Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108907964C>ACA348051050EDAR,RANBP2c.859G>T (p.Asp287Tyr)
c.955G>T (p.Asp319Tyr)
c.1006G>T (p.Asp336Tyr)
c.910G>T (p.Asp304Tyr)
c.286G>T (p.Asp96Tyr)
c.1099G>T (p.Asp367Tyr)
c.1003G>T (p.Asp335Tyr)
c.8370+134918C>A (n.8370+134918C>A)
2g.108907964C>GCA348051051EDAR,RANBP2c.859G>C (p.Asp287His)
c.955G>C (p.Asp319His)
c.1006G>C (p.Asp336His)
c.910G>C (p.Asp304His)
c.286G>C (p.Asp96His)
c.1099G>C (p.Asp367His)
c.1003G>C (p.Asp335His)
c.8370+134918C>G (n.8370+134918C>G)
2g.108907964C>TCA348051052EDAR,RANBP2c.859G>A (p.Asp287Asn)
c.955G>A (p.Asp319Asn)
c.1006G>A (p.Asp336Asn)
c.910G>A (p.Asp304Asn)
c.286G>A (p.Asp96Asn)
c.1099G>A (p.Asp367Asn)
c.1003G>A (p.Asp335Asn)
c.8370+134918C>T (n.8370+134918C>T)
2g.108907965A>CCA348051053EDAR,RANBP2c.858T>G (p.Ser286Arg)
c.954T>G (p.Ser318Arg)
c.1005T>G (p.Ser335Arg)
c.909T>G (p.Ser303Arg)
c.285T>G (p.Ser95Arg)
c.1098T>G (p.Ser366Arg)
c.1002T>G (p.Ser334Arg)
c.8370+134919A>C (n.8370+134919A>C)
2g.108907965A>GCA427911952EDAR,RANBP2c.858T>C (p.Ser286=)
c.954T>C (p.Ser318=)
c.1005T>C (p.Ser335=)
c.909T>C (p.Ser303=)
c.285T>C (p.Ser95=)
c.1098T>C (p.Ser366=)
c.1002T>C (p.Ser334=)
c.8370+134919A>G (n.8370+134919A>G)
2g.108907965A>TCA348051054EDAR,RANBP2c.858T>A (p.Ser286Arg)
c.954T>A (p.Ser318Arg)
c.1005T>A (p.Ser335Arg)
c.909T>A (p.Ser303Arg)
c.285T>A (p.Ser95Arg)
c.1098T>A (p.Ser366Arg)
c.1002T>A (p.Ser334Arg)
c.8370+134919A>T (n.8370+134919A>T)
2g.108907966C>ACA348051055EDAR,RANBP2c.857G>T (p.Ser286Ile)
c.953G>T (p.Ser318Ile)
c.1004G>T (p.Ser335Ile)
c.908G>T (p.Ser303Ile)
c.284G>T (p.Ser95Ile)
c.1097G>T (p.Ser366Ile)
c.1001G>T (p.Ser334Ile)
c.8370+134920C>A (n.8370+134920C>A)
2g.108907966C=CA1278358969EDAR,RANBP2c.857G= (p.Ser286=)
c.953G= (p.Ser318=)
c.1004G= (p.Ser335=)
c.908G= (p.Ser303=)
c.284G= (p.Ser95=)
c.1097G= (p.Ser366=)
c.1001G= (p.Ser334=)
c.8370+134920C= (n.8370+134920C=)
2g.108907966C>GCA53473326EDAR,RANBP2c.857G>C (p.Ser286Thr)
c.953G>C (p.Ser318Thr)
c.1004G>C (p.Ser335Thr)
c.908G>C (p.Ser303Thr)
c.284G>C (p.Ser95Thr)
c.1097G>C (p.Ser366Thr)
c.1001G>C (p.Ser334Thr)
c.8370+134920C>G (n.8370+134920C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108907966C>TCA348051056EDAR,RANBP2c.857G>A (p.Ser286Asn)
c.953G>A (p.Ser318Asn)
c.1004G>A (p.Ser335Asn)
c.908G>A (p.Ser303Asn)
c.284G>A (p.Ser95Asn)
c.1097G>A (p.Ser366Asn)
c.1001G>A (p.Ser334Asn)
c.8370+134920C>T (n.8370+134920C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108907967T>ACA348051059EDAR,RANBP2c.856A>T (p.Ser286Cys)
c.952A>T (p.Ser318Cys)
c.1003A>T (p.Ser335Cys)
c.907A>T (p.Ser303Cys)
c.283A>T (p.Ser95Cys)
c.1096A>T (p.Ser366Cys)
c.1000A>T (p.Ser334Cys)
c.8370+134921T>A (n.8370+134921T>A)
2g.108907967T>CCA348051058EDAR,RANBP2c.856A>G (p.Ser286Gly)
c.952A>G (p.Ser318Gly)
c.1003A>G (p.Ser335Gly)
c.907A>G (p.Ser303Gly)
c.283A>G (p.Ser95Gly)
c.1096A>G (p.Ser366Gly)
c.1000A>G (p.Ser334Gly)
c.8370+134921T>C (n.8370+134921T>C)
2g.108907967T>GCA348051057EDAR,RANBP2c.856A>C (p.Ser286Arg)
c.952A>C (p.Ser318Arg)
c.1003A>C (p.Ser335Arg)
c.907A>C (p.Ser303Arg)
c.283A>C (p.Ser95Arg)
c.1096A>C (p.Ser366Arg)
c.1000A>C (p.Ser334Arg)
c.8370+134921T>G (n.8370+134921T>G)
2g.108907968G>ACA427911953EDAR,RANBP2c.855C>T (p.Asp285=)
c.951C>T (p.Asp317=)
c.1002C>T (p.Asp334=)
c.906C>T (p.Asp302=)
c.282C>T (p.Asp94=)
c.1095C>T (p.Asp365=)
c.999C>T (p.Asp333=)
c.8370+134922G>A (n.8370+134922G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108907968G>CCA348051060EDAR,RANBP2c.855C>G (p.Asp285Glu)
c.951C>G (p.Asp317Glu)
c.1002C>G (p.Asp334Glu)
c.906C>G (p.Asp302Glu)
c.282C>G (p.Asp94Glu)
c.1095C>G (p.Asp365Glu)
c.999C>G (p.Asp333Glu)
c.8370+134922G>C (n.8370+134922G>C)
 gnomAD v4
2g.108907968G=CA1278358970EDAR,RANBP2c.855C= (p.Asp285=)
c.951C= (p.Asp317=)
c.1002C= (p.Asp334=)
c.906C= (p.Asp302=)
c.282C= (p.Asp94=)
c.1095C= (p.Asp365=)
c.999C= (p.Asp333=)
c.8370+134922G= (n.8370+134922G=)
2g.108907968G>TCA348051061EDAR,RANBP2c.855C>A (p.Asp285Glu)
c.951C>A (p.Asp317Glu)
c.1002C>A (p.Asp334Glu)
c.906C>A (p.Asp302Glu)
c.282C>A (p.Asp94Glu)
c.1095C>A (p.Asp365Glu)
c.999C>A (p.Asp333Glu)
c.8370+134922G>T (n.8370+134922G>T)
2g.108907969T>ACA348051062EDAR,RANBP2c.854A>T (p.Asp285Val)
c.950A>T (p.Asp317Val)
c.1001A>T (p.Asp334Val)
c.905A>T (p.Asp302Val)
c.281A>T (p.Asp94Val)
c.1094A>T (p.Asp365Val)
c.998A>T (p.Asp333Val)
c.8370+134923T>A (n.8370+134923T>A)
2g.108907969T>CCA348051063EDAR,RANBP2c.854A>G (p.Asp285Gly)
c.950A>G (p.Asp317Gly)
c.1001A>G (p.Asp334Gly)
c.905A>G (p.Asp302Gly)
c.281A>G (p.Asp94Gly)
c.1094A>G (p.Asp365Gly)
c.998A>G (p.Asp333Gly)
c.8370+134923T>C (n.8370+134923T>C)
2g.108907969T>GCA348051064EDAR,RANBP2c.854A>C (p.Asp285Ala)
c.950A>C (p.Asp317Ala)
c.1001A>C (p.Asp334Ala)
c.905A>C (p.Asp302Ala)
c.281A>C (p.Asp94Ala)
c.1094A>C (p.Asp365Ala)
c.998A>C (p.Asp333Ala)
c.8370+134923T>G (n.8370+134923T>G)
2g.108907970C>ACA348051065EDAR,RANBP2c.853G>T (p.Asp285Tyr)
c.949G>T (p.Asp317Tyr)
c.1000G>T (p.Asp334Tyr)
c.904G>T (p.Asp302Tyr)
c.280G>T (p.Asp94Tyr)
c.1093G>T (p.Asp365Tyr)
c.997G>T (p.Asp333Tyr)
c.8370+134924C>A (n.8370+134924C>A)
 gnomAD v4
2g.108907970C=CA1278358971EDAR,RANBP2c.853G= (p.Asp285=)
c.949G= (p.Asp317=)
c.1000G= (p.Asp334=)
c.904G= (p.Asp302=)
c.280G= (p.Asp94=)
c.1093G= (p.Asp365=)
c.997G= (p.Asp333=)
c.8370+134924C= (n.8370+134924C=)
2g.108907970C>GCA348051066EDAR,RANBP2c.853G>C (p.Asp285His)
c.949G>C (p.Asp317His)
c.1000G>C (p.Asp334His)
c.904G>C (p.Asp302His)
c.280G>C (p.Asp94His)
c.1093G>C (p.Asp365His)
c.997G>C (p.Asp333His)
c.8370+134924C>G (n.8370+134924C>G)
2g.108907970C>TCA348051067EDAR,RANBP2c.853G>A (p.Asp285Asn)
c.949G>A (p.Asp317Asn)
c.1000G>A (p.Asp334Asn)
c.904G>A (p.Asp302Asn)
c.280G>A (p.Asp94Asn)
c.1093G>A (p.Asp365Asn)
c.997G>A (p.Asp333Asn)
c.8370+134924C>T (n.8370+134924C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.108907971G>ACA1824901EDAR,RANBP2c.852C>T (p.Val284=)
c.948C>T (p.Val316=)
c.999C>T (p.Val333=)
c.903C>T (p.Val301=)
c.279C>T (p.Val93=)
c.1092C>T (p.Val364=)
c.996C>T (p.Val332=)
c.8370+134925G>A (n.8370+134925G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907971G>CCA427911955EDAR,RANBP2c.852C>G (p.Val284=)
c.948C>G (p.Val316=)
c.999C>G (p.Val333=)
c.903C>G (p.Val301=)
c.279C>G (p.Val93=)
c.1092C>G (p.Val364=)
c.996C>G (p.Val332=)
c.8370+134925G>C (n.8370+134925G>C)
 gnomAD v4
2g.108907971G=CA1278358972EDAR,RANBP2c.852C= (p.Val284=)
c.948C= (p.Val316=)
c.999C= (p.Val333=)
c.903C= (p.Val301=)
c.279C= (p.Val93=)
c.1092C= (p.Val364=)
c.996C= (p.Val332=)
c.8370+134925G= (n.8370+134925G=)
2g.108907971G>TCA427911954EDAR,RANBP2c.852C>A (p.Val284=)
c.948C>A (p.Val316=)
c.999C>A (p.Val333=)
c.903C>A (p.Val301=)
c.279C>A (p.Val93=)
c.1092C>A (p.Val364=)
c.996C>A (p.Val332=)
c.8370+134925G>T (n.8370+134925G>T)
2g.108907972A>CCA348051068EDAR,RANBP2c.851T>G (p.Val284Gly)
c.947T>G (p.Val316Gly)
c.998T>G (p.Val333Gly)
c.902T>G (p.Val301Gly)
c.278T>G (p.Val93Gly)
c.1091T>G (p.Val364Gly)
c.995T>G (p.Val332Gly)
c.8370+134926A>C (n.8370+134926A>C)
2g.108907972A>GCA348051069EDAR,RANBP2c.851T>C (p.Val284Ala)
c.947T>C (p.Val316Ala)
c.998T>C (p.Val333Ala)
c.902T>C (p.Val301Ala)
c.278T>C (p.Val93Ala)
c.1091T>C (p.Val364Ala)
c.995T>C (p.Val332Ala)
c.8370+134926A>G (n.8370+134926A>G)
2g.108907972A>TCA348051070EDAR,RANBP2c.851T>A (p.Val284Asp)
c.947T>A (p.Val316Asp)
c.998T>A (p.Val333Asp)
c.902T>A (p.Val301Asp)
c.278T>A (p.Val93Asp)
c.1091T>A (p.Val364Asp)
c.995T>A (p.Val332Asp)
c.8370+134926A>T (n.8370+134926A>T)
2g.108907973C>ACA348051072EDAR,RANBP2c.850G>T (p.Val284Phe)
c.946G>T (p.Val316Phe)
c.997G>T (p.Val333Phe)
c.901G>T (p.Val301Phe)
c.277G>T (p.Val93Phe)
c.1090G>T (p.Val364Phe)
c.994G>T (p.Val332Phe)
c.8370+134927C>A (n.8370+134927C>A)
 dbSNP
2g.108907973C=CA1278358973EDAR,RANBP2c.850G= (p.Val284=)
c.946G= (p.Val316=)
c.997G= (p.Val333=)
c.901G= (p.Val301=)
c.277G= (p.Val93=)
c.1090G= (p.Val364=)
c.994G= (p.Val332=)
c.8370+134927C= (n.8370+134927C=)
2g.108907973C>GCA348051071EDAR,RANBP2c.850G>C (p.Val284Leu)
c.946G>C (p.Val316Leu)
c.997G>C (p.Val333Leu)
c.901G>C (p.Val301Leu)
c.277G>C (p.Val93Leu)
c.1090G>C (p.Val364Leu)
c.994G>C (p.Val332Leu)
c.8370+134927C>G (n.8370+134927C>G)
2g.108907973C>TCA1824902EDAR,RANBP2c.850G>A (p.Val284Ile)
c.946G>A (p.Val316Ile)
c.997G>A (p.Val333Ile)
c.901G>A (p.Val301Ile)
c.277G>A (p.Val93Ile)
c.1090G>A (p.Val364Ile)
c.994G>A (p.Val332Ile)
c.8370+134927C>T (n.8370+134927C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907974G>ACA1824903EDAR,RANBP2c.849C>T (p.Ser283=)
c.945C>T (p.Ser315=)
c.996C>T (p.Ser332=)
c.900C>T (p.Ser300=)
c.276C>T (p.Ser92=)
c.1089C>T (p.Ser363=)
c.993C>T (p.Ser331=)
c.8370+134928G>A (n.8370+134928G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108907974G>CCA348051074EDAR,RANBP2c.849C>G (p.Ser283Arg)
c.945C>G (p.Ser315Arg)
c.996C>G (p.Ser332Arg)
c.900C>G (p.Ser300Arg)
c.276C>G (p.Ser92Arg)
c.1089C>G (p.Ser363Arg)
c.993C>G (p.Ser331Arg)
c.8370+134928G>C (n.8370+134928G>C)
2g.108907974G=CA1278358974EDAR,RANBP2c.849C= (p.Ser283=)
c.945C= (p.Ser315=)
c.996C= (p.Ser332=)
c.900C= (p.Ser300=)
c.276C= (p.Ser92=)
c.1089C= (p.Ser363=)
c.993C= (p.Ser331=)
c.8370+134928G= (n.8370+134928G=)
2g.108907974G>TCA348051073EDAR,RANBP2c.849C>A (p.Ser283Arg)
c.945C>A (p.Ser315Arg)
c.996C>A (p.Ser332Arg)
c.900C>A (p.Ser300Arg)
c.276C>A (p.Ser92Arg)
c.1089C>A (p.Ser363Arg)
c.993C>A (p.Ser331Arg)
c.8370+134928G>T (n.8370+134928G>T)
 ClinVar dbSNP
2g.108907975C>ACA348051075EDAR,RANBP2c.848G>T (p.Ser283Ile)
c.944G>T (p.Ser315Ile)
c.995G>T (p.Ser332Ile)
c.899G>T (p.Ser300Ile)
c.275G>T (p.Ser92Ile)
c.1088G>T (p.Ser363Ile)
c.992G>T (p.Ser331Ile)
c.8370+134929C>A (n.8370+134929C>A)
2g.108907975C=CA1278358975EDAR,RANBP2c.848G= (p.Ser283=)
c.944G= (p.Ser315=)
c.995G= (p.Ser332=)
c.899G= (p.Ser300=)
c.275G= (p.Ser92=)
c.1088G= (p.Ser363=)
c.992G= (p.Ser331=)
c.8370+134929C= (n.8370+134929C=)
2g.108907975C>GCA348051076EDAR,RANBP2c.848G>C (p.Ser283Thr)
c.944G>C (p.Ser315Thr)
c.995G>C (p.Ser332Thr)
c.899G>C (p.Ser300Thr)
c.275G>C (p.Ser92Thr)
c.1088G>C (p.Ser363Thr)
c.992G>C (p.Ser331Thr)
c.8370+134929C>G (n.8370+134929C>G)
 dbSNP
2g.108907975C>TCA53473340EDAR,RANBP2c.848G>A (p.Ser283Asn)
c.944G>A (p.Ser315Asn)
c.995G>A (p.Ser332Asn)
c.899G>A (p.Ser300Asn)
c.275G>A (p.Ser92Asn)
c.1088G>A (p.Ser363Asn)
c.992G>A (p.Ser331Asn)
c.8370+134929C>T (n.8370+134929C>T)
 dbSNP gnomAD v4
2g.108907976T>ACA348051077EDAR,RANBP2c.847A>T (p.Ser283Cys)
c.943A>T (p.Ser315Cys)
c.994A>T (p.Ser332Cys)
c.898A>T (p.Ser300Cys)
c.274A>T (p.Ser92Cys)
c.1087A>T (p.Ser363Cys)
c.991A>T (p.Ser331Cys)
c.8370+134930T>A (n.8370+134930T>A)
2g.108907976T>CCA348051078EDAR,RANBP2c.847A>G (p.Ser283Gly)
c.943A>G (p.Ser315Gly)
c.994A>G (p.Ser332Gly)
c.898A>G (p.Ser300Gly)
c.274A>G (p.Ser92Gly)
c.1087A>G (p.Ser363Gly)
c.991A>G (p.Ser331Gly)
c.8370+134930T>C (n.8370+134930T>C)
 gnomAD v4
2g.108907976T>GCA348051079EDAR,RANBP2c.847A>C (p.Ser283Arg)
c.943A>C (p.Ser315Arg)
c.994A>C (p.Ser332Arg)
c.898A>C (p.Ser300Arg)
c.274A>C (p.Ser92Arg)
c.1087A>C (p.Ser363Arg)
c.991A>C (p.Ser331Arg)
c.8370+134930T>G (n.8370+134930T>G)
2g.108907977C>ACA427911956EDAR,RANBP2c.846G>T (p.Arg282=)
c.942G>T (p.Arg314=)
c.993G>T (p.Arg331=)
c.897G>T (p.Arg299=)
c.273G>T (p.Arg91=)
c.1086G>T (p.Arg362=)
c.990G>T (p.Arg330=)
c.8370+134931C>A (n.8370+134931C>A)
2g.108907977C>GCA427911957EDAR,RANBP2c.846G>C (p.Arg282=)
c.942G>C (p.Arg314=)
c.993G>C (p.Arg331=)
c.897G>C (p.Arg299=)
c.273G>C (p.Arg91=)
c.1086G>C (p.Arg362=)
c.990G>C (p.Arg330=)
c.8370+134931C>G (n.8370+134931C>G)
2g.108907977C>TCA427911958EDAR,RANBP2c.846G>A (p.Arg282=)
c.942G>A (p.Arg314=)
c.993G>A (p.Arg331=)
c.897G>A (p.Arg299=)
c.273G>A (p.Arg91=)
c.1086G>A (p.Arg362=)
c.990G>A (p.Arg330=)
c.8370+134931C>T (n.8370+134931C>T)
 gnomAD v4 COSMIC
2g.108907978C>ACA348051080EDAR,RANBP2c.845G>T (p.Arg282Leu)
c.941G>T (p.Arg314Leu)
c.992G>T (p.Arg331Leu)
c.896G>T (p.Arg299Leu)
c.272G>T (p.Arg91Leu)
c.1085G>T (p.Arg362Leu)
c.989G>T (p.Arg330Leu)
c.8370+134932C>A (n.8370+134932C>A)

Number of alleles fetched