Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50086363T>A | CA516678027 | CLCN5 | c.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=) | |
X | g.50086363T>C | CA516678030 | CLCN5 | c.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=) | |
X | g.50086363T>G | CA516678032 | CLCN5 | c.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=) | |
X | g.50086364T>A | CA413185084 | CLCN5 | c.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) | |
X | g.50086364T>C | CA413185085 | CLCN5 | c.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) | |
X | g.50086364T>G | CA413185086 | CLCN5 | c.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) | |
X | g.50086365C>A | CA413185088 | CLCN5 | c.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) | |
X | g.50086365C>G | CA413185089 | CLCN5 | c.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) | |
X | g.50086365C>T | CA413185087 | CLCN5 | c.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) | |
X | g.50086366A>C | CA516678039 | CLCN5 | c.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=) | |
X | g.50086366A>G | CA516678040 | CLCN5 | c.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=) | |
X | g.50086366A>T | CA516678041 | CLCN5 | c.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=) | |
X | g.50086367T>A | CA413185090 | CLCN5 | c.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) | |
X | g.50086367T>C | CA413185091 | CLCN5 | c.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) | |
X | g.50086367T>G | CA413185092 | CLCN5 | c.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) | |
X | g.50086368T>A | CA413185093 | CLCN5 | c.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) | |
X | g.50086368T>C | CA413185094 | CLCN5 | c.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) | |
X | g.50086368T>G | CA413185095 | CLCN5 | c.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) | |
X | g.50086369C>A | CA413185096 | CLCN5 | c.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) | |
X | g.50086369C>G | CA413185097 | CLCN5 | c.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) | |
X | g.50086369C>T | CA516678044 | CLCN5 | c.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 |
X | g.50086370T>A | CA413185098 | CLCN5 | c.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) | |
X | g.50086370T>C | CA413185099 | CLCN5 | c.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) | |
X | g.50086370T>G | CA413185100 | CLCN5 | c.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) | |
X | g.50086371T>A | CA413185101 | CLCN5 | c.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) | |
X | g.50086371T>C | CA413185102 | CLCN5 | c.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) | |
X | g.50086371T>G | CA413185103 | CLCN5 | c.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) | |
X | g.50086372T>A | CA413185104 | CLCN5 | c.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) | |
X | g.50086372T>C | CA516678051 | CLCN5 | c.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=) | |
X | g.50086372T>G | CA413185105 | CLCN5 | c.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) | |
X | g.50086373G>A | CA413185106 | CLCN5 | c.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) | |
X | g.50086373G>C | CA413185107 | CLCN5 | c.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) | |
X | g.50086373G>T | CA413185108 | CLCN5 | c.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) | |
X | g.50086374C>A | CA413185109 | CLCN5 | c.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) | |
X | g.50086374C= | CA2428768858 | CLCN5 | c.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=) | |
X | g.50086374C>G | CA413185110 | CLCN5 | c.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) | |
X | g.50086374C>T | CA16609466 | CLCN5 | c.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 |
X | g.50086375T>A | CA516678053 | CLCN5 | c.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=) | |
X | g.50086375T>C | CA516678055 | CLCN5 | c.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=) | |
X | g.50086375T>G | CA516678054 | CLCN5 | c.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=) | |
X | g.50086376G>A | CA413185111 | CLCN5 | c.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) | |
X | g.50086376G>C | CA413185112 | CLCN5 | c.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) | |
X | g.50086376G>T | CA413185113 | CLCN5 | c.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) | |
X | g.50086377C>A | CA413185114 | CLCN5 | c.1064C>A (p.Ala355Asp) c.314C>A (p.Ala105Asp) c.854C>A (p.Ala285Asp) c.1351C>A c.*239C>A (n.*239C>A) c.914C>A (p.Ala305Asp) c.1076C>A (p.Ala359Asp) | |
X | g.50086377C>G | CA413185115 | CLCN5 | c.1064C>G (p.Ala355Gly) c.314C>G (p.Ala105Gly) c.854C>G (p.Ala285Gly) c.1351C>G c.*239C>G (n.*239C>G) c.914C>G (p.Ala305Gly) c.1076C>G (p.Ala359Gly) | |
X | g.50086377C>T | CA413185116 | CLCN5 | c.1064C>T (p.Ala355Val) c.314C>T (p.Ala105Val) c.854C>T (p.Ala285Val) c.1351C>T c.*239C>T (n.*239C>T) c.914C>T (p.Ala305Val) c.1076C>T (p.Ala359Val) | |
X | g.50086378C>A | CA516678057 | CLCN5 | c.1065C>A (p.Ala355=) c.315C>A (p.Ala105=) c.855C>A (p.Ala285=) c.1352C>A c.*240C>A (n.*240C>A) c.915C>A (p.Ala305=) c.1077C>A (p.Ala359=) | |
X | g.50086378C>G | CA516678058 | CLCN5 | c.1065C>G (p.Ala355=) c.315C>G (p.Ala105=) c.855C>G (p.Ala285=) c.1352C>G c.*240C>G (n.*240C>G) c.915C>G (p.Ala305=) c.1077C>G (p.Ala359=) | |
X | g.50086378C>T | CA516678059 | CLCN5 | c.1065C>T (p.Ala355=) c.315C>T (p.Ala105=) c.855C>T (p.Ala285=) c.1352C>T c.*240C>T (n.*240C>T) c.915C>T (p.Ala305=) c.1077C>T (p.Ala359=) | gnomAD v4 |
X | g.50086379T>A | CA413185117 | CLCN5 | c.1066T>A (p.Leu356Met) c.316T>A (p.Leu106Met) c.856T>A (p.Leu286Met) c.1353T>A c.*241T>A (n.*241T>A) c.916T>A (p.Leu306Met) c.1078T>A (p.Leu360Met) |