Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53255836G>ACA516674362IQSEC2c.1122C>T (p.Asp374=)
c.252C>T (p.Asp84=)
c.963C>T (p.Asp321=)
c.933C>T (p.Asp311=)
c.348C>T (p.Asp116=)
c.1059C>T (p.Asp353=)
c.285C>T (p.Asp95=)
n.1286C>T
c.465C>T (p.Asp155=)
n.1280C>T
Xg.53255836G>CCA413171164IQSEC2c.1122C>G (p.Asp374Glu)
c.252C>G (p.Asp84Glu)
c.963C>G (p.Asp321Glu)
c.933C>G (p.Asp311Glu)
c.348C>G (p.Asp116Glu)
c.1059C>G (p.Asp353Glu)
c.285C>G (p.Asp95Glu)
n.1286C>G
c.465C>G (p.Asp155Glu)
n.1280C>G
Xg.53255836G>TCA413171166IQSEC2c.1122C>A (p.Asp374Glu)
c.252C>A (p.Asp84Glu)
c.963C>A (p.Asp321Glu)
c.933C>A (p.Asp311Glu)
c.348C>A (p.Asp116Glu)
c.1059C>A (p.Asp353Glu)
c.285C>A (p.Asp95Glu)
n.1286C>A
c.465C>A (p.Asp155Glu)
n.1280C>A
Xg.53255837T>ACA413171174IQSEC2c.1121A>T (p.Asp374Val)
c.251A>T (p.Asp84Val)
c.962A>T (p.Asp321Val)
c.932A>T (p.Asp311Val)
c.347A>T (p.Asp116Val)
c.1058A>T (p.Asp353Val)
c.284A>T (p.Asp95Val)
n.1285A>T
c.464A>T (p.Asp155Val)
n.1279A>T
Xg.53255837T>CCA413171177IQSEC2c.1121A>G (p.Asp374Gly)
c.251A>G (p.Asp84Gly)
c.962A>G (p.Asp321Gly)
c.932A>G (p.Asp311Gly)
c.347A>G (p.Asp116Gly)
c.1058A>G (p.Asp353Gly)
c.284A>G (p.Asp95Gly)
n.1285A>G
c.464A>G (p.Asp155Gly)
n.1279A>G
Xg.53255837T>GCA413171171IQSEC2c.1121A>C (p.Asp374Ala)
c.251A>C (p.Asp84Ala)
c.962A>C (p.Asp321Ala)
c.932A>C (p.Asp311Ala)
c.347A>C (p.Asp116Ala)
c.1058A>C (p.Asp353Ala)
c.284A>C (p.Asp95Ala)
n.1285A>C
c.464A>C (p.Asp155Ala)
n.1279A>C
Xg.53255838C>ACA413171180IQSEC2c.1120G>T (p.Asp374Tyr)
c.250G>T (p.Asp84Tyr)
c.961G>T (p.Asp321Tyr)
c.931G>T (p.Asp311Tyr)
c.346G>T (p.Asp116Tyr)
c.1057G>T (p.Asp353Tyr)
c.283G>T (p.Asp95Tyr)
n.1284G>T
c.463G>T (p.Asp155Tyr)
n.1278G>T
Xg.53255838C>GCA413171183IQSEC2c.1120G>C (p.Asp374His)
c.250G>C (p.Asp84His)
c.961G>C (p.Asp321His)
c.931G>C (p.Asp311His)
c.346G>C (p.Asp116His)
c.1057G>C (p.Asp353His)
c.283G>C (p.Asp95His)
n.1284G>C
c.463G>C (p.Asp155His)
n.1278G>C
Xg.53255838C>TCA413171185IQSEC2c.1120G>A (p.Asp374Asn)
c.250G>A (p.Asp84Asn)
c.961G>A (p.Asp321Asn)
c.931G>A (p.Asp311Asn)
c.346G>A (p.Asp116Asn)
c.1057G>A (p.Asp353Asn)
c.283G>A (p.Asp95Asn)
n.1284G>A
c.463G>A (p.Asp155Asn)
n.1278G>A
Xg.53255839C>ACA516674365IQSEC2c.1119G>T (p.Ser373=)
c.249G>T (p.Ser83=)
c.960G>T (p.Ser320=)
c.930G>T (p.Ser310=)
c.345G>T (p.Ser115=)
c.1056G>T (p.Ser352=)
c.282G>T (p.Ser94=)
n.1283G>T
c.462G>T (p.Ser154=)
n.1277G>T
Xg.53255839C=CA2429777173IQSEC2c.1119G= (p.Ser373=)
c.249G= (p.Ser83=)
c.960G= (p.Ser320=)
c.930G= (p.Ser310=)
c.345G= (p.Ser115=)
c.1056G= (p.Ser352=)
c.282G= (p.Ser94=)
n.1283G=
c.462G= (p.Ser154=)
n.1277G=
Xg.53255839C>GCA516674366IQSEC2c.1119G>C (p.Ser373=)
c.249G>C (p.Ser83=)
c.960G>C (p.Ser320=)
c.930G>C (p.Ser310=)
c.345G>C (p.Ser115=)
c.1056G>C (p.Ser352=)
c.282G>C (p.Ser94=)
n.1283G>C
c.462G>C (p.Ser154=)
n.1277G>C
 ClinVar dbSNP
Xg.53255839C>TCA10420123IQSEC2c.1119G>A (p.Ser373=)
c.249G>A (p.Ser83=)
c.960G>A (p.Ser320=)
c.930G>A (p.Ser310=)
c.345G>A (p.Ser115=)
c.1056G>A (p.Ser352=)
c.282G>A (p.Ser94=)
n.1283G>A
c.462G>A (p.Ser154=)
n.1277G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53255840G>ACA413171196IQSEC2c.1118C>T (p.Ser373Leu)
c.248C>T (p.Ser83Leu)
c.959C>T (p.Ser320Leu)
c.929C>T (p.Ser310Leu)
c.344C>T (p.Ser115Leu)
c.1055C>T (p.Ser352Leu)
c.281C>T (p.Ser94Leu)
n.1282C>T
c.461C>T (p.Ser154Leu)
n.1276C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53255840G>CCA413171193IQSEC2c.1118C>G (p.Ser373Trp)
c.248C>G (p.Ser83Trp)
c.959C>G (p.Ser320Trp)
c.929C>G (p.Ser310Trp)
c.344C>G (p.Ser115Trp)
c.1055C>G (p.Ser352Trp)
c.281C>G (p.Ser94Trp)
n.1282C>G
c.461C>G (p.Ser154Trp)
n.1276C>G
Xg.53255840G=CA2429777174IQSEC2c.1118C= (p.Ser373=)
c.248C= (p.Ser83=)
c.959C= (p.Ser320=)
c.929C= (p.Ser310=)
c.344C= (p.Ser115=)
c.1055C= (p.Ser352=)
c.281C= (p.Ser94=)
n.1282C=
c.461C= (p.Ser154=)
n.1276C=
Xg.53255840G>TCA413171189IQSEC2c.1118C>A (p.Ser373Ter)
c.248C>A (p.Ser83Ter)
c.959C>A (p.Ser320Ter)
c.929C>A (p.Ser310Ter)
c.344C>A (p.Ser115Ter)
c.1055C>A (p.Ser352Ter)
c.281C>A (p.Ser94Ter)
n.1282C>A
c.461C>A (p.Ser154Ter)
n.1276C>A
Xg.53255841A>CCA413171199IQSEC2c.1117T>G (p.Ser373Ala)
c.247T>G (p.Ser83Ala)
c.958T>G (p.Ser320Ala)
c.928T>G (p.Ser310Ala)
c.343T>G (p.Ser115Ala)
c.1054T>G (p.Ser352Ala)
c.280T>G (p.Ser94Ala)
n.1281T>G
c.460T>G (p.Ser154Ala)
n.1275T>G
Xg.53255841A>GCA413171201IQSEC2c.1117T>C (p.Ser373Pro)
c.247T>C (p.Ser83Pro)
c.958T>C (p.Ser320Pro)
c.928T>C (p.Ser310Pro)
c.343T>C (p.Ser115Pro)
c.1054T>C (p.Ser352Pro)
c.280T>C (p.Ser94Pro)
n.1281T>C
c.460T>C (p.Ser154Pro)
n.1275T>C
Xg.53255841A>TCA413171203IQSEC2c.1117T>A (p.Ser373Thr)
c.247T>A (p.Ser83Thr)
c.958T>A (p.Ser320Thr)
c.928T>A (p.Ser310Thr)
c.343T>A (p.Ser115Thr)
c.1054T>A (p.Ser352Thr)
c.280T>A (p.Ser94Thr)
n.1281T>A
c.460T>A (p.Ser154Thr)
n.1275T>A
Xg.53255842T>ACA516674370IQSEC2c.1116A>T (p.Leu372=)
c.246A>T (p.Leu82=)
c.957A>T (p.Leu319=)
c.927A>T (p.Leu309=)
c.342A>T (p.Leu114=)
c.1053A>T (p.Leu351=)
c.279A>T (p.Leu93=)
n.1280A>T
c.459A>T (p.Leu153=)
n.1274A>T
Xg.53255842T>CCA10420124IQSEC2c.1116A>G (p.Leu372=)
c.246A>G (p.Leu82=)
c.957A>G (p.Leu319=)
c.927A>G (p.Leu309=)
c.342A>G (p.Leu114=)
c.1053A>G (p.Leu351=)
c.279A>G (p.Leu93=)
n.1280A>G
c.459A>G (p.Leu153=)
n.1274A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53255842T>GCA516674371IQSEC2c.1116A>C (p.Leu372=)
c.246A>C (p.Leu82=)
c.957A>C (p.Leu319=)
c.927A>C (p.Leu309=)
c.342A>C (p.Leu114=)
c.1053A>C (p.Leu351=)
c.279A>C (p.Leu93=)
n.1280A>C
c.459A>C (p.Leu153=)
n.1274A>C
Xg.53255842T=CA2429777175IQSEC2c.1116A= (p.Leu372=)
c.246A= (p.Leu82=)
c.957A= (p.Leu319=)
c.927A= (p.Leu309=)
c.342A= (p.Leu114=)
c.1053A= (p.Leu351=)
c.279A= (p.Leu93=)
n.1280A=
c.459A= (p.Leu153=)
n.1274A=
Xg.53255842_53255843delinsTACA2429777176IQSEC2c.1115_1116delinsTA (p.Leu372=)
c.245_246delinsTA (p.Leu82=)
c.956_957delinsTA (p.Leu319=)
c.926_927delinsTA (p.Leu309=)
c.341_342delinsTA (p.Leu114=)
c.1052_1053delinsTA (p.Leu351=)
c.278_279delinsTA (p.Leu93=)
n.1279_1280delinsTA
c.458_459delinsTA (p.Leu153=)
n.1273_1274delinsTA
Xg.53255843delCA1139667575IQSEC2c.1115del (p.Leu372HisfsTer28)
c.245del (p.Leu82HisfsTer28)
c.956del (p.Leu319HisfsTer28)
c.926del (p.Leu309HisfsTer28)
c.341del (p.Leu114HisfsTer28)
c.1052del (p.Leu351HisfsTer28)
c.278del (p.Leu93HisfsTer28)
n.1279del
c.458del (p.Leu153HisfsTer28)
n.1273del
 ClinVar dbSNP
Xg.53255843A>CCA413171206IQSEC2c.1115T>G (p.Leu372Arg)
c.245T>G (p.Leu82Arg)
c.956T>G (p.Leu319Arg)
c.926T>G (p.Leu309Arg)
c.341T>G (p.Leu114Arg)
c.1052T>G (p.Leu351Arg)
c.278T>G (p.Leu93Arg)
n.1279T>G
c.458T>G (p.Leu153Arg)
n.1273T>G
Xg.53255843A>GCA413171207IQSEC2c.1115T>C (p.Leu372Pro)
c.245T>C (p.Leu82Pro)
c.956T>C (p.Leu319Pro)
c.926T>C (p.Leu309Pro)
c.341T>C (p.Leu114Pro)
c.1052T>C (p.Leu351Pro)
c.278T>C (p.Leu93Pro)
n.1279T>C
c.458T>C (p.Leu153Pro)
n.1273T>C
Xg.53255843A>TCA413171209IQSEC2c.1115T>A (p.Leu372Gln)
c.245T>A (p.Leu82Gln)
c.956T>A (p.Leu319Gln)
c.926T>A (p.Leu309Gln)
c.341T>A (p.Leu114Gln)
c.1052T>A (p.Leu351Gln)
c.278T>A (p.Leu93Gln)
n.1279T>A
c.458T>A (p.Leu153Gln)
n.1273T>A
Xg.53255844G>ACA516674372IQSEC2c.1114C>T (p.Leu372=)
c.244C>T (p.Leu82=)
c.955C>T (p.Leu319=)
c.925C>T (p.Leu309=)
c.340C>T (p.Leu114=)
c.1051C>T (p.Leu351=)
c.277C>T (p.Leu93=)
n.1278C>T
c.457C>T (p.Leu153=)
n.1272C>T
 gnomAD v4
Xg.53255844G>CCA413171216IQSEC2c.1114C>G (p.Leu372Val)
c.244C>G (p.Leu82Val)
c.955C>G (p.Leu319Val)
c.925C>G (p.Leu309Val)
c.340C>G (p.Leu114Val)
c.1051C>G (p.Leu351Val)
c.277C>G (p.Leu93Val)
n.1278C>G
c.457C>G (p.Leu153Val)
n.1272C>G
Xg.53255844G>TCA413171213IQSEC2c.1114C>A (p.Leu372Ile)
c.244C>A (p.Leu82Ile)
c.955C>A (p.Leu319Ile)
c.925C>A (p.Leu309Ile)
c.340C>A (p.Leu114Ile)
c.1051C>A (p.Leu351Ile)
c.277C>A (p.Leu93Ile)
n.1278C>A
c.457C>A (p.Leu153Ile)
n.1272C>A
Xg.53255845G>ACA516674373IQSEC2c.1113C>T (p.Ala371=)
c.243C>T (p.Ala81=)
c.954C>T (p.Ala318=)
c.924C>T (p.Ala308=)
c.339C>T (p.Ala113=)
c.1050C>T (p.Ala350=)
c.276C>T (p.Ala92=)
n.1277C>T
c.456C>T (p.Ala152=)
n.1271C>T
Xg.53255845G>CCA516674374IQSEC2c.1113C>G (p.Ala371=)
c.243C>G (p.Ala81=)
c.954C>G (p.Ala318=)
c.924C>G (p.Ala308=)
c.339C>G (p.Ala113=)
c.1050C>G (p.Ala350=)
c.276C>G (p.Ala92=)
n.1277C>G
c.456C>G (p.Ala152=)
n.1271C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53255845G=CA2429777177IQSEC2c.1113C= (p.Ala371=)
c.243C= (p.Ala81=)
c.954C= (p.Ala318=)
c.924C= (p.Ala308=)
c.339C= (p.Ala113=)
c.1050C= (p.Ala350=)
c.276C= (p.Ala92=)
n.1277C=
c.456C= (p.Ala152=)
n.1271C=
Xg.53255845G>TCA516674376IQSEC2c.1113C>A (p.Ala371=)
c.243C>A (p.Ala81=)
c.954C>A (p.Ala318=)
c.924C>A (p.Ala308=)
c.339C>A (p.Ala113=)
c.1050C>A (p.Ala350=)
c.276C>A (p.Ala92=)
n.1277C>A
c.456C>A (p.Ala152=)
n.1271C>A
Xg.53255846G>ACA413171221IQSEC2c.1112C>T (p.Ala371Val)
c.242C>T (p.Ala81Val)
c.953C>T (p.Ala318Val)
c.923C>T (p.Ala308Val)
c.338C>T (p.Ala113Val)
c.1049C>T (p.Ala350Val)
c.275C>T (p.Ala92Val)
n.1276C>T
c.455C>T (p.Ala152Val)
n.1270C>T
Xg.53255846G>CCA413171226IQSEC2c.1112C>G (p.Ala371Gly)
c.242C>G (p.Ala81Gly)
c.953C>G (p.Ala318Gly)
c.923C>G (p.Ala308Gly)
c.338C>G (p.Ala113Gly)
c.1049C>G (p.Ala350Gly)
c.275C>G (p.Ala92Gly)
n.1276C>G
c.455C>G (p.Ala152Gly)
n.1270C>G
Xg.53255846G>TCA413171223IQSEC2c.1112C>A (p.Ala371Asp)
c.242C>A (p.Ala81Asp)
c.953C>A (p.Ala318Asp)
c.923C>A (p.Ala308Asp)
c.338C>A (p.Ala113Asp)
c.1049C>A (p.Ala350Asp)
c.275C>A (p.Ala92Asp)
n.1276C>A
c.455C>A (p.Ala152Asp)
n.1270C>A
Xg.53255847C>ACA413171228IQSEC2c.1111G>T (p.Ala371Ser)
c.241G>T (p.Ala81Ser)
c.952G>T (p.Ala318Ser)
c.922G>T (p.Ala308Ser)
c.337G>T (p.Ala113Ser)
c.1048G>T (p.Ala350Ser)
c.274G>T (p.Ala92Ser)
n.1275G>T
c.454G>T (p.Ala152Ser)
n.1269G>T
 ClinVar
Xg.53255847C=CA2429777178IQSEC2c.1111G= (p.Ala371=)
c.241G= (p.Ala81=)
c.952G= (p.Ala318=)
c.922G= (p.Ala308=)
c.337G= (p.Ala113=)
c.1048G= (p.Ala350=)
c.274G= (p.Ala92=)
n.1275G=
c.454G= (p.Ala152=)
n.1269G=
Xg.53255847C>GCA413171231IQSEC2c.1111G>C (p.Ala371Pro)
c.241G>C (p.Ala81Pro)
c.952G>C (p.Ala318Pro)
c.922G>C (p.Ala308Pro)
c.337G>C (p.Ala113Pro)
c.1048G>C (p.Ala350Pro)
c.274G>C (p.Ala92Pro)
n.1275G>C
c.454G>C (p.Ala152Pro)
n.1269G>C
Xg.53255847C>TCA10420125IQSEC2c.1111G>A (p.Ala371Thr)
c.241G>A (p.Ala81Thr)
c.952G>A (p.Ala318Thr)
c.922G>A (p.Ala308Thr)
c.337G>A (p.Ala113Thr)
c.1048G>A (p.Ala350Thr)
c.274G>A (p.Ala92Thr)
n.1275G>A
c.454G>A (p.Ala152Thr)
n.1269G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53255848C>ACA413171232IQSEC2c.1110G>T (p.Lys370Asn)
c.240G>T (p.Lys80Asn)
c.951G>T (p.Lys317Asn)
c.921G>T (p.Lys307Asn)
c.336G>T (p.Lys112Asn)
c.1047G>T (p.Lys349Asn)
c.273G>T (p.Lys91Asn)
n.1274G>T
c.453G>T (p.Lys151Asn)
n.1268G>T
Xg.53255848C>GCA413171233IQSEC2c.1110G>C (p.Lys370Asn)
c.240G>C (p.Lys80Asn)
c.951G>C (p.Lys317Asn)
c.921G>C (p.Lys307Asn)
c.336G>C (p.Lys112Asn)
c.1047G>C (p.Lys349Asn)
c.273G>C (p.Lys91Asn)
n.1274G>C
c.453G>C (p.Lys151Asn)
n.1268G>C
Xg.53255848C>TCA516674377IQSEC2c.1110G>A (p.Lys370=)
c.240G>A (p.Lys80=)
c.951G>A (p.Lys317=)
c.921G>A (p.Lys307=)
c.336G>A (p.Lys112=)
c.1047G>A (p.Lys349=)
c.273G>A (p.Lys91=)
n.1274G>A
c.453G>A (p.Lys151=)
n.1268G>A
Xg.53255849T>ACA413171234IQSEC2c.1109A>T (p.Lys370Met)
c.239A>T (p.Lys80Met)
c.950A>T (p.Lys317Met)
c.920A>T (p.Lys307Met)
c.335A>T (p.Lys112Met)
c.1046A>T (p.Lys349Met)
c.272A>T (p.Lys91Met)
n.1273A>T
c.452A>T (p.Lys151Met)
n.1267A>T
Xg.53255849T>CCA413171240IQSEC2c.1109A>G (p.Lys370Arg)
c.239A>G (p.Lys80Arg)
c.950A>G (p.Lys317Arg)
c.920A>G (p.Lys307Arg)
c.335A>G (p.Lys112Arg)
c.1046A>G (p.Lys349Arg)
c.272A>G (p.Lys91Arg)
n.1273A>G
c.452A>G (p.Lys151Arg)
n.1267A>G
Xg.53255849T>GCA413171237IQSEC2c.1109A>C (p.Lys370Thr)
c.239A>C (p.Lys80Thr)
c.950A>C (p.Lys317Thr)
c.920A>C (p.Lys307Thr)
c.335A>C (p.Lys112Thr)
c.1046A>C (p.Lys349Thr)
c.272A>C (p.Lys91Thr)
n.1273A>C
c.452A>C (p.Lys151Thr)
n.1267A>C
Xg.53255850T>ACA413171242IQSEC2c.1108A>T (p.Lys370Ter)
c.238A>T (p.Lys80Ter)
c.949A>T (p.Lys317Ter)
c.919A>T (p.Lys307Ter)
c.334A>T (p.Lys112Ter)
c.1045A>T (p.Lys349Ter)
c.271A>T (p.Lys91Ter)
n.1272A>T
c.451A>T (p.Lys151Ter)
n.1266A>T

Number of alleles fetched