Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38925463G>ACA2322550SCN11Ac.664C>T (p.Arg222Cys)
c.708C>T (n.708C>T)
c.83C>T (p.Ala28Val)
c.1039C>T (p.Arg347Cys)
c.391C>T (p.Arg131Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925463G>CCA352173332SCN11Ac.664C>G (p.Arg222Gly)
c.708C>G (n.708C>G)
c.83C>G (p.Ala28Gly)
c.1039C>G (p.Arg347Gly)
c.391C>G (p.Arg131Gly)
3g.38925463G=CA1358731589SCN11Ac.664C= (p.Arg222=)
c.708C= (n.708C=)
c.83C= (p.Ala28=)
c.1039C= (p.Arg347=)
c.391C= (p.Arg131=)
3g.38925463G>TCA352173334SCN11Ac.664C>A (p.Arg222Ser)
c.708C>A (n.708C>A)
c.83C>A (p.Ala28Glu)
c.1039C>A (p.Arg347Ser)
c.391C>A (p.Arg131Ser)
 ClinVar dbSNP gnomAD v4
3g.38925464C>ACA433142271SCN11Ac.663G>T (p.Leu221=)
c.707G>T (n.707G>T)
c.82G>T (p.Ala28Ser)
c.1038G>T (p.Leu346=)
c.390G>T (p.Leu130=)
3g.38925464C>GCA433142272SCN11Ac.663G>C (p.Leu221=)
c.707G>C (n.707G>C)
c.82G>C (p.Ala28Pro)
c.1038G>C (p.Leu346=)
c.390G>C (p.Leu130=)
3g.38925464C>TCA433142273SCN11Ac.663G>A (p.Leu221=)
c.707G>A (n.707G>A)
c.82G>A (p.Ala28Thr)
c.1038G>A (p.Leu346=)
c.390G>A (p.Leu130=)
 gnomAD v4
3g.38925464_38925465delinsCACA1358731590SCN11Ac.662_663delinsTG (p.Leu221=)
c.706_707delinsTG (n.706_707delinsTG)
c.81_82delinsTG (p.Pro27=)
c.1037_1038delinsTG (p.Leu346=)
c.389_390delinsTG (p.Leu130=)
3g.38925465delCA542282192SCN11Ac.662del (p.Leu221ArgfsTer10)
c.706del (n.706del)
c.81del (p.Ala28ArgfsTer22)
c.1037del (p.Leu346ArgfsTer10)
c.389del (p.Leu130ArgfsTer10)
 dbSNP gnomAD v2 gnomAD v4
3g.38925465A=CA1358731591SCN11Ac.662T= (p.Leu221=)
c.706T= (n.706T=)
c.81T= (p.Pro27=)
c.1037T= (p.Leu346=)
c.389T= (p.Leu130=)
3g.38925465A>CCA352173338SCN11Ac.662T>G (p.Leu221Arg)
c.706T>G (n.706T>G)
c.81T>G (p.Pro27=)
c.1037T>G (p.Leu346Arg)
c.389T>G (p.Leu130Arg)
 gnomAD v4
3g.38925465A>GCA352173342SCN11Ac.662T>C (p.Leu221Pro)
c.706T>C (n.706T>C)
c.81T>C (p.Pro27=)
c.1037T>C (p.Leu346Pro)
c.389T>C (p.Leu130Pro)
 ClinVar dbSNP gnomAD v4
3g.38925465A>TCA352173340SCN11Ac.662T>A (p.Leu221Gln)
c.706T>A (n.706T>A)
c.81T>A (p.Pro27=)
c.1037T>A (p.Leu346Gln)
c.389T>A (p.Leu130Gln)
3g.38925466G>ACA433142274SCN11Ac.661C>T (p.Leu221=)
c.705C>T (n.705C>T)
c.80C>T (p.Pro27Leu)
c.1036C>T (p.Leu346=)
c.388C>T (p.Leu130=)
 dbSNP gnomAD v2 gnomAD v4
3g.38925466G>CCA352173345SCN11Ac.661C>G (p.Leu221Val)
c.705C>G (n.705C>G)
c.80C>G (p.Pro27Arg)
c.1036C>G (p.Leu346Val)
c.388C>G (p.Leu130Val)
3g.38925466G=CA1358731592SCN11Ac.661C= (p.Leu221=)
c.705C= (n.705C=)
c.80C= (p.Pro27=)
c.1036C= (p.Leu346=)
c.388C= (p.Leu130=)
3g.38925466G>TCA352173348SCN11Ac.661C>A (p.Leu221Met)
c.705C>A (n.705C>A)
c.80C>A (p.Pro27His)
c.1036C>A (p.Leu346Met)
c.388C>A (p.Leu130Met)
3g.38925467G>ACA433142275SCN11Ac.660C>T (p.Pro220=)
c.704C>T (n.704C>T)
c.79C>T (p.Pro27Ser)
c.1035C>T (p.Pro345=)
c.387C>T (p.Pro129=)
 COSMIC
3g.38925467G>CCA2322551SCN11Ac.660C>G (p.Pro220=)
c.704C>G (n.704C>G)
c.79C>G (p.Pro27Ala)
c.1035C>G (p.Pro345=)
c.387C>G (p.Pro129=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925467G=CA1358731593SCN11Ac.660C= (p.Pro220=)
c.704C= (n.704C=)
c.79C= (p.Pro27=)
c.1035C= (p.Pro345=)
c.387C= (p.Pro129=)
3g.38925467G>TCA433142276SCN11Ac.660C>A (p.Pro220=)
c.704C>A (n.704C>A)
c.79C>A (p.Pro27Thr)
c.1035C>A (p.Pro345=)
c.387C>A (p.Pro129=)
3g.38925468G>ACA352173350SCN11Ac.659C>T (p.Pro220Leu)
c.703C>T (n.703C>T)
c.78C>T (p.Ala26=)
c.1034C>T (p.Pro345Leu)
c.386C>T (p.Pro129Leu)
 COSMIC
3g.38925468G>CCA352173351SCN11Ac.659C>G (p.Pro220Arg)
c.703C>G (n.703C>G)
c.78C>G (p.Ala26=)
c.1034C>G (p.Pro345Arg)
c.386C>G (p.Pro129Arg)
3g.38925468G>TCA352173352SCN11Ac.659C>A (p.Pro220His)
c.703C>A (n.703C>A)
c.78C>A (p.Ala26=)
c.1034C>A (p.Pro345His)
c.386C>A (p.Pro129His)
3g.38925469G>ACA352173353SCN11Ac.658C>T (p.Pro220Ser)
c.702C>T (n.702C>T)
c.77C>T (p.Ala26Val)
c.1033C>T (p.Pro345Ser)
c.385C>T (p.Pro129Ser)
3g.38925469G>CCA352173354SCN11Ac.658C>G (p.Pro220Ala)
c.702C>G (n.702C>G)
c.77C>G (p.Ala26Gly)
c.1033C>G (p.Pro345Ala)
c.385C>G (p.Pro129Ala)
3g.38925469G>TCA352173355SCN11Ac.658C>A (p.Pro220Thr)
c.702C>A (n.702C>A)
c.77C>A (p.Ala26Asp)
c.1033C>A (p.Pro345Thr)
c.385C>A (p.Pro129Thr)
3g.38925470C>ACA352173356SCN11Ac.657G>T (p.Leu219Phe)
c.701G>T (n.701G>T)
c.76G>T (p.Ala26Ser)
c.1032G>T (p.Leu344Phe)
c.384G>T (p.Leu128Phe)
 gnomAD v4
3g.38925470C=CA1358731594SCN11Ac.657G= (p.Leu219=)
c.701G= (n.701G=)
c.76G= (p.Ala26=)
c.1032G= (p.Leu344=)
c.384G= (p.Leu128=)
3g.38925470C>GCA352173357SCN11Ac.657G>C (p.Leu219Phe)
c.701G>C (n.701G>C)
c.76G>C (p.Ala26Pro)
c.1032G>C (p.Leu344Phe)
c.384G>C (p.Leu128Phe)
 COSMIC
3g.38925470C>TCA433142277SCN11Ac.657G>A (p.Leu219=)
c.701G>A (n.701G>A)
c.76G>A (p.Ala26Thr)
c.1032G>A (p.Leu344=)
c.384G>A (p.Leu128=)
 dbSNP gnomAD v2 gnomAD v4
3g.38925471A=CA1358731595SCN11Ac.656T= (p.Leu219=)
c.700T= (n.700T=)
c.75T= (p.Ile25=)
c.1031T= (p.Leu344=)
c.383T= (p.Leu128=)
3g.38925471A>CCA352173360SCN11Ac.656T>G (p.Leu219Trp)
c.700T>G (n.700T>G)
c.75T>G (p.Ile25Met)
c.1031T>G (p.Leu344Trp)
c.383T>G (p.Leu128Trp)
3g.38925471A>GCA352173359SCN11Ac.656T>C (p.Leu219Ser)
c.700T>C (n.700T>C)
c.75T>C (p.Ile25=)
c.1031T>C (p.Leu344Ser)
c.383T>C (p.Leu128Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.38925471A>TCA352173358SCN11Ac.656T>A (p.Leu219Ter)
c.700T>A (n.700T>A)
c.75T>A (p.Ile25=)
c.1031T>A (p.Leu344Ter)
c.383T>A (p.Leu128Ter)
3g.38925472A>CCA352173361SCN11Ac.655T>G (p.Leu219Val)
c.699T>G (n.699T>G)
c.74T>G (p.Ile25Ser)
c.1030T>G (p.Leu344Val)
c.382T>G (p.Leu128Val)
3g.38925472A>GCA433142278SCN11Ac.655T>C (p.Leu219=)
c.699T>C (n.699T>C)
c.74T>C (p.Ile25Thr)
c.1030T>C (p.Leu344=)
c.382T>C (p.Leu128=)
3g.38925472A>TCA352173362SCN11Ac.655T>A (p.Leu219Met)
c.699T>A (n.699T>A)
c.74T>A (p.Ile25Asn)
c.1030T>A (p.Leu344Met)
c.382T>A (p.Leu128Met)
3g.38925473T>ACA433142279SCN11Ac.654A>T (p.Leu218=)
c.698A>T (n.698A>T)
c.73A>T (p.Ile25Phe)
c.1029A>T (p.Leu343=)
c.381A>T (p.Leu127=)
3g.38925473T>CCA433142280SCN11Ac.654A>G (p.Leu218=)
c.698A>G (n.698A>G)
c.73A>G (p.Ile25Val)
c.1029A>G (p.Leu343=)
c.381A>G (p.Leu127=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925473T>GCA433142281SCN11Ac.654A>C (p.Leu218=)
c.698A>C (n.698A>C)
c.73A>C (p.Ile25Leu)
c.1029A>C (p.Leu343=)
c.381A>C (p.Leu127=)
3g.38925473T=CA1358731596SCN11Ac.654A= (p.Leu218=)
c.698A= (n.698A=)
c.73A= (p.Ile25=)
c.1029A= (p.Leu343=)
c.381A= (p.Leu127=)
3g.38925474A>CCA352173363SCN11Ac.653T>G (p.Leu218Arg)
c.697T>G (n.697T>G)
c.72T>G (p.Thr24=)
c.1028T>G (p.Leu343Arg)
c.380T>G (p.Leu127Arg)
3g.38925474A>GCA352173364SCN11Ac.653T>C (p.Leu218Pro)
c.697T>C (n.697T>C)
c.72T>C (p.Thr24=)
c.1028T>C (p.Leu343Pro)
c.380T>C (p.Leu127Pro)
3g.38925474A>TCA352173365SCN11Ac.653T>A (p.Leu218Gln)
c.697T>A (n.697T>A)
c.72T>A (p.Thr24=)
c.1028T>A (p.Leu343Gln)
c.380T>A (p.Leu127Gln)
3g.38925475G>ACA433142282SCN11Ac.652C>T (p.Leu218=)
c.696C>T (n.696C>T)
c.71C>T (p.Thr24Ile)
c.1027C>T (p.Leu343=)
c.379C>T (p.Leu127=)
3g.38925475G>CCA2322552SCN11Ac.652C>G (p.Leu218Val)
c.696C>G (n.696C>G)
c.71C>G (p.Thr24Ser)
c.1027C>G (p.Leu343Val)
c.379C>G (p.Leu127Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925475G=CA1358731597SCN11Ac.652C= (p.Leu218=)
c.696C= (n.696C=)
c.71C= (p.Thr24=)
c.1027C= (p.Leu343=)
c.379C= (p.Leu127=)
3g.38925475G>TCA352173366SCN11Ac.652C>A (p.Leu218Ile)
c.696C>A (n.696C>A)
c.71C>A (p.Thr24Asn)
c.1027C>A (p.Leu343Ile)
c.379C>A (p.Leu127Ile)
3g.38925476T>ACA352173367SCN11Ac.651A>T (p.Lys217Asn)
c.695A>T (n.695A>T)
c.70A>T (p.Thr24Ser)
c.1026A>T (p.Lys342Asn)
c.378A>T (p.Lys126Asn)
3g.38925476T>CCA433142283SCN11Ac.651A>G (p.Lys217=)
c.695A>G (n.695A>G)
c.70A>G (p.Thr24Ala)
c.1026A>G (p.Lys342=)
c.378A>G (p.Lys126=)
3g.38925476T>GCA352173368SCN11Ac.651A>C (p.Lys217Asn)
c.695A>C (n.695A>C)
c.70A>C (p.Thr24Pro)
c.1026A>C (p.Lys342Asn)
c.378A>C (p.Lys126Asn)
3g.38925477T>ACA352173369SCN11Ac.650A>T (p.Lys217Ile)
c.694A>T (n.694A>T)
c.69A>T (p.Gln23His)
c.1025A>T (p.Lys342Ile)
c.377A>T (p.Lys126Ile)
3g.38925477T>CCA2322553SCN11Ac.650A>G (p.Lys217Arg)
c.694A>G (n.694A>G)
c.69A>G (p.Gln23=)
c.1025A>G (p.Lys342Arg)
c.377A>G (p.Lys126Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925477T>GCA352173370SCN11Ac.650A>C (p.Lys217Thr)
c.694A>C (n.694A>C)
c.69A>C (p.Gln23His)
c.1025A>C (p.Lys342Thr)
c.377A>C (p.Lys126Thr)
3g.38925477T=CA1358731598SCN11Ac.650A= (p.Lys217=)
c.694A= (n.694A=)
c.69A= (p.Gln23=)
c.1025A= (p.Lys342=)
c.377A= (p.Lys126=)
3g.38925478T>ACA352173373SCN11Ac.649A>T (p.Lys217Ter)
c.693A>T (n.693A>T)
c.68A>T (p.Gln23Leu)
c.1024A>T (p.Lys342Ter)
c.376A>T (p.Lys126Ter)
 dbSNP
3g.38925478T>CCA352173372SCN11Ac.649A>G (p.Lys217Glu)
c.693A>G (n.693A>G)
c.68A>G (p.Gln23Arg)
c.1024A>G (p.Lys342Glu)
c.376A>G (p.Lys126Glu)
3g.38925478T>GCA352173371SCN11Ac.649A>C (p.Lys217Gln)
c.693A>C (n.693A>C)
c.68A>C (p.Gln23Pro)
c.1024A>C (p.Lys342Gln)
c.376A>C (p.Lys126Gln)
3g.38925478T=CA1358731599SCN11Ac.649A= (p.Lys217=)
c.693A= (n.693A=)
c.68A= (p.Gln23=)
c.1024A= (p.Lys342=)
c.376A= (p.Lys126=)
3g.38925479G>ACA433142285SCN11Ac.648C>T (p.Ile216=)
c.692C>T (n.692C>T)
c.67C>T (p.Gln23Ter)
c.1023C>T (p.Ile341=)
c.375C>T (p.Ile125=)
 gnomAD v4
3g.38925479G>CCA352173374SCN11Ac.648C>G (p.Ile216Met)
c.692C>G (n.692C>G)
c.67C>G (p.Gln23Glu)
c.1023C>G (p.Ile341Met)
c.375C>G (p.Ile125Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925479G=CA1358731600SCN11Ac.648C= (p.Ile216=)
c.692C= (n.692C=)
c.67C= (p.Gln23=)
c.1023C= (p.Ile341=)
c.375C= (p.Ile125=)
3g.38925479G>TCA433142284SCN11Ac.648C>A (p.Ile216=)
c.692C>A (n.692C>A)
c.67C>A (p.Gln23Lys)
c.1023C>A (p.Ile341=)
c.375C>A (p.Ile125=)
3g.38925480A>CCA352173375SCN11Ac.647T>G (p.Ile216Ser)
c.691T>G (n.691T>G)
c.66T>G (p.His22Gln)
c.1022T>G (p.Ile341Ser)
c.374T>G (p.Ile125Ser)
3g.38925480A>GCA352173376SCN11Ac.647T>C (p.Ile216Thr)
c.691T>C (n.691T>C)
c.66T>C (p.His22=)
c.1022T>C (p.Ile341Thr)
c.374T>C (p.Ile125Thr)
 gnomAD v4
3g.38925480A>TCA352173377SCN11Ac.647T>A (p.Ile216Asn)
c.691T>A (n.691T>A)
c.66T>A (p.His22Gln)
c.1022T>A (p.Ile341Asn)
c.374T>A (p.Ile125Asn)
3g.38925481T>ACA352173378SCN11Ac.646A>T (p.Ile216Phe)
c.690A>T (n.690A>T)
c.65A>T (p.His22Leu)
c.1021A>T (p.Ile341Phe)
c.373A>T (p.Ile125Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.38925481T>CCA72974298SCN11Ac.646A>G (p.Ile216Val)
c.690A>G (n.690A>G)
c.65A>G (p.His22Arg)
c.1021A>G (p.Ile341Val)
c.373A>G (p.Ile125Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925481T>GCA352173379SCN11Ac.646A>C (p.Ile216Leu)
c.690A>C (n.690A>C)
c.65A>C (p.His22Pro)
c.1021A>C (p.Ile341Leu)
c.373A>C (p.Ile125Leu)
3g.38925481T=CA1358731601SCN11Ac.646A= (p.Ile216=)
c.690A= (n.690A=)
c.65A= (p.His22=)
c.1021A= (p.Ile341=)
c.373A= (p.Ile125=)
3g.38925482G>ACA2322554SCN11Ac.645C>T (p.Thr215=)
c.689C>T (n.689C>T)
c.64C>T (p.His22Tyr)
c.1020C>T (p.Thr340=)
c.372C>T (p.Thr124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925482G>CCA433142287SCN11Ac.645C>G (p.Thr215=)
c.689C>G (n.689C>G)
c.64C>G (p.His22Asp)
c.1020C>G (p.Thr340=)
c.372C>G (p.Thr124=)
3g.38925482G=CA1358731602SCN11Ac.645C= (p.Thr215=)
c.689C= (n.689C=)
c.64C= (p.His22=)
c.1020C= (p.Thr340=)
c.372C= (p.Thr124=)
3g.38925482G>TCA433142286SCN11Ac.645C>A (p.Thr215=)
c.689C>A (n.689C>A)
c.64C>A (p.His22Asn)
c.1020C>A (p.Thr340=)
c.372C>A (p.Thr124=)
3g.38925483G>ACA352173380SCN11Ac.644C>T (p.Thr215Ile)
c.688C>T (n.688C>T)
c.63C>T (p.His21=)
c.1019C>T (p.Thr340Ile)
c.371C>T (p.Thr124Ile)
 ClinVar
3g.38925483G>CCA352173382SCN11Ac.644C>G (p.Thr215Ser)
c.688C>G (n.688C>G)
c.63C>G (p.His21Gln)
c.1019C>G (p.Thr340Ser)
c.371C>G (p.Thr124Ser)
 ClinVar dbSNP
3g.38925483G=CA1358731603SCN11Ac.644C= (p.Thr215=)
c.688C= (n.688C=)
c.63C= (p.His21=)
c.1019C= (p.Thr340=)
c.371C= (p.Thr124=)
3g.38925483G>TCA352173381SCN11Ac.644C>A (p.Thr215Asn)
c.688C>A (n.688C>A)
c.63C>A (p.His21Gln)
c.1019C>A (p.Thr340Asn)
c.371C>A (p.Thr124Asn)
3g.38925484T>ACA352173383SCN11Ac.643A>T (p.Thr215Ser)
c.687A>T (n.687A>T)
c.62A>T (p.His21Leu)
c.1018A>T (p.Thr340Ser)
c.370A>T (p.Thr124Ser)
3g.38925484T>CCA352173384SCN11Ac.643A>G (p.Thr215Ala)
c.687A>G (n.687A>G)
c.62A>G (p.His21Arg)
c.1018A>G (p.Thr340Ala)
c.370A>G (p.Thr124Ala)
3g.38925484T>GCA352173385SCN11Ac.643A>C (p.Thr215Pro)
c.687A>C (n.687A>C)
c.62A>C (p.His21Pro)
c.1018A>C (p.Thr340Pro)
c.370A>C (p.Thr124Pro)
3g.38925485G>ACA433142288SCN11Ac.642C>T (p.Ile214=)
c.686C>T (n.686C>T)
c.61C>T (p.His21Tyr)
c.1017C>T (p.Ile339=)
c.369C>T (p.Ile123=)
 ClinVar dbSNP
3g.38925485G>CCA352173386SCN11Ac.642C>G (p.Ile214Met)
c.686C>G (n.686C>G)
c.61C>G (p.His21Asp)
c.1017C>G (p.Ile339Met)
c.369C>G (p.Ile123Met)
3g.38925485G=CA1358731604SCN11Ac.642C= (p.Ile214=)
c.686C= (n.686C=)
c.61C= (p.His21=)
c.1017C= (p.Ile339=)
c.369C= (p.Ile123=)
3g.38925485G>TCA433142289SCN11Ac.642C>A (p.Ile214=)
c.686C>A (n.686C>A)
c.61C>A (p.His21Asn)
c.1017C>A (p.Ile339=)
c.369C>A (p.Ile123=)
3g.38925486A=CA1358731605SCN11Ac.641T= (p.Ile214=)
c.685T= (n.685T=)
c.60T= (p.Asn20=)
c.1016T= (p.Ile339=)
c.368T= (p.Ile123=)
3g.38925486A>CCA352173387SCN11Ac.641T>G (p.Ile214Ser)
c.685T>G (n.685T>G)
c.60T>G (p.Asn20Lys)
c.1016T>G (p.Ile339Ser)
c.368T>G (p.Ile123Ser)
3g.38925486A>GCA352173388SCN11Ac.641T>C (p.Ile214Thr)
c.685T>C (n.685T>C)
c.60T>C (p.Asn20=)
c.1016T>C (p.Ile339Thr)
c.368T>C (p.Ile123Thr)
3g.38925486A>TCA2322555SCN11Ac.641T>A (p.Ile214Asn)
c.685T>A (n.685T>A)
c.60T>A (p.Asn20Lys)
c.1016T>A (p.Ile339Asn)
c.368T>A (p.Ile123Asn)
 dbSNP ExAC gnomAD v4
3g.38925487T>ACA352173389SCN11Ac.640A>T (p.Ile214Phe)
c.684A>T (n.684A>T)
c.59A>T (p.Asn20Ile)
c.1015A>T (p.Ile339Phe)
c.367A>T (p.Ile123Phe)
3g.38925487T>CCA352173390SCN11Ac.640A>G (p.Ile214Val)
c.684A>G (n.684A>G)
c.59A>G (p.Asn20Ser)
c.1015A>G (p.Ile339Val)
c.367A>G (p.Ile123Val)
 ClinVar
3g.38925487T>GCA352173391SCN11Ac.640A>C (p.Ile214Leu)
c.684A>C (n.684A>C)
c.59A>C (p.Asn20Thr)
c.1015A>C (p.Ile339Leu)
c.367A>C (p.Ile123Leu)
3g.38925488T>ACA433142291SCN11Ac.639A>T (p.Gly213=)
c.683A>T (n.683A>T)
c.58A>T (p.Asn20Tyr)
c.1014A>T (p.Gly338=)
c.366A>T (p.Gly122=)
 gnomAD v4
3g.38925488T>CCA433142290SCN11Ac.639A>G (p.Gly213=)
c.683A>G (n.683A>G)
c.58A>G (p.Asn20Asp)
c.1014A>G (p.Gly338=)
c.366A>G (p.Gly122=)
3g.38925488T>GCA433142292SCN11Ac.639A>C (p.Gly213=)
c.683A>C (n.683A>C)
c.58A>C (p.Asn20His)
c.1014A>C (p.Gly338=)
c.366A>C (p.Gly122=)
3g.38925489C>ACA352173392SCN11Ac.638G>T (p.Gly213Val)
c.682G>T (n.682G>T)
c.57G>T (p.Arg19Ser)
c.1013G>T (p.Gly338Val)
c.365G>T (p.Gly122Val)
3g.38925489C>GCA352173393SCN11Ac.638G>C (p.Gly213Ala)
c.682G>C (n.682G>C)
c.57G>C (p.Arg19Ser)
c.1013G>C (p.Gly338Ala)
c.365G>C (p.Gly122Ala)
3g.38925489C>TCA352173394SCN11Ac.638G>A (p.Gly213Glu)
c.682G>A (n.682G>A)
c.57G>A (p.Arg19=)
c.1013G>A (p.Gly338Glu)
c.365G>A (p.Gly122Glu)
3g.38925490C>ACA352173395SCN11Ac.637G>T (p.Gly213Ter)
c.681G>T (n.681G>T)
c.56G>T (p.Arg19Met)
c.1012G>T (p.Gly338Ter)
c.364G>T (p.Gly122Ter)
 dbSNP
3g.38925490C=CA1358731606SCN11Ac.637G= (p.Gly213=)
c.681G= (n.681G=)
c.56G= (p.Arg19=)
c.1012G= (p.Gly338=)
c.364G= (p.Gly122=)
3g.38925490C>GCA352173396SCN11Ac.637G>C (p.Gly213Arg)
c.681G>C (n.681G>C)
c.56G>C (p.Arg19Thr)
c.1012G>C (p.Gly338Arg)
c.364G>C (p.Gly122Arg)
3g.38925490C>TCA352173397SCN11Ac.637G>A (p.Gly213Arg)
c.681G>A (n.681G>A)
c.56G>A (p.Arg19Lys)
c.1012G>A (p.Gly338Arg)
c.364G>A (p.Gly122Arg)
3g.38925491T>ACA433142293SCN11Ac.636A>T (p.Pro212=)
c.680A>T (n.680A>T)
c.55A>T (p.Arg19Trp)
c.1011A>T (p.Pro337=)
c.363A>T (p.Pro121=)
3g.38925491T>CCA433142294SCN11Ac.636A>G (p.Pro212=)
c.680A>G (n.680A>G)
c.55A>G (p.Arg19Gly)
c.1011A>G (p.Pro337=)
c.363A>G (p.Pro121=)
3g.38925491T>GCA433142295SCN11Ac.636A>C (p.Pro212=)
c.680A>C (n.680A>C)
c.55A>C (p.Arg19=)
c.1011A>C (p.Pro337=)
c.363A>C (p.Pro121=)
 dbSNP gnomAD v2 gnomAD v4
3g.38925491T=CA1358731607SCN11Ac.636A= (p.Pro212=)
c.680A= (n.680A=)
c.55A= (p.Arg19=)
c.1011A= (p.Pro337=)
c.363A= (p.Pro121=)
3g.38925492G>ACA352173398SCN11Ac.635C>T (p.Pro212Leu)
c.679C>T (n.679C>T)
c.54C>T (p.Ser18=)
c.1010C>T (p.Pro337Leu)
c.362C>T (p.Pro121Leu)
 COSMIC
3g.38925492G>CCA352173399SCN11Ac.635C>G (p.Pro212Arg)
c.679C>G (n.679C>G)
c.54C>G (p.Ser18=)
c.1010C>G (p.Pro337Arg)
c.362C>G (p.Pro121Arg)
 gnomAD v4
3g.38925492G>TCA352173400SCN11Ac.635C>A (p.Pro212Gln)
c.679C>A (n.679C>A)
c.54C>A (p.Ser18=)
c.1010C>A (p.Pro337Gln)
c.362C>A (p.Pro121Gln)
 gnomAD v4
3g.38925493G>ACA352173401SCN11Ac.634C>T (p.Pro212Ser)
c.678C>T (n.678C>T)
c.53C>T (p.Ser18Phe)
c.1009C>T (p.Pro337Ser)
c.361C>T (p.Pro121Ser)
3g.38925493G>CCA352173403SCN11Ac.634C>G (p.Pro212Ala)
c.678C>G (n.678C>G)
c.53C>G (p.Ser18Cys)
c.1009C>G (p.Pro337Ala)
c.361C>G (p.Pro121Ala)
3g.38925493G>TCA352173402SCN11Ac.634C>A (p.Pro212Thr)
c.678C>A (n.678C>A)
c.53C>A (p.Ser18Tyr)
c.1009C>A (p.Pro337Thr)
c.361C>A (p.Pro121Thr)
3g.38925494A=CA1358731608SCN11Ac.633T= (p.Ile211=)
c.677T= (n.677T=)
c.52T= (p.Ser18=)
c.1008T= (p.Ile336=)
c.360T= (p.Ile120=)
3g.38925494A>CCA2322556SCN11Ac.633T>G (p.Ile211Met)
c.677T>G (n.677T>G)
c.52T>G (p.Ser18Ala)
c.1008T>G (p.Ile336Met)
c.360T>G (p.Ile120Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925494A>GCA433142296SCN11Ac.633T>C (p.Ile211=)
c.677T>C (n.677T>C)
c.52T>C (p.Ser18Pro)
c.1008T>C (p.Ile336=)
c.360T>C (p.Ile120=)
3g.38925494A>TCA433142297SCN11Ac.633T>A (p.Ile211=)
c.677T>A (n.677T>A)
c.52T>A (p.Ser18Thr)
c.1008T>A (p.Ile336=)
c.360T>A (p.Ile120=)
3g.38925495dupCA2665132306SCN11Ac.633dup (p.Pro212SerfsTer?)
c.677dup (n.677dup)
c.52dup (p.Ser18PhefsTer20)
c.1008dup (p.Pro337SerfsTer?)
c.360dup (p.Pro121SerfsTer?)
 gnomAD v4
3g.38925495A>CCA352173404SCN11Ac.632T>G (p.Ile211Ser)
c.676T>G (n.676T>G)
c.51T>G (p.Tyr17Ter)
c.1007T>G (p.Ile336Ser)
c.359T>G (p.Ile120Ser)
3g.38925495A>GCA352173405SCN11Ac.632T>C (p.Ile211Thr)
c.676T>C (n.676T>C)
c.51T>C (p.Tyr17=)
c.1007T>C (p.Ile336Thr)
c.359T>C (p.Ile120Thr)
 gnomAD v4
3g.38925495A>TCA352173406SCN11Ac.632T>A (p.Ile211Asn)
c.676T>A (n.676T>A)
c.51T>A (p.Tyr17Ter)
c.1007T>A (p.Ile336Asn)
c.359T>A (p.Ile120Asn)
3g.38925496T>ACA352173407SCN11Ac.631A>T (p.Ile211Phe)
c.675A>T (n.675A>T)
c.50A>T (p.Tyr17Phe)
c.1006A>T (p.Ile336Phe)
c.358A>T (p.Ile120Phe)
3g.38925496T>CCA352173408SCN11Ac.631A>G (p.Ile211Val)
c.675A>G (n.675A>G)
c.50A>G (p.Tyr17Cys)
c.1006A>G (p.Ile336Val)
c.358A>G (p.Ile120Val)
3g.38925496T>GCA352173409SCN11Ac.631A>C (p.Ile211Leu)
c.675A>C (n.675A>C)
c.50A>C (p.Tyr17Ser)
c.1006A>C (p.Ile336Leu)
c.358A>C (p.Ile120Leu)
3g.38925497A>CCA352173410SCN11Ac.630T>G (p.Tyr210Ter)
c.674T>G (n.674T>G)
c.49T>G (p.Tyr17Asp)
c.1005T>G (p.Tyr335Ter)
c.357T>G (p.Tyr119Ter)
3g.38925497A>GCA433142298SCN11Ac.630T>C (p.Tyr210=)
c.674T>C (n.674T>C)
c.49T>C (p.Tyr17His)
c.1005T>C (p.Tyr335=)
c.357T>C (p.Tyr119=)
3g.38925497A>TCA352173411SCN11Ac.630T>A (p.Tyr210Ter)
c.674T>A (n.674T>A)
c.49T>A (p.Tyr17Asn)
c.1005T>A (p.Tyr335Ter)
c.357T>A (p.Tyr119Ter)
3g.38925498T>ACA352173412SCN11Ac.629A>T (p.Tyr210Phe)
c.673A>T (n.673A>T)
c.48A>T (p.Ile16=)
c.1004A>T (p.Tyr335Phe)
c.356A>T (p.Tyr119Phe)
3g.38925498T>CCA2322557SCN11Ac.629A>G (p.Tyr210Cys)
c.673A>G (n.673A>G)
c.48A>G (p.Ile16Met)
c.1004A>G (p.Tyr335Cys)
c.356A>G (p.Tyr119Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925498T>GCA352173413SCN11Ac.629A>C (p.Tyr210Ser)
c.673A>C (n.673A>C)
c.48A>C (p.Ile16=)
c.1004A>C (p.Tyr335Ser)
c.356A>C (p.Tyr119Ser)
3g.38925498T=CA1358731609SCN11Ac.629A= (p.Tyr210=)
c.673A= (n.673A=)
c.48A= (p.Ile16=)
c.1004A= (p.Tyr335=)
c.356A= (p.Tyr119=)
3g.38925499A>CCA352173416SCN11Ac.628T>G (p.Tyr210Asp)
c.672T>G (n.672T>G)
c.47T>G (p.Ile16Arg)
c.1003T>G (p.Tyr335Asp)
c.355T>G (p.Tyr119Asp)
3g.38925499A>GCA352173414SCN11Ac.628T>C (p.Tyr210His)
c.672T>C (n.672T>C)
c.47T>C (p.Ile16Thr)
c.1003T>C (p.Tyr335His)
c.355T>C (p.Tyr119His)
 gnomAD v4
3g.38925499A>TCA352173415SCN11Ac.628T>A (p.Tyr210Asn)
c.672T>A (n.672T>A)
c.47T>A (p.Ile16Lys)
c.1003T>A (p.Tyr335Asn)
c.355T>A (p.Tyr119Asn)
3g.38925500T>ACA433142299SCN11Ac.627A>T (p.Ser209=)
c.671A>T (n.671A>T)
c.46A>T (p.Ile16Leu)
c.1002A>T (p.Ser334=)
c.354A>T (p.Ser118=)
3g.38925500T>CCA2322558SCN11Ac.627A>G (p.Ser209=)
c.671A>G (n.671A>G)
c.46A>G (p.Ile16Val)
c.1002A>G (p.Ser334=)
c.354A>G (p.Ser118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925500T>GCA433142300SCN11Ac.627A>C (p.Ser209=)
c.671A>C (n.671A>C)
c.46A>C (p.Ile16Leu)
c.1002A>C (p.Ser334=)
c.354A>C (p.Ser118=)
3g.38925500T=CA1358731610SCN11Ac.627A= (p.Ser209=)
c.671A= (n.671A=)
c.46A= (p.Ile16=)
c.1002A= (p.Ser334=)
c.354A= (p.Ser118=)
3g.38925501G>ACA352173417SCN11Ac.626C>T (p.Ser209Leu)
c.670C>T (n.670C>T)
c.45C>T (p.Val15=)
c.1001C>T (p.Ser334Leu)
c.353C>T (p.Ser118Leu)
 gnomAD v4
3g.38925501G>CCA352173418SCN11Ac.626C>G (p.Ser209Ter)
c.670C>G (n.670C>G)
c.45C>G (p.Val15=)
c.1001C>G (p.Ser334Ter)
c.353C>G (p.Ser118Ter)
3g.38925501G>TCA352173419SCN11Ac.626C>A (p.Ser209Ter)
c.670C>A (n.670C>A)
c.45C>A (p.Val15=)
c.1001C>A (p.Ser334Ter)
c.353C>A (p.Ser118Ter)
3g.38925502A>CCA352173420SCN11Ac.625T>G (p.Ser209Ala)
c.669T>G (n.669T>G)
c.44T>G (p.Val15Gly)
c.1000T>G (p.Ser334Ala)
c.352T>G (p.Ser118Ala)
3g.38925502A>GCA352173421SCN11Ac.625T>C (p.Ser209Pro)
c.669T>C (n.669T>C)
c.44T>C (p.Val15Ala)
c.1000T>C (p.Ser334Pro)
c.352T>C (p.Ser118Pro)
3g.38925502A>TCA352173422SCN11Ac.625T>A (p.Ser209Thr)
c.669T>A (n.669T>A)
c.44T>A (p.Val15Asp)
c.1000T>A (p.Ser334Thr)
c.352T>A (p.Ser118Thr)
3g.38925505_38925506delCA2665132307SCN11Ac.624_625del (p.Ser209IlefsTer?)
c.668_669del (n.668_669del)
c.43_44del (p.Val15HisfsTer22)
c.999_1000del (p.Ser334IlefsTer?)
c.351_352del (p.Ser118IlefsTer?)
 gnomAD v4
3g.38925503C>ACA433142301SCN11Ac.624G>T (p.Val208=)
c.668G>T (n.668G>T)
c.43G>T (p.Val15Phe)
c.999G>T (p.Val333=)
c.351G>T (p.Val117=)
 gnomAD v4
3g.38925503C=CA1358731611SCN11Ac.624G= (p.Val208=)
c.668G= (n.668G=)
c.43G= (p.Val15=)
c.999G= (p.Val333=)
c.351G= (p.Val117=)
3g.38925503C>GCA433142302SCN11Ac.624G>C (p.Val208=)
c.668G>C (n.668G>C)
c.43G>C (p.Val15Leu)
c.999G>C (p.Val333=)
c.351G>C (p.Val117=)
3g.38925503C>TCA72974346SCN11Ac.624G>A (p.Val208=)
c.668G>A (n.668G>A)
c.43G>A (p.Val15Ile)
c.999G>A (p.Val333=)
c.351G>A (p.Val117=)
 dbSNP gnomAD v4
3g.38925504A>CCA352173423SCN11Ac.623T>G (p.Val208Gly)
c.667T>G (n.667T>G)
c.42T>G (p.Cys14Trp)
c.998T>G (p.Val333Gly)
c.350T>G (p.Val117Gly)
3g.38925504A>GCA352173424SCN11Ac.623T>C (p.Val208Ala)
c.667T>C (n.667T>C)
c.42T>C (p.Cys14=)
c.998T>C (p.Val333Ala)
c.350T>C (p.Val117Ala)
3g.38925504A>TCA352173425SCN11Ac.623T>A (p.Val208Glu)
c.667T>A (n.667T>A)
c.42T>A (p.Cys14Ter)
c.998T>A (p.Val333Glu)
c.350T>A (p.Val117Glu)
3g.38925505C>ACA352173428SCN11Ac.622G>T (p.Val208Leu)
c.666G>T (n.666G>T)
c.41G>T (p.Cys14Phe)
c.997G>T (p.Val333Leu)
c.349G>T (p.Val117Leu)
3g.38925505C=CA1358731612SCN11Ac.622G= (p.Val208=)
c.666G= (n.666G=)
c.41G= (p.Cys14=)
c.997G= (p.Val333=)
c.349G= (p.Val117=)
3g.38925505C>GCA352173427SCN11Ac.622G>C (p.Val208Leu)
c.666G>C (n.666G>C)
c.41G>C (p.Cys14Ser)
c.997G>C (p.Val333Leu)
c.349G>C (p.Val117Leu)
3g.38925505C>TCA352173426SCN11Ac.622G>A (p.Val208Met)
c.666G>A (n.666G>A)
c.41G>A (p.Cys14Tyr)
c.997G>A (p.Val333Met)
c.349G>A (p.Val117Met)
 dbSNP gnomAD v3 gnomAD v4
3g.38925506A>CCA352173429SCN11Ac.621T>G (p.Ile207Met)
c.665T>G (n.665T>G)
c.40T>G (p.Cys14Gly)
c.996T>G (p.Ile332Met)
c.348T>G (p.Ile116Met)
3g.38925506A>GCA433142304SCN11Ac.621T>C (p.Ile207=)
c.665T>C (n.665T>C)
c.40T>C (p.Cys14Arg)
c.996T>C (p.Ile332=)
c.348T>C (p.Ile116=)
3g.38925506A>TCA433142306SCN11Ac.621T>A (p.Ile207=)
c.665T>A (n.665T>A)
c.40T>A (p.Cys14Ser)
c.996T>A (p.Ile332=)
c.348T>A (p.Ile116=)
 gnomAD v4
3g.38925507A=CA1358731613SCN11Ac.620T= (p.Ile207=)
c.664T= (n.664T=)
c.39T= (p.Asp13=)
c.995T= (p.Ile332=)
c.347T= (p.Ile116=)
3g.38925507A>CCA352173430SCN11Ac.620T>G (p.Ile207Ser)
c.664T>G (n.664T>G)
c.39T>G (p.Asp13Glu)
c.995T>G (p.Ile332Ser)
c.347T>G (p.Ile116Ser)
3g.38925507A>GCA2322559SCN11Ac.620T>C (p.Ile207Thr)
c.664T>C (n.664T>C)
c.39T>C (p.Asp13=)
c.995T>C (p.Ile332Thr)
c.347T>C (p.Ile116Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925507A>TCA352173431SCN11Ac.620T>A (p.Ile207Asn)
c.664T>A (n.664T>A)
c.39T>A (p.Asp13Glu)
c.995T>A (p.Ile332Asn)
c.347T>A (p.Ile116Asn)
3g.38925508T>ACA352173432SCN11Ac.619A>T (p.Ile207Phe)
c.663A>T (n.663A>T)
c.38A>T (p.Asp13Val)
c.994A>T (p.Ile332Phe)
c.346A>T (p.Ile116Phe)
3g.38925508T>CCA352173433SCN11Ac.619A>G (p.Ile207Val)
c.663A>G (n.663A>G)
c.38A>G (p.Asp13Gly)
c.994A>G (p.Ile332Val)
c.346A>G (p.Ile116Val)
3g.38925508T>GCA352173434SCN11Ac.619A>C (p.Ile207Leu)
c.663A>C (n.663A>C)
c.38A>C (p.Asp13Ala)
c.994A>C (p.Ile332Leu)
c.346A>C (p.Ile116Leu)
3g.38925509C>ACA433142307SCN11Ac.618G>T (p.Ala206=)
c.662G>T (n.662G>T)
c.37G>T (p.Asp13Tyr)
c.993G>T (p.Ala331=)
c.345G>T (p.Ala115=)
3g.38925509C>GCA433142308SCN11Ac.618G>C (p.Ala206=)
c.662G>C (n.662G>C)
c.37G>C (p.Asp13His)
c.993G>C (p.Ala331=)
c.345G>C (p.Ala115=)
3g.38925509C>TCA433142309SCN11Ac.618G>A (p.Ala206=)
c.662G>A (n.662G>A)
c.37G>A (p.Asp13Asn)
c.993G>A (p.Ala331=)
c.345G>A (p.Ala115=)
 COSMIC
3g.38925510C>ACA352173435SCN11Ac.618-1G>T (n.618-1G>T)
c.662-1G>T (n.662-1G>T)
c.37-1G>T (n.37-1G>T)
c.993-1G>T (n.993-1G>T)
c.345-1G>T (n.345-1G>T)
 COSMIC
3g.38925510C=CA1358731614SCN11Ac.618-1G= (n.618-1G=)
c.662-1G= (n.662-1G=)
c.37-1G= (n.37-1G=)
c.993-1G= (n.993-1G=)
c.345-1G= (n.345-1G=)
3g.38925510C>GCA352173436SCN11Ac.618-1G>C (n.618-1G>C)
c.662-1G>C (n.662-1G>C)
c.37-1G>C (n.37-1G>C)
c.993-1G>C (n.993-1G>C)
c.345-1G>C (n.345-1G>C)
3g.38925510C>TCA2322560SCN11Ac.618-1G>A (n.618-1G>A)
c.662-1G>A (n.662-1G>A)
c.37-1G>A (n.37-1G>A)
c.993-1G>A (n.993-1G>A)
c.345-1G>A (n.345-1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925511T>ACA352173437SCN11Ac.618-2A>T (n.618-2A>T)
c.662-2A>T (n.662-2A>T)
c.37-2A>T (n.37-2A>T)
c.993-2A>T (n.993-2A>T)
c.345-2A>T (n.345-2A>T)
3g.38925511T>CCA352173438SCN11Ac.618-2A>G (n.618-2A>G)
c.662-2A>G (n.662-2A>G)
c.37-2A>G (n.37-2A>G)
c.993-2A>G (n.993-2A>G)
c.345-2A>G (n.345-2A>G)
3g.38925511T>GCA352173439SCN11Ac.618-2A>C (n.618-2A>C)
c.662-2A>C (n.662-2A>C)
c.37-2A>C (n.37-2A>C)
c.993-2A>C (n.993-2A>C)
c.345-2A>C (n.345-2A>C)
3g.38925513C=CA1358731615SCN11Ac.618-4G= (n.618-4G=)
c.662-4G= (n.662-4G=)
c.37-4G= (n.37-4G=)
c.993-4G= (n.993-4G=)
c.345-4G= (n.345-4G=)
3g.38925513C>GCA72974360SCN11Ac.618-4G>C (n.618-4G>C)
c.662-4G>C (n.662-4G>C)
c.37-4G>C (n.37-4G>C)
c.993-4G>C (n.993-4G>C)
c.345-4G>C (n.345-4G>C)
 ClinVar dbSNP gnomAD v4
3g.38925513C>TCA2665132308SCN11Ac.618-4G>A (n.618-4G>A)
c.662-4G>A (n.662-4G>A)
c.37-4G>A (n.37-4G>A)
c.993-4G>A (n.993-4G>A)
c.345-4G>A (n.345-4G>A)
 gnomAD v4
3g.38925514A=CA1358731616SCN11Ac.618-5T= (n.618-5T=)
c.662-5T= (n.662-5T=)
c.37-5T= (n.37-5T=)
c.993-5T= (n.993-5T=)
c.345-5T= (n.345-5T=)
3g.38925514A>GCA1047027171SCN11Ac.618-5T>C (n.618-5T>C)
c.662-5T>C (n.662-5T>C)
c.37-5T>C (n.37-5T>C)
c.993-5T>C (n.993-5T>C)
c.345-5T>C (n.345-5T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38925516G>ACA542282200SCN11Ac.618-7C>T (n.618-7C>T)
c.662-7C>T (n.662-7C>T)
c.37-7C>T (n.37-7C>T)
c.993-7C>T (n.993-7C>T)
c.345-7C>T (n.345-7C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38925516G>CCA2665132309SCN11Ac.618-7C>G (n.618-7C>G)
c.662-7C>G (n.662-7C>G)
c.37-7C>G (n.37-7C>G)
c.993-7C>G (n.993-7C>G)
c.345-7C>G (n.345-7C>G)
 gnomAD v4
3g.38925516G=CA1358731617SCN11Ac.618-7C= (n.618-7C=)
c.662-7C= (n.662-7C=)
c.37-7C= (n.37-7C=)
c.993-7C= (n.993-7C=)
c.345-7C= (n.345-7C=)
3g.38925516G>TCA2665132310SCN11Ac.618-7C>A (n.618-7C>A)
c.662-7C>A (n.662-7C>A)
c.37-7C>A (n.37-7C>A)
c.993-7C>A (n.993-7C>A)
c.345-7C>A (n.345-7C>A)
 gnomAD v4
3g.38925517A=CA1358731618SCN11Ac.618-8T= (n.618-8T=)
c.662-8T= (n.662-8T=)
c.37-8T= (n.37-8T=)
c.993-8T= (n.993-8T=)
c.345-8T= (n.345-8T=)
3g.38925517A>GCA72974371SCN11Ac.618-8T>C (n.618-8T>C)
c.662-8T>C (n.662-8T>C)
c.37-8T>C (n.37-8T>C)
c.993-8T>C (n.993-8T>C)
c.345-8T>C (n.345-8T>C)
 dbSNP
3g.38925518C>ACA542282202SCN11Ac.618-9G>T (n.618-9G>T)
c.662-9G>T (n.662-9G>T)
c.37-9G>T (n.37-9G>T)
c.993-9G>T (n.993-9G>T)
c.345-9G>T (n.345-9G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38925518C=CA1358731619SCN11Ac.618-9G= (n.618-9G=)
c.662-9G= (n.662-9G=)
c.37-9G= (n.37-9G=)
c.993-9G= (n.993-9G=)
c.345-9G= (n.345-9G=)
3g.38925518C>GCA2577555156SCN11Ac.618-9G>C (n.618-9G>C)
c.662-9G>C (n.662-9G>C)
c.37-9G>C (n.37-9G>C)
c.993-9G>C (n.993-9G>C)
c.345-9G>C (n.345-9G>C)
3g.38925518C>TCA906865742SCN11Ac.618-9G>A (n.618-9G>A)
c.662-9G>A (n.662-9G>A)
c.37-9G>A (n.37-9G>A)
c.993-9G>A (n.993-9G>A)
c.345-9G>A (n.345-9G>A)
 dbSNP gnomAD v4
3g.38925522G>CCA433142310SCN11Ac.618-13C>G (n.618-13C>G)
c.662-13C>G (n.662-13C>G)
c.37-13C>G (n.37-13C>G)
c.993-13C>G (n.993-13C>G)
c.345-13C>G (n.345-13C>G)
 ClinVar
3g.38925522G>TCA2665132311SCN11Ac.618-13C>A (n.618-13C>A)
c.662-13C>A (n.662-13C>A)
c.37-13C>A (n.37-13C>A)
c.993-13C>A (n.993-13C>A)
c.345-13C>A (n.345-13C>A)
 gnomAD v4
3g.38925524A>CCA2577555157SCN11Ac.618-15T>G (n.618-15T>G)
c.662-15T>G (n.662-15T>G)
c.37-15T>G (n.37-15T>G)
c.993-15T>G (n.993-15T>G)
c.345-15T>G (n.345-15T>G)
 gnomAD v4
3g.38925525C>GCA2665132312SCN11Ac.618-16G>C (n.618-16G>C)
c.662-16G>C (n.662-16G>C)
c.37-16G>C (n.37-16G>C)
c.993-16G>C (n.993-16G>C)
c.345-16G>C (n.345-16G>C)
 gnomAD v4
3g.38925526A>CCA2665132314SCN11Ac.618-17T>G (n.618-17T>G)
c.662-17T>G (n.662-17T>G)
c.37-17T>G (n.37-17T>G)
c.993-17T>G (n.993-17T>G)
c.345-17T>G (n.345-17T>G)
 gnomAD v4
3g.38925526A>GCA2665132315SCN11Ac.618-17T>C (n.618-17T>C)
c.662-17T>C (n.662-17T>C)
c.37-17T>C (n.37-17T>C)
c.993-17T>C (n.993-17T>C)
c.345-17T>C (n.345-17T>C)
 gnomAD v4
3g.38925526_38925527insAACA2665132313SCN11Ac.618-17_618-16insTT (n.618-17_618-16insTT)
c.662-17_662-16insTT (n.662-17_662-16insTT)
c.37-17_37-16insTT (n.37-17_37-16insTT)
c.993-17_993-16insTT (n.993-17_993-16insTT)
c.345-17_345-16insTT (n.345-17_345-16insTT)
 gnomAD v4
3g.38925526_38925527insTGCCTTCCCTGTGCTTTCA2665132316SCN11Ac.618-18_618-17insAAAGCACAGGGAAGGCA (n.618-18_618-17insAAAGCACAGGGAAGGCA)
c.662-18_662-17insAAAGCACAGGGAAGGCA (n.662-18_662-17insAAAGCACAGGGAAGGCA)
c.37-18_37-17insAAAGCACAGGGAAGGCA (n.37-18_37-17insAAAGCACAGGGAAGGCA)
c.993-18_993-17insAAAGCACAGGGAAGGCA (n.993-18_993-17insAAAGCACAGGGAAGGCA)
c.345-18_345-17insAAAGCACAGGGAAGGCA (n.345-18_345-17insAAAGCACAGGGAAGGCA)
 gnomAD v4
3g.38925527G>TCA2665132317SCN11Ac.618-18C>A (n.618-18C>A)
c.662-18C>A (n.662-18C>A)
c.37-18C>A (n.37-18C>A)
c.993-18C>A (n.993-18C>A)
c.345-18C>A (n.345-18C>A)
 gnomAD v4
3g.38925528G>ACA542282204SCN11Ac.618-19C>T (n.618-19C>T)
c.662-19C>T (n.662-19C>T)
c.37-19C>T (n.37-19C>T)
c.993-19C>T (n.993-19C>T)
c.345-19C>T (n.345-19C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38925528G>CCA2665132318SCN11Ac.618-19C>G (n.618-19C>G)
c.662-19C>G (n.662-19C>G)
c.37-19C>G (n.37-19C>G)
c.993-19C>G (n.993-19C>G)
c.345-19C>G (n.345-19C>G)
 gnomAD v4
3g.38925528G=CA1358731620SCN11Ac.618-19C= (n.618-19C=)
c.662-19C= (n.662-19C=)
c.37-19C= (n.37-19C=)
c.993-19C= (n.993-19C=)
c.345-19C= (n.345-19C=)
3g.38925528G>TCA2577555158SCN11Ac.618-19C>A (n.618-19C>A)
c.662-19C>A (n.662-19C>A)
c.37-19C>A (n.37-19C>A)
c.993-19C>A (n.993-19C>A)
c.345-19C>A (n.345-19C>A)
3g.38925529G>TCA2665132319SCN11Ac.618-20C>A (n.618-20C>A)
c.662-20C>A (n.662-20C>A)
c.37-20C>A (n.37-20C>A)
c.993-20C>A (n.993-20C>A)
c.345-20C>A (n.345-20C>A)
 gnomAD v4
3g.38925530A>GCA2577555159SCN11Ac.618-21T>C (n.618-21T>C)
c.662-21T>C (n.662-21T>C)
c.37-21T>C (n.37-21T>C)
c.993-21T>C (n.993-21T>C)
c.345-21T>C (n.345-21T>C)
3g.38925532G>ACA2702420662SCN11Ac.618-23C>T (n.618-23C>T)
c.662-23C>T (n.662-23C>T)
c.37-23C>T (n.37-23C>T)
c.993-23C>T (n.993-23C>T)
c.345-23C>T (n.345-23C>T)
 dbSNP
3g.38925532G>TCA2577555160SCN11Ac.618-23C>A (n.618-23C>A)
c.662-23C>A (n.662-23C>A)
c.37-23C>A (n.37-23C>A)
c.993-23C>A (n.993-23C>A)
c.345-23C>A (n.345-23C>A)
 gnomAD v4
3g.38925533G>ACA2665132320SCN11Ac.618-24C>T (n.618-24C>T)
c.662-24C>T (n.662-24C>T)
c.37-24C>T (n.37-24C>T)
c.993-24C>T (n.993-24C>T)
c.345-24C>T (n.345-24C>T)
 gnomAD v4
3g.38925533G=CA1358731621SCN11Ac.618-24C= (n.618-24C=)
c.662-24C= (n.662-24C=)
c.37-24C= (n.37-24C=)
c.993-24C= (n.993-24C=)
c.345-24C= (n.345-24C=)
3g.38925533G>TCA72974379SCN11Ac.618-24C>A (n.618-24C>A)
c.662-24C>A (n.662-24C>A)
c.37-24C>A (n.37-24C>A)
c.993-24C>A (n.993-24C>A)
c.345-24C>A (n.345-24C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925536T>CCA1047027184SCN11Ac.618-27A>G (n.618-27A>G)
c.662-27A>G (n.662-27A>G)
c.37-27A>G (n.37-27A>G)
c.993-27A>G (n.993-27A>G)
c.345-27A>G (n.345-27A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38925536T=CA1358731622SCN11Ac.618-27A= (n.618-27A=)
c.662-27A= (n.662-27A=)
c.37-27A= (n.37-27A=)
c.993-27A= (n.993-27A=)
c.345-27A= (n.345-27A=)
3g.38925537G>ACA542282207SCN11Ac.618-28C>T (n.618-28C>T)
c.662-28C>T (n.662-28C>T)
c.37-28C>T (n.37-28C>T)
c.993-28C>T (n.993-28C>T)
c.345-28C>T (n.345-28C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38925537G=CA1358731623SCN11Ac.618-28C= (n.618-28C=)
c.662-28C= (n.662-28C=)
c.37-28C= (n.37-28C=)
c.993-28C= (n.993-28C=)
c.345-28C= (n.345-28C=)
3g.38925538G>ACA72974405SCN11Ac.618-29C>T (n.618-29C>T)
c.662-29C>T (n.662-29C>T)
c.37-29C>T (n.37-29C>T)
c.993-29C>T (n.993-29C>T)
c.345-29C>T (n.345-29C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925538G=CA1358731624SCN11Ac.618-29C= (n.618-29C=)
c.662-29C= (n.662-29C=)
c.37-29C= (n.37-29C=)
c.993-29C= (n.993-29C=)
c.345-29C= (n.345-29C=)
3g.38925539G>TCA2665132321SCN11Ac.618-30C>A (n.618-30C>A)
c.662-30C>A (n.662-30C>A)
c.37-30C>A (n.37-30C>A)
c.993-30C>A (n.993-30C>A)
c.345-30C>A (n.345-30C>A)
 gnomAD v4
3g.38925539_38925540insAAAGAGTATTCA2755914424SCN11Ac.618-31_618-30insAATACTCTTT (n.618-31_618-30insAATACTCTTT)
c.662-31_662-30insAATACTCTTT (n.662-31_662-30insAATACTCTTT)
c.37-31_37-30insAATACTCTTT (n.37-31_37-30insAATACTCTTT)
c.993-31_993-30insAATACTCTTT (n.993-31_993-30insAATACTCTTT)
c.345-31_345-30insAATACTCTTT (n.345-31_345-30insAATACTCTTT)
3g.38925540C>GCA2665132322SCN11Ac.618-31G>C (n.618-31G>C)
c.662-31G>C (n.662-31G>C)
c.37-31G>C (n.37-31G>C)
c.993-31G>C (n.993-31G>C)
c.345-31G>C (n.345-31G>C)
 gnomAD v4
3g.38925541T>ACA2665132323SCN11Ac.618-32A>T (n.618-32A>T)
c.662-32A>T (n.662-32A>T)
c.37-32A>T (n.37-32A>T)
c.993-32A>T (n.993-32A>T)
c.345-32A>T (n.345-32A>T)
 gnomAD v4
3g.38925541_38925542insGAGCACA2755914425SCN11Ac.618-33_618-32insTGCTC (n.618-33_618-32insTGCTC)
c.662-33_662-32insTGCTC (n.662-33_662-32insTGCTC)
c.37-33_37-32insTGCTC (n.37-33_37-32insTGCTC)
c.993-33_993-32insTGCTC (n.993-33_993-32insTGCTC)
c.345-33_345-32insTGCTC (n.345-33_345-32insTGCTC)
3g.38925543delCA2577555161SCN11Ac.618-34del (n.618-34del)
c.662-34del (n.662-34del)
c.37-34del (n.37-34del)
c.993-34del (n.993-34del)
c.345-34del (n.345-34del)
3g.38925543G>CCA1358731626SCN11Ac.618-34C>G (n.618-34C>G)
c.662-34C>G (n.662-34C>G)
c.37-34C>G (n.37-34C>G)
c.993-34C>G (n.993-34C>G)
c.345-34C>G (n.345-34C>G)
 dbSNP
3g.38925543G=CA1358731625SCN11Ac.618-34C= (n.618-34C=)
c.662-34C= (n.662-34C=)
c.37-34C= (n.37-34C=)
c.993-34C= (n.993-34C=)
c.345-34C= (n.345-34C=)
3g.38925543G>TCA2577555162SCN11Ac.618-34C>A (n.618-34C>A)
c.662-34C>A (n.662-34C>A)
c.37-34C>A (n.37-34C>A)
c.993-34C>A (n.993-34C>A)
c.345-34C>A (n.345-34C>A)
 gnomAD v4
3g.38925544C>ACA2665132324SCN11Ac.618-35G>T (n.618-35G>T)
c.662-35G>T (n.662-35G>T)
c.37-35G>T (n.37-35G>T)
c.993-35G>T (n.993-35G>T)
c.345-35G>T (n.345-35G>T)
 gnomAD v4
3g.38925544C>TCA2665132325SCN11Ac.618-35G>A (n.618-35G>A)
c.662-35G>A (n.662-35G>A)
c.37-35G>A (n.37-35G>A)
c.993-35G>A (n.993-35G>A)
c.345-35G>A (n.345-35G>A)
 gnomAD v4
3g.38925546C>ACA2665132326SCN11Ac.618-37G>T (n.618-37G>T)
c.662-37G>T (n.662-37G>T)
c.37-37G>T (n.37-37G>T)
c.993-37G>T (n.993-37G>T)
c.345-37G>T (n.345-37G>T)
 gnomAD v4
3g.38925546C>TCA2577555163SCN11Ac.618-37G>A (n.618-37G>A)
c.662-37G>A (n.662-37G>A)
c.37-37G>A (n.37-37G>A)
c.993-37G>A (n.993-37G>A)
c.345-37G>A (n.345-37G>A)
3g.38925547A=CA1358731627SCN11Ac.618-38T= (n.618-38T=)
c.662-38T= (n.662-38T=)
c.37-38T= (n.37-38T=)
c.993-38T= (n.993-38T=)
c.345-38T= (n.345-38T=)
3g.38925547A>GCA906865752SCN11Ac.618-38T>C (n.618-38T>C)
c.662-38T>C (n.662-38T>C)
c.37-38T>C (n.37-38T>C)
c.993-38T>C (n.993-38T>C)
c.345-38T>C (n.345-38T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.38925548G>CCA2665132327SCN11Ac.618-39C>G (n.618-39C>G)
c.662-39C>G (n.662-39C>G)
c.37-39C>G (n.37-39C>G)
c.993-39C>G (n.993-39C>G)
c.345-39C>G (n.345-39C>G)
 gnomAD v4
3g.38925548G>TCA2665132328SCN11Ac.618-39C>A (n.618-39C>A)
c.662-39C>A (n.662-39C>A)
c.37-39C>A (n.37-39C>A)
c.993-39C>A (n.993-39C>A)
c.345-39C>A (n.345-39C>A)
 gnomAD v4
3g.38925549T>CCA2322561SCN11Ac.618-40A>G (n.618-40A>G)
c.662-40A>G (n.662-40A>G)
c.37-40A>G (n.37-40A>G)
c.993-40A>G (n.993-40A>G)
c.345-40A>G (n.345-40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925549T=CA1358731628SCN11Ac.618-40A= (n.618-40A=)
c.662-40A= (n.662-40A=)
c.37-40A= (n.37-40A=)
c.993-40A= (n.993-40A=)
c.345-40A= (n.345-40A=)
3g.38925550C>ACA647485232SCN11Ac.618-41G>T (n.618-41G>T)
c.662-41G>T (n.662-41G>T)
c.37-41G>T (n.37-41G>T)
c.993-41G>T (n.993-41G>T)
c.345-41G>T (n.345-41G>T)
 gnomAD v4 COSMIC
3g.38925550C=CA1358731629SCN11Ac.618-41G= (n.618-41G=)
c.662-41G= (n.662-41G=)
c.37-41G= (n.37-41G=)
c.993-41G= (n.993-41G=)
c.345-41G= (n.345-41G=)
3g.38925550C>TCA1358731630SCN11Ac.618-41G>A (n.618-41G>A)
c.662-41G>A (n.662-41G>A)
c.37-41G>A (n.37-41G>A)
c.993-41G>A (n.993-41G>A)
c.345-41G>A (n.345-41G>A)
 dbSNP
3g.38925551C>ACA647485241SCN11Ac.618-42G>T (n.618-42G>T)
c.662-42G>T (n.662-42G>T)
c.37-42G>T (n.37-42G>T)
c.993-42G>T (n.993-42G>T)
c.345-42G>T (n.345-42G>T)
 COSMIC
3g.38925551C=CA1358731631SCN11Ac.618-42G= (n.618-42G=)
c.662-42G= (n.662-42G=)
c.37-42G= (n.37-42G=)
c.993-42G= (n.993-42G=)
c.345-42G= (n.345-42G=)
3g.38925551C>GCA2581866662SCN11Ac.618-42G>C (n.618-42G>C)
c.662-42G>C (n.662-42G>C)
c.37-42G>C (n.37-42G>C)
c.993-42G>C (n.993-42G>C)
c.345-42G>C (n.345-42G>C)
3g.38925551C>TCA2322562SCN11Ac.618-42G>A (n.618-42G>A)
c.662-42G>A (n.662-42G>A)
c.37-42G>A (n.37-42G>A)
c.993-42G>A (n.993-42G>A)
c.345-42G>A (n.345-42G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925552_38925556dupCA2665132329SCN11Ac.618-47_618-43dup (n.618-47_618-43dup)
c.662-47_662-43dup (n.662-47_662-43dup)
c.37-47_37-43dup (n.37-47_37-43dup)
c.993-47_993-43dup (n.993-47_993-43dup)
c.345-47_345-43dup (n.345-47_345-43dup)
 gnomAD v4
3g.38925554C>ACA906865755SCN11Ac.618-45G>T (n.618-45G>T)
c.662-45G>T (n.662-45G>T)
c.37-45G>T (n.37-45G>T)
c.993-45G>T (n.993-45G>T)
c.345-45G>T (n.345-45G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38925554C=CA1358731632SCN11Ac.618-45G= (n.618-45G=)
c.662-45G= (n.662-45G=)
c.37-45G= (n.37-45G=)
c.993-45G= (n.993-45G=)
c.345-45G= (n.345-45G=)
3g.38925554C>TCA2322563SCN11Ac.618-45G>A (n.618-45G>A)
c.662-45G>A (n.662-45G>A)
c.37-45G>A (n.37-45G>A)
c.993-45G>A (n.993-45G>A)
c.345-45G>A (n.345-45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925555A>TCA2665132330SCN11Ac.618-46T>A (n.618-46T>A)
c.662-46T>A (n.662-46T>A)
c.37-46T>A (n.37-46T>A)
c.993-46T>A (n.993-46T>A)
c.345-46T>A (n.345-46T>A)
 gnomAD v4
3g.38925556G>ACA2322564SCN11Ac.618-47C>T (n.618-47C>T)
c.662-47C>T (n.662-47C>T)
c.37-47C>T (n.37-47C>T)
c.993-47C>T (n.993-47C>T)
c.345-47C>T (n.345-47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925556G=CA1358731633SCN11Ac.618-47C= (n.618-47C=)
c.662-47C= (n.662-47C=)
c.37-47C= (n.37-47C=)
c.993-47C= (n.993-47C=)
c.345-47C= (n.345-47C=)
3g.38925556G>TCA542282213SCN11Ac.618-47C>A (n.618-47C>A)
c.662-47C>A (n.662-47C>A)
c.37-47C>A (n.37-47C>A)
c.993-47C>A (n.993-47C>A)
c.345-47C>A (n.345-47C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38925557delCA2665132331SCN11Ac.618-48del (n.618-48del)
c.662-48del (n.662-48del)
c.37-48del (n.37-48del)
c.993-48del (n.993-48del)
c.345-48del (n.345-48del)
 gnomAD v4
3g.38925557C>ACA2665132332SCN11Ac.618-48G>T (n.618-48G>T)
c.662-48G>T (n.662-48G>T)
c.37-48G>T (n.37-48G>T)
c.993-48G>T (n.993-48G>T)
c.345-48G>T (n.345-48G>T)
 gnomAD v4
3g.38925557C=CA1358731634SCN11Ac.618-48G= (n.618-48G=)
c.662-48G= (n.662-48G=)
c.37-48G= (n.37-48G=)
c.993-48G= (n.993-48G=)
c.345-48G= (n.345-48G=)
3g.38925557C>GCA2322565SCN11Ac.618-48G>C (n.618-48G>C)
c.662-48G>C (n.662-48G>C)
c.37-48G>C (n.37-48G>C)
c.993-48G>C (n.993-48G>C)
c.345-48G>C (n.345-48G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38925557C>TCA2665132333SCN11Ac.618-48G>A (n.618-48G>A)
c.662-48G>A (n.662-48G>A)
c.37-48G>A (n.37-48G>A)
c.993-48G>A (n.993-48G>A)
c.345-48G>A (n.345-48G>A)
 gnomAD v4
3g.38925558T>CCA2665132334SCN11Ac.618-49A>G (n.618-49A>G)
c.662-49A>G (n.662-49A>G)
c.37-49A>G (n.37-49A>G)
c.993-49A>G (n.993-49A>G)
c.345-49A>G (n.345-49A>G)
 gnomAD v4
3g.38925559G>ACA2665132335SCN11Ac.618-50C>T (n.618-50C>T)
c.662-50C>T (n.662-50C>T)
c.37-50C>T (n.37-50C>T)
c.993-50C>T (n.993-50C>T)
c.345-50C>T (n.345-50C>T)
 gnomAD v4
3g.38925559G>TCA2577555164SCN11Ac.618-50C>A (n.618-50C>A)
c.662-50C>A (n.662-50C>A)
c.37-50C>A (n.37-50C>A)
c.993-50C>A (n.993-50C>A)
c.345-50C>A (n.345-50C>A)
 gnomAD v4
3g.38925560C=CA1358731635SCN11Ac.618-51G= (n.618-51G=)
c.662-51G= (n.662-51G=)
c.37-51G= (n.37-51G=)
c.993-51G= (n.993-51G=)
c.345-51G= (n.345-51G=)
3g.38925560C>TCA2322566SCN11Ac.618-51G>A (n.618-51G>A)
c.662-51G>A (n.662-51G>A)
c.37-51G>A (n.37-51G>A)
c.993-51G>A (n.993-51G>A)
c.345-51G>A (n.345-51G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38925625_38925626insAGACAGCCTCACTGCACATCTCCACAAAAGCCACAAGTAAGCTCAGCCTGAGGCCTGTGACCTCCAAGGTGAAATCA2665132336SCN11Ac.618-51_618-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG (n.618-51_618-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG)
c.662-51_662-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG (n.662-51_662-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG)
c.37-51_37-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG (n.37-51_37-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG)
c.993-51_993-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG (n.993-51_993-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG)
c.345-51_345-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG (n.345-51_345-50insAGGCTGTCTATTTCACCTTGGAGGTCACAGGCCTCAGGCTGAGCTTACTTGTGGCTTTTGTGGAGATGTGCAGTG)
 gnomAD v4
3g.38925561A=CA1358731636SCN11Ac.618-52T= (n.618-52T=)
c.662-52T= (n.662-52T=)
c.37-52T= (n.37-52T=)
c.993-52T= (n.993-52T=)
c.345-52T= (n.345-52T=)
3g.38925561A>GCA2577555165SCN11Ac.618-52T>C (n.618-52T>C)
c.662-52T>C (n.662-52T>C)
c.37-52T>C (n.37-52T>C)
c.993-52T>C (n.993-52T>C)
c.345-52T>C (n.345-52T>C)
3g.38925561_38925562insGCA2665132337SCN11Ac.618-53_618-52insC (n.618-53_618-52insC)
c.662-53_662-52insC (n.662-53_662-52insC)
c.37-53_37-52insC (n.37-53_37-52insC)
c.993-53_993-52insC (n.993-53_993-52insC)
c.345-53_345-52insC (n.345-53_345-52insC)
 gnomAD v4
3g.38925562C>TCA2665132338SCN11Ac.618-53G>A (n.618-53G>A)
c.662-53G>A (n.662-53G>A)
c.37-53G>A (n.37-53G>A)
c.993-53G>A (n.993-53G>A)
c.345-53G>A (n.345-53G>A)
 gnomAD v4
3g.38925562dupCA2322567SCN11Ac.618-53dup (n.618-53dup)
c.662-53dup (n.662-53dup)
c.37-53dup (n.37-53dup)
c.993-53dup (n.993-53dup)
c.345-53dup (n.345-53dup)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched