Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.50086361C>ACA413185080CLCN5c.1048C>A (p.Arg350Ser)
c.298C>A (p.Arg100Ser)
c.838C>A (p.Arg280Ser)
c.1335C>A
c.*223C>A (n.*223C>A)
c.898C>A (p.Arg300Ser)
c.1060C>A (p.Arg354Ser)
Xg.50086361C>GCA413185081CLCN5c.1048C>G (p.Arg350Gly)
c.298C>G (p.Arg100Gly)
c.838C>G (p.Arg280Gly)
c.1335C>G
c.*223C>G (n.*223C>G)
c.898C>G (p.Arg300Gly)
c.1060C>G (p.Arg354Gly)
Xg.50086361C>TCA413185082CLCN5c.1048C>T (p.Arg350Cys)
c.298C>T (p.Arg100Cys)
c.838C>T (p.Arg280Cys)
c.1335C>T
c.*223C>T (n.*223C>T)
c.898C>T (p.Arg300Cys)
c.1060C>T (p.Arg354Cys)
 gnomAD v4 COSMIC COSMIC
Xg.50086362G>ACA10413833CLCN5c.1049G>A (p.Arg350His)
c.299G>A (p.Arg100His)
c.839G>A (p.Arg280His)
c.1336G>A
c.*224G>A (n.*224G>A)
c.899G>A (p.Arg300His)
c.1061G>A (p.Arg354His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50086362G>CCA121689CLCN5c.1049G>C (p.Arg350Pro)
c.299G>C (p.Arg100Pro)
c.839G>C (p.Arg280Pro)
c.1336G>C
c.*224G>C (n.*224G>C)
c.899G>C (p.Arg300Pro)
c.1061G>C (p.Arg354Pro)
 ClinVar dbSNP
Xg.50086362G=CA2428768857CLCN5c.1049G= (p.Arg350=)
c.299G= (p.Arg100=)
c.839G= (p.Arg280=)
c.1336G=
c.*224G= (n.*224G=)
c.899G= (p.Arg300=)
c.1061G= (p.Arg354=)
Xg.50086362G>TCA413185083CLCN5c.1049G>T (p.Arg350Leu)
c.299G>T (p.Arg100Leu)
c.839G>T (p.Arg280Leu)
c.1336G>T
c.*224G>T (n.*224G>T)
c.899G>T (p.Arg300Leu)
c.1061G>T (p.Arg354Leu)
Xg.50086363T>ACA516678027CLCN5c.1050T>A (p.Arg350=)
c.300T>A (p.Arg100=)
c.840T>A (p.Arg280=)
c.1337T>A
c.*225T>A (n.*225T>A)
c.900T>A (p.Arg300=)
c.1062T>A (p.Arg354=)
Xg.50086363T>CCA516678030CLCN5c.1050T>C (p.Arg350=)
c.300T>C (p.Arg100=)
c.840T>C (p.Arg280=)
c.1337T>C
c.*225T>C (n.*225T>C)
c.900T>C (p.Arg300=)
c.1062T>C (p.Arg354=)
Xg.50086363T>GCA516678032CLCN5c.1050T>G (p.Arg350=)
c.300T>G (p.Arg100=)
c.840T>G (p.Arg280=)
c.1337T>G
c.*225T>G (n.*225T>G)
c.900T>G (p.Arg300=)
c.1062T>G (p.Arg354=)
Xg.50086364T>ACA413185084CLCN5c.1051T>A (p.Ser351Thr)
c.301T>A (p.Ser101Thr)
c.841T>A (p.Ser281Thr)
c.1338T>A
c.*226T>A (n.*226T>A)
c.901T>A (p.Ser301Thr)
c.1063T>A (p.Ser355Thr)
Xg.50086364T>CCA413185085CLCN5c.1051T>C (p.Ser351Pro)
c.301T>C (p.Ser101Pro)
c.841T>C (p.Ser281Pro)
c.1338T>C
c.*226T>C (n.*226T>C)
c.901T>C (p.Ser301Pro)
c.1063T>C (p.Ser355Pro)
Xg.50086364T>GCA413185086CLCN5c.1051T>G (p.Ser351Ala)
c.301T>G (p.Ser101Ala)
c.841T>G (p.Ser281Ala)
c.1338T>G
c.*226T>G (n.*226T>G)
c.901T>G (p.Ser301Ala)
c.1063T>G (p.Ser355Ala)
Xg.50086365C>ACA413185088CLCN5c.1052C>A (p.Ser351Ter)
c.302C>A (p.Ser101Ter)
c.842C>A (p.Ser281Ter)
c.1339C>A
c.*227C>A (n.*227C>A)
c.902C>A (p.Ser301Ter)
c.1064C>A (p.Ser355Ter)
Xg.50086365C>GCA413185089CLCN5c.1052C>G (p.Ser351Ter)
c.302C>G (p.Ser101Ter)
c.842C>G (p.Ser281Ter)
c.1339C>G
c.*227C>G (n.*227C>G)
c.902C>G (p.Ser301Ter)
c.1064C>G (p.Ser355Ter)
Xg.50086365C>TCA413185087CLCN5c.1052C>T (p.Ser351Leu)
c.302C>T (p.Ser101Leu)
c.842C>T (p.Ser281Leu)
c.1339C>T
c.*227C>T (n.*227C>T)
c.902C>T (p.Ser301Leu)
c.1064C>T (p.Ser355Leu)
Xg.50086366A>CCA516678039CLCN5c.1053A>C (p.Ser351=)
c.303A>C (p.Ser101=)
c.843A>C (p.Ser281=)
c.1340A>C
c.*228A>C (n.*228A>C)
c.903A>C (p.Ser301=)
c.1065A>C (p.Ser355=)
Xg.50086366A>GCA516678040CLCN5c.1053A>G (p.Ser351=)
c.303A>G (p.Ser101=)
c.843A>G (p.Ser281=)
c.1340A>G
c.*228A>G (n.*228A>G)
c.903A>G (p.Ser301=)
c.1065A>G (p.Ser355=)
Xg.50086366A>TCA516678041CLCN5c.1053A>T (p.Ser351=)
c.303A>T (p.Ser101=)
c.843A>T (p.Ser281=)
c.1340A>T
c.*228A>T (n.*228A>T)
c.903A>T (p.Ser301=)
c.1065A>T (p.Ser355=)
Xg.50086367T>ACA413185090CLCN5c.1054T>A (p.Phe352Ile)
c.304T>A (p.Phe102Ile)
c.844T>A (p.Phe282Ile)
c.1341T>A
c.*229T>A (n.*229T>A)
c.904T>A (p.Phe302Ile)
c.1066T>A (p.Phe356Ile)
Xg.50086367T>CCA413185091CLCN5c.1054T>C (p.Phe352Leu)
c.304T>C (p.Phe102Leu)
c.844T>C (p.Phe282Leu)
c.1341T>C
c.*229T>C (n.*229T>C)
c.904T>C (p.Phe302Leu)
c.1066T>C (p.Phe356Leu)
Xg.50086367T>GCA413185092CLCN5c.1054T>G (p.Phe352Val)
c.304T>G (p.Phe102Val)
c.844T>G (p.Phe282Val)
c.1341T>G
c.*229T>G (n.*229T>G)
c.904T>G (p.Phe302Val)
c.1066T>G (p.Phe356Val)
Xg.50086368T>ACA413185093CLCN5c.1055T>A (p.Phe352Tyr)
c.305T>A (p.Phe102Tyr)
c.845T>A (p.Phe282Tyr)
c.1342T>A
c.*230T>A (n.*230T>A)
c.905T>A (p.Phe302Tyr)
c.1067T>A (p.Phe356Tyr)
Xg.50086368T>CCA413185094CLCN5c.1055T>C (p.Phe352Ser)
c.305T>C (p.Phe102Ser)
c.845T>C (p.Phe282Ser)
c.1342T>C
c.*230T>C (n.*230T>C)
c.905T>C (p.Phe302Ser)
c.1067T>C (p.Phe356Ser)
Xg.50086368T>GCA413185095CLCN5c.1055T>G (p.Phe352Cys)
c.305T>G (p.Phe102Cys)
c.845T>G (p.Phe282Cys)
c.1342T>G
c.*230T>G (n.*230T>G)
c.905T>G (p.Phe302Cys)
c.1067T>G (p.Phe356Cys)
Xg.50086369C>ACA413185096CLCN5c.1056C>A (p.Phe352Leu)
c.306C>A (p.Phe102Leu)
c.846C>A (p.Phe282Leu)
c.1343C>A
c.*231C>A (n.*231C>A)
c.906C>A (p.Phe302Leu)
c.1068C>A (p.Phe356Leu)
Xg.50086369C>GCA413185097CLCN5c.1056C>G (p.Phe352Leu)
c.306C>G (p.Phe102Leu)
c.846C>G (p.Phe282Leu)
c.1343C>G
c.*231C>G (n.*231C>G)
c.906C>G (p.Phe302Leu)
c.1068C>G (p.Phe356Leu)
Xg.50086369C>TCA516678044CLCN5c.1056C>T (p.Phe352=)
c.306C>T (p.Phe102=)
c.846C>T (p.Phe282=)
c.1343C>T
c.*231C>T (n.*231C>T)
c.906C>T (p.Phe302=)
c.1068C>T (p.Phe356=)
 gnomAD v4
Xg.50086370T>ACA413185098CLCN5c.1057T>A (p.Phe353Ile)
c.307T>A (p.Phe103Ile)
c.847T>A (p.Phe283Ile)
c.1344T>A
c.*232T>A (n.*232T>A)
c.907T>A (p.Phe303Ile)
c.1069T>A (p.Phe357Ile)
Xg.50086370T>CCA413185099CLCN5c.1057T>C (p.Phe353Leu)
c.307T>C (p.Phe103Leu)
c.847T>C (p.Phe283Leu)
c.1344T>C
c.*232T>C (n.*232T>C)
c.907T>C (p.Phe303Leu)
c.1069T>C (p.Phe357Leu)
Xg.50086370T>GCA413185100CLCN5c.1057T>G (p.Phe353Val)
c.307T>G (p.Phe103Val)
c.847T>G (p.Phe283Val)
c.1344T>G
c.*232T>G (n.*232T>G)
c.907T>G (p.Phe303Val)
c.1069T>G (p.Phe357Val)
Xg.50086371T>ACA413185101CLCN5c.1058T>A (p.Phe353Tyr)
c.308T>A (p.Phe103Tyr)
c.848T>A (p.Phe283Tyr)
c.1345T>A
c.*233T>A (n.*233T>A)
c.908T>A (p.Phe303Tyr)
c.1070T>A (p.Phe357Tyr)
Xg.50086371T>CCA413185102CLCN5c.1058T>C (p.Phe353Ser)
c.308T>C (p.Phe103Ser)
c.848T>C (p.Phe283Ser)
c.1345T>C
c.*233T>C (n.*233T>C)
c.908T>C (p.Phe303Ser)
c.1070T>C (p.Phe357Ser)
Xg.50086371T>GCA413185103CLCN5c.1058T>G (p.Phe353Cys)
c.308T>G (p.Phe103Cys)
c.848T>G (p.Phe283Cys)
c.1345T>G
c.*233T>G (n.*233T>G)
c.908T>G (p.Phe303Cys)
c.1070T>G (p.Phe357Cys)
Xg.50086372T>ACA413185104CLCN5c.1059T>A (p.Phe353Leu)
c.309T>A (p.Phe103Leu)
c.849T>A (p.Phe283Leu)
c.1346T>A
c.*234T>A (n.*234T>A)
c.909T>A (p.Phe303Leu)
c.1071T>A (p.Phe357Leu)
Xg.50086372T>CCA516678051CLCN5c.1059T>C (p.Phe353=)
c.309T>C (p.Phe103=)
c.849T>C (p.Phe283=)
c.1346T>C
c.*234T>C (n.*234T>C)
c.909T>C (p.Phe303=)
c.1071T>C (p.Phe357=)
Xg.50086372T>GCA413185105CLCN5c.1059T>G (p.Phe353Leu)
c.309T>G (p.Phe103Leu)
c.849T>G (p.Phe283Leu)
c.1346T>G
c.*234T>G (n.*234T>G)
c.909T>G (p.Phe303Leu)
c.1071T>G (p.Phe357Leu)
Xg.50086373G>ACA413185106CLCN5c.1060G>A (p.Ala354Thr)
c.310G>A (p.Ala104Thr)
c.850G>A (p.Ala284Thr)
c.1347G>A
c.*235G>A (n.*235G>A)
c.910G>A (p.Ala304Thr)
c.1072G>A (p.Ala358Thr)
Xg.50086373G>CCA413185107CLCN5c.1060G>C (p.Ala354Pro)
c.310G>C (p.Ala104Pro)
c.850G>C (p.Ala284Pro)
c.1347G>C
c.*235G>C (n.*235G>C)
c.910G>C (p.Ala304Pro)
c.1072G>C (p.Ala358Pro)
Xg.50086373G>TCA413185108CLCN5c.1060G>T (p.Ala354Ser)
c.310G>T (p.Ala104Ser)
c.850G>T (p.Ala284Ser)
c.1347G>T
c.*235G>T (n.*235G>T)
c.910G>T (p.Ala304Ser)
c.1072G>T (p.Ala358Ser)
Xg.50086374C>ACA413185109CLCN5c.1061C>A (p.Ala354Asp)
c.311C>A (p.Ala104Asp)
c.851C>A (p.Ala284Asp)
c.1348C>A
c.*236C>A (n.*236C>A)
c.911C>A (p.Ala304Asp)
c.1073C>A (p.Ala358Asp)
Xg.50086374C=CA2428768858CLCN5c.1061C= (p.Ala354=)
c.311C= (p.Ala104=)
c.851C= (p.Ala284=)
c.1348C=
c.*236C= (n.*236C=)
c.911C= (p.Ala304=)
c.1073C= (p.Ala358=)
Xg.50086374C>GCA413185110CLCN5c.1061C>G (p.Ala354Gly)
c.311C>G (p.Ala104Gly)
c.851C>G (p.Ala284Gly)
c.1348C>G
c.*236C>G (n.*236C>G)
c.911C>G (p.Ala304Gly)
c.1073C>G (p.Ala358Gly)
Xg.50086374C>TCA16609466CLCN5c.1061C>T (p.Ala354Val)
c.311C>T (p.Ala104Val)
c.851C>T (p.Ala284Val)
c.1348C>T
c.*236C>T (n.*236C>T)
c.911C>T (p.Ala304Val)
c.1073C>T (p.Ala358Val)
 ClinVar dbSNP gnomAD v4
Xg.50086375T>ACA516678053CLCN5c.1062T>A (p.Ala354=)
c.312T>A (p.Ala104=)
c.852T>A (p.Ala284=)
c.1349T>A
c.*237T>A (n.*237T>A)
c.912T>A (p.Ala304=)
c.1074T>A (p.Ala358=)
Xg.50086375T>CCA516678055CLCN5c.1062T>C (p.Ala354=)
c.312T>C (p.Ala104=)
c.852T>C (p.Ala284=)
c.1349T>C
c.*237T>C (n.*237T>C)
c.912T>C (p.Ala304=)
c.1074T>C (p.Ala358=)
Xg.50086375T>GCA516678054CLCN5c.1062T>G (p.Ala354=)
c.312T>G (p.Ala104=)
c.852T>G (p.Ala284=)
c.1349T>G
c.*237T>G (n.*237T>G)
c.912T>G (p.Ala304=)
c.1074T>G (p.Ala358=)
Xg.50086376G>ACA413185111CLCN5c.1063G>A (p.Ala355Thr)
c.313G>A (p.Ala105Thr)
c.853G>A (p.Ala285Thr)
c.1350G>A
c.*238G>A (n.*238G>A)
c.913G>A (p.Ala305Thr)
c.1075G>A (p.Ala359Thr)
Xg.50086376G>CCA413185112CLCN5c.1063G>C (p.Ala355Pro)
c.313G>C (p.Ala105Pro)
c.853G>C (p.Ala285Pro)
c.1350G>C
c.*238G>C (n.*238G>C)
c.913G>C (p.Ala305Pro)
c.1075G>C (p.Ala359Pro)
Xg.50086376G>TCA413185113CLCN5c.1063G>T (p.Ala355Ser)
c.313G>T (p.Ala105Ser)
c.853G>T (p.Ala285Ser)
c.1350G>T
c.*238G>T (n.*238G>T)
c.913G>T (p.Ala305Ser)
c.1075G>T (p.Ala359Ser)

Number of alleles fetched