| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086565A>C | CA413185515 | CLCN5 | c.1252A>C (p.Lys418Gln) c.502A>C (p.Lys168Gln) c.1042A>C (p.Lys348Gln) c.1539A>C c.*427A>C (n.*427A>C) c.1102A>C (p.Lys368Gln) c.1264A>C (p.Lys422Gln) | |
| X | g.50086565A>G | CA413185516 | CLCN5 | c.1252A>G (p.Lys418Glu) c.502A>G (p.Lys168Glu) c.1042A>G (p.Lys348Glu) c.1539A>G c.*427A>G (n.*427A>G) c.1102A>G (p.Lys368Glu) c.1264A>G (p.Lys422Glu) | |
| X | g.50086565A>T | CA413185517 | CLCN5 | c.1252A>T (p.Lys418Ter) c.502A>T (p.Lys168Ter) c.1042A>T (p.Lys348Ter) c.1539A>T c.*427A>T (n.*427A>T) c.1102A>T (p.Lys368Ter) c.1264A>T (p.Lys422Ter) | |
| X | g.50086566A>C | CA413185518 | CLCN5 | c.1253A>C (p.Lys418Thr) c.503A>C (p.Lys168Thr) c.1043A>C (p.Lys348Thr) c.1540A>C c.*428A>C (n.*428A>C) c.1103A>C (p.Lys368Thr) c.1265A>C (p.Lys422Thr) | |
| X | g.50086566A>G | CA413185519 | CLCN5 | c.1253A>G (p.Lys418Arg) c.503A>G (p.Lys168Arg) c.1043A>G (p.Lys348Arg) c.1540A>G c.*428A>G (n.*428A>G) c.1103A>G (p.Lys368Arg) c.1265A>G (p.Lys422Arg) | |
| X | g.50086566A>T | CA413185520 | CLCN5 | c.1253A>T (p.Lys418Met) c.503A>T (p.Lys168Met) c.1043A>T (p.Lys348Met) c.1540A>T c.*428A>T (n.*428A>T) c.1103A>T (p.Lys368Met) c.1265A>T (p.Lys422Met) | |
| X | g.50086567G>A | CA516678529 | CLCN5 | c.1254G>A (p.Lys418=) c.504G>A (p.Lys168=) c.1044G>A (p.Lys348=) c.1541G>A c.*429G>A (n.*429G>A) c.1104G>A (p.Lys368=) c.1266G>A (p.Lys422=) | |
| X | g.50086567G>C | CA413185521 | CLCN5 | c.1254G>C (p.Lys418Asn) c.504G>C (p.Lys168Asn) c.1044G>C (p.Lys348Asn) c.1541G>C c.*429G>C (n.*429G>C) c.1104G>C (p.Lys368Asn) c.1266G>C (p.Lys422Asn) | |
| X | g.50086567G>T | CA413185522 | CLCN5 | c.1254G>T (p.Lys418Asn) c.504G>T (p.Lys168Asn) c.1044G>T (p.Lys348Asn) c.1541G>T c.*429G>T (n.*429G>T) c.1104G>T (p.Lys368Asn) c.1266G>T (p.Lys422Asn) | COSMIC |
| X | g.50086568A= | CA2428768907 | CLCN5 | c.1255A= (p.Thr419=) c.505A= (p.Thr169=) c.1045A= (p.Thr349=) c.1542A= c.*430A= (n.*430A=) c.1105A= (p.Thr369=) c.1267A= (p.Thr423=) | |
| X | g.50086568A>C | CA413185523 | CLCN5 | c.1255A>C (p.Thr419Pro) c.505A>C (p.Thr169Pro) c.1045A>C (p.Thr349Pro) c.1542A>C c.*430A>C (n.*430A>C) c.1105A>C (p.Thr369Pro) c.1267A>C (p.Thr423Pro) | |
| X | g.50086568A>G | CA413185524 | CLCN5 | c.1255A>G (p.Thr419Ala) c.505A>G (p.Thr169Ala) c.1045A>G (p.Thr349Ala) c.1542A>G c.*430A>G (n.*430A>G) c.1105A>G (p.Thr369Ala) c.1267A>G (p.Thr423Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086568A>T | CA413185525 | CLCN5 | c.1255A>T (p.Thr419Ser) c.505A>T (p.Thr169Ser) c.1045A>T (p.Thr349Ser) c.1542A>T c.*430A>T (n.*430A>T) c.1105A>T (p.Thr369Ser) c.1267A>T (p.Thr423Ser) | |
| X | g.50086569C>A | CA413185528 | CLCN5 | c.1256C>A (p.Thr419Asn) c.506C>A (p.Thr169Asn) c.1046C>A (p.Thr349Asn) c.1543C>A c.*431C>A (n.*431C>A) c.1106C>A (p.Thr369Asn) c.1268C>A (p.Thr423Asn) | |
| X | g.50086569C>G | CA413185527 | CLCN5 | c.1256C>G (p.Thr419Ser) c.506C>G (p.Thr169Ser) c.1046C>G (p.Thr349Ser) c.1543C>G c.*431C>G (n.*431C>G) c.1106C>G (p.Thr369Ser) c.1268C>G (p.Thr423Ser) | gnomAD v4 |
| X | g.50086569C>T | CA413185526 | CLCN5 | c.1256C>T (p.Thr419Ile) c.506C>T (p.Thr169Ile) c.1046C>T (p.Thr349Ile) c.1543C>T c.*431C>T (n.*431C>T) c.1106C>T (p.Thr369Ile) c.1268C>T (p.Thr423Ile) | |
| X | g.50086570C>A | CA516678534 | CLCN5 | c.1257C>A (p.Thr419=) c.507C>A (p.Thr169=) c.1047C>A (p.Thr349=) c.1544C>A c.*432C>A (n.*432C>A) c.1107C>A (p.Thr369=) c.1269C>A (p.Thr423=) | |
| X | g.50086570C= | CA2428768908 | CLCN5 | c.1257C= (p.Thr419=) c.507C= (p.Thr169=) c.1047C= (p.Thr349=) c.1544C= c.*432C= (n.*432C=) c.1107C= (p.Thr369=) c.1269C= (p.Thr423=) | |
| X | g.50086570C>G | CA516678535 | CLCN5 | c.1257C>G (p.Thr419=) c.507C>G (p.Thr169=) c.1047C>G (p.Thr349=) c.1544C>G c.*432C>G (n.*432C>G) c.1107C>G (p.Thr369=) c.1269C>G (p.Thr423=) | |
| X | g.50086570C>T | CA10413855 | CLCN5 | c.1257C>T (p.Thr419=) c.507C>T (p.Thr169=) c.1047C>T (p.Thr349=) c.1544C>T c.*432C>T (n.*432C>T) c.1107C>T (p.Thr369=) c.1269C>T (p.Thr423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086571A>C | CA413185529 | CLCN5 | c.1258A>C (p.Thr420Pro) c.508A>C (p.Thr170Pro) c.1048A>C (p.Thr350Pro) c.1545A>C c.*433A>C (n.*433A>C) c.1108A>C (p.Thr370Pro) c.1270A>C (p.Thr424Pro) | |
| X | g.50086571A>G | CA413185530 | CLCN5 | c.1258A>G (p.Thr420Ala) c.508A>G (p.Thr170Ala) c.1048A>G (p.Thr350Ala) c.1545A>G c.*433A>G (n.*433A>G) c.1108A>G (p.Thr370Ala) c.1270A>G (p.Thr424Ala) | |
| X | g.50086571A>T | CA413185531 | CLCN5 | c.1258A>T (p.Thr420Ser) c.508A>T (p.Thr170Ser) c.1048A>T (p.Thr350Ser) c.1545A>T c.*433A>T (n.*433A>T) c.1108A>T (p.Thr370Ser) c.1270A>T (p.Thr424Ser) | |
| X | g.50086572C>A | CA413185532 | CLCN5 | c.1259C>A (p.Thr420Asn) c.509C>A (p.Thr170Asn) c.1049C>A (p.Thr350Asn) c.1546C>A c.*434C>A (n.*434C>A) c.1109C>A (p.Thr370Asn) c.1271C>A (p.Thr424Asn) | |
| X | g.50086572C>G | CA413185533 | CLCN5 | c.1259C>G (p.Thr420Ser) c.509C>G (p.Thr170Ser) c.1049C>G (p.Thr350Ser) c.1546C>G c.*434C>G (n.*434C>G) c.1109C>G (p.Thr370Ser) c.1271C>G (p.Thr424Ser) | gnomAD v4 |
| X | g.50086572C>T | CA413185534 | CLCN5 | c.1259C>T (p.Thr420Ile) c.509C>T (p.Thr170Ile) c.1049C>T (p.Thr350Ile) c.1546C>T c.*434C>T (n.*434C>T) c.1109C>T (p.Thr370Ile) c.1271C>T (p.Thr424Ile) | |
| X | g.50086573C>A | CA516678537 | CLCN5 | c.1260C>A (p.Thr420=) c.510C>A (p.Thr170=) c.1050C>A (p.Thr350=) c.1547C>A c.*435C>A (n.*435C>A) c.1110C>A (p.Thr370=) c.1272C>A (p.Thr424=) | |
| X | g.50086573C>G | CA516678538 | CLCN5 | c.1260C>G (p.Thr420=) c.510C>G (p.Thr170=) c.1050C>G (p.Thr350=) c.1547C>G c.*435C>G (n.*435C>G) c.1110C>G (p.Thr370=) c.1272C>G (p.Thr424=) | |
| X | g.50086573C>T | CA516678539 | CLCN5 | c.1260C>T (p.Thr420=) c.510C>T (p.Thr170=) c.1050C>T (p.Thr350=) c.1547C>T c.*435C>T (n.*435C>T) c.1110C>T (p.Thr370=) c.1272C>T (p.Thr424=) | |
| X | g.50086574C>A | CA413185535 | CLCN5 | c.1261C>A (p.Gln421Lys) c.511C>A (p.Gln171Lys) c.1051C>A (p.Gln351Lys) c.1548C>A c.*436C>A (n.*436C>A) c.1111C>A (p.Gln371Lys) c.1273C>A (p.Gln425Lys) | |
| X | g.50086574C>G | CA413185536 | CLCN5 | c.1261C>G (p.Gln421Glu) c.511C>G (p.Gln171Glu) c.1051C>G (p.Gln351Glu) c.1548C>G c.*436C>G (n.*436C>G) c.1111C>G (p.Gln371Glu) c.1273C>G (p.Gln425Glu) | |
| X | g.50086574C>T | CA413185537 | CLCN5 | c.1261C>T (p.Gln421Ter) c.511C>T (p.Gln171Ter) c.1051C>T (p.Gln351Ter) c.1548C>T c.*436C>T (n.*436C>T) c.1111C>T (p.Gln371Ter) c.1273C>T (p.Gln425Ter) | ClinVar |
| X | g.50086575A= | CA2428768909 | CLCN5 | c.1262A= (p.Gln421=) c.512A= (p.Gln171=) c.1052A= (p.Gln351=) c.1549A= c.*437A= (n.*437A=) c.1112A= (p.Gln371=) c.1274A= (p.Gln425=) | |
| X | g.50086575A>C | CA413185538 | CLCN5 | c.1262A>C (p.Gln421Pro) c.512A>C (p.Gln171Pro) c.1052A>C (p.Gln351Pro) c.1549A>C c.*437A>C (n.*437A>C) c.1112A>C (p.Gln371Pro) c.1274A>C (p.Gln425Pro) | |
| X | g.50086575A>G | CA329782443 | CLCN5 | c.1262A>G (p.Gln421Arg) c.512A>G (p.Gln171Arg) c.1052A>G (p.Gln351Arg) c.1549A>G c.*437A>G (n.*437A>G) c.1112A>G (p.Gln371Arg) c.1274A>G (p.Gln425Arg) | dbSNP gnomAD v4 |
| X | g.50086575A>T | CA413185539 | CLCN5 | c.1262A>T (p.Gln421Leu) c.512A>T (p.Gln171Leu) c.1052A>T (p.Gln351Leu) c.1549A>T c.*437A>T (n.*437A>T) c.1112A>T (p.Gln371Leu) c.1274A>T (p.Gln425Leu) | |
| X | g.50086576G>A | CA516678541 | CLCN5 | c.1263G>A (p.Gln421=) c.513G>A (p.Gln171=) c.1053G>A (p.Gln351=) c.1550G>A c.*438G>A (n.*438G>A) c.1113G>A (p.Gln371=) c.1275G>A (p.Gln425=) | dbSNP gnomAD v2 |
| X | g.50086576G>C | CA413185540 | CLCN5 | c.1263G>C (p.Gln421His) c.513G>C (p.Gln171His) c.1053G>C (p.Gln351His) c.1550G>C c.*438G>C (n.*438G>C) c.1113G>C (p.Gln371His) c.1275G>C (p.Gln425His) | |
| X | g.50086576G= | CA2428768910 | CLCN5 | c.1263G= (p.Gln421=) c.513G= (p.Gln171=) c.1053G= (p.Gln351=) c.1550G= c.*438G= (n.*438G=) c.1113G= (p.Gln371=) c.1275G= (p.Gln425=) | |
| X | g.50086576G>T | CA413185541 | CLCN5 | c.1263G>T (p.Gln421His) c.513G>T (p.Gln171His) c.1053G>T (p.Gln351His) c.1550G>T c.*438G>T (n.*438G>T) c.1113G>T (p.Gln371His) c.1275G>T (p.Gln425His) | gnomAD v4 |
| X | g.50086577T>A | CA413185543 | CLCN5 | c.1264T>A (p.Leu422Met) c.514T>A (p.Leu172Met) c.1054T>A (p.Leu352Met) c.1551T>A c.*439T>A (n.*439T>A) c.1114T>A (p.Leu372Met) c.1276T>A (p.Leu426Met) | |
| X | g.50086577T>C | CA516678542 | CLCN5 | c.1264T>C (p.Leu422=) c.514T>C (p.Leu172=) c.1054T>C (p.Leu352=) c.1551T>C c.*439T>C (n.*439T>C) c.1114T>C (p.Leu372=) c.1276T>C (p.Leu426=) | |
| X | g.50086577T>G | CA413185542 | CLCN5 | c.1264T>G (p.Leu422Val) c.514T>G (p.Leu172Val) c.1054T>G (p.Leu352Val) c.1551T>G c.*439T>G (n.*439T>G) c.1114T>G (p.Leu372Val) c.1276T>G (p.Leu426Val) | |
| X | g.50086578T>A | CA413185544 | CLCN5 | c.1265T>A (p.Leu422Ter) c.515T>A (p.Leu172Ter) c.1055T>A (p.Leu352Ter) c.1552T>A c.*440T>A (n.*440T>A) c.1115T>A (p.Leu372Ter) c.1277T>A (p.Leu426Ter) | |
| X | g.50086578T>C | CA413185545 | CLCN5 | c.1265T>C (p.Leu422Ser) c.515T>C (p.Leu172Ser) c.1055T>C (p.Leu352Ser) c.1552T>C c.*440T>C (n.*440T>C) c.1115T>C (p.Leu372Ser) c.1277T>C (p.Leu426Ser) | |
| X | g.50086578T>G | CA413185546 | CLCN5 | c.1265T>G (p.Leu422Trp) c.515T>G (p.Leu172Trp) c.1055T>G (p.Leu352Trp) c.1552T>G c.*440T>G (n.*440T>G) c.1115T>G (p.Leu372Trp) c.1277T>G (p.Leu426Trp) | |
| X | g.50086579G>A | CA516678546 | CLCN5 | c.1266G>A (p.Leu422=) c.516G>A (p.Leu172=) c.1056G>A (p.Leu352=) c.1553G>A c.*441G>A (n.*441G>A) c.1116G>A (p.Leu372=) c.1278G>A (p.Leu426=) | |
| X | g.50086579G>C | CA413185547 | CLCN5 | c.1266G>C (p.Leu422Phe) c.516G>C (p.Leu172Phe) c.1056G>C (p.Leu352Phe) c.1553G>C c.*441G>C (n.*441G>C) c.1116G>C (p.Leu372Phe) c.1278G>C (p.Leu426Phe) | |
| X | g.50086579G>T | CA413185548 | CLCN5 | c.1266G>T (p.Leu422Phe) c.516G>T (p.Leu172Phe) c.1056G>T (p.Leu352Phe) c.1553G>T c.*441G>T (n.*441G>T) c.1116G>T (p.Leu372Phe) c.1278G>T (p.Leu426Phe) | |
| X | g.50086580G>A | CA413185551 | CLCN5 | c.1267G>A (p.Gly423Ser) c.517G>A (p.Gly173Ser) c.1057G>A (p.Gly353Ser) c.1554G>A c.*442G>A (n.*442G>A) c.1117G>A (p.Gly373Ser) c.1279G>A (p.Gly427Ser) | |
| X | g.50086580G>C | CA413185550 | CLCN5 | c.1267G>C (p.Gly423Arg) c.517G>C (p.Gly173Arg) c.1057G>C (p.Gly353Arg) c.1554G>C c.*442G>C (n.*442G>C) c.1117G>C (p.Gly373Arg) c.1279G>C (p.Gly427Arg) | |
| X | g.50086580G>T | CA413185549 | CLCN5 | c.1267G>T (p.Gly423Cys) c.517G>T (p.Gly173Cys) c.1057G>T (p.Gly353Cys) c.1554G>T c.*442G>T (n.*442G>T) c.1117G>T (p.Gly373Cys) c.1279G>T (p.Gly427Cys) | |
| X | g.50086581G>A | CA413185552 | CLCN5 | c.1268G>A (p.Gly423Asp) c.518G>A (p.Gly173Asp) c.1058G>A (p.Gly353Asp) c.1555G>A c.*443G>A (n.*443G>A) c.1118G>A (p.Gly373Asp) c.1280G>A (p.Gly427Asp) | |
| X | g.50086581G>C | CA413185553 | CLCN5 | c.1268G>C (p.Gly423Ala) c.518G>C (p.Gly173Ala) c.1058G>C (p.Gly353Ala) c.1555G>C c.*443G>C (n.*443G>C) c.1118G>C (p.Gly373Ala) c.1280G>C (p.Gly427Ala) | |
| X | g.50086581G>T | CA413185554 | CLCN5 | c.1268G>T (p.Gly423Val) c.518G>T (p.Gly173Val) c.1058G>T (p.Gly353Val) c.1555G>T c.*443G>T (n.*443G>T) c.1118G>T (p.Gly373Val) c.1280G>T (p.Gly427Val) | |
| X | g.50086582C>A | CA516678547 | CLCN5 | c.1269C>A (p.Gly423=) c.519C>A (p.Gly173=) c.1059C>A (p.Gly353=) c.1556C>A c.*444C>A (n.*444C>A) c.1119C>A (p.Gly373=) c.1281C>A (p.Gly427=) | |
| X | g.50086582C>G | CA516678548 | CLCN5 | c.1269C>G (p.Gly423=) c.519C>G (p.Gly173=) c.1059C>G (p.Gly353=) c.1556C>G c.*444C>G (n.*444C>G) c.1119C>G (p.Gly373=) c.1281C>G (p.Gly427=) | |
| X | g.50086582C>T | CA516678549 | CLCN5 | c.1269C>T (p.Gly423=) c.519C>T (p.Gly173=) c.1059C>T (p.Gly353=) c.1556C>T c.*444C>T (n.*444C>T) c.1119C>T (p.Gly373=) c.1281C>T (p.Gly427=) | |
| X | g.50086583A>C | CA413185555 | CLCN5 | c.1270A>C (p.Lys424Gln) c.520A>C (p.Lys174Gln) c.1060A>C (p.Lys354Gln) c.1557A>C c.*445A>C (n.*445A>C) c.1120A>C (p.Lys374Gln) c.1282A>C (p.Lys428Gln) | |
| X | g.50086583A>G | CA413185556 | CLCN5 | c.1270A>G (p.Lys424Glu) c.520A>G (p.Lys174Glu) c.1060A>G (p.Lys354Glu) c.1557A>G c.*445A>G (n.*445A>G) c.1120A>G (p.Lys374Glu) c.1282A>G (p.Lys428Glu) | |
| X | g.50086583A>T | CA413185557 | CLCN5 | c.1270A>T (p.Lys424Ter) c.520A>T (p.Lys174Ter) c.1060A>T (p.Lys354Ter) c.1557A>T c.*445A>T (n.*445A>T) c.1120A>T (p.Lys374Ter) c.1282A>T (p.Lys428Ter) | |
| X | g.50086584A>C | CA413185560 | CLCN5 | c.1271A>C (p.Lys424Thr) c.521A>C (p.Lys174Thr) c.1061A>C (p.Lys354Thr) c.1558A>C c.*446A>C (n.*446A>C) c.1121A>C (p.Lys374Thr) c.1283A>C (p.Lys428Thr) | |
| X | g.50086584A>G | CA413185558 | CLCN5 | c.1271A>G (p.Lys424Arg) c.521A>G (p.Lys174Arg) c.1061A>G (p.Lys354Arg) c.1558A>G c.*446A>G (n.*446A>G) c.1121A>G (p.Lys374Arg) c.1283A>G (p.Lys428Arg) | |
| X | g.50086584A>T | CA413185559 | CLCN5 | c.1271A>T (p.Lys424Met) c.521A>T (p.Lys174Met) c.1061A>T (p.Lys354Met) c.1558A>T c.*446A>T (n.*446A>T) c.1121A>T (p.Lys374Met) c.1283A>T (p.Lys428Met) | |
| X | g.50086585G>A | CA516678553 | CLCN5 | c.1272G>A (p.Lys424=) c.522G>A (p.Lys174=) c.1062G>A (p.Lys354=) c.1559G>A c.*447G>A (n.*447G>A) c.1122G>A (p.Lys374=) c.1284G>A (p.Lys428=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086585G>C | CA413185561 | CLCN5 | c.1272G>C (p.Lys424Asn) c.522G>C (p.Lys174Asn) c.1062G>C (p.Lys354Asn) c.1559G>C c.*447G>C (n.*447G>C) c.1122G>C (p.Lys374Asn) c.1284G>C (p.Lys428Asn) | |
| X | g.50086585G= | CA2428768911 | CLCN5 | c.1272G= (p.Lys424=) c.522G= (p.Lys174=) c.1062G= (p.Lys354=) c.1559G= c.*447G= (n.*447G=) c.1122G= (p.Lys374=) c.1284G= (p.Lys428=) | |
| X | g.50086585G>T | CA413185562 | CLCN5 | c.1272G>T (p.Lys424Asn) c.522G>T (p.Lys174Asn) c.1062G>T (p.Lys354Asn) c.1559G>T c.*447G>T (n.*447G>T) c.1122G>T (p.Lys374Asn) c.1284G>T (p.Lys428Asn) | |
| X | g.50086586T>A | CA413185563 | CLCN5 | c.1273T>A (p.Tyr425Asn) c.523T>A (p.Tyr175Asn) c.1063T>A (p.Tyr355Asn) c.1560T>A c.*448T>A (n.*448T>A) c.1123T>A (p.Tyr375Asn) c.1285T>A (p.Tyr429Asn) | |
| X | g.50086586T>C | CA413185564 | CLCN5 | c.1273T>C (p.Tyr425His) c.523T>C (p.Tyr175His) c.1063T>C (p.Tyr355His) c.1560T>C c.*448T>C (n.*448T>C) c.1123T>C (p.Tyr375His) c.1285T>C (p.Tyr429His) | |
| X | g.50086586T>G | CA413185565 | CLCN5 | c.1273T>G (p.Tyr425Asp) c.523T>G (p.Tyr175Asp) c.1063T>G (p.Tyr355Asp) c.1560T>G c.*448T>G (n.*448T>G) c.1123T>G (p.Tyr375Asp) c.1285T>G (p.Tyr429Asp) | |
| X | g.50086587A= | CA2428768912 | CLCN5 | c.1274A= (p.Tyr425=) c.524A= (p.Tyr175=) c.1064A= (p.Tyr355=) c.1561A= c.*449A= (n.*449A=) c.1124A= (p.Tyr375=) c.1286A= (p.Tyr429=) | |
| X | g.50086587A>C | CA413185566 | CLCN5 | c.1274A>C (p.Tyr425Ser) c.524A>C (p.Tyr175Ser) c.1064A>C (p.Tyr355Ser) c.1561A>C c.*449A>C (n.*449A>C) c.1124A>C (p.Tyr375Ser) c.1286A>C (p.Tyr429Ser) | |
| X | g.50086587A>G | CA10413856 | CLCN5 | c.1274A>G (p.Tyr425Cys) c.524A>G (p.Tyr175Cys) c.1064A>G (p.Tyr355Cys) c.1561A>G c.*449A>G (n.*449A>G) c.1124A>G (p.Tyr375Cys) c.1286A>G (p.Tyr429Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086587A>T | CA413185567 | CLCN5 | c.1274A>T (p.Tyr425Phe) c.524A>T (p.Tyr175Phe) c.1064A>T (p.Tyr355Phe) c.1561A>T c.*449A>T (n.*449A>T) c.1124A>T (p.Tyr375Phe) c.1286A>T (p.Tyr429Phe) | |
| X | g.50086588T>A | CA413185568 | CLCN5 | c.1275T>A (p.Tyr425Ter) c.525T>A (p.Tyr175Ter) c.1065T>A (p.Tyr355Ter) c.1562T>A c.*450T>A (n.*450T>A) c.1125T>A (p.Tyr375Ter) c.1287T>A (p.Tyr429Ter) | |
| X | g.50086588T>C | CA516678557 | CLCN5 | c.1275T>C (p.Tyr425=) c.525T>C (p.Tyr175=) c.1065T>C (p.Tyr355=) c.1562T>C c.*450T>C (n.*450T>C) c.1125T>C (p.Tyr375=) c.1287T>C (p.Tyr429=) | dbSNP |
| X | g.50086588T>G | CA413185569 | CLCN5 | c.1275T>G (p.Tyr425Ter) c.525T>G (p.Tyr175Ter) c.1065T>G (p.Tyr355Ter) c.1562T>G c.*450T>G (n.*450T>G) c.1125T>G (p.Tyr375Ter) c.1287T>G (p.Tyr429Ter) | |
| X | g.50086588T= | CA2428768913 | CLCN5 | c.1275T= (p.Tyr425=) c.525T= (p.Tyr175=) c.1065T= (p.Tyr355=) c.1562T= c.*450T= (n.*450T=) c.1125T= (p.Tyr375=) c.1287T= (p.Tyr429=) | |
| X | g.50086589C>A | CA413185570 | CLCN5 | c.1276C>A (p.Pro426Thr) c.526C>A (p.Pro176Thr) c.1066C>A (p.Pro356Thr) c.1563C>A c.*451C>A (n.*451C>A) c.1126C>A (p.Pro376Thr) c.1288C>A (p.Pro430Thr) | gnomAD v4 |
| X | g.50086589C>G | CA413185571 | CLCN5 | c.1276C>G (p.Pro426Ala) c.526C>G (p.Pro176Ala) c.1066C>G (p.Pro356Ala) c.1563C>G c.*451C>G (n.*451C>G) c.1126C>G (p.Pro376Ala) c.1288C>G (p.Pro430Ala) | |
| X | g.50086589C>T | CA413185572 | CLCN5 | c.1276C>T (p.Pro426Ser) c.526C>T (p.Pro176Ser) c.1066C>T (p.Pro356Ser) c.1563C>T c.*451C>T (n.*451C>T) c.1126C>T (p.Pro376Ser) c.1288C>T (p.Pro430Ser) | |
| X | g.50086590C>A | CA413185575 | CLCN5 | c.1277C>A (p.Pro426His) c.527C>A (p.Pro176His) c.1067C>A (p.Pro356His) c.1564C>A c.*452C>A (n.*452C>A) c.1127C>A (p.Pro376His) c.1289C>A (p.Pro430His) | |
| X | g.50086590C>G | CA413185574 | CLCN5 | c.1277C>G (p.Pro426Arg) c.527C>G (p.Pro176Arg) c.1067C>G (p.Pro356Arg) c.1564C>G c.*452C>G (n.*452C>G) c.1127C>G (p.Pro376Arg) c.1289C>G (p.Pro430Arg) | |
| X | g.50086590C>T | CA413185573 | CLCN5 | c.1277C>T (p.Pro426Leu) c.527C>T (p.Pro176Leu) c.1067C>T (p.Pro356Leu) c.1564C>T c.*452C>T (n.*452C>T) c.1127C>T (p.Pro376Leu) c.1289C>T (p.Pro430Leu) | gnomAD v4 |
| X | g.50086591T>A | CA516678559 | CLCN5 | c.1278T>A (p.Pro426=) c.528T>A (p.Pro176=) c.1068T>A (p.Pro356=) c.1565T>A c.*453T>A (n.*453T>A) c.1128T>A (p.Pro376=) c.1290T>A (p.Pro430=) | |
| X | g.50086591T>C | CA516678563 | CLCN5 | c.1278T>C (p.Pro426=) c.528T>C (p.Pro176=) c.1068T>C (p.Pro356=) c.1565T>C c.*453T>C (n.*453T>C) c.1128T>C (p.Pro376=) c.1290T>C (p.Pro430=) | |
| X | g.50086591T>G | CA516678561 | CLCN5 | c.1278T>G (p.Pro426=) c.528T>G (p.Pro176=) c.1068T>G (p.Pro356=) c.1565T>G c.*453T>G (n.*453T>G) c.1128T>G (p.Pro376=) c.1290T>G (p.Pro430=) | |
| X | g.50086592G>A | CA413185576 | CLCN5 | c.1279G>A (p.Val427Ile) c.529G>A (p.Val177Ile) c.1069G>A (p.Val357Ile) c.1566G>A c.*454G>A (n.*454G>A) c.1129G>A (p.Val377Ile) c.1291G>A (p.Val431Ile) | |
| X | g.50086592G>C | CA413185577 | CLCN5 | c.1279G>C (p.Val427Leu) c.529G>C (p.Val177Leu) c.1069G>C (p.Val357Leu) c.1566G>C c.*454G>C (n.*454G>C) c.1129G>C (p.Val377Leu) c.1291G>C (p.Val431Leu) | |
| X | g.50086592G>T | CA413185578 | CLCN5 | c.1279G>T (p.Val427Phe) c.529G>T (p.Val177Phe) c.1069G>T (p.Val357Phe) c.1566G>T c.*454G>T (n.*454G>T) c.1129G>T (p.Val377Phe) c.1291G>T (p.Val431Phe) | |
| X | g.50086593T>A | CA413185579 | CLCN5 | c.1280T>A (p.Val427Asp) c.530T>A (p.Val177Asp) c.1070T>A (p.Val357Asp) c.1567T>A c.*455T>A (n.*455T>A) c.1130T>A (p.Val377Asp) c.1292T>A (p.Val431Asp) | |
| X | g.50086593T>C | CA413185580 | CLCN5 | c.1280T>C (p.Val427Ala) c.530T>C (p.Val177Ala) c.1070T>C (p.Val357Ala) c.1567T>C c.*455T>C (n.*455T>C) c.1130T>C (p.Val377Ala) c.1292T>C (p.Val431Ala) | |
| X | g.50086593T>G | CA413185581 | CLCN5 | c.1280T>G (p.Val427Gly) c.530T>G (p.Val177Gly) c.1070T>G (p.Val357Gly) c.1567T>G c.*455T>G (n.*455T>G) c.1130T>G (p.Val377Gly) c.1292T>G (p.Val431Gly) | |
| X | g.50086594T>A | CA516678566 | CLCN5 | c.1281T>A (p.Val427=) c.531T>A (p.Val177=) c.1071T>A (p.Val357=) c.1568T>A c.*456T>A (n.*456T>A) c.1131T>A (p.Val377=) c.1293T>A (p.Val431=) | |
| X | g.50086594T>C | CA516678567 | CLCN5 | c.1281T>C (p.Val427=) c.531T>C (p.Val177=) c.1071T>C (p.Val357=) c.1568T>C c.*456T>C (n.*456T>C) c.1131T>C (p.Val377=) c.1293T>C (p.Val431=) | |
| X | g.50086594T>G | CA516678568 | CLCN5 | c.1281T>G (p.Val427=) c.531T>G (p.Val177=) c.1071T>G (p.Val357=) c.1568T>G c.*456T>G (n.*456T>G) c.1131T>G (p.Val377=) c.1293T>G (p.Val431=) | |
| X | g.50086595A= | CA2428768914 | CLCN5 | c.1282A= (p.Ile428=) c.532A= (p.Ile178=) c.1072A= (p.Ile358=) c.1569A= c.*457A= (n.*457A=) c.1132A= (p.Ile378=) c.1294A= (p.Ile432=) | |
| X | g.50086595A>C | CA10413857 | CLCN5 | c.1282A>C (p.Ile428Leu) c.532A>C (p.Ile178Leu) c.1072A>C (p.Ile358Leu) c.1569A>C c.*457A>C (n.*457A>C) c.1132A>C (p.Ile378Leu) c.1294A>C (p.Ile432Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086595A>G | CA413185582 | CLCN5 | c.1282A>G (p.Ile428Val) c.532A>G (p.Ile178Val) c.1072A>G (p.Ile358Val) c.1569A>G c.*457A>G (n.*457A>G) c.1132A>G (p.Ile378Val) c.1294A>G (p.Ile432Val) | |
| X | g.50086595A>T | CA413185583 | CLCN5 | c.1282A>T (p.Ile428Leu) c.532A>T (p.Ile178Leu) c.1072A>T (p.Ile358Leu) c.1569A>T c.*457A>T (n.*457A>T) c.1132A>T (p.Ile378Leu) c.1294A>T (p.Ile432Leu) | |
| X | g.50086596T>A | CA413185584 | CLCN5 | c.1283T>A (p.Ile428Lys) c.533T>A (p.Ile178Lys) c.1073T>A (p.Ile358Lys) c.1570T>A c.*458T>A (n.*458T>A) c.1133T>A (p.Ile378Lys) c.1295T>A (p.Ile432Lys) | |
| X | g.50086596T>C | CA413185585 | CLCN5 | c.1283T>C (p.Ile428Thr) c.533T>C (p.Ile178Thr) c.1073T>C (p.Ile358Thr) c.1570T>C c.*458T>C (n.*458T>C) c.1133T>C (p.Ile378Thr) c.1295T>C (p.Ile432Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086596T>G | CA413185586 | CLCN5 | c.1283T>G (p.Ile428Arg) c.533T>G (p.Ile178Arg) c.1073T>G (p.Ile358Arg) c.1570T>G c.*458T>G (n.*458T>G) c.1133T>G (p.Ile378Arg) c.1295T>G (p.Ile432Arg) | |
| X | g.50086596T= | CA2428768915 | CLCN5 | c.1283T= (p.Ile428=) c.533T= (p.Ile178=) c.1073T= (p.Ile358=) c.1570T= c.*458T= (n.*458T=) c.1133T= (p.Ile378=) c.1295T= (p.Ile432=) | |
| X | g.50086597A= | CA2428768916 | CLCN5 | c.1284A= (p.Ile428=) c.534A= (p.Ile178=) c.1074A= (p.Ile358=) c.1571A= c.*459A= (n.*459A=) c.1134A= (p.Ile378=) c.1296A= (p.Ile432=) | |
| X | g.50086597A>C | CA516678573 | CLCN5 | c.1284A>C (p.Ile428=) c.534A>C (p.Ile178=) c.1074A>C (p.Ile358=) c.1571A>C c.*459A>C (n.*459A>C) c.1134A>C (p.Ile378=) c.1296A>C (p.Ile432=) | |
| X | g.50086597A>G | CA413185588 | CLCN5 | c.1284A>G (p.Ile428Met) c.534A>G (p.Ile178Met) c.1074A>G (p.Ile358Met) c.1571A>G c.*459A>G (n.*459A>G) c.1134A>G (p.Ile378Met) c.1296A>G (p.Ile432Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086597A>T | CA516678574 | CLCN5 | c.1284A>T (p.Ile428=) c.534A>T (p.Ile178=) c.1074A>T (p.Ile358=) c.1571A>T c.*459A>T (n.*459A>T) c.1134A>T (p.Ile378=) c.1296A>T (p.Ile432=) | |
| X | g.50086598G>A | CA413185590 | CLCN5 | c.1285G>A (p.Glu429Lys) c.535G>A (p.Glu179Lys) c.1075G>A (p.Glu359Lys) c.1572G>A c.*460G>A (n.*460G>A) c.1135G>A (p.Glu379Lys) c.1297G>A (p.Glu433Lys) | |
| X | g.50086598G>C | CA413185591 | CLCN5 | c.1285G>C (p.Glu429Gln) c.535G>C (p.Glu179Gln) c.1075G>C (p.Glu359Gln) c.1572G>C c.*460G>C (n.*460G>C) c.1135G>C (p.Glu379Gln) c.1297G>C (p.Glu433Gln) | |
| X | g.50086598G>T | CA413185589 | CLCN5 | c.1285G>T (p.Glu429Ter) c.535G>T (p.Glu179Ter) c.1075G>T (p.Glu359Ter) c.1572G>T c.*460G>T (n.*460G>T) c.1135G>T (p.Glu379Ter) c.1297G>T (p.Glu433Ter) | COSMIC COSMIC |
| X | g.50086599A>C | CA413185592 | CLCN5 | c.1286A>C (p.Glu429Ala) c.536A>C (p.Glu179Ala) c.1076A>C (p.Glu359Ala) c.1573A>C c.*461A>C (n.*461A>C) c.1136A>C (p.Glu379Ala) c.1298A>C (p.Glu433Ala) | |
| X | g.50086599A>G | CA413185594 | CLCN5 | c.1286A>G (p.Glu429Gly) c.536A>G (p.Glu179Gly) c.1076A>G (p.Glu359Gly) c.1573A>G c.*461A>G (n.*461A>G) c.1136A>G (p.Glu379Gly) c.1298A>G (p.Glu433Gly) | |
| X | g.50086599A>T | CA413185593 | CLCN5 | c.1286A>T (p.Glu429Val) c.536A>T (p.Glu179Val) c.1076A>T (p.Glu359Val) c.1573A>T c.*461A>T (n.*461A>T) c.1136A>T (p.Glu379Val) c.1298A>T (p.Glu433Val) | |
| 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 |