| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086600G>A | CA516678576 | CLCN5 | c.1287G>A (p.Glu429=) c.537G>A (p.Glu179=) c.1077G>A (p.Glu359=) c.1574G>A c.*462G>A (n.*462G>A) c.1137G>A (p.Glu379=) c.1299G>A (p.Glu433=) | gnomAD v4 |
| X | g.50086600G>C | CA413185595 | CLCN5 | c.1287G>C (p.Glu429Asp) c.537G>C (p.Glu179Asp) c.1077G>C (p.Glu359Asp) c.1574G>C c.*462G>C (n.*462G>C) c.1137G>C (p.Glu379Asp) c.1299G>C (p.Glu433Asp) | |
| X | g.50086600G>T | CA413185596 | CLCN5 | c.1287G>T (p.Glu429Asp) c.537G>T (p.Glu179Asp) c.1077G>T (p.Glu359Asp) c.1574G>T c.*462G>T (n.*462G>T) c.1137G>T (p.Glu379Asp) c.1299G>T (p.Glu433Asp) | |
| X | g.50086601del | CA2830782845 | CLCN5 | c.1288del (p.Val430TyrfsTer4) c.538del (p.Val180TyrfsTer4) c.1078del (p.Val360TyrfsTer4) c.1575del c.*463del (n.*463del) c.1138del (p.Val380TyrfsTer4) c.1300del (p.Val434TyrfsTer4) | |
| X | g.50086601G>A | CA413185597 | CLCN5 | c.1288G>A (p.Val430Ile) c.538G>A (p.Val180Ile) c.1078G>A (p.Val360Ile) c.1575G>A c.*463G>A (n.*463G>A) c.1138G>A (p.Val380Ile) c.1300G>A (p.Val434Ile) | |
| X | g.50086601G>C | CA413185598 | CLCN5 | c.1288G>C (p.Val430Leu) c.538G>C (p.Val180Leu) c.1078G>C (p.Val360Leu) c.1575G>C c.*463G>C (n.*463G>C) c.1138G>C (p.Val380Leu) c.1300G>C (p.Val434Leu) | |
| X | g.50086601G>T | CA413185599 | CLCN5 | c.1288G>T (p.Val430Leu) c.538G>T (p.Val180Leu) c.1078G>T (p.Val360Leu) c.1575G>T c.*463G>T (n.*463G>T) c.1138G>T (p.Val380Leu) c.1300G>T (p.Val434Leu) | |
| X | g.50086602T>A | CA413185600 | CLCN5 | c.1289T>A (p.Val430Glu) c.539T>A (p.Val180Glu) c.1079T>A (p.Val360Glu) c.1576T>A c.*464T>A (n.*464T>A) c.1139T>A (p.Val380Glu) c.1301T>A (p.Val434Glu) | |
| X | g.50086602T>C | CA413185601 | CLCN5 | c.1289T>C (p.Val430Ala) c.539T>C (p.Val180Ala) c.1079T>C (p.Val360Ala) c.1576T>C c.*464T>C (n.*464T>C) c.1139T>C (p.Val380Ala) c.1301T>C (p.Val434Ala) | |
| X | g.50086602T>G | CA413185602 | CLCN5 | c.1289T>G (p.Val430Gly) c.539T>G (p.Val180Gly) c.1079T>G (p.Val360Gly) c.1576T>G c.*464T>G (n.*464T>G) c.1139T>G (p.Val380Gly) c.1301T>G (p.Val434Gly) | |
| X | g.50086603A>C | CA516678577 | CLCN5 | c.1290A>C (p.Val430=) c.540A>C (p.Val180=) c.1080A>C (p.Val360=) c.1577A>C c.*465A>C (n.*465A>C) c.1140A>C (p.Val380=) c.1302A>C (p.Val434=) | |
| X | g.50086603A>G | CA516678578 | CLCN5 | c.1290A>G (p.Val430=) c.540A>G (p.Val180=) c.1080A>G (p.Val360=) c.1577A>G c.*465A>G (n.*465A>G) c.1140A>G (p.Val380=) c.1302A>G (p.Val434=) | |
| X | g.50086603A>T | CA516678579 | CLCN5 | c.1290A>T (p.Val430=) c.540A>T (p.Val180=) c.1080A>T (p.Val360=) c.1577A>T c.*465A>T (n.*465A>T) c.1140A>T (p.Val380=) c.1302A>T (p.Val434=) | |
| X | g.50086604C>A | CA413185603 | CLCN5 | c.1291C>A (p.Leu431Ile) c.541C>A (p.Leu181Ile) c.1081C>A (p.Leu361Ile) c.1578C>A c.*466C>A (n.*466C>A) c.1141C>A (p.Leu381Ile) c.1303C>A (p.Leu435Ile) | |
| X | g.50086604C= | CA2428768917 | CLCN5 | c.1291C= (p.Leu431=) c.541C= (p.Leu181=) c.1081C= (p.Leu361=) c.1578C= c.*466C= (n.*466C=) c.1141C= (p.Leu381=) c.1303C= (p.Leu435=) | |
| X | g.50086604C>G | CA413185604 | CLCN5 | c.1291C>G (p.Leu431Val) c.541C>G (p.Leu181Val) c.1081C>G (p.Leu361Val) c.1578C>G c.*466C>G (n.*466C>G) c.1141C>G (p.Leu381Val) c.1303C>G (p.Leu435Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086604C>T | CA413185605 | CLCN5 | c.1291C>T (p.Leu431Phe) c.541C>T (p.Leu181Phe) c.1081C>T (p.Leu361Phe) c.1578C>T c.*466C>T (n.*466C>T) c.1141C>T (p.Leu381Phe) c.1303C>T (p.Leu435Phe) | |
| X | g.50086605T>A | CA413185608 | CLCN5 | c.1292T>A (p.Leu431His) c.542T>A (p.Leu181His) c.1082T>A (p.Leu361His) c.1579T>A c.*467T>A (n.*467T>A) c.1142T>A (p.Leu381His) c.1304T>A (p.Leu435His) | |
| X | g.50086605T>C | CA413185606 | CLCN5 | c.1292T>C (p.Leu431Pro) c.542T>C (p.Leu181Pro) c.1082T>C (p.Leu361Pro) c.1579T>C c.*467T>C (n.*467T>C) c.1142T>C (p.Leu381Pro) c.1304T>C (p.Leu435Pro) | |
| X | g.50086605T>G | CA413185607 | CLCN5 | c.1292T>G (p.Leu431Arg) c.542T>G (p.Leu181Arg) c.1082T>G (p.Leu361Arg) c.1579T>G c.*467T>G (n.*467T>G) c.1142T>G (p.Leu381Arg) c.1304T>G (p.Leu435Arg) | |
| X | g.50086606C>A | CA516678581 | CLCN5 | c.1293C>A (p.Leu431=) c.543C>A (p.Leu181=) c.1083C>A (p.Leu361=) c.1580C>A c.*468C>A (n.*468C>A) c.1143C>A (p.Leu381=) c.1305C>A (p.Leu435=) | gnomAD v4 |
| X | g.50086606C= | CA2428768918 | CLCN5 | c.1293C= (p.Leu431=) c.543C= (p.Leu181=) c.1083C= (p.Leu361=) c.1580C= c.*468C= (n.*468C=) c.1143C= (p.Leu381=) c.1305C= (p.Leu435=) | |
| X | g.50086606C>G | CA516678582 | CLCN5 | c.1293C>G (p.Leu431=) c.543C>G (p.Leu181=) c.1083C>G (p.Leu361=) c.1580C>G c.*468C>G (n.*468C>G) c.1143C>G (p.Leu381=) c.1305C>G (p.Leu435=) | |
| X | g.50086606C>T | CA516678583 | CLCN5 | c.1293C>T (p.Leu431=) c.543C>T (p.Leu181=) c.1083C>T (p.Leu361=) c.1580C>T c.*468C>T (n.*468C>T) c.1143C>T (p.Leu381=) c.1305C>T (p.Leu435=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086607G>A | CA10413858 | CLCN5 | c.1294G>A (p.Val432Ile) c.544G>A (p.Val182Ile) c.1084G>A (p.Val362Ile) c.1581G>A c.*469G>A (n.*469G>A) c.1144G>A (p.Val382Ile) c.1306G>A (p.Val436Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.50086607G>C | CA413185609 | CLCN5 | c.1294G>C (p.Val432Leu) c.544G>C (p.Val182Leu) c.1084G>C (p.Val362Leu) c.1581G>C c.*469G>C (n.*469G>C) c.1144G>C (p.Val382Leu) c.1306G>C (p.Val436Leu) | |
| X | g.50086607G= | CA2428768919 | CLCN5 | c.1294G= (p.Val432=) c.544G= (p.Val182=) c.1084G= (p.Val362=) c.1581G= c.*469G= (n.*469G=) c.1144G= (p.Val382=) c.1306G= (p.Val436=) | |
| X | g.50086607G>T | CA413185610 | CLCN5 | c.1294G>T (p.Val432Phe) c.544G>T (p.Val182Phe) c.1084G>T (p.Val362Phe) c.1581G>T c.*469G>T (n.*469G>T) c.1144G>T (p.Val382Phe) c.1306G>T (p.Val436Phe) | gnomAD v4 |
| X | g.50086608T>A | CA413185611 | CLCN5 | c.1295T>A (p.Val432Asp) c.545T>A (p.Val182Asp) c.1085T>A (p.Val362Asp) c.1582T>A c.*470T>A (n.*470T>A) c.1145T>A (p.Val382Asp) c.1307T>A (p.Val436Asp) | |
| X | g.50086608T>C | CA413185612 | CLCN5 | c.1295T>C (p.Val432Ala) c.545T>C (p.Val182Ala) c.1085T>C (p.Val362Ala) c.1582T>C c.*470T>C (n.*470T>C) c.1145T>C (p.Val382Ala) c.1307T>C (p.Val436Ala) | |
| X | g.50086608T>G | CA413185613 | CLCN5 | c.1295T>G (p.Val432Gly) c.545T>G (p.Val182Gly) c.1085T>G (p.Val362Gly) c.1582T>G c.*470T>G (n.*470T>G) c.1145T>G (p.Val382Gly) c.1307T>G (p.Val436Gly) | |
| X | g.50086609C>A | CA516678192 | CLCN5 | c.1296C>A (p.Val432=) c.546C>A (p.Val182=) c.1086C>A (p.Val362=) c.1583C>A c.*471C>A (n.*471C>A) c.1146C>A (p.Val382=) c.1308C>A (p.Val436=) | |
| X | g.50086609C= | CA2428768920 | CLCN5 | c.1296C= (p.Val432=) c.546C= (p.Val182=) c.1086C= (p.Val362=) c.1583C= c.*471C= (n.*471C=) c.1146C= (p.Val382=) c.1308C= (p.Val436=) | |
| X | g.50086609C>G | CA516678195 | CLCN5 | c.1296C>G (p.Val432=) c.546C>G (p.Val182=) c.1086C>G (p.Val362=) c.1583C>G c.*471C>G (n.*471C>G) c.1146C>G (p.Val382=) c.1308C>G (p.Val436=) | |
| X | g.50086609C>T | CA10413859 | CLCN5 | c.1296C>T (p.Val432=) c.546C>T (p.Val182=) c.1086C>T (p.Val362=) c.1583C>T c.*471C>T (n.*471C>T) c.1146C>T (p.Val382=) c.1308C>T (p.Val436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086610_50086623del | CA2695233684 | CLCN5 | c.1297_1310del (p.Val433CysfsTer8) c.547_560del (p.Val183CysfsTer8) c.1087_1100del (p.Val363CysfsTer8) c.1584_1597del c.*472_*485del (n.*472_*485del) c.1147_1160del (p.Val383CysfsTer8) c.1309_1322del (p.Val437CysfsTer8) | |
| X | g.50086610G>A | CA10413860 | CLCN5 | c.1297G>A (p.Val433Met) c.547G>A (p.Val183Met) c.1087G>A (p.Val363Met) c.1584G>A c.*472G>A (n.*472G>A) c.1147G>A (p.Val383Met) c.1309G>A (p.Val437Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086610G>C | CA413185614 | CLCN5 | c.1297G>C (p.Val433Leu) c.547G>C (p.Val183Leu) c.1087G>C (p.Val363Leu) c.1584G>C c.*472G>C (n.*472G>C) c.1147G>C (p.Val383Leu) c.1309G>C (p.Val437Leu) | |
| X | g.50086610G= | CA2428768921 | CLCN5 | c.1297G= (p.Val433=) c.547G= (p.Val183=) c.1087G= (p.Val363=) c.1584G= c.*472G= (n.*472G=) c.1147G= (p.Val383=) c.1309G= (p.Val437=) | |
| X | g.50086610G>T | CA413185615 | CLCN5 | c.1297G>T (p.Val433Leu) c.547G>T (p.Val183Leu) c.1087G>T (p.Val363Leu) c.1584G>T c.*472G>T (n.*472G>T) c.1147G>T (p.Val383Leu) c.1309G>T (p.Val437Leu) | |
| X | g.50086611T>A | CA413185617 | CLCN5 | c.1298T>A (p.Val433Glu) c.548T>A (p.Val183Glu) c.1088T>A (p.Val363Glu) c.1585T>A c.*473T>A (n.*473T>A) c.1148T>A (p.Val383Glu) c.1310T>A (p.Val437Glu) | |
| X | g.50086611T>C | CA413185618 | CLCN5 | c.1298T>C (p.Val433Ala) c.548T>C (p.Val183Ala) c.1088T>C (p.Val363Ala) c.1585T>C c.*473T>C (n.*473T>C) c.1148T>C (p.Val383Ala) c.1310T>C (p.Val437Ala) | |
| X | g.50086611T>G | CA413185616 | CLCN5 | c.1298T>G (p.Val433Gly) c.548T>G (p.Val183Gly) c.1088T>G (p.Val363Gly) c.1585T>G c.*473T>G (n.*473T>G) c.1148T>G (p.Val383Gly) c.1310T>G (p.Val437Gly) | |
| X | g.50086612G>A | CA516678216 | CLCN5 | c.1299G>A (p.Val433=) c.549G>A (p.Val183=) c.1089G>A (p.Val363=) c.1586G>A c.*474G>A (n.*474G>A) c.1149G>A (p.Val383=) c.1311G>A (p.Val437=) | dbSNP |
| X | g.50086612G>C | CA516678212 | CLCN5 | c.1299G>C (p.Val433=) c.549G>C (p.Val183=) c.1089G>C (p.Val363=) c.1586G>C c.*474G>C (n.*474G>C) c.1149G>C (p.Val383=) c.1311G>C (p.Val437=) | |
| X | g.50086612G= | CA2428768922 | CLCN5 | c.1299G= (p.Val433=) c.549G= (p.Val183=) c.1089G= (p.Val363=) c.1586G= c.*474G= (n.*474G=) c.1149G= (p.Val383=) c.1311G= (p.Val437=) | |
| X | g.50086612G>T | CA516678209 | CLCN5 | c.1299G>T (p.Val433=) c.549G>T (p.Val183=) c.1089G>T (p.Val363=) c.1586G>T c.*474G>T (n.*474G>T) c.1149G>T (p.Val383=) c.1311G>T (p.Val437=) | |
| X | g.50086613A>C | CA413185619 | CLCN5 | c.1300A>C (p.Thr434Pro) c.550A>C (p.Thr184Pro) c.1090A>C (p.Thr364Pro) c.1587A>C c.*475A>C (n.*475A>C) c.1150A>C (p.Thr384Pro) c.1312A>C (p.Thr438Pro) | |
| X | g.50086613A>G | CA413185620 | CLCN5 | c.1300A>G (p.Thr434Ala) c.550A>G (p.Thr184Ala) c.1090A>G (p.Thr364Ala) c.1587A>G c.*475A>G (n.*475A>G) c.1150A>G (p.Thr384Ala) c.1312A>G (p.Thr438Ala) | |
| X | g.50086613A>T | CA413185621 | CLCN5 | c.1300A>T (p.Thr434Ser) c.550A>T (p.Thr184Ser) c.1090A>T (p.Thr364Ser) c.1587A>T c.*475A>T (n.*475A>T) c.1150A>T (p.Thr384Ser) c.1312A>T (p.Thr438Ser) | |
| X | g.50086614C>A | CA413185622 | CLCN5 | c.1301C>A (p.Thr434Lys) c.551C>A (p.Thr184Lys) c.1091C>A (p.Thr364Lys) c.1588C>A c.*476C>A (n.*476C>A) c.1151C>A (p.Thr384Lys) c.1313C>A (p.Thr438Lys) | |
| X | g.50086614C>G | CA413185623 | CLCN5 | c.1301C>G (p.Thr434Arg) c.551C>G (p.Thr184Arg) c.1091C>G (p.Thr364Arg) c.1588C>G c.*476C>G (n.*476C>G) c.1151C>G (p.Thr384Arg) c.1313C>G (p.Thr438Arg) | |
| X | g.50086614C>T | CA413185624 | CLCN5 | c.1301C>T (p.Thr434Ile) c.551C>T (p.Thr184Ile) c.1091C>T (p.Thr364Ile) c.1588C>T c.*476C>T (n.*476C>T) c.1151C>T (p.Thr384Ile) c.1313C>T (p.Thr438Ile) | |
| X | g.50086615A= | CA2428768923 | CLCN5 | c.1302A= (p.Thr434=) c.552A= (p.Thr184=) c.1092A= (p.Thr364=) c.1589A= c.*477A= (n.*477A=) c.1152A= (p.Thr384=) c.1314A= (p.Thr438=) | |
| X | g.50086615A>C | CA516678221 | CLCN5 | c.1302A>C (p.Thr434=) c.552A>C (p.Thr184=) c.1092A>C (p.Thr364=) c.1589A>C c.*477A>C (n.*477A>C) c.1152A>C (p.Thr384=) c.1314A>C (p.Thr438=) | |
| X | g.50086615A>G | CA10413861 | CLCN5 | c.1302A>G (p.Thr434=) c.552A>G (p.Thr184=) c.1092A>G (p.Thr364=) c.1589A>G c.*477A>G (n.*477A>G) c.1152A>G (p.Thr384=) c.1314A>G (p.Thr438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086615A>T | CA516678222 | CLCN5 | c.1302A>T (p.Thr434=) c.552A>T (p.Thr184=) c.1092A>T (p.Thr364=) c.1589A>T c.*477A>T (n.*477A>T) c.1152A>T (p.Thr384=) c.1314A>T (p.Thr438=) | |
| X | g.50086616G>A | CA413185625 | CLCN5 | c.1303G>A (p.Ala435Thr) c.553G>A (p.Ala185Thr) c.1093G>A (p.Ala365Thr) c.1590G>A c.*478G>A (n.*478G>A) c.1153G>A (p.Ala385Thr) c.1315G>A (p.Ala439Thr) | dbSNP |
| X | g.50086616G>C | CA413185626 | CLCN5 | c.1303G>C (p.Ala435Pro) c.553G>C (p.Ala185Pro) c.1093G>C (p.Ala365Pro) c.1590G>C c.*478G>C (n.*478G>C) c.1153G>C (p.Ala385Pro) c.1315G>C (p.Ala439Pro) | |
| X | g.50086616G= | CA2428768924 | CLCN5 | c.1303G= (p.Ala435=) c.553G= (p.Ala185=) c.1093G= (p.Ala365=) c.1590G= c.*478G= (n.*478G=) c.1153G= (p.Ala385=) c.1315G= (p.Ala439=) | |
| X | g.50086616G>T | CA413185627 | CLCN5 | c.1303G>T (p.Ala435Ser) c.553G>T (p.Ala185Ser) c.1093G>T (p.Ala365Ser) c.1590G>T c.*478G>T (n.*478G>T) c.1153G>T (p.Ala385Ser) c.1315G>T (p.Ala439Ser) | gnomAD v4 |
| X | g.50086617C>A | CA413185628 | CLCN5 | c.1304C>A (p.Ala435Asp) c.554C>A (p.Ala185Asp) c.1094C>A (p.Ala365Asp) c.1591C>A c.*479C>A (n.*479C>A) c.1154C>A (p.Ala385Asp) c.1316C>A (p.Ala439Asp) | |
| X | g.50086617C= | CA2428768925 | CLCN5 | c.1304C= (p.Ala435=) c.554C= (p.Ala185=) c.1094C= (p.Ala365=) c.1591C= c.*479C= (n.*479C=) c.1154C= (p.Ala385=) c.1316C= (p.Ala439=) | |
| X | g.50086617C>G | CA413185629 | CLCN5 | c.1304C>G (p.Ala435Gly) c.554C>G (p.Ala185Gly) c.1094C>G (p.Ala365Gly) c.1591C>G c.*479C>G (n.*479C>G) c.1154C>G (p.Ala385Gly) c.1316C>G (p.Ala439Gly) | |
| X | g.50086617C>T | CA413185630 | CLCN5 | c.1304C>T (p.Ala435Val) c.554C>T (p.Ala185Val) c.1094C>T (p.Ala365Val) c.1591C>T c.*479C>T (n.*479C>T) c.1154C>T (p.Ala385Val) c.1316C>T (p.Ala439Val) | dbSNP |
| X | g.50086618dup | CA2693737106 | CLCN5 | c.1305dup (p.Ile436HisfsTer10) c.555dup (p.Ile186HisfsTer10) c.1095dup (p.Ile366HisfsTer10) c.1592dup c.*480dup (n.*480dup) c.1155dup (p.Ile386HisfsTer10) c.1317dup (p.Ile440HisfsTer10) | gnomAD v4 |
| X | g.50086618C>A | CA516678227 | CLCN5 | c.1305C>A (p.Ala435=) c.555C>A (p.Ala185=) c.1095C>A (p.Ala365=) c.1592C>A c.*480C>A (n.*480C>A) c.1155C>A (p.Ala385=) c.1317C>A (p.Ala439=) | |
| X | g.50086618C>G | CA516678226 | CLCN5 | c.1305C>G (p.Ala435=) c.555C>G (p.Ala185=) c.1095C>G (p.Ala365=) c.1592C>G c.*480C>G (n.*480C>G) c.1155C>G (p.Ala385=) c.1317C>G (p.Ala439=) | |
| X | g.50086618C>T | CA516678225 | CLCN5 | c.1305C>T (p.Ala435=) c.555C>T (p.Ala185=) c.1095C>T (p.Ala365=) c.1592C>T c.*480C>T (n.*480C>T) c.1155C>T (p.Ala385=) c.1317C>T (p.Ala439=) | |
| X | g.50086619A>C | CA413185633 | CLCN5 | c.1306A>C (p.Ile436Leu) c.556A>C (p.Ile186Leu) c.1096A>C (p.Ile366Leu) c.1593A>C c.*481A>C (n.*481A>C) c.1156A>C (p.Ile386Leu) c.1318A>C (p.Ile440Leu) | |
| X | g.50086619A>G | CA413185632 | CLCN5 | c.1306A>G (p.Ile436Val) c.556A>G (p.Ile186Val) c.1096A>G (p.Ile366Val) c.1593A>G c.*481A>G (n.*481A>G) c.1156A>G (p.Ile386Val) c.1318A>G (p.Ile440Val) | |
| X | g.50086619A>T | CA413185631 | CLCN5 | c.1306A>T (p.Ile436Phe) c.556A>T (p.Ile186Phe) c.1096A>T (p.Ile366Phe) c.1593A>T c.*481A>T (n.*481A>T) c.1156A>T (p.Ile386Phe) c.1318A>T (p.Ile440Phe) | |
| X | g.50086620T>A | CA413185634 | CLCN5 | c.1307T>A (p.Ile436Asn) c.557T>A (p.Ile186Asn) c.1097T>A (p.Ile366Asn) c.1594T>A c.*482T>A (n.*482T>A) c.1157T>A (p.Ile386Asn) c.1319T>A (p.Ile440Asn) | |
| X | g.50086620T>C | CA413185635 | CLCN5 | c.1307T>C (p.Ile436Thr) c.557T>C (p.Ile186Thr) c.1097T>C (p.Ile366Thr) c.1594T>C c.*482T>C (n.*482T>C) c.1157T>C (p.Ile386Thr) c.1319T>C (p.Ile440Thr) | |
| X | g.50086620T>G | CA413185636 | CLCN5 | c.1307T>G (p.Ile436Ser) c.557T>G (p.Ile186Ser) c.1097T>G (p.Ile366Ser) c.1594T>G c.*482T>G (n.*482T>G) c.1157T>G (p.Ile386Ser) c.1319T>G (p.Ile440Ser) | |
| X | g.50086621C>A | CA516678234 | CLCN5 | c.1308C>A (p.Ile436=) c.558C>A (p.Ile186=) c.1098C>A (p.Ile366=) c.1595C>A c.*483C>A (n.*483C>A) c.1158C>A (p.Ile386=) c.1320C>A (p.Ile440=) | |
| X | g.50086621C>G | CA413185637 | CLCN5 | c.1308C>G (p.Ile436Met) c.558C>G (p.Ile186Met) c.1098C>G (p.Ile366Met) c.1595C>G c.*483C>G (n.*483C>G) c.1158C>G (p.Ile386Met) c.1320C>G (p.Ile440Met) | |
| X | g.50086621C>T | CA516678237 | CLCN5 | c.1308C>T (p.Ile436=) c.558C>T (p.Ile186=) c.1098C>T (p.Ile366=) c.1595C>T c.*483C>T (n.*483C>T) c.1158C>T (p.Ile386=) c.1320C>T (p.Ile440=) | |
| X | g.50086622A>C | CA413185638 | CLCN5 | c.1309A>C (p.Thr437Pro) c.559A>C (p.Thr187Pro) c.1099A>C (p.Thr367Pro) c.1596A>C c.*484A>C (n.*484A>C) c.1159A>C (p.Thr387Pro) c.1321A>C (p.Thr441Pro) | |
| X | g.50086622A>G | CA413185639 | CLCN5 | c.1309A>G (p.Thr437Ala) c.559A>G (p.Thr187Ala) c.1099A>G (p.Thr367Ala) c.1596A>G c.*484A>G (n.*484A>G) c.1159A>G (p.Thr387Ala) c.1321A>G (p.Thr441Ala) | |
| X | g.50086622A>T | CA413185640 | CLCN5 | c.1309A>T (p.Thr437Ser) c.559A>T (p.Thr187Ser) c.1099A>T (p.Thr367Ser) c.1596A>T c.*484A>T (n.*484A>T) c.1159A>T (p.Thr387Ser) c.1321A>T (p.Thr441Ser) | |
| X | g.50086623C>A | CA413185642 | CLCN5 | c.1310C>A (p.Thr437Asn) c.560C>A (p.Thr187Asn) c.1100C>A (p.Thr367Asn) c.1597C>A c.*485C>A (n.*485C>A) c.1160C>A (p.Thr387Asn) c.1322C>A (p.Thr441Asn) | |
| X | g.50086623C>G | CA413185643 | CLCN5 | c.1310C>G (p.Thr437Ser) c.560C>G (p.Thr187Ser) c.1100C>G (p.Thr367Ser) c.1597C>G c.*485C>G (n.*485C>G) c.1160C>G (p.Thr387Ser) c.1322C>G (p.Thr441Ser) | |
| X | g.50086623C>T | CA413185644 | CLCN5 | c.1310C>T (p.Thr437Ile) c.560C>T (p.Thr187Ile) c.1100C>T (p.Thr367Ile) c.1597C>T c.*485C>T (n.*485C>T) c.1160C>T (p.Thr387Ile) c.1322C>T (p.Thr441Ile) | |
| X | g.50086624T>A | CA516678240 | CLCN5 | c.1311T>A (p.Thr437=) c.561T>A (p.Thr187=) c.1101T>A (p.Thr367=) c.1598T>A c.*486T>A (n.*486T>A) c.1161T>A (p.Thr387=) c.1323T>A (p.Thr441=) | |
| X | g.50086624T>C | CA516678239 | CLCN5 | c.1311T>C (p.Thr437=) c.561T>C (p.Thr187=) c.1101T>C (p.Thr367=) c.1598T>C c.*486T>C (n.*486T>C) c.1161T>C (p.Thr387=) c.1323T>C (p.Thr441=) | |
| X | g.50086624T>G | CA516678238 | CLCN5 | c.1311T>G (p.Thr437=) c.561T>G (p.Thr187=) c.1101T>G (p.Thr367=) c.1598T>G c.*486T>G (n.*486T>G) c.1161T>G (p.Thr387=) c.1323T>G (p.Thr441=) | |
| X | g.50086625G>A | CA413185645 | CLCN5 | c.1312G>A (p.Ala438Thr) c.562G>A (p.Ala188Thr) c.1102G>A (p.Ala368Thr) c.1599G>A c.*487G>A (n.*487G>A) c.1162G>A (p.Ala388Thr) c.1324G>A (p.Ala442Thr) | |
| X | g.50086625G>C | CA413185646 | CLCN5 | c.1312G>C (p.Ala438Pro) c.562G>C (p.Ala188Pro) c.1102G>C (p.Ala368Pro) c.1599G>C c.*487G>C (n.*487G>C) c.1162G>C (p.Ala388Pro) c.1324G>C (p.Ala442Pro) | |
| X | g.50086625G>T | CA413185647 | CLCN5 | c.1312G>T (p.Ala438Ser) c.562G>T (p.Ala188Ser) c.1102G>T (p.Ala368Ser) c.1599G>T c.*487G>T (n.*487G>T) c.1162G>T (p.Ala388Ser) c.1324G>T (p.Ala442Ser) | |
| X | g.50086626C>A | CA413185649 | CLCN5 | c.1313C>A (p.Ala438Asp) c.563C>A (p.Ala188Asp) c.1103C>A (p.Ala368Asp) c.1600C>A c.*488C>A (n.*488C>A) c.1163C>A (p.Ala388Asp) c.1325C>A (p.Ala442Asp) | |
| X | g.50086626C>G | CA413185650 | CLCN5 | c.1313C>G (p.Ala438Gly) c.563C>G (p.Ala188Gly) c.1103C>G (p.Ala368Gly) c.1600C>G c.*488C>G (n.*488C>G) c.1163C>G (p.Ala388Gly) c.1325C>G (p.Ala442Gly) | |
| X | g.50086626C>T | CA413185648 | CLCN5 | c.1313C>T (p.Ala438Val) c.563C>T (p.Ala188Val) c.1103C>T (p.Ala368Val) c.1600C>T c.*488C>T (n.*488C>T) c.1163C>T (p.Ala388Val) c.1325C>T (p.Ala442Val) | |
| X | g.50086627C>A | CA516678250 | CLCN5 | c.1314C>A (p.Ala438=) c.564C>A (p.Ala188=) c.1104C>A (p.Ala368=) c.1601C>A c.*489C>A (n.*489C>A) c.1164C>A (p.Ala388=) c.1326C>A (p.Ala442=) | |
| X | g.50086627C>G | CA516678249 | CLCN5 | c.1314C>G (p.Ala438=) c.564C>G (p.Ala188=) c.1104C>G (p.Ala368=) c.1601C>G c.*489C>G (n.*489C>G) c.1164C>G (p.Ala388=) c.1326C>G (p.Ala442=) | |
| X | g.50086627C>T | CA516678248 | CLCN5 | c.1314C>T (p.Ala438=) c.564C>T (p.Ala188=) c.1104C>T (p.Ala368=) c.1601C>T c.*489C>T (n.*489C>T) c.1164C>T (p.Ala388=) c.1326C>T (p.Ala442=) | |
| X | g.50086628A>C | CA413185651 | CLCN5 | c.1315A>C (p.Ile439Leu) c.565A>C (p.Ile189Leu) c.1105A>C (p.Ile369Leu) c.1602A>C c.*490A>C (n.*490A>C) c.1165A>C (p.Ile389Leu) c.1327A>C (p.Ile443Leu) | |
| X | g.50086628A>G | CA413185653 | CLCN5 | c.1315A>G (p.Ile439Val) c.565A>G (p.Ile189Val) c.1105A>G (p.Ile369Val) c.1602A>G c.*490A>G (n.*490A>G) c.1165A>G (p.Ile389Val) c.1327A>G (p.Ile443Val) | |
| X | g.50086628A>T | CA413185652 | CLCN5 | c.1315A>T (p.Ile439Phe) c.565A>T (p.Ile189Phe) c.1105A>T (p.Ile369Phe) c.1602A>T c.*490A>T (n.*490A>T) c.1165A>T (p.Ile389Phe) c.1327A>T (p.Ile443Phe) | |
| X | g.50086629T>A | CA413185654 | CLCN5 | c.1316T>A (p.Ile439Asn) c.566T>A (p.Ile189Asn) c.1106T>A (p.Ile369Asn) c.1603T>A c.*491T>A (n.*491T>A) c.1166T>A (p.Ile389Asn) c.1328T>A (p.Ile443Asn) | |
| X | g.50086629T>C | CA413185655 | CLCN5 | c.1316T>C (p.Ile439Thr) c.566T>C (p.Ile189Thr) c.1106T>C (p.Ile369Thr) c.1603T>C c.*491T>C (n.*491T>C) c.1166T>C (p.Ile389Thr) c.1328T>C (p.Ile443Thr) | gnomAD v4 |
| X | g.50086629T>G | CA413185656 | CLCN5 | c.1316T>G (p.Ile439Ser) c.566T>G (p.Ile189Ser) c.1106T>G (p.Ile369Ser) c.1603T>G c.*491T>G (n.*491T>G) c.1166T>G (p.Ile389Ser) c.1328T>G (p.Ile443Ser) | |
| X | g.50086630C>A | CA516678258 | CLCN5 | c.1317C>A (p.Ile439=) c.567C>A (p.Ile189=) c.1107C>A (p.Ile369=) c.1604C>A c.*492C>A (n.*492C>A) c.1167C>A (p.Ile389=) c.1329C>A (p.Ile443=) | |
| X | g.50086630C= | CA2428768926 | CLCN5 | c.1317C= (p.Ile439=) c.567C= (p.Ile189=) c.1107C= (p.Ile369=) c.1604C= c.*492C= (n.*492C=) c.1167C= (p.Ile389=) c.1329C= (p.Ile443=) | |
| X | g.50086630C>G | CA413185657 | CLCN5 | c.1317C>G (p.Ile439Met) c.567C>G (p.Ile189Met) c.1107C>G (p.Ile369Met) c.1604C>G c.*492C>G (n.*492C>G) c.1167C>G (p.Ile389Met) c.1329C>G (p.Ile443Met) | |
| X | g.50086630C>T | CA10413862 | CLCN5 | c.1317C>T (p.Ile439=) c.567C>T (p.Ile189=) c.1107C>T (p.Ile369=) c.1604C>T c.*492C>T (n.*492C>T) c.1167C>T (p.Ile389=) c.1329C>T (p.Ile443=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086631C>A | CA413185658 | CLCN5 | c.1318C>A (p.Leu440Met) c.568C>A (p.Leu190Met) c.1108C>A (p.Leu370Met) c.1605C>A c.*493C>A (n.*493C>A) c.1168C>A (p.Leu390Met) c.1330C>A (p.Leu444Met) | |
| X | g.50086631C>G | CA413185659 | CLCN5 | c.1318C>G (p.Leu440Val) c.568C>G (p.Leu190Val) c.1108C>G (p.Leu370Val) c.1605C>G c.*493C>G (n.*493C>G) c.1168C>G (p.Leu390Val) c.1330C>G (p.Leu444Val) | |
| X | g.50086631C>T | CA516678270 | CLCN5 | c.1318C>T (p.Leu440=) c.568C>T (p.Leu190=) c.1108C>T (p.Leu370=) c.1605C>T c.*493C>T (n.*493C>T) c.1168C>T (p.Leu390=) c.1330C>T (p.Leu444=) | |
| X | g.50086632T>A | CA413185660 | CLCN5 | c.1319T>A (p.Leu440Gln) c.569T>A (p.Leu190Gln) c.1109T>A (p.Leu370Gln) c.1606T>A c.*494T>A (n.*494T>A) c.1169T>A (p.Leu390Gln) c.1331T>A (p.Leu444Gln) | |
| X | g.50086632T>C | CA413185661 | CLCN5 | c.1319T>C (p.Leu440Pro) c.569T>C (p.Leu190Pro) c.1109T>C (p.Leu370Pro) c.1606T>C c.*494T>C (n.*494T>C) c.1169T>C (p.Leu390Pro) c.1331T>C (p.Leu444Pro) | |
| X | g.50086632T>G | CA413185662 | CLCN5 | c.1319T>G (p.Leu440Arg) c.569T>G (p.Leu190Arg) c.1109T>G (p.Leu370Arg) c.1606T>G c.*494T>G (n.*494T>G) c.1169T>G (p.Leu390Arg) c.1331T>G (p.Leu444Arg) | |
| X | g.50086633G>A | CA516678276 | CLCN5 | c.1320G>A (p.Leu440=) c.570G>A (p.Leu190=) c.1110G>A (p.Leu370=) c.1607G>A c.*495G>A (n.*495G>A) c.1170G>A (p.Leu390=) c.1332G>A (p.Leu444=) | |
| X | g.50086633G>C | CA516678282 | CLCN5 | c.1320G>C (p.Leu440=) c.570G>C (p.Leu190=) c.1110G>C (p.Leu370=) c.1607G>C c.*495G>C (n.*495G>C) c.1170G>C (p.Leu390=) c.1332G>C (p.Leu444=) | |
| X | g.50086633G>T | CA516678284 | CLCN5 | c.1320G>T (p.Leu440=) c.570G>T (p.Leu190=) c.1110G>T (p.Leu370=) c.1607G>T c.*495G>T (n.*495G>T) c.1170G>T (p.Leu390=) c.1332G>T (p.Leu444=) | |
| X | g.50086634G>A | CA413185663 | CLCN5 | c.1321G>A (p.Ala441Thr) c.571G>A (p.Ala191Thr) c.1111G>A (p.Ala371Thr) c.1608G>A c.*496G>A (n.*496G>A) c.1171G>A (p.Ala391Thr) c.1333G>A (p.Ala445Thr) | |
| X | g.50086634G>C | CA413185664 | CLCN5 | c.1321G>C (p.Ala441Pro) c.571G>C (p.Ala191Pro) c.1111G>C (p.Ala371Pro) c.1608G>C c.*496G>C (n.*496G>C) c.1171G>C (p.Ala391Pro) c.1333G>C (p.Ala445Pro) | |
| X | g.50086634G>T | CA413185665 | CLCN5 | c.1321G>T (p.Ala441Ser) c.571G>T (p.Ala191Ser) c.1111G>T (p.Ala371Ser) c.1608G>T c.*496G>T (n.*496G>T) c.1171G>T (p.Ala391Ser) c.1333G>T (p.Ala445Ser) | |
| X | g.50086635C>A | CA413185668 | CLCN5 | c.1322C>A (p.Ala441Asp) c.572C>A (p.Ala191Asp) c.1112C>A (p.Ala371Asp) c.1609C>A c.*497C>A (n.*497C>A) c.1172C>A (p.Ala391Asp) c.1334C>A (p.Ala445Asp) | COSMIC COSMIC |
| X | g.50086635C>G | CA413185667 | CLCN5 | c.1322C>G (p.Ala441Gly) c.572C>G (p.Ala191Gly) c.1112C>G (p.Ala371Gly) c.1609C>G c.*497C>G (n.*497C>G) c.1172C>G (p.Ala391Gly) c.1334C>G (p.Ala445Gly) | |
| X | g.50086635C>T | CA413185666 | CLCN5 | c.1322C>T (p.Ala441Val) c.572C>T (p.Ala191Val) c.1112C>T (p.Ala371Val) c.1609C>T c.*497C>T (n.*497C>T) c.1172C>T (p.Ala391Val) c.1334C>T (p.Ala445Val) | |
| X | g.50086636T>A | CA516678294 | CLCN5 | c.1323T>A (p.Ala441=) c.573T>A (p.Ala191=) c.1113T>A (p.Ala371=) c.1610T>A c.*498T>A (n.*498T>A) c.1173T>A (p.Ala391=) c.1335T>A (p.Ala445=) | |
| X | g.50086636T>C | CA516678297 | CLCN5 | c.1323T>C (p.Ala441=) c.573T>C (p.Ala191=) c.1113T>C (p.Ala371=) c.1610T>C c.*498T>C (n.*498T>C) c.1173T>C (p.Ala391=) c.1335T>C (p.Ala445=) | |
| X | g.50086636T>G | CA516678296 | CLCN5 | c.1323T>G (p.Ala441=) c.573T>G (p.Ala191=) c.1113T>G (p.Ala371=) c.1610T>G c.*498T>G (n.*498T>G) c.1173T>G (p.Ala391=) c.1335T>G (p.Ala445=) | |
| X | g.50086637T>A | CA413185669 | CLCN5 | c.1324T>A (p.Phe442Ile) c.574T>A (p.Phe192Ile) c.1114T>A (p.Phe372Ile) c.1611T>A c.*499T>A (n.*499T>A) c.1174T>A (p.Phe392Ile) c.1336T>A (p.Phe446Ile) | |
| X | g.50086637T>C | CA413185670 | CLCN5 | c.1324T>C (p.Phe442Leu) c.574T>C (p.Phe192Leu) c.1114T>C (p.Phe372Leu) c.1611T>C c.*499T>C (n.*499T>C) c.1174T>C (p.Phe392Leu) c.1336T>C (p.Phe446Leu) | |
| X | g.50086637T>G | CA413185671 | CLCN5 | c.1324T>G (p.Phe442Val) c.574T>G (p.Phe192Val) c.1114T>G (p.Phe372Val) c.1611T>G c.*499T>G (n.*499T>G) c.1174T>G (p.Phe392Val) c.1336T>G (p.Phe446Val) | |
| X | g.50086638T>A | CA413185672 | CLCN5 | c.1325T>A (p.Phe442Tyr) c.575T>A (p.Phe192Tyr) c.1115T>A (p.Phe372Tyr) c.1612T>A c.*500T>A (n.*500T>A) c.1175T>A (p.Phe392Tyr) c.1337T>A (p.Phe446Tyr) | |
| X | g.50086638T>C | CA413185673 | CLCN5 | c.1325T>C (p.Phe442Ser) c.575T>C (p.Phe192Ser) c.1115T>C (p.Phe372Ser) c.1612T>C c.*500T>C (n.*500T>C) c.1175T>C (p.Phe392Ser) c.1337T>C (p.Phe446Ser) | |
| X | g.50086638T>G | CA413185674 | CLCN5 | c.1325T>G (p.Phe442Cys) c.575T>G (p.Phe192Cys) c.1115T>G (p.Phe372Cys) c.1612T>G c.*500T>G (n.*500T>G) c.1175T>G (p.Phe392Cys) c.1337T>G (p.Phe446Cys) | |
| X | g.50086638T= | CA2428768927 | CLCN5 | c.1325T= (p.Phe442=) c.575T= (p.Phe192=) c.1115T= (p.Phe372=) c.1612T= c.*500T= (n.*500T=) c.1175T= (p.Phe392=) c.1337T= (p.Phe446=) | |
| X | g.50086639C>A | CA413185675 | CLCN5 | c.1326C>A (p.Phe442Leu) c.576C>A (p.Phe192Leu) c.1116C>A (p.Phe372Leu) c.1613C>A c.*501C>A (n.*501C>A) c.1176C>A (p.Phe392Leu) c.1338C>A (p.Phe446Leu) | |
| X | g.50086639C= | CA2428768928 | CLCN5 | c.1326C= (p.Phe442=) c.576C= (p.Phe192=) c.1116C= (p.Phe372=) c.1613C= c.*501C= (n.*501C=) c.1176C= (p.Phe392=) c.1338C= (p.Phe446=) | |
| X | g.50086639C>G | CA413185676 | CLCN5 | c.1326C>G (p.Phe442Leu) c.576C>G (p.Phe192Leu) c.1116C>G (p.Phe372Leu) c.1613C>G c.*501C>G (n.*501C>G) c.1176C>G (p.Phe392Leu) c.1338C>G (p.Phe446Leu) | |
| X | g.50086639C>T | CA516678308 | CLCN5 | c.1326C>T (p.Phe442=) c.576C>T (p.Phe192=) c.1116C>T (p.Phe372=) c.1613C>T c.*501C>T (n.*501C>T) c.1176C>T (p.Phe392=) c.1338C>T (p.Phe446=) | dbSNP |
| X | g.50086642dup | CA1139667544 | CLCN5 | c.1329dup (p.Asn444GlnfsTer2) c.579dup (p.Asn194GlnfsTer2) c.1119dup (p.Asn374GlnfsTer2) c.1616dup c.*504dup (n.*504dup) c.1179dup (p.Asn394GlnfsTer2) c.1341dup (p.Asn448GlnfsTer2) | ClinVar dbSNP |
| X | g.50086640C>A | CA413185677 | CLCN5 | c.1327C>A (p.Pro443Thr) c.577C>A (p.Pro193Thr) c.1117C>A (p.Pro373Thr) c.1614C>A c.*502C>A (n.*502C>A) c.1177C>A (p.Pro393Thr) c.1339C>A (p.Pro447Thr) | |
| X | g.50086640C>G | CA413185678 | CLCN5 | c.1327C>G (p.Pro443Ala) c.577C>G (p.Pro193Ala) c.1117C>G (p.Pro373Ala) c.1614C>G c.*502C>G (n.*502C>G) c.1177C>G (p.Pro393Ala) c.1339C>G (p.Pro447Ala) | |
| X | g.50086640C>T | CA413185679 | CLCN5 | c.1327C>T (p.Pro443Ser) c.577C>T (p.Pro193Ser) c.1117C>T (p.Pro373Ser) c.1614C>T c.*502C>T (n.*502C>T) c.1177C>T (p.Pro393Ser) c.1339C>T (p.Pro447Ser) | gnomAD v4 |
| X | g.50086641C>A | CA413185680 | CLCN5 | c.1328C>A (p.Pro443His) c.578C>A (p.Pro193His) c.1118C>A (p.Pro373His) c.1615C>A c.*503C>A (n.*503C>A) c.1178C>A (p.Pro393His) c.1340C>A (p.Pro447His) | |
| X | g.50086641C>G | CA413185681 | CLCN5 | c.1328C>G (p.Pro443Arg) c.578C>G (p.Pro193Arg) c.1118C>G (p.Pro373Arg) c.1615C>G c.*503C>G (n.*503C>G) c.1178C>G (p.Pro393Arg) c.1340C>G (p.Pro447Arg) | |
| X | g.50086641C>T | CA413185683 | CLCN5 | c.1328C>T (p.Pro443Leu) c.578C>T (p.Pro193Leu) c.1118C>T (p.Pro373Leu) c.1615C>T c.*503C>T (n.*503C>T) c.1178C>T (p.Pro393Leu) c.1340C>T (p.Pro447Leu) | gnomAD v4 |
| X | g.50086642C>A | CA516678313 | CLCN5 | c.1329C>A (p.Pro443=) c.579C>A (p.Pro193=) c.1119C>A (p.Pro373=) c.1616C>A c.*504C>A (n.*504C>A) c.1179C>A (p.Pro393=) c.1341C>A (p.Pro447=) | |
| X | g.50086642C>G | CA516678315 | CLCN5 | c.1329C>G (p.Pro443=) c.579C>G (p.Pro193=) c.1119C>G (p.Pro373=) c.1616C>G c.*504C>G (n.*504C>G) c.1179C>G (p.Pro393=) c.1341C>G (p.Pro447=) | |
| X | g.50086642C>T | CA516678316 | CLCN5 | c.1329C>T (p.Pro443=) c.579C>T (p.Pro193=) c.1119C>T (p.Pro373=) c.1616C>T c.*504C>T (n.*504C>T) c.1179C>T (p.Pro393=) c.1341C>T (p.Pro447=) | |
| X | g.50086643A>C | CA413185687 | CLCN5 | c.1330A>C (p.Asn444His) c.580A>C (p.Asn194His) c.1120A>C (p.Asn374His) c.1617A>C c.*505A>C (n.*505A>C) c.1180A>C (p.Asn394His) c.1342A>C (p.Asn448His) | |
| X | g.50086643A>G | CA413185689 | CLCN5 | c.1330A>G (p.Asn444Asp) c.580A>G (p.Asn194Asp) c.1120A>G (p.Asn374Asp) c.1617A>G c.*505A>G (n.*505A>G) c.1180A>G (p.Asn394Asp) c.1342A>G (p.Asn448Asp) | |
| X | g.50086643A>T | CA413185685 | CLCN5 | c.1330A>T (p.Asn444Tyr) c.580A>T (p.Asn194Tyr) c.1120A>T (p.Asn374Tyr) c.1617A>T c.*505A>T (n.*505A>T) c.1180A>T (p.Asn394Tyr) c.1342A>T (p.Asn448Tyr) | |
| X | g.50086644A= | CA2428768929 | CLCN5 | c.1331A= (p.Asn444=) c.581A= (p.Asn194=) c.1121A= (p.Asn374=) c.1618A= c.*506A= (n.*506A=) c.1181A= (p.Asn394=) c.1343A= (p.Asn448=) | |
| X | g.50086644A>C | CA413185691 | CLCN5 | c.1331A>C (p.Asn444Thr) c.581A>C (p.Asn194Thr) c.1121A>C (p.Asn374Thr) c.1618A>C c.*506A>C (n.*506A>C) c.1181A>C (p.Asn394Thr) c.1343A>C (p.Asn448Thr) | |
| X | g.50086644A>G | CA10413863 | CLCN5 | c.1331A>G (p.Asn444Ser) c.581A>G (p.Asn194Ser) c.1121A>G (p.Asn374Ser) c.1618A>G c.*506A>G (n.*506A>G) c.1181A>G (p.Asn394Ser) c.1343A>G (p.Asn448Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086644A>T | CA413185694 | CLCN5 | c.1331A>T (p.Asn444Ile) c.581A>T (p.Asn194Ile) c.1121A>T (p.Asn374Ile) c.1618A>T c.*506A>T (n.*506A>T) c.1181A>T (p.Asn394Ile) c.1343A>T (p.Asn448Ile) | |
| X | g.50086645T>A | CA413185696 | CLCN5 | c.1332T>A (p.Asn444Lys) c.582T>A (p.Asn194Lys) c.1122T>A (p.Asn374Lys) c.1619T>A c.*507T>A (n.*507T>A) c.1182T>A (p.Asn394Lys) c.1344T>A (p.Asn448Lys) | |
| X | g.50086645T>C | CA516678328 | CLCN5 | c.1332T>C (p.Asn444=) c.582T>C (p.Asn194=) c.1122T>C (p.Asn374=) c.1619T>C c.*507T>C (n.*507T>C) c.1182T>C (p.Asn394=) c.1344T>C (p.Asn448=) | |
| X | g.50086645T>G | CA413185698 | CLCN5 | c.1332T>G (p.Asn444Lys) c.582T>G (p.Asn194Lys) c.1122T>G (p.Asn374Lys) c.1619T>G c.*507T>G (n.*507T>G) c.1182T>G (p.Asn394Lys) c.1344T>G (p.Asn448Lys) | |
| X | g.50086646G>A | CA413185700 | CLCN5 | c.1333G>A (p.Glu445Lys) c.583G>A (p.Glu195Lys) c.1123G>A (p.Glu375Lys) c.1620G>A c.*508G>A (n.*508G>A) c.1183G>A (p.Glu395Lys) c.1345G>A (p.Glu449Lys) | gnomAD v4 |
| X | g.50086646G>C | CA413185702 | CLCN5 | c.1333G>C (p.Glu445Gln) c.583G>C (p.Glu195Gln) c.1123G>C (p.Glu375Gln) c.1620G>C c.*508G>C (n.*508G>C) c.1183G>C (p.Glu395Gln) c.1345G>C (p.Glu449Gln) | |
| X | g.50086646G>T | CA413185703 | CLCN5 | c.1333G>T (p.Glu445Ter) c.583G>T (p.Glu195Ter) c.1123G>T (p.Glu375Ter) c.1620G>T c.*508G>T (n.*508G>T) c.1183G>T (p.Glu395Ter) c.1345G>T (p.Glu449Ter) | |
| X | g.50086647A>C | CA413185706 | CLCN5 | c.1334A>C (p.Glu445Ala) c.584A>C (p.Glu195Ala) c.1124A>C (p.Glu375Ala) c.1621A>C c.*509A>C (n.*509A>C) c.1184A>C (p.Glu395Ala) c.1346A>C (p.Glu449Ala) | |
| X | g.50086647A>G | CA413185708 | CLCN5 | c.1334A>G (p.Glu445Gly) c.584A>G (p.Glu195Gly) c.1124A>G (p.Glu375Gly) c.1621A>G c.*509A>G (n.*509A>G) c.1184A>G (p.Glu395Gly) c.1346A>G (p.Glu449Gly) | |
| X | g.50086647A>T | CA413185710 | CLCN5 | c.1334A>T (p.Glu445Val) c.584A>T (p.Glu195Val) c.1124A>T (p.Glu375Val) c.1621A>T c.*509A>T (n.*509A>T) c.1184A>T (p.Glu395Val) c.1346A>T (p.Glu449Val) | |
| X | g.50086648A>C | CA413185712 | CLCN5 | c.1335A>C (p.Glu445Asp) c.585A>C (p.Glu195Asp) c.1125A>C (p.Glu375Asp) c.1622A>C c.*510A>C (n.*510A>C) c.1185A>C (p.Glu395Asp) c.1347A>C (p.Glu449Asp) | |
| X | g.50086648A>G | CA516678341 | CLCN5 | c.1335A>G (p.Glu445=) c.585A>G (p.Glu195=) c.1125A>G (p.Glu375=) c.1622A>G c.*510A>G (n.*510A>G) c.1185A>G (p.Glu395=) c.1347A>G (p.Glu449=) | |
| X | g.50086648A>T | CA413185714 | CLCN5 | c.1335A>T (p.Glu445Asp) c.585A>T (p.Glu195Asp) c.1125A>T (p.Glu375Asp) c.1622A>T c.*510A>T (n.*510A>T) c.1185A>T (p.Glu395Asp) c.1347A>T (p.Glu449Asp) | |
| X | g.50086649del | CA2695233685 | CLCN5 | c.1336del (p.Tyr446ThrfsTer4) c.586del (p.Tyr196ThrfsTer4) c.1126del (p.Tyr376ThrfsTer4) c.1623del c.*511del (n.*511del) c.1186del (p.Tyr396ThrfsTer4) c.1348del (p.Tyr450ThrfsTer4) | |
| X | g.50086649T>A | CA413185720 | CLCN5 | c.1336T>A (p.Tyr446Asn) c.586T>A (p.Tyr196Asn) c.1126T>A (p.Tyr376Asn) c.1623T>A c.*511T>A (n.*511T>A) c.1186T>A (p.Tyr396Asn) c.1348T>A (p.Tyr450Asn) | |
| X | g.50086649T>C | CA413185717 | CLCN5 | c.1336T>C (p.Tyr446His) c.586T>C (p.Tyr196His) c.1126T>C (p.Tyr376His) c.1623T>C c.*511T>C (n.*511T>C) c.1186T>C (p.Tyr396His) c.1348T>C (p.Tyr450His) | |
| X | g.50086649T>G | CA413185718 | CLCN5 | c.1336T>G (p.Tyr446Asp) c.586T>G (p.Tyr196Asp) c.1126T>G (p.Tyr376Asp) c.1623T>G c.*511T>G (n.*511T>G) c.1186T>G (p.Tyr396Asp) c.1348T>G (p.Tyr450Asp) | |
| X | g.50086650A>C | CA413185722 | CLCN5 | c.1337A>C (p.Tyr446Ser) c.587A>C (p.Tyr196Ser) c.1127A>C (p.Tyr376Ser) c.1624A>C c.*512A>C (n.*512A>C) c.1187A>C (p.Tyr396Ser) c.1349A>C (p.Tyr450Ser) | |
| X | g.50086650A>G | CA413185724 | CLCN5 | c.1337A>G (p.Tyr446Cys) c.587A>G (p.Tyr196Cys) c.1127A>G (p.Tyr376Cys) c.1624A>G c.*512A>G (n.*512A>G) c.1187A>G (p.Tyr396Cys) c.1349A>G (p.Tyr450Cys) | |
| X | g.50086650A>T | CA413185725 | CLCN5 | c.1337A>T (p.Tyr446Phe) c.587A>T (p.Tyr196Phe) c.1127A>T (p.Tyr376Phe) c.1624A>T c.*512A>T (n.*512A>T) c.1187A>T (p.Tyr396Phe) c.1349A>T (p.Tyr450Phe) | |
| X | g.50086651C>A | CA413185727 | CLCN5 | c.1338C>A (p.Tyr446Ter) c.588C>A (p.Tyr196Ter) c.1128C>A (p.Tyr376Ter) c.1625C>A c.*513C>A (n.*513C>A) c.1188C>A (p.Tyr396Ter) c.1350C>A (p.Tyr450Ter) | |
| X | g.50086651C= | CA2428768930 | CLCN5 | c.1338C= (p.Tyr446=) c.588C= (p.Tyr196=) c.1128C= (p.Tyr376=) c.1625C= c.*513C= (n.*513C=) c.1188C= (p.Tyr396=) c.1350C= (p.Tyr450=) | |
| X | g.50086651C>G | CA413185729 | CLCN5 | c.1338C>G (p.Tyr446Ter) c.588C>G (p.Tyr196Ter) c.1128C>G (p.Tyr376Ter) c.1625C>G c.*513C>G (n.*513C>G) c.1188C>G (p.Tyr396Ter) c.1350C>G (p.Tyr450Ter) | |
| X | g.50086651C>T | CA516678346 | CLCN5 | c.1338C>T (p.Tyr446=) c.588C>T (p.Tyr196=) c.1128C>T (p.Tyr376=) c.1625C>T c.*513C>T (n.*513C>T) c.1188C>T (p.Tyr396=) c.1350C>T (p.Tyr450=) | dbSNP |
| X | g.50086652A>C | CA413185732 | CLCN5 | c.1339A>C (p.Thr447Pro) c.589A>C (p.Thr197Pro) c.1129A>C (p.Thr377Pro) c.1626A>C c.*514A>C (n.*514A>C) c.1189A>C (p.Thr397Pro) c.1351A>C (p.Thr451Pro) | |
| X | g.50086652A>G | CA413185733 | CLCN5 | c.1339A>G (p.Thr447Ala) c.589A>G (p.Thr197Ala) c.1129A>G (p.Thr377Ala) c.1626A>G c.*514A>G (n.*514A>G) c.1189A>G (p.Thr397Ala) c.1351A>G (p.Thr451Ala) | gnomAD v4 |
| X | g.50086652A>T | CA413185735 | CLCN5 | c.1339A>T (p.Thr447Ser) c.589A>T (p.Thr197Ser) c.1129A>T (p.Thr377Ser) c.1626A>T c.*514A>T (n.*514A>T) c.1189A>T (p.Thr397Ser) c.1351A>T (p.Thr451Ser) | |
| X | g.50086653C>A | CA413185737 | CLCN5 | c.1340C>A (p.Thr447Asn) c.590C>A (p.Thr197Asn) c.1130C>A (p.Thr377Asn) c.1627C>A c.*515C>A (n.*515C>A) c.1190C>A (p.Thr397Asn) c.1352C>A (p.Thr451Asn) | |
| X | g.50086653C>G | CA413185739 | CLCN5 | c.1340C>G (p.Thr447Ser) c.590C>G (p.Thr197Ser) c.1130C>G (p.Thr377Ser) c.1627C>G c.*515C>G (n.*515C>G) c.1190C>G (p.Thr397Ser) c.1352C>G (p.Thr451Ser) | |
| X | g.50086653C>T | CA413185741 | CLCN5 | c.1340C>T (p.Thr447Ile) c.590C>T (p.Thr197Ile) c.1130C>T (p.Thr377Ile) c.1627C>T c.*515C>T (n.*515C>T) c.1190C>T (p.Thr397Ile) c.1352C>T (p.Thr451Ile) | |
| X | g.50086654T>A | CA516678349 | CLCN5 | c.1341T>A (p.Thr447=) c.591T>A (p.Thr197=) c.1131T>A (p.Thr377=) c.1628T>A c.*516T>A (n.*516T>A) c.1191T>A (p.Thr397=) c.1353T>A (p.Thr451=) | |
| X | g.50086654T>C | CA329782444 | CLCN5 | c.1341T>C (p.Thr447=) c.591T>C (p.Thr197=) c.1131T>C (p.Thr377=) c.1628T>C c.*516T>C (n.*516T>C) c.1191T>C (p.Thr397=) c.1353T>C (p.Thr451=) | dbSNP gnomAD v4 |
| X | g.50086654T>G | CA516678352 | CLCN5 | c.1341T>G (p.Thr447=) c.591T>G (p.Thr197=) c.1131T>G (p.Thr377=) c.1628T>G c.*516T>G (n.*516T>G) c.1191T>G (p.Thr397=) c.1353T>G (p.Thr451=) | |
| X | g.50086654T= | CA2428768931 | CLCN5 | c.1341T= (p.Thr447=) c.591T= (p.Thr197=) c.1131T= (p.Thr377=) c.1628T= c.*516T= (n.*516T=) c.1191T= (p.Thr397=) c.1353T= (p.Thr451=) | |
| X | g.50086655C>A | CA516678353 | CLCN5 | c.1342C>A (p.Arg448=) c.592C>A (p.Arg198=) c.1132C>A (p.Arg378=) c.1629C>A c.*517C>A (n.*517C>A) c.1192C>A (p.Arg398=) c.1354C>A (p.Arg452=) | |
| X | g.50086655C= | CA2428768932 | CLCN5 | c.1342C= (p.Arg448=) c.592C= (p.Arg198=) c.1132C= (p.Arg378=) c.1629C= c.*517C= (n.*517C=) c.1192C= (p.Arg398=) c.1354C= (p.Arg452=) | |
| X | g.50086655C>G | CA413185744 | CLCN5 | c.1342C>G (p.Arg448Gly) c.592C>G (p.Arg198Gly) c.1132C>G (p.Arg378Gly) c.1629C>G c.*517C>G (n.*517C>G) c.1192C>G (p.Arg398Gly) c.1354C>G (p.Arg452Gly) | |
| X | g.50086655C>T | CA413185746 | CLCN5 | c.1342C>T (p.Arg448Trp) c.592C>T (p.Arg198Trp) c.1132C>T (p.Arg378Trp) c.1629C>T c.*517C>T (n.*517C>T) c.1192C>T (p.Arg398Trp) c.1354C>T (p.Arg452Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086656G>A | CA10413864 | CLCN5 | c.1343G>A (p.Arg448Gln) c.593G>A (p.Arg198Gln) c.1133G>A (p.Arg378Gln) c.1630G>A c.*518G>A (n.*518G>A) c.1193G>A (p.Arg398Gln) c.1355G>A (p.Arg452Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.50086656G>C | CA413185750 | CLCN5 | c.1343G>C (p.Arg448Pro) c.593G>C (p.Arg198Pro) c.1133G>C (p.Arg378Pro) c.1630G>C c.*518G>C (n.*518G>C) c.1193G>C (p.Arg398Pro) c.1355G>C (p.Arg452Pro) | |
| X | g.50086656G= | CA2428768933 | CLCN5 | c.1343G= (p.Arg448=) c.593G= (p.Arg198=) c.1133G= (p.Arg378=) c.1630G= c.*518G= (n.*518G=) c.1193G= (p.Arg398=) c.1355G= (p.Arg452=) | |
| X | g.50086656G>T | CA413185748 | CLCN5 | c.1343G>T (p.Arg448Leu) c.593G>T (p.Arg198Leu) c.1133G>T (p.Arg378Leu) c.1630G>T c.*518G>T (n.*518G>T) c.1193G>T (p.Arg398Leu) c.1355G>T (p.Arg452Leu) | gnomAD v4 |
| X | g.50086657G>A | CA516678358 | CLCN5 | c.1344G>A (p.Arg448=) c.594G>A (p.Arg198=) c.1134G>A (p.Arg378=) c.1631G>A c.*519G>A (n.*519G>A) c.1194G>A (p.Arg398=) c.1356G>A (p.Arg452=) | |
| X | g.50086657G>C | CA516678359 | CLCN5 | c.1344G>C (p.Arg448=) c.594G>C (p.Arg198=) c.1134G>C (p.Arg378=) c.1631G>C c.*519G>C (n.*519G>C) c.1194G>C (p.Arg398=) c.1356G>C (p.Arg452=) | |
| X | g.50086657G>T | CA516678357 | CLCN5 | c.1344G>T (p.Arg448=) c.594G>T (p.Arg198=) c.1134G>T (p.Arg378=) c.1631G>T c.*519G>T (n.*519G>T) c.1194G>T (p.Arg398=) c.1356G>T (p.Arg452=) | |
| X | g.50086658A>C | CA413185753 | CLCN5 | c.1345A>C (p.Met449Leu) c.595A>C (p.Met199Leu) c.1135A>C (p.Met379Leu) c.1632A>C c.*520A>C (n.*520A>C) c.1195A>C (p.Met399Leu) c.1357A>C (p.Met453Leu) | |
| X | g.50086658A>G | CA413185754 | CLCN5 | c.1345A>G (p.Met449Val) c.595A>G (p.Met199Val) c.1135A>G (p.Met379Val) c.1632A>G c.*520A>G (n.*520A>G) c.1195A>G (p.Met399Val) c.1357A>G (p.Met453Val) | |
| X | g.50086658A>T | CA413185756 | CLCN5 | c.1345A>T (p.Met449Leu) c.595A>T (p.Met199Leu) c.1135A>T (p.Met379Leu) c.1632A>T c.*520A>T (n.*520A>T) c.1195A>T (p.Met399Leu) c.1357A>T (p.Met453Leu) | |
| X | g.50086659T>A | CA413185759 | CLCN5 | c.1346T>A (p.Met449Lys) c.596T>A (p.Met199Lys) c.1136T>A (p.Met379Lys) c.1633T>A c.*521T>A (n.*521T>A) c.1196T>A (p.Met399Lys) c.1358T>A (p.Met453Lys) | gnomAD v4 |
| X | g.50086659T>C | CA413185760 | CLCN5 | c.1346T>C (p.Met449Thr) c.596T>C (p.Met199Thr) c.1136T>C (p.Met379Thr) c.1633T>C c.*521T>C (n.*521T>C) c.1196T>C (p.Met399Thr) c.1358T>C (p.Met453Thr) | |
| X | g.50086659T>G | CA413185762 | CLCN5 | c.1346T>G (p.Met449Arg) c.596T>G (p.Met199Arg) c.1136T>G (p.Met379Arg) c.1633T>G c.*521T>G (n.*521T>G) c.1196T>G (p.Met399Arg) c.1358T>G (p.Met453Arg) | |
| X | g.50086660G>A | CA413185765 | CLCN5 | c.1347G>A (p.Met449Ile) c.597G>A (p.Met199Ile) c.1137G>A (p.Met379Ile) c.1634G>A c.*522G>A (n.*522G>A) c.1197G>A (p.Met399Ile) c.1359G>A (p.Met453Ile) | |
| X | g.50086660G>C | CA413185766 | CLCN5 | c.1347G>C (p.Met449Ile) c.597G>C (p.Met199Ile) c.1137G>C (p.Met379Ile) c.1634G>C c.*522G>C (n.*522G>C) c.1197G>C (p.Met399Ile) c.1359G>C (p.Met453Ile) | |
| X | g.50086660G>T | CA413185768 | CLCN5 | c.1347G>T (p.Met449Ile) c.597G>T (p.Met199Ile) c.1137G>T (p.Met379Ile) c.1634G>T c.*522G>T (n.*522G>T) c.1197G>T (p.Met399Ile) c.1359G>T (p.Met453Ile) | |
| X | g.50086661A>C | CA413185770 | CLCN5 | c.1348A>C (p.Ser450Arg) c.598A>C (p.Ser200Arg) c.1138A>C (p.Ser380Arg) c.1635A>C c.*523A>C (n.*523A>C) c.1198A>C (p.Ser400Arg) c.1360A>C (p.Ser454Arg) | |
| X | g.50086661A>G | CA413185772 | CLCN5 | c.1348A>G (p.Ser450Gly) c.598A>G (p.Ser200Gly) c.1138A>G (p.Ser380Gly) c.1635A>G c.*523A>G (n.*523A>G) c.1198A>G (p.Ser400Gly) c.1360A>G (p.Ser454Gly) | gnomAD v4 |
| X | g.50086661A>T | CA413185774 | CLCN5 | c.1348A>T (p.Ser450Cys) c.598A>T (p.Ser200Cys) c.1138A>T (p.Ser380Cys) c.1635A>T c.*523A>T (n.*523A>T) c.1198A>T (p.Ser400Cys) c.1360A>T (p.Ser454Cys) | |
| X | g.50086662G>A | CA413185780 | CLCN5 | c.1349G>A (p.Ser450Asn) c.599G>A (p.Ser200Asn) c.1139G>A (p.Ser380Asn) c.1636G>A c.*524G>A (n.*524G>A) c.1199G>A (p.Ser400Asn) c.1361G>A (p.Ser454Asn) | |
| X | g.50086662G>C | CA413185776 | CLCN5 | c.1349G>C (p.Ser450Thr) c.599G>C (p.Ser200Thr) c.1139G>C (p.Ser380Thr) c.1636G>C c.*524G>C (n.*524G>C) c.1199G>C (p.Ser400Thr) c.1361G>C (p.Ser454Thr) | |
| X | g.50086662G>T | CA413185778 | CLCN5 | c.1349G>T (p.Ser450Ile) c.599G>T (p.Ser200Ile) c.1139G>T (p.Ser380Ile) c.1636G>T c.*524G>T (n.*524G>T) c.1199G>T (p.Ser400Ile) c.1361G>T (p.Ser454Ile) | |
| X | g.50086663C>A | CA413185781 | CLCN5 | c.1350C>A (p.Ser450Arg) c.600C>A (p.Ser200Arg) c.1140C>A (p.Ser380Arg) c.1637C>A c.*525C>A (n.*525C>A) c.1200C>A (p.Ser400Arg) c.1362C>A (p.Ser454Arg) | |
| X | g.50086663C>G | CA413185783 | CLCN5 | c.1350C>G (p.Ser450Arg) c.600C>G (p.Ser200Arg) c.1140C>G (p.Ser380Arg) c.1637C>G c.*525C>G (n.*525C>G) c.1200C>G (p.Ser400Arg) c.1362C>G (p.Ser454Arg) | |
| X | g.50086663C>T | CA516678372 | CLCN5 | c.1350C>T (p.Ser450=) c.600C>T (p.Ser200=) c.1140C>T (p.Ser380=) c.1637C>T c.*525C>T (n.*525C>T) c.1200C>T (p.Ser400=) c.1362C>T (p.Ser454=) | gnomAD v4 |
| X | g.50086664A>C | CA413185785 | CLCN5 | c.1351A>C (p.Thr451Pro) c.601A>C (p.Thr201Pro) c.1141A>C (p.Thr381Pro) c.1638A>C c.*526A>C (n.*526A>C) c.1201A>C (p.Thr401Pro) c.1363A>C (p.Thr455Pro) | |
| X | g.50086664A>G | CA413185787 | CLCN5 | c.1351A>G (p.Thr451Ala) c.601A>G (p.Thr201Ala) c.1141A>G (p.Thr381Ala) c.1638A>G c.*526A>G (n.*526A>G) c.1201A>G (p.Thr401Ala) c.1363A>G (p.Thr455Ala) | |
| X | g.50086664A>T | CA413185789 | CLCN5 | c.1351A>T (p.Thr451Ser) c.601A>T (p.Thr201Ser) c.1141A>T (p.Thr381Ser) c.1638A>T c.*526A>T (n.*526A>T) c.1201A>T (p.Thr401Ser) c.1363A>T (p.Thr455Ser) | |
| X | g.50086665C>A | CA413185791 | CLCN5 | c.1352C>A (p.Thr451Lys) c.602C>A (p.Thr201Lys) c.1142C>A (p.Thr381Lys) c.1639C>A c.*527C>A (n.*527C>A) c.1202C>A (p.Thr401Lys) c.1364C>A (p.Thr455Lys) | |
| X | g.50086665C= | CA2428768934 | CLCN5 | c.1352C= (p.Thr451=) c.602C= (p.Thr201=) c.1142C= (p.Thr381=) c.1639C= c.*527C= (n.*527C=) c.1202C= (p.Thr401=) c.1364C= (p.Thr455=) | |
| X | g.50086665C>G | CA413185793 | CLCN5 | c.1352C>G (p.Thr451Arg) c.602C>G (p.Thr201Arg) c.1142C>G (p.Thr381Arg) c.1639C>G c.*527C>G (n.*527C>G) c.1202C>G (p.Thr401Arg) c.1364C>G (p.Thr455Arg) | |
| X | g.50086665C>T | CA10413865 | CLCN5 | c.1352C>T (p.Thr451Ile) c.602C>T (p.Thr201Ile) c.1142C>T (p.Thr381Ile) c.1639C>T c.*527C>T (n.*527C>T) c.1202C>T (p.Thr401Ile) c.1364C>T (p.Thr455Ile) | dbSNP ExAC gnomAD v2 |
| X | g.50086666A= | CA2428768935 | CLCN5 | c.1353A= (p.Thr451=) c.603A= (p.Thr201=) c.1143A= (p.Thr381=) c.1640A= c.*528A= (n.*528A=) c.1203A= (p.Thr401=) c.1365A= (p.Thr455=) | |
| X | g.50086666A>C | CA516678379 | CLCN5 | c.1353A>C (p.Thr451=) c.603A>C (p.Thr201=) c.1143A>C (p.Thr381=) c.1640A>C c.*528A>C (n.*528A>C) c.1203A>C (p.Thr401=) c.1365A>C (p.Thr455=) | |
| X | g.50086666A>G | CA516678380 | CLCN5 | c.1353A>G (p.Thr451=) c.603A>G (p.Thr201=) c.1143A>G (p.Thr381=) c.1640A>G c.*528A>G (n.*528A>G) c.1203A>G (p.Thr401=) c.1365A>G (p.Thr455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086666A>T | CA516678387 | CLCN5 | c.1353A>T (p.Thr451=) c.603A>T (p.Thr201=) c.1143A>T (p.Thr381=) c.1640A>T c.*528A>T (n.*528A>T) c.1203A>T (p.Thr401=) c.1365A>T (p.Thr455=) | |
| X | g.50086667A= | CA2428768936 | CLCN5 | c.1354A= (p.Ser452=) c.604A= (p.Ser202=) c.1144A= (p.Ser382=) c.1641A= c.*529A= (n.*529A=) c.1204A= (p.Ser402=) c.1366A= (p.Ser456=) | |
| X | g.50086667A>C | CA413185796 | CLCN5 | c.1354A>C (p.Ser452Arg) c.604A>C (p.Ser202Arg) c.1144A>C (p.Ser382Arg) c.1641A>C c.*529A>C (n.*529A>C) c.1204A>C (p.Ser402Arg) c.1366A>C (p.Ser456Arg) | |
| X | g.50086667A>G | CA10413866 | CLCN5 | c.1354A>G (p.Ser452Gly) c.604A>G (p.Ser202Gly) c.1144A>G (p.Ser382Gly) c.1641A>G c.*529A>G (n.*529A>G) c.1204A>G (p.Ser402Gly) c.1366A>G (p.Ser456Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086667A>T | CA413185799 | CLCN5 | c.1354A>T (p.Ser452Cys) c.604A>T (p.Ser202Cys) c.1144A>T (p.Ser382Cys) c.1641A>T c.*529A>T (n.*529A>T) c.1204A>T (p.Ser402Cys) c.1366A>T (p.Ser456Cys) | |
| X | g.50086668G>A | CA413185803 | CLCN5 | c.1355G>A (p.Ser452Asn) c.605G>A (p.Ser202Asn) c.1145G>A (p.Ser382Asn) c.1642G>A c.*530G>A (n.*530G>A) c.1205G>A (p.Ser402Asn) c.1367G>A (p.Ser456Asn) | |
| X | g.50086668G>C | CA413185805 | CLCN5 | c.1355G>C (p.Ser452Thr) c.605G>C (p.Ser202Thr) c.1145G>C (p.Ser382Thr) c.1642G>C c.*530G>C (n.*530G>C) c.1205G>C (p.Ser402Thr) c.1367G>C (p.Ser456Thr) | |
| X | g.50086668G>T | CA413185802 | CLCN5 | c.1355G>T (p.Ser452Ile) c.605G>T (p.Ser202Ile) c.1145G>T (p.Ser382Ile) c.1642G>T c.*530G>T (n.*530G>T) c.1205G>T (p.Ser402Ile) c.1367G>T (p.Ser456Ile) | |
| X | g.50086669T>A | CA413185807 | CLCN5 | c.1356T>A (p.Ser452Arg) c.606T>A (p.Ser202Arg) c.1146T>A (p.Ser382Arg) c.1643T>A c.*531T>A (n.*531T>A) c.1206T>A (p.Ser402Arg) c.1368T>A (p.Ser456Arg) | |
| X | g.50086669T>C | CA516678392 | CLCN5 | c.1356T>C (p.Ser452=) c.606T>C (p.Ser202=) c.1146T>C (p.Ser382=) c.1643T>C c.*531T>C (n.*531T>C) c.1206T>C (p.Ser402=) c.1368T>C (p.Ser456=) | |
| X | g.50086669T>G | CA413185809 | CLCN5 | c.1356T>G (p.Ser452Arg) c.606T>G (p.Ser202Arg) c.1146T>G (p.Ser382Arg) c.1643T>G c.*531T>G (n.*531T>G) c.1206T>G (p.Ser402Arg) c.1368T>G (p.Ser456Arg) | |
| X | g.50086670G>A | CA413185812 | CLCN5 | c.1357G>A (p.Glu453Lys) c.607G>A (p.Glu203Lys) c.1147G>A (p.Glu383Lys) c.1644G>A c.*532G>A (n.*532G>A) c.1207G>A (p.Glu403Lys) c.1369G>A (p.Glu457Lys) | |
| X | g.50086670G>C | CA413185814 | CLCN5 | c.1357G>C (p.Glu453Gln) c.607G>C (p.Glu203Gln) c.1147G>C (p.Glu383Gln) c.1644G>C c.*532G>C (n.*532G>C) c.1207G>C (p.Glu403Gln) c.1369G>C (p.Glu457Gln) | |
| X | g.50086670G>T | CA413185815 | CLCN5 | c.1357G>T (p.Glu453Ter) c.607G>T (p.Glu203Ter) c.1147G>T (p.Glu383Ter) c.1644G>T c.*532G>T (n.*532G>T) c.1207G>T (p.Glu403Ter) c.1369G>T (p.Glu457Ter) | |
| X | g.50086671A>C | CA413185818 | CLCN5 | c.1358A>C (p.Glu453Ala) c.608A>C (p.Glu203Ala) c.1148A>C (p.Glu383Ala) c.1645A>C c.*533A>C (n.*533A>C) c.1208A>C (p.Glu403Ala) c.1370A>C (p.Glu457Ala) | |
| X | g.50086671A>G | CA413185820 | CLCN5 | c.1358A>G (p.Glu453Gly) c.608A>G (p.Glu203Gly) c.1148A>G (p.Glu383Gly) c.1645A>G c.*533A>G (n.*533A>G) c.1208A>G (p.Glu403Gly) c.1370A>G (p.Glu457Gly) | |
| X | g.50086671A>T | CA413185822 | CLCN5 | c.1358A>T (p.Glu453Val) c.608A>T (p.Glu203Val) c.1148A>T (p.Glu383Val) c.1645A>T c.*533A>T (n.*533A>T) c.1208A>T (p.Glu403Val) c.1370A>T (p.Glu457Val) | |
| X | g.50086672G>A | CA516678396 | CLCN5 | c.1359G>A (p.Glu453=) c.609G>A (p.Glu203=) c.1149G>A (p.Glu383=) c.1646G>A c.*534G>A (n.*534G>A) c.1209G>A (p.Glu403=) c.1371G>A (p.Glu457=) | |
| X | g.50086672G>C | CA413185824 | CLCN5 | c.1359G>C (p.Glu453Asp) c.609G>C (p.Glu203Asp) c.1149G>C (p.Glu383Asp) c.1646G>C c.*534G>C (n.*534G>C) c.1209G>C (p.Glu403Asp) c.1371G>C (p.Glu457Asp) | |
| X | g.50086672G>T | CA413185826 | CLCN5 | c.1359G>T (p.Glu453Asp) c.609G>T (p.Glu203Asp) c.1149G>T (p.Glu383Asp) c.1646G>T c.*534G>T (n.*534G>T) c.1209G>T (p.Glu403Asp) c.1371G>T (p.Glu457Asp) | |
| X | g.50086673C>A | CA413185828 | CLCN5 | c.1360C>A (p.Leu454Ile) c.610C>A (p.Leu204Ile) c.1150C>A (p.Leu384Ile) c.1647C>A c.*535C>A (n.*535C>A) c.1210C>A (p.Leu404Ile) c.1372C>A (p.Leu458Ile) | |
| X | g.50086673C>G | CA413185830 | CLCN5 | c.1360C>G (p.Leu454Val) c.610C>G (p.Leu204Val) c.1150C>G (p.Leu384Val) c.1647C>G c.*535C>G (n.*535C>G) c.1210C>G (p.Leu404Val) c.1372C>G (p.Leu458Val) | |
| X | g.50086673C>T | CA413185832 | CLCN5 | c.1360C>T (p.Leu454Phe) c.610C>T (p.Leu204Phe) c.1150C>T (p.Leu384Phe) c.1647C>T c.*535C>T (n.*535C>T) c.1210C>T (p.Leu404Phe) c.1372C>T (p.Leu458Phe) | |
| X | g.50086674T>A | CA413185838 | CLCN5 | c.1361T>A (p.Leu454His) c.611T>A (p.Leu204His) c.1151T>A (p.Leu384His) c.1648T>A c.*536T>A (n.*536T>A) c.1211T>A (p.Leu404His) c.1373T>A (p.Leu458His) | |
| X | g.50086674T>C | CA413185836 | CLCN5 | c.1361T>C (p.Leu454Pro) c.611T>C (p.Leu204Pro) c.1151T>C (p.Leu384Pro) c.1648T>C c.*536T>C (n.*536T>C) c.1211T>C (p.Leu404Pro) c.1373T>C (p.Leu458Pro) | |
| X | g.50086674T>G | CA413185834 | CLCN5 | c.1361T>G (p.Leu454Arg) c.611T>G (p.Leu204Arg) c.1151T>G (p.Leu384Arg) c.1648T>G c.*536T>G (n.*536T>G) c.1211T>G (p.Leu404Arg) c.1373T>G (p.Leu458Arg) | |
| X | g.50086675C>A | CA516678402 | CLCN5 | c.1362C>A (p.Leu454=) c.612C>A (p.Leu204=) c.1152C>A (p.Leu384=) c.1649C>A c.*537C>A (n.*537C>A) c.1212C>A (p.Leu404=) c.1374C>A (p.Leu458=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.50086675C= | CA2428768937 | CLCN5 | c.1362C= (p.Leu454=) c.612C= (p.Leu204=) c.1152C= (p.Leu384=) c.1649C= c.*537C= (n.*537C=) c.1212C= (p.Leu404=) c.1374C= (p.Leu458=) | |
| X | g.50086675C>G | CA516678403 | CLCN5 | c.1362C>G (p.Leu454=) c.612C>G (p.Leu204=) c.1152C>G (p.Leu384=) c.1649C>G c.*537C>G (n.*537C>G) c.1212C>G (p.Leu404=) c.1374C>G (p.Leu458=) | |
| X | g.50086675C>T | CA516678404 | CLCN5 | c.1362C>T (p.Leu454=) c.612C>T (p.Leu204=) c.1152C>T (p.Leu384=) c.1649C>T c.*537C>T (n.*537C>T) c.1212C>T (p.Leu404=) c.1374C>T (p.Leu458=) | |
| X | g.50086676A>C | CA413185840 | CLCN5 | c.1363A>C (p.Ile455Leu) c.613A>C (p.Ile205Leu) c.1153A>C (p.Ile385Leu) c.1650A>C c.*538A>C (n.*538A>C) c.1213A>C (p.Ile405Leu) c.1375A>C (p.Ile459Leu) | |
| X | g.50086676A>G | CA413185842 | CLCN5 | c.1363A>G (p.Ile455Val) c.613A>G (p.Ile205Val) c.1153A>G (p.Ile385Val) c.1650A>G c.*538A>G (n.*538A>G) c.1213A>G (p.Ile405Val) c.1375A>G (p.Ile459Val) | |
| X | g.50086676A>T | CA413185844 | CLCN5 | c.1363A>T (p.Ile455Phe) c.613A>T (p.Ile205Phe) c.1153A>T (p.Ile385Phe) c.1650A>T c.*538A>T (n.*538A>T) c.1213A>T (p.Ile405Phe) c.1375A>T (p.Ile459Phe) | |
| X | g.50086677T>A | CA413185846 | CLCN5 | c.1364T>A (p.Ile455Asn) c.614T>A (p.Ile205Asn) c.1154T>A (p.Ile385Asn) c.1651T>A c.*539T>A (n.*539T>A) c.1214T>A (p.Ile405Asn) c.1376T>A (p.Ile459Asn) | |
| X | g.50086677T>C | CA413185848 | CLCN5 | c.1364T>C (p.Ile455Thr) c.614T>C (p.Ile205Thr) c.1154T>C (p.Ile385Thr) c.1651T>C c.*539T>C (n.*539T>C) c.1214T>C (p.Ile405Thr) c.1376T>C (p.Ile459Thr) | |
| X | g.50086677T>G | CA413185850 | CLCN5 | c.1364T>G (p.Ile455Ser) c.614T>G (p.Ile205Ser) c.1154T>G (p.Ile385Ser) c.1651T>G c.*539T>G (n.*539T>G) c.1214T>G (p.Ile405Ser) c.1376T>G (p.Ile459Ser) | |
| X | g.50086678T>A | CA516678408 | CLCN5 | c.1365T>A (p.Ile455=) c.615T>A (p.Ile205=) c.1155T>A (p.Ile385=) c.1652T>A c.*540T>A (n.*540T>A) c.1215T>A (p.Ile405=) c.1377T>A (p.Ile459=) | |
| X | g.50086678T>C | CA516678414 | CLCN5 | c.1365T>C (p.Ile455=) c.615T>C (p.Ile205=) c.1155T>C (p.Ile385=) c.1652T>C c.*540T>C (n.*540T>C) c.1215T>C (p.Ile405=) c.1377T>C (p.Ile459=) | |
| X | g.50086678T>G | CA413185852 | CLCN5 | c.1365T>G (p.Ile455Met) c.615T>G (p.Ile205Met) c.1155T>G (p.Ile385Met) c.1652T>G c.*540T>G (n.*540T>G) c.1215T>G (p.Ile405Met) c.1377T>G (p.Ile459Met) | |
| X | g.50086679T>A | CA413185855 | CLCN5 | c.1366T>A (p.Ser456Thr) c.616T>A (p.Ser206Thr) c.1156T>A (p.Ser386Thr) c.1653T>A c.*541T>A (n.*541T>A) c.1216T>A (p.Ser406Thr) c.1378T>A (p.Ser460Thr) | |
| X | g.50086679T>C | CA413185857 | CLCN5 | c.1366T>C (p.Ser456Pro) c.616T>C (p.Ser206Pro) c.1156T>C (p.Ser386Pro) c.1653T>C c.*541T>C (n.*541T>C) c.1216T>C (p.Ser406Pro) c.1378T>C (p.Ser460Pro) | |
| X | g.50086679T>G | CA413185859 | CLCN5 | c.1366T>G (p.Ser456Ala) c.616T>G (p.Ser206Ala) c.1156T>G (p.Ser386Ala) c.1653T>G c.*541T>G (n.*541T>G) c.1216T>G (p.Ser406Ala) c.1378T>G (p.Ser460Ala) | |
| X | g.50086680C>A | CA413185861 | CLCN5 | c.1367C>A (p.Ser456Tyr) c.617C>A (p.Ser206Tyr) c.1157C>A (p.Ser386Tyr) c.1654C>A c.*542C>A (n.*542C>A) c.1217C>A (p.Ser406Tyr) c.1379C>A (p.Ser460Tyr) | |
| X | g.50086680C>G | CA413185862 | CLCN5 | c.1367C>G (p.Ser456Cys) c.617C>G (p.Ser206Cys) c.1157C>G (p.Ser386Cys) c.1654C>G c.*542C>G (n.*542C>G) c.1217C>G (p.Ser406Cys) c.1379C>G (p.Ser460Cys) | |
| X | g.50086680C>T | CA413185865 | CLCN5 | c.1367C>T (p.Ser456Phe) c.617C>T (p.Ser206Phe) c.1157C>T (p.Ser386Phe) c.1654C>T c.*542C>T (n.*542C>T) c.1217C>T (p.Ser406Phe) c.1379C>T (p.Ser460Phe) | |
| X | g.50086681T>A | CA516678422 | CLCN5 | c.1368T>A (p.Ser456=) c.618T>A (p.Ser206=) c.1158T>A (p.Ser386=) c.1655T>A c.*543T>A (n.*543T>A) c.1218T>A (p.Ser406=) c.1380T>A (p.Ser460=) | |
| X | g.50086681T>C | CA516678423 | CLCN5 | c.1368T>C (p.Ser456=) c.618T>C (p.Ser206=) c.1158T>C (p.Ser386=) c.1655T>C c.*543T>C (n.*543T>C) c.1218T>C (p.Ser406=) c.1380T>C (p.Ser460=) | |
| X | g.50086681T>G | CA516678425 | CLCN5 | c.1368T>G (p.Ser456=) c.618T>G (p.Ser206=) c.1158T>G (p.Ser386=) c.1655T>G c.*543T>G (n.*543T>G) c.1218T>G (p.Ser406=) c.1380T>G (p.Ser460=) | gnomAD v4 |
| X | g.50086682G>A | CA413185867 | CLCN5 | c.1369G>A (p.Glu457Lys) c.619G>A (p.Glu207Lys) c.1159G>A (p.Glu387Lys) c.1656G>A c.*544G>A (n.*544G>A) c.1219G>A (p.Glu407Lys) c.1381G>A (p.Glu461Lys) | |
| X | g.50086682G>C | CA413185870 | CLCN5 | c.1369G>C (p.Glu457Gln) c.619G>C (p.Glu207Gln) c.1159G>C (p.Glu387Gln) c.1656G>C c.*544G>C (n.*544G>C) c.1219G>C (p.Glu407Gln) c.1381G>C (p.Glu461Gln) | |
| X | g.50086682G>T | CA413185868 | CLCN5 | c.1369G>T (p.Glu457Ter) c.619G>T (p.Glu207Ter) c.1159G>T (p.Glu387Ter) c.1656G>T c.*544G>T (n.*544G>T) c.1219G>T (p.Glu407Ter) c.1381G>T (p.Glu461Ter) | |
| X | g.50086683A>C | CA413185873 | CLCN5 | c.1370A>C (p.Glu457Ala) c.620A>C (p.Glu207Ala) c.1160A>C (p.Glu387Ala) c.1657A>C c.*545A>C (n.*545A>C) c.1220A>C (p.Glu407Ala) c.1382A>C (p.Glu461Ala) | gnomAD v4 |
| X | g.50086683A>G | CA413185875 | CLCN5 | c.1370A>G (p.Glu457Gly) c.620A>G (p.Glu207Gly) c.1160A>G (p.Glu387Gly) c.1657A>G c.*545A>G (n.*545A>G) c.1220A>G (p.Glu407Gly) c.1382A>G (p.Glu461Gly) | |
| X | g.50086683A>T | CA413185877 | CLCN5 | c.1370A>T (p.Glu457Val) c.620A>T (p.Glu207Val) c.1160A>T (p.Glu387Val) c.1657A>T c.*545A>T (n.*545A>T) c.1220A>T (p.Glu407Val) c.1382A>T (p.Glu461Val) | |
| X | g.50086684G>A | CA516678431 | CLCN5 | c.1371G>A (p.Glu457=) c.621G>A (p.Glu207=) c.1161G>A (p.Glu387=) c.1658G>A c.*546G>A (n.*546G>A) c.1221G>A (p.Glu407=) c.1383G>A (p.Glu461=) | dbSNP |
| X | g.50086684G>C | CA413185879 | CLCN5 | c.1371G>C (p.Glu457Asp) c.621G>C (p.Glu207Asp) c.1161G>C (p.Glu387Asp) c.1658G>C c.*546G>C (n.*546G>C) c.1221G>C (p.Glu407Asp) c.1383G>C (p.Glu461Asp) | |
| X | g.50086684G>T | CA413185881 | CLCN5 | c.1371G>T (p.Glu457Asp) c.621G>T (p.Glu207Asp) c.1161G>T (p.Glu387Asp) c.1658G>T c.*546G>T (n.*546G>T) c.1221G>T (p.Glu407Asp) c.1383G>T (p.Glu461Asp) | |
| X | g.50086685C>A | CA413185883 | CLCN5 | c.1372C>A (p.Leu458Met) c.622C>A (p.Leu208Met) c.1162C>A (p.Leu388Met) c.1659C>A c.*547C>A (n.*547C>A) c.1222C>A (p.Leu408Met) c.1384C>A (p.Leu462Met) | |
| X | g.50086685C>G | CA413185885 | CLCN5 | c.1372C>G (p.Leu458Val) c.622C>G (p.Leu208Val) c.1162C>G (p.Leu388Val) c.1659C>G c.*547C>G (n.*547C>G) c.1222C>G (p.Leu408Val) c.1384C>G (p.Leu462Val) | |
| X | g.50086685C>T | CA516678432 | CLCN5 | c.1372C>T (p.Leu458=) c.622C>T (p.Leu208=) c.1162C>T (p.Leu388=) c.1659C>T c.*547C>T (n.*547C>T) c.1222C>T (p.Leu408=) c.1384C>T (p.Leu462=) | gnomAD v4 |
| X | g.50086686T>A | CA413185887 | CLCN5 | c.1373T>A (p.Leu458Gln) c.623T>A (p.Leu208Gln) c.1163T>A (p.Leu388Gln) c.1660T>A c.*548T>A (n.*548T>A) c.1223T>A (p.Leu408Gln) c.1385T>A (p.Leu462Gln) | |
| X | g.50086686T>C | CA413185891 | CLCN5 | c.1373T>C (p.Leu458Pro) c.623T>C (p.Leu208Pro) c.1163T>C (p.Leu388Pro) c.1660T>C c.*548T>C (n.*548T>C) c.1223T>C (p.Leu408Pro) c.1385T>C (p.Leu462Pro) | |
| X | g.50086686T>G | CA413185889 | CLCN5 | c.1373T>G (p.Leu458Arg) c.623T>G (p.Leu208Arg) c.1163T>G (p.Leu388Arg) c.1660T>G c.*548T>G (n.*548T>G) c.1223T>G (p.Leu408Arg) c.1385T>G (p.Leu462Arg) | |
| X | g.50086686_50086687delinsTG | CA2428768938 | CLCN5 | c.1373_1374delinsTG (p.Leu458=) c.623_624delinsTG (p.Leu208=) c.1163_1164delinsTG (p.Leu388=) c.1660_1661delinsTG c.*548_*549delinsTG (n.*548_*549delinsTG) c.1223_1224delinsTG (p.Leu408=) c.1385_1386delinsTG (p.Leu462=) | |
| X | g.50086687_50086690dup | CA2693737107 | CLCN5 | c.1374_1377dup (p.Asn460ValfsTer2) c.624_627dup (p.Asn210ValfsTer2) c.1164_1167dup (p.Asn390ValfsTer2) c.1661_1664dup c.*549_*552dup (n.*549_*552dup) c.1224_1227dup (p.Asn410ValfsTer2) c.1386_1389dup (p.Asn464ValfsTer2) | gnomAD v4 |
| X | g.50086687del | CA658799745 | CLCN5 | c.1374del (p.Phe459LeufsTer?) c.624del (p.Phe209LeufsTer?) c.1164del (p.Phe389LeufsTer?) c.1661del c.*549del (n.*549del) c.1224del (p.Phe409LeufsTer?) c.1386del (p.Phe463LeufsTer?) | ClinVar dbSNP |
| X | g.50086687G>A | CA10413867 | CLCN5 | c.1374G>A (p.Leu458=) c.624G>A (p.Leu208=) c.1164G>A (p.Leu388=) c.1661G>A c.*549G>A (n.*549G>A) c.1224G>A (p.Leu408=) c.1386G>A (p.Leu462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086687G>C | CA516678438 | CLCN5 | c.1374G>C (p.Leu458=) c.624G>C (p.Leu208=) c.1164G>C (p.Leu388=) c.1661G>C c.*549G>C (n.*549G>C) c.1224G>C (p.Leu408=) c.1386G>C (p.Leu462=) | |
| X | g.50086687G= | CA2428768939 | CLCN5 | c.1374G= (p.Leu458=) c.624G= (p.Leu208=) c.1164G= (p.Leu388=) c.1661G= c.*549G= (n.*549G=) c.1224G= (p.Leu408=) c.1386G= (p.Leu462=) | |
| X | g.50086687G>T | CA516678443 | CLCN5 | c.1374G>T (p.Leu458=) c.624G>T (p.Leu208=) c.1164G>T (p.Leu388=) c.1661G>T c.*549G>T (n.*549G>T) c.1224G>T (p.Leu408=) c.1386G>T (p.Leu462=) | |
| X | g.50086687_50086688insAG | CA2695233686 | CLCN5 | c.1374_1375insAG (p.Phe459SerfsTer?) c.624_625insAG (p.Phe209SerfsTer?) c.1164_1165insAG (p.Phe389SerfsTer?) c.1661_1662insAG c.*549_*550insAG (n.*549_*550insAG) c.1224_1225insAG (p.Phe409SerfsTer?) c.1386_1387insAG (p.Phe463SerfsTer?) | |
| X | g.50086688T>A | CA413185895 | CLCN5 | c.1375T>A (p.Phe459Ile) c.625T>A (p.Phe209Ile) c.1165T>A (p.Phe389Ile) c.1662T>A c.*550T>A (n.*550T>A) c.1225T>A (p.Phe409Ile) c.1387T>A (p.Phe463Ile) | |
| X | g.50086688T>C | CA413185897 | CLCN5 | c.1375T>C (p.Phe459Leu) c.625T>C (p.Phe209Leu) c.1165T>C (p.Phe389Leu) c.1662T>C c.*550T>C (n.*550T>C) c.1225T>C (p.Phe409Leu) c.1387T>C (p.Phe463Leu) | |
| X | g.50086688T>G | CA413185899 | CLCN5 | c.1375T>G (p.Phe459Val) c.625T>G (p.Phe209Val) c.1165T>G (p.Phe389Val) c.1662T>G c.*550T>G (n.*550T>G) c.1225T>G (p.Phe409Val) c.1387T>G (p.Phe463Val) | |
| X | g.50086689T>A | CA413185906 | CLCN5 | c.1376T>A (p.Phe459Tyr) c.626T>A (p.Phe209Tyr) c.1166T>A (p.Phe389Tyr) c.1663T>A c.*551T>A (n.*551T>A) c.1226T>A (p.Phe409Tyr) c.1388T>A (p.Phe463Tyr) | |
| X | g.50086689T>C | CA413185902 | CLCN5 | c.1376T>C (p.Phe459Ser) c.626T>C (p.Phe209Ser) c.1166T>C (p.Phe389Ser) c.1663T>C c.*551T>C (n.*551T>C) c.1226T>C (p.Phe409Ser) c.1388T>C (p.Phe463Ser) | |
| X | g.50086689T>G | CA413185904 | CLCN5 | c.1376T>G (p.Phe459Cys) c.626T>G (p.Phe209Cys) c.1166T>G (p.Phe389Cys) c.1663T>G c.*551T>G (n.*551T>G) c.1226T>G (p.Phe409Cys) c.1388T>G (p.Phe463Cys) | |
| X | g.50086690T>A | CA413185908 | CLCN5 | c.1377T>A (p.Phe459Leu) c.627T>A (p.Phe209Leu) c.1167T>A (p.Phe389Leu) c.1664T>A c.*552T>A (n.*552T>A) c.1227T>A (p.Phe409Leu) c.1389T>A (p.Phe463Leu) | |
| X | g.50086690T>C | CA516678448 | CLCN5 | c.1377T>C (p.Phe459=) c.627T>C (p.Phe209=) c.1167T>C (p.Phe389=) c.1664T>C c.*552T>C (n.*552T>C) c.1227T>C (p.Phe409=) c.1389T>C (p.Phe463=) | |
| X | g.50086690T>G | CA413185910 | CLCN5 | c.1377T>G (p.Phe459Leu) c.627T>G (p.Phe209Leu) c.1167T>G (p.Phe389Leu) c.1664T>G c.*552T>G (n.*552T>G) c.1227T>G (p.Phe409Leu) c.1389T>G (p.Phe463Leu) | |
| X | g.50086691A>C | CA413185913 | CLCN5 | c.1378A>C (p.Asn460His) c.628A>C (p.Asn210His) c.1168A>C (p.Asn390His) c.1665A>C c.*553A>C (n.*553A>C) c.1228A>C (p.Asn410His) c.1390A>C (p.Asn464His) | |
| X | g.50086691A>G | CA413185914 | CLCN5 | c.1378A>G (p.Asn460Asp) c.628A>G (p.Asn210Asp) c.1168A>G (p.Asn390Asp) c.1665A>G c.*553A>G (n.*553A>G) c.1228A>G (p.Asn410Asp) c.1390A>G (p.Asn464Asp) | |
| X | g.50086691A>T | CA413185916 | CLCN5 | c.1378A>T (p.Asn460Tyr) c.628A>T (p.Asn210Tyr) c.1168A>T (p.Asn390Tyr) c.1665A>T c.*553A>T (n.*553A>T) c.1228A>T (p.Asn410Tyr) c.1390A>T (p.Asn464Tyr) | |
| X | g.50086692A>C | CA413185919 | CLCN5 | c.1379A>C (p.Asn460Thr) c.629A>C (p.Asn210Thr) c.1169A>C (p.Asn390Thr) c.1666A>C c.*554A>C (n.*554A>C) c.1229A>C (p.Asn410Thr) c.1391A>C (p.Asn464Thr) | COSMIC COSMIC |
| X | g.50086692A>G | CA413185921 | CLCN5 | c.1379A>G (p.Asn460Ser) c.629A>G (p.Asn210Ser) c.1169A>G (p.Asn390Ser) c.1666A>G c.*554A>G (n.*554A>G) c.1229A>G (p.Asn410Ser) c.1391A>G (p.Asn464Ser) | |
| X | g.50086692A>T | CA413185923 | CLCN5 | c.1379A>T (p.Asn460Ile) c.629A>T (p.Asn210Ile) c.1169A>T (p.Asn390Ile) c.1666A>T c.*554A>T (n.*554A>T) c.1229A>T (p.Asn410Ile) c.1391A>T (p.Asn464Ile) | |
| X | g.50086693T>A | CA413185925 | CLCN5 | c.1380T>A (p.Asn460Lys) c.630T>A (p.Asn210Lys) c.1170T>A (p.Asn390Lys) c.1667T>A c.*555T>A (n.*555T>A) c.1230T>A (p.Asn410Lys) c.1392T>A (p.Asn464Lys) | |
| X | g.50086693T>C | CA516678455 | CLCN5 | c.1380T>C (p.Asn460=) c.630T>C (p.Asn210=) c.1170T>C (p.Asn390=) c.1667T>C c.*555T>C (n.*555T>C) c.1230T>C (p.Asn410=) c.1392T>C (p.Asn464=) | |
| X | g.50086693T>G | CA413185927 | CLCN5 | c.1380T>G (p.Asn460Lys) c.630T>G (p.Asn210Lys) c.1170T>G (p.Asn390Lys) c.1667T>G c.*555T>G (n.*555T>G) c.1230T>G (p.Asn410Lys) c.1392T>G (p.Asn464Lys) | |
| X | g.50086694G>A | CA413185929 | CLCN5 | c.1381G>A (p.Asp461Asn) c.631G>A (p.Asp211Asn) c.1171G>A (p.Asp391Asn) c.1668G>A c.*556G>A (n.*556G>A) c.1231G>A (p.Asp411Asn) c.1393G>A (p.Asp465Asn) | |
| X | g.50086694G>C | CA413185931 | CLCN5 | c.1381G>C (p.Asp461His) c.631G>C (p.Asp211His) c.1171G>C (p.Asp391His) c.1668G>C c.*556G>C (n.*556G>C) c.1231G>C (p.Asp411His) c.1393G>C (p.Asp465His) | |
| X | g.50086694G>T | CA413185933 | CLCN5 | c.1381G>T (p.Asp461Tyr) c.631G>T (p.Asp211Tyr) c.1171G>T (p.Asp391Tyr) c.1668G>T c.*556G>T (n.*556G>T) c.1231G>T (p.Asp411Tyr) c.1393G>T (p.Asp465Tyr) | |
| X | g.50086695A= | CA2428768940 | CLCN5 | c.1382A= (p.Asp461=) c.632A= (p.Asp211=) c.1172A= (p.Asp391=) c.1669A= c.*557A= (n.*557A=) c.1232A= (p.Asp411=) c.1394A= (p.Asp465=) | |
| X | g.50086695A>C | CA413185937 | CLCN5 | c.1382A>C (p.Asp461Ala) c.632A>C (p.Asp211Ala) c.1172A>C (p.Asp391Ala) c.1669A>C c.*557A>C (n.*557A>C) c.1232A>C (p.Asp411Ala) c.1394A>C (p.Asp465Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.50086695A>G | CA413185934 | CLCN5 | c.1382A>G (p.Asp461Gly) c.632A>G (p.Asp211Gly) c.1172A>G (p.Asp391Gly) c.1669A>G c.*557A>G (n.*557A>G) c.1232A>G (p.Asp411Gly) c.1394A>G (p.Asp465Gly) | COSMIC COSMIC |
| X | g.50086695A>T | CA413185936 | CLCN5 | c.1382A>T (p.Asp461Val) c.632A>T (p.Asp211Val) c.1172A>T (p.Asp391Val) c.1669A>T c.*557A>T (n.*557A>T) c.1232A>T (p.Asp411Val) c.1394A>T (p.Asp465Val) | |
| X | g.50086696C>A | CA413185939 | CLCN5 | c.1383C>A (p.Asp461Glu) c.633C>A (p.Asp211Glu) c.1173C>A (p.Asp391Glu) c.1670C>A c.*558C>A (n.*558C>A) c.1233C>A (p.Asp411Glu) c.1395C>A (p.Asp465Glu) | |
| X | g.50086696C>G | CA413185941 | CLCN5 | c.1383C>G (p.Asp461Glu) c.633C>G (p.Asp211Glu) c.1173C>G (p.Asp391Glu) c.1670C>G c.*558C>G (n.*558C>G) c.1233C>G (p.Asp411Glu) c.1395C>G (p.Asp465Glu) | |
| X | g.50086696C>T | CA516678458 | CLCN5 | c.1383C>T (p.Asp461=) c.633C>T (p.Asp211=) c.1173C>T (p.Asp391=) c.1670C>T c.*558C>T (n.*558C>T) c.1233C>T (p.Asp411=) c.1395C>T (p.Asp465=) | |
| X | g.50086697T>A | CA413185943 | CLCN5 | c.1384T>A (p.Cys462Ser) c.634T>A (p.Cys212Ser) c.1174T>A (p.Cys392Ser) c.1671T>A c.*559T>A (n.*559T>A) c.1234T>A (p.Cys412Ser) c.1396T>A (p.Cys466Ser) | |
| X | g.50086697T>C | CA413185946 | CLCN5 | c.1384T>C (p.Cys462Arg) c.634T>C (p.Cys212Arg) c.1174T>C (p.Cys392Arg) c.1671T>C c.*559T>C (n.*559T>C) c.1234T>C (p.Cys412Arg) c.1396T>C (p.Cys466Arg) | |
| X | g.50086697T>G | CA413185948 | CLCN5 | c.1384T>G (p.Cys462Gly) c.634T>G (p.Cys212Gly) c.1174T>G (p.Cys392Gly) c.1671T>G c.*559T>G (n.*559T>G) c.1234T>G (p.Cys412Gly) c.1396T>G (p.Cys466Gly) | |
| X | g.50086699_50086700del | CA2580617050 | CLCN5 | c.1386_1387del (p.Cys462TrpfsTer10) c.636_637del (p.Cys212TrpfsTer10) c.1176_1177del (p.Cys392TrpfsTer10) c.1673_1674del c.*561_*562del (n.*561_*562del) c.1236_1237del (p.Cys412TrpfsTer10) c.1398_1399del (p.Cys466TrpfsTer10) | ClinVar dbSNP |
| X | g.50086698G>A | CA413185951 | CLCN5 | c.1385G>A (p.Cys462Tyr) c.635G>A (p.Cys212Tyr) c.1175G>A (p.Cys392Tyr) c.1672G>A c.*560G>A (n.*560G>A) c.1235G>A (p.Cys412Tyr) c.1397G>A (p.Cys466Tyr) | |
| X | g.50086698G>C | CA413185953 | CLCN5 | c.1385G>C (p.Cys462Ser) c.635G>C (p.Cys212Ser) c.1175G>C (p.Cys392Ser) c.1672G>C c.*560G>C (n.*560G>C) c.1235G>C (p.Cys412Ser) c.1397G>C (p.Cys466Ser) | |
| X | g.50086698G>T | CA413185955 | CLCN5 | c.1385G>T (p.Cys462Phe) c.635G>T (p.Cys212Phe) c.1175G>T (p.Cys392Phe) c.1672G>T c.*560G>T (n.*560G>T) c.1235G>T (p.Cys412Phe) c.1397G>T (p.Cys466Phe) | |
| X | g.50086699T>A | CA413185957 | CLCN5 | c.1386T>A (p.Cys462Ter) c.636T>A (p.Cys212Ter) c.1176T>A (p.Cys392Ter) c.1673T>A c.*561T>A (n.*561T>A) c.1236T>A (p.Cys412Ter) c.1398T>A (p.Cys466Ter) | |
| X | g.50086699T>C | CA516678464 | CLCN5 | c.1386T>C (p.Cys462=) c.636T>C (p.Cys212=) c.1176T>C (p.Cys392=) c.1673T>C c.*561T>C (n.*561T>C) c.1236T>C (p.Cys412=) c.1398T>C (p.Cys466=) | |
| X | g.50086699T>G | CA413185959 | CLCN5 | c.1386T>G (p.Cys462Trp) c.636T>G (p.Cys212Trp) c.1176T>G (p.Cys392Trp) c.1673T>G c.*561T>G (n.*561T>G) c.1236T>G (p.Cys412Trp) c.1398T>G (p.Cys466Trp) | |
| X | g.50086700G>A | CA413185961 | CLCN5 | c.1387G>A (p.Gly463Ser) c.637G>A (p.Gly213Ser) c.1177G>A (p.Gly393Ser) c.1674G>A c.*562G>A (n.*562G>A) c.1237G>A (p.Gly413Ser) c.1399G>A (p.Gly467Ser) | gnomAD v4 |
| X | g.50086700G>C | CA413185963 | CLCN5 | c.1387G>C (p.Gly463Arg) c.637G>C (p.Gly213Arg) c.1177G>C (p.Gly393Arg) c.1674G>C c.*562G>C (n.*562G>C) c.1237G>C (p.Gly413Arg) c.1399G>C (p.Gly467Arg) | |
| X | g.50086700G>T | CA413185964 | CLCN5 | c.1387G>T (p.Gly463Cys) c.637G>T (p.Gly213Cys) c.1177G>T (p.Gly393Cys) c.1674G>T c.*562G>T (n.*562G>T) c.1237G>T (p.Gly413Cys) c.1399G>T (p.Gly467Cys) |