COQ8A (coenzyme Q8A) - Rat Genome Database

Name: COQ8A
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: COQ8A (coenzyme Q8A) Homo sapiens

Analyze

Symbol:

COQ8A

Name:

coenzyme Q8A

RGD ID:

1343862

HGNC Page

HGNC:16812

Description:

Enables ADP binding activity and kinase activity. Involved in ubiquinone biosynthetic process. Located in mitochondrion. Implicated in primary coenzyme Q10 deficiency 4.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

aarF domain containing kinase 3; aarF domain-containing protein kinase 3; ADCK3; ARCA2; atypical kinase ADCK3, mitochondrial; atypical kinase COQ8A, mitochondrial; CABC1; chaperone activity of bc1 complex-like; chaperone activity of bc1 complex-like, mitochondrial; chaperone, ABC1 activity of bc1 complex homolog; chaperone, abc1 activity of bc1 complex like (s. pombe); chaperone-ABC1-like; coenzyme Q protein 8A; coenzyme Q8 homolog; COQ10D4; COQ8; MGC4849; SCAR9

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):	Coq8a (coenzyme Q8A)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Coq8a (coenzyme Q8A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Coq8a (coenzyme Q8A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	COQ8A (coenzyme Q8A)	NCBI	Ortholog
Canis lupus familiaris (dog):	COQ8A (coenzyme Q8A)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Coq8a (coenzyme Q8A)	NCBI	Ortholog
Sus scrofa (pig):	COQ8A (coenzyme Q8A)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	COQ8A (coenzyme Q8A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Coq8a (coenzyme Q8A)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Ephx4 (epoxide hydrolase 4)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Coq8a (coenzyme Q8A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Coq8a (coenzyme Q8A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	coq8ab (coenzyme Q8A, genome duplicate b)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	coq8a	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	COQ8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Coq8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	coq-8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	coq8a.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	coq8a	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	coq8a.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

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	1	226,940,294 - 226,987,544 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	226,940,286 - 226,987,544 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	227,127,995 - 227,175,245 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	225,194,561 - 225,241,869 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	223,434,723 - 223,481,979	NCBI
Celera	1	200,318,754 - 200,366,064 (+)	NCBI		Celera
Cytogenetic Map	1	q42.13	NCBI
HuRef	1	197,644,481 - 197,691,835 (+)	NCBI		HuRef
CHM1_1	1	228,400,721 - 228,447,734 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	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

autosomal recessive cerebellar ataxia (IAGP)

cerebellar ataxia (IAGP)

coenzyme Q10 deficiency disease (IAGP)

Developmental Disabilities (IAGP)

gastrointestinal stromal tumor (IAGP)

genetic disease (IAGP)

Joubert Syndrome 17 (IAGP)

mitochondrial metabolism disease (IAGP)

Nervous System Malformations (IAGP)

parathyroid carcinoma (IAGP)

pathologic nystagmus (IAGP)

primary coenzyme Q10 deficiency 1 (EXP,IAGP)

primary coenzyme Q10 deficiency 4 (EXP,IAGP,ISS)

Spinocerebellar Ataxias (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ISO)

17beta-estradiol (EXP,ISO)

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

2,4-dinitrotoluene (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

aflatoxin B1 (ISO)

ammonium chloride (ISO)

aristolochic acid A (EXP)

artesunate (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

beta-naphthoflavone (ISO)

bisphenol A (ISO)

bisphenol F (EXP)

C60 fullerene (ISO)

cadmium atom (EXP)

caffeine (ISO)

carbon nanotube (ISO)

carbonyl cyanide p-trifluoromethoxyphenylhydrazone (EXP)

chlorpyrifos (ISO)

chrysene (ISO)

cisplatin (EXP)

clofibric acid (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP,ISO)

dibutyl phthalate (ISO)

diuron (EXP)

doxorubicin (EXP,ISO)

endosulfan (ISO)

epoxiconazole (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

flutamide (ISO)

formaldehyde (EXP)

fulvestrant (EXP)

furan (ISO)

gentamycin (ISO)

glafenine (ISO)

hydrogen peroxide (EXP)

inulin (ISO)

ketamine (ISO)

kojic acid (EXP)

methamphetamine (ISO)

methyl methanesulfonate (EXP)

N-nitrosodiethylamine (ISO)

nefazodone (ISO)

nimesulide (ISO)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

piperonyl butoxide (ISO)

pirinixic acid (EXP,ISO)

piroxicam (EXP)

resveratrol (EXP)

rotenone (ISO)

silicon dioxide (ISO)

sodium fluoride (ISO)

Soman (ISO)

tamoxifen (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

tetraphene (ISO)

thapsigargin (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

Tributyltin oxide (ISO)

trichloroethene (ISO)

tunicamycin (EXP)

ubiquinones (EXP)

valproic acid (ISO)

vancomycin (ISO)

vinclozolin (ISO)

zinc atom (ISO)

zinc(0) (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

ubiquinone biosynthetic process (IBA,IEA,IMP)

Cellular Component

membrane (IEA)

mitochondrion (IDA,IEA)

Molecular Function

ADP binding (IDA)

ATP binding (IEA)

kinase activity (IDA,IEA)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IDA)

transferase activity (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal pyramidal sign (IAGP)

Abnormality of the nervous system (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Axial hypotonia (IAGP)

Brisk reflexes (IAGP)

Cerebellar atrophy (IAGP)

Childhood onset (IAGP)

Decreased level of coenzyme Q10 in skeletal muscle (IAGP)

Developmental regression (IAGP)

Dysdiadochokinesis (IAGP)

Dysmetria (IAGP)

Dystonia (IAGP)

Elevated lactate:pyruvate ratio (IAGP)

EMG abnormality (IAGP)

Epilepsia partialis continua (IAGP)

Exercise intolerance (IAGP)

Focal T2 hypointense basal ganglia lesion (IAGP)

Gastrointestinal stroma tumor (IAGP)

Generalized tonic seizure (IAGP)

Global developmental delay (IAGP)

Gynecomastia (IAGP)

Hearing impairment (IAGP)

Hyperreflexia (IAGP)

Hypotonia (IAGP)

Increased circulating lactate concentration (IAGP)

Increased CSF lactate (IAGP)

Increased intramyocellular lipid droplets (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Intellectual disability, moderate (IAGP)

Lactic acidosis (IAGP)

Myoclonus (IAGP)

Neurodevelopmental delay (IAGP)

Nystagmus (IAGP)

Parathyroid carcinoma (IAGP)

Pes cavus (IAGP)

Progressive cerebellar ataxia (IAGP)

Proximal muscle weakness (IAGP)

Ptosis (IAGP)

Seizure (IAGP)

Slurred speech (IAGP)

Strabismus (IAGP)

Talipes cavus equinovarus (IAGP)

Tremor (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11888884	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15498874	PMID:16189514	PMID:16344560	PMID:16710414	PMID:18319072	PMID:18319074	PMID:20186120	PMID:20301317
PMID:20877624	PMID:21296186	PMID:21873635	PMID:21903422	PMID:22036850	PMID:23383273	PMID:24797263	PMID:25216398	PMID:25315684	PMID:25416956	PMID:25498144	PMID:25540914
PMID:25910212	PMID:26344197	PMID:26866375	PMID:26972000	PMID:27499294	PMID:27499296	PMID:28125198	PMID:28514442	PMID:28611215	PMID:30833792	PMID:30968303	PMID:31056398
PMID:31091453	PMID:31182584	PMID:31240132	PMID:31515488	PMID:31616248	PMID:31620119	PMID:31753913	PMID:31871319	PMID:31980649	PMID:32203420	PMID:32235678	PMID:32296183
PMID:32337771	PMID:32628020	PMID:32707033	PMID:32807901	PMID:32814053	PMID:33001583	PMID:33239621	PMID:33567341	PMID:33622667	PMID:33853758	PMID:33961781	PMID:33988507
PMID:34079125	PMID:34709727	PMID:35007762	PMID:35241646	PMID:35256949	PMID:35384245	PMID:35439318	PMID:35563538	PMID:35944360	PMID:36114006	PMID:36244648	PMID:36538041
PMID:37827155	PMID:38113892

Genomics

Comparative Map Data

COQ8A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	226,940,286 - 226,987,544 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	227,127,995 - 227,175,245 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	225,194,561 - 225,241,869 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	223,434,723 - 223,481,979	NCBI
Celera	1	200,318,754 - 200,366,064 (+)	NCBI		Celera
Cytogenetic Map	1	q42.13	NCBI
HuRef	1	197,644,481 - 197,691,835 (+)	NCBI		HuRef
CHM1_1	1	228,400,721 - 228,447,734 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI		T2T-CHM13v2.0

Coq8a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	179,992,803 - 180,023,585 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	179,992,803 - 180,027,167 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	180,165,238 - 180,196,020 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	180,165,238 - 180,199,602 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	182,095,369 - 182,126,151 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	182,001,815 - 182,032,687 (-)	NCBI		MGSCv36	mm8
Celera	1	187,227,199 - 187,260,762 (-)	NCBI		Celera
Cytogenetic Map	1	H4	NCBI
cM Map	1	84.15	NCBI

Coq8a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	94,436,680 - 94,465,535 (-)	NCBI		GRCr8
mRatBN7.2	13	91,904,731 - 91,933,588 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	91,904,739 - 91,931,431 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	94,409,919 - 94,436,615 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	95,810,087 - 95,836,779 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	92,984,796 - 93,011,486 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	98,451,629 - 98,480,438 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	98,451,637 - 98,480,419 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	103,459,488 - 103,488,382 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	95,869,376 - 95,896,742 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	96,058,311 - 96,085,678 (-)	NCBI
Celera	13	91,452,681 - 91,479,411 (-)	NCBI		Celera
Cytogenetic Map	13	q26	NCBI

Coq8a
(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_004955406	10,180,415 - 10,217,505 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955406	10,180,415 - 10,217,450 (-)	NCBI	ChiLan1.0	ChiLan1.0

COQ8A
(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	1	22,552,550 - 22,600,426 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	22,500,916 - 22,548,235 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	202,398,986 - 202,446,255 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	207,390,883 - 207,436,008 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	207,390,883 - 207,436,008 (+)	Ensembl	panpan1.1		panPan2

COQ8A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	38,085,441 - 38,123,037 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	7	38,085,885 - 38,122,974 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	37,568,104 - 37,605,640 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	37,920,065 - 37,957,603 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	37,919,586 - 37,957,561 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	37,759,043 - 37,796,576 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	37,766,177 - 37,803,725 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	38,036,583 - 38,074,123 (-)	NCBI		UU_Cfam_GSD_1.0

Coq8a
(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_024409344	51,063,067 - 51,098,871 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936526	3,648,386 - 3,684,238 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936526	3,648,447 - 3,684,230 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

COQ8A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	14,596,599 - 14,643,772 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	14,597,237 - 14,643,394 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	17,096,715 - 17,114,950 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

COQ8A
(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	25	2,780,593 - 2,827,565 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	2,779,504 - 2,826,538 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	2,745,315 - 2,814,504 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Coq8a
(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_female_1.0 Ensembl	NW_004624771	12,274,812 - 12,316,587 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624771	12,274,812 - 12,315,007 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in COQ8A
637 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_020247.5(COQ8A):c.1800C>G (p.Val600=)	single nucleotide variant	COQ8A-related condition [RCV003962427]\|not provided [RCV000922783]\|not specified [RCV000518553]	Chr1:226986593 [GRCh38] Chr1:227174294 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002490877]\|COQ8A-related condition [RCV003962426]\|not provided [RCV000517820]\|not specified [RCV001283506]	Chr1:226986590 [GRCh38] Chr1:227174291 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.973C>T (p.Arg325Trp)	single nucleotide variant	not provided [RCV001857889]\|not specified [RCV000518617]	Chr1:226982927 [GRCh38] Chr1:227170628 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=)	single nucleotide variant	not provided [RCV001857888]\|not specified [RCV000518620]	Chr1:226986491 [GRCh38] Chr1:227174192 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=)	single nucleotide variant	not provided [RCV000899614]\|not specified [RCV000516498]	Chr1:226986692 [GRCh38] Chr1:227174393 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.784C>T (p.Arg262Trp)	single nucleotide variant	not specified [RCV000517665]	Chr1:226982080 [GRCh38] Chr1:227169781 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=)	single nucleotide variant	not provided [RCV002060229]\|not specified [RCV000517053]	Chr1:226986566 [GRCh38] Chr1:227174267 [GRCh37] Chr1:1q42.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.730+7C>T	single nucleotide variant	COQ8A-related condition [RCV003915445]\|not provided [RCV000915911]\|not specified [RCV000516724]	Chr1:226977530 [GRCh38] Chr1:227165231 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.401C>T (p.Ala134Val)	single nucleotide variant	not specified [RCV000518257]	Chr1:226965223 [GRCh38] Chr1:227152924 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1057C>T (p.Arg353Cys)	single nucleotide variant	not provided [RCV000516524]	Chr1:226983011 [GRCh38] Chr1:227170712 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+2T>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003826]	Chr1:226984237 [GRCh38] Chr1:227171938 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs)	indel	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003827]\|not provided [RCV000598604]	Chr1:226965322..226965343 [GRCh38] Chr1:227153023..227153044 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg)	single nucleotide variant	not provided [RCV002527450]\|not specified [RCV000518419]	Chr1:226983003 [GRCh38] Chr1:227170704 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.148del (p.Gln50fs)	deletion	not provided [RCV000518687]	Chr1:226961533 [GRCh38] Chr1:227149234 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1883C>G (p.Pro628Arg)	single nucleotide variant	not specified [RCV000518065]	Chr1:226986676 [GRCh38] Chr1:227174377 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	single nucleotide variant	Abnormality of the nervous system [RCV001813945]\|Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003821]\|See cases [RCV001197690]\|not provided [RCV002512725]	Chr1:226985332 [GRCh38] Chr1:227173033 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003822]	Chr1:226965719 [GRCh38] Chr1:227153420 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003823]\|not provided [RCV002512726]	Chr1:226982111 [GRCh38] Chr1:227169812 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003824]	Chr1:226982111 [GRCh38] Chr1:227169812 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003825]	Chr1:226986604..226986605 [GRCh38] Chr1:227174305..227174306 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003828]	Chr1:226984910 [GRCh38] Chr1:227172611 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	microsatellite	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003829]\|not provided [RCV000199676]	Chr1:226986539..226986541 [GRCh38] Chr1:227174240..227174242 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003830]\|Joubert syndrome 17 [RCV001258271]\|not provided [RCV000415784]\|not specified [RCV000180351]	Chr1:226982947 [GRCh38] Chr1:227170648 [GRCh37] Chr1:1q42.13	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000003831]\|not provided [RCV002472923]	Chr1:226985326 [GRCh38] Chr1:227173027 [GRCh37] Chr1:1q42.13	pathogenic\|uncertain significance
NM_020247.4(ADCK3):c.655+2574G>C	single nucleotide variant	Lung cancer [RCV000090570]	Chr1:226968311 [GRCh38] Chr1:227156012 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	copy number gain	See cases [RCV000050981]	Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	copy number gain	See cases [RCV000050581]	Chr1:223347693..248918469 [GRCh38] Chr1:223521035..249212668 [GRCh37] Chr1:221587658..247179291 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]\|See cases [RCV000051875]	Chr1:221902539..248918469 [GRCh38] Chr1:222075881..249212668 [GRCh37] Chr1:220142504..247179291 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	copy number gain	See cases [RCV000051878]	Chr1:223828500..248891309 [GRCh38] Chr1:224016202..249185508 [GRCh37] Chr1:222082825..247152131 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	copy number gain	See cases [RCV000051880]	Chr1:223887780..248891309 [GRCh38] Chr1:224075482..249185508 [GRCh37] Chr1:222142105..247152131 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	copy number gain	See cases [RCV000051861]	Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	copy number gain	See cases [RCV000051882]	Chr1:224096488..248918469 [GRCh38] Chr1:224284190..249212668 [GRCh37] Chr1:222350813..247179291 [NCBI36] Chr1:1q42.11-44	pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1	copy number loss	See cases [RCV000052311]	Chr1:224096288..227859548 [GRCh38] Chr1:224283990..228047249 [GRCh37] Chr1:222350613..226113872 [NCBI36] Chr1:1q42.11-42.13	pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]\|See cases [RCV000053955]	Chr1:221519280..228862141 [GRCh38] Chr1:221692622..228997888 [GRCh37] Chr1:219759245..227064511 [NCBI36] Chr1:1q41-42.13	pathogenic
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000660398]\|not provided [RCV002532012]	Chr1:226965042 [GRCh38] Chr1:227152743 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000600115]\|Autosomal recessive cerebellar ataxia [RCV000379956]\|not provided [RCV000676177]\|not specified [RCV000116234]	Chr1:226961502 [GRCh38] Chr1:227149203 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000614204]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000373810]\|not provided [RCV000676181]\|not specified [RCV000116235]	Chr1:226984589 [GRCh38] Chr1:227172290 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000614034]\|Autosomal recessive cerebellar ataxia [RCV000363761]\|not provided [RCV000676183]\|not specified [RCV000116236]	Chr1:226986509 [GRCh38] Chr1:227174210 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000625388]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000279311]\|not provided [RCV000676175]\|not specified [RCV000123532]	Chr1:226961448 [GRCh38] Chr1:227149149 [GRCh37] Chr1:1q42.13	benign\|uncertain significance
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001095968]\|Inborn genetic diseases [RCV002512516]\|not provided [RCV000676176]\|not specified [RCV000123533]	Chr1:226961452 [GRCh38] Chr1:227149153 [GRCh37] Chr1:1q42.13	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.78C>T (p.His26=)	single nucleotide variant	not provided [RCV000926658]\|not specified [RCV000123534]	Chr1:226961463 [GRCh38] Chr1:227149164 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000291487]\|Autosomal recessive cerebellar ataxia [RCV000376358]\|not provided [RCV000676178]\|not specified [RCV000123535]	Chr1:226965077 [GRCh38] Chr1:227152778 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000346353]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000406334]\|not provided [RCV000973011]\|not specified [RCV000123536]	Chr1:226965080 [GRCh38] Chr1:227152781 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000352436]\|Autosomal recessive cerebellar ataxia [RCV000306902]\|not provided [RCV000710072]\|not specified [RCV000123537]	Chr1:226965113 [GRCh38] Chr1:227152814 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.731-9C>T	single nucleotide variant	not provided [RCV002512517]\|not specified [RCV000123538]	Chr1:226982018 [GRCh38] Chr1:227169719 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.948C>T (p.Leu316=)	single nucleotide variant	COQ8A-related condition [RCV003952634]\|not provided [RCV000710074]\|not specified [RCV000123539]	Chr1:226982902 [GRCh38] Chr1:227170603 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000625389]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000402436]\|not provided [RCV000676179]\|not specified [RCV000123541]	Chr1:226983007 [GRCh38] Chr1:227170708 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000607124]\|COQ8A-related condition [RCV003915229]\|not provided [RCV000676180]\|not specified [RCV000123542]	Chr1:226983783 [GRCh38] Chr1:227171484 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1399-12C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001731384]\|COQ8A-related condition [RCV003975095]\|not provided [RCV002055394]\|not specified [RCV000123543]	Chr1:226984536 [GRCh38] Chr1:227172237 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.-10+8T>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000319171]\|Autosomal recessive cerebellar ataxia [RCV000273457]\|not specified [RCV000123544]	Chr1:226940407 [GRCh38] Chr1:227128108 [GRCh37] Chr1:1q42.13	benign\|likely benign
Single allele	single nucleotide variant	not provided [RCV000171455]	Chr1:227174237 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001291993]	Chr1:226982110 [GRCh38] Chr1:227169811 [GRCh37] Chr1:1q42.13	pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	copy number gain	See cases [RCV000134979]	Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	copy number gain	See cases [RCV000135839]	Chr1:223815147..248918469 [GRCh38] Chr1:224002849..249212668 [GRCh37] Chr1:222069472..247179291 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	copy number loss	See cases [RCV000135796]	Chr1:226185124..232872488 [GRCh38] Chr1:226372825..233008234 [GRCh37] Chr1:224439448..231074857 [NCBI36] Chr1:1q42.12-42.2	pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	copy number loss	See cases [RCV000136636]	Chr1:223347693..228556332 [GRCh38] Chr1:223521035..228744033 [GRCh37] Chr1:221587658..226810656 [NCBI36] Chr1:1q41-42.13	pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	copy number gain	See cases [RCV000137769]	Chr1:224022862..248918469 [GRCh38] Chr1:224210564..249212668 [GRCh37] Chr1:222277187..247179291 [NCBI36] Chr1:1q42.11-44	pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	copy number gain	See cases [RCV000142448]	Chr1:225438480..248787200 [GRCh38] Chr1:225626182..249060210 [GRCh37] Chr1:223692805..247048022 [NCBI36] Chr1:1q42.12-44	pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	copy number loss	See cases [RCV000143223]	Chr1:225382172..230418801 [GRCh38] Chr1:225569874..230554547 [GRCh37] Chr1:223636497..228621170 [NCBI36] Chr1:1q42.12-42.13	pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	copy number gain	See cases [RCV000143727]	Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44	pathogenic
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000985120]\|Cerebellar ataxia [RCV000162171]	Chr1:226986536..226986537 [GRCh38] Chr1:227174237..227174238 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.957C>T (p.Asp319=)	single nucleotide variant	not provided [RCV000724346]\|not specified [RCV000180352]	Chr1:226982911 [GRCh38] Chr1:227170612 [GRCh37] Chr1:1q42.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	copy number gain	See cases [RCV000240137]	Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13	pathogenic
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000194388]\|not provided [RCV001852541]	Chr1:226984901 [GRCh38] Chr1:227172602 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)	microsatellite	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000193346]	Chr1:226984169..226984170 [GRCh38] Chr1:227171870..227171871 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys)	single nucleotide variant	not provided [RCV000200326]	Chr1:226961396 [GRCh38] Chr1:227149097 [GRCh37] Chr1:1q42.13	likely pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000303002]\|Autosomal recessive cerebellar ataxia [RCV000364964]\|not provided [RCV000710478]	Chr1:226986504 [GRCh38] Chr1:227174205 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.664G>A (p.Val222Met)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001332317]\|not provided [RCV000196870]	Chr1:226977457 [GRCh38] Chr1:227165158 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.618G>A (p.Val206=)	single nucleotide variant	COQ8A-related condition [RCV003907729]\|not provided [RCV000710073]\|not specified [RCV000200743]	Chr1:226965700 [GRCh38] Chr1:227153401 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.1613G>A (p.Arg538Gln)	single nucleotide variant	not provided [RCV002515376]\|not specified [RCV000200860]	Chr1:226985294 [GRCh38] Chr1:227172995 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416392]\|See cases [RCV002252090]\|not provided [RCV000493536]	Chr1:226982107 [GRCh38] Chr1:227169808 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1753G>C (p.Glu585Gln)	single nucleotide variant	not provided [RCV001853166]\|not specified [RCV000197272]	Chr1:226986546 [GRCh38] Chr1:227174247 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg)	single nucleotide variant	not provided [RCV000197396]	Chr1:226961482 [GRCh38] Chr1:227149183 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000763833]\|not provided [RCV000197667]	Chr1:226984123 [GRCh38] Chr1:227171824 [GRCh37] Chr1:1q42.13	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1398+3_1398+6del	deletion	not provided [RCV000197828]	Chr1:226984236..226984239 [GRCh38] Chr1:227171937..227171940 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097756]\|COQ8A-related condition [RCV003917793]\|not provided [RCV000883624]\|not specified [RCV000516434]	Chr1:226965120 [GRCh38] Chr1:227152821 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.497A>G (p.Asp166Gly)	single nucleotide variant	not specified [RCV000198162]	Chr1:226965319 [GRCh38] Chr1:227153020 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)	single nucleotide variant	Autosomal recessive cerebellar ataxia [RCV000379708]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000264140]\|not provided [RCV000710480]	Chr1:226977490 [GRCh38] Chr1:227165191 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000279570]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000372202]\|not provided [RCV000973460]\|not specified [RCV000198439]	Chr1:226986707 [GRCh38] Chr1:227174408 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000300012]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000354907]\|not provided [RCV002059449]	Chr1:226965343 [GRCh38] Chr1:227153044 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.588G>A (p.Thr196=)	single nucleotide variant	COQ8A-related condition [RCV003401072]\|not provided [RCV000195682]	Chr1:226965410 [GRCh38] Chr1:227153111 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.526G>A (p.Glu176Lys)	single nucleotide variant	not provided [RCV000199287]	Chr1:226965348 [GRCh38] Chr1:227153049 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1028A>G (p.Gln343Arg)	single nucleotide variant	not provided [RCV000195825]	Chr1:226982982 [GRCh38] Chr1:227170683 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)	duplication	ADCK3-Related Disorders [RCV000778224]\|Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416393]\|not provided [RCV000195954]	Chr1:226986631..226986632 [GRCh38] Chr1:227174332..227174333 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys)	single nucleotide variant	not provided [RCV000766351]\|not specified [RCV000199405]	Chr1:226982716 [GRCh38] Chr1:227170417 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys)	single nucleotide variant	Inborn genetic diseases [RCV002515377]\|not provided [RCV000199558]	Chr1:226986693 [GRCh38] Chr1:227174394 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1393A>C (p.Asn465His)	single nucleotide variant	not provided [RCV000196096]	Chr1:226984230 [GRCh38] Chr1:227171931 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000340629]\|Autosomal recessive cerebellar ataxia [RCV000285618]\|not provided [RCV000513828]\|not specified [RCV000196173]	Chr1:226965060 [GRCh38] Chr1:227152761 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)	single nucleotide variant	not provided [RCV001288759]\|not specified [RCV000199769]	Chr1:226961447 [GRCh38] Chr1:227149148 [GRCh37] Chr1:1q42.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln)	single nucleotide variant	not provided [RCV000199828]	Chr1:226986598 [GRCh38] Chr1:227174299 [GRCh37] Chr1:1q42.13	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg)	single nucleotide variant	not provided [RCV000895272]\|not specified [RCV001706177]	Chr1:226965207 [GRCh38] Chr1:227152908 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.445C>T (p.Pro149Ser)	single nucleotide variant	not specified [RCV000196337]	Chr1:226965267 [GRCh38] Chr1:227152968 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.655+9G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001099549]\|not provided [RCV000899948]\|not specified [RCV000196450]	Chr1:226965746 [GRCh38] Chr1:227153447 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.687G>A (p.Leu229=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000322785]\|Autosomal recessive cerebellar ataxia [RCV000260642]\|not provided [RCV002520451]	Chr1:226977480 [GRCh38] Chr1:227165181 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1399-13G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000389053]\|Autosomal recessive cerebellar ataxia [RCV000292287]\|not provided [RCV002059451]\|not specified [RCV000427681]	Chr1:226984535 [GRCh38] Chr1:227172236 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000319769]\|COQ8A-related condition [RCV003949982]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000262296]\|not provided [RCV003718153]\|not specified [RCV000441953]	Chr1:226986602 [GRCh38] Chr1:227174303 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1660-9T>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000606510]\|Autosomal recessive cerebellar ataxia [RCV000406694]\|not provided [RCV000676182]\|not specified [RCV001699288]	Chr1:226986444 [GRCh38] Chr1:227174145 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000263529]\|Autosomal recessive cerebellar ataxia [RCV000367533]\|not provided [RCV001288758]	Chr1:226965249 [GRCh38] Chr1:227152950 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.798G>A (p.Thr266=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000291087]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000343650]\|not provided [RCV000994272]	Chr1:226982094 [GRCh38] Chr1:227169795 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000302272]\|Autosomal recessive cerebellar ataxia [RCV000268092]\|not provided [RCV000710473]\|not specified [RCV000420661]	Chr1:226983786 [GRCh38] Chr1:227171487 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000334387]\|Autosomal recessive cerebellar ataxia [RCV000281570]\|not provided [RCV002059452]\|not specified [RCV001660573]	Chr1:226985325 [GRCh38] Chr1:227173026 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1398+12C>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000332170]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000270741]\|not provided [RCV002520453]	Chr1:226984247 [GRCh38] Chr1:227171948 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1256+11C>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000359320]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000271765]\|not provided [RCV002059450]	Chr1:226983865 [GRCh38] Chr1:227171566 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003152697]\|Inborn genetic diseases [RCV000210650]\|Mitochondrial disease [RCV000852404]\|not provided [RCV001853374]	Chr1:226982969 [GRCh38] Chr1:227170670 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000778972]\|Inborn genetic diseases [RCV000210698]\|not provided [RCV000482785]	Chr1:226986458 [GRCh38] Chr1:227174159 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.854-82C>T	single nucleotide variant	not provided [RCV001571126]	Chr1:226982596 [GRCh38] Chr1:227170297 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)	single nucleotide variant	COQ8A-related condition [RCV003955293]\|not provided [RCV000223978]\|not specified [RCV001640370]	Chr1:226982943 [GRCh38] Chr1:227170644 [GRCh37] Chr1:1q42.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met)	single nucleotide variant	not provided [RCV000756975]\|not specified [RCV001815010]	Chr1:226965708 [GRCh38] Chr1:227153409 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000381493]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000329143]\|not provided [RCV000991496]	Chr1:226984095 [GRCh38] Chr1:227171796 [GRCh37] Chr1:1q42.13	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1800C>T (p.Val600=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000368613]\|Autosomal recessive cerebellar ataxia [RCV000330187]\|not provided [RCV002059453]\|not specified [RCV000602139]	Chr1:226986593 [GRCh38] Chr1:227174294 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000312756]\|Autosomal recessive cerebellar ataxia [RCV000406547]\|not provided [RCV000991501]	Chr1:226965180 [GRCh38] Chr1:227152881 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000626223]\|not provided [RCV001268163]	Chr1:226984233 [GRCh38] Chr1:227171934 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic
NM_020247.5(COQ8A):c.1702G>T (p.Glu568Ter)	single nucleotide variant	not provided [RCV000342803]	Chr1:226986495 [GRCh38] Chr1:227174196 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.*184G>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000406226]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000343597]	Chr1:226986921 [GRCh38] Chr1:227174622 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416404]\|not provided [RCV000316605]	Chr1:226982996 [GRCh38] Chr1:227170697 [GRCh37] Chr1:1q42.13	pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	copy number loss	See cases [RCV000240001]	Chr1:226871745..229906954 [GRCh37] Chr1:1q42.12-42.13	uncertain significance
NM_020247.5(COQ8A):c.*133G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000340233]\|Autosomal recessive cerebellar ataxia [RCV000282981]\|not provided [RCV001533935]	Chr1:226986870 [GRCh38] Chr1:227174571 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1506+1G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000515538]\|not provided [RCV002527441]	Chr1:226984656 [GRCh38] Chr1:227172357 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.337G>A (p.Glu113Lys)	single nucleotide variant	not provided [RCV002527451]\|not specified [RCV000517197]	Chr1:226965159 [GRCh38] Chr1:227152860 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.50A>G (p.Lys17Arg)	single nucleotide variant	not specified [RCV000516337]	Chr1:226961435 [GRCh38] Chr1:227149136 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*425G>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000265813]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000376640]	Chr1:226987162 [GRCh38] Chr1:227174863 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*790A>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000276262]\|Autosomal recessive cerebellar ataxia [RCV000382400]\|not provided [RCV001785550]	Chr1:226987527 [GRCh38] Chr1:227175228 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1605G>C (p.Glu535Asp)	single nucleotide variant	not specified [RCV000516776]	Chr1:226985286 [GRCh38] Chr1:227172987 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.4(COQ8A):c.807_808insT	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001731574]\|Autosomal recessive cerebellar ataxia [RCV000385912]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000333606]\|not provided [RCV001683187]	Chr1:226987544..226987545 [GRCh38] Chr1:227175245..227175246 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.*349G>A	single nucleotide variant	Autosomal recessive cerebellar ataxia [RCV000316763]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000355080]\|not provided [RCV002510837]	Chr1:226987086 [GRCh38] Chr1:227174787 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.*727C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000364763]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000303095]\|not provided [RCV001808746]	Chr1:226987464 [GRCh38] Chr1:227175165 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.*681G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000403073]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000303981]\|not provided [RCV001683186]	Chr1:226987418 [GRCh38] Chr1:227175119 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.*150C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000290989]\|Autosomal recessive cerebellar ataxia [RCV000391966]	Chr1:226986887 [GRCh38] Chr1:227174588 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*612C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000388505]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000292343]	Chr1:226987349 [GRCh38] Chr1:227175050 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*22C>T	single nucleotide variant	Autosomal recessive cerebellar ataxia [RCV000379764]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000322865]	Chr1:226986759 [GRCh38] Chr1:227174460 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.4(COQ8A):c.-137C>A	single nucleotide variant	Autosomal recessive cerebellar ataxia [RCV000309422]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000396863]	Chr1:226940272 [GRCh38] Chr1:227127973 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*464G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000384868]\|Autosomal recessive cerebellar ataxia [RCV000328000]	Chr1:226987201 [GRCh38] Chr1:227174902 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.*613G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000349674]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000403943]	Chr1:226987350 [GRCh38] Chr1:227175051 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*230G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000313350]\|Autosomal recessive cerebellar ataxia [RCV000371236]	Chr1:226986967 [GRCh38] Chr1:227174668 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.*761G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000272539]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000325434]\|not provided [RCV001785549]	Chr1:226987498 [GRCh38] Chr1:227175199 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.*570T>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000345670]\|Autosomal recessive cerebellar ataxia [RCV000288375]	Chr1:226987307 [GRCh38] Chr1:227175008 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.818C>T (p.Ala273Val)	single nucleotide variant	not provided [RCV000386960]	Chr1:226982114 [GRCh38] Chr1:227169815 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*326C>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000263863]\|Autosomal recessive cerebellar ataxia [RCV000356082]	Chr1:226987063 [GRCh38] Chr1:227174764 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*693G>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000264361]\|Autosomal recessive cerebellar ataxia [RCV000361065]	Chr1:226987430 [GRCh38] Chr1:227175131 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs)	duplication	not provided [RCV000368271]	Chr1:226986534..226986535 [GRCh38] Chr1:227174235..227174236 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs)	deletion	not provided [RCV000371553]	Chr1:226965715..226965722 [GRCh38] Chr1:227153416..227153423 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.-113A>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000362431]\|Autosomal recessive cerebellar ataxia [RCV000277126]	Chr1:226940296 [GRCh38] Chr1:227127997 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*389dup	duplication	Autosomal recessive cerebellar ataxia [RCV000267417]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000324404]	Chr1:226987122..226987123 [GRCh38] Chr1:227174823..227174824 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.872C>T (p.Pro291Leu)	single nucleotide variant	not provided [RCV003312155]	Chr1:226982696 [GRCh38] Chr1:227170397 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1007del (p.Phe336fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000490281]	Chr1:226982960 [GRCh38] Chr1:227170661 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1815_1816delinsC (p.Glu605fs)	indel	not provided [RCV000490170]	Chr1:226986608..226986609 [GRCh38] Chr1:227174309..227174310 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.656-1038G>A	single nucleotide variant	not provided [RCV002292758]	Chr1:226976411 [GRCh38] Chr1:227164112 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.-75C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000368053]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000332116]	Chr1:226940334 [GRCh38] Chr1:227128035 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.240C>T (p.His80=)	single nucleotide variant	not provided [RCV000710071]\|not specified [RCV000516908]	Chr1:226965062 [GRCh38] Chr1:227152763 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.588+3_588+6del	deletion	not specified [RCV000517262]	Chr1:226965411..226965414 [GRCh38] Chr1:227153112..227153115 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=)	single nucleotide variant	COQ8A-related condition [RCV003979921]\|not provided [RCV001692165]\|not specified [RCV000517358]	Chr1:226982965 [GRCh38] Chr1:227170666 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000306694]\|COQ8A-related condition [RCV003940112]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000397043]\|not provided [RCV000917282]	Chr1:226986506 [GRCh38] Chr1:227174207 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000321484]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000383099]\|not provided [RCV002520452]	Chr1:226977512 [GRCh38] Chr1:227165213 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000402757]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000338891]\|not provided [RCV001850543]	Chr1:226983014 [GRCh38] Chr1:227170715 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1163-10C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000299091]\|Autosomal recessive cerebellar ataxia [RCV000360479]	Chr1:226983751 [GRCh38] Chr1:227171452 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*631C>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000300587]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000334300]	Chr1:226987368 [GRCh38] Chr1:227175069 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*252A>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000405348]\|Autosomal recessive cerebellar ataxia [RCV000313029]	Chr1:226986989 [GRCh38] Chr1:227174690 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000342870]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000404194]	Chr1:226986472 [GRCh38] Chr1:227174173 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.4(COQ8A):c.*815C>T	single nucleotide variant	Autosomal recessive cerebellar ataxia [RCV000346994]\|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [RCV000292165]\|not provided [RCV001662360]	Chr1:226987552 [GRCh38] Chr1:227175253 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001332315]\|Inborn genetic diseases [RCV000622771]\|not provided [RCV002531877]	Chr1:226986614 [GRCh38] Chr1:227174315 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic
NM_020247.5(COQ8A):c.1659+14C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001099650]\|not provided [RCV002558006]	Chr1:226985354 [GRCh38] Chr1:227173055 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.397C>T (p.Gln133Ter)	single nucleotide variant	not provided [RCV000523096]	Chr1:226965219 [GRCh38] Chr1:227152920 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.*759T>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001099740]	Chr1:226987496 [GRCh38] Chr1:227175197 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416388]\|not provided [RCV000413531]	Chr1:226982719 [GRCh38] Chr1:227170420 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic
NM_020247.5(COQ8A):c.819G>A (p.Ala273=)	single nucleotide variant	not provided [RCV000595083]	Chr1:226982115 [GRCh38] Chr1:227169816 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	copy number gain	See cases [RCV000449172]	Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44	pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3	copy number gain	See cases [RCV000449210]	Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44	pathogenic
NM_020247.5(COQ8A):c.594C>T (p.Ser198=)	single nucleotide variant	not provided [RCV002521700]\|not specified [RCV000424113]	Chr1:226965676 [GRCh38] Chr1:227153377 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys)	single nucleotide variant	COQ8A-related condition [RCV003950342]\|not provided [RCV000903058]\|not specified [RCV000428320]	Chr1:226986669 [GRCh38] Chr1:227174370 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.*9G>A	single nucleotide variant	not provided [RCV000710070]	Chr1:226986746 [GRCh38] Chr1:227174447 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097758]\|COQ8A-related condition [RCV003922701]\|not provided [RCV000883625]\|not specified [RCV000442789]	Chr1:226965206 [GRCh38] Chr1:227152907 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000515534]\|not provided [RCV000423719]	Chr1:226982126 [GRCh38] Chr1:227169827 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)	single nucleotide variant	ADCK3-Related Disorders [RCV000778971]\|Autosomal recessive ataxia due to ubiquinone deficiency [RCV001782903]\|not provided [RCV000427376]	Chr1:226982735 [GRCh38] Chr1:227170436 [GRCh37] Chr1:1q42.13	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp)	single nucleotide variant	not provided [RCV000436246]	Chr1:226983796 [GRCh38] Chr1:227171497 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter)	single nucleotide variant	Global developmental delay [RCV001527640]\|not provided [RCV000427838]	Chr1:226983826 [GRCh38] Chr1:227171527 [GRCh37] Chr1:1q42.13	pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1256+11C>T	single nucleotide variant	not provided [RCV002063483]\|not specified [RCV000426074]	Chr1:226983865 [GRCh38] Chr1:227171566 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.588+4C>T	single nucleotide variant	not provided [RCV001865320]\|not specified [RCV000426303]	Chr1:226965414 [GRCh38] Chr1:227153115 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1020C>A (p.Ser340=)	single nucleotide variant	not provided [RCV002524744]\|not specified [RCV000436999]	Chr1:226982974 [GRCh38] Chr1:227170675 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002488871]\|not provided [RCV000966782]\|not specified [RCV000420250]	Chr1:226986617 [GRCh38] Chr1:227174318 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1399-14C>T	single nucleotide variant	not provided [RCV002064976]\|not specified [RCV000430595]	Chr1:226984534 [GRCh38] Chr1:227172235 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1162+7G>C	single nucleotide variant	not provided [RCV003708530]\|not specified [RCV000437345]	Chr1:226983640 [GRCh38] Chr1:227171341 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1572+7G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001099649]\|not provided [RCV002061326]\|not specified [RCV000437492]	Chr1:226984948 [GRCh38] Chr1:227172649 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NC_000001.10:g.227150977_227195656del44680	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416405]	Chr1:226963276..227007955 [GRCh38] Chr1:227150977..227195656 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416402]\|not provided [RCV001310903]	Chr1:226984892 [GRCh38] Chr1:227172593 [GRCh37] Chr1:1q42.13	pathogenic\|not provided
NM_020247.5(COQ8A):c.1081-1_1082dup	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416399]\|not provided [RCV001865313]	Chr1:226983549..226983550 [GRCh38] Chr1:227171250..227171251 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|uncertain significance\|not provided
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416410]	Chr1:226986637 [GRCh38] Chr1:227174338 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000416409]\|not provided [RCV003558372]	Chr1:226983607 [GRCh38] Chr1:227171308 [GRCh37] Chr1:1q42.13	pathogenic\|not provided
NM_020247.5(COQ8A):c.1505_1506+21del	deletion	not provided [RCV000484631]	Chr1:226984652..226984674 [GRCh38] Chr1:227172353..227172375 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1677C>A (p.His559Gln)	single nucleotide variant	not provided [RCV000478671]	Chr1:226986470 [GRCh38] Chr1:227174171 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000500136]\|Inborn genetic diseases [RCV002524143]\|not provided [RCV002524144]	Chr1:226982725 [GRCh38] Chr1:227170426 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000500170]\|not provided [RCV001851397]\|not specified [RCV000517622]	Chr1:226983827 [GRCh38] Chr1:227171528 [GRCh37] Chr1:1q42.13	likely pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000502514]\|not provided [RCV001857069]	Chr1:226982954 [GRCh38] Chr1:227170655 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001803792]\|Inborn genetic diseases [RCV002527344]\|not provided [RCV000710481]\|not specified [RCV001814985]	Chr1:226977523 [GRCh38] Chr1:227165224 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	copy number gain	See cases [RCV000510981]	Chr1:224105294..249224684 [GRCh37] Chr1:1q42.11-44	pathogenic
NM_020247.5(COQ8A):c.942A>G (p.Lys314=)	single nucleotide variant	not specified [RCV000603065]	Chr1:226982896 [GRCh38] Chr1:227170597 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1643C>T (p.Thr548Ile)	single nucleotide variant	not specified [RCV000517554]	Chr1:226985324 [GRCh38] Chr1:227173025 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1573-20C>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000603748]\|not provided [RCV001515600]\|not specified [RCV001700243]	Chr1:226985234 [GRCh38] Chr1:227172935 [GRCh37] Chr1:1q42.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.655+3A>C	single nucleotide variant	not provided [RCV000594470]	Chr1:226965740 [GRCh38] Chr1:227153441 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1140C>T (p.Asn380=)	single nucleotide variant	not provided [RCV000902731]\|not specified [RCV000607511]	Chr1:226983611 [GRCh38] Chr1:227171312 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1110T>C (p.Ser370=)	single nucleotide variant	not specified [RCV000615855]	Chr1:226983581 [GRCh38] Chr1:227171282 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1317C>T (p.Ser439=)	single nucleotide variant	not specified [RCV000605982]	Chr1:226984154 [GRCh38] Chr1:227171855 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1833G>A (p.Arg611=)	single nucleotide variant	not specified [RCV000616232]	Chr1:226986626 [GRCh38] Chr1:227174327 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1287T>C (p.Tyr429=)	single nucleotide variant	not provided [RCV000907069]\|not specified [RCV000610816]	Chr1:226984124 [GRCh38] Chr1:227171825 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.891C>T (p.Phe297=)	single nucleotide variant	not provided [RCV002529441]\|not specified [RCV000616734]	Chr1:226982715 [GRCh38] Chr1:227170416 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.589-18T>C	single nucleotide variant	not provided [RCV002529516]\|not specified [RCV000610897]	Chr1:226965653 [GRCh38] Chr1:227153354 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001824848]\|not provided [RCV000627357]	Chr1:226965159 [GRCh38] Chr1:227152860 [GRCh37] Chr1:1q42.13	likely pathogenic\|not provided
NM_020247.5(COQ8A):c.1257-20G>C	single nucleotide variant	not provided [RCV002532773]\|not specified [RCV000611938]	Chr1:226984074 [GRCh38] Chr1:227171775 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.789C>T (p.Ile263=)	single nucleotide variant	COQ8A-related condition [RCV003953069]\|not provided [RCV000927324]	Chr1:226982085 [GRCh38] Chr1:227169786 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.853+13G>A	single nucleotide variant	not provided [RCV002531694]\|not specified [RCV000600186]	Chr1:226982162 [GRCh38] Chr1:227169863 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1334C>A (p.Thr445Lys)	single nucleotide variant	Inborn genetic diseases [RCV000623808]\|not provided [RCV002531878]	Chr1:226984171 [GRCh38] Chr1:227171872 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.32del (p.Val11fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003486311]	Chr1:226961417 [GRCh38] Chr1:227149118 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000721989]	Chr1:226986732 [GRCh38] Chr1:227174433 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1831A>G (p.Arg611Gly)	single nucleotide variant	not provided [RCV000676184]	Chr1:226986624 [GRCh38] Chr1:227174325 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	copy number gain	not provided [RCV000684700]	Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44	pathogenic
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002249431]\|not provided [RCV000710477]	Chr1:226986499 [GRCh38] Chr1:227174200 [GRCh37] Chr1:1q42.13	pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro)	single nucleotide variant	not provided [RCV000710476]	Chr1:226986469 [GRCh38] Chr1:227174170 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.13T>C (p.Leu5=)	single nucleotide variant	not provided [RCV000710475]	Chr1:226961398 [GRCh38] Chr1:227149099 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1221C>G (p.Asp407Glu)	single nucleotide variant	not provided [RCV000710474]	Chr1:226983819 [GRCh38] Chr1:227171520 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001332314]\|not provided [RCV000710472]	Chr1:226983568 [GRCh38] Chr1:227171269 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*72dup	duplication	Coenzyme Q10 deficiency, primary, 1 [RCV000721972]	Chr1:226986807..226986808 [GRCh38] Chr1:227174508..227174509 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn)	single nucleotide variant	not provided [RCV000710479]	Chr1:226965157 [GRCh38] Chr1:227152858 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1014C>T (p.Ala338=)	single nucleotide variant	not provided [RCV000710471]	Chr1:226982968 [GRCh38] Chr1:227170669 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu)	single nucleotide variant	Coenzyme Q10 deficiency, primary, 1 [RCV000721990]	Chr1:226986735 [GRCh38] Chr1:227174436 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000723312]	Chr1:226986658..226986659 [GRCh38] Chr1:227174359..227174360 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.127_128delinsA (p.Leu43fs)	indel	not provided [RCV001546173]	Chr1:226961512..226961513 [GRCh38] Chr1:227149213..227149214 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.564C>T (p.Pro188=)	single nucleotide variant	not provided [RCV001529338]	Chr1:226965386 [GRCh38] Chr1:227153087 [GRCh37] Chr1:1q42.13	likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_020247.5(COQ8A):c.1256+32del	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001548971]\|not provided [RCV001541645]	Chr1:226983884 [GRCh38] Chr1:227171585 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.730+608_854-25del	deletion	Mitochondrial disease [RCV000852402]	Chr1:226978129..226982651 [GRCh38] Chr1:227165830..227170352 [GRCh37] Chr1:1q42.13	likely pathogenic
NC_000001.11:g.226987594T>A	single nucleotide variant	not provided [RCV001679242]	Chr1:226987594 [GRCh38] Chr1:227175295 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1257-56G>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001548972]\|not provided [RCV001615294]	Chr1:226984038 [GRCh38] Chr1:227171739 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1163-2A>G	single nucleotide variant	not provided [RCV000991493]	Chr1:226983759 [GRCh38] Chr1:227171460 [GRCh37] Chr1:1q42.13	likely pathogenic
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	copy number loss	not provided [RCV001005180]	Chr1:223653722..234591807 [GRCh37] Chr1:1q41-42.2	pathogenic
NM_020247.5(COQ8A):c.1257-57G>T	single nucleotide variant	not provided [RCV001667536]	Chr1:226984037 [GRCh38] Chr1:227171738 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.731-27G>A	single nucleotide variant	not provided [RCV001581229]	Chr1:226982000 [GRCh38] Chr1:227169701 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.731-161T>C	single nucleotide variant	not provided [RCV001575390]	Chr1:226981866 [GRCh38] Chr1:227169567 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.*110G>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001096198]	Chr1:226986847 [GRCh38] Chr1:227174548 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001096082]\|not provided [RCV000906778]\|not specified [RCV001288756]	Chr1:226983560 [GRCh38] Chr1:227171261 [GRCh37] Chr1:1q42.13	benign\|likely benign\|uncertain significance
NM_020247.5(COQ8A):c.912G>A (p.Ala304=)	single nucleotide variant	not provided [RCV000949476]	Chr1:226982736 [GRCh38] Chr1:227170437 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1215G>A (p.Glu405=)	single nucleotide variant	not provided [RCV000922131]	Chr1:226983813 [GRCh38] Chr1:227171514 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1189G>A (p.Val397Met)	single nucleotide variant	not provided [RCV001068066]	Chr1:226983787 [GRCh38] Chr1:227171488 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1440C>G (p.Phe480Leu)	single nucleotide variant	not provided [RCV001068067]	Chr1:226984589 [GRCh38] Chr1:227172290 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.357C>T (p.Tyr119=)	single nucleotide variant	not provided [RCV000977331]	Chr1:226965179 [GRCh38] Chr1:227152880 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1293T>G (p.Pro431=)	single nucleotide variant	COQ8A-related condition [RCV003895567]\|not provided [RCV000916867]	Chr1:226984130 [GRCh38] Chr1:227171831 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.225A>C (p.Pro75=)	single nucleotide variant	not provided [RCV000938724]	Chr1:226965047 [GRCh38] Chr1:227152748 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.192T>C (p.His64=)	single nucleotide variant	not provided [RCV000914113]	Chr1:226965014 [GRCh38] Chr1:227152715 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.853+156G>A	single nucleotide variant	not provided [RCV000839352]	Chr1:226982305 [GRCh38] Chr1:227170006 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.730+281T>C	single nucleotide variant	not provided [RCV000832342]	Chr1:226977804 [GRCh38] Chr1:227165505 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000824890]\|not provided [RCV001593020]	Chr1:226985305..226985306 [GRCh38] Chr1:227173006..227173007 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.471C>G (p.Gly157=)	single nucleotide variant	not provided [RCV000914176]	Chr1:226965293 [GRCh38] Chr1:227152994 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.57C>T (p.Thr19=)	single nucleotide variant	not provided [RCV000914223]	Chr1:226961442 [GRCh38] Chr1:227149143 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1821C>T (p.Tyr607=)	single nucleotide variant	not provided [RCV000915996]	Chr1:226986614 [GRCh38] Chr1:227174315 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.794G>A (p.Arg265His)	single nucleotide variant	Inborn genetic diseases [RCV002550626]\|not provided [RCV000991502]	Chr1:226982090 [GRCh38] Chr1:227169791 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1507-59C>T	single nucleotide variant	not provided [RCV000830725]	Chr1:226984817 [GRCh38] Chr1:227172518 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001101633]\|COQ8A-related condition [RCV003968138]\|not provided [RCV000892143]	Chr1:226986545 [GRCh38] Chr1:227174246 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1163-50T>A	single nucleotide variant	not provided [RCV000835313]	Chr1:226983711 [GRCh38] Chr1:227171412 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.940-52C>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001548970]\|not provided [RCV000830723]	Chr1:226982842 [GRCh38] Chr1:227170543 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000824899]	Chr1:226984620 [GRCh38] Chr1:227172321 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1191G>A (p.Val397=)	single nucleotide variant	not provided [RCV000842463]	Chr1:226983789 [GRCh38] Chr1:227171490 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1660-99T>C	single nucleotide variant	not provided [RCV000836408]	Chr1:226986354 [GRCh38] Chr1:227174055 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.730+260T>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001548968]\|not provided [RCV000843353]	Chr1:226977783 [GRCh38] Chr1:227165484 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1660-262T>A	single nucleotide variant	not provided [RCV000843354]	Chr1:226986191 [GRCh38] Chr1:227173892 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1080+33T>C	single nucleotide variant	not provided [RCV000830724]	Chr1:226983067 [GRCh38] Chr1:227170768 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1081-43G>A	single nucleotide variant	not provided [RCV000830815]	Chr1:226983509 [GRCh38] Chr1:227171210 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000824898]	Chr1:226965720 [GRCh38] Chr1:227153421 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.854-81A>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001548969]\|not provided [RCV000830722]	Chr1:226982597 [GRCh38] Chr1:227170298 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1660-32C>G	single nucleotide variant	not provided [RCV000830726]	Chr1:226986421 [GRCh38] Chr1:227174122 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.178-309C>T	single nucleotide variant	not provided [RCV000828777]	Chr1:226964691 [GRCh38] Chr1:227152392 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.854-28C>T	single nucleotide variant	not provided [RCV000830911]	Chr1:226982650 [GRCh38] Chr1:227170351 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1257-9C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001096084]\|not provided [RCV000919319]	Chr1:226984085 [GRCh38] Chr1:227171786 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1011C>A (p.Ala337=)	single nucleotide variant	not provided [RCV000981322]	Chr1:226982965 [GRCh38] Chr1:227170666 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1573-52G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001549068]\|not provided [RCV000835486]	Chr1:226985202 [GRCh38] Chr1:227172903 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.655+258T>C	single nucleotide variant	not provided [RCV000832340]	Chr1:226965995 [GRCh38] Chr1:227153696 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001096083]\|not provided [RCV002554890]	Chr1:226983834 [GRCh38] Chr1:227171535 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.525C>T (p.Ala175=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001099548]\|COQ8A-related condition [RCV003973057]\|not provided [RCV002069672]\|not specified [RCV001664683]	Chr1:226965347 [GRCh38] Chr1:227153048 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097759]\|not provided [RCV001856319]	Chr1:226965289 [GRCh38] Chr1:227152990 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097845]	Chr1:226984902 [GRCh38] Chr1:227172603 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*401A>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097944]	Chr1:226987138 [GRCh38] Chr1:227174839 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000986560]\|not provided [RCV001869338]	Chr1:226984195 [GRCh38] Chr1:227171896 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1746C>T (p.Ser582=)	single nucleotide variant	not provided [RCV000914714]	Chr1:226986539 [GRCh38] Chr1:227174240 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe)	single nucleotide variant	not provided [RCV000991498]	Chr1:226986508 [GRCh38] Chr1:227174209 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del)	microsatellite	not provided [RCV000991503]	Chr1:226982902..226982904 [GRCh38] Chr1:227170603..227170605 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.637C>G (p.Arg213Gly)	single nucleotide variant	not provided [RCV000994271]	Chr1:226965719 [GRCh38] Chr1:227153420 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001334064]\|not provided [RCV000991495]	Chr1:226983845 [GRCh38] Chr1:227171546 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser)	single nucleotide variant	not provided [RCV000991497]	Chr1:226984925 [GRCh38] Chr1:227172626 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1813G>A (p.Glu605Lys)	single nucleotide variant	not provided [RCV000991499]	Chr1:226986606 [GRCh38] Chr1:227174307 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097757]\|not provided [RCV000991500]	Chr1:226965136 [GRCh38] Chr1:227152837 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	copy number gain	not provided [RCV000845852]	Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44	pathogenic
NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet)	indel	Mitochondrial disease [RCV000852403]	Chr1:226982983..226982984 [GRCh38] Chr1:227170684..227170685 [GRCh37] Chr1:1q42.13	likely pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226853676-227246753)x1	copy number loss	not provided [RCV000845932]	Chr1:226853676..227246753 [GRCh37] Chr1:1q42.12-42.13	uncertain significance
NM_020247.5(COQ8A):c.1150A>G (p.Met384Val)	single nucleotide variant	not provided [RCV000994273]	Chr1:226983621 [GRCh38] Chr1:227171322 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000995683]	Chr1:226961560 [GRCh38] Chr1:227149261 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.656-1G>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000995684]\|not provided [RCV002549916]	Chr1:226977448 [GRCh38] Chr1:227165149 [GRCh37] Chr1:1q42.13	pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV000995685]	Chr1:226982967 [GRCh38] Chr1:227170668 [GRCh37] Chr1:1q42.13	likely pathogenic
GRCh37/hg19 1q42.13(chr1:227149087-227149264)	copy number loss	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001195130]	Chr1:227149087..227149264 [GRCh37] Chr1:1q42.13	pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	copy number gain	not provided [RCV001005175]	Chr1:219916966..239004378 [GRCh37] Chr1:1q41-43	pathogenic
NM_020247.5(COQ8A):c.812G>A (p.Arg271His)	single nucleotide variant	See cases [RCV001197689]\|not provided [RCV002560240]	Chr1:226982108 [GRCh38] Chr1:227169809 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1132G>A (p.Val378Met)	single nucleotide variant	not provided [RCV001663624]	Chr1:226983603 [GRCh38] Chr1:227171304 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.741C>T (p.Ala247=)	single nucleotide variant	not provided [RCV002032653]\|not specified [RCV001663629]	Chr1:226982037 [GRCh38] Chr1:227169738 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.589-130G>A	single nucleotide variant	not provided [RCV001546227]	Chr1:226965541 [GRCh38] Chr1:227153242 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-53G>A	single nucleotide variant	not provided [RCV001716820]	Chr1:226977396 [GRCh38] Chr1:227165097 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1671C>T (p.Asp557=)	single nucleotide variant	not provided [RCV001635663]	Chr1:226986464 [GRCh38] Chr1:227174165 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1660-268A>G	single nucleotide variant	not provided [RCV001561161]	Chr1:226986185 [GRCh38] Chr1:227173886 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.589-3C>G	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001647226]\|not provided [RCV002546249]	Chr1:226965668 [GRCh38] Chr1:227153369 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001647228]	Chr1:226984213 [GRCh38] Chr1:227171914 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.921G>A (p.Met307Ile)	single nucleotide variant	not provided [RCV001663630]	Chr1:226982745 [GRCh38] Chr1:227170446 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.730+209C>T	single nucleotide variant	not provided [RCV001589591]	Chr1:226977732 [GRCh38] Chr1:227165433 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.57C>G (p.Thr19=)	single nucleotide variant	not provided [RCV000932418]	Chr1:226961442 [GRCh38] Chr1:227149143 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097843]\|not provided [RCV000942294]	Chr1:226984232 [GRCh38] Chr1:227171933 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)	single nucleotide variant	not provided [RCV001093210]	Chr1:226986598 [GRCh38] Chr1:227174299 [GRCh37] Chr1:1q42.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002488014]\|COQ8A-related condition [RCV003895680]\|not provided [RCV000934574]	Chr1:226984923 [GRCh38] Chr1:227172624 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001101634]\|not provided [RCV000889186]	Chr1:226986569 [GRCh38] Chr1:227174270 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.309G>A (p.Ala103=)	single nucleotide variant	not provided [RCV000913982]	Chr1:226965131 [GRCh38] Chr1:227152832 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.853+199G>C	single nucleotide variant	not provided [RCV001561744]	Chr1:226982348 [GRCh38] Chr1:227170049 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1174G>A (p.Glu392Lys)	single nucleotide variant	not provided [RCV000991494]	Chr1:226983772 [GRCh38] Chr1:227171473 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1660-212G>A	single nucleotide variant	not provided [RCV001560418]	Chr1:226986241 [GRCh38] Chr1:227173942 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.731-255G>A	single nucleotide variant	not provided [RCV001574401]	Chr1:226981772 [GRCh38] Chr1:227169473 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-36C>T	single nucleotide variant	not provided [RCV001636224]	Chr1:226977413 [GRCh38] Chr1:227165114 [GRCh37] Chr1:1q42.13	benign
NC_000001.11:g.226987666G>T	single nucleotide variant	not provided [RCV001652619]	Chr1:226987666 [GRCh38] Chr1:227175367 [GRCh37] Chr1:1q42.13	benign
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	copy number loss	not provided [RCV001005178]	Chr1:222641389..228137574 [GRCh37] Chr1:1q41-42.13	pathogenic
NM_020247.5(COQ8A):c.1257-59_1257-58insT	insertion	not provided [RCV001718537]	Chr1:226984035..226984036 [GRCh38] Chr1:227171736..227171737 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097842]\|not provided [RCV002556000]	Chr1:226984180 [GRCh38] Chr1:227171881 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001101527]	Chr1:226982678 [GRCh38] Chr1:227170379 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	copy number gain	See cases [RCV001194578]	Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44	pathogenic
NM_020247.5(COQ8A):c.127del (p.Leu43fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001647227]	Chr1:226961510 [GRCh38] Chr1:227149211 [GRCh37] Chr1:1q42.13	pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	copy number gain	See cases [RCV001007407]	Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44	pathogenic
NM_020247.5(COQ8A):c.853+47G>A	single nucleotide variant	not provided [RCV001565610]	Chr1:226982196 [GRCh38] Chr1:227169897 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1660-1G>A	single nucleotide variant	not provided [RCV001663628]	Chr1:226986452 [GRCh38] Chr1:227174153 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1398+22G>C	single nucleotide variant	not provided [RCV001649606]	Chr1:226984257 [GRCh38] Chr1:227171958 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.297C>T (p.Pro99=)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097755]\|COQ8A-related condition [RCV003928699]\|not provided [RCV002554914]	Chr1:226965119 [GRCh38] Chr1:227152820 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097844]\|not provided [RCV002554915]	Chr1:226984599 [GRCh38] Chr1:227172300 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001249827]	Chr1:226982132 [GRCh38] Chr1:227169833 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)	deletion	Coenzyme Q10 deficiency, primary, 1 [RCV001195421]	Chr1:226965098..226965102 [GRCh38] Chr1:227152799..227152803 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.*497C>T	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001097945]	Chr1:226987234 [GRCh38] Chr1:227174935 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.*234G>A	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001096199]	Chr1:226986971 [GRCh38] Chr1:227174672 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1383_1384insTTTGG (p.Glu462fs)	insertion	See cases [RCV001196659]	Chr1:226984219..226984220 [GRCh38] Chr1:227171920..227171921 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001095969]\|not provided [RCV003769042]	Chr1:226961501 [GRCh38] Chr1:227149202 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001101635]\|not provided [RCV001664687]	Chr1:226986729 [GRCh38] Chr1:227174430 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001253292]\|not provided [RCV002570529]\|not specified [RCV001815031]	Chr1:226986598 [GRCh38] Chr1:227174299 [GRCh37] Chr1:1q42.13	pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1332C>T (p.Thr444=)	single nucleotide variant	not provided [RCV002073099]\|not specified [RCV001663625]	Chr1:226984169 [GRCh38] Chr1:227171870 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp)	single nucleotide variant	not provided [RCV001663627]	Chr1:226985293 [GRCh38] Chr1:227172994 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.798_823dup (p.Leu275fs)	duplication	not provided [RCV001267944]	Chr1:226982089..226982090 [GRCh38] Chr1:227169790..227169791 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001334066]\|not provided [RCV001871854]	Chr1:226986470 [GRCh38] Chr1:227174171 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.248dup (p.His85fs)	duplication	not provided [RCV001268595]	Chr1:226965069..226965070 [GRCh38] Chr1:227152770..227152771 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001267871]	Chr1:226982140 [GRCh38] Chr1:227169841 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1])	microsatellite	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001267872]\|not provided [RCV002537704]	Chr1:226985272..226985277 [GRCh38] Chr1:227172973..227172978 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.178-99G>A	single nucleotide variant	not provided [RCV001545703]	Chr1:226964901 [GRCh38] Chr1:227152602 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1163-54G>T	single nucleotide variant	not provided [RCV001581394]	Chr1:226983707 [GRCh38] Chr1:227171408 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.909C>T (p.Ser303=)	single nucleotide variant	COQ8A-related condition [RCV003918833]\|not provided [RCV002070098]\|not specified [RCV001289221]	Chr1:226982733 [GRCh38] Chr1:227170434 [GRCh37] Chr1:1q42.13	benign\|likely benign
NM_020247.5(COQ8A):c.150G>T (p.Gln50His)	single nucleotide variant	not provided [RCV001663626]	Chr1:226961535 [GRCh38] Chr1:227149236 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1812G>A (p.Glu604=)	single nucleotide variant	not provided [RCV001288757]	Chr1:226986605 [GRCh38] Chr1:227174306 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.771G>A (p.Glu257=)	single nucleotide variant	not provided [RCV001289220]	Chr1:226982067 [GRCh38] Chr1:227169768 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001332316]	Chr1:226965085 [GRCh38] Chr1:227152786 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1535G>A (p.Arg512Gln)	single nucleotide variant	not provided [RCV001322072]	Chr1:226984904 [GRCh38] Chr1:227172605 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1615dup (p.Ala539fs)	duplication	Coenzyme Q10 deficiency, primary, 4 [RCV001334065]	Chr1:226985293..226985294 [GRCh38] Chr1:227172994..227172995 [GRCh37] Chr1:1q42.13	pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NM_020247.5(COQ8A):c.260C>T (p.Ala87Val)	single nucleotide variant	not provided [RCV001337592]	Chr1:226965082 [GRCh38] Chr1:227152783 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.344C>G (p.Pro115Arg)	single nucleotide variant	not provided [RCV001351313]	Chr1:226965166 [GRCh38] Chr1:227152867 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1256+12G>C	single nucleotide variant	not provided [RCV001475398]	Chr1:226983866 [GRCh38] Chr1:227171567 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)	single nucleotide variant	Cerebellar ataxia [RCV001541908]	Chr1:226982146 [GRCh38] Chr1:227169847 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.655+215G>A	single nucleotide variant	not provided [RCV001535074]	Chr1:226965952 [GRCh38] Chr1:227153653 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1257-58G>T	single nucleotide variant	not provided [RCV001715678]	Chr1:226984036 [GRCh38] Chr1:227171737 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.559C>T (p.Arg187Cys)	single nucleotide variant	not provided [RCV001504554]	Chr1:226965381 [GRCh38] Chr1:227153082 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1257-56G>C	single nucleotide variant	not provided [RCV001716182]	Chr1:226984038 [GRCh38] Chr1:227171739 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.629_630del (p.Arg210fs)	deletion	not provided [RCV001388785]	Chr1:226965711..226965712 [GRCh38] Chr1:227153412..227153413 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001728079]	Chr1:226983008 [GRCh38] Chr1:227170709 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1313G>A (p.Cys438Tyr)	single nucleotide variant	not provided [RCV001763765]	Chr1:226984150 [GRCh38] Chr1:227171851 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.892G>C (p.Glu298Gln)	single nucleotide variant	not provided [RCV001763764]	Chr1:226982716 [GRCh38] Chr1:227170417 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1942T>C (p.Ter648Gln)	single nucleotide variant	not provided [RCV001786951]	Chr1:226986735 [GRCh38] Chr1:227174436 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1099_1109del (p.Gln366_Ser367insTer)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001785894]	Chr1:226983567..226983577 [GRCh38] Chr1:227171268..227171278 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV001802632]	Chr1:226984122 [GRCh38] Chr1:227171823 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.940-6C>G	single nucleotide variant	not provided [RCV001915046]	Chr1:226982888 [GRCh38] Chr1:227170589 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1753G>A (p.Glu585Lys)	single nucleotide variant	not provided [RCV001988482]	Chr1:226986546 [GRCh38] Chr1:227174247 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1599C>A (p.Asp533Glu)	single nucleotide variant	not provided [RCV001874705]	Chr1:226985280 [GRCh38] Chr1:227172981 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=)	single nucleotide variant	COQ8A-related condition [RCV003941171]\|not provided [RCV001840884]	Chr1:226984556 [GRCh38] Chr1:227172257 [GRCh37] Chr1:1q42.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.392C>T (p.Pro131Leu)	single nucleotide variant	not provided [RCV001874408]	Chr1:226965214 [GRCh38] Chr1:227152915 [GRCh37] Chr1:1q42.13	uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)dup	duplication	not provided [RCV001928108]	Chr1:225591005..227174438 [GRCh37] Chr1:1q42.12-42.13	uncertain significance
NM_020247.5(COQ8A):c.1325T>G (p.Val442Gly)	single nucleotide variant	not provided [RCV002045264]	Chr1:226984162 [GRCh38] Chr1:227171863 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.493C>G (p.Gln165Glu)	single nucleotide variant	not provided [RCV002003944]	Chr1:226965315 [GRCh38] Chr1:227153016 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1518G>A (p.Leu506=)	single nucleotide variant	not provided [RCV001894297]	Chr1:226984887 [GRCh38] Chr1:227172588 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	copy number gain	not specified [RCV002052845]	Chr1:221303919..227461343 [GRCh37] Chr1:1q41-42.13	pathogenic
NM_020247.5(COQ8A):c.1237G>A (p.Ala413Thr)	single nucleotide variant	not provided [RCV002022807]	Chr1:226983835 [GRCh38] Chr1:227171536 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.491dup (p.His164fs)	duplication	not provided [RCV001909948]	Chr1:226965312..226965313 [GRCh38] Chr1:227153013..227153014 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.721G>T (p.Asp241Tyr)	single nucleotide variant	not provided [RCV001913726]	Chr1:226977514 [GRCh38] Chr1:227165215 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1720G>A (p.Glu574Lys)	single nucleotide variant	not provided [RCV001987293]	Chr1:226986513 [GRCh38] Chr1:227174214 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	copy number loss	not specified [RCV002052878]	Chr1:226131690..231908227 [GRCh37] Chr1:1q42.12-42.2	likely pathogenic
NM_020247.5(COQ8A):c.503C>A (p.Ser168Tyr)	single nucleotide variant	not provided [RCV001967855]	Chr1:226965325 [GRCh38] Chr1:227153026 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002503331]\|not provided [RCV001823378]	Chr1:226983001 [GRCh38] Chr1:227170702 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.776A>G (p.Asn259Ser)	single nucleotide variant	not provided [RCV001985489]	Chr1:226982072 [GRCh38] Chr1:227169773 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1018T>G (p.Ser340Ala)	single nucleotide variant	not provided [RCV001909666]	Chr1:226982972 [GRCh38] Chr1:227170673 [GRCh37] Chr1:1q42.13	uncertain significance
NC_000001.11:g.226987594T>G	single nucleotide variant	not provided [RCV001847457]	Chr1:226987594 [GRCh38] Chr1:227175295 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter)	single nucleotide variant	not provided [RCV001946836]	Chr1:226982926 [GRCh38] Chr1:227170627 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1919_*1del (p.Tyr640_Ter648delinsXaa)	deletion	not provided [RCV001824501]	Chr1:226986712..226986738 [GRCh38] Chr1:227174413..227174439 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn)	single nucleotide variant	not provided [RCV001825311]	Chr1:226986510 [GRCh38] Chr1:227174211 [GRCh37] Chr1:1q42.13	uncertain significance\|not provided
NC_000001.11:g.226987720C>T	single nucleotide variant	not provided [RCV001837676]	Chr1:226987720 [GRCh38] Chr1:227175421 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1021A>G (p.Ile341Val)	single nucleotide variant	not provided [RCV002000315]	Chr1:226982975 [GRCh38] Chr1:227170676 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.742G>A (p.Val248Met)	single nucleotide variant	Inborn genetic diseases [RCV002558427]\|not provided [RCV001943865]	Chr1:226982038 [GRCh38] Chr1:227169739 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys)	single nucleotide variant	not provided [RCV001932517]	Chr1:226983844 [GRCh38] Chr1:227171545 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1610T>G (p.Val537Gly)	single nucleotide variant	not provided [RCV001901989]	Chr1:226985291 [GRCh38] Chr1:227172992 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1383G>C (p.Gln461His)	single nucleotide variant	not provided [RCV001957586]	Chr1:226984220 [GRCh38] Chr1:227171921 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1358T>C (p.Leu453Pro)	single nucleotide variant	not provided [RCV001990083]	Chr1:226984195 [GRCh38] Chr1:227171896 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1266_1267insT (p.Lys423Ter)	insertion	not provided [RCV001941883]	Chr1:226984103..226984104 [GRCh38] Chr1:227171804..227171805 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.401C>G (p.Ala134Gly)	single nucleotide variant	not provided [RCV001888050]	Chr1:226965223 [GRCh38] Chr1:227152924 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.137C>T (p.Thr46Met)	single nucleotide variant	not provided [RCV001932862]	Chr1:226961522 [GRCh38] Chr1:227149223 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1055G>A (p.Gly352Asp)	single nucleotide variant	not provided [RCV001963485]	Chr1:226983009 [GRCh38] Chr1:227170710 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1409A>G (p.Asn470Ser)	single nucleotide variant	Inborn genetic diseases [RCV002553527]\|not provided [RCV001878065]	Chr1:226984558 [GRCh38] Chr1:227172259 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.478C>T (p.Arg160Ter)	single nucleotide variant	not provided [RCV001938228]	Chr1:226965300 [GRCh38] Chr1:227153001 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.565G>A (p.Glu189Lys)	single nucleotide variant	not provided [RCV002015346]	Chr1:226965387 [GRCh38] Chr1:227153088 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.754A>G (p.Ser252Gly)	single nucleotide variant	not provided [RCV001883506]	Chr1:226982050 [GRCh38] Chr1:227169751 [GRCh37] Chr1:1q42.13	uncertain significance
NC_000001.10:g.(?_227149087)_(227174438_?)del	deletion	not provided [RCV001963230]	Chr1:227149087..227174438 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.178G>A (p.Gly60Ser)	single nucleotide variant	not provided [RCV001976393]	Chr1:226965000 [GRCh38] Chr1:227152701 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.853+10C>T	single nucleotide variant	not provided [RCV001935152]	Chr1:226982159 [GRCh38] Chr1:227169860 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.1106A>G (p.Asn369Ser)	single nucleotide variant	not provided [RCV001920663]	Chr1:226983577 [GRCh38] Chr1:227171278 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1629G>T (p.Glu543Asp)	single nucleotide variant	not provided [RCV002050777]	Chr1:226985310 [GRCh38] Chr1:227173011 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1080+1G>A	single nucleotide variant	not provided [RCV001995217]	Chr1:226983035 [GRCh38] Chr1:227170736 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.950A>G (p.Asn317Ser)	single nucleotide variant	not provided [RCV001876795]	Chr1:226982904 [GRCh38] Chr1:227170605 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1001G>A (p.Arg334Gln)	single nucleotide variant	not provided [RCV002050209]	Chr1:226982955 [GRCh38] Chr1:227170656 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.777T>A (p.Asn259Lys)	single nucleotide variant	not provided [RCV001875542]	Chr1:226982073 [GRCh38] Chr1:227169774 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.211A>T (p.Asn71Tyr)	single nucleotide variant	not provided [RCV001904534]	Chr1:226965033 [GRCh38] Chr1:227152734 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1256+12G>A	single nucleotide variant	not provided [RCV001956610]	Chr1:226983866 [GRCh38] Chr1:227171567 [GRCh37] Chr1:1q42.13	likely benign\|uncertain significance
NM_020247.5(COQ8A):c.1681G>A (p.Asp561Asn)	single nucleotide variant	not provided [RCV001886318]	Chr1:226986474 [GRCh38] Chr1:227174175 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1054G>A (p.Gly352Ser)	single nucleotide variant	not provided [RCV002033173]	Chr1:226983008 [GRCh38] Chr1:227170709 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1284_1286del (p.Tyr429del)	deletion	not provided [RCV001923501]	Chr1:226984121..226984123 [GRCh38] Chr1:227171822..227171824 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.641T>G (p.Leu214Arg)	single nucleotide variant	not provided [RCV001937432]	Chr1:226965723 [GRCh38] Chr1:227153424 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1003C>T (p.Pro335Ser)	single nucleotide variant	not provided [RCV002033279]	Chr1:226982957 [GRCh38] Chr1:227170658 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1777G>A (p.Val593Ile)	single nucleotide variant	not provided [RCV001901280]	Chr1:226986570 [GRCh38] Chr1:227174271 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+1_1398+5del	deletion	not provided [RCV002027763]	Chr1:226984235..226984239 [GRCh38] Chr1:227171936..227171940 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1521T>G (p.Asp507Glu)	single nucleotide variant	not provided [RCV001902532]	Chr1:226984890 [GRCh38] Chr1:227172591 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1090G>A (p.Val364Met)	single nucleotide variant	not provided [RCV001866912]	Chr1:226983561 [GRCh38] Chr1:227171262 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003333195]\|not provided [RCV001980175]	Chr1:226982081 [GRCh38] Chr1:227169782 [GRCh37] Chr1:1q42.13	uncertain significance
NC_000001.10:g.(?_227165130)_(227174438_?)del	deletion	not provided [RCV001958681]	Chr1:227165130..227174438 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1276C>G (p.Pro426Ala)	single nucleotide variant	not provided [RCV002018936]	Chr1:226984113 [GRCh38] Chr1:227171814 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.739G>C (p.Ala247Pro)	single nucleotide variant	not provided [RCV001975611]	Chr1:226982035 [GRCh38] Chr1:227169736 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1877G>A (p.Arg626His)	single nucleotide variant	not provided [RCV001901596]	Chr1:226986670 [GRCh38] Chr1:227174371 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1922G>C (p.Cys641Ser)	single nucleotide variant	not provided [RCV001901585]	Chr1:226986715 [GRCh38] Chr1:227174416 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.724C>T (p.Pro242Ser)	single nucleotide variant	not provided [RCV001973923]	Chr1:226977517 [GRCh38] Chr1:227165218 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1252T>C (p.Phe418Leu)	single nucleotide variant	not provided [RCV001875186]	Chr1:226983850 [GRCh38] Chr1:227171551 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.535G>A (p.Glu179Lys)	single nucleotide variant	not provided [RCV001877794]	Chr1:226965357 [GRCh38] Chr1:227153058 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.968A>G (p.Asn323Ser)	single nucleotide variant	not provided [RCV001919814]	Chr1:226982922 [GRCh38] Chr1:227170623 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1410C>T (p.Asn470=)	single nucleotide variant	not provided [RCV002187598]	Chr1:226984559 [GRCh38] Chr1:227172260 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1507-4C>G	single nucleotide variant	not provided [RCV002192265]	Chr1:226984872 [GRCh38] Chr1:227172573 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.854-12C>T	single nucleotide variant	not provided [RCV002125613]	Chr1:226982666 [GRCh38] Chr1:227170367 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1256+15C>T	single nucleotide variant	not provided [RCV002168922]	Chr1:226983869 [GRCh38] Chr1:227171570 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.954C>T (p.Asn318=)	single nucleotide variant	not provided [RCV002208234]	Chr1:226982908 [GRCh38] Chr1:227170609 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.178-17G>T	single nucleotide variant	not provided [RCV002149106]	Chr1:226964983 [GRCh38] Chr1:227152684 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1399-9T>C	single nucleotide variant	not provided [RCV002206796]	Chr1:226984539 [GRCh38] Chr1:227172240 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.259G>A (p.Ala87Thr)	single nucleotide variant	not provided [RCV002146878]	Chr1:226965081 [GRCh38] Chr1:227152782 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1080+7G>A	single nucleotide variant	not provided [RCV002089217]	Chr1:226983041 [GRCh38] Chr1:227170742 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-15C>T	single nucleotide variant	not provided [RCV002128778]	Chr1:226977434 [GRCh38] Chr1:227165135 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1506+19dup	duplication	not provided [RCV002072531]	Chr1:226984669..226984670 [GRCh38] Chr1:227172370..227172371 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1660-14C>T	single nucleotide variant	not provided [RCV002191298]	Chr1:226986439 [GRCh38] Chr1:227174140 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1080+16C>T	single nucleotide variant	not provided [RCV002125289]	Chr1:226983050 [GRCh38] Chr1:227170751 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1506+13G>A	single nucleotide variant	not provided [RCV002210348]	Chr1:226984668 [GRCh38] Chr1:227172369 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1710C>T (p.Phe570=)	single nucleotide variant	not provided [RCV002215979]	Chr1:226986503 [GRCh38] Chr1:227174204 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly)	single nucleotide variant	not provided [RCV002193337]	Chr1:226984215 [GRCh38] Chr1:227171916 [GRCh37] Chr1:1q42.13	likely benign\|conflicting interpretations of pathogenicity
NM_020247.5(COQ8A):c.1162+12G>A	single nucleotide variant	not provided [RCV002151535]	Chr1:226983645 [GRCh38] Chr1:227171346 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1573-11C>T	single nucleotide variant	not provided [RCV002145099]	Chr1:226985243 [GRCh38] Chr1:227172944 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1827G>T (p.Leu609=)	single nucleotide variant	not provided [RCV002094879]	Chr1:226986620 [GRCh38] Chr1:227174321 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.279C>T (p.Phe93=)	single nucleotide variant	COQ8A-related condition [RCV003958834]\|not provided [RCV002110641]	Chr1:226965101 [GRCh38] Chr1:227152802 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1507-19C>G	single nucleotide variant	not provided [RCV002171689]	Chr1:226984857 [GRCh38] Chr1:227172558 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1507-15T>C	single nucleotide variant	not provided [RCV002089789]	Chr1:226984861 [GRCh38] Chr1:227172562 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.178-17G>A	single nucleotide variant	not provided [RCV002193670]	Chr1:226964983 [GRCh38] Chr1:227152684 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1081-4dup	duplication	not provided [RCV002196765]	Chr1:226983547..226983548 [GRCh38] Chr1:227171248..227171249 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1866G>A (p.Lys622=)	single nucleotide variant	not provided [RCV002194104]	Chr1:226986659 [GRCh38] Chr1:227174360 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.589-13C>T	single nucleotide variant	not provided [RCV002182143]	Chr1:226965658 [GRCh38] Chr1:227153359 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1080+10C>T	single nucleotide variant	not provided [RCV002164742]	Chr1:226983044 [GRCh38] Chr1:227170745 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1081-6C>T	single nucleotide variant	not provided [RCV002119326]	Chr1:226983546 [GRCh38] Chr1:227171247 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.939+13G>A	single nucleotide variant	not provided [RCV002181118]	Chr1:226982776 [GRCh38] Chr1:227170477 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1413C>T (p.Ile471=)	single nucleotide variant	not provided [RCV002101882]	Chr1:226984562 [GRCh38] Chr1:227172263 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.588+14_588+15delinsTT	indel	not provided [RCV002179539]	Chr1:226965424..226965425 [GRCh38] Chr1:227153125..227153126 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1572+16C>G	single nucleotide variant	not provided [RCV002181730]	Chr1:226984957 [GRCh38] Chr1:227172658 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.730+7C>G	single nucleotide variant	not provided [RCV002082120]	Chr1:226977530 [GRCh38] Chr1:227165231 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.178-8C>T	single nucleotide variant	not provided [RCV002164049]	Chr1:226964992 [GRCh38] Chr1:227152693 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.25A>G (p.Ile9Val)	single nucleotide variant	not provided [RCV002178126]	Chr1:226961410 [GRCh38] Chr1:227149111 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.822A>T (p.Ala274=)	single nucleotide variant	not provided [RCV002204568]	Chr1:226982118 [GRCh38] Chr1:227169819 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1399-11G>A	single nucleotide variant	not provided [RCV002164303]	Chr1:226984537 [GRCh38] Chr1:227172238 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.696C>T (p.Val232=)	single nucleotide variant	not provided [RCV002217146]	Chr1:226977489 [GRCh38] Chr1:227165190 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.99A>C (p.Gly33=)	single nucleotide variant	not provided [RCV002098876]	Chr1:226961484 [GRCh38] Chr1:227149185 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.731-8G>A	single nucleotide variant	not provided [RCV002200623]	Chr1:226982019 [GRCh38] Chr1:227169720 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.54G>T (p.Leu18=)	single nucleotide variant	not provided [RCV002141639]	Chr1:226961439 [GRCh38] Chr1:227149140 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1506+12G>A	single nucleotide variant	not provided [RCV002184811]	Chr1:226984667 [GRCh38] Chr1:227172368 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.564C>G (p.Pro188=)	single nucleotide variant	not provided [RCV002220853]	Chr1:226965386 [GRCh38] Chr1:227153087 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.730+8G>A	single nucleotide variant	not provided [RCV002183391]	Chr1:226977531 [GRCh38] Chr1:227165232 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1173C>T (p.Pro391=)	single nucleotide variant	not provided [RCV002098823]	Chr1:226983771 [GRCh38] Chr1:227171472 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1650C>T (p.Tyr550=)	single nucleotide variant	not provided [RCV002084208]	Chr1:226985331 [GRCh38] Chr1:227173032 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.588+19T>C	single nucleotide variant	not provided [RCV002178282]	Chr1:226965429 [GRCh38] Chr1:227153130 [GRCh37] Chr1:1q42.13	likely benign
NC_000001.10:g.(?_227149087)_(227174438_?)dup	duplication	not provided [RCV003109685]	Chr1:227149087..227174438 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)	single nucleotide variant	not provided [RCV003114965]	Chr1:226965343 [GRCh38] Chr1:227153044 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1059C>T (p.Arg353=)	single nucleotide variant	not provided [RCV003112336]	Chr1:226983013 [GRCh38] Chr1:227170714 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1032G>A (p.Val344=)	single nucleotide variant	not provided [RCV003118684]	Chr1:226982986 [GRCh38] Chr1:227170687 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.768C>G (p.Ser256=)	single nucleotide variant	not provided [RCV003121132]	Chr1:226982064 [GRCh38] Chr1:227169765 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.793C>T (p.Arg265Cys)	single nucleotide variant	not provided [RCV003121137]	Chr1:226982089 [GRCh38] Chr1:227169790 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003147899]\|not provided [RCV003482454]	Chr1:226965400 [GRCh38] Chr1:227153101 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1534C>T (p.Arg512Trp)	single nucleotide variant	not provided [RCV002285878]	Chr1:226984903 [GRCh38] Chr1:227172604 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.656-1328T>G	single nucleotide variant	not provided [RCV002262266]	Chr1:226976121 [GRCh38] Chr1:227163822 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.308C>T (p.Ala103Val)	single nucleotide variant	not provided [RCV002283297]	Chr1:226965130 [GRCh38] Chr1:227152831 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.588+1G>C	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002272750]\|not provided [RCV003096136]	Chr1:226965411 [GRCh38] Chr1:227153112 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.758C>T (p.Pro253Leu)	single nucleotide variant	not provided [RCV002286009]	Chr1:226982054 [GRCh38] Chr1:227169755 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	copy number gain	See cases [RCV002287837]	Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44	pathogenic
NM_020247.5(COQ8A):c.1671C>A (p.Asp557Glu)	single nucleotide variant	not provided [RCV002261631]	Chr1:226986464 [GRCh38] Chr1:227174165 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1470C>A (p.Asn490Lys)	single nucleotide variant	not provided [RCV002291881]	Chr1:226984619 [GRCh38] Chr1:227172320 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.656-1322T>C	single nucleotide variant	not provided [RCV002262267]	Chr1:226976127 [GRCh38] Chr1:227163828 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003141206]\|not provided [RCV003156407]	Chr1:226965687 [GRCh38] Chr1:227153388 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)	single nucleotide variant	not provided [RCV002475036]	Chr1:226965677 [GRCh38] Chr1:227153378 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.832G>C (p.Gly278Arg)	single nucleotide variant	not provided [RCV002474024]	Chr1:226982128 [GRCh38] Chr1:227169829 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)	single nucleotide variant	not provided [RCV002475041]	Chr1:226984601 [GRCh38] Chr1:227172302 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)	single nucleotide variant	not provided [RCV002475035]	Chr1:226965163 [GRCh38] Chr1:227152864 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1257-6A>C	single nucleotide variant	not provided [RCV002475037]	Chr1:226984088 [GRCh38] Chr1:227171789 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1830C>T (p.His610=)	single nucleotide variant	not provided [RCV002475038]	Chr1:226986623 [GRCh38] Chr1:227174324 [GRCh37] Chr1:1q42.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)	single nucleotide variant	not provided [RCV002475033]	Chr1:226977505 [GRCh38] Chr1:227165206 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)	single nucleotide variant	not provided [RCV002475039]	Chr1:226984227 [GRCh38] Chr1:227171928 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1189G>T (p.Val397Leu)	single nucleotide variant	not provided [RCV002303949]	Chr1:226983787 [GRCh38] Chr1:227171488 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1324G>A (p.Val442Met)	single nucleotide variant	not provided [RCV002750762]	Chr1:226984161 [GRCh38] Chr1:227171862 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1100G>C (p.Ser367Thr)	single nucleotide variant	not provided [RCV002837529]	Chr1:226983571 [GRCh38] Chr1:227171272 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1573-3C>G	single nucleotide variant	not provided [RCV003015114]	Chr1:226985251 [GRCh38] Chr1:227172952 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.871C>T (p.Pro291Ser)	single nucleotide variant	not provided [RCV003015569]	Chr1:226982695 [GRCh38] Chr1:227170396 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.976G>A (p.Asp326Asn)	single nucleotide variant	not provided [RCV002967768]	Chr1:226982930 [GRCh38] Chr1:227170631 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.178-3C>T	single nucleotide variant	Inborn genetic diseases [RCV002859432]	Chr1:226964997 [GRCh38] Chr1:227152698 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.330C>T (p.Ala110=)	single nucleotide variant	not provided [RCV002750687]	Chr1:226965152 [GRCh38] Chr1:227152853 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.252G>A (p.Pro84=)	single nucleotide variant	not provided [RCV002636209]	Chr1:226965074 [GRCh38] Chr1:227152775 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1339C>G (p.Leu447Val)	single nucleotide variant	Inborn genetic diseases [RCV002800009]\|not provided [RCV002756585]	Chr1:226984176 [GRCh38] Chr1:227171877 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1900G>C (p.Glu634Gln)	single nucleotide variant	not provided [RCV002617104]	Chr1:226986693 [GRCh38] Chr1:227174394 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.731-5C>T	single nucleotide variant	not provided [RCV002756711]	Chr1:226982022 [GRCh38] Chr1:227169723 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1570C>G (p.Gln524Glu)	single nucleotide variant	not provided [RCV002616086]	Chr1:226984939 [GRCh38] Chr1:227172640 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1802C>T (p.Pro601Leu)	single nucleotide variant	not provided [RCV002511613]	Chr1:226986595 [GRCh38] Chr1:227174296 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1257-12_1257-9del	microsatellite	not provided [RCV002839511]	Chr1:226984076..226984079 [GRCh38] Chr1:227171777..227171780 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.430A>C (p.Arg144=)	single nucleotide variant	not provided [RCV002841990]	Chr1:226965252 [GRCh38] Chr1:227152953 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.891C>G (p.Phe297Leu)	single nucleotide variant	not provided [RCV002839527]	Chr1:226982715 [GRCh38] Chr1:227170416 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.940-12C>T	single nucleotide variant	not provided [RCV002726925]	Chr1:226982882 [GRCh38] Chr1:227170583 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.560G>A (p.Arg187His)	single nucleotide variant	not provided [RCV002971103]	Chr1:226965382 [GRCh38] Chr1:227153083 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1783C>G (p.Leu595Val)	single nucleotide variant	Inborn genetic diseases [RCV002754984]\|not provided [RCV002726908]	Chr1:226986576 [GRCh38] Chr1:227174277 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.940-19C>T	single nucleotide variant	not provided [RCV002685480]	Chr1:226982875 [GRCh38] Chr1:227170576 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.435C>T (p.Leu145=)	single nucleotide variant	not provided [RCV002975127]	Chr1:226965257 [GRCh38] Chr1:227152958 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1493C>A (p.Pro498His)	single nucleotide variant	Inborn genetic diseases [RCV002794227]	Chr1:226984642 [GRCh38] Chr1:227172343 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	copy number gain	not provided [RCV002475745]	Chr1:223972939..249224684 [GRCh37] Chr1:1q41-44	pathogenic
NM_020247.5(COQ8A):c.1256+9C>T	single nucleotide variant	not provided [RCV002751405]	Chr1:226983863 [GRCh38] Chr1:227171564 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1203G>T (p.Glu401Asp)	single nucleotide variant	not provided [RCV002617392]	Chr1:226983801 [GRCh38] Chr1:227171502 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1591G>A (p.Asp531Asn)	single nucleotide variant	Inborn genetic diseases [RCV002734527]	Chr1:226985272 [GRCh38] Chr1:227172973 [GRCh37] Chr1:1q42.13	uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	copy number loss	Orofacial cleft 2 [RCV002481175]	Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13	association
NM_020247.5(COQ8A):c.177+6G>T	single nucleotide variant	not provided [RCV002755139]	Chr1:226961568 [GRCh38] Chr1:227149269 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.692A>C (p.Glu231Ala)	single nucleotide variant	Inborn genetic diseases [RCV002778601]	Chr1:226977485 [GRCh38] Chr1:227165186 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1911C>T (p.Tyr637=)	single nucleotide variant	not provided [RCV003021964]	Chr1:226986704 [GRCh38] Chr1:227174405 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1256+16G>A	single nucleotide variant	not provided [RCV002571919]	Chr1:226983870 [GRCh38] Chr1:227171571 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.312C>A (p.Pro104=)	single nucleotide variant	not provided [RCV003003279]	Chr1:226965134 [GRCh38] Chr1:227152835 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.87C>G (p.His29Gln)	single nucleotide variant	not provided [RCV003036982]	Chr1:226961472 [GRCh38] Chr1:227149173 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1199G>A (p.Arg400Gln)	single nucleotide variant	not provided [RCV002663182]	Chr1:226983797 [GRCh38] Chr1:227171498 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.655+12G>T	single nucleotide variant	not provided [RCV002623097]	Chr1:226965749 [GRCh38] Chr1:227153450 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.940-18C>G	single nucleotide variant	not provided [RCV002740196]	Chr1:226982876 [GRCh38] Chr1:227170577 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.10A>G (p.Ile4Val)	single nucleotide variant	not provided [RCV002800415]	Chr1:226961395 [GRCh38] Chr1:227149096 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1507-20C>T	single nucleotide variant	not provided [RCV002638762]	Chr1:226984856 [GRCh38] Chr1:227172557 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1256+14C>T	single nucleotide variant	not provided [RCV002866428]	Chr1:226983868 [GRCh38] Chr1:227171569 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1445_1446delinsAT (p.Phe482Tyr)	indel	not provided [RCV002795277]	Chr1:226984594..226984595 [GRCh38] Chr1:227172295..227172296 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1723C>G (p.Pro575Ala)	single nucleotide variant	not provided [RCV003036148]	Chr1:226986516 [GRCh38] Chr1:227174217 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1204C>T (p.Leu402=)	single nucleotide variant	not provided [RCV003018927]	Chr1:226983802 [GRCh38] Chr1:227171503 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1396G>A (p.Glu466Lys)	single nucleotide variant	not provided [RCV002637692]	Chr1:226984233 [GRCh38] Chr1:227171934 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.651C>T (p.Phe217=)	single nucleotide variant	not provided [RCV002621679]	Chr1:226965733 [GRCh38] Chr1:227153434 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1879T>C (p.Phe627Leu)	single nucleotide variant	not provided [RCV002570092]	Chr1:226986672 [GRCh38] Chr1:227174373 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1616C>T (p.Ala539Val)	single nucleotide variant	not provided [RCV002912656]	Chr1:226985297 [GRCh38] Chr1:227172998 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.426C>T (p.Asn142=)	single nucleotide variant	not provided [RCV002621501]	Chr1:226965248 [GRCh38] Chr1:227152949 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.734A>G (p.Lys245Arg)	single nucleotide variant	not provided [RCV002658474]	Chr1:226982030 [GRCh38] Chr1:227169731 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.853+12C>T	single nucleotide variant	not provided [RCV002618956]	Chr1:226982161 [GRCh38] Chr1:227169862 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.792G>A (p.Val264=)	single nucleotide variant	not provided [RCV003018528]	Chr1:226982088 [GRCh38] Chr1:227169789 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1817C>A (p.Thr606Asn)	single nucleotide variant	not provided [RCV002659292]	Chr1:226986610 [GRCh38] Chr1:227174311 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1080+5G>A	single nucleotide variant	not provided [RCV002761436]	Chr1:226983039 [GRCh38] Chr1:227170740 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.298G>A (p.Asp100Asn)	single nucleotide variant	not provided [RCV002705348]	Chr1:226965120 [GRCh38] Chr1:227152821 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.292G>A (p.Ala98Thr)	single nucleotide variant	not provided [RCV002638480]	Chr1:226965114 [GRCh38] Chr1:227152815 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.797C>T (p.Thr266Met)	single nucleotide variant	not provided [RCV002910049]	Chr1:226982093 [GRCh38] Chr1:227169794 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1316G>A (p.Ser439Asn)	single nucleotide variant	not provided [RCV002621571]	Chr1:226984153 [GRCh38] Chr1:227171854 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.854-12_854-10del	deletion	COQ8A-related condition [RCV003961077]\|not provided [RCV002592950]	Chr1:226982664..226982666 [GRCh38] Chr1:227170365..227170367 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1185C>G (p.Ile395Met)	single nucleotide variant	Inborn genetic diseases [RCV002737618]	Chr1:226983783 [GRCh38] Chr1:227171484 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.250_253del (p.Pro84fs)	deletion	not provided [RCV002622024]	Chr1:226965071..226965074 [GRCh38] Chr1:227152772..227152775 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.227A>G (p.Glu76Gly)	single nucleotide variant	not provided [RCV002695494]	Chr1:226965049 [GRCh38] Chr1:227152750 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1842_1844del (p.Gly615del)	deletion	not provided [RCV002691255]	Chr1:226986632..226986634 [GRCh38] Chr1:227174333..227174335 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1573-20_1573-19delinsGT	indel	not provided [RCV003000058]	Chr1:226985234..226985235 [GRCh38] Chr1:227172935..227172936 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.998A>G (p.Glu333Gly)	single nucleotide variant	not provided [RCV003019363]	Chr1:226982952 [GRCh38] Chr1:227170653 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.655+17C>T	single nucleotide variant	not provided [RCV002846636]	Chr1:226965754 [GRCh38] Chr1:227153455 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1788G>A (p.Arg596=)	single nucleotide variant	not provided [RCV002637693]	Chr1:226986581 [GRCh38] Chr1:227174282 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1843G>A (p.Gly615Ser)	single nucleotide variant	not provided [RCV003054845]	Chr1:226986636 [GRCh38] Chr1:227174337 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.169A>G (p.Lys57Glu)	single nucleotide variant	not provided [RCV003039143]	Chr1:226961554 [GRCh38] Chr1:227149255 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+3T>C	single nucleotide variant	not provided [RCV002639163]	Chr1:226984238 [GRCh38] Chr1:227171939 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.898G>T (p.Val300Leu)	single nucleotide variant	not provided [RCV002797284]	Chr1:226982722 [GRCh38] Chr1:227170423 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1122C>T (p.Asn374=)	single nucleotide variant	not provided [RCV002622025]	Chr1:226983593 [GRCh38] Chr1:227171294 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1408A>G (p.Asn470Asp)	single nucleotide variant	not provided [RCV003038619]	Chr1:226984557 [GRCh38] Chr1:227172258 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1507-16G>A	single nucleotide variant	not provided [RCV002695520]	Chr1:226984860 [GRCh38] Chr1:227172561 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1085C>T (p.Pro362Leu)	single nucleotide variant	not provided [RCV002695528]	Chr1:226983556 [GRCh38] Chr1:227171257 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1257-5C>T	single nucleotide variant	not provided [RCV002695723]	Chr1:226984089 [GRCh38] Chr1:227171790 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1659+15G>A	single nucleotide variant	not provided [RCV002621268]	Chr1:226985355 [GRCh38] Chr1:227173056 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1620A>G (p.Lys540=)	single nucleotide variant	not provided [RCV002790845]	Chr1:226985301 [GRCh38] Chr1:227173002 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.156C>T (p.Gly52=)	single nucleotide variant	not provided [RCV002741313]	Chr1:226961541 [GRCh38] Chr1:227149242 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1335A>G (p.Thr445=)	single nucleotide variant	not provided [RCV002597332]	Chr1:226984172 [GRCh38] Chr1:227171873 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.96C>T (p.Ile32=)	single nucleotide variant	not provided [RCV002667660]	Chr1:226961481 [GRCh38] Chr1:227149182 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1201G>C (p.Glu401Gln)	single nucleotide variant	not provided [RCV002712121]	Chr1:226983799 [GRCh38] Chr1:227171500 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1256+8C>T	single nucleotide variant	not provided [RCV002766632]	Chr1:226983862 [GRCh38] Chr1:227171563 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1162+19G>A	single nucleotide variant	not provided [RCV003022612]	Chr1:226983652 [GRCh38] Chr1:227171353 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.678C>T (p.Phe226=)	single nucleotide variant	COQ8A-related condition [RCV003926435]\|not provided [RCV002710773]	Chr1:226977471 [GRCh38] Chr1:227165172 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1406A>C (p.Tyr469Ser)	single nucleotide variant	not provided [RCV003039781]	Chr1:226984555 [GRCh38] Chr1:227172256 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1681dup (p.Asp561fs)	duplication	not provided [RCV002642223]	Chr1:226986472..226986473 [GRCh38] Chr1:227174173..227174174 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.611G>A (p.Arg204Gln)	single nucleotide variant	not provided [RCV002576094]	Chr1:226965693 [GRCh38] Chr1:227153394 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.506C>T (p.Pro169Leu)	single nucleotide variant	Inborn genetic diseases [RCV002697533]	Chr1:226965328 [GRCh38] Chr1:227153029 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1008C>T (p.Phe336=)	single nucleotide variant	not provided [RCV003083973]	Chr1:226982962 [GRCh38] Chr1:227170663 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.768C>T (p.Ser256=)	single nucleotide variant	not provided [RCV003085612]	Chr1:226982064 [GRCh38] Chr1:227169765 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1617G>A (p.Ala539=)	single nucleotide variant	not provided [RCV002594597]	Chr1:226985298 [GRCh38] Chr1:227172999 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.543C>A (p.Ala181=)	single nucleotide variant	not provided [RCV002710322]	Chr1:226965365 [GRCh38] Chr1:227153066 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1572+19T>A	single nucleotide variant	not provided [RCV002666811]	Chr1:226984960 [GRCh38] Chr1:227172661 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1257-14C>T	single nucleotide variant	not provided [RCV002572920]	Chr1:226984080 [GRCh38] Chr1:227171781 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1895T>C (p.Met632Thr)	single nucleotide variant	not provided [RCV002765399]	Chr1:226986688 [GRCh38] Chr1:227174389 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1478A>G (p.Asn493Ser)	single nucleotide variant	not provided [RCV002574127]	Chr1:226984627 [GRCh38] Chr1:227172328 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.853+15G>A	single nucleotide variant	not provided [RCV002576001]	Chr1:226982164 [GRCh38] Chr1:227169865 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.706A>G (p.Ser236Gly)	single nucleotide variant	not provided [RCV002625859]	Chr1:226977499 [GRCh38] Chr1:227165200 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1672G>A (p.Ala558Thr)	single nucleotide variant	not provided [RCV002594457]	Chr1:226986465 [GRCh38] Chr1:227174166 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1603G>A (p.Glu535Lys)	single nucleotide variant	not provided [RCV002851891]	Chr1:226985284 [GRCh38] Chr1:227172985 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1445T>C (p.Phe482Ser)	single nucleotide variant	not provided [RCV003007861]	Chr1:226984594 [GRCh38] Chr1:227172295 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.919A>G (p.Met307Val)	single nucleotide variant	not provided [RCV003059476]	Chr1:226982743 [GRCh38] Chr1:227170444 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1257-11C>T	single nucleotide variant	not provided [RCV002594223]	Chr1:226984083 [GRCh38] Chr1:227171784 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.69G>A (p.Val23=)	single nucleotide variant	not provided [RCV003022975]	Chr1:226961454 [GRCh38] Chr1:227149155 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1463A>G (p.Asp488Gly)	single nucleotide variant	not provided [RCV002700936]	Chr1:226984612 [GRCh38] Chr1:227172313 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.319C>G (p.Leu107Val)	single nucleotide variant	not provided [RCV002643564]	Chr1:226965141 [GRCh38] Chr1:227152842 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.515G>A (p.Gly172Asp)	single nucleotide variant	not provided [RCV002626221]	Chr1:226965337 [GRCh38] Chr1:227153038 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.68T>C (p.Val23Ala)	single nucleotide variant	not provided [RCV002711924]	Chr1:226961453 [GRCh38] Chr1:227149154 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+13C>T	single nucleotide variant	not provided [RCV002626245]	Chr1:226984248 [GRCh38] Chr1:227171949 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.939+16C>A	single nucleotide variant	not provided [RCV002575503]	Chr1:226982779 [GRCh38] Chr1:227170480 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1610T>C (p.Val537Ala)	single nucleotide variant	not provided [RCV002594020]	Chr1:226985291 [GRCh38] Chr1:227172992 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1689C>A (p.Ile563=)	single nucleotide variant	not provided [RCV002876062]	Chr1:226986482 [GRCh38] Chr1:227174183 [GRCh37] Chr1:1q42.13	likely benign
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	copy number gain	not provided [RCV002509019]	Chr1:224230307..243181599 [GRCh37] Chr1:1q42.11-43	not provided
NM_020247.5(COQ8A):c.219C>T (p.Gly73=)	single nucleotide variant	not provided [RCV002714973]	Chr1:226965041 [GRCh38] Chr1:227152742 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.56C>T (p.Thr19Ile)	single nucleotide variant	not provided [RCV002580166]	Chr1:226961441 [GRCh38] Chr1:227149142 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.393C>T (p.Pro131=)	single nucleotide variant	not provided [RCV002582135]	Chr1:226965215 [GRCh38] Chr1:227152916 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.446C>T (p.Pro149Leu)	single nucleotide variant	Inborn genetic diseases [RCV002809716]\|not provided [RCV003108180]	Chr1:226965268 [GRCh38] Chr1:227152969 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.656-6T>C	single nucleotide variant	not provided [RCV003046466]	Chr1:226977443 [GRCh38] Chr1:227165144 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.910G>A (p.Ala304Thr)	single nucleotide variant	not provided [RCV002651425]	Chr1:226982734 [GRCh38] Chr1:227170435 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.940-3C>T	single nucleotide variant	not provided [RCV002580449]	Chr1:226982891 [GRCh38] Chr1:227170592 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1080+6C>T	single nucleotide variant	not provided [RCV002650348]	Chr1:226983040 [GRCh38] Chr1:227170741 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.790G>A (p.Val264Met)	single nucleotide variant	not provided [RCV002581392]	Chr1:226982086 [GRCh38] Chr1:227169787 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+1_1398+5dup	duplication	not provided [RCV002627851]	Chr1:226984234..226984235 [GRCh38] Chr1:227171935..227171936 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.685C>G (p.Leu229Val)	single nucleotide variant	Inborn genetic diseases [RCV002717749]	Chr1:226977478 [GRCh38] Chr1:227165179 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.731-15C>T	single nucleotide variant	not provided [RCV002676226]	Chr1:226982012 [GRCh38] Chr1:227169713 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1798G>A (p.Val600Ile)	single nucleotide variant	not provided [RCV002715284]	Chr1:226986591 [GRCh38] Chr1:227174292 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.355T>C (p.Tyr119His)	single nucleotide variant	not provided [RCV002647302]	Chr1:226965177 [GRCh38] Chr1:227152878 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+7C>T	single nucleotide variant	not provided [RCV002746759]	Chr1:226984242 [GRCh38] Chr1:227171943 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.747G>A (p.Leu249=)	single nucleotide variant	not provided [RCV003027805]	Chr1:226982043 [GRCh38] Chr1:227169744 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)	deletion	Autosomal recessive ataxia due to ubiquinone deficiency [RCV002810029]	Chr1:226986631..226986644 [GRCh38] Chr1:227174332..227174345 [GRCh37] Chr1:1q42.13	likely pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.955G>A (p.Asp319Asn)	single nucleotide variant	not provided [RCV002576905]	Chr1:226982909 [GRCh38] Chr1:227170610 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1068C>T (p.Ala356=)	single nucleotide variant	not provided [RCV002579392]	Chr1:226983022 [GRCh38] Chr1:227170723 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.652G>A (p.Gly218Arg)	single nucleotide variant	not provided [RCV002578284]	Chr1:226965734 [GRCh38] Chr1:227153435 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.641T>A (p.Leu214Gln)	single nucleotide variant	Inborn genetic diseases [RCV002809153]	Chr1:226965723 [GRCh38] Chr1:227153424 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1659+19del	deletion	not provided [RCV002716647]	Chr1:226985355 [GRCh38] Chr1:227173056 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1507-17G>A	single nucleotide variant	not provided [RCV002670960]	Chr1:226984859 [GRCh38] Chr1:227172560 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1163-5C>T	single nucleotide variant	COQ8A-related condition [RCV003961120]\|not provided [RCV002716943]	Chr1:226983756 [GRCh38] Chr1:227171457 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.387G>C (p.Gly129=)	single nucleotide variant	not provided [RCV003048095]	Chr1:226965209 [GRCh38] Chr1:227152910 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.925C>T (p.Leu309=)	single nucleotide variant	not provided [RCV003010227]	Chr1:226982749 [GRCh38] Chr1:227170450 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1660-8T>C	single nucleotide variant	not provided [RCV002900097]	Chr1:226986445 [GRCh38] Chr1:227174146 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.679G>A (p.Gly227Arg)	single nucleotide variant	not provided [RCV002577610]	Chr1:226977472 [GRCh38] Chr1:227165173 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.145G>A (p.Glu49Lys)	single nucleotide variant	not provided [RCV002632223]	Chr1:226961530 [GRCh38] Chr1:227149231 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.281C>T (p.Ser94Phe)	single nucleotide variant	not provided [RCV003027230]	Chr1:226965103 [GRCh38] Chr1:227152804 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1721A>G (p.Glu574Gly)	single nucleotide variant	not provided [RCV002746658]	Chr1:226986514 [GRCh38] Chr1:227174215 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.589-12G>A	single nucleotide variant	not provided [RCV002598110]	Chr1:226965659 [GRCh38] Chr1:227153360 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-18G>A	single nucleotide variant	not provided [RCV002577931]	Chr1:226977431 [GRCh38] Chr1:227165132 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1247G>T (p.Arg416Leu)	single nucleotide variant	not provided [RCV002598126]	Chr1:226983845 [GRCh38] Chr1:227171546 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1884C>T (p.Pro628=)	single nucleotide variant	not provided [RCV002649466]	Chr1:226986677 [GRCh38] Chr1:227174378 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1572+6T>A	single nucleotide variant	not provided [RCV003029491]	Chr1:226984947 [GRCh38] Chr1:227172648 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1527G>A (p.Gly509=)	single nucleotide variant	not provided [RCV002877020]	Chr1:226984896 [GRCh38] Chr1:227172597 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.853+22_853+35dup	duplication	not provided [RCV002646046]	Chr1:226982166..226982167 [GRCh38] Chr1:227169867..227169868 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1108A>G (p.Ser370Gly)	single nucleotide variant	not provided [RCV003091136]	Chr1:226983579 [GRCh38] Chr1:227171280 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1590C>T (p.Ala530=)	single nucleotide variant	not provided [RCV002599500]	Chr1:226985271 [GRCh38] Chr1:227172972 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1209C>T (p.Ala403=)	single nucleotide variant	not provided [RCV002834879]	Chr1:226983807 [GRCh38] Chr1:227171508 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.178-2A>G	single nucleotide variant	not provided [RCV002600473]	Chr1:226964998 [GRCh38] Chr1:227152699 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1335A>C (p.Thr445=)	single nucleotide variant	not provided [RCV002603548]	Chr1:226984172 [GRCh38] Chr1:227171873 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.828G>A (p.Lys276=)	single nucleotide variant	COQ8A-related condition [RCV003936445]\|not provided [RCV002943349]	Chr1:226982124 [GRCh38] Chr1:227169825 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1558G>A (p.Asp520Asn)	single nucleotide variant	not provided [RCV002721746]	Chr1:226984927 [GRCh38] Chr1:227172628 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.877C>A (p.Leu293Met)	single nucleotide variant	not provided [RCV002653708]	Chr1:226982701 [GRCh38] Chr1:227170402 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1792C>T (p.Arg598Cys)	single nucleotide variant	not provided [RCV002943244]	Chr1:226986585 [GRCh38] Chr1:227174286 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1369G>A (p.Glu457Lys)	single nucleotide variant	not provided [RCV002653782]	Chr1:226984206 [GRCh38] Chr1:227171907 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1557C>T (p.Thr519=)	single nucleotide variant	not provided [RCV002721329]	Chr1:226984926 [GRCh38] Chr1:227172627 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1539A>C (p.Glu513Asp)	single nucleotide variant	not provided [RCV002582389]	Chr1:226984908 [GRCh38] Chr1:227172609 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1344G>A (p.Val448=)	single nucleotide variant	not provided [RCV002725738]	Chr1:226984181 [GRCh38] Chr1:227171882 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.415G>T (p.Gly139Cys)	single nucleotide variant	not provided [RCV002721450]	Chr1:226965237 [GRCh38] Chr1:227152938 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.854-17A>G	single nucleotide variant	not provided [RCV002587028]	Chr1:226982661 [GRCh38] Chr1:227170362 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.663C>T (p.Ala221=)	single nucleotide variant	not provided [RCV002653216]	Chr1:226977456 [GRCh38] Chr1:227165157 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.251C>T (p.Pro84Leu)	single nucleotide variant	not provided [RCV002585294]	Chr1:226965073 [GRCh38] Chr1:227152774 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1793G>A (p.Arg598His)	single nucleotide variant	not provided [RCV002680873]	Chr1:226986586 [GRCh38] Chr1:227174287 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1081-5C>T	single nucleotide variant	not provided [RCV002603100]	Chr1:226983547 [GRCh38] Chr1:227171248 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.262G>A (p.Gly88Arg)	single nucleotide variant	not provided [RCV002585606]	Chr1:226965084 [GRCh38] Chr1:227152785 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1399-7T>C	single nucleotide variant	not provided [RCV003071160]	Chr1:226984541 [GRCh38] Chr1:227172242 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1916A>G (p.Asn639Ser)	single nucleotide variant	not provided [RCV002605792]	Chr1:226986709 [GRCh38] Chr1:227174410 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.234G>C (p.Glu78Asp)	single nucleotide variant	not provided [RCV002635471]	Chr1:226965056 [GRCh38] Chr1:227152757 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.714C>T (p.Arg238=)	single nucleotide variant	not provided [RCV002612677]	Chr1:226977507 [GRCh38] Chr1:227165208 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)	single nucleotide variant	not provided [RCV003222657]	Chr1:226982098 [GRCh38] Chr1:227169799 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)	single nucleotide variant	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003143777]\|not provided [RCV003661014]	Chr1:226982726 [GRCh38] Chr1:227170427 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)	single nucleotide variant	not provided [RCV003227291]	Chr1:226982737 [GRCh38] Chr1:227170438 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1276C>A (p.Pro426Thr)	single nucleotide variant	not provided [RCV003227293]	Chr1:226984113 [GRCh38] Chr1:227171814 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003326710]	Chr1:226983557..226983558 [GRCh38] Chr1:227171258..227171259 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003326712]	Chr1:226984612..226984613 [GRCh38] Chr1:227172313..227172314 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.947_948del (p.Leu316fs)	microsatellite	not provided [RCV003326774]	Chr1:226982898..226982899 [GRCh38] Chr1:227170599..227170600 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.544C>T (p.Arg182Trp)	single nucleotide variant	not provided [RCV003326773]	Chr1:226965366 [GRCh38] Chr1:227153067 [GRCh37] Chr1:1q42.13	uncertain significance
NC_000001.11:g.226898653G>A	single nucleotide variant	not provided [RCV001531665]	Chr1:226898653 [GRCh38] Chr1:227086354 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)	single nucleotide variant	not provided [RCV003482682]	Chr1:226982966 [GRCh38] Chr1:227170667 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)	single nucleotide variant	not provided [RCV003482676]	Chr1:226982962 [GRCh38] Chr1:227170663 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1117AAC[1] (p.Asn374del)	microsatellite	not provided [RCV003543303]	Chr1:226983587..226983589 [GRCh38] Chr1:227171288..227171290 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1323T>C (p.His441=)	single nucleotide variant	not provided [RCV003874612]	Chr1:226984160 [GRCh38] Chr1:227171861 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1506+15G>T	single nucleotide variant	not provided [RCV003872837]	Chr1:226984670 [GRCh38] Chr1:227172371 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.62C>A (p.Ala21Glu)	single nucleotide variant	not provided [RCV003872899]	Chr1:226961447 [GRCh38] Chr1:227149148 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)	single nucleotide variant	not provided [RCV003482702]	Chr1:226986463 [GRCh38] Chr1:227174164 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.655+1G>A	single nucleotide variant	COQ8A-related condition [RCV003404295]	Chr1:226965738 [GRCh38] Chr1:227153439 [GRCh37] Chr1:1q42.13	likely pathogenic
NC_000001.11:g.226898403T>C	single nucleotide variant	not provided [RCV001726785]	Chr1:226898403 [GRCh38] Chr1:227086104 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1085del (p.Pro362fs)	deletion	COQ8A-related condition [RCV003414461]	Chr1:226983554 [GRCh38] Chr1:227171255 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.656-1256_656-1241del	deletion	not provided [RCV003414847]	Chr1:226976184..226976199 [GRCh38] Chr1:227163885..227163900 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-1169A>G	single nucleotide variant	not provided [RCV003414848]	Chr1:226976280 [GRCh38] Chr1:227163981 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-991GGGTGCG[3]	microsatellite	not provided [RCV003414849]	Chr1:226976457..226976458 [GRCh38] Chr1:227164158..227164159 [GRCh37] Chr1:1q42.13	benign
NM_020247.5(COQ8A):c.1104C>T (p.Ile368=)	single nucleotide variant	not provided [RCV003414850]	Chr1:226983575 [GRCh38] Chr1:227171276 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1048A>G (p.Lys350Glu)	single nucleotide variant	not provided [RCV003693204]	Chr1:226983002 [GRCh38] Chr1:227170703 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.588+14G>C	single nucleotide variant	not provided [RCV003849283]	Chr1:226965424 [GRCh38] Chr1:227153125 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)	duplication	not provided [RCV003693443]	Chr1:226986583..226986584 [GRCh38] Chr1:227174284..227174285 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1251G>A (p.Lys417=)	single nucleotide variant	not provided [RCV003739810]	Chr1:226983849 [GRCh38] Chr1:227171550 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1256+7C>T	single nucleotide variant	not provided [RCV003828682]	Chr1:226983861 [GRCh38] Chr1:227171562 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.924A>C (p.Pro308=)	single nucleotide variant	not provided [RCV003660580]	Chr1:226982748 [GRCh38] Chr1:227170449 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1560C>T (p.Asp520=)	single nucleotide variant	not provided [RCV003877689]	Chr1:226984929 [GRCh38] Chr1:227172630 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.876C>G (p.His292Gln)	single nucleotide variant	not provided [RCV003739232]	Chr1:226982700 [GRCh38] Chr1:227170401 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.650del (p.Phe217fs)	deletion	not provided [RCV003572265]	Chr1:226965731 [GRCh38] Chr1:227153432 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.645C>T (p.Ala215=)	single nucleotide variant	not provided [RCV003690133]	Chr1:226965727 [GRCh38] Chr1:227153428 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.670C>G (p.Leu224Val)	single nucleotide variant	not provided [RCV003875810]	Chr1:226977463 [GRCh38] Chr1:227165164 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1162+7G>A	single nucleotide variant	not provided [RCV003880908]	Chr1:226983640 [GRCh38] Chr1:227171341 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1506+16G>A	single nucleotide variant	not provided [RCV003661224]	Chr1:226984671 [GRCh38] Chr1:227172372 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1507-20_1507-18del	deletion	not provided [RCV003698507]	Chr1:226984854..226984856 [GRCh38] Chr1:227172555..227172557 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1596G>A (p.Arg532=)	single nucleotide variant	not provided [RCV003669741]	Chr1:226985277 [GRCh38] Chr1:227172978 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1755G>A (p.Glu585=)	single nucleotide variant	not provided [RCV003674423]	Chr1:226986548 [GRCh38] Chr1:227174249 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1632dup (p.Lys545fs)	duplication	not provided [RCV003667429]	Chr1:226985312..226985313 [GRCh38] Chr1:227173013..227173014 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.177+12T>C	single nucleotide variant	not provided [RCV003703103]	Chr1:226961574 [GRCh38] Chr1:227149275 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.519C>T (p.Leu173=)	single nucleotide variant	not provided [RCV003840275]	Chr1:226965341 [GRCh38] Chr1:227153042 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1464C>T (p.Asp488=)	single nucleotide variant	not provided [RCV003851857]	Chr1:226984613 [GRCh38] Chr1:227172314 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1131C>T (p.Ala377=)	single nucleotide variant	COQ8A-related condition [RCV003956575]\|not provided [RCV003816606]	Chr1:226983602 [GRCh38] Chr1:227171303 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.864T>C (p.Phe288=)	single nucleotide variant	not provided [RCV003702405]	Chr1:226982688 [GRCh38] Chr1:227170389 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1660-19C>T	single nucleotide variant	not provided [RCV003700120]	Chr1:226986434 [GRCh38] Chr1:227174135 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.853+11G>A	single nucleotide variant	not provided [RCV003811692]	Chr1:226982160 [GRCh38] Chr1:227169861 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1351T>G (p.Phe451Val)	single nucleotide variant	not provided [RCV003659021]	Chr1:226984188 [GRCh38] Chr1:227171889 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.599A>G (p.His200Arg)	single nucleotide variant	not provided [RCV003701903]	Chr1:226965681 [GRCh38] Chr1:227153382 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.656-17C>A	single nucleotide variant	not provided [RCV003723279]	Chr1:226977432 [GRCh38] Chr1:227165133 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1274_1282del (p.His425_Phe428delinsLeu)	deletion	not provided [RCV003564778]	Chr1:226984111..226984119 [GRCh38] Chr1:227171812..227171820 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1398+16C>G	single nucleotide variant	not provided [RCV003677720]	Chr1:226984251 [GRCh38] Chr1:227171952 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.322G>C (p.Gly108Arg)	single nucleotide variant	not provided [RCV003737600]	Chr1:226965144 [GRCh38] Chr1:227152845 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)	duplication	Autosomal recessive ataxia due to ubiquinone deficiency [RCV003985714]	Chr1:226985259..226985260 [GRCh38] Chr1:227172960..227172961 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1506+17G>A	single nucleotide variant	not provided [RCV003721073]	Chr1:226984672 [GRCh38] Chr1:227172373 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.656-19C>T	single nucleotide variant	not provided [RCV003858019]	Chr1:226977430 [GRCh38] Chr1:227165131 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1232_1233del (p.Glu411fs)	microsatellite	not provided [RCV003551546]	Chr1:226983827..226983828 [GRCh38] Chr1:227171528..227171529 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.901C>A (p.Arg301=)	single nucleotide variant	not provided [RCV003680288]	Chr1:226982725 [GRCh38] Chr1:227170426 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.394G>A (p.Gly132Ser)	single nucleotide variant	not provided [RCV003554626]	Chr1:226965216 [GRCh38] Chr1:227152917 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.656-10C>A	single nucleotide variant	not provided [RCV003564506]	Chr1:226977439 [GRCh38] Chr1:227165140 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.780A>G (p.Ala260=)	single nucleotide variant	not provided [RCV003823535]	Chr1:226982076 [GRCh38] Chr1:227169777 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1315dup (p.Ser439fs)	duplication	not provided [RCV003707392]	Chr1:226984151..226984152 [GRCh38] Chr1:227171852..227171853 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.853+24_853+46dup	duplication	not provided [RCV003823322]	Chr1:226982163..226982164 [GRCh38] Chr1:227169864..227169865 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.1225C>T (p.Gln409Ter)	single nucleotide variant	not provided [RCV003844083]	Chr1:226983823 [GRCh38] Chr1:227171524 [GRCh37] Chr1:1q42.13	pathogenic
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)	duplication	not provided [RCV003669359]\|not specified [RCV003155763]	Chr1:226986598..226986599 [GRCh38] Chr1:227174299..227174300 [GRCh37] Chr1:1q42.13	pathogenic\|uncertain significance
NM_020247.5(COQ8A):c.1449C>T (p.His483=)	single nucleotide variant	not provided [RCV001726786]	Chr1:226984598 [GRCh38] Chr1:227172299 [GRCh37] Chr1:1q42.13	likely benign
NM_020247.5(COQ8A):c.854-2A>G	single nucleotide variant	not provided [RCV001816568]	Chr1:226982676 [GRCh38] Chr1:227170377 [GRCh37] Chr1:1q42.13	likely pathogenic
NM_020247.5(COQ8A):c.853+7G>A	single nucleotide variant	not provided [RCV002276357]	Chr1:226982156 [GRCh38] Chr1:227169857 [GRCh37] Chr1:1q42.13	uncertain significance
NM_020247.5(COQ8A):c.1215G>C (p.Glu405Asp)	single nucleotide variant	not provided [RCV002816595]	Chr1:226983813 [GRCh38] Chr1:227171514 [GRCh37] Chr1:1q42.13	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3519
Count of miRNA genes:	856
Interacting mature miRNAs:	1032
Transcripts:	ENST00000366777, ENST00000366778, ENST00000366779, ENST00000433743, ENST00000458507, ENST00000464693, ENST00000476488, ENST00000478406, ENST00000479852, ENST00000485462, ENST00000485677, ENST00000489044
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

AL033902

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	227,171,075 - 227,171,255	UniSTS	GRCh37
Build 36	1	225,237,698 - 225,237,878	RGD	NCBI36
Celera	1	200,361,893 - 200,362,073	RGD
Cytogenetic Map	1	q42.13	UniSTS
HuRef	1	197,687,664 - 197,687,844	UniSTS

RH103923

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	227,164,339 - 227,164,465	UniSTS	GRCh37
Build 36	1	225,230,962 - 225,231,088	RGD	NCBI36
Celera	1	200,355,157 - 200,355,283	RGD
Cytogenetic Map	1	q42.13	UniSTS
HuRef	1	197,681,304 - 197,681,430	UniSTS
GeneMap99-GB4 RH Map	1	718.55	UniSTS

RH16026

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	227,171,477 - 227,171,864	UniSTS	GRCh37
Build 36	1	225,238,100 - 225,238,487	RGD	NCBI36
Celera	1	200,362,295 - 200,362,682	RGD
Cytogenetic Map	1	q42.13	UniSTS
HuRef	1	197,688,066 - 197,688,453	UniSTS
GeneMap99-GB4 RH Map	1	718.55	UniSTS
NCBI RH Map	1	2074.2	UniSTS

Bdy96e07

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	227,172,250 - 227,172,362	UniSTS	GRCh37
Build 36	1	225,238,873 - 225,238,985	RGD	NCBI36
Celera	1	200,363,068 - 200,363,180	RGD
Cytogenetic Map	1	q42.13	UniSTS
HuRef	1	197,688,839 - 197,688,951	UniSTS
TNG Radiation Hybrid Map	1	113666.0	UniSTS
GeneMap99-GB4 RH Map	1	718.55	UniSTS
NCBI RH Map	1	2074.2	UniSTS

RH41876

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	227,175,013 - 227,175,142	UniSTS	GRCh37
Build 36	1	225,241,636 - 225,241,765	RGD	NCBI36
Celera	1	200,365,831 - 200,365,960	RGD
Cytogenetic Map	1	q42.13	UniSTS
HuRef	1	197,691,602 - 197,691,731	UniSTS
GeneMap99-GB4 RH Map	1	718.45	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

pharyngeal arch

High

Medium

2399

2138

1624

598

1269

446

4238

2096

1970

279

1312

1378

162

1190

2717

Low

849

102

678

118

100

1764

140

148

235

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005273201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024448517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024448518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047425732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047425739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047425745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047425749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB073905	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF218003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI888739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ278126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL353689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL391628	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC129930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648860	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA925261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000366777 ⟹ ENSP00000355739

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,940,294 - 226,987,544 (+)	Ensembl

RefSeq Acc Id:

ENST00000366778 ⟹ ENSP00000355740

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,940,286 - 226,987,544 (+)	Ensembl

RefSeq Acc Id:

ENST00000366779 ⟹ ENSP00000355741

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,897,536 - 226,987,545 (+)	Ensembl

RefSeq Acc Id:

ENST00000476488

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,974,855 - 226,977,487 (+)	Ensembl

RefSeq Acc Id:

ENST00000478406

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,940,294 - 226,987,543 (+)	Ensembl

RefSeq Acc Id:

ENST00000479852

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,983,007 - 226,987,544 (+)	Ensembl

RefSeq Acc Id:

ENST00000485462

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,977,404 - 226,987,544 (+)	Ensembl

RefSeq Acc Id:

ENST00000485677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,899,405 - 226,903,799 (+)	Ensembl

RefSeq Acc Id:

ENST00000489044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	226,940,379 - 226,977,523 (+)	Ensembl

RefSeq Acc Id:

NM_020247 ⟹ NP_064632

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI
GRCh37	1	227,084,589 - 227,175,246 (+)	NCBI
Build 36	1	225,194,561 - 225,241,869 (+)	NCBI Archive
Celera	1	200,318,754 - 200,366,064 (+)	RGD
HuRef	1	197,644,481 - 197,691,835 (+)	ENTREZGENE
CHM1_1	1	228,400,721 - 228,447,734 (+)	NCBI
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

Sequence:

show sequence

AAACAGATCCGGAGCGCGTGGCGGGCGTCAGCGCGGTGGCCAGCGCGCAGAGGCGGGCGCGGAG
GCGGCTAGAAGGTGACCGCGGATCCCAGCTTCCTGCAGCCAGCCCTGAAGGATGGCTGCCATAT
TGGGAGACACCATCATGGTGGCTAAAGGCCTTGTCAAGCTGACCCAGGCGGCCGTGGAAACCCA
CCTGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCGGCCAGGGCCCTGCAGTCCACGGCT
GTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAGGGTCAGGATAAACATGAAGAATATTTTG
CTGAGAACTTCGGCGGCCCAGAAGGGGAGTTCCACTTCTCAGTCCCGCATGCAGCCGGAGCCTC
CACAGACTTCTCTTCAGCCTCCGCTCCCGACCAGTCAGCGCCCCCATCCCTGGGTCATGCCCAC
AGCGAGGGCCCAGCTCCTGCCTACGTGGCCAGTGGACCCTTTAGAGAAGCCGGGTTCCCCGGCC
AGGCCTCCTCCCCTCTGGGCAGGGCCAACGGGAGGCTCTTTGCAAACCCCAGAGACTCATTCTC
TGCCATGGGCTTTCAGCGAAGGTTCTTCCACCAGGACCAATCCCCTGTTGGGGGCCTCACAGCC
GAGGACATTGAGAAGGCCCGGCAGGCTAAGGCTCGCCCCGAGAACAAGCAGCACAAACAGACGC
TCAGCGAGCATGCCCGGGAGCGGAAGGTGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGG
AGGTCTGGCCGTGGGCCTGGGCTTCGGGGCACTGGCAGAGGTCGCCAAGAAGAGCCTGCGCTCC
GAGGACCCCTCAGGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGCAG
AGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAG
CATCCAGGATGATGCCTTTATCAACCCCCACCTGGCTAAGATCTTCGAGCGGGTGCGGCAGAGC
GCGGACTTCATGCCACTGAAGCAGATGATGAAAACTCTCAACAACGACCTGGGCCCCAACTGGC
GGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTT
GGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGTACCCTGGCGTGGCCCAGAGC
ATCAACAGTGATGTCAACAACCTCATGGCCGTGTTGAACATGAGCAACATGCTTCCAGAAGGCC
TGTTCCCCGAGCACCTGATCGACGTGCTGAGGCGGGAGCTGGCCCTGGAGTGTGACTACCAGCG
AGAGGCCGCCTGTGCCCGCAAGTTCAGGGACCTGCTGAAGGGCCACCCCTTCTTCTATGTGCCT
GAGATTGTGGATGAGCTCTGCAGCCCACATGTGCTGACCACAGAGCTGGTGTCTGGCTTCCCCC
TGGACCAGGCCGAAGGGCTCAGCCAGGAGATTCGGAACGAGATCTGCTACAACATCCTGGTTCT
GTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTC
TATGACCCCCAGCAGCACAAGGTGGCTCTTTTGGATTTTGGGGCAACGCGGGAATATGACAGAT
CCTTCACCGACCTCTACATTCAGATCATCAGGGCTGCTGCCGACAGGGACAGGGAGACTGTGCG
GGCGAAATCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGACGCCCAC
TTGGATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTTTGGCACTC
AGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTCATGCTGAGGCACCGTCTCGTCCCCCC
ACCCGAGGAAACCTACTCCCTGCACAGGAAGATGGGGGGCTCCTTCCTCATCTGCTCCAAGCTG
AAGGCCCGCTTCCCCTGCAAGGCCATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGGCAGG
CCCAGCAGTAGGGCTGCGGGCCACGCCCAGGCCGGCTCCGCGGGAACTCTCTCCCTCAGACAGG
CCAAAAACCAGTAGCGAGGTCGTGGTGATGCTCTTTTTAACTCCTTTGCCCAATAAGGGGGGTG
GCTGCCTGGAGCCCCGTAGCCAGCGCTTTCCACGGTTTCTGTTGCTAAATGGTTGTAGGGTGAG
AAGTGCAAGAATGAAGATGAAGCCCCACTGCTCGGTCAGTCTGCCTCCGTGTGTCCTCTGAAAT
AAGCAGATGAAGATGAAAGGGCAACTTTGTTTTCTTCTTTTTCCTGATGTGAATGTTAAGCAGA
AGGGAGAGAGTCCTTACTCCCTTCCAATCTCTGTTCAGTGCAAAACCCAGAAACATGAACAGAT
ACGATTGTGGGATTTTATCATCTGTGTAGTAGGTGTGTGTATGTGTTTCTAGAGTGAGATTTGT
GTTTTCTGCCCTTTTCCTCTCCAGCCGATGGGCTGGAGCTGGGAGAGGTGCTGAGCTAACAGTG
CCAACAAGTGCTCCTTAAGCCTGCGAGGCCCAGGCCTGTGGGGCTGGTTCTCACCTTTGACAGC
TGAATGTTCCTAAAGAACTGCTGCCCCACAGTGAGGGTGGGAGCAGCGGAACAGGGAATGCCAG
ACACAGGCTCGCTGCTGCTGGAAGGCGGGGTGGGACTTCCTTCCTCTGTCCGGAGAGGCACAGG
TGTCACCAGTTCCAGCCAAAGGCTCCTCACAGGCGCTGTGAATTTTTGTACAAGTCTTGTAATT
ATCGAATCAACAACTTGTTTCAATTTAATAAAAATGCTCATGGGAAGTGC

hide sequence

RefSeq Acc Id:

XM_005273201 ⟹ XP_005273258

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,943,315 - 226,987,544 (+)	NCBI
GRCh37	1	227,084,589 - 227,175,246 (+)	NCBI

Sequence:

show sequence

TGTTAAGCAACAGCCAGGAACTCGGGAGAGCCAGTGGAAAGGAGAGCTGGTGGGAGTGACCCTG
AAGGATGGCTGCCATATTGGGAGACACCATCATGGTGGCTAAAGGCCTTGTCAAGCTGACCCAG
GCGGCCGTGGAAACCCACCTGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCGGCCAGGG
CCCTGCAGTCCACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAGGGTCAGGATAA
ACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCAGAAGGGGAGTTCCACTTCTCAGTCCCG
CATGCAGCCGGAGCCTCCACAGACTTCTCTTCAGCCTCCGCTCCCGACCAGTCAGCGCCCCCAT
CCCTGGGTCATGCCCACAGCGAGGGCCCAGCTCCTGCCTACGTGGCCAGTGGACCCTTTAGAGA
AGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGCAGGGCCAACGGGAGGCTCTTTGCAAAC
CCCAGAGACTCATTCTCTGCCATGGGCTTTCAGCGAAGGTTCTTCCACCAGGACCAATCCCCTG
TTGGGGGCCTCACAGCCGAGGACATTGAGAAGGCCCGGCAGGCTAAGGCTCGCCCCGAGAACAA
GCAGCACAAACAGACGCTCAGCGAGCATGCCCGGGAGCGGAAGGTGCCTGTGACGAGGATTGGC
CGGCTGGCCAACTTCGGAGGTCTGGCCGTGGGCCTGGGCTTCGGGGCACTGGCAGAGGTCGCCA
AGAAGAGCCTGCGCTCCGAGGACCCCTCAGGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCT
GTCCGAGGCCAATGCAGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAG
CTGGGCCAGATGCTGAGCATCCAGGATGATGCCTTTATCAACCCCCACCTGGCTAAGATCTTCG
AGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAAGCAGATGATGAAAACTCTCAACAACGA
CCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCC
ATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGTACC
CTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAACCTCATGGCCGTGTTGAACATGAGCAA
CATGCTTCCAGAAGGCCTGTTCCCCGAGCACCTGATCGACGTGCTGAGGCGGGAGCTGGCCCTG
GAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGCAAGTTCAGGGACCTGCTGAAGGGCCACC
CCTTCTTCTATGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCACATGTGCTGACCACAGAGCT
GGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTCAGCCAGGAGATTCGGAACGAGATCTGC
TACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCA
ACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGGCTCTTTTGGATTTTGGGGCAAC
GCGGGAATATGACAGATCCTTCACCGACCTCTACATTCAGATCATCAGGGCTGCTGCCGACAGG
GACAGGGAGACTGTGCGGGCGAAATCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGG
TCATGGAAGACGCCCACTTGGATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCTGATGAGCC
TTTTGATTTTGGCACTCAGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTCATGCTGAGG
CACCGTCTCGTCCCCCCACCCGAGGAAACCTACTCCCTGCACAGGAAGATGGGGGGCTCCTTCC
TCATCTGCTCCAAGCTGAAGGCCCGCTTCCCCTGCAAGGCCATGTTCGAGGAGGCCTACAGCAA
CTACTGCAAGAGGCAGGCCCAGCAGTAGGGCTGCGGGCCACGCCCAGGCCGGCTCCGCGGGAAC
TCTCTCCCTCAGACAGGCCAAAAACCAGTAGCGAGGTCGTGGTGATGCTCTTTTTAACTCCTTT
GCCCAATAAGGGGGGTGGCTGCCTGGAGCCCCGTAGCCAGCGCTTTCCACGGTTTCTGTTGCTA
AATGGTTGTAGGGTGAGAAGTGCAAGAATGAAGATGAAGCCCCACTGCTCGGTCAGTCTGCCTC
CGTGTGTCCTCTGAAATAAGCAGATGAAGATGAAAGGGCAACTTTGTTTTCTTCTTTTTCCTGA
TGTGAATGTTAAGCAGAAGGGAGAGAGTCCTTACTCCCTTCCAATCTCTGTTCAGTGCAAAACC
CAGAAACATGAACAGATACGATTGTGGGATTTTATCATCTGTGTAGTAGGTGTGTGTATGTGTT
TCTAGAGTGAGATTTGTGTTTTCTGCCCTTTTCCTCTCCAGCCGATGGGCTGGAGCTGGGAGAG
GTGCTGAGCTAACAGTGCCAACAAGTGCTCCTTAAGCCTGCGAGGCCCAGGCCTGTGGGGCTGG
TTCTCACCTTTGACAGCTGAATGTTCCTAAAGAACTGCTGCCCCACAGTGAGGGTGGGAGCAGC
GGAACAGGGAATGCCAGACACAGGCTCGCTGCTGCTGGAAGGCGGGGTGGGACTTCCTTCCTCT
GTCCGGAGAGGCACAGGTGTCACCAGTTCCAGCCAAAGGCTCCTCACAGGCGCTGTGAATTTTT
GTACAAGTCTTGTAATTATCGAATCAACAACTTGTTTCAATTTAATAAAAATGCTCATGGGAAG
TGC

hide sequence

RefSeq Acc Id:

XM_011544238 ⟹ XP_011542540

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

Sequence:

show sequence

AGATCCGGAGCGCGTGGCGGGCGTCAGCGCGGTGGCCAGCGCGCAGAGGCGGGCGCGGAGGCGG
CTAGAAGGTGACCGCGGATCCCAGCTTCCTGCAGCCAGGTGAAGTGGTAAGGAATACCAGTGGA
CATTTGTGTCCCTGGTTTCGAAGCAGGCTGCCAGCACTTTGGACTGCCTCTCCTGAATGATGCC
TCATACCACAGCACTAAATAAACCACACTGGTCCTCCCCAGCCCAGCCTTCCTCCCAACTCAGC
CCTGAAGGATGGCTGCCATATTGGGAGACACCATCATGGTGGCTAAAGGCCTTGTCAAGCTGAC
CCAGGCGGCCGTGGAAACCCACCTGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCGGCC
AGGGCCCTGCAGTCCACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAGGGTCAGG
ATAAACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCAGAAGGGGAGTTCCACTTCTCAGT
CCCGCATGCAGCCGGAGCCTCCACAGACTTCTCTTCAGCCTCCGCTCCCGACCAGTCAGCGCCC
CCATCCCTGGGTCATGCCCACAGCGAGGGCCCAGCTCCTGCCTACGTGGCCAGTGGACCCTTTA
GAGAAGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGCAGGGCCAACGGGAGGCTCTTTGC
AAACCCCAGAGACTCATTCTCTGCCATGGGCTTTCAGCGAAGGTTCTTCCACCAGGACCAATCC
CCTGTTGGGGGCCTCACAGCCGAGGACATTGAGAAGGCCCGGCAGGCTAAGGCTCGCCCCGAGA
ACAAGCAGCACAAACAGACGCTCAGCGAGCATGCCCGGGAGCGGAAGGTGCCTGTGACGAGGAT
TGGCCGGCTGGCCAACTTCGGAGGTCTGGCCGTGGGCCTGGGCTTCGGGGCACTGGCAGAGGTC
GCCAAGAAGAGCCTGCGCTCCGAGGACCCCTCAGGGAAGAAGGCCGTGCTGGGTTCCAGTCCTT
TCCTGTCCGAGGCCAATGCAGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACT
CAAGCTGGGCCAGATGCTGAGCATCCAGGATGATGCCTTTATCAACCCCCACCTGGCTAAGATC
TTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAAGCAGATGATGAAAACTCTCAACA
ACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGC
ATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAG
TACCCTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAACCTCATGGCCGTGTTGAACATGA
GCAACATGCTTCCAGAAGGCCTGTTCCCCGAGCACCTGATCGACGTGCTGAGGCGGGAGCTGGC
CCTGGAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGCAAGTTCAGGGACCTGCTGAAGGGC
CACCCCTTCTTCTATGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCACATGTGCTGACCACAG
AGCTGGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTCAGCCAGGAGATTCGGAACGAGAT
CTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGAC
CCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGGCTCTTTTGGATTTTGGGG
CAACGCGGGAATATGACAGATCCTTCACCGACCTCTACATTCAGATCATCAGGGCTGCTGCCGA
CAGGGACAGGGAGACTGTGCGGGCGAAATCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTC
AAGGTCATGGAAGACGCCCACTTGGATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCTGATG
AGCCTTTTGATTTTGGCACTCAGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTCATGCT
GAGGCACCGTCTCGTCCCCCCACCCGAGGAAACCTACTCCCTGCACAGGAAGATGGGGGGCTCC
TTCCTCATCTGCTCCAAGCTGAAGGCCCGCTTCCCCTGCAAGGCCATGTTCGAGGAGGCCTACA
GCAACTACTGCAAGAGGCAGGCCCAGCAGTAGGGCTGCGGGCCACGCCCAGGCCGGCTCCGCGG
GAACTCTCTCCCTCAGACAGGCCAAAAACCAGTAGCGAGGTCGTGGTGATGCTCTTTTTAACTC
CTTTGCCCAATAAGGGGGGTGGCTGCCTGGAGCCCCGTAGCCAGCGCTTTCCACGGTTTCTGTT
GCTAAATGGTTGTAGGGTGAGAAGTGCAAGAATGAAGATGAAGCCCCACTGCTCGGTCAGTCTG
CCTCCGTGTGTCCTCTGAAATAAGCAGATGAAGATGAAAGGGCAACTTTGTTTTCTTCTTTTTC
CTGATGTGAATGTTAAGCAGAAGGGAGAGAGTCCTTACTCCCTTCCAATCTCTGTTCAGTGCAA
AACCCAGAAACATGAACAGATACGATTGTGGGATTTTATCATCTGTGTAGTAGGTGTGTGTATG
TGTTTCTAGAGTGAGATTTGTGTTTTCTGCCCTTTTCCTCTCCAGCCGATGGGCTGGAGCTGGG
AGAGGTGCTGAGCTAACAGTGCCAACAAGTGCTCCTTAAGCCTGCGAGGCCCAGGCCTGTGGGG
CTGGTTCTCACCTTTGACAGCTGAATGTTCCTAAAGAACTGCTGCCCCACAGTGAGGGTGGGAG
CAGCGGAACAGGGAATGCCAGACACAGGCTCGCTGCTGCTGGAAGGCGGGGTGGGACTTCCTTC
CTCTGTCCGGAGAGGCACAGGTGTCACCAGTTCCAGCCAAAGGCTCCTCACAGGCGCTGTGAAT
TTTTGTACAAGTCTTGTAATTATCGAATCAACAACTTGTTTCAATTTAATAAAAATGCTCATGG
GAAGTGC

hide sequence

RefSeq Acc Id:

XM_011544239 ⟹ XP_011542541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

Sequence:

show sequence

ATCCGGAGCGCGTGGCGGGCGTCAGCGCGGTGGCCAGCGCGCAGAGGCGGGCGCGGAGGCGGCT
AGAAGGTGACCGCGGATCCCAGCTTCCTGCAGCCAGCGCAGCTTCCCCGCGAGTTTCGCTGGCC
GCGAGCCTCAGGTCCGGACGCAGTGGGGGCGCCTCAGTTGCAGGACCCCCTTGCACTGTGTGTC
TGGGGCTCTAGGCTCGTTGCCGCTGGCTGCAGGTTTGGGTGAGAACTTTGACTTCCTTGGCTGG
AGCCAGCTGTTGGGCTTCGCAGCCCTGAAGGATGGCTGCCATATTGGGAGACACCATCATGGTG
GCTAAAGGCCTTGTCAAGCTGACCCAGGCGGCCGTGGAAACCCACCTGCAGCACTTGGGCATCG
GAGGGGAGCTGATCATGGCGGCCAGGGCCCTGCAGTCCACGGCTGTGGAGCAGATTGGCATGTT
CTTGGGGAAGGTGCAGGGTCAGGATAAACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCA
GAAGGGGAGTTCCACTTCTCAGTCCCGCATGCAGCCGGAGCCTCCACAGACTTCTCTTCAGCCT
CCGCTCCCGACCAGTCAGCGCCCCCATCCCTGGGTCATGCCCACAGCGAGGGCCCAGCTCCTGC
CTACGTGGCCAGTGGACCCTTTAGAGAAGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGC
AGGGCCAACGGGAGGCTCTTTGCAAACCCCAGAGACTCATTCTCTGCCATGGGCTTTCAGCGAA
GGTTCTTCCACCAGGACCAATCCCCTGTTGGGGGCCTCACAGCCGAGGACATTGAGAAGGCCCG
GCAGGCTAAGGCTCGCCCCGAGAACAAGCAGCACAAACAGACGCTCAGCGAGCATGCCCGGGAG
CGGAAGGTGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGTCTGGCCGTGGGCCTGG
GCTTCGGGGCACTGGCAGAGGTCGCCAAGAAGAGCCTGCGCTCCGAGGACCCCTCAGGGAAGAA
GGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGCAGAGCGGATCGTGCGCACGCTC
TGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAGCATCCAGGATGATGCCTTTA
TCAACCCCCACCTGGCTAAGATCTTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAA
GCAGATGATGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTC
GAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCC
GCGAGGTGGCCATGAAGATCCAGTACCCTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAA
CCTCATGGCCGTGTTGAACATGAGCAACATGCTTCCAGAAGGCCTGTTCCCCGAGCACCTGATC
GACGTGCTGAGGCGGGAGCTGGCCCTGGAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGCA
AGTTCAGGGACCTGCTGAAGGGCCACCCCTTCTTCTATGTGCCTGAGATTGTGGATGAGCTCTG
CAGCCCACATGTGCTGACCACAGAGCTGGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTC
AGCCAGGAGATTCGGAACGAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCG
AGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAA
GGTGGCTCTTTTGGATTTTGGGGCAACGCGGGAATATGACAGATCCTTCACCGACCTCTACATT
CAGATCATCAGGGCTGCTGCCGACAGGGACAGGGAGACTGTGCGGGCGAAATCCATAGAGATGA
AGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGACGCCCACTTGGATGCCATCCTCATCCT
GGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTTTGGCACTCAGAGCACCACCGAGAAGATC
CACAACCTGATTCCCGTCATGCTGAGGCACCGTCTCGTCCCCCCACCCGAGGAAACCTACTCCC
TGCACAGGAAGATGGGGGGCTCCTTCCTCATCTGCTCCAAGCTGAAGGCCCGCTTCCCCTGCAA
GGCCATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGGCAGGCCCAGCAGTAGGGCTGCGGG
CCACGCCCAGGCCGGCTCCGCGGGAACTCTCTCCCTCAGACAGGCCAAAAACCAGTAGCGAGGT
CGTGGTGATGCTCTTTTTAACTCCTTTGCCCAATAAGGGGGGTGGCTGCCTGGAGCCCCGTAGC
CAGCGCTTTCCACGGTTTCTGTTGCTAAATGGTTGTAGGGTGAGAAGTGCAAGAATGAAGATGA
AGCCCCACTGCTCGGTCAGTCTGCCTCCGTGTGTCCTCTGAAATAAGCAGATGAAGATGAAAGG
GCAACTTTGTTTTCTTCTTTTTCCTGATGTGAATGTTAAGCAGAAGGGAGAGAGTCCTTACTCC
CTTCCAATCTCTGTTCAGTGCAAAACCCAGAAACATGAACAGATACGATTGTGGGATTTTATCA
TCTGTGTAGTAGGTGTGTGTATGTGTTTCTAGAGTGAGATTTGTGTTTTCTGCCCTTTTCCTCT
CCAGCCGATGGGCTGGAGCTGGGAGAGGTGCTGAGCTAACAGTGCCAACAAGTGCTCCTTAAGC
CTGCGAGGCCCAGGCCTGTGGGGCTGGTTCTCACCTTTGACAGCTGAATGTTCCTAAAGAACTG
CTGCCCCACAGTGAGGGTGGGAGCAGCGGAACAGGGAATGCCAGACACAGGCTCGCTGCTGCTG
GAAGGCGGGGTGGGACTTCCTTCCTCTGTCCGGAGAGGCACAGGTGTCACCAGTTCCAGCCAAA
GGCTCCTCACAGGCGCTGTGAATTTTTGTACAAGTCTTGTAATTATCGAATCAACAACTTGTTT
CAATTTAATAAAAATGCTCATGGGAAGTGC

hide sequence

RefSeq Acc Id:

XM_024448517 ⟹ XP_024304285

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

Sequence:

show sequence

AACAGATCCGGAGCGCGTGGCGGGCGTCAGCGCGGTGGCCAGCGCGCAGAGGCGGGCGCGGAGG
CGGCTAGAAGGTGACCGCGGATCCCAGCTTCCTGCAGCCAGCCCTTCTTGCATTCTCTTCATGT
GACAGCGCAGCTTCCCCGCGAGTTTCGCTGGCCGCGAGCCTCAGGTCCGGACGCAGTGGGGGCG
CCTCAGTTGCAGGCCCTGAAGGATGGCTGCCATATTGGGAGACACCATCATGGTGGCTAAAGGC
CTTGTCAAGCTGACCCAGGCGGCCGTGGAAACCCACCTGCAGCACTTGGGCATCGGAGGGGAGC
TGATCATGGCGGCCAGGGCCCTGCAGTCCACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAA
GGTGCAGGGTCAGGATAAACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCAGAAGGGGAG
TTCCACTTCTCAGTCCCGCATGCAGCCGGAGCCTCCACAGACTTCTCTTCAGCCTCCGCTCCCG
ACCAGTCAGCGCCCCCATCCCTGGGTCATGCCCACAGCGAGGGCCCAGCTCCTGCCTACGTGGC
CAGTGGACCCTTTAGAGAAGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGCAGGGCCAAC
GGGAGGCTCTTTGCAAACCCCAGAGACTCATTCTCTGCCATGGGCTTTCAGCGAAGGTTCTTCC
ACCAGGACCAATCCCCTGTTGGGGGCCTCACAGCCGAGGACATTGAGAAGGCCCGGCAGGCTAA
GGCTCGCCCCGAGAACAAGCAGCACAAACAGACGCTCAGCGAGCATGCCCGGGAGCGGAAGGTG
CCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGTCTGGCCGTGGGCCTGGGCTTCGGGG
CACTGGCAGAGGTCGCCAAGAAGAGCCTGCGCTCCGAGGACCCCTCAGGGAAGAAGGCCGTGCT
GGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGCAGAGCGGATCGTGCGCACGCTCTGCAAGGTG
CGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAGCATCCAGGATGATGCCTTTATCAACCCCC
ACCTGGCTAAGATCTTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAAGCAGATGAT
GAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGG
CCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGG
CCATGAAGATCCAGTACCCTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAACCTCATGGC
CGTGTTGAACATGAGCAACATGCTTCCAGAAGGCCTGTTCCCCGAGCACCTGATCGACGTGCTG
AGGCGGGAGCTGGCCCTGGAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGCAAGTTCAGGG
ACCTGCTGAAGGGCCACCCCTTCTTCTATGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCACA
TGTGCTGACCACAGAGCTGGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTCAGCCAGGAG
ATTCGGAACGAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACT
TCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGGCTCT
TTTGGATTTTGGGGCAACGCGGGAATATGACAGATCCTTCACCGACCTCTACATTCAGATCATC
AGGGCTGCTGCCGACAGGGACAGGGAGACTGTGCGGGCGAAATCCATAGAGATGAAGTTCCTCA
CCGGCTACGAGGTCAAGGTCATGGAAGACGCCCACTTGGATGCCATCCTCATCCTGGGGGAGGC
CTTCGCCTCTGATGAGCCTTTTGATTTTGGCACTCAGAGCACCACCGAGAAGATCCACAACCTG
ATTCCCGTCATGCTGAGGCACCGTCTCGTCCCCCCACCCGAGGAAACCTACTCCCTGCACAGGA
AGATGGGGGGCTCCTTCCTCATCTGCTCCAAGCTGAAGGCCCGCTTCCCCTGCAAGGCCATGTT
CGAGGAGGCCTACAGCAACTACTGCAAGAGGCAGGCCCAGCAGTAGGGCTGCGGGCCACGCCCA
GGCCGGCTCCGCGGGAACTCTCTCCCTCAGACAGGCCAAAAACCAGTAGCGAGGTCGTGGTGAT
GCTCTTTTTAACTCCTTTGCCCAATAAGGGGGGTGGCTGCCTGGAGCCCCGTAGCCAGCGCTTT
CCACGGTTTCTGTTGCTAAATGGTTGTAGGGTGAGAAGTGCAAGAATGAAGATGAAGCCCCACT
GCTCGGTCAGTCTGCCTCCGTGTGTCCTCTGAAATAAGCAGATGAAGATGAAAGGGCAACTTTG
TTTTCTTCTTTTTCCTGATGTGAATGTTAAGCAGAAGGGAGAGAGTCCTTACTCCCTTCCAATC
TCTGTTCAGTGCAAAACCCAGAAACATGAACAGATACGATTGTGGGATTTTATCATCTGTGTAG
TAGGTGTGTGTATGTGTTTCTAGAGTGAGATTTGTGTTTTCTGCCCTTTTCCTCTCCAGCCGAT
GGGCTGGAGCTGGGAGAGGTGCTGAGCTAACAGTGCCAACAAGTGCTCCTTAAGCCTGCGAGGC
CCAGGCCTGTGGGGCTGGTTCTCACCTTTGACAGCTGAATGTTCCTAAAGAACTGCTGCCCCAC
AGTGAGGGTGGGAGCAGCGGAACAGGGAATGCCAGACACAGGCTCGCTGCTGCTGGAAGGCGGG
GTGGGACTTCCTTCCTCTGTCCGGAGAGGCACAGGTGTCACCAGTTCCAGCCAAAGGCTCCTCA
CAGGCGCTGTGAATTTTTGTACAAGTCTTGTAATTATCGAATCAACAACTTGTTTCAATTTAAT
AAAAATGCTCATGGGAAGTGC

hide sequence

RefSeq Acc Id:

XM_024448518 ⟹ XP_024304286

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

Sequence:

show sequence

AACAGATCCGGAGCGCGTGGCGGGCGTCAGCGCGGTGGCCAGCGCGCAGAGGCGGGCGCGGAGG
CGGCTAGAAGGTGACCGCGGATCCCAGCTTCCTGCAGCCAGCGCAGCTTCCCCGCGAGTTTCGC
TGGCCGCGAGCCTCAGGTCCGGACGCAGTGGGGGCGCCTCAGTTGCAGGCCCTGAAGGATGGCT
GCCATATTGGGAGACACCATCATGGTGGCTAAAGGCCTTGTCAAGCTGACCCAGGCGGCCGTGG
AAACCCACCTGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCGGCCAGGGCCCTGCAGTC
CACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAGGGTCAGGATAAACATGAAGAA
TATTTTGCTGAGAACTTCGGCGGCCCAGAAGGGGAGTTCCACTTCTCAGTCCCGCATGCAGCCG
GAGCCTCCACAGACTTCTCTTCAGCCTCCGCTCCCGACCAGTCAGCGCCCCCATCCCTGGGTCA
TGCCCACAGCGAGGGCCCAGCTCCTGCCTACGTGGCCAGTGGACCCTTTAGAGAAGCCGGGTTC
CCCGGCCAGGCCTCCTCCCCTCTGGGCAGGGCCAACGGGAGGCTCTTTGCAAACCCCAGAGACT
CATTCTCTGCCATGGGCTTTCAGCGAAGGTTCTTCCACCAGGACCAATCCCCTGTTGGGGGCCT
CACAGCCGAGGACATTGAGAAGGCCCGGCAGGCTAAGGCTCGCCCCGAGAACAAGCAGCACAAA
CAGACGCTCAGCGAGCATGCCCGGGAGCGGAAGGTGCCTGTGACGAGGATTGGCCGGCTGGCCA
ACTTCGGAGGTCTGGCCGTGGGCCTGGGCTTCGGGGCACTGGCAGAGGTCGCCAAGAAGAGCCT
GCGCTCCGAGGACCCCTCAGGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCC
AATGCAGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGA
TGCTGAGCATCCAGGATGATGCCTTTATCAACCCCCACCTGGCTAAGATCTTCGAGCGGGTGCG
GCAGAGCGCGGACTTCATGCCACTGAAGCAGATGATGAAAACTCTCAACAACGACCTGGGCCCC
AACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGG
TGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGTACCCTGGCGTGGC
CCAGAGCATCAACAGTGATGTCAACAACCTCATGGCCGTGTTGAACATGAGCAACATGCTTCCA
GAAGGCCTGTTCCCCGAGCACCTGATCGACGTGCTGAGGCGGGAGCTGGCCCTGGAGTGTGACT
ACCAGCGAGAGGCCGCCTGTGCCCGCAAGTTCAGGGACCTGCTGAAGGGCCACCCCTTCTTCTA
TGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCACATGTGCTGACCACAGAGCTGGTGTCTGGC
TTCCCCCTGGACCAGGCCGAAGGGCTCAGCCAGGAGATTCGGAACGAGATCTGCTACAACATCC
TGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAA
CTTCTTCTATGACCCCCAGCAGCACAAGGTGGCTCTTTTGGATTTTGGGGCAACGCGGGAATAT
GACAGATCCTTCACCGACCTCTACATTCAGATCATCAGGGCTGCTGCCGACAGGGACAGGGAGA
CTGTGCGGGCGAAATCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGA
CGCCCACTTGGATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTTT
GGCACTCAGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTCATGCTGAGGCACCGTCTCG
TCCCCCCACCCGAGGAAACCTACTCCCTGCACAGGAAGATGGGGGGCTCCTTCCTCATCTGCTC
CAAGCTGAAGGCCCGCTTCCCCTGCAAGGCCATGTTCGAGGAGGCCTACAGCAACTACTGCAAG
AGGCAGGCCCAGCAGTAGGGCTGCGGGCCACGCCCAGGCCGGCTCCGCGGGAACTCTCTCCCTC
AGACAGGCCAAAAACCAGTAGCGAGGTCGTGGTGATGCTCTTTTTAACTCCTTTGCCCAATAAG
GGGGGTGGCTGCCTGGAGCCCCGTAGCCAGCGCTTTCCACGGTTTCTGTTGCTAAATGGTTGTA
GGGTGAGAAGTGCAAGAATGAAGATGAAGCCCCACTGCTCGGTCAGTCTGCCTCCGTGTGTCCT
CTGAAATAAGCAGATGAAGATGAAAGGGCAACTTTGTTTTCTTCTTTTTCCTGATGTGAATGTT
AAGCAGAAGGGAGAGAGTCCTTACTCCCTTCCAATCTCTGTTCAGTGCAAAACCCAGAAACATG
AACAGATACGATTGTGGGATTTTATCATCTGTGTAGTAGGTGTGTGTATGTGTTTCTAGAGTGA
GATTTGTGTTTTCTGCCCTTTTCCTCTCCAGCCGATGGGCTGGAGCTGGGAGAGGTGCTGAGCT
AACAGTGCCAACAAGTGCTCCTTAAGCCTGCGAGGCCCAGGCCTGTGGGGCTGGTTCTCACCTT
TGACAGCTGAATGTTCCTAAAGAACTGCTGCCCCACAGTGAGGGTGGGAGCAGCGGAACAGGGA
ATGCCAGACACAGGCTCGCTGCTGCTGGAAGGCGGGGTGGGACTTCCTTCCTCTGTCCGGAGAG
GCACAGGTGTCACCAGTTCCAGCCAAAGGCTCCTCACAGGCGCTGTGAATTTTTGTACAAGTCT
TGTAATTATCGAATCAACAACTTGTTTCAATTTAATAAAAATGCTCATGGGAAGTGC

hide sequence

RefSeq Acc Id:

XM_047425732 ⟹ XP_047281688

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

RefSeq Acc Id:

XM_047425739 ⟹ XP_047281695

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

RefSeq Acc Id:

XM_047425745 ⟹ XP_047281701

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

RefSeq Acc Id:

XM_047425749 ⟹ XP_047281705

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	226,940,294 - 226,987,544 (+)	NCBI

RefSeq Acc Id:

XM_054337768 ⟹ XP_054193743

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337769 ⟹ XP_054193744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337770 ⟹ XP_054193745

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337771 ⟹ XP_054193746

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337772 ⟹ XP_054193747

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337773 ⟹ XP_054193748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,131,220 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337774 ⟹ XP_054193749

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337775 ⟹ XP_054193750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

RefSeq Acc Id:

XM_054337776 ⟹ XP_054193751

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	226,128,212 - 226,175,909 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_064632	(Get FASTA)	NCBI Sequence Viewer
	XP_005273258	(Get FASTA)	NCBI Sequence Viewer
	XP_011542540	(Get FASTA)	NCBI Sequence Viewer
	XP_011542541	(Get FASTA)	NCBI Sequence Viewer
	XP_024304285	(Get FASTA)	NCBI Sequence Viewer
	XP_024304286	(Get FASTA)	NCBI Sequence Viewer
	XP_047281688	(Get FASTA)	NCBI Sequence Viewer
	XP_047281695	(Get FASTA)	NCBI Sequence Viewer
	XP_047281701	(Get FASTA)	NCBI Sequence Viewer
	XP_047281705	(Get FASTA)	NCBI Sequence Viewer
	XP_054193743	(Get FASTA)	NCBI Sequence Viewer
	XP_054193744	(Get FASTA)	NCBI Sequence Viewer
	XP_054193745	(Get FASTA)	NCBI Sequence Viewer
	XP_054193746	(Get FASTA)	NCBI Sequence Viewer
	XP_054193747	(Get FASTA)	NCBI Sequence Viewer
	XP_054193748	(Get FASTA)	NCBI Sequence Viewer
	XP_054193749	(Get FASTA)	NCBI Sequence Viewer
	XP_054193750	(Get FASTA)	NCBI Sequence Viewer
	XP_054193751	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG17245	(Get FASTA)	NCBI Sequence Viewer
	AAH05171	(Get FASTA)	NCBI Sequence Viewer
	AAI29931	(Get FASTA)	NCBI Sequence Viewer
	BAB91363	(Get FASTA)	NCBI Sequence Viewer
	BAC11143	(Get FASTA)	NCBI Sequence Viewer
	BAG52171	(Get FASTA)	NCBI Sequence Viewer
	BAG57042	(Get FASTA)	NCBI Sequence Viewer
	BAG60085	(Get FASTA)	NCBI Sequence Viewer
	BAG62245	(Get FASTA)	NCBI Sequence Viewer
	BAG62629	(Get FASTA)	NCBI Sequence Viewer
	CAC00482	(Get FASTA)	NCBI Sequence Viewer
	CAH56132	(Get FASTA)	NCBI Sequence Viewer
	EAW69801	(Get FASTA)	NCBI Sequence Viewer
	EAW69802	(Get FASTA)	NCBI Sequence Viewer
	EAW69803	(Get FASTA)	NCBI Sequence Viewer
	EAW69804	(Get FASTA)	NCBI Sequence Viewer
	EAW69805	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000355739
	ENSP00000355739.3
	ENSP00000355740.1
GenBank Protein	Q8NI60	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_064632 ⟸ NM_020247

- UniProtKB:

Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKH
EEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREA
GFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQ
HKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLS
EANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDL
GPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNM
LPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELV
SGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATR
EYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPF
DFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNY
CKRQAQQ

hide sequence

RefSeq Acc Id:	XP_005273258 ⟸ XM_005273201
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKH EEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREA GFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQ HKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLS EANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDL GPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNM LPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELV SGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATR EYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPF DFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNY CKRQAQQ hide sequence

RefSeq Acc Id:	XP_011542540 ⟸ XM_011544238
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKH EEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREA GFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQ HKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLS EANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDL GPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNM LPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELV SGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATR EYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPF DFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNY CKRQAQQ hide sequence

RefSeq Acc Id:	XP_011542541 ⟸ XM_011544239
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKH EEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREA GFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQ HKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLS EANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDL GPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNM LPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELV SGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATR EYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPF DFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNY CKRQAQQ hide sequence

RefSeq Acc Id:	XP_024304285 ⟸ XM_024448517
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKH EEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREA GFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQ HKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLS EANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDL GPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNM LPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELV SGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATR EYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPF DFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNY CKRQAQQ hide sequence

RefSeq Acc Id:	XP_024304286 ⟸ XM_024448518
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKH EEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREA GFPGQASSPLGRANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQ HKQTLSEHARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLS EANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDL GPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNM LPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELV SGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATR EYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPF DFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNY CKRQAQQ hide sequence

RefSeq Acc Id:

ENSP00000355741 ⟸ ENST00000366779

RefSeq Acc Id:

ENSP00000355739 ⟸ ENST00000366777

RefSeq Acc Id:

ENSP00000355740 ⟸ ENST00000366778

RefSeq Acc Id:	XP_047281701 ⟸ XM_047425745
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047281688 ⟸ XM_047425732
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047281695 ⟸ XM_047425739
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047281705 ⟸ XM_047425749
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193749 ⟸ XM_054337774
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193744 ⟸ XM_054337769
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193750 ⟸ XM_054337775
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193745 ⟸ XM_054337770
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193743 ⟸ XM_054337768
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193746 ⟸ XM_054337771
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193751 ⟸ XM_054337776
- Peptide Label:	isoform X1
- UniProtKB:	Q5T7A5 (UniProtKB/Swiss-Prot), Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193747 ⟸ XM_054337772
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193748 ⟸ XM_054337773
- Peptide Label:	isoform X1
- UniProtKB:	Q9HBQ1 (UniProtKB/Swiss-Prot), Q8NI60 (UniProtKB/Swiss-Prot), Q8NCJ6 (UniProtKB/Swiss-Prot), Q63HK0 (UniProtKB/Swiss-Prot), Q5T7A5 (UniProtKB/Swiss-Prot), Q9NQ67 (UniProtKB/Swiss-Prot), B4DVB7 (UniProtKB/TrEMBL)

Protein Domains

ABC1 atypical kinase-like Protein kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NI60-F1-model_v2	AlphaFold	Q8NI60	1-647	view protein structure

Promoters

RGD ID:

6784842

Promoter ID:

HG_KWN:7636

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000366775, ENST00000366776, NM_020247, OTTHUMT00000091714, OTTHUMT00000091717, UC009XEQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	225,193,881 - 225,194,757 (+)	MPROMDB

RGD ID:

6784843

Promoter ID:

HG_KWN:7641

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000091719, OTTHUMT00000091720

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	225,237,601 - 225,238,152 (+)	MPROMDB

RGD ID:

6859190

Promoter ID:

EPDNEW_H2741

Type:

initiation region

Name:

ADCK3_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	1	226,940,298 - 226,940,358	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16812	AgrOrtholog
COSMIC	COQ8A	COSMIC
Ensembl Genes	ENSG00000163050	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000366777	ENTREZGENE
	ENST00000366777.4	UniProtKB/Swiss-Prot
	ENST00000366778.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000163050	GTEx
HGNC ID	HGNC:16812	ENTREZGENE
Human Proteome Map	COQ8A	Human Proteome Map
InterPro	ABC1_dom	UniProtKB/TrEMBL
	ADCK3_dom	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
	Kinase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UbiB_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:56997	UniProtKB/Swiss-Prot
NCBI Gene	56997	ENTREZGENE
OMIM	606980	OMIM
PANTHER	ATYPICAL KINASE COQ8A, MITOCHONDRIAL	UniProtKB/TrEMBL
	PTHR43851	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR43851:SF1	UniProtKB/Swiss-Prot
Pfam	ABC1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25999	PharmGKB
Superfamily-SCOP	Protein kinase-like (PK-like)	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	B4DVB7	ENTREZGENE, UniProtKB/TrEMBL
	COQ8A_HUMAN	UniProtKB/Swiss-Prot
	Q5T7A5	ENTREZGENE
	Q63HK0	ENTREZGENE
	Q8NCJ6	ENTREZGENE
	Q8NI60	ENTREZGENE
	Q9HBQ1	ENTREZGENE
	Q9NQ67	ENTREZGENE
UniProt Secondary	Q5T7A5	UniProtKB/Swiss-Prot
	Q63HK0	UniProtKB/Swiss-Prot
	Q8NCJ6	UniProtKB/Swiss-Prot
	Q9HBQ1	UniProtKB/Swiss-Prot
	Q9NQ67	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-07-19	COQ8A	coenzyme Q8A	ADCK3	aarF domain containing kinase 3	Symbol and/or name change	5135510	APPROVED
2011-07-27	ADCK3	aarF domain containing kinase 3	CABC1	chaperone, ABC1 activity of bc1 complex homolog (S. pombe)	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)

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - OMIM

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