003709434]	Chr5:138930559 [GRCh38] Chr5:138266248 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2594A>G (p.Glu865Gly)	single nucleotide variant	not provided [RCV003678384]	Chr5:138933962 [GRCh38] Chr5:138269651 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1592A>G (p.Gln531Arg)	single nucleotide variant	not provided [RCV003542770]	Chr5:138924555 [GRCh38] Chr5:138260244 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2222A>C (p.Asp741Ala)	single nucleotide variant	not provided [RCV003677230]	Chr5:138930859 [GRCh38] Chr5:138266548 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1748-6C>A	single nucleotide variant	not provided [RCV003554770]	Chr5:138925250 [GRCh38] Chr5:138260939 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.749A>G (p.Gln250Arg)	single nucleotide variant	not provided [RCV003821263]	Chr5:138824690 [GRCh38] Chr5:138160379 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.311T>G (p.Met104Arg)	single nucleotide variant	not provided [RCV003680730]	Chr5:138810047 [GRCh38] Chr5:138145736 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1288T>C (p.Leu430=)	single nucleotide variant	not provided [RCV003554969]	Chr5:138887634 [GRCh38] Chr5:138223323 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.1507G>A (p.Asp503Asn)	single nucleotide variant	not provided [RCV003554859]	Chr5:138917859 [GRCh38] Chr5:138253548 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1898G>A (p.Arg633Lys)	single nucleotide variant	not provided [RCV003704336]	Chr5:138925406 [GRCh38] Chr5:138261095 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.787G>A (p.Ala263Thr)	single nucleotide variant	not provided [RCV003704337]	Chr5:138824728 [GRCh38] Chr5:138160417 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1790C>A (p.Ala597Asp)	single nucleotide variant	not provided [RCV003677680]	Chr5:138925298 [GRCh38] Chr5:138260987 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1885G>T (p.Val629Leu)	single nucleotide variant	not provided [RCV003568159]	Chr5:138925393 [GRCh38] Chr5:138261082 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1111dup (p.Met371fs)	duplication	not provided [RCV003733299]	Chr5:138886256..138886257 [GRCh38] Chr5:138221945..138221946 [GRCh37] Chr5:5q31.2	pathogenic
NM_001903.5(CTNNA1):c.1950C>T (p.Val650=)	single nucleotide variant	not provided [RCV003858905]	Chr5:138929296 [GRCh38] Chr5:138264985 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.33C>A (p.Phe11Leu)	single nucleotide variant	not provided [RCV003541898]	Chr5:138781957 [GRCh38] Chr5:138117646 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.761G>A (p.Gly254Asp)	single nucleotide variant	not provided [RCV003541942]	Chr5:138824702 [GRCh38] Chr5:138160391 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.471G>A (p.Val157=)	single nucleotide variant	not provided [RCV003677852]	Chr5:138812185 [GRCh38] Chr5:138147874 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.304G>A (p.Asp102Asn)	single nucleotide variant	not provided [RCV003568332]	Chr5:138810040 [GRCh38] Chr5:138145729 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.1657A>T (p.Ile553Phe)	single nucleotide variant	not provided [RCV003554173]	Chr5:138924620 [GRCh38] Chr5:138260309 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.2056G>A (p.Glu686Lys)	single nucleotide variant	not provided [RCV003711181]	Chr5:138930518 [GRCh38] Chr5:138266207 [GRCh37] Chr5:5q31.2	uncertain significance
NM_001903.5(CTNNA1):c.186T>G (p.Ala62=)	single nucleotide variant	not provided [RCV003562988]	Chr5:138783257 [GRCh38] Chr5:138118946 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+220T>G	single nucleotide variant	CTNNA1-related condition [RCV003894325]	Chr5:138932932 [GRCh38] Chr5:138268621 [GRCh37] Chr5:5q31.2	likely benign
NM_001903.5(CTNNA1):c.2433+215_2433+218del	deletion	CTNNA1-related condition [RCV003896791]	Chr5:138932924..138932927 [GRCh38] Chr5:138268613..138268616 [GRCh37] Chr5:5q31.2	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	7625
Count of miRNA genes:	1326
Interacting mature miRNAs:	1745
Transcripts:	ENST00000302763, ENST00000355078, ENST00000517533, ENST00000517534, ENST00000517656, ENST00000517904, ENST00000517980, ENST00000518263, ENST00000518381, ENST00000518585, ENST00000518825, ENST00000518910, ENST00000518919, ENST00000519113, ENST00000519116, ENST00000519309, ENST00000519489, ENST00000519634, ENST00000519768, ENST00000520158, ENST00000520260, ENST00000520339, ENST00000520400, ENST00000520520, ENST00000520522, ENST00000520865, ENST00000521368, ENST00000521387, ENST00000521640, ENST00000521683, ENST00000521724, ENST00000521941, ENST00000522013, ENST00000522052, ENST00000522227, ENST00000522730, ENST00000522792, ENST00000523275, ENST00000523298, ENST00000523685, ENST00000523912, ENST00000524127, ENST00000524292, ENST00000540387
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

WI-17966

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,204,641 - 138,204,768	UniSTS	GRCh37
Build 36	5	138,232,540 - 138,232,667	RGD	NCBI36
Celera	5	134,326,421 - 134,326,548	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,394,429 - 133,394,556	UniSTS
GeneMap99-GB4 RH Map	5	526.62	UniSTS
Whitehead-RH Map	5	435.6	UniSTS

SHGC-13050

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,166,473 - 138,166,569	UniSTS	GRCh37
Build 36	5	138,194,372 - 138,194,468	RGD	NCBI36
Celera	5	134,288,254 - 134,288,350	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,356,254 - 133,356,350	UniSTS
Stanford-G3 RH Map	5	5198.0	UniSTS

RH91185

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,205,109 - 138,205,280	UniSTS	GRCh37
Build 36	5	138,233,008 - 138,233,179	RGD	NCBI36
Celera	5	134,326,890 - 134,327,061	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,394,898 - 133,395,069	UniSTS
GeneMap99-GB4 RH Map	5	526.62	UniSTS

SHGC-149332

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,097,986 - 138,098,287	UniSTS	GRCh37
Build 36	5	138,125,885 - 138,126,186	RGD	NCBI36
Celera	5	134,219,836 - 134,220,138	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,287,863 - 133,288,164	UniSTS
TNG Radiation Hybrid Map	5	79286.0	UniSTS

SHGC-36193

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,269,875 - 138,269,974	UniSTS	GRCh37
Build 36	5	138,297,774 - 138,297,873	RGD	NCBI36
Celera	5	134,391,647 - 134,391,746	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,459,670 - 133,459,769	UniSTS
Stanford-G3 RH Map	5	5153.0	UniSTS
GeneMap99-G3 RH Map	5	5241.0	UniSTS

bac5237S

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,191,309 - 138,191,469	UniSTS	GRCh37
Build 36	5	138,219,208 - 138,219,368	RGD	NCBI36
Celera	5	134,313,090 - 134,313,250	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,381,097 - 133,381,257	UniSTS

bac5253S

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,175,999 - 138,176,320	UniSTS	GRCh37
Build 36	5	138,203,898 - 138,204,219	RGD	NCBI36
Celera	5	134,297,780 - 134,298,101	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,365,787 - 133,366,108	UniSTS

SHGC-145669

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,155,307 - 138,155,440	UniSTS	GRCh37
Build 36	5	138,183,206 - 138,183,339	RGD	NCBI36
Celera	5	134,277,081 - 134,277,214	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,345,076 - 133,345,209	UniSTS
TNG Radiation Hybrid Map	5	79341.0	UniSTS

RH16367

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,202,840 - 138,203,007	UniSTS	GRCh37
Build 36	5	138,230,739 - 138,230,906	RGD	NCBI36
Celera	5	134,324,621 - 134,324,788	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,392,629 - 133,392,796	UniSTS
GeneMap99-GB4 RH Map	5	524.54	UniSTS

RH11437

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	114,724,909 - 114,725,085	UniSTS	GRCh37
GRCh37	5	138,270,024 - 138,270,208	UniSTS	GRCh37
Build 36	5	114,752,808 - 114,752,984	RGD	NCBI36
Celera	5	110,673,396 - 110,673,572	RGD
Celera	5	134,391,796 - 134,391,980	UniSTS
Cytogenetic Map	5	q22	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,459,819 - 133,460,003	UniSTS
GeneMap99-GB4 RH Map	5	524.54	UniSTS

G17002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,199,328 - 138,199,549	UniSTS	GRCh37
Build 36	5	138,227,227 - 138,227,448	RGD	NCBI36
Celera	5	134,321,109 - 134,321,330	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,389,116 - 133,389,337	UniSTS

SHGC-2340

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,205,105 - 138,205,300	UniSTS	GRCh37
Build 36	5	138,233,004 - 138,233,199	RGD	NCBI36
Celera	5	134,326,886 - 134,327,081	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,394,894 - 133,395,089	UniSTS
GeneMap99-G3 RH Map	5	5131.0	UniSTS

RH70257

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,270,080 - 138,270,213	UniSTS	GRCh37
Build 36	5	138,297,979 - 138,298,112	RGD	NCBI36
Celera	5	134,391,852 - 134,391,985	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,459,875 - 133,460,008	UniSTS
GeneMap99-GB4 RH Map	5	524.54	UniSTS

D5S1856

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,205,082 - 138,205,381	UniSTS	GRCh37
Build 36	5	138,232,981 - 138,233,280	RGD	NCBI36
Celera	5	134,326,863 - 134,327,162	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,394,871 - 133,395,170	UniSTS

G29950

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,270,516 - 138,270,717	UniSTS	GRCh37
Build 36	5	138,298,415 - 138,298,616	RGD	NCBI36
Celera	5	134,392,291 - 134,392,488	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,460,314 - 133,460,511	UniSTS

RH36132

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,264,890 - 138,264,997	UniSTS	GRCh37
Build 36	5	138,292,789 - 138,292,896	RGD	NCBI36
Celera	5	134,386,662 - 134,386,769	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,454,685 - 133,454,792	UniSTS
GeneMap99-GB4 RH Map	5	524.54	UniSTS

A002T30

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,205,217 - 138,205,367	UniSTS	GRCh37
Build 36	5	138,233,116 - 138,233,266	RGD	NCBI36
Celera	5	134,326,998 - 134,327,148	RGD
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	133,395,006 - 133,395,156	UniSTS
GeneMap99-GB4 RH Map	5	524.54	UniSTS

MARC_13807-13808:1006870442:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	138,209,476 - 138,209,875	UniSTS	GRCh37
Build 36	5	138,237,375 - 138,237,774	RGD	NCBI36
Celera	5	134,331,245 - 134,331,644	RGD
HuRef	5	133,399,255 - 133,399,654	UniSTS

D5S517E

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q31.2	UniSTS
HuRef	5	109,908,467 - 109,908,600	UniSTS

STS-AA026630

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q31.2	UniSTS
GeneMap99-GB4 RH Map	5	474.4	UniSTS

GDB:591091

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q31.2	UniSTS

D5S2430

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q31.2	UniSTS
Whitehead-YAC Contig Map	5		UniSTS

Lrrtm2

Human Assembly	Chr	Position (strand)	Source	JBrowse
HuRef	5	133,398,920 - 133,399,557	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

2430

2900

1713

614

1841

456

4354

2178

3719

416

1446

1602

173

1204

2788

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_047029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001290307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001290309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001290310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001290312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323991	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001324013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054351718	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC034243	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH007112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI078507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU141929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY884207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU624488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D13866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D14705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA349847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC332608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC369291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ900929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HQ589335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L22080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L23805	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U03100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000302763 ⟹ ENSP00000304669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,425 - 138,935,034 (+)	Ensembl

RefSeq Acc Id:

ENST00000517533 ⟹ ENSP00000431118

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,433 - 138,917,819 (+)	Ensembl

RefSeq Acc Id:

ENST00000517534

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,827,627 - 138,887,732 (+)	Ensembl

RefSeq Acc Id:

ENST00000517656 ⟹ ENSP00000430177

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,440 - 138,887,574 (+)	Ensembl

RefSeq Acc Id:

ENST00000517904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,886,229 - 138,904,792 (+)	Ensembl

RefSeq Acc Id:

ENST00000517980 ⟹ ENSP00000428439

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,610,967 - 138,810,089 (+)	Ensembl

RefSeq Acc Id:

ENST00000518263

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,435 - 138,881,138 (+)	Ensembl

RefSeq Acc Id:

ENST00000518381 ⟹ ENSP00000429738

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,874,038 - 138,904,387 (+)	Ensembl

RefSeq Acc Id:

ENST00000518585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,790,926 - 138,824,692 (+)	Ensembl

RefSeq Acc Id:

ENST00000518825 ⟹ ENSP00000427821

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,781,923 - 138,934,831 (+)	Ensembl

RefSeq Acc Id:

ENST00000518910 ⟹ ENSP00000430626

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,431 - 138,824,734 (+)	Ensembl

RefSeq Acc Id:

ENST00000518919

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,811,959 - 138,824,683 (+)	Ensembl

RefSeq Acc Id:

ENST00000519113 ⟹ ENSP00000430078

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,661 - 138,810,155 (+)	Ensembl

RefSeq Acc Id:

ENST00000519116 ⟹ ENSP00000428894

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,464 - 138,904,437 (+)	Ensembl

RefSeq Acc Id:

ENST00000519309 ⟹ ENSP00000430671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,446 - 138,824,629 (+)	Ensembl

RefSeq Acc Id:

ENST00000519489

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,924,589 - 138,925,491 (+)	Ensembl

RefSeq Acc Id:

ENST00000519634 ⟹ ENSP00000428088

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,433 - 138,887,608 (+)	Ensembl

RefSeq Acc Id:

ENST00000519768 ⟹ ENSP00000429103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,437 - 138,887,517 (+)	Ensembl

RefSeq Acc Id:

ENST00000520158 ⟹ ENSP00000429457

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,754,369 - 138,824,588 (+)	Ensembl

RefSeq Acc Id:

ENST00000520260 ⟹ ENSP00000429569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,266 - 138,887,552 (+)	Ensembl

RefSeq Acc Id:

ENST00000520339 ⟹ ENSP00000428202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,418 - 138,783,374 (+)	Ensembl

RefSeq Acc Id:

ENST00000520400

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,870,275 - 138,917,818 (+)	Ensembl

RefSeq Acc Id:

ENST00000520520 ⟹ ENSP00000430076

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,930,638 - 138,934,162 (+)	Ensembl

RefSeq Acc Id:

ENST00000520522 ⟹ ENSP00000428710

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,880,195 - 138,887,608 (+)	Ensembl

RefSeq Acc Id:

ENST00000520865 ⟹ ENSP00000430841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,432 - 138,887,566 (+)	Ensembl

RefSeq Acc Id:

ENST00000521368 ⟹ ENSP00000428686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,904,399 - 138,930,509 (+)	Ensembl

RefSeq Acc Id:

ENST00000521387

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,924,530 - 138,931,074 (+)	Ensembl

RefSeq Acc Id:

ENST00000521640 ⟹ ENSP00000430623

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,443 - 138,887,578 (+)	Ensembl

RefSeq Acc Id:

ENST00000521683 ⟹ ENSP00000430981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,440 - 138,904,375 (+)	Ensembl

RefSeq Acc Id:

ENST00000521724 ⟹ ENSP00000431033

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,421 - 138,934,213 (+)	Ensembl

RefSeq Acc Id:

ENST00000521941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,445 - 138,762,098 (+)	Ensembl

RefSeq Acc Id:

ENST00000522013 ⟹ ENSP00000430379

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,230 - 138,917,779 (+)	Ensembl

RefSeq Acc Id:

ENST00000522052 ⟹ ENSP00000482738

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,488 - 138,917,854 (+)	Ensembl

RefSeq Acc Id:

ENST00000522227 ⟹ ENSP00000429636

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,610,978 - 138,810,105 (+)	Ensembl

RefSeq Acc Id:

ENST00000522730

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,824,768 - 138,828,232 (+)	Ensembl

RefSeq Acc Id:

ENST00000522792

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,931,901 - 138,935,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000523275 ⟹ ENSP00000429142

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,824,677 - 138,887,521 (+)	Ensembl

RefSeq Acc Id:

ENST00000523298 ⟹ ENSP00000428044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,400 - 138,917,793 (+)	Ensembl

RefSeq Acc Id:

ENST00000523685 ⟹ ENSP00000430240

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,433 - 138,917,847 (+)	Ensembl

RefSeq Acc Id:

ENST00000523912 ⟹ ENSP00000430304

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,097 - 138,810,204 (+)	Ensembl

RefSeq Acc Id:

ENST00000524127 ⟹ ENSP00000428049

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,663,837 - 138,783,353 (+)	Ensembl

RefSeq Acc Id:

ENST00000524292

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,399 - 138,881,106 (+)	Ensembl

RefSeq Acc Id:

ENST00000540387 ⟹ ENSP00000438476

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,875,653 - 138,935,028 (+)	Ensembl

RefSeq Acc Id:

ENST00000627109 ⟹ ENSP00000486200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	138,753,418 - 138,935,033 (+)	Ensembl

RefSeq Acc Id:

NM_001290307 ⟹ NP_001277236

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGG
ATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACA
GGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAG
AAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATA
AAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGGCTGCTGTAGAAGATGTTCGAAA
ACAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGATCCCTGCTCTTCTGTGAAG
CGAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTACCCGGTTGCTGATTTTGG
CTGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGTGGAAGATGGTATCTTGAA
GTTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAAGCCCTAAAACCTGAAGTG
GATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAGATGTTGGCCATCGTGATC
AGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCTCTATACTGCATCCCAGGC
ATGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGACCTGATATACAAGCAGCTG
CAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCTCAGACGATGCCTCACAGC
ACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTTTGACAAACAAATCATTGT
GGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATC
ATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTG
TGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGC
TGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGG
GACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCA
ATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTA
TGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATC
TCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTC
CTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAA
CATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGAC
ATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAAT
GTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGG
CCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTAC
ACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGC
AAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTT
TATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATA
AGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGA
CGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCA
GCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGC
AAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGC
AGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATAC
ATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGC
CGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAAC
GCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCT
CGGCGGGGAGCTTGTTGTCTCTGGGAACTGTGACACCTGCGGGGCACTGCAAGGGCTGAAAGGC
TGGCCTCCTCCCCTTTGCTGGCCACTCACTGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGC
CAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATAC
CAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAG
AGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATC
TCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAA
GTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTC
AAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAG
TCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGA
GCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAAT
CCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGG
CGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCT
TGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTC
CCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATG
TATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTAC
TAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCAT
AATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCAC
TTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTT
GCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTAC
TATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTT
TTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001290309 ⟹ NP_001277238

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGG
ATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACA
GGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGATCCCTGCTCTTCTGTGAAGCGAG
GCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTACCCGGTTGCTGATTTTGGCTGA
CATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGTGGAAGATGGTATCTTGAAGTTG
AGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAAGCCCTAAAACCTGAAGTGGATA
AGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAGATGTTGGCCATCGTGATCAGAT
GGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCTCTATACTGCATCCCAGGCATGC
CTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGACCTGATATACAAGCAGCTGCAGC
AGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCTCAGACGATGCCTCACAGCACCA
GGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTTTGACAAACAAATCATTGTGGAC
CCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATCATTA
GTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTGTGGC
AGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGCTGGA
CGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACT
TGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGT
TCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCC
CAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAA
ATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCA
GGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATG
GATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTA
CTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGT
CATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGG
GCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAG
AGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGT
AGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATC
GATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGA
CCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAG
CGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTT
CCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGC
TGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGAT
GTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCG
GATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCA
CCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCAT
CGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGC
GGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGA
TGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACA
GGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCA
TTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGC
ACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGG
CCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTG
CTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTG
AATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTA
GCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGC
TTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTT
GAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTT
AAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGG
CATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGA
AAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCT
GCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACAC
ACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACT
GCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGT
AATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACA
AGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAAC
TAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001290310 ⟹ NP_001277239

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGG
ATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACA
GGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAG
AAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACATGGTTCGGGCAGCTCGAGCTTTGCT
CTCTGCTGTTACCCGGTTGCTGATTTTGGCTGACATGGCAGATGTCTACAAATTACTTGTTCAG
CTGAAAGTTGTGGAAGATGGTATCTTGAAGTTGAGGAATGCTGGCAATGAACAAGACTTAGGAA
TCCAGTATAAAGCCCTAAAACCTGAAGTGGATAAGCTGAACATTATGGCAGCCAAAAGACAACA
GGAATTGAAAGATGTTGGCCATCGTGATCAGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAAC
GTTCCGATCCTCTATACTGCATCCCAGGCATGCCTACAGCACCCTGATGTCGCAGCCTATAAGG
CCAACAGGGACCTGATATACAAGCAGCTGCAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCA
GGCCACTGCCTCAGACGATGCCTCACAGCACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCA
CTCAATAACTTTGACAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGC
CTTCCCTGGAGGAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTG
CACGCGTGATGACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAG
GACCTGCTTTCGGAGTACATGGGCAATGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTG
CAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGA
CCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAG
AATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGA
TTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAAT
GTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCA
AAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAG
TCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGA
GAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGC
CTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAG
AGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTC
CAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGAC
CCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCC
GGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGA
GACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCT
GGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAAC
AGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAG
TGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTT
ACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTG
AGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTG
CAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGC
AGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCG
CCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATC
CTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTG
TCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACAC
AGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTT
CAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAA
TATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAG
GGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTA
AAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATA
AAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATG
CCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTG
AGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAAC
CTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAA
ACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAAT
TTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTA
GGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAAT
GCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGA
AAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTG
TAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATT
TTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAAC
CACGACA

hide sequence

RefSeq Acc Id:

NM_001290312 ⟹ NP_001277241

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGCT
GGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGG
ACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAA
TGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTAT
GCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCT
CAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCC
TCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAAC
ATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACA
TTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATG
TGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGC
CGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACA
CAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCA
AGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTT
ATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAA
GGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGAC
GAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAG
CTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCA
AGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCA
GATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACA
TCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCC
GCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACG
CATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTC
GGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACT
TGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTC
ACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAG
CCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGA
AGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCC
AGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAAT
TTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTG
GTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTT
CTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATT
AGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGG
TTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCT
TTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGA
AGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGA
AGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTAC
GCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAA
CACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATA
ACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGC
AGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACT
ACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACT
AACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001323982 ⟹ NP_001310911

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGGAAGAATGAAGAATGAGTGTAGGAGTTACCTATAGTTTCTGC
CTAATTATTTACCAATCTGGACTTTTGAACAAACATTTTTTTTAAAGACGGGGTCTCCGTCGCC
CGGGCTGGAGCGCAGTGACACGATCATGACTCACTGCGGCTTCTGTCTCCTGGGCTCAAGTGAT
CCCCCCACCTCGGCTTCCGAAGTAGTTGGGACTACAGGCACGCGCCACCACATCCGTCTAATTT
TTGTATTTTTGGTAGAGATGGTGTCTCGCTGTCTTGCCCAAGCTGGTCTCGAACTCCTGGGCTC
AAGTGGTCCTCCTGCCTCAGCCTCCCAAAGTGTTGTGATTACAGGCCTGAGCCAGGGTGCCTGA
CCCCATCTGGATATTTATTCAGCGAAAGAATAATTTTTTAATCCACCTAAGAGCTCACAGTGTA
ATAGGGGAGACACACACCCCAGGTGTAGTACAGAGCGGACTGCAAAATGACTGCTGTCCATGCA
GGCAACATAAACTTCAAGTGGGATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGAC
TGTTGGAGCCTCTTGTTACACAGGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAA
TAAGAAGAGAGGTCGTTCTAAGAAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAG
AATTTCTTGGAGAAGGGGGATAAAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGG
CTGCTGTAGAAGATGTTCGAAAACAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGA
TGATCCCTGCTCTTCTGTGAAGCGAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCT
GTTACCCGGTTGCTGATTTTGGCTGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAG
TTGTGGAAGATGGTATCTTGAAGTTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTA
TAAAGCCCTAAAACCTGAAGTGGATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTG
AAAGATGTTGGCCATCGTGATCAGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGA
TCCTCTATACTGCATCCCAGGCATGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAG
GGACCTGATATACAAGCAGCTGCAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACT
GCCTCAGACGATGCCTCACAGCACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATA
ACTTTGACAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCT
GGAGGAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGT
GATGACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGC
TTTCGGAGTACATGGGCAATGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGA
TAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTT
TCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAA
ATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGT
TGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCA
AGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCAC
AGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGT
TCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCAC
ATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACC
GCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGA
CAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACA
GTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCC
AGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACAT
CAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAA
GATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGA
GTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGC
CAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAAT
GACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAG
GTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGG
ATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAG
GACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGG
TCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTC
CCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTC
GCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGA
AGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAA
GATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCT
ATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGT
CACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATG
GGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGC
TTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTC
ATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTC
TCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGT
GCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCA
TCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACT
CAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATG
CATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACA
GTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATT
CATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCT
GACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGAT
TGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAA
TTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323983 ⟹ NP_001310912

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,822 - 138,935,034 (+)	NCBI
CHM1_1	5	137,522,166 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,280,017 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GTTTCCTCTTGGAAAAGTTTTCTCGCGGTTTCCAAACTTTGTTACCGCGGCCTCGGCGCGCGCG
GCAGCCCCGCGCCGGGCCCCTCGGCCGCCTTCCTTCCCTGGGGCGGCTTGTCTGGGAGCCGCTT
TCCCGGGAAGTGATTGTCGTCCGGCTCCGAGGCGTTCCTGCCCCCTCCCCCTTCCCGGCCGCTG
AGACTTCCCGATGGGGCGGCGGGGACGCGGGCTCGGCGAACCGGGAGGCTGGAGCCCGGGCTTC
TCCCATACAGCTTCGCCGTAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGGA
TCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACAG
GTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAGA
AGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATAA
AATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGGCTGCTGTAGAAGATGTTCGAAAA
CAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGATCCCTGCTCTTCTGTGAAGC
GAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTACCCGGTTGCTGATTTTGGC
TGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGTGGAAGATGGTATCTTGAAG
TTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAAGCCCTAAAACCTGAAGTGG
ATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAGATGTTGGCCATCGTGATCA
GATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCTCTATACTGCATCCCAGGCA
TGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGACCTGATATACAAGCAGCTGC
AGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCTCAGACGATGCCTCACAGCA
CCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTTTGACAAACAAATCATTGTG
GACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATCA
TTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTGT
GGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGCT
GGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGG
ACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAA
TGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTAT
GCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCT
CAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCC
TCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAAC
ATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACA
TTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATG
TGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGC
CGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACA
CAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCA
AGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTT
ATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAA
GGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGAC
GAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAG
CTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCA
AGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCA
GATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACA
TCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCC
GCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACG
CATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTC
GGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACT
TGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTC
ACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAG
CCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGA
AGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCC
AGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAAT
TTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTG
GTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTT
CTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATT
AGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGG
TTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCT
TTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGA
AGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGA
AGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTAC
GCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAA
CACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATA
ACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGC
AGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACT
ACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACT
AACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323984 ⟹ NP_001310913

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGGAAGAATGAAGAATGAGTAAATGACTGCTGTCCATGCAGGCA
ACATAAACTTCAAGTGGGATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTT
GGAGCCTCTTGTTACACAGGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAG
AAGAGAGGTCGTTCTAAGAAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATT
TCTTGGAGAAGGGGGATAAAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGGCTGC
TGTAGAAGATGTTCGAAAACAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGAT
CCCTGCTCTTCTGTGAAGCGAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTA
CCCGGTTGCTGATTTTGGCTGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGT
GGAAGATGGTATCTTGAAGTTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAA
GCCCTAAAACCTGAAGTGGATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAG
ATGTTGGCCATCGTGATCAGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCT
CTATACTGCATCCCAGGCATGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGAC
CTGATATACAAGCAGCTGCAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCT
CAGACGATGCCTCACAGCACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTT
TGACAAACAAATCATTGTGGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAG
GAGCGTCTGGAAAGCATCATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATG
ACCGTCGTGAGCGAATTGTGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTC
GGAGTACATGGGCAATGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAA
ATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAG
ATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGA
GAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCC
AACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCC
AGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAG
TAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTC
ACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTT
TGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCAC
AGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAAC
TATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCA
TGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCC
CATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGG
AAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATT
TTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGC
CCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGC
TTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACA
TCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAA
AGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCC
AGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACC
TGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAA
GGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTG
ATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCT
CTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGAT
GAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATT
AAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGG
ACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACT
GTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCA
GACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTT
AGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAA
CCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTT
AGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAG
TCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTT
AGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGT
AAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATT
GTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGT
CTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATC
ATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACA
ACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGAT
TGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAA
TTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323985 ⟹ NP_001310914

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGG
ATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACA
GGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAG
AAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATA
AAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGGCTGCTGTAGAAGATGTTCGAAA
ACAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGATCCCTGCTCTTCTGTGAAG
CGAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTACCCGGTTGCTGATTTTGG
CTGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGTGGAAGATGGTATCTTGAA
GTTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAAGCCCTAAAACCTGAAGTG
GATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAGATGTTGGCCATCGTGATC
AGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCTCTATACTGCATCCCAGGC
ATGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGACCTGATATACAAGCAGCTG
CAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCTCAGACGATGCCTCACAGC
ACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTTTGACAAACAAATCATTGT
GGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATC
ATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTG
TGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGC
TGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGG
GACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCA
ATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTA
TGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATC
TCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTC
CTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAA
CATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGAC
ATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAAT
GTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGG
CCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTAC
ACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGC
AAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTT
TATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATA
AGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGA
CGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCA
GCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGC
AAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGC
AGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATAC
ATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGC
CGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAAC
GCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCT
CGGCGGGGAGCTTGTTGTCTCTGGGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTG
AAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTC
CTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGA
TGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTC
AGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGG
CTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGA
TTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAA
GTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAA
TAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAG
CCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAAC
TTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGG
TAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGG
AGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAA
ATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTG
CTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAG
CTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTT
GCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGT
GATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTA
TTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCAC
TATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323986 ⟹ NP_001310915

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGG
ATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACA
GGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAG
AAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATA
AAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGGCTGCTGTAGAAGATGTTCGAAA
ACAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGATCCCTGCTCTTCTGTGAAG
CGAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTACCCGGTTGCTGATTTTGG
CTGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGTGGAAGATGGTATCTTGAA
GTTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAAGCCCTAAAACCTGAAGTG
GATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAGATGTTGGCCATCGTGATC
AGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCTCTATACTGCATCCCAGGC
ATGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGACCTGATATACAAGCAGCTG
CAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCTCAGACGATGCCTCACAGC
ACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTTTGACAAACAAATCATTGT
GGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATC
ATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTG
TGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGC
TGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGG
GACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCA
ATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTA
TGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTATTAATGCTGCACTGGCTTTA
GCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAA
AACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGT
CTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTG
GATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCA
CCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCT
GCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGC
TCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATG
GCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGA
CTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTG
ATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTG
CGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGA
CGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACA
GACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAA
TTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTC
GGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAAC
ATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGG
ACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAA
GGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCT
GCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATG
AGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAG
CGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCT
CCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATT
CCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGT
TGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATA
AAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCC
GAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTT
CAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTA
AGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAG
GGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAAT
GAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCT
TTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCT
TCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGC
AGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGA
TTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATT
TAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTA
TGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323987 ⟹ NP_001310916

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGA
AGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCT
GGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTT
AAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCT
GTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGC
CCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCC
CAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTG
TCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGT
GAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCA
ATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAG
GAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTT
TACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAG
AATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGC
TGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAG
AAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATC
ATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAG
AAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCT
GGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTC
AAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACA
AGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTA
CCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTG
CAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAG
CCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATA
CCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCA
GAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCAT
CTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTA
AGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACT
CAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCA
GTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGG
AGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAA
TCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCG
GCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGC
TTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGT
CCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAAT
GTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTA
CTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCA
TAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCA
CTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTT
TGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTA
CTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTT
TTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323988 ⟹ NP_001310917

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAACAAGGTCTCACTGTGTTGCCCAGGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCA
TTGATCTCCCTCCTTAGCCTCCCAGATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAG
AAAGCTGTTTGCACAGGATAGAATTAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGT
TGATTCCTCCTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGC
TGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGG
GACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCA
ATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTA
TGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATC
TCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTC
CTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAA
CATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGAC
ATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAAT
GTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGG
CCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTAC
ACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGC
AAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTT
TATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATA
AGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGA
CGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCA
GCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGC
AAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGC
AGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATAC
ATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGC
CGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAAC
GCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCT
CGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAAC
TTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGT
CACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAA
GCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAG
AAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCC
CAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAA
TTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGT
GGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACT
TCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACAT
TAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGG
GTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGC
TTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAG
AAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATG
AAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTA
CGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGA
ACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAAT
AACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGG
CAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAAC
TACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACAC
TAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323989 ⟹ NP_001310918

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACACAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATT
GCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGC
ACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAA
GCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTG
AAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGC
CAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAG
CTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGG
CTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATG
GGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTG
GCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGG
ATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGT
AGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACT
AAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCC
TCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATA
TGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGAC
TCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATC
AGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAA
GATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAA
TGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGA
TGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAA
GAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCC
GACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGC
TGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGG
GGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACA
GTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACC
TTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACA
GGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCC
CTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCG
GGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACT
AGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTT
TAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTT
AAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACC
AAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTC
AACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTG
TGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTC
TGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACAT
GAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAG
TTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCC
CAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGG
CTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATT
TGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACC
TTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTC
CACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323990 ⟹ NP_001310919

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGATG
GCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAATTAAGAGCAGCATGTCAGCAT
TCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAG
GCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATA
AAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTC
AGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAAT
GAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTG
CCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAG
CCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAG
AGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTC
TCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACAT
TTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGC
ACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACA
ACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGT
CATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAG
CCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCA
GGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGA
TTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGT
GCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCA
GCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGA
CATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGT
AAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGAT
CCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGA
CCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTC
AAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCC
TGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGC
CTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAG
ATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGA
TTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTAT
GGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCA
CTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGG
CAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTT
TTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCAT
AACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTC
TTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGC
AGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATC
TTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCA
GTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCA
TTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGT
GTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCA
TCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGA
CAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTG
ATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATT
AATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323991 ⟹ NP_001310920

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGCAG
CATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGG
GGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTC
TGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATG
GACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAA
AGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATT
GATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGA
ATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAG
CAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACA
AGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCA
GAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATG
GCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTC
AGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTC
TCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGG
ACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCAT
CCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTT
GAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAG
CTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGA
ACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGAC
AGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACT
TTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGC
TGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCT
TGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCT
GCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAG
CGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCA
TCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTG
TGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGAC
ACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAG
TTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTG
AATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCAC
AGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGAT
TAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAA
TAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGA
TGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGT
TGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCA
ACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGAC
AAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAA
ATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTT
TAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAA
ATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCA
GAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTAC
TGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAA
TTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAA
ACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323992 ⟹ NP_001310921

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTCTCACTGTGTTGCCCAGGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGAT
CTCCCTCCTTAGCCTCCCAGATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGC
TGTTTGCACAGGATAGAATTAAGAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCT
CCTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTA
AAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCG
TAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCA
CTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAG
TTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAA
TGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTT
ATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATC
TTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTC
CATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATT
GCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAG
CCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAA
GGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAA
GCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATG
CTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCC
TGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTC
CAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCC
AGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGA
TGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGC
ATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATG
TCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCAT
TGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCC
CTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGG
AGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAA
TGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGT
ATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGG
TGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGT
GAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGG
CCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAA
ATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATT
TTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTG
TATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGT
TAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGA
GAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAAT
GACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATG
TTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAAC
TGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTG
CAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTT
TTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAG
TGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATT
TAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGT
ATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAAC
TTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323993 ⟹ NP_001310922

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGTC
TCACTGTGTTGCCCAGGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCT
TAGCCTCCCAGATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCAC
AGGATAGAATTAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGT
ATTGCACATTGCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAA
GAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACA
GCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTG
GTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCC
GTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGA
AGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAAT
GCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTA
AAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGA
TGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTC
CAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGG
TCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCT
GGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCC
GTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCC
GCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGA
GTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACA
GAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGC
AAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGA
AGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATT
ATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCA
GTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGA
CCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTAC
TGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTG
TTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGT
GGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCT
TCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGA
GAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCC
GGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCC
CCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAA
CACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAA
GAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTT
TTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAA
TGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGG
AATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAA
AGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCA
GAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTC
TCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGAC
ATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTC
CTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTC
CCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACT
TTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATT
TACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCC
CAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323994 ⟹ NP_001310923

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTGAGTTGGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAA
TGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGA
TTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAG
AAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCA
ACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCA
GTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGT
AAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCA
CAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTT
GGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACA
GCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACT
ATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCAT
GCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCC
ATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGA
AAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTT
TGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCC
CGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCT
TCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACAT
CATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAA
GGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCA
GGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCT
GCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAG
GCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGA
TCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTC
TACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATG
AAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTA
AACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGA
CAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTG
TTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAG
ACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTA
GAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAAC
CAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTA
GTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGT
CCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTA
GGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTA
AAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTG
TTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTC
TCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCA
TTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAA
CATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATT
GATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAAT
TTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323995 ⟹ NP_001310924

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCTTAGCCTCCCA
GATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAAT
TAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATT
GCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGC
ACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAA
GCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTG
AAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGC
CAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAG
CTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGG
CTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATG
GGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTG
GCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGG
ATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGT
AGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACT
AAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCC
TCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATA
TGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGAC
TCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATC
AGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAA
GATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAA
TGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGA
TGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAA
GAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCC
GACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGC
TGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGG
GGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACA
GTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACC
TTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACA
GGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCC
CTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCG
GGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACT
AGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTT
TAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTT
AAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACC
AAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTC
AACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTG
TGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTC
TGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACAT
GAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAG
TTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCC
CAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGG
CTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATT
TGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACC
TTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTC
CACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323996 ⟹ NP_001310925

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGACA
AGGTCTCACTGTGTTGCCCAGGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCC
CTCCTTAGCCTCCCAGATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTT
TGCACAGGATAGAATTAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTC
CTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAA
AGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGT
AGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCAC
TTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGT
TTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAAT
GAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTA
TTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCT
TTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCC
ATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTG
CTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGC
CCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAG
GTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAG
CAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGC
TTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCT
GAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCC
AGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCA
GGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGAT
GCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCA
TGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGT
CATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATT
GCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCC
TCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGA
GCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAAT
GCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTA
TGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGT
GAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTG
AACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGC
CGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAA
TACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTT
TCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGT
ATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTT
AGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAG
AAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATG
ACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGT
TCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACT
GATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGC
AGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTT
TTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGT
GTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTT
AGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTA
TAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACT
TTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323997 ⟹ NP_001310926

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTCTCACTGTGTTGCCCAGGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGAT
CTCCCTCCTTAGCCTCCCAGATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGC
TGTTTGCACAGGATAGAATTAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATT
CCTCCTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGAC
GTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTT
GCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTT
CCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCC
AAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAA
TAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAG
GTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGG
ATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTAC
TTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTC
ATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGG
CAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGA
GAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTA
GAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCG
ATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGAC
CCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGC
GTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTC
CCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCT
GGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATG
TGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGG
ATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCAC
CATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATC
GCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCG
GGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGAT
GAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAG
GGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCAT
TGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCA
CGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGC
CGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGC
TAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGA
ATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAG
CTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCT
TGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTG
AGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTA
AATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGC
ATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAA
AACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTG
CTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACA
CTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTG
CAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTA
ATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAA
GGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACT
AACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323998 ⟹ NP_001310927

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGTT
GGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCTTAGCCTCCCAGATAGCTGG
GACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAATTAAGAGCAG
CATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGG
GGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTC
TGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATG
GACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAA
AGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATT
GATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGA
ATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAG
CAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACA
AGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCA
GAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATG
GCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTC
AGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTC
TCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGG
ACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCAT
CCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTT
GAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAG
CTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGA
ACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGAC
AGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACT
TTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGC
TGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCT
TGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCT
GCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAG
CGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCA
TCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTG
TGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGAC
ACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAG
TTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTG
AATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCAC
AGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGAT
TAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAA
TAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGA
TGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGT
TGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCA
ACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGAC
AAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAA
ATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTT
TAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAA
ATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCA
GAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTAC
TGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAA
TTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAA
ACCACGACA

hide sequence

RefSeq Acc Id:

NM_001323999 ⟹ NP_001310928

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGTT
GGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCTTAGCCTCCCAGATAGCTGG
GACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAATTAAGAGCAT
GTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGGGGC
TTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGC
AATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGAC
CACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGA
ATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGAT
TGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATG
TCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAA
AACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGT
CCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAG
AATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCC
TGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGA
GATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCC
AACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACC
CTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCG
GGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAG
ACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTG
GCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACA
GGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGT
GGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTA
CCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGA
GGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGC
AAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCA
GCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGC
CATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCC
TACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGT
CATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACA
GACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTC
AAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAAT
ATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGG
GAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAA
AAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAA
AAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGC
CCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGA
GAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACC
TGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAA
CTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATT
TTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAG
GCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATG
CAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAA
AAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGT
AGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTT
TATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACC
ACGACA

hide sequence

RefSeq Acc Id:

NM_001324000 ⟹ NP_001310929

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGCAT
GTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGGGGC
TTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGC
AATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGAC
CACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGA
ATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGAT
TGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATG
TCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAA
AACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGT
CCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAG
AATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCC
TGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGA
GATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCC
AACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACC
CTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCG
GGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAG
ACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTG
GCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACA
GGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGT
GGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTA
CCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGA
GGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGC
AAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCA
GCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGC
CATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCC
TACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGT
CATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACA
GACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTC
AAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAAT
ATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGG
GAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAA
AAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAA
AAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGC
CCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGA
GAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACC
TGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAA
CTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATT
TTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAG
GCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATG
CAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAA
AAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGT
AGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTT
TATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACC
ACGACA

hide sequence

RefSeq Acc Id:

NM_001324001 ⟹ NP_001310930

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGCT
GGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGG
ACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAA
TGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTAT
GCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCT
CAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCC
TCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAAC
ATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACA
TTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATG
TGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGC
CGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACA
CAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCA
AGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTT
ATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAA
GGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGAC
GAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAG
CTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCA
AGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCA
GATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACA
TCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCC
GCACCATTGCAGACCATGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAA
TGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGT
ATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGG
TGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGT
GAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGG
CCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAA
ATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATT
TTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTG
TATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGT
TAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGA
GAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAAT
GACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATG
TTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAAC
TGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTG
CAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTT
TTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAG
TGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATT
TAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGT
ATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAAC
TTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324002 ⟹ NP_001310931

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGCT
GGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGG
ACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAA
TGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTAT
GCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCT
CAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCC
TCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAAC
ATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACA
TTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATG
TGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGC
CGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACA
CAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCA
AGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTT
ATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAA
GGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGAC
GAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAG
CTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCA
AGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCA
GATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACA
TCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCC
GCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACG
CATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTC
GGCGGGGAGCTTGTTGTCTCTGGGAACTGTGACACCTGCGGGGCACTGCAAGGGCTGAAAGGCT
GGCCTCCTCCCCTTTGCTGGCCACTCACTGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCC
AAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACC
AAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGA
GAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCT
CAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAG
TCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCA
AATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGT
CCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAG
CCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATC
CCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGC
GTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTT
GACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCC
CTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGT
ATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACT
AATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATA
ATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACT
TCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTG
CTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACT
ATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTT
TTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324003 ⟹ NP_001310932

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGATG
GCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAATTAAGAGCAGCATGTCAGCAT
TCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAG
GCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATA
AAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTC
AGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAAT
GAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTG
CCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAG
CCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAG
AGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTC
TCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACAT
TTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGC
ACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACA
ACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGT
CATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAG
CCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCA
GGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGA
TTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGT
GCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCA
GCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGA
CATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGT
AAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGAT
CCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGA
CCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTC
AAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGAACTGTGACACCTGCGGGG
CACTGCAAGGGCTGAAAGGCTGGCCTCCTCCCCTTTGCTGGCCACTCACTGGGTGGACAGCGCC
ATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCT
ACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTC
ATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAG
ACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCA
AAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATA
TCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGG
AAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAA
AATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAA
AATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCC
CATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAG
AGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCT
GGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAAC
TCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTT
TAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGG
CTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGC
AAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAA
AACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTA
GTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTT
ATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCA
CGACA

hide sequence

RefSeq Acc Id:

NM_001324004 ⟹ NP_001310933

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGA
AGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCT
GGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTT
AAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCT
GTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGC
CCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCC
CAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTG
TCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGT
GAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCA
ATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAG
GAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTT
TACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAG
AATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGC
TGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAG
AAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATC
ATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAG
AAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCT
GGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTC
AAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACA
AGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTA
CCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTG
CAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGAACTGTGACACCTGCGGGGCACTGCAAGGGC
TGAAAGGCTGGCCTCCTCCCCTTTGCTGGCCACTCACTGGGTGGACAGCGCCATGTCCCTGATC
CAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTA
CCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAA
GGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAA
CGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACA
GCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTT
CGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGAC
TGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGA
ATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCA
AAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGT
GATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCC
AGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGG
AAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAA
ACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTT
ATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTC
GATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATT
GGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACA
TAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGA
TTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTT
GAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324005 ⟹ NP_001310934

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGTT
GGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCTTAGCCTCCCAGATAGCTGG
GACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAATTAAGAGCAG
CATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGG
GGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTC
TGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATG
GACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAA
AGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATT
GATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGA
ATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAG
CAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACA
AGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCA
GAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATG
GCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTC
AGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTC
TCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGG
ACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCAT
CCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTT
GAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAG
CTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGA
ACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGAC
AGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACT
TTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGC
TGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCT
TGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCT
GCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGAACTGTGA
CACCTGCGGGGCACTGCAAGGGCTGAAAGGCTGGCCTCCTCCCCTTTGCTGGCCACTCACTGGG
TGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGT
GAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTT
CCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGG
ATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCT
CAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGG
GCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAG
ATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTA
AGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAA
ATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAA
GCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAA
CTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTG
GTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTG
GAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGA
AATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTT
GCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCA
GCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCT
TGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTG
TGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTT
ATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCA
CTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324006 ⟹ NP_001310935

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCTTAGCCTCCCA
GATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAAT
TAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATT
GCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGC
ACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAA
GCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTG
AAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGC
CAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAG
CTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGTTTTAAAATTGGAAGCTTT
AACTCATTGCCTTGAGACCTTCCTTCCTCCTTTTCTAAGGTTATTAATGCTGCACTGGCTTTAG
CAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAA
ACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTC
TCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGG
ATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCAC
CTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTG
CTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCT
CGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGG
CATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGAC
TTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGA
TAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGC
GGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGAC
GACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAG
ACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAAT
TGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCG
GCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACA
TCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGA
CAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAG
GCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTG
CTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGA
GACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGC
GAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTC
CTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTC
CACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTT
GATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAA
AAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCG
AGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTC
AGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAA
GCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGG
GACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATG
AAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTT
TTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTT
CAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCA
GCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGAT
TACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTT
AAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTAT
GAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324007 ⟹ NP_001310936

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGATG
GCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAATTAAGAGCAGCATGTCAGCAT
TCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATTGCTGAAAGGGGCTTCCTGAG
GCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATA
AAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTC
AGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAAT
GAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTG
CCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAG
CCAGTTAGAAGCCCTCTGTCCTCAGTTTTAAAATTGGAAGCTTTAACTCATTGCCTTGAGACCT
TCCTTCCTCCTTTTCTAAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAA
CTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAG
ATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGA
AGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCT
GGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATG
AGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCC
ACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATG
GATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAG
CAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGA
TGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGG
GCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCC
AGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCAT
TGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGA
CCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGA
TGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCT
GGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCC
GAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCC
AGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTAC
CAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAG
GCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAAC
GGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAG
CATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTC
GTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACT
GAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAA
TGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAA
AGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTG
ATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCA
GACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGA
AGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAA
CATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTA
TAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCG
ATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTG
GGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACAT
AGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGAT
TGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTG
AATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324008 ⟹ NP_001310937

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGCTGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGA
AGACCAGGGACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCT
GGAAACCAATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTT
AAGGAGTATGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCT
GTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGC
CCTCTGTCCTCAGTTTTAAAATTGGAAGCTTTAACTCATTGCCTTGAGACCTTCCTTCCTCCTT
TTCTAAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAG
AACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATG
ACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAA
ATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGA
GGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCT
ACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGA
GCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAG
TTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGA
TAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAG
GACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCT
CAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGA
GCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAA
GCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAAT
ACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTG
GCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCA
ACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAAT
CTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGA
ACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAA
GTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAA
AAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGA
AGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTG
CCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATG
AATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAG
GTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTA
CTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCAC
ATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTA
GGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACT
GCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGG
AGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCA
TGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATG
TACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCA
GAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTA
ATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAA
GGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTA
ACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTAC
ACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324009 ⟹ NP_001310938

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGCT
GGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGG
ACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAA
TGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTAT
GCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATCT
CAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCC
TCAGTTTTAAAATTGGAAGCTTTAACTCATTGCCTTGAGACCTTCCTTCCTCCTTTTCTAAGGT
TATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAACATGGAT
CTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGACATTACTT
CCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAATGTGTCAT
TGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCA
GCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTACACAGAGA
AGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGA
AGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGAT
GCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCC
CTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGT
CCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCC
CAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGG
ATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTG
CATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATACATCGGAT
GTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCA
TTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGC
CCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGG
GAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGA
ATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGG
TATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTG
GTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACG
TGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCG
GCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTA
AATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAAT
TTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCT
GTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACATTAGCTTG
TTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAG
AGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAA
TGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCAT
GTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATGAAGAAAA
CTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTACGCTGCT
GCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGAACACACT
TTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAATAACTGCA
GTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAAT
TTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAACTACAAGG
TATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACACTAACTAA
CTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324010 ⟹ NP_001310939

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGA
ACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGA
CATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAA
TGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAG
GCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTA
CACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAG
CAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGT
TTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGAT
AAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGG
ACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTC
AGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAG
CAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAG
CAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATA
CATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGG
CCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAA
CGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATC
TCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAA
CTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAG
TCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAA
AGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAA
GAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGC
CCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGA
ATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGG
TGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTAC
TTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACA
TTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAG
GGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTG
CTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGA
GAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCAT
GAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGT
ACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAG
AACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAA
TAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAG
GCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAA
CTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACA
CTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324011 ⟹ NP_001310940

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTTGGAGTGCAGTGGCGTAACCTCCCAGGCTCCATTGATCTCCCTCCTTAGCCTCCCA
GATAGCTGGGACTACAGATGGCCCAAGGGGCTATACAAAGAAAGCTGTTTGCACAGGATAGAAT
TAAGAGCAGCATGTCAGCATTCCGTCTGCAGTTGAGATGTTGATTCCTCCTTGTATTGCACATT
GCTGAAAGGGGCTTCCTGAGGCTGGAGAGAGCAGTGAGGCTGGACGTAAAGAAAGAAGTGATGC
ACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGGACTTGCGTAGACAGCTCCGCAAA
GCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAATGTTCCACTTTTGGTATTGATTG
AAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTATGCCCAAGTTTTCCGTGAACATGC
CAACAAATTGATTGAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTG
GCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATG
CTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGA
TGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGT
GCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGC
CAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACG
TTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGAT
GAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAG
TGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGT
CAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCG
ATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGG
AAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGT
GCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCA
CTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGG
ACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGC
CTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAG
GTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGG
CAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAA
ATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCA
CCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGG
CATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCAT
CTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTC
ACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAA
CCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGC
AGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGA
GAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATG
GCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGAC
AGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGC
AGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACAT
AATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAA
TTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATG
CCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGC
TCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGT
GTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGA
TTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAAT
GTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

NM_001324012 ⟹ NP_001310941

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,400 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,729 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,518 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTTTTGTTTGGGTTTTCCAGAAGCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGG
GTCGTTGCAGGACCCCCTGATTACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGA
TATTCCTTCAGTGTAGGAAGCAGCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATC
TGAACAGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAA
TGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGC
AAAACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAA
GTCCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAG
AGAATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGG
CCTGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCA
GAGATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCT
CCAACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGA
CCCTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATC
CGGGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTG
AGACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGC
TGGCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAA
CAGGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACA
GTGGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTT
TACCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCT
GAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTT
GCAAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTG
CAGCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGC
GCCATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCAT
CCTACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGT
GTCATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACA
CAGACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGT
TCAAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGA
ATATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACA
GGGAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATT
AAAAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAAT
AAAAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGAT
GCCCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTT
GAGAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAA
CCTGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACA
AACTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAA
TTTTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTT
AGGCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAA
TGCAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAG
AAAAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACT
GTAGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAAT
TTTATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAA
CCACGACA

hide sequence

RefSeq Acc Id:

NM_001324013 ⟹ NP_001310942

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,875,230 - 138,935,034 (+)	NCBI
CHM1_1	5	137,643,559 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,401,348 - 139,461,169 (+)	NCBI

Sequence:

show sequence

GGTCTTAACTTGTTGATGGCAGATGGGTGGCTTGTTGCAGAGAAGAGCTCCTGGAGCAGCATGA
GTGCATTTACTGAAAAGCTTTTCCGAGAAACGGCACAAGAATGGATTTGCTTATGTGCTGCGAC
CACACAGAACTGTATATAGGCTGACGTCACCGGATGACGTGTCTTTTGTTTGGGTTTTCCAGAA
GCTTTACTGTTATAAAGCACCATGCTTTGTAACAGCATCGGGGTCGTTGCAGGACCCCCTGATT
ACAATAAAGCGAGAAAGAAGAACTCCTGACTTAAAAACATGATATTCCTTCAGTGTAGGAAGCA
GCAGTGAGGTTGTAATAAAGGCTGCATTCAAGAAGACCCATCTGAACAGTGAGTTGGGTTAGCA
GAGTGATGATTTTTAATGCTTGTGAGAGCCAGTGTTAGACTGCCGATTCTGCATAGAGAGATCA
TCTAAATGGGCAGAAGCCTGCACAATTTATGAAGTGCTGATTTAACACCAGCCTATGCAAGGCT
GGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGGG
ACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCAA
TGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTAT
GCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGGAATCTGATCCCATCTCTTCACAC
CAGAGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATG
TCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAA
AACCACAGAGTAAACTGGCCCAAGAGAACATGGATCTTTTTAAAGAACAATGGGAAAAACAAGT
CCGTGTTCTCACAGATGCTGTCGATGACATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAG
AATCACATTTTGGAAGATGTGAACAAATGTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCC
TGGACCGCACAGCTGGTGCAATTCGAGGCCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGA
GATGGACAACTATGAGCCAGGAGTCTACACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCC
AACACAGTCATGCCACGTTTTACTGAGCAAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACC
CTGCCCAGCCCATGGATGAGAATGAGTTTATCGATGCTTCCCGCCTGGTATATGATGGCATCCG
GGACATCAGGAAAGCAGTGCTGATGATAAGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAG
ACAGAAGATTTTGATGTCAGAAGCAGGACGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTG
GCCAGAGTGCCCGGGCGATCATGGCTCAGCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACA
GGTGGCCAGCTTCCAGGAAGAAAAGAGCAAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGT
GGCAATGACATCATTGTGCTGGCCAAGCAGATGTGCATGATTATGATGGAGATGACAGACTTTA
CCCGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGA
GGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATTGCCCCGACTCGGCTTGC
AAGCAGGACCTGCTGGCCTACCTGCAACGCATCGCCCTCTACTGCCACCAGCTGAACATCTGCA
GCAAGGTCAAGGCCGAGGTGCAGAATCTCGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGC
CATGTCCCTGATCCAGGCAGCCAAGAACTTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCC
TACGTCGCCTCTACCAAATACCAAAAGTCACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGT
CATGGAAGATGAAGGCACCAGAGAAAAAGCCATTGGTGAAGAGAGAGAAACAGGATGAGACACA
GACCAAGATTAAACGGGCATCTCAGAAGAAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTC
AAAGCTATGGACAGCATCTAAGTCTGCCCAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAAT
ATCAGTCACTGTTCGTCACTCAAATGAATTTGCTAAATACAACACTGATACTAGATTCCACAGG
GAAATGGGCAGACTGAACCAGTCCAGGTGGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAA
AAATGCTTTTAGAATGCAGGAGCCTACTTCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAA
AAATTCATAACCAAAGAGAATCCCACATTAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGC
CCATTCTCTTAGTGATGGCGGCGTTAGGGTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGA
GAGGGTGCAGTCCAGACAGCTTGACTGCTTTTAAATGACCAAAGATGACCTGTGGTAAGCAACC
TGGGCATCTTAGGAAGCAGTCCCTGGAGAAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAA
CTCACTCAGTAAAACATAATGTATCATGAAGAAAACTGATTCTCTATGACATGAAATGAAAATT
TTAATGCATTGTTATAATTACTAATGTACGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAG
GCTACAGTGTCTCGATGCCATAATCAGAACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATG
CAAATTCATCATTGGGCTCACTTCTAATAACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAA
AAACCTGACAACATAGTGTTTGCTAAGGCAGTAATTTAGACTTTACCTTATTTGTGATTACTGT
AGTGATTGATTGATTGATTACTATTAACTACAAGGTATAATTTACTATCACCTTATTTAAATTT
TATGAATTAATTTGAATGTTTTTTACACTAACTAACTTTTCCCAATAAAGTCCACTATGAAACC
ACGACA

hide sequence

RefSeq Acc Id:

NM_001903 ⟹ NP_001894

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,935,034 (+)	NCBI
GRCh37	5	138,089,075 - 138,270,723 (+)	NCBI
Build 36	5	138,117,006 - 138,298,622 (+)	NCBI Archive
HuRef	5	133,278,985 - 133,460,517 (+)	ENTREZGENE
CHM1_1	5	137,521,730 - 137,703,280 (+)	NCBI
T2T-CHM13v2.0	5	139,279,620 - 139,461,169 (+)	NCBI

Sequence:

show sequence

CTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTA
GCGCTCGCCCAGCTAGCCGCAGAAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGG
ATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAGCCTCTTGTTACACA
GGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAG
AAGGCCCATGTTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATA
AAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTTGTGGCTGCTGTAGAAGATGTTCGAAA
ACAAGGTGATTTGATGAAGGCTGCTGCAGGAGAGTTCGCAGATGATCCCTGCTCTTCTGTGAAG
CGAGGCAACATGGTTCGGGCAGCTCGAGCTTTGCTCTCTGCTGTTACCCGGTTGCTGATTTTGG
CTGACATGGCAGATGTCTACAAATTACTTGTTCAGCTGAAAGTTGTGGAAGATGGTATCTTGAA
GTTGAGGAATGCTGGCAATGAACAAGACTTAGGAATCCAGTATAAAGCCCTAAAACCTGAAGTG
GATAAGCTGAACATTATGGCAGCCAAAAGACAACAGGAATTGAAAGATGTTGGCCATCGTGATC
AGATGGCTGCAGCTAGAGGAATCCTGCAGAAGAACGTTCCGATCCTCTATACTGCATCCCAGGC
ATGCCTACAGCACCCTGATGTCGCAGCCTATAAGGCCAACAGGGACCTGATATACAAGCAGCTG
CAGCAGGCGGTCACAGGCATTTCCAATGCAGCCCAGGCCACTGCCTCAGACGATGCCTCACAGC
ACCAGGGTGGAGGAGGAGGAGAACTGGCATATGCACTCAATAACTTTGACAAACAAATCATTGT
GGACCCCTTGAGCTTCAGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATC
ATTAGTGGGGCTGCCTTGATGGCCGACTCGTCCTGCACGCGTGATGACCGTCGTGAGCGAATTG
TGGCAGAGTGTAATGCTGTCCGCCAGGCCCTGCAGGACCTGCTTTCGGAGTACATGGGCAATGC
TGGACGTAAAGAAAGAAGTGATGCACTCAATTCTGCAATAGATAAAATGACCAAGAAGACCAGG
GACTTGCGTAGACAGCTCCGCAAAGCTGTCATGGACCACGTTTCAGATTCTTTCCTGGAAACCA
ATGTTCCACTTTTGGTATTGATTGAAGCTGCAAAGAATGGAAATGAGAAAGAAGTTAAGGAGTA
TGCCCAAGTTTTCCGTGAACATGCCAACAAATTGATTGAGGTTGCCAACTTGGCCTGTTCCATC
TCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTC
CTCAGGTTATTAATGCTGCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCAAGAGAA
CATGGATCTTTTTAAAGAACAATGGGAAAAACAAGTCCGTGTTCTCACAGATGCTGTCGATGAC
ATTACTTCCATTGATGACTTCTTGGCTGTCTCAGAGAATCACATTTTGGAAGATGTGAACAAAT
GTGTCATTGCTCTCCAAGAGAAGGATGTGGATGGCCTGGACCGCACAGCTGGTGCAATTCGAGG
CCGGGCAGCCCGGGTCATTCACGTAGTCACCTCAGAGATGGACAACTATGAGCCAGGAGTCTAC
ACAGAGAAGGTTCTGGAAGCCACTAAGCTGCTCTCCAACACAGTCATGCCACGTTTTACTGAGC
AAGTAGAAGCAGCCGTGGAAGCCCTCAGCTCGGACCCTGCCCAGCCCATGGATGAGAATGAGTT
TATCGATGCTTCCCGCCTGGTATATGATGGCATCCGGGACATCAGGAAAGCAGTGCTGATGATA
AGGACCCCTGAGGAGTTGGATGACTCTGACTTTGAGACAGAAGATTTTGATGTCAGAAGCAGGA
CGAGCGTCCAGACAGAAGACGATCAGCTGATAGCTGGCCAGAGTGCCCGGGCGATCATGGCTCA
GCTTCCCCAGGAGCAAAAAGCGAAGATTGCGGAACAGGTGGCCAGCTTCCAGGAAGAAAAGAGC
AAGCTGGATGCTGAAGTGTCCAAATGGGACGACAGTGGCAATGACATCATTGTGCTGGCCAAGC
AGATGTGCATGATTATGATGGAGATGACAGACTTTACCCGAGGTAAAGGACCACTCAAAAATAC
ATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGC
CGCACCATTGCAGACCATTGCCCCGACTCGGCTTGCAAGCAGGACCTGCTGGCCTACCTGCAAC
GCATCGCCCTCTACTGCCACCAGCTGAACATCTGCAGCAAGGTCAAGGCCGAGGTGCAGAATCT
CGGCGGGGAGCTTGTTGTCTCTGGGGTGGACAGCGCCATGTCCCTGATCCAGGCAGCCAAGAAC
TTGATGAATGCTGTGGTGCAGACAGTGAAGGCATCCTACGTCGCCTCTACCAAATACCAAAAGT
CACAGGGTATGGCTTCCCTCAACCTTCCTGCTGTGTCATGGAAGATGAAGGCACCAGAGAAAAA
GCCATTGGTGAAGAGAGAGAAACAGGATGAGACACAGACCAAGATTAAACGGGCATCTCAGAAG
AAGCACGTGAACCCGGTGCAGGCCCTCAGCGAGTTCAAAGCTATGGACAGCATCTAAGTCTGCC
CAGGCCGGCCGCCCCCACCCCTCGGGGCTCCTGAATATCAGTCACTGTTCGTCACTCAAATGAA
TTTGCTAAATACAACACTGATACTAGATTCCACAGGGAAATGGGCAGACTGAACCAGTCCAGGT
GGTGAATTTTCCAAGAACATAGTTTAAGTTGATTAAAAATGCTTTTAGAATGCAGGAGCCTACT
TCTAGCTGTATTTTTTGTATGCTTAAATAAAAATAAAAATTCATAACCAAAGAGAATCCCACAT
TAGCTTGTTAGTAATGCTCTGACCAAGCCGAGATGCCCATTCTCTTAGTGATGGCGGCGTTAGG
GTTTGAGAGAAGGGAATTTGGCTCAACTTCAGTTGAGAGGGTGCAGTCCAGACAGCTTGACTGC
TTTTAAATGACCAAAGATGACCTGTGGTAAGCAACCTGGGCATCTTAGGAAGCAGTCCCTGGAG
AAGGCATGTTCCCAGAAAGGTCTCTGGAGGGACAAACTCACTCAGTAAAACATAATGTATCATG
AAGAAAACTGATTCTCTATGACATGAAATGAAAATTTTAATGCATTGTTATAATTACTAATGTA
CGCTGCTGCAGGACATTAATAAAGTTGCTTTTTTAGGCTACAGTGTCTCGATGCCATAATCAGA
ACACACTTTTTTTCCTCTTTCTCCCAGCTTCAAATGCAAATTCATCATTGGGCTCACTTCTAAT
AACTGCAGTGTTTCCCGCCTTGGGCTTGCAGCAGAAAAACCTGACAACATAGTGTTTGCTAAGG
CAGTAATTTAGACTTTACCTTATTTGTGATTACTGTAGTGATTGATTGATTGATTACTATTAAC
TACAAGGTATAATTTACTATCACCTTATTTAAATTTTATGAATTAATTTGAATGTTTTTTACAC
TAACTAACTTTTCCCAATAAAGTCCACTATGAAACCACGACA

hide sequence

RefSeq Acc Id:

XM_054351718 ⟹ XP_054207693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	139,406,705 - 139,461,169 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001277236	(Get FASTA)	NCBI Sequence Viewer
	NP_001277238	(Get FASTA)	NCBI Sequence Viewer
	NP_001277239	(Get FASTA)	NCBI Sequence Viewer
	NP_001277241	(Get FASTA)	NCBI Sequence Viewer
	NP_001310911	(Get FASTA)	NCBI Sequence Viewer
	NP_001310912	(Get FASTA)	NCBI Sequence Viewer
	NP_001310913	(Get FASTA)	NCBI Sequence Viewer
	NP_001310914	(Get FASTA)	NCBI Sequence Viewer
	NP_001310915	(Get FASTA)	NCBI Sequence Viewer
	NP_001310916	(Get FASTA)	NCBI Sequence Viewer
	NP_001310917	(Get FASTA)	NCBI Sequence Viewer
	NP_001310918	(Get FASTA)	NCBI Sequence Viewer
	NP_001310919	(Get FASTA)	NCBI Sequence Viewer
	NP_001310920	(Get FASTA)	NCBI Sequence Viewer
	NP_001310921	(Get FASTA)	NCBI Sequence Viewer
	NP_001310922	(Get FASTA)	NCBI Sequence Viewer
	NP_001310923	(Get FASTA)	NCBI Sequence Viewer
	NP_001310924	(Get FASTA)	NCBI Sequence Viewer
	NP_001310925	(Get FASTA)	NCBI Sequence Viewer
	NP_001310926	(Get FASTA)	NCBI Sequence Viewer
	NP_001310927	(Get FASTA)	NCBI Sequence Viewer
	NP_001310928	(Get FASTA)	NCBI Sequence Viewer
	NP_001310929	(Get FASTA)	NCBI Sequence Viewer
	NP_001310930	(Get FASTA)	NCBI Sequence Viewer
	NP_001310931	(Get FASTA)	NCBI Sequence Viewer
	NP_001310932	(Get FASTA)	NCBI Sequence Viewer
	NP_001310933	(Get FASTA)	NCBI Sequence Viewer
	NP_001310934	(Get FASTA)	NCBI Sequence Viewer
	NP_001310935	(Get FASTA)	NCBI Sequence Viewer
	NP_001310936	(Get FASTA)	NCBI Sequence Viewer
	NP_001310937	(Get FASTA)	NCBI Sequence Viewer
	NP_001310938	(Get FASTA)	NCBI Sequence Viewer
	NP_001310939	(Get FASTA)	NCBI Sequence Viewer
	NP_001310940	(Get FASTA)	NCBI Sequence Viewer
	NP_001310941	(Get FASTA)	NCBI Sequence Viewer
	NP_001310942	(Get FASTA)	NCBI Sequence Viewer
	NP_001894	(Get FASTA)	NCBI Sequence Viewer
	XP_054207693	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA18949	(Get FASTA)	NCBI Sequence Viewer
	AAA35502	(Get FASTA)	NCBI Sequence Viewer
	AAA86430	(Get FASTA)	NCBI Sequence Viewer
	AAC99459	(Get FASTA)	NCBI Sequence Viewer
	AAH00385	(Get FASTA)	NCBI Sequence Viewer
	AAH31262	(Get FASTA)	NCBI Sequence Viewer
	AAW56940	(Get FASTA)	NCBI Sequence Viewer
	ADO22446	(Get FASTA)	NCBI Sequence Viewer
	AEF32483	(Get FASTA)	NCBI Sequence Viewer
	BAA02979	(Get FASTA)	NCBI Sequence Viewer
	BAA03530	(Get FASTA)	NCBI Sequence Viewer
	BAG52830	(Get FASTA)	NCBI Sequence Viewer
	BAG59301	(Get FASTA)	NCBI Sequence Viewer
	BAG62162	(Get FASTA)	NCBI Sequence Viewer
	BAG65130	(Get FASTA)	NCBI Sequence Viewer
	EAW62122	(Get FASTA)	NCBI Sequence Viewer
	EAW62123	(Get FASTA)	NCBI Sequence Viewer
	EAW62124	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304669
	ENSP00000304669.7
	ENSP00000427821.1
	ENSP00000428044.1
	ENSP00000428049.1
	ENSP00000428088.1
	ENSP00000428202.1
	ENSP00000428439.1
	ENSP00000428686.1
	ENSP00000428710.1
	ENSP00000428894.1
	ENSP00000429103.1
	ENSP00000429142.1
	ENSP00000429457.1
	ENSP00000429569.1
	ENSP00000429636.1
	ENSP00000429738.1
	ENSP00000430076.1
	ENSP00000430078.1
	ENSP00000430177.1
	ENSP00000430240.1
	ENSP00000430304.1
	ENSP00000430379.1
	ENSP00000430623.1
	ENSP00000430626.1
	ENSP00000430671.1
	ENSP00000430841.1
	ENSP00000430981.1
	ENSP00000431033.1
	ENSP00000431118.1
	ENSP00000438476
	ENSP00000438476.1
	ENSP00000482738.1
	ENSP00000486200
	ENSP00000486200.1
GenBank Protein	P35221	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001894 ⟸ NM_001903
- Peptide Label:	isoform 1
- UniProtKB:	Q12795 (UniProtKB/Swiss-Prot), Q8N1C0 (UniProtKB/Swiss-Prot), P35221 (UniProtKB/Swiss-Prot), A0A384MDY0 (UniProtKB/TrEMBL), B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVK LVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFL AVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEAT KLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDD SDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSK WDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCP DSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQT VKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQA LSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001277236 ⟸ NM_001290307
- Peptide Label:	isoform 2
- UniProtKB:	G3XAM7 (UniProtKB/TrEMBL), B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVK LVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFL AVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEAT KLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDD SDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSK WDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCP DSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGNCDTCGALQGLKGWPPPLCWP LTGWTAPCP hide sequence

RefSeq Acc Id:	NP_001277239 ⟸ NM_001290310
- Peptide Label:	isoform 4 precursor
- UniProtKB:	B4DKT9 (UniProtKB/TrEMBL), B4DU00 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVRAARALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKL NIMAAKRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQA VTGISNAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISG AALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLR RQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNN EEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITS IDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEK VLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTP EELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLD AEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTI ADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMN AVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHV NPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001277238 ⟸ NM_001290309
- Peptide Label:	isoform 3
- UniProtKB:	B4DU00 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKAAAGEFADDPCSSVKRGNMVRAARALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNA GNEQDLGIQYKALKPEVDKLNIMAAKRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQH PDVAAYKANRDLIYKQLQQAVTGISNAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLS FSEERFRPSLEERLESIISGAALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKE RSDALNSAIDKMTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVF REHANKLIEVANLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLF KEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAAR VIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDAS RLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQE QKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVI SAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGEL VVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVK REKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001277241 ⟸ NM_001290312
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310911 ⟸ NM_001323982
- Peptide Label:	isoform 1
- UniProtKB:	Q12795 (UniProtKB/Swiss-Prot), Q8N1C0 (UniProtKB/Swiss-Prot), P35221 (UniProtKB/Swiss-Prot), A0A384MDY0 (UniProtKB/TrEMBL), B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVK LVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFL AVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEAT KLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDD SDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSK WDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCP DSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQT VKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQA LSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310913 ⟸ NM_001323984
- Peptide Label:	isoform 1
- UniProtKB:	Q12795 (UniProtKB/Swiss-Prot), Q8N1C0 (UniProtKB/Swiss-Prot), P35221 (UniProtKB/Swiss-Prot), A0A384MDY0 (UniProtKB/TrEMBL), B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVK LVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFL AVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEAT KLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDD SDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSK WDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCP DSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQT VKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQA LSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310914 ⟸ NM_001323985
- Peptide Label:	isoform 6
- UniProtKB:	B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVK LVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFL AVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEAT KLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDD SDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSK WDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCP DSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGAAKNLMNAVVQTVKASYVAST KYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDS I hide sequence

RefSeq Acc Id:	NP_001310915 ⟸ NM_001323986
- Peptide Label:	isoform 7
- UniProtKB:	B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVINAALALAAKPQSKL AQENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAG AIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMD ENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARA IMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGP LKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAE VQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKA PEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310912 ⟸ NM_001323983
- Peptide Label:	isoform 1
- UniProtKB:	Q12795 (UniProtKB/Swiss-Prot), Q8N1C0 (UniProtKB/Swiss-Prot), P35221 (UniProtKB/Swiss-Prot), A0A384MDY0 (UniProtKB/TrEMBL), B4E2G8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAAS VEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAA RALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAA KRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKANRDLIYKQLQQAVTGIS NAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEERFRPSLEERLESIISGAALMA DSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKTRDLRRQLRK AVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVK LVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFL AVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEAT KLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDD SDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSK WDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCP DSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQT VKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQA LSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310925 ⟸ NM_001323996
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310922 ⟸ NM_001323993
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:

NP_001310934 ⟸ NM_001324005

- Peptide Label:

isoform 9

- Sequence:

show sequence

MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA
NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL
TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN
YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR
KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS
FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS
RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGNCDTCGA
LQGLKGWPPPLCWPLTGWTAPCP

hide sequence

RefSeq Acc Id:	NP_001310927 ⟸ NM_001323998
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310928 ⟸ NM_001323999
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:

NP_001310936 ⟸ NM_001324007

- Peptide Label:

isoform 10

- Sequence:

show sequence

MDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRG
RAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEF
IDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQ
LPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNT
SDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNL
GGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKK
PLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI

hide sequence

RefSeq Acc Id:

NP_001310932 ⟸ NM_001324003

- Peptide Label:

isoform 9

- Sequence:

show sequence

MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA
NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL
TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN
YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR
KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS
FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS
RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGNCDTCGA
LQGLKGWPPPLCWPLTGWTAPCP

hide sequence

RefSeq Acc Id:	NP_001310919 ⟸ NM_001323990
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310920 ⟸ NM_001323991
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310929 ⟸ NM_001324000
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:

NP_001310942 ⟸ NM_001324013

- Peptide Label:

isoform 12

- Sequence:

show sequence

MSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVS
ENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLL
SNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDF
ETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDD
SGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSA
CKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKA
SYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSE
FKAMDSI

hide sequence

RefSeq Acc Id:

NP_001310938 ⟸ NM_001324009

- Peptide Label:

isoform 10

- Sequence:

show sequence

MDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRG
RAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEF
IDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQ
LPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNT
SDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNL
GGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKK
PLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI

hide sequence

RefSeq Acc Id:

NP_001310931 ⟸ NM_001324002

- Peptide Label:

isoform 9

- Sequence:

show sequence

MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA
NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL
TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN
YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR
KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS
FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS
RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGNCDTCGA
LQGLKGWPPPLCWPLTGWTAPCP

hide sequence

RefSeq Acc Id:	NP_001310930 ⟸ NM_001324001
- Peptide Label:	isoform 8
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKA PEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310923 ⟸ NM_001323994
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310917 ⟸ NM_001323988
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310926 ⟸ NM_001323997
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310921 ⟸ NM_001323992
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:

NP_001310935 ⟸ NM_001324006

- Peptide Label:

isoform 10

- Sequence:

show sequence

MDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRG
RAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEF
IDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQ
LPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNT
SDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNL
GGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKK
PLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI

hide sequence

RefSeq Acc Id:	NP_001310924 ⟸ NM_001323995
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310940 ⟸ NM_001324011
- Peptide Label:	isoform 11
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVI NAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIA LQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEA AVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQ TEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCM IMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIAL YCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGM ASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:	NP_001310918 ⟸ NM_001323989
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:

NP_001310937 ⟸ NM_001324008

- Peptide Label:

isoform 10

- Sequence:

show sequence

MDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRG
RAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEF
IDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQ
LPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNT
SDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNL
GGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKK
PLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI

hide sequence

RefSeq Acc Id:

NP_001310933 ⟸ NM_001324004

- Peptide Label:

isoform 9

- Sequence:

show sequence

MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA
NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL
TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN
YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR
KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS
FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS
RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGNCDTCGA
LQGLKGWPPPLCWPLTGWTAPCP

hide sequence

RefSeq Acc Id:	NP_001310916 ⟸ NM_001323987
- Peptide Label:	isoform 5
- UniProtKB:	B3KSR8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVA NLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVL TDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDN YEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIR KAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVAS FQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGS RMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSL IQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKI KRASQKKHVNPVQALSEFKAMDSI hide sequence

RefSeq Acc Id:

NP_001310941 ⟸ NM_001324012

- Peptide Label:

isoform 12

- Sequence:

show sequence

MSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVS
ENHILEDVNKCVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLL
SNTVMPRFTEQVEAAVEALSSDPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDF
ETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDD
SGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSA
CKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKA
SYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSE
FKAMDSI

hide sequence

RefSeq Acc Id:

NP_001310939 ⟸ NM_001324010

- Peptide Label:

isoform 10

- Sequence:

show sequence

MDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDRTAGAIRG
RAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSSDPAQPMDENEF
IDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQ
LPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNT
SDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNL
GGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKK
PLVKREKQDETQTKIKRASQKKHVNPVQALSEFKAMDSI

hide sequence

RefSeq Acc Id:

ENSP00000430177 ⟸ ENST00000517656

RefSeq Acc Id:

ENSP00000431118 ⟸ ENST00000517533

RefSeq Acc Id:

ENSP00000428439 ⟸ ENST00000517980

RefSeq Acc Id:

ENSP00000430626 ⟸ ENST00000518910

RefSeq Acc Id:

ENSP00000427821 ⟸ ENST00000518825

RefSeq Acc Id:

ENSP00000429738 ⟸ ENST00000518381

RefSeq Acc Id:

ENSP00000430671 ⟸ ENST00000519309

RefSeq Acc Id:

ENSP00000430078 ⟸ ENST00000519113

RefSeq Acc Id:

ENSP00000428894 ⟸ ENST00000519116

RefSeq Acc Id:

ENSP00000429103 ⟸ ENST00000519768

RefSeq Acc Id:

ENSP00000428088 ⟸ ENST00000519634

RefSeq Acc Id:

ENSP00000428202 ⟸ ENST00000520339

RefSeq Acc Id:

ENSP00000486200 ⟸ ENST00000627109

RefSeq Acc Id:

ENSP00000429569 ⟸ ENST00000520260

RefSeq Acc Id:

ENSP00000429457 ⟸ ENST00000520158

RefSeq Acc Id:

ENSP00000430841 ⟸ ENST00000520865

RefSeq Acc Id:

ENSP00000430076 ⟸ ENST00000520520

RefSeq Acc Id:

ENSP00000428710 ⟸ ENST00000520522

RefSeq Acc Id:

ENSP00000428686 ⟸ ENST00000521368

RefSeq Acc Id:

ENSP00000431033 ⟸ ENST00000521724

RefSeq Acc Id:

ENSP00000430623 ⟸ ENST00000521640

RefSeq Acc Id:

ENSP00000430981 ⟸ ENST00000521683

RefSeq Acc Id:

ENSP00000429636 ⟸ ENST00000522227

RefSeq Acc Id:

ENSP00000482738 ⟸ ENST00000522052

RefSeq Acc Id:

ENSP00000430379 ⟸ ENST00000522013

RefSeq Acc Id:

ENSP00000429142 ⟸ ENST00000523275

RefSeq Acc Id:

ENSP00000428044 ⟸ ENST00000523298

RefSeq Acc Id:

ENSP00000430304 ⟸ ENST00000523912

RefSeq Acc Id:

ENSP00000430240 ⟸ ENST00000523685

RefSeq Acc Id:

ENSP00000428049 ⟸ ENST00000524127

RefSeq Acc Id:

ENSP00000304669 ⟸ ENST00000302763

RefSeq Acc Id:

ENSP00000438476 ⟸ ENST00000540387

RefSeq Acc Id:	XP_054207693 ⟸ XM_054351718
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P35221-F1-model_v2	AlphaFold	P35221	1-906	view protein structure

Promoters

RGD ID:

6802983

Promoter ID:

HG_KWN:51217

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_001903, UC003LDI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	138,116,621 - 138,117,172 (+)	MPROMDB

RGD ID:

6851322

Promoter ID:

EP73459

Type:

initiation region

Name:

HS_CTNNA1

Description:

Catenin (cadherin-associated protein), alpha 1, 102kDa.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	138,117,008 - 138,117,068	EPD

RGD ID:

6803003

Promoter ID:

HG_KWN:51219

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

ENST00000274711, NM_015564, UC003LDK.1, UC003LDL.1, UC010JEZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	138,236,861 - 138,237,361 (+)	MPROMDB

RGD ID:

6870714

Promoter ID:

EPDNEW_H8522

Type:

initiation region

Name:

CTNNA1_1

Description:

catenin alpha 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	138,753,425 - 138,753,485	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2509	AgrOrtholog
COSMIC	CTNNA1	COSMIC
Ensembl Genes	ENSG00000044115	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000302763	ENTREZGENE
	ENST00000302763.12	UniProtKB/Swiss-Prot
	ENST00000517533.5	UniProtKB/TrEMBL
	ENST00000517656.5	UniProtKB/TrEMBL
	ENST00000517980.5	UniProtKB/TrEMBL
	ENST00000518381.5	UniProtKB/TrEMBL
	ENST00000518825.5	UniProtKB/TrEMBL
	ENST00000518910.5	UniProtKB/TrEMBL
	ENST00000519113.5	UniProtKB/TrEMBL
	ENST00000519116.5	UniProtKB/TrEMBL
	ENST00000519309.5	UniProtKB/TrEMBL
	ENST00000519634.5	UniProtKB/TrEMBL
	ENST00000519768.5	UniProtKB/TrEMBL
	ENST00000520158.5	UniProtKB/TrEMBL
	ENST00000520260.5	UniProtKB/TrEMBL
	ENST00000520339.5	UniProtKB/TrEMBL
	ENST00000520520.1	UniProtKB/TrEMBL
	ENST00000520522.1	UniProtKB/TrEMBL
	ENST00000520865.5	UniProtKB/TrEMBL
	ENST00000521368.5	UniProtKB/TrEMBL
	ENST00000521640.5	UniProtKB/TrEMBL
	ENST00000521683.5	UniProtKB/TrEMBL
	ENST00000521724.5	UniProtKB/TrEMBL
	ENST00000522013.5	UniProtKB/TrEMBL
	ENST00000522052.5	UniProtKB/TrEMBL
	ENST00000522227.5	UniProtKB/TrEMBL
	ENST00000523275.5	UniProtKB/TrEMBL
	ENST00000523298.5	UniProtKB/TrEMBL
	ENST00000523685.5	UniProtKB/TrEMBL
	ENST00000523912.5	UniProtKB/TrEMBL
	ENST00000524127.5	UniProtKB/TrEMBL
	ENST00000540387	ENTREZGENE
	ENST00000540387.5	UniProtKB/Swiss-Prot
	ENST00000627109	ENTREZGENE
	ENST00000627109.2	UniProtKB/TrEMBL
Gene3D-CATH	6.10.250.2510	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Alpha-catenin/vinculin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HR1 repeat	UniProtKB/TrEMBL
	Vinculin, Vh2 four-helix bundle	UniProtKB/TrEMBL
GTEx	ENSG00000044115	GTEx
HGNC ID	HGNC:2509	ENTREZGENE
Human Proteome Map	CTNNA1	Human Proteome Map
InterPro	Alpha-catenin/vinculin-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Alpha_catenin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Vinculin/catenin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Vinculin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1495	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	1495	ENTREZGENE
OMIM	116805	OMIM
PANTHER	ALPHA CATENIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR18914:SF24	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Vinculin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27008	PharmGKB
PRINTS	ALPHACATENIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	VINCULIN_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF47220	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WZL6_HUMAN	UniProtKB/TrEMBL
	A0A384MDY0	ENTREZGENE, UniProtKB/TrEMBL
	B3KSR8	ENTREZGENE, UniProtKB/TrEMBL
	B4DKT9	ENTREZGENE, UniProtKB/TrEMBL
	B4DU00	ENTREZGENE, UniProtKB/TrEMBL
	B4E2G8	ENTREZGENE, UniProtKB/TrEMBL
	CTNA1_HUMAN	UniProtKB/Swiss-Prot
	E5RFG3_HUMAN	UniProtKB/TrEMBL
	E5RFK9_HUMAN	UniProtKB/TrEMBL
	E5RFM3_HUMAN	UniProtKB/TrEMBL
	E5RFM5_HUMAN	UniProtKB/TrEMBL
	E5RG03_HUMAN	UniProtKB/TrEMBL
	E5RGD2_HUMAN	UniProtKB/TrEMBL
	E5RGG4_HUMAN	UniProtKB/TrEMBL
	E5RGS1_HUMAN	UniProtKB/TrEMBL
	E5RGU3_HUMAN	UniProtKB/TrEMBL
	E5RGY6_HUMAN	UniProtKB/TrEMBL
	E5RGY7_HUMAN	UniProtKB/TrEMBL
	E5RHJ5_HUMAN	UniProtKB/TrEMBL
	E5RHR7_HUMAN	UniProtKB/TrEMBL
	E5RHV7_HUMAN	UniProtKB/TrEMBL
	E5RHY5_HUMAN	UniProtKB/TrEMBL
	E5RIB1_HUMAN	UniProtKB/TrEMBL
	E5RIE0_HUMAN	UniProtKB/TrEMBL
	E5RIT8_HUMAN	UniProtKB/TrEMBL
	E5RJ41_HUMAN	UniProtKB/TrEMBL
	E5RJ43_HUMAN	UniProtKB/TrEMBL
	E5RJC9_HUMAN	UniProtKB/TrEMBL
	E5RJL0_HUMAN	UniProtKB/TrEMBL
	E5RJP7_HUMAN	UniProtKB/TrEMBL
	E5RJZ2_HUMAN	UniProtKB/TrEMBL
	G3XAM7	ENTREZGENE, UniProtKB/TrEMBL
	H0YB54_HUMAN	UniProtKB/TrEMBL
	H0YBB8_HUMAN	UniProtKB/TrEMBL
	P35221	ENTREZGENE
	Q12795	ENTREZGENE
	Q16370_HUMAN	UniProtKB/TrEMBL
	Q8N1C0	ENTREZGENE
UniProt Secondary	Q12795	UniProtKB/Swiss-Prot
	Q8N1C0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	CTNNA1	catenin alpha 1		catenin (cadherin-associated protein), alpha 1	Symbol and/or name change	5135510	APPROVED
2015-11-17	CTNNA1	catenin (cadherin-associated protein), alpha 1		catenin (cadherin-associated protein), alpha 1, 102kDa	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar