CCDC88A (coiled-coil domain containing 88A) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CCDC88A (coiled-coil domain containing 88A) Homo sapiens
Analyze
Symbol: CCDC88A
Name: coiled-coil domain containing 88A
RGD ID: 1347801
HGNC Page HGNC:25523
Description: Enables several functions, including GTPase regulator activity; growth factor receptor binding activity; and protein kinase binding activity. Involved in several processes, including lamellipodium assembly; maintenance of protein location in plasma membrane; and positive regulation of organelle organization. Located in several cellular components, including Golgi apparatus; lamellipodium; and microtubule organizing center.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: akt phosphorylation enhancer; AKT-phosphorylation enhancer; APE; coiled-coil domain-containing protein 88A; DKFZp686D0630; g alpha-interacting vesicle-associated protein; Galpha-interacting vesicle-associated protein; girders of actin filament; girders of actin filaments; girdin; GIV; GRDN; G{alpha}-interacting vesicle-associated protein; HkRP1; Hook-related protein 1; KIAA1212; PEHO; PEHOL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,287,842 - 55,419,856 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl255,287,842 - 55,419,895 (-)EnsemblGRCh38hg38GRCh38
GRCh37255,514,978 - 55,646,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,368,482 - 55,500,467 (-)NCBINCBI36Build 36hg18NCBI36
Build 34255,426,630 - 55,558,614NCBI
Celera255,355,473 - 55,487,467 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,250,032 - 55,382,309 (-)NCBIHuRef
CHM1_1255,444,983 - 55,577,340 (-)NCBICHM1_1
T2T-CHM13v2.0255,285,045 - 55,417,059 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
microcephaly  (IAGP)
PEHO syndrome  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574462   PMID:12477932   PMID:14676191   PMID:14702039   PMID:15749703   PMID:15753085   PMID:15882442   PMID:16139227   PMID:16344560   PMID:16751776   PMID:17043677   PMID:18264090  
PMID:18316593   PMID:18663145   PMID:19211784   PMID:20132219   PMID:20157114   PMID:20379614   PMID:20462955   PMID:20515748   PMID:20936779   PMID:20974669   PMID:21209316   PMID:21799016  
PMID:21873635   PMID:21954290   PMID:21998595   PMID:22020337   PMID:22116776   PMID:22308453   PMID:22574214   PMID:22714912   PMID:22755556   PMID:22780975   PMID:22990118   PMID:23051738  
PMID:23066027   PMID:23184937   PMID:23195430   PMID:23349634   PMID:23443559   PMID:23509302   PMID:23588413   PMID:23886629   PMID:24155038   PMID:24166409   PMID:24326843   PMID:24662825  
PMID:25009397   PMID:25043713   PMID:25060559   PMID:25061227   PMID:25187647   PMID:25192599   PMID:25591657   PMID:25605737   PMID:25707853   PMID:25755745   PMID:25798074   PMID:25869066  
PMID:25921289   PMID:25926659   PMID:25977476   PMID:26126266   PMID:26151295   PMID:26163263   PMID:26186194   PMID:26378251   PMID:26391662   PMID:26496610   PMID:26514725   PMID:26673895  
PMID:26743900   PMID:26879989   PMID:26887938   PMID:26912792   PMID:26917597   PMID:26972000   PMID:27029492   PMID:27129302   PMID:27173435   PMID:27440794   PMID:27621449   PMID:27623382  
PMID:27623945   PMID:27813479   PMID:27864364   PMID:27880917   PMID:27919290   PMID:28375676   PMID:28390157   PMID:28514442   PMID:28713924   PMID:28718761   PMID:28810896   PMID:28818465  
PMID:29117863   PMID:29259035   PMID:29395067   PMID:29507755   PMID:29635000   PMID:29778605   PMID:29786109   PMID:29901184   PMID:29989653   PMID:30145643   PMID:30194290   PMID:30194792  
PMID:30536309   PMID:30935690   PMID:31017840   PMID:31059266   PMID:31363053   PMID:31413325   PMID:31615875   PMID:31736058   PMID:31871319   PMID:32062451   PMID:32369440   PMID:32467989  
PMID:32513696   PMID:32583631   PMID:33397691   PMID:33404163   PMID:33660763   PMID:33675748   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34190023   PMID:34467244   PMID:34702444  
PMID:34728620   PMID:35271311   PMID:35391932   PMID:35493459   PMID:35844135   PMID:35952993  


Genomics

Comparative Map Data
CCDC88A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,287,842 - 55,419,856 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl255,287,842 - 55,419,895 (-)EnsemblGRCh38hg38GRCh38
GRCh37255,514,978 - 55,646,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,368,482 - 55,500,467 (-)NCBINCBI36Build 36hg18NCBI36
Build 34255,426,630 - 55,558,614NCBI
Celera255,355,473 - 55,487,467 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,250,032 - 55,382,309 (-)NCBIHuRef
CHM1_1255,444,983 - 55,577,340 (-)NCBICHM1_1
T2T-CHM13v2.0255,285,045 - 55,417,059 (-)NCBIT2T-CHM13v2.0
Ccdc88a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391129,323,521 - 29,460,808 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1129,323,658 - 29,460,808 (+)EnsemblGRCm39 Ensembl
GRCm381129,373,405 - 29,510,808 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1129,373,658 - 29,510,808 (+)EnsemblGRCm38mm10GRCm38
MGSCv371129,273,775 - 29,410,812 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361129,273,775 - 29,410,812 (+)NCBIMGSCv36mm8
Celera1131,739,265 - 31,872,126 (+)NCBICelera
Cytogenetic Map11A3.3NCBI
Ccdc88a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.214103,104,091 - 103,256,112 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14103,103,513 - 103,252,368 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.014113,771,093 - 113,936,376 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14113,867,209 - 113,932,263 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014113,437,642 - 113,602,573 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414110,376,486 - 110,525,468 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.114110,402,673 - 110,553,099 (+)NCBI
Celera14101,981,223 - 102,133,399 (+)NCBICelera
Cytogenetic Map14q22NCBI
Ccdc88a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542427,617,833 - 27,771,385 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542427,617,833 - 27,771,385 (+)NCBIChiLan1.0ChiLan1.0
CCDC88A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A56,585,354 - 56,716,197 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A56,589,221 - 56,715,362 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A55,445,060 - 55,576,479 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CCDC88A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11056,167,907 - 56,300,974 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1056,170,479 - 56,300,908 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1056,119,423 - 56,257,932 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01057,166,787 - 57,305,336 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1057,173,896 - 57,305,357 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11056,867,913 - 57,007,335 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01057,147,148 - 57,286,241 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01057,437,657 - 57,577,292 (-)NCBIUU_Cfam_GSD_1.0
Ccdc88a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629226,767,303 - 26,901,093 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364911,670,192 - 1,804,056 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC88A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl385,811,127 - 85,941,864 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1385,811,043 - 85,971,162 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2390,618,672 - 90,725,605 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC88A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11451,484,886 - 51,615,066 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1451,484,906 - 51,610,654 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604560,105,043 - 60,235,398 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc88a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248336,116,686 - 6,260,211 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248336,117,260 - 6,260,211 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC88A
475 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6956
Count of miRNA genes:1134
Interacting mature miRNAs:1401
Transcripts:ENST00000263630, ENST00000336838, ENST00000412148, ENST00000413716, ENST00000422883, ENST00000426576, ENST00000430086, ENST00000436346, ENST00000444458, ENST00000456975, ENST00000468534, ENST00000471947, ENST00000474059, ENST00000476903
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
G20678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,515,018 - 55,515,199UniSTSGRCh37
Build 36255,368,522 - 55,368,703RGDNCBI36
Celera255,355,513 - 55,355,694RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,250,072 - 55,250,253UniSTS
A006B27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,515,018 - 55,515,199UniSTSGRCh37
Build 36255,368,522 - 55,368,703RGDNCBI36
Celera255,355,513 - 55,355,694RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,250,072 - 55,250,253UniSTS
GeneMap99-GB4 RH Map2162.78UniSTS
NCBI RH Map2335.7UniSTS
RH12571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,515,329 - 55,515,453UniSTSGRCh37
Build 36255,368,833 - 55,368,957RGDNCBI36
Celera255,355,824 - 55,355,948RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,250,383 - 55,250,507UniSTS
GeneMap99-GB4 RH Map2162.78UniSTS
D2S1285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,517,519 - 55,517,821UniSTSGRCh37
Build 36255,371,023 - 55,371,325RGDNCBI36
Celera255,358,008 - 55,358,310RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,252,567 - 55,252,869UniSTS
TNG Radiation Hybrid Map238348.0UniSTS
Stanford-G3 RH Map22270.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2335.7UniSTS
WI-22280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,515,022 - 55,515,289UniSTSGRCh37
Build 36255,368,526 - 55,368,793RGDNCBI36
Celera255,355,517 - 55,355,784RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,250,076 - 55,250,343UniSTS
GeneMap99-GB4 RH Map2172.08UniSTS
Whitehead-RH Map2231.4UniSTS
RH79821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,598,791 - 183,599,212UniSTSGRCh37
GRCh37255,553,340 - 55,553,456UniSTSGRCh37
Build 36255,406,844 - 55,406,960RGDNCBI36
Celera3182,042,115 - 182,042,535UniSTS
Celera255,393,805 - 55,393,921RGD
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p16.1UniSTS
HuRef3181,008,455 - 181,008,876UniSTS
HuRef255,288,416 - 55,288,532UniSTS
RH93856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,521,639 - 55,521,796UniSTSGRCh37
Build 36255,375,143 - 55,375,300RGDNCBI36
Celera255,362,125 - 55,362,282RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,256,684 - 55,256,841UniSTS
GeneMap99-GB4 RH Map2174.26UniSTS
RH92651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,517,392 - 55,517,475UniSTSGRCh37
Build 36255,370,896 - 55,370,979RGDNCBI36
Celera255,357,881 - 55,357,964RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,252,440 - 55,252,523UniSTS
GeneMap99-GB4 RH Map2174.26UniSTS
RH122259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,536,506 - 55,536,812UniSTSGRCh37
Build 36255,390,010 - 55,390,316RGDNCBI36
Celera255,376,973 - 55,377,279RGD
Cytogenetic Map2p16.1UniSTS
HuRef255,271,585 - 55,271,891UniSTS
TNG Radiation Hybrid Map238357.0UniSTS
UniSTS:15027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,593,591 - 55,593,883UniSTSGRCh37
Build 36255,447,095 - 55,447,387RGDNCBI36
Celera255,434,045 - 55,434,327RGD
HuRef255,328,768 - 55,329,050UniSTS
RH79802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map2q31.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.2UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D8S2282  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4p16.3UniSTS
RH69376  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p16.1UniSTS
GeneMap99-GB4 RH Map2162.78UniSTS
NCBI RH Map2335.7UniSTS
D2S137  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p16.1UniSTS
TNG Radiation Hybrid Map238338.0UniSTS
Stanford-G3 RH Map22253.0UniSTS
NCBI RH Map2335.7UniSTS
GeneMap99-G3 RH Map22210.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 157 507 159 41 595 42 711 118 2372 102 641 594 7 171 287 1
Low 2236 2394 1561 576 1277 417 3642 2067 1360 310 803 1017 167 1 1033 2500 3
Below cutoff 36 86 6 5 78 6 3 11 1 7 14 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB125644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB201172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL036590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV728179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU570532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D64159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA488073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263630   ⟹   ENSP00000263630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,842 - 55,419,888 (-)Ensembl
RefSeq Acc Id: ENST00000336838   ⟹   ENSP00000338728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,842 - 55,419,613 (-)Ensembl
RefSeq Acc Id: ENST00000412148   ⟹   ENSP00000390012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,084 - 55,328,425 (-)Ensembl
RefSeq Acc Id: ENST00000413716   ⟹   ENSP00000404431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,848 - 55,419,878 (-)Ensembl
RefSeq Acc Id: ENST00000426576   ⟹   ENSP00000405080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,293,553 - 55,334,345 (-)Ensembl
RefSeq Acc Id: ENST00000430086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,355,712 - 55,399,777 (-)Ensembl
RefSeq Acc Id: ENST00000436346   ⟹   ENSP00000410608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,842 - 55,419,856 (-)Ensembl
RefSeq Acc Id: ENST00000444458   ⟹   ENSP00000413401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,088 - 55,309,207 (-)Ensembl
RefSeq Acc Id: ENST00000456975   ⟹   ENSP00000415267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,295,797 - 55,328,396 (-)Ensembl
RefSeq Acc Id: ENST00000468534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,332,131 - 55,344,472 (-)Ensembl
RefSeq Acc Id: ENST00000471947   ⟹   ENSP00000494991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,403,387 - 55,419,850 (-)Ensembl
RefSeq Acc Id: ENST00000474059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,309,182 - 55,317,380 (-)Ensembl
RefSeq Acc Id: ENST00000476903   ⟹   ENSP00000494021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,313,829 - 55,316,051 (-)Ensembl
RefSeq Acc Id: ENST00000621814   ⟹   ENSP00000480931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,334,264 - 55,419,613 (-)Ensembl
RefSeq Acc Id: ENST00000642200   ⟹   ENSP00000495919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,848 - 55,419,878 (-)Ensembl
RefSeq Acc Id: ENST00000642266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,343,990 - 55,350,610 (-)Ensembl
RefSeq Acc Id: ENST00000642328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,331,822 - 55,334,151 (-)Ensembl
RefSeq Acc Id: ENST00000642514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,416,923 - 55,418,951 (-)Ensembl
RefSeq Acc Id: ENST00000642563   ⟹   ENSP00000493994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,126 - 55,334,675 (-)Ensembl
RefSeq Acc Id: ENST00000642784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,418,292 - 55,419,661 (-)Ensembl
RefSeq Acc Id: ENST00000642890   ⟹   ENSP00000494371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,009 - 55,419,315 (-)Ensembl
RefSeq Acc Id: ENST00000643103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,655 - 55,296,684 (-)Ensembl
RefSeq Acc Id: ENST00000643205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,348,441 - 55,356,203 (-)Ensembl
RefSeq Acc Id: ENST00000643265   ⟹   ENSP00000496310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,201 - 55,364,019 (-)Ensembl
RefSeq Acc Id: ENST00000643375   ⟹   ENSP00000494876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,849 - 55,334,301 (-)Ensembl
RefSeq Acc Id: ENST00000643413   ⟹   ENSP00000494811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,848 - 55,419,079 (-)Ensembl
RefSeq Acc Id: ENST00000643440   ⟹   ENSP00000494401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,295,607 - 55,301,211 (-)Ensembl
RefSeq Acc Id: ENST00000643634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,316,103 - 55,330,168 (-)Ensembl
RefSeq Acc Id: ENST00000643873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,509 - 55,328,487 (-)Ensembl
RefSeq Acc Id: ENST00000644033   ⟹   ENSP00000496040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,079 - 55,419,730 (-)Ensembl
RefSeq Acc Id: ENST00000644127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,361,913 - 55,419,643 (-)Ensembl
RefSeq Acc Id: ENST00000644157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,388,536 - 55,419,834 (-)Ensembl
RefSeq Acc Id: ENST00000644193   ⟹   ENSP00000495208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,093 - 55,419,540 (-)Ensembl
RefSeq Acc Id: ENST00000644332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,355,323 - 55,362,354 (-)Ensembl
RefSeq Acc Id: ENST00000644390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,308,102 - 55,314,130 (-)Ensembl
RefSeq Acc Id: ENST00000644415   ⟹   ENSP00000496555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,289,673 - 55,312,574 (-)Ensembl
RefSeq Acc Id: ENST00000644456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,810 - 55,315,952 (-)Ensembl
RefSeq Acc Id: ENST00000644512   ⟹   ENSP00000495933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,849 - 55,334,327 (-)Ensembl
RefSeq Acc Id: ENST00000644630   ⟹   ENSP00000495652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,334,336 - 55,419,836 (-)Ensembl
RefSeq Acc Id: ENST00000644662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,014 - 55,337,681 (-)Ensembl
RefSeq Acc Id: ENST00000644809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,118 - 55,292,914 (-)Ensembl
RefSeq Acc Id: ENST00000644825   ⟹   ENSP00000494555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,291,700 - 55,301,272 (-)Ensembl
RefSeq Acc Id: ENST00000644890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,332,131 - 55,419,385 (-)Ensembl
RefSeq Acc Id: ENST00000645031   ⟹   ENSP00000493668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,018 - 55,419,499 (-)Ensembl
RefSeq Acc Id: ENST00000645072   ⟹   ENSP00000494030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,302,730 - 55,419,895 (-)Ensembl
RefSeq Acc Id: ENST00000645168   ⟹   ENSP00000496195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,343,779 - 55,388,844 (-)Ensembl
RefSeq Acc Id: ENST00000645311   ⟹   ENSP00000494054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,181 - 55,419,773 (-)Ensembl
RefSeq Acc Id: ENST00000645342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,332,299 - 55,356,802 (-)Ensembl
RefSeq Acc Id: ENST00000645450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,839 - 55,301,843 (-)Ensembl
RefSeq Acc Id: ENST00000645477   ⟹   ENSP00000495712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,302,663 - 55,419,795 (-)Ensembl
RefSeq Acc Id: ENST00000645484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,049 - 55,394,645 (-)Ensembl
RefSeq Acc Id: ENST00000645485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,307,977 - 55,324,334 (-)Ensembl
RefSeq Acc Id: ENST00000645529   ⟹   ENSP00000496758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,079 - 55,419,732 (-)Ensembl
RefSeq Acc Id: ENST00000645571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,301,668 - 55,419,702 (-)Ensembl
RefSeq Acc Id: ENST00000645860   ⟹   ENSP00000496581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,900 - 55,334,544 (-)Ensembl
RefSeq Acc Id: ENST00000645969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,208 - 55,297,165 (-)Ensembl
RefSeq Acc Id: ENST00000646285   ⟹   ENSP00000493638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,097 - 55,343,688 (-)Ensembl
RefSeq Acc Id: ENST00000646324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,334,844 - 55,397,371 (-)Ensembl
RefSeq Acc Id: ENST00000646474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,334,990 - 55,349,719 (-)Ensembl
RefSeq Acc Id: ENST00000646796   ⟹   ENSP00000493703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,410 - 55,419,276 (-)Ensembl
RefSeq Acc Id: ENST00000647098   ⟹   ENSP00000496475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,334,844 - 55,419,363 (-)Ensembl
RefSeq Acc Id: ENST00000647291   ⟹   ENSP00000494376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,290,655 - 55,318,904 (-)Ensembl
RefSeq Acc Id: ENST00000647341   ⟹   ENSP00000493656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,344,464 - 55,419,565 (-)Ensembl
RefSeq Acc Id: ENST00000647383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,336,716 - 55,364,238 (-)Ensembl
RefSeq Acc Id: ENST00000647396   ⟹   ENSP00000496591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,288,113 - 55,334,691 (-)Ensembl
RefSeq Acc Id: ENST00000647401   ⟹   ENSP00000496148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,872 - 55,419,583 (-)Ensembl
RefSeq Acc Id: ENST00000647517   ⟹   ENSP00000495183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,335,016 - 55,419,815 (-)Ensembl
RefSeq Acc Id: ENST00000647547   ⟹   ENSP00000493675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl255,287,849 - 55,296,455 (-)Ensembl
RefSeq Acc Id: NM_001135597   ⟹   NP_001129069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,287,842 - 55,419,856 (-)NCBI
GRCh37255,514,978 - 55,647,057 (-)NCBI
HuRef255,250,032 - 55,382,309 (-)ENTREZGENE
CHM1_1255,444,983 - 55,577,340 (-)NCBI
T2T-CHM13v2.0255,285,045 - 55,417,059 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001254943   ⟹   NP_001241872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,287,842 - 55,419,856 (-)NCBI
GRCh37255,514,978 - 55,647,057 (-)NCBI
HuRef255,250,032 - 55,382,309 (-)NCBI
CHM1_1255,444,983 - 55,577,340 (-)NCBI
T2T-CHM13v2.0255,285,045 - 55,417,059 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365480   ⟹   NP_001352409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,287,842 - 55,419,856 (-)NCBI
T2T-CHM13v2.0255,285,045 - 55,417,059 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018084   ⟹   NP_060554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,287,842 - 55,419,856 (-)NCBI
GRCh37255,514,978 - 55,647,057 (-)ENTREZGENE
GRCh37255,514,978 - 55,647,057 (-)NCBI
Build 36255,368,482 - 55,500,467 (-)NCBI Archive
HuRef255,250,032 - 55,382,309 (-)ENTREZGENE
CHM1_1255,444,983 - 55,577,340 (-)NCBI
T2T-CHM13v2.0255,285,045 - 55,417,059 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001129069   ⟸   NM_001135597
- Peptide Label: isoform 1
- UniProtKB: Q3V6T2 (UniProtKB/Swiss-Prot),   O14997 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060554   ⟸   NM_018084
- Peptide Label: isoform 2
- UniProtKB: Q3V6T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001241872   ⟸   NM_001254943
- Peptide Label: isoform 3
- UniProtKB: Q3V6T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001352409   ⟸   NM_001365480
- Peptide Label: isoform 4
- UniProtKB: Q7Z3C5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000480931   ⟸   ENST00000621814
RefSeq Acc Id: ENSP00000390012   ⟸   ENST00000412148
RefSeq Acc Id: ENSP00000405080   ⟸   ENST00000426576
RefSeq Acc Id: ENSP00000404431   ⟸   ENST00000413716
RefSeq Acc Id: ENSP00000338728   ⟸   ENST00000336838
RefSeq Acc Id: ENSP00000415267   ⟸   ENST00000456975
RefSeq Acc Id: ENSP00000413401   ⟸   ENST00000444458
RefSeq Acc Id: ENSP00000495919   ⟸   ENST00000642200
RefSeq Acc Id: ENSP00000494991   ⟸   ENST00000471947
RefSeq Acc Id: ENSP00000494371   ⟸   ENST00000642890
RefSeq Acc Id: ENSP00000493994   ⟸   ENST00000642563
RefSeq Acc Id: ENSP00000494876   ⟸   ENST00000643375
RefSeq Acc Id: ENSP00000496310   ⟸   ENST00000643265
RefSeq Acc Id: ENSP00000494811   ⟸   ENST00000643413
RefSeq Acc Id: ENSP00000494401   ⟸   ENST00000643440
RefSeq Acc Id: ENSP00000495652   ⟸   ENST00000644630
RefSeq Acc Id: ENSP00000495933   ⟸   ENST00000644512
RefSeq Acc Id: ENSP00000496555   ⟸   ENST00000644415
RefSeq Acc Id: ENSP00000494555   ⟸   ENST00000644825
RefSeq Acc Id: ENSP00000495208   ⟸   ENST00000644193
RefSeq Acc Id: ENSP00000496040   ⟸   ENST00000644033
RefSeq Acc Id: ENSP00000496581   ⟸   ENST00000645860
RefSeq Acc Id: ENSP00000496195   ⟸   ENST00000645168
RefSeq Acc Id: ENSP00000263630   ⟸   ENST00000263630
RefSeq Acc Id: ENSP00000493668   ⟸   ENST00000645031
RefSeq Acc Id: ENSP00000494030   ⟸   ENST00000645072
RefSeq Acc Id: ENSP00000496758   ⟸   ENST00000645529
RefSeq Acc Id: ENSP00000495712   ⟸   ENST00000645477
RefSeq Acc Id: ENSP00000494054   ⟸   ENST00000645311
RefSeq Acc Id: ENSP00000493638   ⟸   ENST00000646285
RefSeq Acc Id: ENSP00000493703   ⟸   ENST00000646796
RefSeq Acc Id: ENSP00000493656   ⟸   ENST00000647341
RefSeq Acc Id: ENSP00000496591   ⟸   ENST00000647396
RefSeq Acc Id: ENSP00000494376   ⟸   ENST00000647291
RefSeq Acc Id: ENSP00000496475   ⟸   ENST00000647098
RefSeq Acc Id: ENSP00000410608   ⟸   ENST00000436346
RefSeq Acc Id: ENSP00000494021   ⟸   ENST00000476903
RefSeq Acc Id: ENSP00000495183   ⟸   ENST00000647517
RefSeq Acc Id: ENSP00000493675   ⟸   ENST00000647547
RefSeq Acc Id: ENSP00000496148   ⟸   ENST00000647401
Protein Domains
Calponin-homology (CH)   HOOK_N

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3V6T2-F1-model_v2 AlphaFold Q3V6T2 1-1871 view protein structure

Promoters
RGD ID:6860362
Promoter ID:EPDNEW_H3346
Type:initiation region
Name:CCDC88A_1
Description:coiled-coil domain containing 88A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,419,837 - 55,419,897EPDNEW
RGD ID:6796953
Promoter ID:HG_KWN:32711
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000263630,   OTTHUMT00000325314,   UC002RYR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,500,236 - 55,500,736 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_001135597.1(CCDC88A):c.5251G>T (p.Glu1751Ter) single nucleotide variant Malignant melanoma [RCV000060585] Chr2:55295894 [GRCh38]
Chr2:55523030 [GRCh37]
Chr2:55376534 [NCBI36]
Chr2:2p16.1
not provided
NM_001135597.1(CCDC88A):c.2598C>A (p.Asn866Lys) single nucleotide variant Malignant melanoma [RCV000060586] Chr2:55334223 [GRCh38]
Chr2:55561359 [GRCh37]
Chr2:55414863 [NCBI36]
Chr2:2p16.1
not provided
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
NM_001365480.1(CCDC88A):c.2315del (p.Thr771_Leu772insTer) deletion PEHO-like syndrome [RCV000239462] Chr2:55334506 [GRCh38]
Chr2:55561642 [GRCh37]
Chr2:2p16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001365480.1(CCDC88A):c.3047T>C (p.Met1016Thr) single nucleotide variant not provided [RCV000591724] Chr2:55322643 [GRCh38]
Chr2:55549779 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3 copy number gain See cases [RCV000446524] Chr2:54234790..57365499 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)x3 copy number gain See cases [RCV000448299] Chr2:54555290..55741543 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p16.1(chr2:55588867-56927117)x1 copy number loss See cases [RCV000510380] Chr2:55588867..56927117 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001365480.1(CCDC88A):c.800+31T>A single nucleotide variant PEHO-like syndrome [RCV001554375] Chr2:55355548 [GRCh38]
Chr2:55582684 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.2793G>A (p.Glu931=) single nucleotide variant not provided [RCV000897075] Chr2:55332628 [GRCh38]
Chr2:55559764 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.546G>A (p.Ser182=) single nucleotide variant not provided [RCV000917717] Chr2:55362389 [GRCh38]
Chr2:55589525 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2035T>C (p.Leu679=) single nucleotide variant not provided [RCV000899205] Chr2:55334786 [GRCh38]
Chr2:55561922 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.5121A>G (p.Leu1707=) single nucleotide variant not provided [RCV000943238] Chr2:55296027 [GRCh38]
Chr2:55523163 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4635T>C (p.Ser1545=) single nucleotide variant not provided [RCV000936681] Chr2:55301909 [GRCh38]
Chr2:55529045 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4501C>G (p.Leu1501Val) single nucleotide variant not provided [RCV000969432] Chr2:55302043 [GRCh38]
Chr2:55529179 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1029G>A (p.Lys343=) single nucleotide variant not provided [RCV000905715] Chr2:55346187 [GRCh38]
Chr2:55573323 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1656+8C>T single nucleotide variant not provided [RCV000881044] Chr2:55336673 [GRCh38]
Chr2:55563809 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.5082C>T (p.Thr1694=) single nucleotide variant not provided [RCV000922201] Chr2:55296267 [GRCh38]
Chr2:55523403 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1407T>C (p.Asn469=) single nucleotide variant not provided [RCV000899206] Chr2:55339575 [GRCh38]
Chr2:55566711 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1998A>G (p.Ser666=) single nucleotide variant not provided [RCV000976178] Chr2:55334823 [GRCh38]
Chr2:55561959 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2343A>G (p.Gln781=) single nucleotide variant not provided [RCV000924361] Chr2:55334478 [GRCh38]
Chr2:55561614 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3186G>A (p.Lys1062=) single nucleotide variant not provided [RCV000880579] Chr2:55318981 [GRCh38]
Chr2:55546117 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4943G>C (p.Arg1648Thr) single nucleotide variant not provided [RCV000903261] Chr2:55296406 [GRCh38]
Chr2:55523542 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.370C>T (p.Leu124=) single nucleotide variant not provided [RCV000883668] Chr2:55372484 [GRCh38]
Chr2:55599620 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4472-6T>C single nucleotide variant not provided [RCV000941597] Chr2:55302078 [GRCh38]
Chr2:55529214 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5560A>G (p.Lys1854Glu) single nucleotide variant not provided [RCV000903074] Chr2:55291767 [GRCh38]
Chr2:55518903 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.3192G>A (p.Ala1064=) single nucleotide variant not provided [RCV000979611] Chr2:55318975 [GRCh38]
Chr2:55546111 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1230A>G (p.Glu410=) single nucleotide variant not provided [RCV000916338] Chr2:55343751 [GRCh38]
Chr2:55570887 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3603T>G (p.Arg1201=) single nucleotide variant not provided [RCV000960830] Chr2:55317349 [GRCh38]
Chr2:55544485 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1466A>G (p.Asn489Ser) single nucleotide variant not provided [RCV000939692] Chr2:55339516 [GRCh38]
Chr2:55566652 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1369T>C (p.Leu457=) single nucleotide variant not provided [RCV000954382] Chr2:55339613 [GRCh38]
Chr2:55566749 [GRCh37]
Chr2:2p16.1
likely benign
GRCh37/hg19 2p16.1(chr2:55385346-55562517)x3 copy number gain not provided [RCV000848943] Chr2:55385346..55562517 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55616424-56026559)x3 copy number gain not provided [RCV001005277] Chr2:55616424..56026559 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4728G>A (p.Thr1576=) single nucleotide variant not provided [RCV000915234] Chr2:55301222 [GRCh38]
Chr2:55528358 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4139A>G (p.Gln1380Arg) single nucleotide variant not provided [RCV002001681] Chr2:55309195 [GRCh38]
Chr2:55536331 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55378531-55640033)x3 copy number gain not provided [RCV000846175] Chr2:55378531..55640033 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5086G>A (p.Val1696Ile) single nucleotide variant PEHO syndrome [RCV001009548]|not provided [RCV001860604] Chr2:55296263 [GRCh38]
Chr2:55523399 [GRCh37]
Chr2:2p16.1
uncertain significance|not provided
NM_001365480.1(CCDC88A):c.4744+85T>G single nucleotide variant PEHO-like syndrome [RCV001554373] Chr2:55301121 [GRCh38]
Chr2:55528257 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.237A>G (p.Leu79=) single nucleotide variant not provided [RCV000963088] Chr2:55388814 [GRCh38]
Chr2:55615950 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.3895T>C (p.Leu1299=) single nucleotide variant not provided [RCV000885943] Chr2:55315966 [GRCh38]
Chr2:55543102 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.3910A>G (p.Thr1304Ala) single nucleotide variant not provided [RCV000894109] Chr2:55315951 [GRCh38]
Chr2:55543087 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.883-6G>A single nucleotide variant not provided [RCV000905716] Chr2:55346339 [GRCh38]
Chr2:55573475 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1272T>C (p.Asp424=) single nucleotide variant not provided [RCV000928780] Chr2:55343709 [GRCh38]
Chr2:55570845 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5320A>G (p.Thr1774Ala) single nucleotide variant not provided [RCV000886384] Chr2:55295828 [GRCh38]
Chr2:55522964 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1449G>C (p.Val483=) single nucleotide variant not provided [RCV000886385] Chr2:55339533 [GRCh38]
Chr2:55566669 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.5085A>G (p.Ser1695=) single nucleotide variant not provided [RCV000910345] Chr2:55296264 [GRCh38]
Chr2:55523400 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4704A>G (p.Gln1568=) single nucleotide variant not provided [RCV000912098] Chr2:55301246 [GRCh38]
Chr2:55528382 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1534A>G (p.Asn512Asp) single nucleotide variant not provided [RCV000934254] Chr2:55336803 [GRCh38]
Chr2:55563939 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2298A>G (p.Gln766=) single nucleotide variant not provided [RCV000912089] Chr2:55334523 [GRCh38]
Chr2:55561659 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1383A>G (p.Arg461=) single nucleotide variant not provided [RCV000912734] Chr2:55339599 [GRCh38]
Chr2:55566735 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4071A>G (p.Arg1357=) single nucleotide variant not provided [RCV000890348] Chr2:55312442 [GRCh38]
Chr2:55539578 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.4745-53C>T single nucleotide variant PEHO-like syndrome [RCV001554372] Chr2:55299972 [GRCh38]
Chr2:55527108 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.4265C>G (p.Pro1422Arg) single nucleotide variant Microcephaly [RCV001252780] Chr2:55308931 [GRCh38]
Chr2:55536067 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.483A>G (p.Gln161=) single nucleotide variant not provided [RCV001889419] Chr2:55363953 [GRCh38]
Chr2:55591089 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3263G>C (p.Arg1088Thr) single nucleotide variant PEHO-like syndrome [RCV001336238] Chr2:55318904 [GRCh38]
Chr2:55546040 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2061T>C (p.Phe687=) single nucleotide variant not provided [RCV001520395] Chr2:55334760 [GRCh38]
Chr2:55561896 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.882+20G>A single nucleotide variant PEHO-like syndrome [RCV001554374]|not provided [RCV001515835] Chr2:55349498 [GRCh38]
Chr2:55576634 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.627+10A>T single nucleotide variant not provided [RCV001517687] Chr2:55362298 [GRCh38]
Chr2:55589434 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.2013A>T (p.Glu671Asp) single nucleotide variant not provided [RCV001522860] Chr2:55334808 [GRCh38]
Chr2:55561944 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.5092-7del deletion not provided [RCV001518762] Chr2:55296063 [GRCh38]
Chr2:55523199 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.3566A>G (p.Lys1189Arg) single nucleotide variant not provided [RCV001519557] Chr2:55317600 [GRCh38]
Chr2:55544736 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.344-9C>T single nucleotide variant PEHO-like syndrome [RCV001554376]|not provided [RCV001523716] Chr2:55372519 [GRCh38]
Chr2:55599655 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.464C>T (p.Ala155Val) single nucleotide variant not provided [RCV001950184] Chr2:55363972 [GRCh38]
Chr2:55591108 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5459G>A (p.Ser1820Asn) single nucleotide variant not provided [RCV001971374] Chr2:55295689 [GRCh38]
Chr2:55522825 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3022A>C (p.Lys1008Gln) single nucleotide variant not provided [RCV002024934] Chr2:55322668 [GRCh38]
Chr2:55549804 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5477C>A (p.Thr1826Asn) single nucleotide variant not provided [RCV002006011] Chr2:55295671 [GRCh38]
Chr2:55522807 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.274-6T>G single nucleotide variant not provided [RCV001913580] Chr2:55374889 [GRCh38]
Chr2:55602025 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4342A>T (p.Asn1448Tyr) single nucleotide variant not provided [RCV002008491] Chr2:55308854 [GRCh38]
Chr2:55535990 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3840G>A (p.Leu1280=) single nucleotide variant not provided [RCV001894999] Chr2:55316021 [GRCh38]
Chr2:55543157 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4427C>T (p.Pro1476Leu) single nucleotide variant not provided [RCV001915359] Chr2:55303113 [GRCh38]
Chr2:55530249 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3293C>A (p.Thr1098Asn) single nucleotide variant not provided [RCV002025931] Chr2:55318874 [GRCh38]
Chr2:55546010 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4606G>A (p.Ala1536Thr) single nucleotide variant not provided [RCV001948877] Chr2:55301938 [GRCh38]
Chr2:55529074 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4612A>C (p.Asn1538His) single nucleotide variant not provided [RCV002025842] Chr2:55301932 [GRCh38]
Chr2:55529068 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.300G>A (p.Met100Ile) single nucleotide variant not provided [RCV002045845] Chr2:55374857 [GRCh38]
Chr2:55601993 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4559C>T (p.Thr1520Met) single nucleotide variant not provided [RCV001929761] Chr2:55301985 [GRCh38]
Chr2:55529121 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3379C>A (p.Gln1127Lys) single nucleotide variant not provided [RCV002025601] Chr2:55317787 [GRCh38]
Chr2:55544923 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1942del (p.Lys647_Ile648insTer) deletion not provided [RCV001929935] Chr2:55334879 [GRCh38]
Chr2:55562015 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.2143T>A (p.Cys715Ser) single nucleotide variant not provided [RCV001967329] Chr2:55334678 [GRCh38]
Chr2:55561814 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.818A>C (p.Gln273Pro) single nucleotide variant not provided [RCV001896431] Chr2:55349582 [GRCh38]
Chr2:55576718 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3023A>G (p.Lys1008Arg) single nucleotide variant not provided [RCV001930112] Chr2:55322667 [GRCh38]
Chr2:55549803 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2609C>T (p.Ser870Phe) single nucleotide variant not provided [RCV001947851] Chr2:55334212 [GRCh38]
Chr2:55561348 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1911del (p.Glu638fs) deletion not provided [RCV001949606] Chr2:55334910 [GRCh38]
Chr2:55562046 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.182G>C (p.Ser61Thr) single nucleotide variant not provided [RCV001889159] Chr2:55388869 [GRCh38]
Chr2:55616005 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.959_962del (p.Val320fs) deletion not provided [RCV001895834] Chr2:55346254..55346257 [GRCh38]
Chr2:55573390..55573393 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.4553T>C (p.Ile1518Thr) single nucleotide variant not provided [RCV001988356] Chr2:55301991 [GRCh38]
Chr2:55529127 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2014A>C (p.Asn672His) single nucleotide variant not provided [RCV002044732] Chr2:55334807 [GRCh38]
Chr2:55561943 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4568G>A (p.Arg1523Lys) single nucleotide variant not provided [RCV002008369] Chr2:55301976 [GRCh38]
Chr2:55529112 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4646G>C (p.Arg1549Thr) single nucleotide variant not provided [RCV002023372] Chr2:55301898 [GRCh38]
Chr2:55529034 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV001895240] Chr2:55363981 [GRCh38]
Chr2:55591117 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4080-3T>C single nucleotide variant not provided [RCV001987399] Chr2:55309257 [GRCh38]
Chr2:55536393 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5534A>G (p.Asn1845Ser) single nucleotide variant not provided [RCV001928637] Chr2:55295614 [GRCh38]
Chr2:55522750 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2993_2997del (p.Lys998fs) deletion not provided [RCV001892141] Chr2:55328294..55328298 [GRCh38]
Chr2:55555430..55555434 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.2396A>T (p.Asn799Ile) single nucleotide variant not provided [RCV001986710] Chr2:55334425 [GRCh38]
Chr2:55561561 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5456C>T (p.Thr1819Ile) single nucleotide variant not provided [RCV001896657] Chr2:55295692 [GRCh38]
Chr2:55522828 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1318A>G (p.Ser440Gly) single nucleotide variant not provided [RCV002043646] Chr2:55343663 [GRCh38]
Chr2:55570799 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2831A>G (p.His944Arg) single nucleotide variant not provided [RCV001986609] Chr2:55332590 [GRCh38]
Chr2:55559726 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.869G>T (p.Arg290Met) single nucleotide variant not provided [RCV002023753] Chr2:55349531 [GRCh38]
Chr2:55576667 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.522A>G (p.Gln174=) single nucleotide variant not provided [RCV002044850] Chr2:55362413 [GRCh38]
Chr2:55589549 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.283C>G (p.Gln95Glu) single nucleotide variant not provided [RCV002025683] Chr2:55374874 [GRCh38]
Chr2:55602010 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5411G>A (p.Arg1804His) single nucleotide variant not provided [RCV002003446] Chr2:55295737 [GRCh38]
Chr2:55522873 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.402+3A>T single nucleotide variant not provided [RCV001970491] Chr2:55372449 [GRCh38]
Chr2:55599585 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2257C>T (p.Arg753Cys) single nucleotide variant not provided [RCV001911455] Chr2:55334564 [GRCh38]
Chr2:55561700 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.543G>A (p.Met181Ile) single nucleotide variant not provided [RCV002041778] Chr2:55362392 [GRCh38]
Chr2:55589528 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2598C>G (p.Asn866Lys) single nucleotide variant not provided [RCV001983267] Chr2:55334223 [GRCh38]
Chr2:55561359 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4918_4923del (p.Ser1640_Ser1641del) deletion not provided [RCV002020391] Chr2:55296426..55296431 [GRCh38]
Chr2:55523562..55523567 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5165G>A (p.Gly1722Glu) single nucleotide variant not provided [RCV002003748] Chr2:55295983 [GRCh38]
Chr2:55523119 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2839C>A (p.Gln947Lys) single nucleotide variant not provided [RCV001891631] Chr2:55332582 [GRCh38]
Chr2:55559718 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4761C>G (p.Ser1587Arg) single nucleotide variant not provided [RCV002004195] Chr2:55299903 [GRCh38]
Chr2:55527039 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1016T>C (p.Ile339Thr) single nucleotide variant not provided [RCV002004984] Chr2:55346200 [GRCh38]
Chr2:55573336 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543) copy number gain not specified [RCV002052748] Chr2:54555290..55741543 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2101G>A (p.Glu701Lys) single nucleotide variant not provided [RCV001965875] Chr2:55334720 [GRCh38]
Chr2:55561856 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1506G>T (p.Arg502Ser) single nucleotide variant not provided [RCV001983701] Chr2:55339476 [GRCh38]
Chr2:55566612 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.951G>C (p.Glu317Asp) single nucleotide variant not provided [RCV001888922] Chr2:55346265 [GRCh38]
Chr2:55573401 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4633T>C (p.Ser1545Pro) single nucleotide variant not provided [RCV002042440] Chr2:55301911 [GRCh38]
Chr2:55529047 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.26T>A (p.Leu9His) single nucleotide variant not provided [RCV001908648] Chr2:55419054 [GRCh38]
Chr2:55646190 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.206A>G (p.Asn69Ser) single nucleotide variant not provided [RCV002022254] Chr2:55388845 [GRCh38]
Chr2:55615981 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3556T>G (p.Ser1186Ala) single nucleotide variant not provided [RCV002002666] Chr2:55317610 [GRCh38]
Chr2:55544746 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5219C>G (p.Pro1740Arg) single nucleotide variant not provided [RCV001947665] Chr2:55295929 [GRCh38]
Chr2:55523065 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1305_1306del (p.Gln435fs) deletion not provided [RCV001984750] Chr2:55343675..55343676 [GRCh38]
Chr2:55570811..55570812 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.2680G>A (p.Val894Met) single nucleotide variant not provided [RCV001947107] Chr2:55334141 [GRCh38]
Chr2:55561277 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV002042176] Chr2:55363963 [GRCh38]
Chr2:55591099 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5450G>A (p.Arg1817Gln) single nucleotide variant not provided [RCV002024007] Chr2:55295698 [GRCh38]
Chr2:55522834 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1662G>C (p.Lys554Asn) single nucleotide variant not provided [RCV001984803] Chr2:55335159 [GRCh38]
Chr2:55562295 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1426G>A (p.Val476Ile) single nucleotide variant not provided [RCV002005211] Chr2:55339556 [GRCh38]
Chr2:55566692 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5197A>G (p.Arg1733Gly) single nucleotide variant not provided [RCV001986539] Chr2:55295951 [GRCh38]
Chr2:55523087 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5321C>T (p.Thr1774Ile) single nucleotide variant not provided [RCV002024678] Chr2:55295827 [GRCh38]
Chr2:55522963 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2490T>A (p.Asp830Glu) single nucleotide variant not provided [RCV002044266] Chr2:55334331 [GRCh38]
Chr2:55561467 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2981G>A (p.Arg994His) single nucleotide variant not provided [RCV001912711] Chr2:55328310 [GRCh38]
Chr2:55555446 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4811T>A (p.Leu1604Gln) single nucleotide variant not provided [RCV001872562] Chr2:55299853 [GRCh38]
Chr2:55526989 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5581T>G (p.Ser1861Ala) single nucleotide variant not provided [RCV002040360] Chr2:55291746 [GRCh38]
Chr2:55518882 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1839T>G (p.Ile613Met) single nucleotide variant not provided [RCV002004291] Chr2:55334982 [GRCh38]
Chr2:55562118 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3169A>G (p.Thr1057Ala) single nucleotide variant not provided [RCV001913756] Chr2:55318998 [GRCh38]
Chr2:55546134 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.228G>T (p.Met76Ile) single nucleotide variant not provided [RCV001893438] Chr2:55388823 [GRCh38]
Chr2:55615959 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4161_4162dup (p.Pro1388fs) microsatellite not provided [RCV001984956] Chr2:55309171..55309172 [GRCh38]
Chr2:55536307..55536308 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.3772T>A (p.Leu1258Ile) single nucleotide variant not provided [RCV001969180] Chr2:55316089 [GRCh38]
Chr2:55543225 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55588867-56935857) copy number loss not specified [RCV002052759] Chr2:55588867..56935857 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2734G>T (p.Val912Leu) single nucleotide variant not provided [RCV001913037] Chr2:55332687 [GRCh38]
Chr2:55559823 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.472G>A (p.Ala158Thr) single nucleotide variant not provided [RCV001927579] Chr2:55363964 [GRCh38]
Chr2:55591100 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4271G>A (p.Arg1424His) single nucleotide variant not provided [RCV002006263] Chr2:55308925 [GRCh38]
Chr2:55536061 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1786A>G (p.Ile596Val) single nucleotide variant not provided [RCV001870785] Chr2:55335035 [GRCh38]
Chr2:55562171 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1201G>C (p.Asp401His) single nucleotide variant not provided [RCV002043870] Chr2:55343780 [GRCh38]
Chr2:55570916 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.759G>A (p.Leu253=) single nucleotide variant not provided [RCV001890962] Chr2:55355620 [GRCh38]
Chr2:55582756 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55522713)_(55527057_?)dup duplication not provided [RCV001927997] Chr2:55522713..55527057 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.20C>A (p.Thr7Asn) single nucleotide variant not provided [RCV001985476] Chr2:55419060 [GRCh38]
Chr2:55646196 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5437G>A (p.Glu1813Lys) single nucleotide variant not provided [RCV002041821] Chr2:55295711 [GRCh38]
Chr2:55522847 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.604G>A (p.Asp202Asn) single nucleotide variant not provided [RCV002023589] Chr2:55362331 [GRCh38]
Chr2:55589467 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3099A>C (p.Glu1033Asp) single nucleotide variant not provided [RCV001928025] Chr2:55322591 [GRCh38]
Chr2:55549727 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1439G>A (p.Arg480Gln) single nucleotide variant not provided [RCV001948470] Chr2:55339543 [GRCh38]
Chr2:55566679 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.613G>C (p.Asp205His) single nucleotide variant not provided [RCV001969442] Chr2:55362322 [GRCh38]
Chr2:55589458 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3275C>T (p.Ser1092Leu) single nucleotide variant not provided [RCV002022831] Chr2:55318892 [GRCh38]
Chr2:55546028 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1451A>G (p.Asp484Gly) single nucleotide variant not provided [RCV001927398] Chr2:55339531 [GRCh38]
Chr2:55566667 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4319A>G (p.Gln1440Arg) single nucleotide variant not provided [RCV001912884] Chr2:55308877 [GRCh38]
Chr2:55536013 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1798A>G (p.Ser600Gly) single nucleotide variant not provided [RCV001946369] Chr2:55335023 [GRCh38]
Chr2:55562159 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3458A>G (p.Tyr1153Cys) single nucleotide variant not provided [RCV001969107] Chr2:55317708 [GRCh38]
Chr2:55544844 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1010A>C (p.His337Pro) single nucleotide variant not provided [RCV002003977] Chr2:55346206 [GRCh38]
Chr2:55573342 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1354C>T (p.His452Tyr) single nucleotide variant not provided [RCV001945247] Chr2:55339628 [GRCh38]
Chr2:55566764 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3557C>A (p.Ser1186Tyr) single nucleotide variant not provided [RCV001948303] Chr2:55317609 [GRCh38]
Chr2:55544745 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3053A>G (p.Gln1018Arg) single nucleotide variant not provided [RCV001886589] Chr2:55322637 [GRCh38]
Chr2:55549773 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5605C>G (p.Gln1869Glu) single nucleotide variant not provided [RCV001943883] Chr2:55291722 [GRCh38]
Chr2:55518858 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5341A>G (p.Ile1781Val) single nucleotide variant not provided [RCV001959534] Chr2:55295807 [GRCh38]
Chr2:55522943 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5177C>T (p.Pro1726Leu) single nucleotide variant not provided [RCV001993747] Chr2:55295971 [GRCh38]
Chr2:55523107 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1949A>C (p.Asn650Thr) single nucleotide variant not provided [RCV001998687] Chr2:55334872 [GRCh38]
Chr2:55562008 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3350A>C (p.Gln1117Pro) single nucleotide variant not provided [RCV001886666] Chr2:55317816 [GRCh38]
Chr2:55544952 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.985G>C (p.Val329Leu) single nucleotide variant not provided [RCV001888096] Chr2:55346231 [GRCh38]
Chr2:55573367 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1715A>G (p.Gln572Arg) single nucleotide variant not provided [RCV001976868] Chr2:55335106 [GRCh38]
Chr2:55562242 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2284G>C (p.Asp762His) single nucleotide variant not provided [RCV001920732] Chr2:55334537 [GRCh38]
Chr2:55561673 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5309C>T (p.Ala1770Val) single nucleotide variant not provided [RCV002035219] Chr2:55295839 [GRCh38]
Chr2:55522975 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5153C>A (p.Ser1718Tyr) single nucleotide variant not provided [RCV002010699] Chr2:55295995 [GRCh38]
Chr2:55523131 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.276G>T (p.Glu92Asp) single nucleotide variant not provided [RCV001887668] Chr2:55374881 [GRCh38]
Chr2:55602017 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5434G>T (p.Ala1812Ser) single nucleotide variant not provided [RCV001888069] Chr2:55295714 [GRCh38]
Chr2:55522850 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1569T>A (p.Asn523Lys) single nucleotide variant not provided [RCV001944364] Chr2:55336768 [GRCh38]
Chr2:55563904 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5417G>C (p.Ser1806Thr) single nucleotide variant not provided [RCV001916880] Chr2:55295731 [GRCh38]
Chr2:55522867 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5422G>A (p.Val1808Met) single nucleotide variant not provided [RCV001884319] Chr2:55295726 [GRCh38]
Chr2:55522862 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2513A>G (p.Asn838Ser) single nucleotide variant not provided [RCV001961945] Chr2:55334308 [GRCh38]
Chr2:55561444 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.799T>C (p.Leu267=) single nucleotide variant not provided [RCV001924560] Chr2:55355580 [GRCh38]
Chr2:55582716 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2845A>G (p.Thr949Ala) single nucleotide variant not provided [RCV002018902] Chr2:55332576 [GRCh38]
Chr2:55559712 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5147T>C (p.Val1716Ala) single nucleotide variant not provided [RCV001959856] Chr2:55296001 [GRCh38]
Chr2:55523137 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1907A>G (p.His636Arg) single nucleotide variant not provided [RCV001962148] Chr2:55334914 [GRCh38]
Chr2:55562050 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3337A>G (p.Thr1113Ala) single nucleotide variant not provided [RCV001939931] Chr2:55317829 [GRCh38]
Chr2:55544965 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.946C>T (p.Arg316Ter) single nucleotide variant not provided [RCV001960583] Chr2:55346270 [GRCh38]
Chr2:55573406 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.5141T>C (p.Leu1714Ser) single nucleotide variant not provided [RCV002027637] Chr2:55296007 [GRCh38]
Chr2:55523143 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5000G>A (p.Arg1667Gln) single nucleotide variant not provided [RCV001979819] Chr2:55296349 [GRCh38]
Chr2:55523485 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2415A>G (p.Ile805Met) single nucleotide variant not provided [RCV002019223] Chr2:55334406 [GRCh38]
Chr2:55561542 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.704G>C (p.Cys235Ser) single nucleotide variant not provided [RCV002033653] Chr2:55355675 [GRCh38]
Chr2:55582811 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4981T>C (p.Ser1661Pro) single nucleotide variant not provided [RCV001939540] Chr2:55296368 [GRCh38]
Chr2:55523504 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.893del (p.Leu298fs) deletion not provided [RCV001980006] Chr2:55346323 [GRCh38]
Chr2:55573459 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.5210G>T (p.Gly1737Val) single nucleotide variant not provided [RCV002001079] Chr2:55295938 [GRCh38]
Chr2:55523074 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4212A>G (p.Ile1404Met) single nucleotide variant not provided [RCV002046491] Chr2:55308984 [GRCh38]
Chr2:55536120 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2273A>T (p.Tyr758Phe) single nucleotide variant not provided [RCV002000254] Chr2:55334548 [GRCh38]
Chr2:55561684 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4699C>T (p.Pro1567Ser) single nucleotide variant not provided [RCV001907224] Chr2:55301251 [GRCh38]
Chr2:55528387 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5240G>A (p.Arg1747Gln) single nucleotide variant not provided [RCV001962410] Chr2:55295908 [GRCh38]
Chr2:55523044 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2603C>T (p.Thr868Ile) single nucleotide variant not provided [RCV002049344] Chr2:55334218 [GRCh38]
Chr2:55561354 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3607A>G (p.Asn1203Asp) single nucleotide variant not provided [RCV001936290] Chr2:55317345 [GRCh38]
Chr2:55544481 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2758C>A (p.Gln920Lys) single nucleotide variant not provided [RCV001880329] Chr2:55332663 [GRCh38]
Chr2:55559799 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2776G>A (p.Glu926Lys) single nucleotide variant not provided [RCV002010450] Chr2:55332645 [GRCh38]
Chr2:55559781 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4813C>A (p.His1605Asn) single nucleotide variant not provided [RCV001867285] Chr2:55299851 [GRCh38]
Chr2:55526987 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2279G>T (p.Gly760Val) single nucleotide variant not provided [RCV002048171] Chr2:55334542 [GRCh38]
Chr2:55561678 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.403-5T>A single nucleotide variant not provided [RCV002016233] Chr2:55364038 [GRCh38]
Chr2:55591174 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.773C>G (p.Ala258Gly) single nucleotide variant not provided [RCV001933697] Chr2:55355606 [GRCh38]
Chr2:55582742 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1730G>A (p.Ser577Asn) single nucleotide variant not provided [RCV001931183] Chr2:55335091 [GRCh38]
Chr2:55562227 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2699A>G (p.Asp900Gly) single nucleotide variant not provided [RCV001957116] Chr2:55334122 [GRCh38]
Chr2:55561258 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2182A>C (p.Lys728Gln) single nucleotide variant not provided [RCV002016895] Chr2:55334639 [GRCh38]
Chr2:55561775 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4995G>C (p.Glu1665Asp) single nucleotide variant not provided [RCV001867423] Chr2:55296354 [GRCh38]
Chr2:55523490 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2534C>G (p.Ala845Gly) single nucleotide variant not provided [RCV002014422] Chr2:55334287 [GRCh38]
Chr2:55561423 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2356C>A (p.Leu786Ile) single nucleotide variant not provided [RCV001916771] Chr2:55334465 [GRCh38]
Chr2:55561601 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.103A>C (p.Asn35His) single nucleotide variant not provided [RCV001920795] Chr2:55418877 [GRCh38]
Chr2:55646013 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2372T>C (p.Met791Thr) single nucleotide variant not provided [RCV001866340] Chr2:55334449 [GRCh38]
Chr2:55561585 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4264C>T (p.Pro1422Ser) single nucleotide variant not provided [RCV002028569] Chr2:55308932 [GRCh38]
Chr2:55536068 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2930C>T (p.Ala977Val) single nucleotide variant not provided [RCV002013299] Chr2:55328361 [GRCh38]
Chr2:55555497 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5092A>C (p.Ile1698Leu) single nucleotide variant not provided [RCV001975669] Chr2:55296056 [GRCh38]
Chr2:55523192 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.44C>G (p.Thr15Ser) single nucleotide variant not provided [RCV002047208] Chr2:55419036 [GRCh38]
Chr2:55646172 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5486G>A (p.Ser1829Asn) single nucleotide variant not provided [RCV001902672] Chr2:55295662 [GRCh38]
Chr2:55522798 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3041A>C (p.Glu1014Ala) single nucleotide variant not provided [RCV002015731] Chr2:55322649 [GRCh38]
Chr2:55549785 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.541A>G (p.Met181Val) single nucleotide variant not provided [RCV001922581] Chr2:55362394 [GRCh38]
Chr2:55589530 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1960A>G (p.Thr654Ala) single nucleotide variant not provided [RCV001952164] Chr2:55334861 [GRCh38]
Chr2:55561997 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4628A>G (p.Asn1543Ser) single nucleotide variant not provided [RCV001975609] Chr2:55301916 [GRCh38]
Chr2:55529052 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1506G>C (p.Arg502Ser) single nucleotide variant not provided [RCV002013585] Chr2:55339476 [GRCh38]
Chr2:55566612 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3585T>G (p.His1195Gln) single nucleotide variant not provided [RCV001935997] Chr2:55317581 [GRCh38]
Chr2:55544717 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.856A>G (p.Ile286Val) single nucleotide variant not provided [RCV001897119] Chr2:55349544 [GRCh38]
Chr2:55576680 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1830A>T (p.Lys610Asn) single nucleotide variant not provided [RCV001974559] Chr2:55334991 [GRCh38]
Chr2:55562127 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1330G>A (p.Glu444Lys) single nucleotide variant not provided [RCV002048923] Chr2:55343651 [GRCh38]
Chr2:55570787 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4322A>G (p.Asp1441Gly) single nucleotide variant not provided [RCV002029035] Chr2:55308874 [GRCh38]
Chr2:55536010 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4102C>T (p.Arg1368Cys) single nucleotide variant not provided [RCV002030260] Chr2:55309232 [GRCh38]
Chr2:55536368 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2577T>G (p.Ile859Met) single nucleotide variant not provided [RCV001897439] Chr2:55334244 [GRCh38]
Chr2:55561380 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1181T>C (p.Met394Thr) single nucleotide variant not provided [RCV002046389] Chr2:55344375 [GRCh38]
Chr2:55571511 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4735A>G (p.Arg1579Gly) single nucleotide variant not provided [RCV001918756] Chr2:55301215 [GRCh38]
Chr2:55528351 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5107C>G (p.Gln1703Glu) single nucleotide variant not provided [RCV001921596] Chr2:55296041 [GRCh38]
Chr2:55523177 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5026C>T (p.Pro1676Ser) single nucleotide variant not provided [RCV001866946] Chr2:55296323 [GRCh38]
Chr2:55523459 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2950G>C (p.Glu984Gln) single nucleotide variant not provided [RCV001989498] Chr2:55328341 [GRCh38]
Chr2:55555477 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5287G>C (p.Asp1763His) single nucleotide variant not provided [RCV001898968] Chr2:55295861 [GRCh38]
Chr2:55522997 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3707_3709del (p.Val1236del) deletion not provided [RCV001917647] Chr2:55317243..55317245 [GRCh38]
Chr2:55544379..55544381 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4100G>A (p.Arg1367Lys) single nucleotide variant not provided [RCV001938345] Chr2:55309234 [GRCh38]
Chr2:55536370 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3017C>T (p.Ala1006Val) single nucleotide variant not provided [RCV001883736] Chr2:55322673 [GRCh38]
Chr2:55549809 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1022T>A (p.Phe341Tyr) single nucleotide variant not provided [RCV002018134] Chr2:55346194 [GRCh38]
Chr2:55573330 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4727C>T (p.Thr1576Met) single nucleotide variant not provided [RCV001902712] Chr2:55301223 [GRCh38]
Chr2:55528359 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2782T>A (p.Leu928Ile) single nucleotide variant not provided [RCV001961436] Chr2:55332639 [GRCh38]
Chr2:55559775 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4422C>G (p.Asn1474Lys) single nucleotide variant not provided [RCV001877438] Chr2:55303118 [GRCh38]
Chr2:55530254 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4256C>T (p.Thr1419Ile) single nucleotide variant not provided [RCV002046890] Chr2:55308940 [GRCh38]
Chr2:55536076 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2288T>C (p.Ile763Thr) single nucleotide variant not provided [RCV001877571] Chr2:55334533 [GRCh38]
Chr2:55561669 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5612C>T (p.Ser1871Phe) single nucleotide variant not provided [RCV001998304] Chr2:55291715 [GRCh38]
Chr2:55518851 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2368G>C (p.Glu790Gln) single nucleotide variant not provided [RCV001961031] Chr2:55334453 [GRCh38]
Chr2:55561589 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2524C>T (p.Arg842Ter) single nucleotide variant not provided [RCV001953402] Chr2:55334297 [GRCh38]
Chr2:55561433 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.416A>C (p.Glu139Ala) single nucleotide variant not provided [RCV001921696] Chr2:55364020 [GRCh38]
Chr2:55591156 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4268C>T (p.Thr1423Ile) single nucleotide variant not provided [RCV002017247] Chr2:55308928 [GRCh38]
Chr2:55536064 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.988A>T (p.Ser330Cys) single nucleotide variant not provided [RCV002018431] Chr2:55346228 [GRCh38]
Chr2:55573364 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55558401)_(55561804_?)del deletion not provided [RCV002048509] Chr2:55558401..55561804 [GRCh37]
Chr2:2p16.1
likely pathogenic
NM_001365480.1(CCDC88A):c.3527C>T (p.Ser1176Phe) single nucleotide variant not provided [RCV001876739] Chr2:55317639 [GRCh38]
Chr2:55544775 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3664G>A (p.Glu1222Lys) single nucleotide variant not provided [RCV001934201] Chr2:55317288 [GRCh38]
Chr2:55544424 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.494A>G (p.His165Arg) single nucleotide variant not provided [RCV002016651] Chr2:55362441 [GRCh38]
Chr2:55589577 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2218G>A (p.Gly740Ser) single nucleotide variant not provided [RCV001931776] Chr2:55334603 [GRCh38]
Chr2:55561739 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1877G>A (p.Arg626Gln) single nucleotide variant not provided [RCV001974625] Chr2:55334944 [GRCh38]
Chr2:55562080 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1055A>G (p.Asp352Gly) single nucleotide variant not provided [RCV001869884] Chr2:55344501 [GRCh38]
Chr2:55571637 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4511A>G (p.Gln1504Arg) single nucleotide variant not provided [RCV001994314] Chr2:55302033 [GRCh38]
Chr2:55529169 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5497A>G (p.Ile1833Val) single nucleotide variant not provided [RCV001880922] Chr2:55295651 [GRCh38]
Chr2:55522787 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.277A>T (p.Thr93Ser) single nucleotide variant not provided [RCV002011227] Chr2:55374880 [GRCh38]
Chr2:55602016 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1870G>A (p.Gly624Arg) single nucleotide variant not provided [RCV001955169] Chr2:55334951 [GRCh38]
Chr2:55562087 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3110C>T (p.Thr1037Met) single nucleotide variant not provided [RCV001934586] Chr2:55322580 [GRCh38]
Chr2:55549716 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.944T>C (p.Leu315Pro) single nucleotide variant not provided [RCV001904935] Chr2:55346272 [GRCh38]
Chr2:55573408 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1181T>G (p.Met394Arg) single nucleotide variant not provided [RCV001884190] Chr2:55344375 [GRCh38]
Chr2:55571511 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.104A>G (p.Asn35Ser) single nucleotide variant not provided [RCV001900015] Chr2:55418876 [GRCh38]
Chr2:55646012 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2562A>C (p.Glu854Asp) single nucleotide variant not provided [RCV002034054] Chr2:55334259 [GRCh38]
Chr2:55561395 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.926G>T (p.Arg309Leu) single nucleotide variant not provided [RCV001998016] Chr2:55346290 [GRCh38]
Chr2:55573426 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1081A>C (p.Thr361Pro) single nucleotide variant not provided [RCV001991985] Chr2:55344475 [GRCh38]
Chr2:55571611 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.343+5G>T single nucleotide variant not provided [RCV002030450] Chr2:55374809 [GRCh38]
Chr2:55601945 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1377A>G (p.Ser459=) single nucleotide variant not provided [RCV001884290] Chr2:55339605 [GRCh38]
Chr2:55566741 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2768A>G (p.Asn923Ser) single nucleotide variant not provided [RCV001981608] Chr2:55332653 [GRCh38]
Chr2:55559789 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.962G>A (p.Arg321Lys) single nucleotide variant not provided [RCV001925530] Chr2:55346254 [GRCh38]
Chr2:55573390 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5306C>G (p.Ser1769Cys) single nucleotide variant not provided [RCV001926114] Chr2:55295842 [GRCh38]
Chr2:55522978 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1541T>G (p.Ile514Ser) single nucleotide variant not provided [RCV002046468] Chr2:55336796 [GRCh38]
Chr2:55563932 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2727+5A>G single nucleotide variant not provided [RCV001884922] Chr2:55334089 [GRCh38]
Chr2:55561225 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2866C>G (p.Leu956Val) single nucleotide variant not provided [RCV001907399] Chr2:55328425 [GRCh38]
Chr2:55555561 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.377dup (p.Leu126fs) duplication not provided [RCV001866894] Chr2:55372476..55372477 [GRCh38]
Chr2:55599612..55599613 [GRCh37]
Chr2:2p16.1
pathogenic
NM_001365480.1(CCDC88A):c.1514A>C (p.Lys505Thr) single nucleotide variant not provided [RCV001923664] Chr2:55339468 [GRCh38]
Chr2:55566604 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1466A>T (p.Asn489Ile) single nucleotide variant not provided [RCV001898684] Chr2:55339516 [GRCh38]
Chr2:55566652 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1520T>A (p.Val507Asp) single nucleotide variant not provided [RCV001905092] Chr2:55336817 [GRCh38]
Chr2:55563953 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.731A>G (p.Glu244Gly) single nucleotide variant not provided [RCV001904577] Chr2:55355648 [GRCh38]
Chr2:55582784 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4240C>T (p.Arg1414Cys) single nucleotide variant not provided [RCV001916449] Chr2:55308956 [GRCh38]
Chr2:55536092 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5174A>T (p.Lys1725Ile) single nucleotide variant not provided [RCV002017334] Chr2:55295974 [GRCh38]
Chr2:55523110 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5140T>G (p.Leu1714Val) single nucleotide variant not provided [RCV001958504] Chr2:55296008 [GRCh38]
Chr2:55523144 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3688A>G (p.Asn1230Asp) single nucleotide variant not provided [RCV001925646] Chr2:55317264 [GRCh38]
Chr2:55544400 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5153C>T (p.Ser1718Phe) single nucleotide variant not provided [RCV001981188] Chr2:55295995 [GRCh38]
Chr2:55523131 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.700C>T (p.Pro234Ser) single nucleotide variant not provided [RCV001998804] Chr2:55355679 [GRCh38]
Chr2:55582815 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1041+5G>T single nucleotide variant not provided [RCV001938699] Chr2:55346170 [GRCh38]
Chr2:55573306 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.253C>G (p.Gln85Glu) single nucleotide variant not provided [RCV001997349] Chr2:55388798 [GRCh38]
Chr2:55615934 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3325-16A>G single nucleotide variant not provided [RCV001904810] Chr2:55317857 [GRCh38]
Chr2:55544993 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4922G>C (p.Ser1641Thr) single nucleotide variant not provided [RCV001998492] Chr2:55296427 [GRCh38]
Chr2:55523563 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.631A>G (p.Ile211Val) single nucleotide variant not provided [RCV001982048] Chr2:55355748 [GRCh38]
Chr2:55582884 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.725G>A (p.Arg242Gln) single nucleotide variant not provided [RCV001940547] Chr2:55355654 [GRCh38]
Chr2:55582790 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1112G>A (p.Arg371His) single nucleotide variant not provided [RCV002034027] Chr2:55344444 [GRCh38]
Chr2:55571580 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5179G>C (p.Val1727Leu) single nucleotide variant not provided [RCV001884401] Chr2:55295969 [GRCh38]
Chr2:55523105 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.154A>G (p.Met52Val) single nucleotide variant not provided [RCV001905770] Chr2:55418826 [GRCh38]
Chr2:55645962 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4952G>A (p.Arg1651Lys) single nucleotide variant not provided [RCV001995617] Chr2:55296397 [GRCh38]
Chr2:55523533 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3756T>G (p.His1252Gln) single nucleotide variant not provided [RCV002035711] Chr2:55316105 [GRCh38]
Chr2:55543241 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5327G>C (p.Gly1776Ala) single nucleotide variant not provided [RCV001988879] Chr2:55295821 [GRCh38]
Chr2:55522957 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1637G>A (p.Arg546Lys) single nucleotide variant not provided [RCV001915626] Chr2:55336700 [GRCh38]
Chr2:55563836 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2609C>G (p.Ser870Cys) single nucleotide variant not provided [RCV001931230] Chr2:55334212 [GRCh38]
Chr2:55561348 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1324C>T (p.Leu442Phe) single nucleotide variant not provided [RCV001994385] Chr2:55343657 [GRCh38]
Chr2:55570793 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3095G>A (p.Arg1032Gln) single nucleotide variant not provided [RCV001920375] Chr2:55322595 [GRCh38]
Chr2:55549731 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.3506G>A (p.Arg1169His) single nucleotide variant not provided [RCV001902716] Chr2:55317660 [GRCh38]
Chr2:55544796 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1535A>C (p.Asn512Thr) single nucleotide variant not provided [RCV002011500] Chr2:55336802 [GRCh38]
Chr2:55563938 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.952A>G (p.Lys318Glu) single nucleotide variant not provided [RCV002049643] Chr2:55346264 [GRCh38]
Chr2:55573400 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.274-6T>A single nucleotide variant not provided [RCV002015058] Chr2:55374889 [GRCh38]
Chr2:55602025 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.1438C>T (p.Arg480Trp) single nucleotide variant not provided [RCV002016341] Chr2:55339544 [GRCh38]
Chr2:55566680 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.25C>G (p.Leu9Val) single nucleotide variant not provided [RCV002046177] Chr2:55419055 [GRCh38]
Chr2:55646191 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.778A>T (p.Ile260Leu) single nucleotide variant not provided [RCV001898230] Chr2:55355601 [GRCh38]
Chr2:55582737 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.25C>T (p.Leu9Phe) single nucleotide variant not provided [RCV001993828] Chr2:55419055 [GRCh38]
Chr2:55646191 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2929G>T (p.Ala977Ser) single nucleotide variant not provided [RCV001976814] Chr2:55328362 [GRCh38]
Chr2:55555498 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.851T>C (p.Met284Thr) single nucleotide variant not provided [RCV002015456] Chr2:55349549 [GRCh38]
Chr2:55576685 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.900G>A (p.Ser300=) single nucleotide variant not provided [RCV001898292] Chr2:55346316 [GRCh38]
Chr2:55573452 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.254A>G (p.Gln85Arg) single nucleotide variant not provided [RCV001917883] Chr2:55388797 [GRCh38]
Chr2:55615933 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.246G>A (p.Leu82=) single nucleotide variant not provided [RCV001937451] Chr2:55388805 [GRCh38]
Chr2:55615941 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2708C>T (p.Thr903Met) single nucleotide variant not provided [RCV001937537] Chr2:55334113 [GRCh38]
Chr2:55561249 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.4790A>G (p.Asn1597Ser) single nucleotide variant not provided [RCV001930777] Chr2:55299874 [GRCh38]
Chr2:55527010 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.723G>C (p.Lys241Asn) single nucleotide variant not provided [RCV002028456] Chr2:55355656 [GRCh38]
Chr2:55582792 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.870G>C (p.Arg290Ser) single nucleotide variant not provided [RCV002014546] Chr2:55349530 [GRCh38]
Chr2:55576666 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.5550T>C (p.Ser1850=) single nucleotide variant not provided [RCV002015549] Chr2:55295598 [GRCh38]
Chr2:55522734 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.986T>C (p.Val329Ala) single nucleotide variant not provided [RCV001869966] Chr2:55346230 [GRCh38]
Chr2:55573366 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.288A>G (p.Gln96=) single nucleotide variant not provided [RCV002167659] Chr2:55374869 [GRCh38]
Chr2:55602005 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4782C>T (p.Ser1594=) single nucleotide variant not provided [RCV002076375] Chr2:55299882 [GRCh38]
Chr2:55527018 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3324+10_3324+11del microsatellite not provided [RCV002126903] Chr2:55318832..55318833 [GRCh38]
Chr2:55545968..55545969 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3602+20T>C single nucleotide variant not provided [RCV002146974] Chr2:55317544 [GRCh38]
Chr2:55544680 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.403-7A>G single nucleotide variant not provided [RCV002071517] Chr2:55364040 [GRCh38]
Chr2:55591176 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.2391G>A (p.Gln797=) single nucleotide variant not provided [RCV002190316] Chr2:55334430 [GRCh38]
Chr2:55561566 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.303G>A (p.Ser101=) single nucleotide variant not provided [RCV002084681] Chr2:55374854 [GRCh38]
Chr2:55601990 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1152C>T (p.Asn384=) single nucleotide variant not provided [RCV002092186] Chr2:55344404 [GRCh38]
Chr2:55571540 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2976A>G (p.Gln992=) single nucleotide variant not provided [RCV002189491] Chr2:55328315 [GRCh38]
Chr2:55555451 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.117T>C (p.Tyr39=) single nucleotide variant not provided [RCV002105284] Chr2:55418863 [GRCh38]
Chr2:55645999 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4857A>G (p.Gln1619=) single nucleotide variant not provided [RCV002187738] Chr2:55296492 [GRCh38]
Chr2:55523628 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5260T>C (p.Leu1754=) single nucleotide variant not provided [RCV002110212] Chr2:55295888 [GRCh38]
Chr2:55523024 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5551+7dup duplication not provided [RCV002128423] Chr2:55295589..55295590 [GRCh38]
Chr2:55522725..55522726 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4744+14C>A single nucleotide variant not provided [RCV002168285] Chr2:55301192 [GRCh38]
Chr2:55528328 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.343+8T>G single nucleotide variant not provided [RCV002207252] Chr2:55374806 [GRCh38]
Chr2:55601942 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5092-11T>G single nucleotide variant not provided [RCV002109335] Chr2:55296067 [GRCh38]
Chr2:55523203 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1983A>G (p.Leu661=) single nucleotide variant not provided [RCV002129256] Chr2:55334838 [GRCh38]
Chr2:55561974 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5551+10A>G single nucleotide variant not provided [RCV002105962] Chr2:55295587 [GRCh38]
Chr2:55522723 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2167C>T (p.Leu723=) single nucleotide variant not provided [RCV002191533] Chr2:55334654 [GRCh38]
Chr2:55561790 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.465G>A (p.Ala155=) single nucleotide variant not provided [RCV002075052] Chr2:55363971 [GRCh38]
Chr2:55591107 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4767T>C (p.Asp1589=) single nucleotide variant not provided [RCV002112506] Chr2:55299897 [GRCh38]
Chr2:55527033 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5161T>C (p.Leu1721=) single nucleotide variant not provided [RCV002167059] Chr2:55295987 [GRCh38]
Chr2:55523123 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2511A>G (p.Glu837=) single nucleotide variant not provided [RCV002187206] Chr2:55334310 [GRCh38]
Chr2:55561446 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2256A>G (p.Glu752=) single nucleotide variant not provided [RCV002072627] Chr2:55334565 [GRCh38]
Chr2:55561701 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.591A>C (p.Leu197=) single nucleotide variant not provided [RCV002071429] Chr2:55362344 [GRCh38]
Chr2:55589480 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.165-17T>C single nucleotide variant not provided [RCV002146571] Chr2:55388903 [GRCh38]
Chr2:55616039 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2130A>G (p.Val710=) single nucleotide variant not provided [RCV002169617] Chr2:55334691 [GRCh38]
Chr2:55561827 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.273+7_273+16del deletion not provided [RCV002169271] Chr2:55388762..55388771 [GRCh38]
Chr2:55615898..55615907 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2709G>A (p.Thr903=) single nucleotide variant not provided [RCV002129506] Chr2:55334112 [GRCh38]
Chr2:55561248 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2645G>A (p.Arg882His) single nucleotide variant not provided [RCV002075603] Chr2:55334176 [GRCh38]
Chr2:55561312 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1158A>G (p.Gln386=) single nucleotide variant not provided [RCV002164998] Chr2:55344398 [GRCh38]
Chr2:55571534 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.628-8A>T single nucleotide variant not provided [RCV002208237] Chr2:55355759 [GRCh38]
Chr2:55582895 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1608T>C (p.Ala536=) single nucleotide variant not provided [RCV002092829] Chr2:55336729 [GRCh38]
Chr2:55563865 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3603-16C>A single nucleotide variant not provided [RCV002145436] Chr2:55317365 [GRCh38]
Chr2:55544501 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2529A>G (p.Gln843=) single nucleotide variant not provided [RCV002190579] Chr2:55334292 [GRCh38]
Chr2:55561428 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1656+15dup duplication not provided [RCV002166523] Chr2:55336665..55336666 [GRCh38]
Chr2:55563801..55563802 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.411A>G (p.Lys137=) single nucleotide variant not provided [RCV002190868] Chr2:55364025 [GRCh38]
Chr2:55591161 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3934-16G>A single nucleotide variant not provided [RCV002205270] Chr2:55312595 [GRCh38]
Chr2:55539731 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1334-12T>C single nucleotide variant not provided [RCV002145736] Chr2:55339660 [GRCh38]
Chr2:55566796 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.66T>C (p.Val22=) single nucleotide variant not provided [RCV002071311] Chr2:55418914 [GRCh38]
Chr2:55646050 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2409A>G (p.Leu803=) single nucleotide variant not provided [RCV002110799] Chr2:55334412 [GRCh38]
Chr2:55561548 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.630T>G (p.Thr210=) single nucleotide variant not provided [RCV002125278] Chr2:55355749 [GRCh38]
Chr2:55582885 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4224A>G (p.Lys1408=) single nucleotide variant not provided [RCV002185263] Chr2:55308972 [GRCh38]
Chr2:55536108 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.628-8A>G single nucleotide variant not provided [RCV002111536] Chr2:55355759 [GRCh38]
Chr2:55582895 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5040T>C (p.Val1680=) single nucleotide variant not provided [RCV002075266] Chr2:55296309 [GRCh38]
Chr2:55523445 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3075T>C (p.Gly1025=) single nucleotide variant not provided [RCV002091197] Chr2:55322615 [GRCh38]
Chr2:55549751 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2977T>C (p.Leu993=) single nucleotide variant not provided [RCV002085029] Chr2:55328314 [GRCh38]
Chr2:55555450 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1042-12A>G single nucleotide variant not provided [RCV002169361] Chr2:55344526 [GRCh38]
Chr2:55571662 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.486+19T>C single nucleotide variant not provided [RCV002126528] Chr2:55363931 [GRCh38]
Chr2:55591067 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3111G>A (p.Thr1037=) single nucleotide variant not provided [RCV002085500] Chr2:55322579 [GRCh38]
Chr2:55549715 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.165-19A>G single nucleotide variant not provided [RCV002175170] Chr2:55388905 [GRCh38]
Chr2:55616041 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3507T>A (p.Arg1169=) single nucleotide variant not provided [RCV002212498] Chr2:55317659 [GRCh38]
Chr2:55544795 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5355A>G (p.Lys1785=) single nucleotide variant not provided [RCV002189460] Chr2:55295793 [GRCh38]
Chr2:55522929 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2478A>G (p.Gln826=) single nucleotide variant not provided [RCV002114782] Chr2:55334343 [GRCh38]
Chr2:55561479 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3294C>T (p.Thr1098=) single nucleotide variant not provided [RCV002133477] Chr2:55318873 [GRCh38]
Chr2:55546009 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1137A>G (p.Glu379=) single nucleotide variant not provided [RCV002116391] Chr2:55344419 [GRCh38]
Chr2:55571555 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5092-7dup duplication not provided [RCV002216378] Chr2:55296062..55296063 [GRCh38]
Chr2:55523198..55523199 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.1704T>C (p.Ser568=) single nucleotide variant not provided [RCV002147446] Chr2:55335117 [GRCh38]
Chr2:55562253 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.64-8_64-5del microsatellite not provided [RCV002117043] Chr2:55418921..55418924 [GRCh38]
Chr2:55646057..55646060 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3444C>T (p.Asp1148=) single nucleotide variant not provided [RCV002197259] Chr2:55317722 [GRCh38]
Chr2:55544858 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4020A>G (p.Thr1340=) single nucleotide variant not provided [RCV002092599] Chr2:55312493 [GRCh38]
Chr2:55539629 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3834C>T (p.Ser1278=) single nucleotide variant not provided [RCV002196612] Chr2:55316027 [GRCh38]
Chr2:55543163 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3228C>T (p.Asn1076=) single nucleotide variant not provided [RCV002150729] Chr2:55318939 [GRCh38]
Chr2:55546075 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4263A>G (p.Thr1421=) single nucleotide variant not provided [RCV002174337] Chr2:55308933 [GRCh38]
Chr2:55536069 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3746+16_3746+22del microsatellite not provided [RCV002171433] Chr2:55317184..55317190 [GRCh38]
Chr2:55544320..55544326 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1953A>G (p.Leu651=) single nucleotide variant not provided [RCV002175009] Chr2:55334868 [GRCh38]
Chr2:55562004 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1042-17G>A single nucleotide variant not provided [RCV002172723] Chr2:55344531 [GRCh38]
Chr2:55571667 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.403-16del deletion not provided [RCV002152637] Chr2:55364049 [GRCh38]
Chr2:55591185 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.2400A>G (p.Leu800=) single nucleotide variant not provided [RCV002197274] Chr2:55334421 [GRCh38]
Chr2:55561557 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.344-7A>G single nucleotide variant not provided [RCV002115612] Chr2:55372517 [GRCh38]
Chr2:55599653 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4826-20C>T single nucleotide variant not provided [RCV002153203] Chr2:55296543 [GRCh38]
Chr2:55523679 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5199G>A (p.Arg1733=) single nucleotide variant not provided [RCV002078556] Chr2:55295949 [GRCh38]
Chr2:55523085 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3939A>G (p.Leu1313=) single nucleotide variant not provided [RCV002194100] Chr2:55312574 [GRCh38]
Chr2:55539710 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4024T>C (p.Leu1342=) single nucleotide variant not provided [RCV002097647] Chr2:55312489 [GRCh38]
Chr2:55539625 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5091+16G>C single nucleotide variant not provided [RCV002094003] Chr2:55296242 [GRCh38]
Chr2:55523378 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1134T>C (p.His378=) single nucleotide variant not provided [RCV002107101] Chr2:55344422 [GRCh38]
Chr2:55571558 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.180G>A (p.Glu60=) single nucleotide variant not provided [RCV002081065] Chr2:55388871 [GRCh38]
Chr2:55616007 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.789T>A (p.Leu263=) single nucleotide variant not provided [RCV002213965] Chr2:55355590 [GRCh38]
Chr2:55582726 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1384T>C (p.Leu462=) single nucleotide variant not provided [RCV002187751] Chr2:55339598 [GRCh38]
Chr2:55566734 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.344-12T>C single nucleotide variant not provided [RCV002174073] Chr2:55372522 [GRCh38]
Chr2:55599658 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1189-8_1189-7delinsAT indel not provided [RCV002095575] Chr2:55343799..55343800 [GRCh38]
Chr2:55570935..55570936 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.750G>A (p.Ser250=) single nucleotide variant not provided [RCV002134870] Chr2:55355629 [GRCh38]
Chr2:55582765 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4825+15A>G single nucleotide variant not provided [RCV002087625] Chr2:55299824 [GRCh38]
Chr2:55526960 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2998-18T>C single nucleotide variant not provided [RCV002133632] Chr2:55322710 [GRCh38]
Chr2:55549846 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3762T>C (p.Tyr1254=) single nucleotide variant not provided [RCV002149943] Chr2:55316099 [GRCh38]
Chr2:55543235 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1041+10A>C single nucleotide variant not provided [RCV002130670] Chr2:55346165 [GRCh38]
Chr2:55573301 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1188+15G>A single nucleotide variant not provided [RCV002076258] Chr2:55344353 [GRCh38]
Chr2:55571489 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4192C>T (p.Leu1398=) single nucleotide variant not provided [RCV002077454] Chr2:55309004 [GRCh38]
Chr2:55536140 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2961G>A (p.Thr987=) single nucleotide variant not provided [RCV002173046] Chr2:55328330 [GRCh38]
Chr2:55555466 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.354A>T (p.Thr118=) single nucleotide variant not provided [RCV002071279] Chr2:55372500 [GRCh38]
Chr2:55599636 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4745-17C>T single nucleotide variant not provided [RCV002150502] Chr2:55299936 [GRCh38]
Chr2:55527072 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4491G>A (p.Gln1497=) single nucleotide variant not provided [RCV002079309] Chr2:55302053 [GRCh38]
Chr2:55529189 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2319G>A (p.Glu773=) single nucleotide variant not provided [RCV002174124] Chr2:55334502 [GRCh38]
Chr2:55561638 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4575A>G (p.Lys1525=) single nucleotide variant not provided [RCV002126566] Chr2:55301969 [GRCh38]
Chr2:55529105 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2998-15T>C single nucleotide variant not provided [RCV002212211] Chr2:55322707 [GRCh38]
Chr2:55549843 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3579G>A (p.Val1193=) single nucleotide variant not provided [RCV002077749] Chr2:55317587 [GRCh38]
Chr2:55544723 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.486+13A>T single nucleotide variant not provided [RCV002149536] Chr2:55363937 [GRCh38]
Chr2:55591073 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5415A>C (p.Ala1805=) single nucleotide variant not provided [RCV002131645] Chr2:55295733 [GRCh38]
Chr2:55522869 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.274-16G>T single nucleotide variant not provided [RCV002096871] Chr2:55374899 [GRCh38]
Chr2:55602035 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2034A>G (p.Thr678=) single nucleotide variant not provided [RCV002126785] Chr2:55334787 [GRCh38]
Chr2:55561923 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3746+8AT[3] microsatellite not provided [RCV002193894] Chr2:55317191..55317192 [GRCh38]
Chr2:55544327..55544328 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5499A>T (p.Ile1833=) single nucleotide variant not provided [RCV002196845] Chr2:55295649 [GRCh38]
Chr2:55522785 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2322C>T (p.Asn774=) single nucleotide variant not provided [RCV002169754] Chr2:55334499 [GRCh38]
Chr2:55561635 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3945A>G (p.Gln1315=) single nucleotide variant not provided [RCV002132800] Chr2:55312568 [GRCh38]
Chr2:55539704 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3603-4C>A single nucleotide variant not provided [RCV002113314] Chr2:55317353 [GRCh38]
Chr2:55544489 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4672+20T>C single nucleotide variant not provided [RCV002148645] Chr2:55301852 [GRCh38]
Chr2:55528988 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4518A>T (p.Thr1506=) single nucleotide variant not provided [RCV002145643] Chr2:55302026 [GRCh38]
Chr2:55529162 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3525A>G (p.Glu1175=) single nucleotide variant not provided [RCV002079274] Chr2:55317641 [GRCh38]
Chr2:55544777 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4746T>C (p.Ala1582=) single nucleotide variant not provided [RCV002150338] Chr2:55299918 [GRCh38]
Chr2:55527054 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.396A>G (p.Ala132=) single nucleotide variant not provided [RCV002096412] Chr2:55372458 [GRCh38]
Chr2:55599594 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2553A>G (p.Thr851=) single nucleotide variant not provided [RCV002137474] Chr2:55334268 [GRCh38]
Chr2:55561404 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2386T>C (p.Leu796=) single nucleotide variant not provided [RCV002220433] Chr2:55334435 [GRCh38]
Chr2:55561571 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4455C>T (p.Cys1485=) single nucleotide variant not provided [RCV002175554] Chr2:55303085 [GRCh38]
Chr2:55530221 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.164+9T>C single nucleotide variant not provided [RCV002141118] Chr2:55418807 [GRCh38]
Chr2:55645943 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1659T>A (p.Ile553=) single nucleotide variant not provided [RCV002137607] Chr2:55335162 [GRCh38]
Chr2:55562298 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4092T>C (p.Asn1364=) single nucleotide variant not provided [RCV002137609] Chr2:55309242 [GRCh38]
Chr2:55536378 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3669G>A (p.Gln1223=) single nucleotide variant not provided [RCV002081829] Chr2:55317283 [GRCh38]
Chr2:55544419 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3555G>A (p.Lys1185=) single nucleotide variant not provided [RCV002175964] Chr2:55317611 [GRCh38]
Chr2:55544747 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3324+13del deletion not provided [RCV002156401] Chr2:55318830 [GRCh38]
Chr2:55545966 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.900G>C (p.Ser300=) single nucleotide variant not provided [RCV002176183] Chr2:55346316 [GRCh38]
Chr2:55573452 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3746+19A>T single nucleotide variant not provided [RCV002154981] Chr2:55317187 [GRCh38]
Chr2:55544323 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1986A>G (p.Glu662=) single nucleotide variant not provided [RCV002119019] Chr2:55334835 [GRCh38]
Chr2:55561971 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.741A>G (p.Gln247=) single nucleotide variant not provided [RCV002140680] Chr2:55355638 [GRCh38]
Chr2:55582774 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5097G>A (p.Lys1699=) single nucleotide variant not provided [RCV002164699] Chr2:55296051 [GRCh38]
Chr2:55523187 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4388-12C>G single nucleotide variant not provided [RCV002119289] Chr2:55303164 [GRCh38]
Chr2:55530300 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4191T>G (p.Thr1397=) single nucleotide variant not provided [RCV002137352] Chr2:55309005 [GRCh38]
Chr2:55536141 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3429C>A (p.Ile1143=) single nucleotide variant not provided [RCV002117476] Chr2:55317737 [GRCh38]
Chr2:55544873 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4236G>A (p.Arg1412=) single nucleotide variant not provided [RCV002101883] Chr2:55308960 [GRCh38]
Chr2:55536096 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2856-1G>A single nucleotide variant not provided [RCV002157926] Chr2:55328436 [GRCh38]
Chr2:55555572 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5448A>G (p.Thr1816=) single nucleotide variant not provided [RCV002083552] Chr2:55295700 [GRCh38]
Chr2:55522836 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3747-17A>G single nucleotide variant not provided [RCV002083592] Chr2:55316131 [GRCh38]
Chr2:55543267 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.909C>T (p.Arg303=) single nucleotide variant not provided [RCV002204048] Chr2:55346307 [GRCh38]
Chr2:55573443 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.816G>A (p.Glu272=) single nucleotide variant not provided [RCV002175902] Chr2:55349584 [GRCh38]
Chr2:55576720 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.747G>C (p.Leu249=) single nucleotide variant not provided [RCV002135933] Chr2:55355632 [GRCh38]
Chr2:55582768 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.882+12G>C single nucleotide variant not provided [RCV002135938] Chr2:55349506 [GRCh38]
Chr2:55576642 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.486+12T>C single nucleotide variant not provided [RCV002198343] Chr2:55363938 [GRCh38]
Chr2:55591074 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.582A>G (p.Ala194=) single nucleotide variant not provided [RCV002143356] Chr2:55362353 [GRCh38]
Chr2:55589489 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.279T>A (p.Thr93=) single nucleotide variant not provided [RCV002175941] Chr2:55374878 [GRCh38]
Chr2:55602014 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3363C>T (p.Leu1121=) single nucleotide variant not provided [RCV002098577] Chr2:55317803 [GRCh38]
Chr2:55544939 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3580G>A (p.Glu1194Lys) single nucleotide variant PEHO-like syndrome [RCV002243582] Chr2:55317586 [GRCh38]
Chr2:55544722 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_001365480.1(CCDC88A):c.2295T>C (p.Asn765=) single nucleotide variant not provided [RCV002124233] Chr2:55334526 [GRCh38]
Chr2:55561662 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1657-18A>G single nucleotide variant not provided [RCV002156797] Chr2:55335182 [GRCh38]
Chr2:55562318 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1041+10A>T single nucleotide variant not provided [RCV002183976] Chr2:55346165 [GRCh38]
Chr2:55573301 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4827A>T (p.Ala1609=) single nucleotide variant not provided [RCV002164252] Chr2:55296522 [GRCh38]
Chr2:55523658 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3759C>G (p.Thr1253=) single nucleotide variant not provided [RCV002176468] Chr2:55316102 [GRCh38]
Chr2:55543238 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.966C>T (p.Val322=) single nucleotide variant not provided [RCV002144000] Chr2:55346250 [GRCh38]
Chr2:55573386 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2856-14T>G single nucleotide variant not provided [RCV002162736] Chr2:55328449 [GRCh38]
Chr2:55555585 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3585T>C (p.His1195=) single nucleotide variant not provided [RCV002201365] Chr2:55317581 [GRCh38]
Chr2:55544717 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5250G>A (p.Lys1750=) single nucleotide variant not provided [RCV002101635] Chr2:55295898 [GRCh38]
Chr2:55523034 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4672+17A>G single nucleotide variant not provided [RCV002155713] Chr2:55301855 [GRCh38]
Chr2:55528991 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3606C>T (p.Tyr1202=) single nucleotide variant not provided [RCV002122662] Chr2:55317346 [GRCh38]
Chr2:55544482 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.336C>G (p.Pro112=) single nucleotide variant not provided [RCV002083228] Chr2:55374821 [GRCh38]
Chr2:55601957 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.883-15T>A single nucleotide variant not provided [RCV002177290] Chr2:55346348 [GRCh38]
Chr2:55573484 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5484C>T (p.Asp1828=) single nucleotide variant not provided [RCV002161125] Chr2:55295664 [GRCh38]
Chr2:55522800 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3746+7_3746+10del microsatellite not provided [RCV002144377] Chr2:55317196..55317199 [GRCh38]
Chr2:55544332..55544335 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.2727+15C>T single nucleotide variant not provided [RCV002121457] Chr2:55334079 [GRCh38]
Chr2:55561215 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4000T>C (p.Leu1334=) single nucleotide variant not provided [RCV002101959] Chr2:55312513 [GRCh38]
Chr2:55539649 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4744+18A>C single nucleotide variant not provided [RCV002182587] Chr2:55301188 [GRCh38]
Chr2:55528324 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4744+19T>C single nucleotide variant not provided [RCV002163163] Chr2:55301187 [GRCh38]
Chr2:55528323 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.403-12C>G single nucleotide variant not provided [RCV002181005] Chr2:55364045 [GRCh38]
Chr2:55591181 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5583A>T (p.Ser1861=) single nucleotide variant not provided [RCV002141096] Chr2:55291744 [GRCh38]
Chr2:55518880 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5601G>A (p.Glu1867=) single nucleotide variant not provided [RCV002143124] Chr2:55291726 [GRCh38]
Chr2:55518862 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4254A>T (p.Leu1418=) single nucleotide variant not provided [RCV002158714] Chr2:55308942 [GRCh38]
Chr2:55536078 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3252T>C (p.Leu1084=) single nucleotide variant not provided [RCV002140183] Chr2:55318915 [GRCh38]
Chr2:55546051 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3933+18A>C single nucleotide variant not provided [RCV002143747] Chr2:55315910 [GRCh38]
Chr2:55543046 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1206A>G (p.Arg402=) single nucleotide variant not provided [RCV002103107] Chr2:55343775 [GRCh38]
Chr2:55570911 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5310G>A (p.Ala1770=) single nucleotide variant not provided [RCV002203239] Chr2:55295838 [GRCh38]
Chr2:55522974 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3603-15C>T single nucleotide variant not provided [RCV002155948] Chr2:55317364 [GRCh38]
Chr2:55544500 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3746+11T>C single nucleotide variant not provided [RCV002139386] Chr2:55317195 [GRCh38]
Chr2:55544331 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5091+9del deletion not provided [RCV002161610] Chr2:55296249 [GRCh38]
Chr2:55523385 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3193T>C (p.Leu1065=) single nucleotide variant not provided [RCV002154214] Chr2:55318974 [GRCh38]
Chr2:55546110 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3255A>C (p.Ala1085=) single nucleotide variant not provided [RCV002179367] Chr2:55318912 [GRCh38]
Chr2:55546048 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.4172+14A>C single nucleotide variant not provided [RCV002183117] Chr2:55309148 [GRCh38]
Chr2:55536284 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.60T>C (p.Thr20=) single nucleotide variant not provided [RCV002183128] Chr2:55419020 [GRCh38]
Chr2:55646156 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.63+15C>A single nucleotide variant not provided [RCV002216891] Chr2:55419002 [GRCh38]
Chr2:55646138 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1599G>A (p.Lys533=) single nucleotide variant not provided [RCV002119888] Chr2:55336738 [GRCh38]
Chr2:55563874 [GRCh37]
Chr2:2p16.1
benign
NM_001365480.1(CCDC88A):c.3774A>G (p.Leu1258=) single nucleotide variant not provided [RCV002218918] Chr2:55316087 [GRCh38]
Chr2:55543223 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1188+7T>G single nucleotide variant not provided [RCV002081697] Chr2:55344361 [GRCh38]
Chr2:55571497 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.486+18A>G single nucleotide variant not provided [RCV002121941] Chr2:55363932 [GRCh38]
Chr2:55591068 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1329C>T (p.Ser443=) single nucleotide variant not provided [RCV002220960] Chr2:55343652 [GRCh38]
Chr2:55570788 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3057C>T (p.Ser1019=) single nucleotide variant not provided [RCV002177881] Chr2:55322633 [GRCh38]
Chr2:55549769 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4509A>G (p.Gly1503=) single nucleotide variant not provided [RCV002141544] Chr2:55302035 [GRCh38]
Chr2:55529171 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3372G>A (p.Gln1124=) single nucleotide variant not provided [RCV002141576] Chr2:55317794 [GRCh38]
Chr2:55544930 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.5610C>T (p.Ser1870=) single nucleotide variant not provided [RCV002123469] Chr2:55291717 [GRCh38]
Chr2:55518853 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4387+14C>T single nucleotide variant not provided [RCV002204350] Chr2:55308795 [GRCh38]
Chr2:55535931 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4387+20A>G single nucleotide variant not provided [RCV002217715] Chr2:55308789 [GRCh38]
Chr2:55535925 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1254A>C (p.Ala418=) single nucleotide variant not provided [RCV002120714] Chr2:55343727 [GRCh38]
Chr2:55570863 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3363C>A (p.Leu1121=) single nucleotide variant not provided [RCV002201002] Chr2:55317803 [GRCh38]
Chr2:55544939 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.1333+17T>A single nucleotide variant not provided [RCV002140255] Chr2:55343631 [GRCh38]
Chr2:55570767 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3324+7A>G single nucleotide variant not provided [RCV002099222] Chr2:55318836 [GRCh38]
Chr2:55545972 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4826-7C>T single nucleotide variant not provided [RCV002140429] Chr2:55296530 [GRCh38]
Chr2:55523666 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.4096T>C (p.Leu1366=) single nucleotide variant not provided [RCV002176802] Chr2:55309238 [GRCh38]
Chr2:55536374 [GRCh37]
Chr2:2p16.1
likely benign
NM_001365480.1(CCDC88A):c.3325-13T>C single nucleotide variant not provided [RCV002157744] Chr2:55317854 [GRCh38]
Chr2:55544990 [GRCh37]
Chr2:2p16.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25523 AgrOrtholog
COSMIC CCDC88A COSMIC
Ensembl Genes ENSG00000115355 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263630 ENTREZGENE
  ENSP00000263630.8 UniProtKB/Swiss-Prot
  ENSP00000338728 ENTREZGENE
  ENSP00000338728.6 UniProtKB/Swiss-Prot
  ENSP00000390012.1 UniProtKB/TrEMBL
  ENSP00000404431.3 UniProtKB/TrEMBL
  ENSP00000405080.1 UniProtKB/TrEMBL
  ENSP00000410608 ENTREZGENE
  ENSP00000410608.1 UniProtKB/Swiss-Prot
  ENSP00000413401.1 UniProtKB/TrEMBL
  ENSP00000415267.1 UniProtKB/TrEMBL
  ENSP00000493638.1 UniProtKB/TrEMBL
  ENSP00000493656.1 UniProtKB/TrEMBL
  ENSP00000493668.1 UniProtKB/TrEMBL
  ENSP00000493675.1 UniProtKB/TrEMBL
  ENSP00000493703 ENTREZGENE
  ENSP00000493703.1 UniProtKB/Swiss-Prot
  ENSP00000493994.1 UniProtKB/TrEMBL
  ENSP00000494021.1 UniProtKB/TrEMBL
  ENSP00000494030.1 UniProtKB/TrEMBL
  ENSP00000494054.1 UniProtKB/TrEMBL
  ENSP00000494371.1 UniProtKB/TrEMBL
  ENSP00000494376.1 UniProtKB/TrEMBL
  ENSP00000494401.1 UniProtKB/TrEMBL
  ENSP00000494555.1 UniProtKB/TrEMBL
  ENSP00000494811.1 UniProtKB/Swiss-Prot
  ENSP00000494876.1 UniProtKB/TrEMBL
  ENSP00000494991.1 UniProtKB/TrEMBL
  ENSP00000495183.1 UniProtKB/TrEMBL
  ENSP00000495208.1 UniProtKB/TrEMBL
  ENSP00000495652.1 UniProtKB/TrEMBL
  ENSP00000495712.1 UniProtKB/TrEMBL
  ENSP00000495919.1 UniProtKB/Swiss-Prot
  ENSP00000495933.1 UniProtKB/TrEMBL
  ENSP00000496040.1 UniProtKB/TrEMBL
  ENSP00000496148.1 UniProtKB/TrEMBL
  ENSP00000496195.1 UniProtKB/TrEMBL
  ENSP00000496310.1 UniProtKB/TrEMBL
  ENSP00000496475.1 UniProtKB/TrEMBL
  ENSP00000496555.1 UniProtKB/TrEMBL
  ENSP00000496581.1 UniProtKB/TrEMBL
  ENSP00000496591.1 UniProtKB/TrEMBL
  ENSP00000496758.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000263630 ENTREZGENE
  ENST00000263630.13 UniProtKB/Swiss-Prot
  ENST00000336838 ENTREZGENE
  ENST00000336838.10 UniProtKB/Swiss-Prot
  ENST00000412148.6 UniProtKB/TrEMBL
  ENST00000413716.7 UniProtKB/TrEMBL
  ENST00000426576.6 UniProtKB/TrEMBL
  ENST00000436346 ENTREZGENE
  ENST00000436346.7 UniProtKB/Swiss-Prot
  ENST00000444458.5 UniProtKB/TrEMBL
  ENST00000456975.1 UniProtKB/TrEMBL
  ENST00000471947.2 UniProtKB/TrEMBL
  ENST00000476903.1 UniProtKB/TrEMBL
  ENST00000642200.1 UniProtKB/Swiss-Prot
  ENST00000642563.1 UniProtKB/TrEMBL
  ENST00000642890.1 UniProtKB/TrEMBL
  ENST00000643265.1 UniProtKB/TrEMBL
  ENST00000643375.1 UniProtKB/TrEMBL
  ENST00000643413.1 UniProtKB/Swiss-Prot
  ENST00000643440.1 UniProtKB/TrEMBL
  ENST00000644033.1 UniProtKB/TrEMBL
  ENST00000644193.1 UniProtKB/TrEMBL
  ENST00000644415.1 UniProtKB/TrEMBL
  ENST00000644512.1 UniProtKB/TrEMBL
  ENST00000644630.1 UniProtKB/TrEMBL
  ENST00000644825.1 UniProtKB/TrEMBL
  ENST00000645031.1 UniProtKB/TrEMBL
  ENST00000645072.1 UniProtKB/TrEMBL
  ENST00000645168.1 UniProtKB/TrEMBL
  ENST00000645311.1 UniProtKB/TrEMBL
  ENST00000645477.1 UniProtKB/TrEMBL
  ENST00000645529.1 UniProtKB/TrEMBL
  ENST00000645860.1 UniProtKB/TrEMBL
  ENST00000646285.1 UniProtKB/TrEMBL
  ENST00000646796 ENTREZGENE
  ENST00000646796.1 UniProtKB/Swiss-Prot
  ENST00000647098.1 UniProtKB/TrEMBL
  ENST00000647291.1 UniProtKB/TrEMBL
  ENST00000647341.1 UniProtKB/TrEMBL
  ENST00000647396.1 UniProtKB/TrEMBL
  ENST00000647401.1 UniProtKB/TrEMBL
  ENST00000647517.1 UniProtKB/TrEMBL
  ENST00000647547.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115355 GTEx
HGNC ID HGNC:25523 ENTREZGENE
Human Proteome Map CCDC88A Human Proteome Map
InterPro CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Daple UniProtKB/TrEMBL
  Girdin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOOK_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55704 ENTREZGENE
OMIM 609736 OMIM
  617507 OMIM
PANTHER PTHR18947:SF30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18947:SF31 UniProtKB/TrEMBL
Pfam HOOK_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381751 PharmGKB
PROSITE PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4C6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4W8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4X4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4Z5_HUMAN UniProtKB/TrEMBL
  A0A2R8Y562_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5D7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5R4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6B2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7B1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7D4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7D9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7L3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y802_HUMAN UniProtKB/TrEMBL
  A0A2R8Y820_HUMAN UniProtKB/TrEMBL
  A0A2R8Y846_HUMAN UniProtKB/TrEMBL
  A0A2R8Y885_HUMAN UniProtKB/TrEMBL
  A0A2R8YCJ0_HUMAN UniProtKB/TrEMBL
  A0A2R8YCU9_HUMAN UniProtKB/TrEMBL
  A0A2R8YCW0_HUMAN UniProtKB/TrEMBL
  A0A2R8YD81_HUMAN UniProtKB/TrEMBL
  A0A2R8YD99_HUMAN UniProtKB/TrEMBL
  A0A2R8YDS8_HUMAN UniProtKB/TrEMBL
  A0A2R8YFK8_HUMAN UniProtKB/TrEMBL
  A0A2R8YFV1_HUMAN UniProtKB/TrEMBL
  A0A2R8YG52_HUMAN UniProtKB/TrEMBL
  A0A2R8YG73_HUMAN UniProtKB/TrEMBL
  A0A2R8YGU1_HUMAN UniProtKB/TrEMBL
  A0A2U3TZV9_HUMAN UniProtKB/TrEMBL
  GRDN_HUMAN UniProtKB/Swiss-Prot
  H0Y470_HUMAN UniProtKB/TrEMBL
  H0Y7K3_HUMAN UniProtKB/TrEMBL
  H0Y7U8_HUMAN UniProtKB/TrEMBL
  H7C2C6_HUMAN UniProtKB/TrEMBL
  O14997 ENTREZGENE, UniProtKB/TrEMBL
  Q3V6T2 ENTREZGENE
  Q6DCA5_HUMAN UniProtKB/TrEMBL
  Q6PAV0_HUMAN UniProtKB/TrEMBL
  Q7Z3C5 ENTREZGENE
  Q86YH1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A1IGE7 UniProtKB/Swiss-Prot
  B7ZM78 UniProtKB/Swiss-Prot
  C9JG83 UniProtKB/Swiss-Prot
  Q53SF1 UniProtKB/Swiss-Prot
  Q581G3 UniProtKB/Swiss-Prot
  Q5HYD0 UniProtKB/Swiss-Prot
  Q7Z339 UniProtKB/Swiss-Prot
  Q7Z3C5 UniProtKB/Swiss-Prot