Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.73418211G>ACA127941ALBc.1552G>A (p.Asp518Asn)
c.1207G>A (p.Asp403Asn)
c.976G>A (p.Asp326Asn)
c.*831G>A (n.*831G>A)
n.206G>A
c.1102G>A (p.Asp368Asn)
n.1099G>A
c.1085G>A
c.913G>A (p.Asp305Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73418211G>CCA357244727ALBc.1552G>C (p.Asp518His)
c.1207G>C (p.Asp403His)
c.976G>C (p.Asp326His)
c.*831G>C (n.*831G>C)
n.206G>C
c.1102G>C (p.Asp368His)
n.1099G>C
c.1085G>C
c.913G>C (p.Asp305His)
dbSNP
4g.73418211G=CA1468146909ALBc.1552G= (p.Asp518=)
c.1207G= (p.Asp403=)
c.976G= (p.Asp326=)
c.*831G= (n.*831G=)
n.206G=
c.1102G= (p.Asp368=)
n.1099G=
c.1085G=
c.913G= (p.Asp305=)
4g.73418211G>TCA357244730ALBc.1552G>T (p.Asp518Tyr)
c.1207G>T (p.Asp403Tyr)
c.976G>T (p.Asp326Tyr)
c.*831G>T (n.*831G>T)
n.206G>T
c.1102G>T (p.Asp368Tyr)
n.1099G>T
c.1085G>T
c.913G>T (p.Asp305Tyr)
4g.73418212A>CCA357244731ALBc.1553A>C (p.Asp518Ala)
c.1208A>C (p.Asp403Ala)
c.977A>C (p.Asp326Ala)
c.*832A>C (n.*832A>C)
n.207A>C
c.1103A>C (p.Asp368Ala)
n.1100A>C
c.1086A>C
c.914A>C (p.Asp305Ala)
4g.73418212A>GCA357244733ALBc.1553A>G (p.Asp518Gly)
c.1208A>G (p.Asp403Gly)
c.977A>G (p.Asp326Gly)
c.*832A>G (n.*832A>G)
n.207A>G
c.1103A>G (p.Asp368Gly)
n.1100A>G
c.1086A>G
c.914A>G (p.Asp305Gly)
4g.73418212A>TCA357244734ALBc.1553A>T (p.Asp518Val)
c.1208A>T (p.Asp403Val)
c.977A>T (p.Asp326Val)
c.*832A>T (n.*832A>T)
n.207A>T
c.1103A>T (p.Asp368Val)
n.1100A>T
c.1086A>T
c.914A>T (p.Asp305Val)
dbSNP
4g.73418213T>ACA357244736ALBc.1554T>A (p.Asp518Glu)
c.1209T>A (p.Asp403Glu)
c.978T>A (p.Asp326Glu)
c.*833T>A (n.*833T>A)
n.208T>A
c.1104T>A (p.Asp368Glu)
n.1101T>A
c.1087T>A
c.915T>A (p.Asp305Glu)
dbSNP
4g.73418213T>CCA439948390ALBc.1554T>C (p.Asp518=)
c.1209T>C (p.Asp403=)
c.978T>C (p.Asp326=)
c.*833T>C (n.*833T>C)
n.208T>C
c.1104T>C (p.Asp368=)
n.1101T>C
c.1087T>C
c.915T>C (p.Asp305=)
gnomAD v4 COSMIC
4g.73418213T>GCA357244738ALBc.1554T>G (p.Asp518Glu)
c.1209T>G (p.Asp403Glu)
c.978T>G (p.Asp326Glu)
c.*833T>G (n.*833T>G)
n.208T>G
c.1104T>G (p.Asp368Glu)
n.1101T>G
c.1087T>G
c.915T>G (p.Asp305Glu)
dbSNP
4g.73418214G>ACA357244742ALBc.1555G>A (p.Glu519Lys)
c.1210G>A (p.Glu404Lys)
c.979G>A (p.Glu327Lys)
c.*834G>A (n.*834G>A)
n.209G>A
c.1105G>A (p.Glu369Lys)
n.1102G>A
c.1088G>A
c.916G>A (p.Glu306Lys)
gnomAD v4
4g.73418214G>CCA357244744ALBc.1555G>C (p.Glu519Gln)
c.1210G>C (p.Glu404Gln)
c.979G>C (p.Glu327Gln)
c.*834G>C (n.*834G>C)
n.209G>C
c.1105G>C (p.Glu369Gln)
n.1102G>C
c.1088G>C
c.916G>C (p.Glu306Gln)
dbSNP
4g.73418214G>TCA357244746ALBc.1555G>T (p.Glu519Ter)
c.1210G>T (p.Glu404Ter)
c.979G>T (p.Glu327Ter)
c.*834G>T (n.*834G>T)
n.209G>T
c.1105G>T (p.Glu369Ter)
n.1102G>T
c.1088G>T
c.916G>T (p.Glu306Ter)
4g.73418215A>CCA357244755ALBc.1556A>C (p.Glu519Ala)
c.1211A>C (p.Glu404Ala)
c.980A>C (p.Glu327Ala)
c.*835A>C (n.*835A>C)
n.210A>C
c.1106A>C (p.Glu369Ala)
n.1103A>C
c.1089A>C
c.917A>C (p.Glu306Ala)
4g.73418215A>GCA357244750ALBc.1556A>G (p.Glu519Gly)
c.1211A>G (p.Glu404Gly)
c.980A>G (p.Glu327Gly)
c.*835A>G (n.*835A>G)
n.210A>G
c.1106A>G (p.Glu369Gly)
n.1103A>G
c.1089A>G
c.917A>G (p.Glu306Gly)
4g.73418215A>TCA357244752ALBc.1556A>T (p.Glu519Val)
c.1211A>T (p.Glu404Val)
c.980A>T (p.Glu327Val)
c.*835A>T (n.*835A>T)
n.210A>T
c.1106A>T (p.Glu369Val)
n.1103A>T
c.1089A>T
c.917A>T (p.Glu306Val)
dbSNP
4g.73418216A>CCA357244763ALBc.1557A>C (p.Glu519Asp)
c.1212A>C (p.Glu404Asp)
c.981A>C (p.Glu327Asp)
c.*836A>C (n.*836A>C)
n.211A>C
c.1107A>C (p.Glu369Asp)
n.1104A>C
c.1090A>C
c.918A>C (p.Glu306Asp)
4g.73418216A>GCA439948391ALBc.1557A>G (p.Glu519=)
c.1212A>G (p.Glu404=)
c.981A>G (p.Glu327=)
c.*836A>G (n.*836A>G)
n.211A>G
c.1107A>G (p.Glu369=)
n.1104A>G
c.1090A>G
c.918A>G (p.Glu306=)
4g.73418216A>TCA357244765ALBc.1557A>T (p.Glu519Asp)
c.1212A>T (p.Glu404Asp)
c.981A>T (p.Glu327Asp)
c.*836A>T (n.*836A>T)
n.211A>T
c.1107A>T (p.Glu369Asp)
n.1104A>T
c.1090A>T
c.918A>T (p.Glu306Asp)
4g.73418217A=CA1468146912ALBc.1558A= (p.Thr520=)
c.1213A= (p.Thr405=)
c.982A= (p.Thr328=)
c.*837A= (n.*837A=)
n.212A=
c.1108A= (p.Thr370=)
n.1105A=
c.1091A=
c.919A= (p.Thr307=)
4g.73418217A>CCA357244768ALBc.1558A>C (p.Thr520Pro)
c.1213A>C (p.Thr405Pro)
c.982A>C (p.Thr328Pro)
c.*837A>C (n.*837A>C)
n.212A>C
c.1108A>C (p.Thr370Pro)
n.1105A>C
c.1091A>C
c.919A>C (p.Thr307Pro)
4g.73418217A>GCA2959686ALBc.1558A>G (p.Thr520Ala)
c.1213A>G (p.Thr405Ala)
c.982A>G (p.Thr328Ala)
c.*837A>G (n.*837A>G)
n.212A>G
c.1108A>G (p.Thr370Ala)
n.1105A>G
c.1091A>G
c.919A>G (p.Thr307Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73418217A>TCA357244770ALBc.1558A>T (p.Thr520Ser)
c.1213A>T (p.Thr405Ser)
c.982A>T (p.Thr328Ser)
c.*837A>T (n.*837A>T)
n.212A>T
c.1108A>T (p.Thr370Ser)
n.1105A>T
c.1091A>T
c.919A>T (p.Thr307Ser)
dbSNP
4g.73418218C>ACA357244776ALBc.1559C>A (p.Thr520Lys)
c.1214C>A (p.Thr405Lys)
c.983C>A (p.Thr328Lys)
c.*838C>A (n.*838C>A)
n.213C>A
c.1109C>A (p.Thr370Lys)
n.1106C>A
c.1092C>A
c.920C>A (p.Thr307Lys)
dbSNP gnomAD v3 gnomAD v4
4g.73418218C=CA1468146914ALBc.1559C= (p.Thr520=)
c.1214C= (p.Thr405=)
c.983C= (p.Thr328=)
c.*838C= (n.*838C=)
n.213C=
c.1109C= (p.Thr370=)
n.1106C=
c.1092C=
c.920C= (p.Thr307=)
4g.73418218C>GCA357244779ALBc.1559C>G (p.Thr520Arg)
c.1214C>G (p.Thr405Arg)
c.983C>G (p.Thr328Arg)
c.*838C>G (n.*838C>G)
n.213C>G
c.1109C>G (p.Thr370Arg)
n.1106C>G
c.1092C>G
c.920C>G (p.Thr307Arg)
dbSNP
4g.73418218C>TCA357244781ALBc.1559C>T (p.Thr520Ile)
c.1214C>T (p.Thr405Ile)
c.983C>T (p.Thr328Ile)
c.*838C>T (n.*838C>T)
n.213C>T
c.1109C>T (p.Thr370Ile)
n.1106C>T
c.1092C>T
c.920C>T (p.Thr307Ile)
dbSNP
4g.73418219A>CCA439948392ALBc.1560A>C (p.Thr520=)
c.1215A>C (p.Thr405=)
c.984A>C (p.Thr328=)
c.*839A>C (n.*839A>C)
n.214A>C
c.1110A>C (p.Thr370=)
n.1107A>C
c.1093A>C
c.921A>C (p.Thr307=)
4g.73418219A>GCA439948393ALBc.1560A>G (p.Thr520=)
c.1215A>G (p.Thr405=)
c.984A>G (p.Thr328=)
c.*839A>G (n.*839A>G)
n.214A>G
c.1110A>G (p.Thr370=)
n.1107A>G
c.1093A>G
c.921A>G (p.Thr307=)
gnomAD v4
4g.73418219A>TCA439948394ALBc.1560A>T (p.Thr520=)
c.1215A>T (p.Thr405=)
c.984A>T (p.Thr328=)
c.*839A>T (n.*839A>T)
n.214A>T
c.1110A>T (p.Thr370=)
n.1107A>T
c.1093A>T
c.921A>T (p.Thr307=)
dbSNP
4g.73418220T>ACA357244783ALBc.1561T>A (p.Tyr521Asn)
c.1216T>A (p.Tyr406Asn)
c.985T>A (p.Tyr329Asn)
c.*840T>A (n.*840T>A)
n.215T>A
c.1111T>A (p.Tyr371Asn)
n.1108T>A
c.1094T>A
c.922T>A (p.Tyr308Asn)
4g.73418220T>CCA357244785ALBc.1561T>C (p.Tyr521His)
c.1216T>C (p.Tyr406His)
c.985T>C (p.Tyr329His)
c.*840T>C (n.*840T>C)
n.215T>C
c.1111T>C (p.Tyr371His)
n.1108T>C
c.1094T>C
c.922T>C (p.Tyr308His)
gnomAD v4
4g.73418220T>GCA357244788ALBc.1561T>G (p.Tyr521Asp)
c.1216T>G (p.Tyr406Asp)
c.985T>G (p.Tyr329Asp)
c.*840T>G (n.*840T>G)
n.215T>G
c.1111T>G (p.Tyr371Asp)
n.1108T>G
c.1094T>G
c.922T>G (p.Tyr308Asp)
4g.73418221A>CCA357244793ALBc.1562A>C (p.Tyr521Ser)
c.1217A>C (p.Tyr406Ser)
c.986A>C (p.Tyr329Ser)
c.*841A>C (n.*841A>C)
n.216A>C
c.1112A>C (p.Tyr371Ser)
n.1109A>C
c.1095A>C
c.923A>C (p.Tyr308Ser)
4g.73418221A>GCA357244796ALBc.1562A>G (p.Tyr521Cys)
c.1217A>G (p.Tyr406Cys)
c.986A>G (p.Tyr329Cys)
c.*841A>G (n.*841A>G)
n.216A>G
c.1112A>G (p.Tyr371Cys)
n.1109A>G
c.1095A>G
c.923A>G (p.Tyr308Cys)
4g.73418221A>TCA357244790ALBc.1562A>T (p.Tyr521Phe)
c.1217A>T (p.Tyr406Phe)
c.986A>T (p.Tyr329Phe)
c.*841A>T (n.*841A>T)
n.216A>T
c.1112A>T (p.Tyr371Phe)
n.1109A>T
c.1095A>T
c.923A>T (p.Tyr308Phe)
dbSNP
4g.73418222_73418230delCA2706482528ALBc.1563_1571del (p.Tyr521Ter)
c.1218_1226del (p.Tyr406Ter)
c.987_995del (p.Tyr329Ter)
c.*842_*850del (n.*842_*850del)
n.217_225del
c.1113_1121del (p.Tyr371Ter)
n.1110_1118del
c.1096_1104del
c.924_932del (p.Tyr308Ter)
dbSNP
4g.73418222C>ACA357244800ALBc.1563C>A (p.Tyr521Ter)
c.1218C>A (p.Tyr406Ter)
c.987C>A (p.Tyr329Ter)
c.*842C>A (n.*842C>A)
n.217C>A
c.1113C>A (p.Tyr371Ter)
n.1110C>A
c.1096C>A
c.924C>A (p.Tyr308Ter)
4g.73418222C=CA1468146917ALBc.1563C= (p.Tyr521=)
c.1218C= (p.Tyr406=)
c.987C= (p.Tyr329=)
c.*842C= (n.*842C=)
n.217C=
c.1113C= (p.Tyr371=)
n.1110C=
c.1096C=
c.924C= (p.Tyr308=)
4g.73418222C>GCA357244803ALBc.1563C>G (p.Tyr521Ter)
c.1218C>G (p.Tyr406Ter)
c.987C>G (p.Tyr329Ter)
c.*842C>G (n.*842C>G)
n.217C>G
c.1113C>G (p.Tyr371Ter)
n.1110C>G
c.1096C>G
c.924C>G (p.Tyr308Ter)
dbSNP
4g.73418222C>TCA2959687ALBc.1563C>T (p.Tyr521=)
c.1218C>T (p.Tyr406=)
c.987C>T (p.Tyr329=)
c.*842C>T (n.*842C>T)
n.217C>T
c.1113C>T (p.Tyr371=)
n.1110C>T
c.1096C>T
c.924C>T (p.Tyr308=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73418223G>ACA2959688ALBc.1564G>A (p.Val522Ile)
c.1219G>A (p.Val407Ile)
c.988G>A (p.Val330Ile)
c.*843G>A (n.*843G>A)
n.218G>A
c.1114G>A (p.Val372Ile)
n.1111G>A
c.1097G>A
c.925G>A (p.Val309Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.73418223G>CCA357244821ALBc.1564G>C (p.Val522Leu)
c.1219G>C (p.Val407Leu)
c.988G>C (p.Val330Leu)
c.*843G>C (n.*843G>C)
n.218G>C
c.1114G>C (p.Val372Leu)
n.1111G>C
c.1097G>C
c.925G>C (p.Val309Leu)
dbSNP
4g.73418223G=CA1468146918ALBc.1564G= (p.Val522=)
c.1219G= (p.Val407=)
c.988G= (p.Val330=)
c.*843G= (n.*843G=)
n.218G=
c.1114G= (p.Val372=)
n.1111G=
c.1097G=
c.925G= (p.Val309=)
4g.73418223G>TCA357244825ALBc.1564G>T (p.Val522Phe)
c.1219G>T (p.Val407Phe)
c.988G>T (p.Val330Phe)
c.*843G>T (n.*843G>T)
n.218G>T
c.1114G>T (p.Val372Phe)
n.1111G>T
c.1097G>T
c.925G>T (p.Val309Phe)
4g.73418224T>ACA357244828ALBc.1565T>A (p.Val522Asp)
c.1220T>A (p.Val407Asp)
c.989T>A (p.Val330Asp)
c.*844T>A (n.*844T>A)
n.219T>A
c.1115T>A (p.Val372Asp)
n.1112T>A
c.1098T>A
c.926T>A (p.Val309Asp)
dbSNP
4g.73418224T>CCA357244831ALBc.1565T>C (p.Val522Ala)
c.1220T>C (p.Val407Ala)
c.989T>C (p.Val330Ala)
c.*844T>C (n.*844T>C)
n.219T>C
c.1115T>C (p.Val372Ala)
n.1112T>C
c.1098T>C
c.926T>C (p.Val309Ala)
4g.73418224T>GCA357244834ALBc.1565T>G (p.Val522Gly)
c.1220T>G (p.Val407Gly)
c.989T>G (p.Val330Gly)
c.*844T>G (n.*844T>G)
n.219T>G
c.1115T>G (p.Val372Gly)
n.1112T>G
c.1098T>G
c.926T>G (p.Val309Gly)
4g.73418225T>ACA439948395ALBc.1566T>A (p.Val522=)
c.1221T>A (p.Val407=)
c.990T>A (p.Val330=)
c.*845T>A (n.*845T>A)
n.220T>A
c.1116T>A (p.Val372=)
n.1113T>A
c.1099T>A
c.927T>A (p.Val309=)
4g.73418225T>CCA439948396ALBc.1566T>C (p.Val522=)
c.1221T>C (p.Val407=)
c.990T>C (p.Val330=)
c.*845T>C (n.*845T>C)
n.220T>C
c.1116T>C (p.Val372=)
n.1113T>C
c.1099T>C
c.927T>C (p.Val309=)
dbSNP

Number of alleles fetched