| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301150_6301166delinsAGCCCTACACGCGCAGG | CA1435772774 | WFS1 | c.1391_1407delinsAGCCCTACACGCGCAGG (p.Glu464=) c.1332_1348delinsAGCCCTACACGCGCAGG c.1355_1371delinsAGCCCTACACGCGCAGG (p.Glu452=) c.1106_1122delinsAGCCCTACACGCGCAGG (p.Glu369=) c.1014_1030delinsAGCCCTACACGCGCAGG (p.Arg338=) n.1540_1556delinsAGCCCTACACGCGCAGG c.1364_1380delinsAGCCCTACACGCGCAGG (p.Glu455=) | |
| 4 | g.6301156_6301171del | CA1435772776 | WFS1 | c.1397_1412del (p.Tyr466TrpfsTer18) c.1338_1353del c.1361_1376del (p.Tyr454TrpfsTer18) c.1112_1127del (p.Tyr371TrpfsTer18) c.1020_1035del (p.His341AlafsTer?) n.1546_1561del c.1370_1385del (p.Tyr457TrpfsTer18) | dbSNP gnomAD v4 |
| 4 | g.6301156_6301172delinsACACGCGCAGGGCCCTG | CA1435772781 | WFS1 | c.1397_1413delinsACACGCGCAGGGCCCTG (p.Tyr466=) c.1338_1354delinsACACGCGCAGGGCCCTG c.1361_1377delinsACACGCGCAGGGCCCTG (p.Tyr454=) c.1112_1128delinsACACGCGCAGGGCCCTG (p.Tyr371=) c.1020_1036delinsACACGCGCAGGGCCCTG (p.Leu340=) n.1546_1562delinsACACGCGCAGGGCCCTG c.1370_1386delinsACACGCGCAGGGCCCTG (p.Tyr457=) | |
| 4 | g.6301157_6301172del | CA658820915 | WFS1 | c.1398_1413del (p.Tyr466Ter) c.1339_1354del c.1362_1377del (p.Tyr454Ter) c.1113_1128del (p.Tyr371Ter) c.1021_1036del (p.His341AlafsTer?) n.1547_1562del c.1371_1386del (p.Tyr457Ter) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301162_6301177del | CA2586973621 | WFS1 | c.1403_1418del (p.Arg468ProfsTer16) c.1344_1359del c.1367_1382del (p.Arg456ProfsTer16) c.1118_1133del (p.Arg373ProfsTer16) c.1026_1041del (p.Gln343GlufsTer?) n.1552_1567del c.1376_1391del (p.Arg459ProfsTer16) | |
| 4 | g.6301166G>A | CA438368611 | WFS1 | c.1407G>A (p.Arg469=) c.1348G>A c.1371G>A (p.Arg457=) c.1122G>A (p.Arg374=) c.1030G>A (p.Gly344Ser) n.1556G>A c.1380G>A (p.Arg460=) | COSMIC |
| 4 | g.6301166G>C | CA356174774 | WFS1 | c.1407G>C (p.Arg469Ser) c.1348G>C c.1371G>C (p.Arg457Ser) c.1122G>C (p.Arg374Ser) c.1030G>C (p.Gly344Arg) n.1556G>C c.1380G>C (p.Arg460Ser) | |
| 4 | g.6301166G= | CA1435772803 | WFS1 | c.1407G= (p.Arg469=) c.1348G= c.1371G= (p.Arg457=) c.1122G= (p.Arg374=) c.1030G= (p.Gly344=) n.1556G= c.1380G= (p.Arg460=) | |
| 4 | g.6301166G>T | CA320009 | WFS1 | c.1407G>T (p.Arg469Ser) c.1348G>T c.1371G>T (p.Arg457Ser) c.1122G>T (p.Arg374Ser) c.1030G>T (p.Gly344Cys) n.1556G>T c.1380G>T (p.Arg460Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301167G>A | CA356174775 | WFS1 | c.1408G>A (p.Ala470Thr) c.1349G>A c.1372G>A (p.Ala458Thr) c.1123G>A (p.Ala375Thr) c.1031G>A (p.Gly344Asp) n.1557G>A c.1381G>A (p.Ala461Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301167G>C | CA356174776 | WFS1 | c.1408G>C (p.Ala470Pro) c.1349G>C c.1372G>C (p.Ala458Pro) c.1123G>C (p.Ala375Pro) c.1031G>C (p.Gly344Ala) n.1557G>C c.1381G>C (p.Ala461Pro) | |
| 4 | g.6301167G= | CA1435772806 | WFS1 | c.1408G= (p.Ala470=) c.1349G= c.1372G= (p.Ala458=) c.1123G= (p.Ala375=) c.1031G= (p.Gly344=) n.1557G= c.1381G= (p.Ala461=) | |
| 4 | g.6301167G>T | CA356174777 | WFS1 | c.1408G>T (p.Ala470Ser) c.1349G>T c.1372G>T (p.Ala458Ser) c.1123G>T (p.Ala375Ser) c.1031G>T (p.Gly344Val) n.1557G>T c.1381G>T (p.Ala461Ser) | dbSNP gnomAD v4 |
| 4 | g.6301168C>A | CA356174778 | WFS1 | c.1409C>A (p.Ala470Asp) c.1350C>A c.1373C>A (p.Ala458Asp) c.1124C>A (p.Ala375Asp) c.1032C>A (p.Gly344=) n.1558C>A c.1382C>A (p.Ala461Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301168C= | CA1435772808 | WFS1 | c.1409C= (p.Ala470=) c.1350C= c.1373C= (p.Ala458=) c.1124C= (p.Ala375=) c.1032C= (p.Gly344=) n.1558C= c.1382C= (p.Ala461=) | |
| 4 | g.6301168C>G | CA356174779 | WFS1 | c.1409C>G (p.Ala470Gly) c.1350C>G c.1373C>G (p.Ala458Gly) c.1124C>G (p.Ala375Gly) c.1032C>G (p.Gly344=) n.1558C>G c.1382C>G (p.Ala461Gly) | |
| 4 | g.6301168C>T | CA356174780 | WFS1 | c.1409C>T (p.Ala470Val) c.1350C>T c.1373C>T (p.Ala458Val) c.1124C>T (p.Ala375Val) c.1032C>T (p.Gly344=) n.1558C>T c.1382C>T (p.Ala461Val) | gnomAD v4 |
| 4 | g.6301169C>A | CA438368615 | WFS1 | c.1410C>A (p.Ala470=) c.1351C>A c.1374C>A (p.Ala458=) c.1125C>A (p.Ala375=) c.1033C>A (p.Pro345Thr) n.1559C>A c.1383C>A (p.Ala461=) | gnomAD v4 |
| 4 | g.6301169C>G | CA438368617 | WFS1 | c.1410C>G (p.Ala470=) c.1351C>G c.1374C>G (p.Ala458=) c.1125C>G (p.Ala375=) c.1033C>G (p.Pro345Ala) n.1559C>G c.1383C>G (p.Ala461=) | |
| 4 | g.6301169C>T | CA438368619 | WFS1 | c.1410C>T (p.Ala470=) c.1351C>T c.1374C>T (p.Ala458=) c.1125C>T (p.Ala375=) c.1033C>T (p.Pro345Ser) n.1559C>T c.1383C>T (p.Ala461=) | gnomAD v4 |
| 4 | g.6301170C>A | CA356174782 | WFS1 | c.1411C>A (p.Leu471Met) c.1352C>A c.1375C>A (p.Leu459Met) c.1126C>A (p.Leu376Met) c.1034C>A (p.Pro345His) n.1560C>A c.1384C>A (p.Leu462Met) | |
| 4 | g.6301170C= | CA1435772810 | WFS1 | c.1411C= (p.Leu471=) c.1352C= c.1375C= (p.Leu459=) c.1126C= (p.Leu376=) c.1034C= (p.Pro345=) n.1560C= c.1384C= (p.Leu462=) | |
| 4 | g.6301170C>G | CA356174781 | WFS1 | c.1411C>G (p.Leu471Val) c.1352C>G c.1375C>G (p.Leu459Val) c.1126C>G (p.Leu376Val) c.1034C>G (p.Pro345Arg) n.1560C>G c.1384C>G (p.Leu462Val) | dbSNP |
| 4 | g.6301170C>T | CA91796257 | WFS1 | c.1411C>T (p.Leu471=) c.1352C>T c.1375C>T (p.Leu459=) c.1126C>T (p.Leu376=) c.1034C>T (p.Pro345Leu) n.1560C>T c.1384C>T (p.Leu462=) | dbSNP gnomAD v4 |
| 4 | g.6301171T>A | CA356174783 | WFS1 | c.1412T>A (p.Leu471Gln) c.1353T>A c.1376T>A (p.Leu459Gln) c.1127T>A (p.Leu376Gln) c.1035T>A (p.Pro345=) n.1561T>A c.1385T>A (p.Leu462Gln) | |
| 4 | g.6301171T>C | CA356174785 | WFS1 | c.1412T>C (p.Leu471Pro) c.1353T>C c.1376T>C (p.Leu459Pro) c.1127T>C (p.Leu376Pro) c.1035T>C (p.Pro345=) n.1561T>C c.1385T>C (p.Leu462Pro) | |
| 4 | g.6301171T>G | CA356174784 | WFS1 | c.1412T>G (p.Leu471Arg) c.1353T>G c.1376T>G (p.Leu459Arg) c.1127T>G (p.Leu376Arg) c.1035T>G (p.Pro345=) n.1561T>G c.1385T>G (p.Leu462Arg) | |
| 4 | g.6301172G>A | CA2839324 | WFS1 | c.1413G>A (p.Leu471=) c.1354G>A c.1377G>A (p.Leu459=) c.1128G>A (p.Leu376=) c.1036G>A (p.Gly346Ser) n.1562G>A c.1386G>A (p.Leu462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301172G>C | CA438368622 | WFS1 | c.1413G>C (p.Leu471=) c.1354G>C c.1377G>C (p.Leu459=) c.1128G>C (p.Leu376=) c.1036G>C (p.Gly346Arg) n.1562G>C c.1386G>C (p.Leu462=) | ClinVar gnomAD v4 |
| 4 | g.6301172G= | CA1435772811 | WFS1 | c.1413G= (p.Leu471=) c.1354G= c.1377G= (p.Leu459=) c.1128G= (p.Leu376=) c.1036G= (p.Gly346=) n.1562G= c.1386G= (p.Leu462=) | |
| 4 | g.6301172G>T | CA438368624 | WFS1 | c.1413G>T (p.Leu471=) c.1354G>T c.1377G>T (p.Leu459=) c.1128G>T (p.Leu376=) c.1036G>T (p.Gly346Cys) n.1562G>T c.1386G>T (p.Leu462=) | gnomAD v4 |
| 4 | g.6301173G>A | CA2839325 | WFS1 | c.1414G>A (p.Ala472Thr) c.1355G>A c.1378G>A (p.Ala460Thr) c.1129G>A (p.Ala377Thr) c.1037G>A (p.Gly346Asp) n.1563G>A c.1387G>A (p.Ala463Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301173G>C | CA356174786 | WFS1 | c.1414G>C (p.Ala472Pro) c.1355G>C c.1378G>C (p.Ala460Pro) c.1129G>C (p.Ala377Pro) c.1037G>C (p.Gly346Ala) n.1563G>C c.1387G>C (p.Ala463Pro) | dbSNP gnomAD v2 |
| 4 | g.6301173G= | CA1435772813 | WFS1 | c.1414G= (p.Ala472=) c.1355G= c.1378G= (p.Ala460=) c.1129G= (p.Ala377=) c.1037G= (p.Gly346=) n.1563G= c.1387G= (p.Ala463=) | |
| 4 | g.6301173G>T | CA356174787 | WFS1 | c.1414G>T (p.Ala472Ser) c.1355G>T c.1378G>T (p.Ala460Ser) c.1129G>T (p.Ala377Ser) c.1037G>T (p.Gly346Val) n.1563G>T c.1387G>T (p.Ala463Ser) | gnomAD v4 |
| 4 | g.6301174C>A | CA356174788 | WFS1 | c.1415C>A (p.Ala472Asp) c.1356C>A c.1379C>A (p.Ala460Asp) c.1130C>A (p.Ala377Asp) c.1038C>A (p.Gly346=) n.1564C>A c.1388C>A (p.Ala463Asp) | |
| 4 | g.6301174C= | CA1435772815 | WFS1 | c.1415C= (p.Ala472=) c.1356C= c.1379C= (p.Ala460=) c.1130C= (p.Ala377=) c.1038C= (p.Gly346=) n.1564C= c.1388C= (p.Ala463=) | |
| 4 | g.6301174C>G | CA91796258 | WFS1 | c.1415C>G (p.Ala472Gly) c.1356C>G c.1379C>G (p.Ala460Gly) c.1130C>G (p.Ala377Gly) c.1038C>G (p.Gly346=) n.1564C>G c.1388C>G (p.Ala463Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301174C>T | CA91796259 | WFS1 | c.1415C>T (p.Ala472Val) c.1356C>T c.1379C>T (p.Ala460Val) c.1130C>T (p.Ala377Val) c.1038C>T (p.Gly346=) n.1564C>T c.1388C>T (p.Ala463Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301175del | CA2669843432 | WFS1 | c.1416del (p.Thr473ProfsTer16) c.1357del c.1380del (p.Thr461ProfsTer16) c.1131del (p.Thr378ProfsTer16) c.1039del (p.His347ThrfsTer?) n.1565del c.1389del (p.Thr464ProfsTer16) | gnomAD v4 |
| 4 | g.6301176_6301178del | CA2580616072 | WFS1 | c.1417_1419del (p.Thr473del) c.1358_1360del c.1381_1383del (p.Thr461del) c.1132_1134del (p.Thr378del) c.1040_1042del (p.His347del) n.1566_1568del c.1390_1392del (p.Thr464del) | ClinVar |
| 4 | g.6301174_6301183delinsCCACCGAGGT | CA1435772817 | WFS1 | c.1415_1424delinsCCACCGAGGT (p.Ala472=) c.1356_1365delinsCCACCGAGGT c.1379_1388delinsCCACCGAGGT (p.Ala460=) c.1130_1139delinsCCACCGAGGT (p.Ala377=) c.1038_1047delinsCCACCGAGGT (p.Gly346=) n.1564_1573delinsCCACCGAGGT c.1388_1397delinsCCACCGAGGT (p.Ala463=) | |
| 4 | g.6301175C>A | CA438368625 | WFS1 | c.1416C>A (p.Ala472=) c.1357C>A c.1380C>A (p.Ala460=) c.1131C>A (p.Ala377=) c.1039C>A (p.His347Asn) n.1565C>A c.1389C>A (p.Ala463=) | |
| 4 | g.6301175C>G | CA438368626 | WFS1 | c.1416C>G (p.Ala472=) c.1357C>G c.1380C>G (p.Ala460=) c.1131C>G (p.Ala377=) c.1039C>G (p.His347Asp) n.1565C>G c.1389C>G (p.Ala463=) | gnomAD v4 |
| 4 | g.6301175C>T | CA438368627 | WFS1 | c.1416C>T (p.Ala472=) c.1357C>T c.1380C>T (p.Ala460=) c.1131C>T (p.Ala377=) c.1039C>T (p.His347Tyr) n.1565C>T c.1389C>T (p.Ala463=) | gnomAD v4 |
| 4 | g.6301180_6301188del | CA658820916 | WFS1 | c.1421_1429del (p.Glu474_Thr476del) c.1362_1370del c.1385_1393del (p.Glu462_Thr464del) c.1136_1144del (p.Glu379_Thr381del) c.1044_1052del (p.Gly349_Arg351del) n.1570_1578del c.1394_1402del (p.Glu465_Thr467del) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301176A= | CA1435772820 | WFS1 | c.1417A= (p.Thr473=) c.1358A= c.1381A= (p.Thr461=) c.1132A= (p.Thr378=) c.1040A= (p.His347=) n.1566A= c.1390A= (p.Thr464=) | |
| 4 | g.6301176A>C | CA356174789 | WFS1 | c.1417A>C (p.Thr473Pro) c.1358A>C c.1381A>C (p.Thr461Pro) c.1132A>C (p.Thr378Pro) c.1040A>C (p.His347Pro) n.1566A>C c.1390A>C (p.Thr464Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301176A>G | CA2839326 | WFS1 | c.1417A>G (p.Thr473Ala) c.1358A>G c.1381A>G (p.Thr461Ala) c.1132A>G (p.Thr378Ala) c.1040A>G (p.His347Arg) n.1566A>G c.1390A>G (p.Thr464Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301176A>T | CA356174790 | WFS1 | c.1417A>T (p.Thr473Ser) c.1358A>T c.1381A>T (p.Thr461Ser) c.1132A>T (p.Thr378Ser) c.1040A>T (p.His347Leu) n.1566A>T c.1390A>T (p.Thr464Ser) | gnomAD v4 |
| 4 | g.6301177C>A | CA356174791 | WFS1 | c.1418C>A (p.Thr473Asn) c.1359C>A c.1382C>A (p.Thr461Asn) c.1133C>A (p.Thr378Asn) c.1041C>A (p.His347Gln) n.1567C>A c.1391C>A (p.Thr464Asn) | |
| 4 | g.6301177C= | CA1435772826 | WFS1 | c.1418C= (p.Thr473=) c.1359C= c.1382C= (p.Thr461=) c.1133C= (p.Thr378=) c.1041C= (p.His347=) n.1567C= c.1391C= (p.Thr464=) | |
| 4 | g.6301177C>G | CA91796260 | WFS1 | c.1418C>G (p.Thr473Ser) c.1359C>G c.1382C>G (p.Thr461Ser) c.1133C>G (p.Thr378Ser) c.1041C>G (p.His347Gln) n.1567C>G c.1391C>G (p.Thr464Ser) | dbSNP |
| 4 | g.6301177C>T | CA10576638 | WFS1 | c.1418C>T (p.Thr473Ile) c.1359C>T c.1382C>T (p.Thr461Ile) c.1133C>T (p.Thr378Ile) c.1041C>T (p.His347=) n.1567C>T c.1391C>T (p.Thr464Ile) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301178C>A | CA438368760 | WFS1 | c.1419C>A (p.Thr473=) c.1360C>A c.1383C>A (p.Thr461=) c.1134C>A (p.Thr378=) c.1042C>A (p.Arg348=) n.1568C>A c.1392C>A (p.Thr464=) | gnomAD v4 |
| 4 | g.6301178C= | CA1435772827 | WFS1 | c.1419C= (p.Thr473=) c.1360C= c.1383C= (p.Thr461=) c.1134C= (p.Thr378=) c.1042C= (p.Arg348=) n.1568C= c.1392C= (p.Thr464=) | |
| 4 | g.6301178C>G | CA438368765 | WFS1 | c.1419C>G (p.Thr473=) c.1360C>G c.1383C>G (p.Thr461=) c.1134C>G (p.Thr378=) c.1042C>G (p.Arg348Gly) n.1568C>G c.1392C>G (p.Thr464=) | dbSNP gnomAD v4 |
| 4 | g.6301178C>T | CA2839327 | WFS1 | c.1419C>T (p.Thr473=) c.1360C>T c.1383C>T (p.Thr461=) c.1134C>T (p.Thr378=) c.1042C>T (p.Arg348Ter) n.1568C>T c.1392C>T (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301179G>A | CA356174792 | WFS1 | c.1420G>A (p.Glu474Lys) c.1361G>A c.1384G>A (p.Glu462Lys) c.1135G>A (p.Glu379Lys) c.1043G>A (p.Arg348Gln) n.1569G>A c.1393G>A (p.Glu465Lys) | |
| 4 | g.6301179G>C | CA356174793 | WFS1 | c.1420G>C (p.Glu474Gln) c.1361G>C c.1384G>C (p.Glu462Gln) c.1135G>C (p.Glu379Gln) c.1043G>C (p.Arg348Pro) n.1569G>C c.1393G>C (p.Glu465Gln) | |
| 4 | g.6301179G>T | CA356174794 | WFS1 | c.1420G>T (p.Glu474Ter) c.1361G>T c.1384G>T (p.Glu462Ter) c.1135G>T (p.Glu379Ter) c.1043G>T (p.Arg348Leu) n.1569G>T c.1393G>T (p.Glu465Ter) | gnomAD v4 |
| 4 | g.6301180A= | CA1435772829 | WFS1 | c.1421A= (p.Glu474=) c.1362A= c.1385A= (p.Glu462=) c.1136A= (p.Glu379=) c.1044A= (p.Arg348=) n.1570A= c.1394A= (p.Glu465=) | |
| 4 | g.6301180A>C | CA356174795 | WFS1 | c.1421A>C (p.Glu474Ala) c.1362A>C c.1385A>C (p.Glu462Ala) c.1136A>C (p.Glu379Ala) c.1044A>C (p.Arg348=) n.1570A>C c.1394A>C (p.Glu465Ala) | ClinVar dbSNP |
| 4 | g.6301180A>G | CA215002 | WFS1 | c.1421A>G (p.Glu474Gly) c.1362A>G c.1385A>G (p.Glu462Gly) c.1136A>G (p.Glu379Gly) c.1044A>G (p.Arg348=) n.1570A>G c.1394A>G (p.Glu465Gly) | ClinVar dbSNP |
| 4 | g.6301180A>T | CA356174796 | WFS1 | c.1421A>T (p.Glu474Val) c.1362A>T c.1385A>T (p.Glu462Val) c.1136A>T (p.Glu379Val) c.1044A>T (p.Arg348=) n.1570A>T c.1394A>T (p.Glu465Val) | |
| 4 | g.6301181G>A | CA438368775 | WFS1 | c.1422G>A (p.Glu474=) c.1363G>A c.1386G>A (p.Glu462=) c.1137G>A (p.Glu379=) c.1045G>A (p.Gly349Ser) n.1571G>A c.1395G>A (p.Glu465=) | gnomAD v4 |
| 4 | g.6301181G>C | CA356174797 | WFS1 | c.1422G>C (p.Glu474Asp) c.1363G>C c.1386G>C (p.Glu462Asp) c.1137G>C (p.Glu379Asp) c.1045G>C (p.Gly349Arg) n.1571G>C c.1395G>C (p.Glu465Asp) | gnomAD v4 |
| 4 | g.6301181G>T | CA356174798 | WFS1 | c.1422G>T (p.Glu474Asp) c.1363G>T c.1386G>T (p.Glu462Asp) c.1137G>T (p.Glu379Asp) c.1045G>T (p.Gly349Cys) n.1571G>T c.1395G>T (p.Glu465Asp) | gnomAD v4 |
| 4 | g.6301181_6301189dup | CA2839328 | WFS1 | c.1422_1430dup (p.Ala477_Gly478insValThrAla) c.1363_1371dup c.1386_1394dup (p.Ala465_Gly466insValThrAla) c.1137_1145dup (p.Ala382_Gly383insValThrAla) c.1045_1053dup (p.Arg351_Arg352insGlyHisArg) n.1571_1579dup c.1395_1403dup (p.Ala468_Gly469insValThrAla) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301182G>A | CA356174799 | WFS1 | c.1423G>A (p.Val475Ile) c.1364G>A c.1387G>A (p.Val463Ile) c.1138G>A (p.Val380Ile) c.1046G>A (p.Gly349Asp) n.1572G>A c.1396G>A (p.Val466Ile) | gnomAD v4 COSMIC |
| 4 | g.6301182G>C | CA356174800 | WFS1 | c.1423G>C (p.Val475Leu) c.1364G>C c.1387G>C (p.Val463Leu) c.1138G>C (p.Val380Leu) c.1046G>C (p.Gly349Ala) n.1572G>C c.1396G>C (p.Val466Leu) | |
| 4 | g.6301182G= | CA1435772833 | WFS1 | c.1423G= (p.Val475=) c.1364G= c.1387G= (p.Val463=) c.1138G= (p.Val380=) c.1046G= (p.Gly349=) n.1572G= c.1396G= (p.Val466=) | |
| 4 | g.6301182G>T | CA356174801 | WFS1 | c.1423G>T (p.Val475Phe) c.1364G>T c.1387G>T (p.Val463Phe) c.1138G>T (p.Val380Phe) c.1046G>T (p.Gly349Val) n.1572G>T c.1396G>T (p.Val466Phe) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301183T>A | CA356174804 | WFS1 | c.1424T>A (p.Val475Asp) c.1365T>A c.1388T>A (p.Val463Asp) c.1139T>A (p.Val380Asp) c.1047T>A (p.Gly349=) n.1573T>A c.1397T>A (p.Val466Asp) | |
| 4 | g.6301183T>C | CA356174803 | WFS1 | c.1424T>C (p.Val475Ala) c.1365T>C c.1388T>C (p.Val463Ala) c.1139T>C (p.Val380Ala) c.1047T>C (p.Gly349=) n.1573T>C c.1397T>C (p.Val466Ala) | gnomAD v4 |
| 4 | g.6301183T>G | CA356174802 | WFS1 | c.1424T>G (p.Val475Gly) c.1365T>G c.1388T>G (p.Val463Gly) c.1139T>G (p.Val380Gly) c.1047T>G (p.Gly349=) n.1573T>G c.1397T>G (p.Val466Gly) | |
| 4 | g.6301184C>A | CA438368783 | WFS1 | c.1425C>A (p.Val475=) c.1366C>A c.1389C>A (p.Val463=) c.1140C>A (p.Val380=) c.1048C>A (p.His350Asn) n.1574C>A c.1398C>A (p.Val466=) | |
| 4 | g.6301184C= | CA1435772835 | WFS1 | c.1425C= (p.Val475=) c.1366C= c.1389C= (p.Val463=) c.1140C= (p.Val380=) c.1048C= (p.His350=) n.1574C= c.1398C= (p.Val466=) | |
| 4 | g.6301184C>G | CA438368784 | WFS1 | c.1425C>G (p.Val475=) c.1366C>G c.1389C>G (p.Val463=) c.1140C>G (p.Val380=) c.1048C>G (p.His350Asp) n.1574C>G c.1398C>G (p.Val466=) | gnomAD v4 |
| 4 | g.6301184C>T | CA438368785 | WFS1 | c.1425C>T (p.Val475=) c.1366C>T c.1389C>T (p.Val463=) c.1140C>T (p.Val380=) c.1048C>T (p.His350Tyr) n.1574C>T c.1398C>T (p.Val466=) | dbSNP gnomAD v4 |
| 4 | g.6301185A= | CA1435772836 | WFS1 | c.1426A= (p.Thr476=) c.1367A= c.1390A= (p.Thr464=) c.1141A= (p.Thr381=) c.1049A= (p.His350=) n.1575A= c.1399A= (p.Thr467=) | |
| 4 | g.6301185A>C | CA356174805 | WFS1 | c.1426A>C (p.Thr476Pro) c.1367A>C c.1390A>C (p.Thr464Pro) c.1141A>C (p.Thr381Pro) c.1049A>C (p.His350Pro) n.1575A>C c.1399A>C (p.Thr467Pro) | dbSNP |
| 4 | g.6301185A>G | CA356174806 | WFS1 | c.1426A>G (p.Thr476Ala) c.1367A>G c.1390A>G (p.Thr464Ala) c.1141A>G (p.Thr381Ala) c.1049A>G (p.His350Arg) n.1575A>G c.1399A>G (p.Thr467Ala) | dbSNP |
| 4 | g.6301185A>T | CA356174807 | WFS1 | c.1426A>T (p.Thr476Ser) c.1367A>T c.1390A>T (p.Thr464Ser) c.1141A>T (p.Thr381Ser) c.1049A>T (p.His350Leu) n.1575A>T c.1399A>T (p.Thr467Ser) | |
| 4 | g.6301186C>A | CA356174808 | WFS1 | c.1427C>A (p.Thr476Asn) c.1368C>A c.1391C>A (p.Thr464Asn) c.1142C>A (p.Thr381Asn) c.1050C>A (p.His350Gln) n.1576C>A c.1400C>A (p.Thr467Asn) | |
| 4 | g.6301186C= | CA1435772838 | WFS1 | c.1427C= (p.Thr476=) c.1368C= c.1391C= (p.Thr464=) c.1142C= (p.Thr381=) c.1050C= (p.His350=) n.1576C= c.1400C= (p.Thr467=) | |
| 4 | g.6301186C>G | CA2839329 | WFS1 | c.1427C>G (p.Thr476Ser) c.1368C>G c.1391C>G (p.Thr464Ser) c.1142C>G (p.Thr381Ser) c.1050C>G (p.His350Gln) n.1576C>G c.1400C>G (p.Thr467Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301186C>T | CA356174809 | WFS1 | c.1427C>T (p.Thr476Ile) c.1368C>T c.1391C>T (p.Thr464Ile) c.1142C>T (p.Thr381Ile) c.1050C>T (p.His350=) n.1576C>T c.1400C>T (p.Thr467Ile) | gnomAD v4 |
| 4 | g.6301187_6301206del | CA2669843433 | WFS1 | c.1428_1447del (p.Gly478LeufsTer?) c.1369_1388del c.1392_1411del (p.Gly466LeufsTer?) c.1143_1162del (p.Gly383LeufsTer?) c.1051_1070del (p.Arg351CysfsTer6) n.1577_1596del c.1401_1420del (p.Gly469LeufsTer?) | gnomAD v4 |
| 4 | g.6301187C>A | CA438368791 | WFS1 | c.1428C>A (p.Thr476=) c.1369C>A c.1392C>A (p.Thr464=) c.1143C>A (p.Thr381=) c.1051C>A (p.Arg351Ser) n.1577C>A c.1401C>A (p.Thr467=) | gnomAD v4 |
| 4 | g.6301187C= | CA1435772843 | WFS1 | c.1428C= (p.Thr476=) c.1369C= c.1392C= (p.Thr464=) c.1143C= (p.Thr381=) c.1051C= (p.Arg351=) n.1577C= c.1401C= (p.Thr467=) | |
| 4 | g.6301187C>G | CA438368794 | WFS1 | c.1428C>G (p.Thr476=) c.1369C>G c.1392C>G (p.Thr464=) c.1143C>G (p.Thr381=) c.1051C>G (p.Arg351Gly) n.1577C>G c.1401C>G (p.Thr467=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301187C>T | CA179649 | WFS1 | c.1428C>T (p.Thr476=) c.1369C>T c.1392C>T (p.Thr464=) c.1143C>T (p.Thr381=) c.1051C>T (p.Arg351Cys) n.1577C>T c.1401C>T (p.Thr467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301187_6301188insA | CA2760285034 | WFS1 | c.1428_1429insA (p.Ala477SerfsTer?) c.1369_1370insA c.1392_1393insA (p.Ala465SerfsTer?) c.1143_1144insA (p.Ala382SerfsTer?) c.1051_1052insA (p.Arg351GlnfsTer13) n.1577_1578insA c.1401_1402insA (p.Ala468SerfsTer?) | |
| 4 | g.6301188G>A | CA2839330 | WFS1 | c.1429G>A (p.Ala477Thr) c.1370G>A c.1393G>A (p.Ala465Thr) c.1144G>A (p.Ala382Thr) c.1052G>A (p.Arg351His) n.1578G>A c.1402G>A (p.Ala468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301188G>C | CA356174811 | WFS1 | c.1429G>C (p.Ala477Pro) c.1370G>C c.1393G>C (p.Ala465Pro) c.1144G>C (p.Ala382Pro) c.1052G>C (p.Arg351Pro) n.1578G>C c.1402G>C (p.Ala468Pro) | gnomAD v4 |
| 4 | g.6301188G= | CA1435772847 | WFS1 | c.1429G= (p.Ala477=) c.1370G= c.1393G= (p.Ala465=) c.1144G= (p.Ala382=) c.1052G= (p.Arg351=) n.1578G= c.1402G= (p.Ala468=) | |
| 4 | g.6301188G>T | CA356174810 | WFS1 | c.1429G>T (p.Ala477Ser) c.1370G>T c.1393G>T (p.Ala465Ser) c.1144G>T (p.Ala382Ser) c.1052G>T (p.Arg351Leu) n.1578G>T c.1402G>T (p.Ala468Ser) | dbSNP gnomAD v4 |
| 4 | g.6301189C>A | CA356174812 | WFS1 | c.1430C>A (p.Ala477Asp) c.1371C>A c.1394C>A (p.Ala465Asp) c.1145C>A (p.Ala382Asp) c.1053C>A (p.Arg351=) n.1579C>A c.1403C>A (p.Ala468Asp) | |
| 4 | g.6301189C>G | CA356174813 | WFS1 | c.1430C>G (p.Ala477Gly) c.1371C>G c.1394C>G (p.Ala465Gly) c.1145C>G (p.Ala382Gly) c.1053C>G (p.Arg351=) n.1579C>G c.1403C>G (p.Ala468Gly) | ClinVar gnomAD v4 |
| 4 | g.6301189C>T | CA356174814 | WFS1 | c.1430C>T (p.Ala477Val) c.1371C>T c.1394C>T (p.Ala465Val) c.1145C>T (p.Ala382Val) c.1053C>T (p.Arg351=) n.1579C>T c.1403C>T (p.Ala468Val) | gnomAD v4 |
| 4 | g.6301190C>A | CA438368799 | WFS1 | c.1431C>A (p.Ala477=) c.1372C>A c.1395C>A (p.Ala465=) c.1146C>A (p.Ala382=) c.1054C>A (p.Arg352=) n.1580C>A c.1404C>A (p.Ala468=) | gnomAD v4 |
| 4 | g.6301190C= | CA1435772852 | WFS1 | c.1431C= (p.Ala477=) c.1372C= c.1395C= (p.Ala465=) c.1146C= (p.Ala382=) c.1054C= (p.Arg352=) n.1580C= c.1404C= (p.Ala468=) | |
| 4 | g.6301190C>G | CA438368802 | WFS1 | c.1431C>G (p.Ala477=) c.1372C>G c.1395C>G (p.Ala465=) c.1146C>G (p.Ala382=) c.1054C>G (p.Arg352Gly) n.1580C>G c.1404C>G (p.Ala468=) | ClinVar gnomAD v4 |
| 4 | g.6301190C>T | CA2839331 | WFS1 | c.1431C>T (p.Ala477=) c.1372C>T c.1395C>T (p.Ala465=) c.1146C>T (p.Ala382=) c.1054C>T (p.Arg352Trp) n.1580C>T c.1404C>T (p.Ala468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301191G>A | CA179651 | WFS1 | c.1432G>A (p.Gly478Ser) c.1373G>A c.1396G>A (p.Gly466Ser) c.1147G>A (p.Gly383Ser) c.1055G>A (p.Arg352Gln) n.1581G>A c.1405G>A (p.Gly469Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301191G>C | CA356174816 | WFS1 | c.1432G>C (p.Gly478Arg) c.1373G>C c.1396G>C (p.Gly466Arg) c.1147G>C (p.Gly383Arg) c.1055G>C (p.Arg352Pro) n.1581G>C c.1405G>C (p.Gly469Arg) | COSMIC |
| 4 | g.6301191G= | CA1435772858 | WFS1 | c.1432G= (p.Gly478=) c.1373G= c.1396G= (p.Gly466=) c.1147G= (p.Gly383=) c.1055G= (p.Arg352=) n.1581G= c.1405G= (p.Gly469=) | |
| 4 | g.6301191G>T | CA356174815 | WFS1 | c.1432G>T (p.Gly478Cys) c.1373G>T c.1396G>T (p.Gly466Cys) c.1147G>T (p.Gly383Cys) c.1055G>T (p.Arg352Leu) n.1581G>T c.1405G>T (p.Gly469Cys) | dbSNP gnomAD v4 |
| 4 | g.6301192G>A | CA356174817 | WFS1 | c.1433G>A (p.Gly478Asp) c.1374G>A c.1397G>A (p.Gly466Asp) c.1148G>A (p.Gly383Asp) c.1056G>A (p.Arg352=) n.1582G>A c.1406G>A (p.Gly469Asp) | |
| 4 | g.6301192G>C | CA356174818 | WFS1 | c.1433G>C (p.Gly478Ala) c.1374G>C c.1397G>C (p.Gly466Ala) c.1148G>C (p.Gly383Ala) c.1056G>C (p.Arg352=) n.1582G>C c.1406G>C (p.Gly469Ala) | |
| 4 | g.6301192G>T | CA356174819 | WFS1 | c.1433G>T (p.Gly478Val) c.1374G>T c.1397G>T (p.Gly466Val) c.1148G>T (p.Gly383Val) c.1056G>T (p.Arg352=) n.1582G>T c.1406G>T (p.Gly469Val) | gnomAD v4 |
| 4 | g.6301192_6301193delinsGC | CA1435772862 | WFS1 | c.1433_1434delinsGC (p.Gly478=) c.1374_1375delinsGC c.1397_1398delinsGC (p.Gly466=) c.1148_1149delinsGC (p.Gly383=) c.1056_1057delinsGC (p.Arg352=) n.1582_1583delinsGC c.1406_1407delinsGC (p.Gly469=) | |
| 4 | g.6301193C>A | CA2839332 | WFS1 | c.1434C>A (p.Gly478=) c.1375C>A c.1398C>A (p.Gly466=) c.1149C>A (p.Gly383=) c.1057C>A (p.Pro353Thr) n.1583C>A c.1407C>A (p.Gly469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301193C= | CA1435772865 | WFS1 | c.1434C= (p.Gly478=) c.1375C= c.1398C= (p.Gly466=) c.1149C= (p.Gly383=) c.1057C= (p.Pro353=) n.1583C= c.1407C= (p.Gly469=) | |
| 4 | g.6301193C>G | CA438368810 | WFS1 | c.1434C>G (p.Gly478=) c.1375C>G c.1398C>G (p.Gly466=) c.1149C>G (p.Gly383=) c.1057C>G (p.Pro353Ala) n.1583C>G c.1407C>G (p.Gly469=) | |
| 4 | g.6301193C>T | CA2839333 | WFS1 | c.1434C>T (p.Gly478=) c.1375C>T c.1398C>T (p.Gly466=) c.1149C>T (p.Gly383=) c.1057C>T (p.Pro353Ser) n.1583C>T c.1407C>T (p.Gly469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301194del | CA549707914 | WFS1 | c.1435del (p.Leu479CysfsTer10) c.1376del c.1399del (p.Leu467CysfsTer10) c.1150del (p.Leu384CysfsTer10) c.1058del (p.Pro353LeufsTer?) n.1584del c.1408del (p.Leu470CysfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301194C>A | CA356174820 | WFS1 | c.1435C>A (p.Leu479Met) c.1376C>A c.1399C>A (p.Leu467Met) c.1150C>A (p.Leu384Met) c.1058C>A (p.Pro353His) n.1584C>A c.1408C>A (p.Leu470Met) | ClinVar |
| 4 | g.6301194C= | CA1435772868 | WFS1 | c.1435C= (p.Leu479=) c.1376C= c.1399C= (p.Leu467=) c.1150C= (p.Leu384=) c.1058C= (p.Pro353=) n.1584C= c.1408C= (p.Leu470=) | |
| 4 | g.6301194C>G | CA91796261 | WFS1 | c.1435C>G (p.Leu479Val) c.1376C>G c.1399C>G (p.Leu467Val) c.1150C>G (p.Leu384Val) c.1058C>G (p.Pro353Arg) n.1584C>G c.1408C>G (p.Leu470Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301194C>T | CA2839334 | WFS1 | c.1435C>T (p.Leu479=) c.1376C>T c.1399C>T (p.Leu467=) c.1150C>T (p.Leu384=) c.1058C>T (p.Pro353Leu) n.1584C>T c.1408C>T (p.Leu470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301196_6301198del | CA2499217323 | WFS1 | c.1437_1439del (p.Leu480del) c.1378_1380del c.1401_1403del (p.Leu468del) c.1152_1154del (p.Leu385del) c.1060_1062del (p.Ala354del) n.1586_1588del c.1410_1412del (p.Leu471del) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301195T>A | CA356174821 | WFS1 | c.1436T>A (p.Leu479Gln) c.1377T>A c.1400T>A (p.Leu467Gln) c.1151T>A (p.Leu384Gln) c.1059T>A (p.Pro353=) n.1585T>A c.1409T>A (p.Leu470Gln) | |
| 4 | g.6301195T>C | CA356174822 | WFS1 | c.1436T>C (p.Leu479Pro) c.1377T>C c.1400T>C (p.Leu467Pro) c.1151T>C (p.Leu384Pro) c.1059T>C (p.Pro353=) n.1585T>C c.1409T>C (p.Leu470Pro) | |
| 4 | g.6301195T>G | CA356174823 | WFS1 | c.1436T>G (p.Leu479Arg) c.1377T>G c.1400T>G (p.Leu467Arg) c.1151T>G (p.Leu384Arg) c.1059T>G (p.Pro353=) n.1585T>G c.1409T>G (p.Leu470Arg) | ClinVar |
| 4 | g.6301196G>A | CA438368825 | WFS1 | c.1437G>A (p.Leu479=) c.1378G>A c.1401G>A (p.Leu467=) c.1152G>A (p.Leu384=) c.1060G>A (p.Ala354Thr) n.1586G>A c.1410G>A (p.Leu470=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301196G>C | CA438368828 | WFS1 | c.1437G>C (p.Leu479=) c.1378G>C c.1401G>C (p.Leu467=) c.1152G>C (p.Leu384=) c.1060G>C (p.Ala354Pro) n.1586G>C c.1410G>C (p.Leu470=) | |
| 4 | g.6301196G= | CA1435772873 | WFS1 | c.1437G= (p.Leu479=) c.1378G= c.1401G= (p.Leu467=) c.1152G= (p.Leu384=) c.1060G= (p.Ala354=) n.1586G= c.1410G= (p.Leu470=) | |
| 4 | g.6301196G>T | CA438368833 | WFS1 | c.1437G>T (p.Leu479=) c.1378G>T c.1401G>T (p.Leu467=) c.1152G>T (p.Leu384=) c.1060G>T (p.Ala354Ser) n.1586G>T c.1410G>T (p.Leu470=) | gnomAD v4 |
| 4 | g.6301197C>A | CA356174824 | WFS1 | c.1438C>A (p.Leu480Ile) c.1379C>A c.1402C>A (p.Leu468Ile) c.1153C>A (p.Leu385Ile) c.1061C>A (p.Ala354Asp) n.1587C>A c.1411C>A (p.Leu471Ile) | |
| 4 | g.6301197C= | CA1435772875 | WFS1 | c.1438C= (p.Leu480=) c.1379C= c.1402C= (p.Leu468=) c.1153C= (p.Leu385=) c.1061C= (p.Ala354=) n.1587C= c.1411C= (p.Leu471=) | |
| 4 | g.6301197C>G | CA91796262 | WFS1 | c.1438C>G (p.Leu480Val) c.1379C>G c.1402C>G (p.Leu468Val) c.1153C>G (p.Leu385Val) c.1061C>G (p.Ala354Gly) n.1587C>G c.1411C>G (p.Leu471Val) | dbSNP gnomAD v4 |
| 4 | g.6301197C>T | CA91796263 | WFS1 | c.1438C>T (p.Leu480=) c.1379C>T c.1402C>T (p.Leu468=) c.1153C>T (p.Leu385=) c.1061C>T (p.Ala354Val) n.1587C>T c.1411C>T (p.Leu471=) | dbSNP gnomAD v4 |
| 4 | g.6301198T>A | CA356174825 | WFS1 | c.1439T>A (p.Leu480Gln) c.1380T>A c.1403T>A (p.Leu468Gln) c.1154T>A (p.Leu385Gln) c.1062T>A (p.Ala354=) n.1588T>A c.1412T>A (p.Leu471Gln) | |
| 4 | g.6301198T>C | CA356174827 | WFS1 | c.1439T>C (p.Leu480Pro) c.1380T>C c.1403T>C (p.Leu468Pro) c.1154T>C (p.Leu385Pro) c.1062T>C (p.Ala354=) n.1588T>C c.1412T>C (p.Leu471Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301198T>G | CA356174826 | WFS1 | c.1439T>G (p.Leu480Arg) c.1380T>G c.1403T>G (p.Leu468Arg) c.1154T>G (p.Leu385Arg) c.1062T>G (p.Ala354=) n.1588T>G c.1412T>G (p.Leu471Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301198T= | CA1435772878 | WFS1 | c.1439T= (p.Leu480=) c.1380T= c.1403T= (p.Leu468=) c.1154T= (p.Leu385=) c.1062T= (p.Ala354=) n.1588T= c.1412T= (p.Leu471=) | |
| 4 | g.6301198dup | CA2586973622 | WFS1 | c.1439dup (p.Ser481IlefsTer?) c.1380dup c.1403dup (p.Ser469IlefsTer?) c.1154dup (p.Ser386IlefsTer?) c.1062dup (p.Ile355TyrfsTer9) n.1588dup c.1412dup (p.Ser472IlefsTer?) | |
| 4 | g.6301199A= | CA1435772880 | WFS1 | c.1440A= (p.Leu480=) c.1381A= c.1404A= (p.Leu468=) c.1155A= (p.Leu385=) c.1063A= (p.Ile355=) n.1589A= c.1413A= (p.Leu471=) | |
| 4 | g.6301199A>C | CA438368836 | WFS1 | c.1440A>C (p.Leu480=) c.1381A>C c.1404A>C (p.Leu468=) c.1155A>C (p.Leu385=) c.1063A>C (p.Ile355Leu) n.1589A>C c.1413A>C (p.Leu471=) | |
| 4 | g.6301199A>G | CA2839335 | WFS1 | c.1440A>G (p.Leu480=) c.1381A>G c.1404A>G (p.Leu468=) c.1155A>G (p.Leu385=) c.1063A>G (p.Ile355Val) n.1589A>G c.1413A>G (p.Leu471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301199A>T | CA438368837 | WFS1 | c.1440A>T (p.Leu480=) c.1381A>T c.1404A>T (p.Leu468=) c.1155A>T (p.Leu385=) c.1063A>T (p.Ile355Phe) n.1589A>T c.1413A>T (p.Leu471=) | |
| 4 | g.6301200T>A | CA356174830 | WFS1 | c.1441T>A (p.Ser481Thr) c.1382T>A c.1405T>A (p.Ser469Thr) c.1156T>A (p.Ser386Thr) c.1064T>A (p.Ile355Asn) n.1590T>A c.1414T>A (p.Ser472Thr) | |
| 4 | g.6301200T>C | CA356174828 | WFS1 | c.1441T>C (p.Ser481Pro) c.1382T>C c.1405T>C (p.Ser469Pro) c.1156T>C (p.Ser386Pro) c.1064T>C (p.Ile355Thr) n.1590T>C c.1414T>C (p.Ser472Pro) | gnomAD v4 |
| 4 | g.6301200T>G | CA356174829 | WFS1 | c.1441T>G (p.Ser481Ala) c.1382T>G c.1405T>G (p.Ser469Ala) c.1156T>G (p.Ser386Ala) c.1064T>G (p.Ile355Ser) n.1590T>G c.1414T>G (p.Ser472Ala) | |
| 4 | g.6301201C>A | CA356174831 | WFS1 | c.1442C>A (p.Ser481Ter) c.1383C>A c.1406C>A (p.Ser469Ter) c.1157C>A (p.Ser386Ter) c.1065C>A (p.Ile355=) n.1591C>A c.1415C>A (p.Ser472Ter) | |
| 4 | g.6301201C= | CA1435772882 | WFS1 | c.1442C= (p.Ser481=) c.1383C= c.1406C= (p.Ser469=) c.1157C= (p.Ser386=) c.1065C= (p.Ile355=) n.1591C= c.1415C= (p.Ser472=) | |
| 4 | g.6301201C>G | CA356174832 | WFS1 | c.1442C>G (p.Ser481Trp) c.1383C>G c.1406C>G (p.Ser469Trp) c.1157C>G (p.Ser386Trp) c.1065C>G (p.Ile355Met) n.1591C>G c.1415C>G (p.Ser472Trp) | COSMIC |
| 4 | g.6301201C>T | CA2839336 | WFS1 | c.1442C>T (p.Ser481Leu) c.1383C>T c.1406C>T (p.Ser469Leu) c.1157C>T (p.Ser386Leu) c.1065C>T (p.Ile355=) n.1591C>T c.1415C>T (p.Ser472Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301202G>A | CA91796264 | WFS1 | c.1443G>A (p.Ser481=) c.1384G>A c.1407G>A (p.Ser469=) c.1158G>A (p.Ser386=) c.1066G>A (p.Ala356Thr) n.1592G>A c.1416G>A (p.Ser472=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6301202G>C | CA438368847 | WFS1 | c.1443G>C (p.Ser481=) c.1384G>C c.1407G>C (p.Ser469=) c.1158G>C (p.Ser386=) c.1066G>C (p.Ala356Pro) n.1592G>C c.1416G>C (p.Ser472=) | gnomAD v4 |
| 4 | g.6301202G= | CA1435772884 | WFS1 | c.1443G= (p.Ser481=) c.1384G= c.1407G= (p.Ser469=) c.1158G= (p.Ser386=) c.1066G= (p.Ala356=) n.1592G= c.1416G= (p.Ser472=) | |
| 4 | g.6301202G>T | CA91796265 | WFS1 | c.1443G>T (p.Ser481=) c.1384G>T c.1407G>T (p.Ser469=) c.1158G>T (p.Ser386=) c.1066G>T (p.Ala356Ser) n.1592G>T c.1416G>T (p.Ser472=) | dbSNP gnomAD v4 |
| 4 | g.6301203C>A | CA356174833 | WFS1 | c.1444C>A (p.Leu482Met) c.1385C>A c.1408C>A (p.Leu470Met) c.1159C>A (p.Leu387Met) c.1067C>A (p.Ala356Asp) n.1593C>A c.1417C>A (p.Leu473Met) | |
| 4 | g.6301203C= | CA1435772888 | WFS1 | c.1444C= (p.Leu482=) c.1385C= c.1408C= (p.Leu470=) c.1159C= (p.Leu387=) c.1067C= (p.Ala356=) n.1593C= c.1417C= (p.Leu473=) | |
| 4 | g.6301203C>G | CA2839337 | WFS1 | c.1444C>G (p.Leu482Val) c.1385C>G c.1408C>G (p.Leu470Val) c.1159C>G (p.Leu387Val) c.1067C>G (p.Ala356Gly) n.1593C>G c.1417C>G (p.Leu473Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301203C>T | CA2839338 | WFS1 | c.1444C>T (p.Leu482=) c.1385C>T c.1408C>T (p.Leu470=) c.1159C>T (p.Leu387=) c.1067C>T (p.Ala356Val) n.1593C>T c.1417C>T (p.Leu473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301204T>A | CA356174835 | WFS1 | c.1445T>A (p.Leu482Gln) c.1386T>A c.1409T>A (p.Leu470Gln) c.1160T>A (p.Leu387Gln) c.1068T>A (p.Ala356=) n.1594T>A c.1418T>A (p.Leu473Gln) | |
| 4 | g.6301204T>C | CA356174836 | WFS1 | c.1445T>C (p.Leu482Pro) c.1386T>C c.1409T>C (p.Leu470Pro) c.1160T>C (p.Leu387Pro) c.1068T>C (p.Ala356=) n.1594T>C c.1418T>C (p.Leu473Pro) | gnomAD v4 |
| 4 | g.6301204T>G | CA356174837 | WFS1 | c.1445T>G (p.Leu482Arg) c.1386T>G c.1409T>G (p.Leu470Arg) c.1160T>G (p.Leu387Arg) c.1068T>G (p.Ala356=) n.1594T>G c.1418T>G (p.Leu473Arg) | gnomAD v4 |
| 4 | g.6301205G>A | CA438368853 | WFS1 | c.1446G>A (p.Leu482=) c.1387G>A c.1410G>A (p.Leu470=) c.1161G>A (p.Leu387=) c.1069G>A (p.Ala357Thr) n.1595G>A c.1419G>A (p.Leu473=) | ClinVar dbSNP |
| 4 | g.6301205G>C | CA2839339 | WFS1 | c.1446G>C (p.Leu482=) c.1387G>C c.1410G>C (p.Leu470=) c.1161G>C (p.Leu387=) c.1069G>C (p.Ala357Pro) n.1595G>C c.1419G>C (p.Leu473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301205G= | CA1435772891 | WFS1 | c.1446G= (p.Leu482=) c.1387G= c.1410G= (p.Leu470=) c.1161G= (p.Leu387=) c.1069G= (p.Ala357=) n.1595G= c.1419G= (p.Leu473=) | |
| 4 | g.6301205G>T | CA438368854 | WFS1 | c.1446G>T (p.Leu482=) c.1387G>T c.1410G>T (p.Leu470=) c.1161G>T (p.Leu387=) c.1069G>T (p.Ala357Ser) n.1595G>T c.1419G>T (p.Leu473=) | gnomAD v4 |
| 4 | g.6301206C>A | CA356174838 | WFS1 | c.1447C>A (p.Leu483Met) c.1388C>A c.1411C>A (p.Leu471Met) c.1162C>A (p.Leu388Met) c.1070C>A (p.Ala357Asp) n.1596C>A c.1420C>A (p.Leu474Met) | |
| 4 | g.6301206C= | CA1435772892 | WFS1 | c.1447C= (p.Leu483=) c.1388C= c.1411C= (p.Leu471=) c.1162C= (p.Leu388=) c.1070C= (p.Ala357=) n.1596C= c.1420C= (p.Leu474=) | |
| 4 | g.6301206C>G | CA356174839 | WFS1 | c.1447C>G (p.Leu483Val) c.1388C>G c.1411C>G (p.Leu471Val) c.1162C>G (p.Leu388Val) c.1070C>G (p.Ala357Gly) n.1596C>G c.1420C>G (p.Leu474Val) | dbSNP |
| 4 | g.6301206C>T | CA2839340 | WFS1 | c.1447C>T (p.Leu483=) c.1388C>T c.1411C>T (p.Leu471=) c.1162C>T (p.Leu388=) c.1070C>T (p.Ala357Val) n.1596C>T c.1420C>T (p.Leu474=) | ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.6301207T>A | CA356174840 | WFS1 | c.1448T>A (p.Leu483Gln) c.1389T>A c.1412T>A (p.Leu471Gln) c.1163T>A (p.Leu388Gln) c.1071T>A (p.Ala357=) n.1597T>A c.1421T>A (p.Leu474Gln) | |
| 4 | g.6301207T>C | CA356174841 | WFS1 | c.1448T>C (p.Leu483Pro) c.1389T>C c.1412T>C (p.Leu471Pro) c.1163T>C (p.Leu388Pro) c.1071T>C (p.Ala357=) n.1597T>C c.1421T>C (p.Leu474Pro) | |
| 4 | g.6301207T>G | CA356174842 | WFS1 | c.1448T>G (p.Leu483Arg) c.1389T>G c.1412T>G (p.Leu471Arg) c.1163T>G (p.Leu388Arg) c.1071T>G (p.Ala357=) n.1597T>G c.1421T>G (p.Leu474Arg) | dbSNP |
| 4 | g.6301207T= | CA1435772894 | WFS1 | c.1448T= (p.Leu483=) c.1389T= c.1412T= (p.Leu471=) c.1163T= (p.Leu388=) c.1071T= (p.Ala357=) n.1597T= c.1421T= (p.Leu474=) | |
| 4 | g.6301208G>A | CA438368861 | WFS1 | c.1449G>A (p.Leu483=) c.1390G>A c.1413G>A (p.Leu471=) c.1164G>A (p.Leu388=) c.1072G>A (p.Ala358Thr) n.1598G>A c.1422G>A (p.Leu474=) | gnomAD v4 |
| 4 | g.6301208G>C | CA438368863 | WFS1 | c.1449G>C (p.Leu483=) c.1390G>C c.1413G>C (p.Leu471=) c.1164G>C (p.Leu388=) c.1072G>C (p.Ala358Pro) n.1598G>C c.1422G>C (p.Leu474=) | |
| 4 | g.6301208G>T | CA438368866 | WFS1 | c.1449G>T (p.Leu483=) c.1390G>T c.1413G>T (p.Leu471=) c.1164G>T (p.Leu388=) c.1072G>T (p.Ala358Ser) n.1598G>T c.1422G>T (p.Leu474=) | |
| 4 | g.6301209C>A | CA356174843 | WFS1 | c.1450C>A (p.Pro484Thr) c.1391C>A c.1414C>A (p.Pro472Thr) c.1165C>A (p.Pro389Thr) c.1073C>A (p.Ala358Asp) n.1599C>A c.1423C>A (p.Pro475Thr) | |
| 4 | g.6301209C= | CA1435772897 | WFS1 | c.1450C= (p.Pro484=) c.1391C= c.1414C= (p.Pro472=) c.1165C= (p.Pro389=) c.1073C= (p.Ala358=) n.1599C= c.1423C= (p.Pro475=) | |
| 4 | g.6301209C>G | CA356174844 | WFS1 | c.1450C>G (p.Pro484Ala) c.1391C>G c.1414C>G (p.Pro472Ala) c.1165C>G (p.Pro389Ala) c.1073C>G (p.Ala358Gly) n.1599C>G c.1423C>G (p.Pro475Ala) | |
| 4 | g.6301209C>T | CA356174845 | WFS1 | c.1450C>T (p.Pro484Ser) c.1391C>T c.1414C>T (p.Pro472Ser) c.1165C>T (p.Pro389Ser) c.1073C>T (p.Ala358Val) n.1599C>T c.1423C>T (p.Pro475Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301210C>A | CA356174846 | WFS1 | c.1451C>A (p.Pro484His) c.1392C>A c.1415C>A (p.Pro472His) c.1166C>A (p.Pro389His) c.1074C>A (p.Ala358=) n.1600C>A c.1424C>A (p.Pro475His) | |
| 4 | g.6301210C>G | CA356174847 | WFS1 | c.1451C>G (p.Pro484Arg) c.1392C>G c.1415C>G (p.Pro472Arg) c.1166C>G (p.Pro389Arg) c.1074C>G (p.Ala358=) n.1600C>G c.1424C>G (p.Pro475Arg) | gnomAD v4 |
| 4 | g.6301210C>T | CA356174848 | WFS1 | c.1451C>T (p.Pro484Leu) c.1392C>T c.1415C>T (p.Pro472Leu) c.1166C>T (p.Pro389Leu) c.1074C>T (p.Ala358=) n.1600C>T c.1424C>T (p.Pro475Leu) | ClinVar gnomAD v4 |
| 4 | g.6301211C>A | CA2839341 | WFS1 | c.1452C>A (p.Pro484=) c.1393C>A c.1416C>A (p.Pro472=) c.1167C>A (p.Pro389=) c.1075C>A (p.Leu359Ile) n.1601C>A c.1425C>A (p.Pro475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301211C= | CA1435772902 | WFS1 | c.1452C= (p.Pro484=) c.1393C= c.1416C= (p.Pro472=) c.1167C= (p.Pro389=) c.1075C= (p.Leu359=) n.1601C= c.1425C= (p.Pro475=) | |
| 4 | g.6301211C>G | CA438368875 | WFS1 | c.1452C>G (p.Pro484=) c.1393C>G c.1416C>G (p.Pro472=) c.1167C>G (p.Pro389=) c.1075C>G (p.Leu359Val) n.1601C>G c.1425C>G (p.Pro475=) | gnomAD v4 |
| 4 | g.6301211C>T | CA438368874 | WFS1 | c.1452C>T (p.Pro484=) c.1393C>T c.1416C>T (p.Pro472=) c.1167C>T (p.Pro389=) c.1075C>T (p.Leu359Phe) n.1601C>T c.1425C>T (p.Pro475=) | gnomAD v4 |
| 4 | g.6301212T>A | CA356174852 | WFS1 | c.1453T>A (p.Ser485Thr) c.1394T>A c.1417T>A (p.Ser473Thr) c.1168T>A (p.Ser390Thr) c.1076T>A (p.Leu359His) n.1602T>A c.1426T>A (p.Ser476Thr) | |
| 4 | g.6301212T>C | CA356174850 | WFS1 | c.1453T>C (p.Ser485Pro) c.1394T>C c.1417T>C (p.Ser473Pro) c.1168T>C (p.Ser390Pro) c.1076T>C (p.Leu359Pro) n.1602T>C c.1426T>C (p.Ser476Pro) | gnomAD v4 |
| 4 | g.6301212T>G | CA356174849 | WFS1 | c.1453T>G (p.Ser485Ala) c.1394T>G c.1417T>G (p.Ser473Ala) c.1168T>G (p.Ser390Ala) c.1076T>G (p.Leu359Arg) n.1602T>G c.1426T>G (p.Ser476Ala) | |
| 4 | g.6301213C>A | CA356174853 | WFS1 | c.1454C>A (p.Ser485Tyr) c.1395C>A c.1418C>A (p.Ser473Tyr) c.1169C>A (p.Ser390Tyr) c.1077C>A (p.Leu359=) n.1603C>A c.1427C>A (p.Ser476Tyr) | |
| 4 | g.6301213C>G | CA356174855 | WFS1 | c.1454C>G (p.Ser485Cys) c.1395C>G c.1418C>G (p.Ser473Cys) c.1169C>G (p.Ser390Cys) c.1077C>G (p.Leu359=) n.1603C>G c.1427C>G (p.Ser476Cys) | |
| 4 | g.6301213C>T | CA356174857 | WFS1 | c.1454C>T (p.Ser485Phe) c.1395C>T c.1418C>T (p.Ser473Phe) c.1169C>T (p.Ser390Phe) c.1077C>T (p.Leu359=) n.1603C>T c.1427C>T (p.Ser476Phe) | |
| 4 | g.6301214C>A | CA438368887 | WFS1 | c.1455C>A (p.Ser485=) c.1396C>A c.1419C>A (p.Ser473=) c.1170C>A (p.Ser390=) c.1078C>A (p.His360Asn) n.1604C>A c.1428C>A (p.Ser476=) | |
| 4 | g.6301214C= | CA1435772906 | WFS1 | c.1455C= (p.Ser485=) c.1396C= c.1419C= (p.Ser473=) c.1170C= (p.Ser390=) c.1078C= (p.His360=) n.1604C= c.1428C= (p.Ser476=) | |
| 4 | g.6301214C>G | CA438368888 | WFS1 | c.1455C>G (p.Ser485=) c.1396C>G c.1419C>G (p.Ser473=) c.1170C>G (p.Ser390=) c.1078C>G (p.His360Asp) n.1604C>G c.1428C>G (p.Ser476=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301214C>T | CA2839342 | WFS1 | c.1455C>T (p.Ser485=) c.1396C>T c.1419C>T (p.Ser473=) c.1170C>T (p.Ser390=) c.1078C>T (p.His360Tyr) n.1604C>T c.1428C>T (p.Ser476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301214_6301222del | CA2573102953 | WFS1 | c.1455_1463del (p.Met486_Leu488del) c.1396_1404del c.1419_1427del (p.Met474_Leu476del) c.1170_1178del (p.Met391_Leu393del) c.1078_1086del (p.His360_Leu362del) n.1604_1612del c.1428_1436del (p.Met477_Leu479del) | |
| 4 | g.6301215A= | CA1435772910 | WFS1 | c.1456A= (p.Met486=) c.1397A= c.1420A= (p.Met474=) c.1171A= (p.Met391=) c.1079A= (p.His360=) n.1605A= c.1429A= (p.Met477=) | |
| 4 | g.6301215A>C | CA2839343 | WFS1 | c.1456A>C (p.Met486Leu) c.1397A>C c.1420A>C (p.Met474Leu) c.1171A>C (p.Met391Leu) c.1079A>C (p.His360Pro) n.1605A>C c.1429A>C (p.Met477Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301215A>G | CA2839344 | WFS1 | c.1456A>G (p.Met486Val) c.1397A>G c.1420A>G (p.Met474Val) c.1171A>G (p.Met391Val) c.1079A>G (p.His360Arg) n.1605A>G c.1429A>G (p.Met477Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301215A>T | CA356174862 | WFS1 | c.1456A>T (p.Met486Leu) c.1397A>T c.1420A>T (p.Met474Leu) c.1171A>T (p.Met391Leu) c.1079A>T (p.His360Leu) n.1605A>T c.1429A>T (p.Met477Leu) | |
| 4 | g.6301216T>A | CA356174864 | WFS1 | c.1457T>A (p.Met486Lys) c.1398T>A c.1421T>A (p.Met474Lys) c.1172T>A (p.Met391Lys) c.1080T>A (p.His360Gln) n.1606T>A c.1430T>A (p.Met477Lys) | |
| 4 | g.6301216T>C | CA356174866 | WFS1 | c.1457T>C (p.Met486Thr) c.1398T>C c.1421T>C (p.Met474Thr) c.1172T>C (p.Met391Thr) c.1080T>C (p.His360=) n.1606T>C c.1430T>C (p.Met477Thr) | gnomAD v4 |
| 4 | g.6301216T>G | CA356174868 | WFS1 | c.1457T>G (p.Met486Arg) c.1398T>G c.1421T>G (p.Met474Arg) c.1172T>G (p.Met391Arg) c.1080T>G (p.His360Gln) n.1606T>G c.1430T>G (p.Met477Arg) | ClinVar gnomAD v4 |
| 4 | g.6301217G>A | CA356174871 | WFS1 | c.1458G>A (p.Met486Ile) c.1399G>A c.1422G>A (p.Met474Ile) c.1173G>A (p.Met391Ile) c.1081G>A (p.Ala361Thr) n.1607G>A c.1431G>A (p.Met477Ile) | |
| 4 | g.6301217G>C | CA356174873 | WFS1 | c.1458G>C (p.Met486Ile) c.1399G>C c.1422G>C (p.Met474Ile) c.1173G>C (p.Met391Ile) c.1081G>C (p.Ala361Pro) n.1607G>C c.1431G>C (p.Met477Ile) | |
| 4 | g.6301217G>T | CA356174875 | WFS1 | c.1458G>T (p.Met486Ile) c.1399G>T c.1422G>T (p.Met474Ile) c.1173G>T (p.Met391Ile) c.1081G>T (p.Ala361Ser) n.1607G>T c.1431G>T (p.Met477Ile) | |
| 4 | g.6301218C>A | CA356174881 | WFS1 | c.1459C>A (p.Pro487Thr) c.1400C>A c.1423C>A (p.Pro475Thr) c.1174C>A (p.Pro392Thr) c.1082C>A (p.Ala361Asp) n.1608C>A c.1432C>A (p.Pro478Thr) | |
| 4 | g.6301218C= | CA1435772912 | WFS1 | c.1459C= (p.Pro487=) c.1400C= c.1423C= (p.Pro475=) c.1174C= (p.Pro392=) c.1082C= (p.Ala361=) n.1608C= c.1432C= (p.Pro478=) | |
| 4 | g.6301218C>G | CA356174877 | WFS1 | c.1459C>G (p.Pro487Ala) c.1400C>G c.1423C>G (p.Pro475Ala) c.1174C>G (p.Pro392Ala) c.1082C>G (p.Ala361Gly) n.1608C>G c.1432C>G (p.Pro478Ala) | dbSNP gnomAD v4 |
| 4 | g.6301218C>T | CA356174879 | WFS1 | c.1459C>T (p.Pro487Ser) c.1400C>T c.1423C>T (p.Pro475Ser) c.1174C>T (p.Pro392Ser) c.1082C>T (p.Ala361Val) n.1608C>T c.1432C>T (p.Pro478Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301219C>A | CA356174883 | WFS1 | c.1460C>A (p.Pro487His) c.1401C>A c.1424C>A (p.Pro475His) c.1175C>A (p.Pro392His) c.1083C>A (p.Ala361=) n.1609C>A c.1433C>A (p.Pro478His) | |
| 4 | g.6301219C= | CA1435772914 | WFS1 | c.1460C= (p.Pro487=) c.1401C= c.1424C= (p.Pro475=) c.1175C= (p.Pro392=) c.1083C= (p.Ala361=) n.1609C= c.1433C= (p.Pro478=) | |
| 4 | g.6301219C>G | CA356174885 | WFS1 | c.1460C>G (p.Pro487Arg) c.1401C>G c.1424C>G (p.Pro475Arg) c.1175C>G (p.Pro392Arg) c.1083C>G (p.Ala361=) n.1609C>G c.1433C>G (p.Pro478Arg) | |
| 4 | g.6301219C>T | CA2839345 | WFS1 | c.1460C>T (p.Pro487Leu) c.1401C>T c.1424C>T (p.Pro475Leu) c.1175C>T (p.Pro392Leu) c.1083C>T (p.Ala361=) n.1609C>T c.1433C>T (p.Pro478Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301220C>A | CA438368907 | WFS1 | c.1461C>A (p.Pro487=) c.1402C>A c.1425C>A (p.Pro475=) c.1176C>A (p.Pro392=) c.1084C>A (p.Leu362Ile) n.1610C>A c.1434C>A (p.Pro478=) | |
| 4 | g.6301220C= | CA1435772919 | WFS1 | c.1461C= (p.Pro487=) c.1402C= c.1425C= (p.Pro475=) c.1176C= (p.Pro392=) c.1084C= (p.Leu362=) n.1610C= c.1434C= (p.Pro478=) | |
| 4 | g.6301220C>G | CA438368908 | WFS1 | c.1461C>G (p.Pro487=) c.1402C>G c.1425C>G (p.Pro475=) c.1176C>G (p.Pro392=) c.1084C>G (p.Leu362Val) n.1610C>G c.1434C>G (p.Pro478=) | |
| 4 | g.6301220C>T | CA2839346 | WFS1 | c.1461C>T (p.Pro487=) c.1402C>T c.1425C>T (p.Pro475=) c.1176C>T (p.Pro392=) c.1084C>T (p.Leu362Phe) n.1610C>T c.1434C>T (p.Pro478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301221T>A | CA356174889 | WFS1 | c.1462T>A (p.Leu488Met) c.1403T>A c.1426T>A (p.Leu476Met) c.1177T>A (p.Leu393Met) c.1085T>A (p.Leu362His) n.1611T>A c.1435T>A (p.Leu479Met) | |
| 4 | g.6301221T>C | CA438368912 | WFS1 | c.1462T>C (p.Leu488=) c.1403T>C c.1426T>C (p.Leu476=) c.1177T>C (p.Leu393=) c.1085T>C (p.Leu362Pro) n.1611T>C c.1435T>C (p.Leu479=) | |
| 4 | g.6301221T>G | CA356174892 | WFS1 | c.1462T>G (p.Leu488Val) c.1403T>G c.1426T>G (p.Leu476Val) c.1177T>G (p.Leu393Val) c.1085T>G (p.Leu362Arg) n.1611T>G c.1435T>G (p.Leu479Val) | |
| 4 | g.6301222T>A | CA356174895 | WFS1 | c.1463T>A (p.Leu488Ter) c.1404T>A c.1427T>A (p.Leu476Ter) c.1178T>A (p.Leu393Ter) c.1086T>A (p.Leu362=) n.1612T>A c.1436T>A (p.Leu479Ter) | |
| 4 | g.6301222T>C | CA356174897 | WFS1 | c.1463T>C (p.Leu488Ser) c.1404T>C c.1427T>C (p.Leu476Ser) c.1178T>C (p.Leu393Ser) c.1086T>C (p.Leu362=) n.1612T>C c.1436T>C (p.Leu479Ser) | |
| 4 | g.6301222T>G | CA356174898 | WFS1 | c.1463T>G (p.Leu488Trp) c.1404T>G c.1427T>G (p.Leu476Trp) c.1178T>G (p.Leu393Trp) c.1086T>G (p.Leu362=) n.1612T>G c.1436T>G (p.Leu479Trp) | |
| 4 | g.6301223G>A | CA438368920 | WFS1 | c.1464G>A (p.Leu488=) c.1405G>A c.1428G>A (p.Leu476=) c.1179G>A (p.Leu393=) c.1087G>A (p.Glu363Lys) n.1613G>A c.1437G>A (p.Leu479=) | gnomAD v4 |
| 4 | g.6301223G>C | CA356174900 | WFS1 | c.1464G>C (p.Leu488Phe) c.1405G>C c.1428G>C (p.Leu476Phe) c.1179G>C (p.Leu393Phe) c.1087G>C (p.Glu363Gln) n.1613G>C c.1437G>C (p.Leu479Phe) | dbSNP gnomAD v2 |
| 4 | g.6301223G= | CA1435772922 | WFS1 | c.1464G= (p.Leu488=) c.1405G= c.1428G= (p.Leu476=) c.1179G= (p.Leu393=) c.1087G= (p.Glu363=) n.1613G= c.1437G= (p.Leu479=) | |
| 4 | g.6301223G>T | CA356174902 | WFS1 | c.1464G>T (p.Leu488Phe) c.1405G>T c.1428G>T (p.Leu476Phe) c.1179G>T (p.Leu393Phe) c.1087G>T (p.Glu363Ter) n.1613G>T c.1437G>T (p.Leu479Phe) | |
| 4 | g.6301224A>C | CA356174908 | WFS1 | c.1465A>C (p.Asn489His) c.1406A>C c.1429A>C (p.Asn477His) c.1180A>C (p.Asn394His) c.1088A>C (p.Glu363Ala) n.1614A>C c.1438A>C (p.Asn480His) | ClinVar dbSNP |
| 4 | g.6301224A>G | CA356174907 | WFS1 | c.1465A>G (p.Asn489Asp) c.1406A>G c.1429A>G (p.Asn477Asp) c.1180A>G (p.Asn394Asp) c.1088A>G (p.Glu363Gly) n.1614A>G c.1438A>G (p.Asn480Asp) | |
| 4 | g.6301224A>T | CA356174904 | WFS1 | c.1465A>T (p.Asn489Tyr) c.1406A>T c.1429A>T (p.Asn477Tyr) c.1180A>T (p.Asn394Tyr) c.1088A>T (p.Glu363Val) n.1614A>T c.1438A>T (p.Asn480Tyr) | |
| 4 | g.6301225A>C | CA356174911 | WFS1 | c.1466A>C (p.Asn489Thr) c.1407A>C c.1430A>C (p.Asn477Thr) c.1181A>C (p.Asn394Thr) c.1089A>C (p.Glu363Asp) n.1615A>C c.1439A>C (p.Asn480Thr) | |
| 4 | g.6301225A>G | CA356174915 | WFS1 | c.1466A>G (p.Asn489Ser) c.1407A>G c.1430A>G (p.Asn477Ser) c.1181A>G (p.Asn394Ser) c.1089A>G (p.Glu363=) n.1615A>G c.1439A>G (p.Asn480Ser) | |
| 4 | g.6301225A>T | CA356174913 | WFS1 | c.1466A>T (p.Asn489Ile) c.1407A>T c.1430A>T (p.Asn477Ile) c.1181A>T (p.Asn394Ile) c.1089A>T (p.Glu363Asp) n.1615A>T c.1439A>T (p.Asn480Ile) | |
| 4 | g.6301225_6301245delinsATTGGCCCTACCTGAAGGTCC | CA1435772925 | WFS1 | c.1466_1486delinsATTGGCCCTACCTGAAGGTCC (p.Asn489=) c.1407_1427delinsATTGGCCCTACCTGAAGGTCC c.1430_1450delinsATTGGCCCTACCTGAAGGTCC (p.Asn477=) c.1181_1201delinsATTGGCCCTACCTGAAGGTCC (p.Asn394=) c.1089_1109delinsATTGGCCCTACCTGAAGGTCC (p.Glu363=) n.1615_1635delinsATTGGCCCTACCTGAAGGTCC c.1439_1459delinsATTGGCCCTACCTGAAGGTCC (p.Asn480=) | |
| 4 | g.6301226T>A | CA356174917 | WFS1 | c.1467T>A (p.Asn489Lys) c.1408T>A c.1431T>A (p.Asn477Lys) c.1182T>A (p.Asn394Lys) c.1090T>A (p.Leu364Met) n.1616T>A c.1440T>A (p.Asn480Lys) | |
| 4 | g.6301226T>C | CA2839347 | WFS1 | c.1467T>C (p.Asn489=) c.1408T>C c.1431T>C (p.Asn477=) c.1182T>C (p.Asn394=) c.1090T>C (p.Leu364=) n.1616T>C c.1440T>C (p.Asn480=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301226T>G | CA356174920 | WFS1 | c.1467T>G (p.Asn489Lys) c.1408T>G c.1431T>G (p.Asn477Lys) c.1182T>G (p.Asn394Lys) c.1090T>G (p.Leu364Val) n.1616T>G c.1440T>G (p.Asn480Lys) | |
| 4 | g.6301226T= | CA1435772926 | WFS1 | c.1467T= (p.Asn489=) c.1408T= c.1431T= (p.Asn477=) c.1182T= (p.Asn394=) c.1090T= (p.Leu364=) n.1616T= c.1440T= (p.Asn480=) | |
| 4 | g.6301232_6301251del | CA1058891556 | WFS1 | c.1473_1492del (p.Tyr492AspfsTer?) c.1414_1433del c.1437_1456del (p.Tyr480AspfsTer?) c.1188_1207del (p.Tyr397AspfsTer?) c.1096_1115del (p.Leu366ArgfsTer?) n.1622_1641del c.1446_1465del (p.Tyr483AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301227T>A | CA356174922 | WFS1 | c.1468T>A (p.Trp490Arg) c.1409T>A c.1432T>A (p.Trp478Arg) c.1183T>A (p.Trp395Arg) c.1091T>A (p.Leu364Ter) n.1617T>A c.1441T>A (p.Trp481Arg) | |
| 4 | g.6301227T>C | CA356174924 | WFS1 | c.1468T>C (p.Trp490Arg) c.1409T>C c.1432T>C (p.Trp478Arg) c.1183T>C (p.Trp395Arg) c.1091T>C (p.Leu364Ser) n.1617T>C c.1441T>C (p.Trp481Arg) | |
| 4 | g.6301227T>G | CA91796266 | WFS1 | c.1468T>G (p.Trp490Gly) c.1409T>G c.1432T>G (p.Trp478Gly) c.1183T>G (p.Trp395Gly) c.1091T>G (p.Leu364Trp) n.1617T>G c.1441T>G (p.Trp481Gly) | dbSNP gnomAD v4 |
| 4 | g.6301227T= | CA1435772929 | WFS1 | c.1468T= (p.Trp490=) c.1409T= c.1432T= (p.Trp478=) c.1183T= (p.Trp395=) c.1091T= (p.Leu364=) n.1617T= c.1441T= (p.Trp481=) | |
| 4 | g.6301228G>A | CA2839348 | WFS1 | c.1469G>A (p.Trp490Ter) c.1410G>A c.1433G>A (p.Trp478Ter) c.1184G>A (p.Trp395Ter) c.1092G>A (p.Leu364=) n.1618G>A c.1442G>A (p.Trp481Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301228G>C | CA356174928 | WFS1 | c.1469G>C (p.Trp490Ser) c.1410G>C c.1433G>C (p.Trp478Ser) c.1184G>C (p.Trp395Ser) c.1092G>C (p.Leu364Phe) n.1618G>C c.1442G>C (p.Trp481Ser) | |
| 4 | g.6301228G= | CA1435772935 | WFS1 | c.1469G= (p.Trp490=) c.1410G= c.1433G= (p.Trp478=) c.1184G= (p.Trp395=) c.1092G= (p.Leu364=) n.1618G= c.1442G= (p.Trp481=) | |
| 4 | g.6301228G>T | CA91796267 | WFS1 | c.1469G>T (p.Trp490Leu) c.1410G>T c.1433G>T (p.Trp478Leu) c.1184G>T (p.Trp395Leu) c.1092G>T (p.Leu364Phe) n.1618G>T c.1442G>T (p.Trp481Leu) | dbSNP |
| 4 | g.6301229del | CA2586973623 | WFS1 | c.1470del (p.Trp490CysfsTer4) c.1411del c.1434del (p.Trp478CysfsTer4) c.1185del (p.Trp395CysfsTer4) c.1093del (p.Ala365ProfsTer?) n.1619del c.1443del (p.Trp481CysfsTer4) | |
| 4 | g.6301228_6301263dup | CA2669843434 | WFS1 | c.1469_1504dup (p.Ile501_Thr502insArgProTyrLeuLysValLeuGlyGlnThrPheIle) c.1410_1445dup c.1433_1468dup (p.Ile489_Thr490insArgProTyrLeuLysValLeuGlyGlnThrPheIle) c.1184_1219dup (p.Ile406_Thr407insArgProTyrLeuLysValLeuGlyGlnThrPheIle) c.1092_1127dup (p.His375_His376insGlnAlaLeuProGluGlyProTrpProAspLeuHis) n.1618_1653dup c.1442_1477dup (p.Ile492_Thr493insArgProTyrLeuLysValLeuGlyGlnThrPheIle) | gnomAD v4 |
| 4 | g.6301229G>A | CA356174932 | WFS1 | c.1470G>A (p.Trp490Ter) c.1411G>A c.1434G>A (p.Trp478Ter) c.1185G>A (p.Trp395Ter) c.1093G>A (p.Ala365Thr) n.1619G>A c.1443G>A (p.Trp481Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301229G>C | CA356174934 | WFS1 | c.1470G>C (p.Trp490Cys) c.1411G>C c.1434G>C (p.Trp478Cys) c.1185G>C (p.Trp395Cys) c.1093G>C (p.Ala365Pro) n.1619G>C c.1443G>C (p.Trp481Cys) | |
| 4 | g.6301229G= | CA1435772937 | WFS1 | c.1470G= (p.Trp490=) c.1411G= c.1434G= (p.Trp478=) c.1185G= (p.Trp395=) c.1093G= (p.Ala365=) n.1619G= c.1443G= (p.Trp481=) | |
| 4 | g.6301229G>T | CA356174935 | WFS1 | c.1470G>T (p.Trp490Cys) c.1411G>T c.1434G>T (p.Trp478Cys) c.1185G>T (p.Trp395Cys) c.1093G>T (p.Ala365Ser) n.1619G>T c.1443G>T (p.Trp481Cys) | gnomAD v4 |
| 4 | g.6301230C>A | CA356174942 | WFS1 | c.1471C>A (p.Pro491Thr) c.1412C>A c.1435C>A (p.Pro479Thr) c.1186C>A (p.Pro396Thr) c.1094C>A (p.Ala365Asp) n.1620C>A c.1444C>A (p.Pro482Thr) | |
| 4 | g.6301230C= | CA1435772939 | WFS1 | c.1471C= (p.Pro491=) c.1412C= c.1435C= (p.Pro479=) c.1186C= (p.Pro396=) c.1094C= (p.Ala365=) n.1620C= c.1444C= (p.Pro482=) | |
| 4 | g.6301230C>G | CA356174938 | WFS1 | c.1471C>G (p.Pro491Ala) c.1412C>G c.1435C>G (p.Pro479Ala) c.1186C>G (p.Pro396Ala) c.1094C>G (p.Ala365Gly) n.1620C>G c.1444C>G (p.Pro482Ala) | ClinVar |
| 4 | g.6301230C>T | CA356174940 | WFS1 | c.1471C>T (p.Pro491Ser) c.1412C>T c.1435C>T (p.Pro479Ser) c.1186C>T (p.Pro396Ser) c.1094C>T (p.Ala365Val) n.1620C>T c.1444C>T (p.Pro482Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301231C>A | CA356174945 | WFS1 | c.1472C>A (p.Pro491His) c.1413C>A c.1436C>A (p.Pro479His) c.1187C>A (p.Pro396His) c.1095C>A (p.Ala365=) n.1621C>A c.1445C>A (p.Pro482His) | |
| 4 | g.6301231C>G | CA356174947 | WFS1 | c.1472C>G (p.Pro491Arg) c.1413C>G c.1436C>G (p.Pro479Arg) c.1187C>G (p.Pro396Arg) c.1095C>G (p.Ala365=) n.1621C>G c.1445C>G (p.Pro482Arg) | dbSNP |
| 4 | g.6301231C>T | CA356174949 | WFS1 | c.1472C>T (p.Pro491Leu) c.1413C>T c.1436C>T (p.Pro479Leu) c.1187C>T (p.Pro396Leu) c.1095C>T (p.Ala365=) n.1621C>T c.1445C>T (p.Pro482Leu) | gnomAD v4 |
| 4 | g.6301232C>A | CA438368932 | WFS1 | c.1473C>A (p.Pro491=) c.1414C>A c.1437C>A (p.Pro479=) c.1188C>A (p.Pro396=) c.1096C>A (p.Leu366Ile) n.1622C>A c.1446C>A (p.Pro482=) | |
| 4 | g.6301232C= | CA1435772944 | WFS1 | c.1473C= (p.Pro491=) c.1414C= c.1437C= (p.Pro479=) c.1188C= (p.Pro396=) c.1096C= (p.Leu366=) n.1622C= c.1446C= (p.Pro482=) | |
| 4 | g.6301232C>G | CA2839349 | WFS1 | c.1473C>G (p.Pro491=) c.1414C>G c.1437C>G (p.Pro479=) c.1188C>G (p.Pro396=) c.1096C>G (p.Leu366Val) n.1622C>G c.1446C>G (p.Pro482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301232C>T | CA91796268 | WFS1 | c.1473C>T (p.Pro491=) c.1414C>T c.1437C>T (p.Pro479=) c.1188C>T (p.Pro396=) c.1096C>T (p.Leu366=) n.1622C>T c.1446C>T (p.Pro482=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301233T>A | CA356174953 | WFS1 | c.1474T>A (p.Tyr492Asn) c.1415T>A c.1438T>A (p.Tyr480Asn) c.1189T>A (p.Tyr397Asn) c.1097T>A (p.Leu366Gln) n.1623T>A c.1447T>A (p.Tyr483Asn) | |
| 4 | g.6301233T>C | CA2839350 | WFS1 | c.1474T>C (p.Tyr492His) c.1415T>C c.1438T>C (p.Tyr480His) c.1189T>C (p.Tyr397His) c.1097T>C (p.Leu366Pro) n.1623T>C c.1447T>C (p.Tyr483His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301233T>G | CA356174956 | WFS1 | c.1474T>G (p.Tyr492Asp) c.1415T>G c.1438T>G (p.Tyr480Asp) c.1189T>G (p.Tyr397Asp) c.1097T>G (p.Leu366Arg) n.1623T>G c.1447T>G (p.Tyr483Asp) | |
| 4 | g.6301233T= | CA1435772946 | WFS1 | c.1474T= (p.Tyr492=) c.1415T= c.1438T= (p.Tyr480=) c.1189T= (p.Tyr397=) c.1097T= (p.Leu366=) n.1623T= c.1447T= (p.Tyr483=) | |
| 4 | g.6301234A= | CA1435772948 | WFS1 | c.1475A= (p.Tyr492=) c.1416A= c.1439A= (p.Tyr480=) c.1190A= (p.Tyr397=) c.1098A= (p.Leu366=) n.1624A= c.1448A= (p.Tyr483=) | |
| 4 | g.6301234A>C | CA356174958 | WFS1 | c.1475A>C (p.Tyr492Ser) c.1416A>C c.1439A>C (p.Tyr480Ser) c.1190A>C (p.Tyr397Ser) c.1098A>C (p.Leu366=) n.1624A>C c.1448A>C (p.Tyr483Ser) | |
| 4 | g.6301234A>G | CA2839351 | WFS1 | c.1475A>G (p.Tyr492Cys) c.1416A>G c.1439A>G (p.Tyr480Cys) c.1190A>G (p.Tyr397Cys) c.1098A>G (p.Leu366=) n.1624A>G c.1448A>G (p.Tyr483Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301234A>T | CA356174960 | WFS1 | c.1475A>T (p.Tyr492Phe) c.1416A>T c.1439A>T (p.Tyr480Phe) c.1190A>T (p.Tyr397Phe) c.1098A>T (p.Leu366=) n.1624A>T c.1448A>T (p.Tyr483Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301235C>A | CA356174966 | WFS1 | c.1476C>A (p.Tyr492Ter) c.1417C>A c.1440C>A (p.Tyr480Ter) c.1191C>A (p.Tyr397Ter) c.1099C>A (p.Pro367Thr) n.1625C>A c.1449C>A (p.Tyr483Ter) | |
| 4 | g.6301235C= | CA1435772951 | WFS1 | c.1476C= (p.Tyr492=) c.1417C= c.1440C= (p.Tyr480=) c.1191C= (p.Tyr397=) c.1099C= (p.Pro367=) n.1625C= c.1449C= (p.Tyr483=) | |
| 4 | g.6301235C>G | CA356174964 | WFS1 | c.1476C>G (p.Tyr492Ter) c.1417C>G c.1440C>G (p.Tyr480Ter) c.1191C>G (p.Tyr397Ter) c.1099C>G (p.Pro367Ala) n.1625C>G c.1449C>G (p.Tyr483Ter) | |
| 4 | g.6301235C>T | CA2839352 | WFS1 | c.1476C>T (p.Tyr492=) c.1417C>T c.1440C>T (p.Tyr480=) c.1191C>T (p.Tyr397=) c.1099C>T (p.Pro367Ser) n.1625C>T c.1449C>T (p.Tyr483=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301236C>A | CA356174969 | WFS1 | c.1477C>A (p.Leu493Met) c.1418C>A c.1441C>A (p.Leu481Met) c.1192C>A (p.Leu398Met) c.1100C>A (p.Pro367His) n.1626C>A c.1450C>A (p.Leu484Met) | |
| 4 | g.6301236C= | CA1435772959 | WFS1 | c.1477C= (p.Leu493=) c.1418C= c.1441C= (p.Leu481=) c.1192C= (p.Leu398=) c.1100C= (p.Pro367=) n.1626C= c.1450C= (p.Leu484=) | |
| 4 | g.6301236C>G | CA356174971 | WFS1 | c.1477C>G (p.Leu493Val) c.1418C>G c.1441C>G (p.Leu481Val) c.1192C>G (p.Leu398Val) c.1100C>G (p.Pro367Arg) n.1626C>G c.1450C>G (p.Leu484Val) | |
| 4 | g.6301236C>T | CA183802 | WFS1 | c.1477C>T (p.Leu493=) c.1418C>T c.1441C>T (p.Leu481=) c.1192C>T (p.Leu398=) c.1100C>T (p.Pro367Leu) n.1626C>T c.1450C>T (p.Leu484=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301236_6301242dup | CA273296 | WFS1 | c.1477_1483dup (p.Val495AlafsTer?) c.1418_1424dup c.1441_1447dup (p.Val483AlafsTer?) c.1192_1198dup (p.Val400AlafsTer?) c.1100_1106dup (p.Pro370Ter) n.1626_1632dup c.1450_1456dup (p.Val486AlafsTer?) | ClinVar dbSNP |
| 4 | g.6301237T>A | CA356174973 | WFS1 | c.1478T>A (p.Leu493Gln) c.1419T>A c.1442T>A (p.Leu481Gln) c.1193T>A (p.Leu398Gln) c.1101T>A (p.Pro367=) n.1627T>A c.1451T>A (p.Leu484Gln) | gnomAD v4 |
| 4 | g.6301237T>C | CA2839353 | WFS1 | c.1478T>C (p.Leu493Pro) c.1419T>C c.1442T>C (p.Leu481Pro) c.1193T>C (p.Leu398Pro) c.1101T>C (p.Pro367=) n.1627T>C c.1451T>C (p.Leu484Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301237T>G | CA356174974 | WFS1 | c.1478T>G (p.Leu493Arg) c.1419T>G c.1442T>G (p.Leu481Arg) c.1193T>G (p.Leu398Arg) c.1101T>G (p.Pro367=) n.1627T>G c.1451T>G (p.Leu484Arg) | gnomAD v4 |
| 4 | g.6301237T= | CA1435772962 | WFS1 | c.1478T= (p.Leu493=) c.1419T= c.1442T= (p.Leu481=) c.1193T= (p.Leu398=) c.1101T= (p.Pro367=) n.1627T= c.1451T= (p.Leu484=) | |
| 4 | g.6301238G>A | CA91796269 | WFS1 | c.1479G>A (p.Leu493=) c.1420G>A c.1443G>A (p.Leu481=) c.1194G>A (p.Leu398=) c.1102G>A (p.Glu368Lys) n.1628G>A c.1452G>A (p.Leu484=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301238G>C | CA438368943 | WFS1 | c.1479G>C (p.Leu493=) c.1420G>C c.1443G>C (p.Leu481=) c.1194G>C (p.Leu398=) c.1102G>C (p.Glu368Gln) n.1628G>C c.1452G>C (p.Leu484=) | |
| 4 | g.6301238G= | CA1435772967 | WFS1 | c.1479G= (p.Leu493=) c.1420G= c.1443G= (p.Leu481=) c.1194G= (p.Leu398=) c.1102G= (p.Glu368=) n.1628G= c.1452G= (p.Leu484=) | |
| 4 | g.6301238G>T | CA91796270 | WFS1 | c.1479G>T (p.Leu493=) c.1420G>T c.1443G>T (p.Leu481=) c.1194G>T (p.Leu398=) c.1102G>T (p.Glu368Ter) n.1628G>T c.1452G>T (p.Leu484=) | dbSNP gnomAD v4 |
| 4 | g.6301239A>C | CA356174978 | WFS1 | c.1480A>C (p.Lys494Gln) c.1421A>C c.1444A>C (p.Lys482Gln) c.1195A>C (p.Lys399Gln) c.1103A>C (p.Glu368Ala) n.1629A>C c.1453A>C (p.Lys485Gln) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301239A>G | CA356174979 | WFS1 | c.1480A>G (p.Lys494Glu) c.1421A>G c.1444A>G (p.Lys482Glu) c.1195A>G (p.Lys399Glu) c.1103A>G (p.Glu368Gly) n.1629A>G c.1453A>G (p.Lys485Glu) | gnomAD v4 |
| 4 | g.6301239A>T | CA356174981 | WFS1 | c.1480A>T (p.Lys494Ter) c.1421A>T c.1444A>T (p.Lys482Ter) c.1195A>T (p.Lys399Ter) c.1103A>T (p.Glu368Val) n.1629A>T c.1453A>T (p.Lys485Ter) | |
| 4 | g.6301240A= | CA1435772971 | WFS1 | c.1481A= (p.Lys494=) c.1422A= c.1445A= (p.Lys482=) c.1196A= (p.Lys399=) c.1104A= (p.Glu368=) n.1630A= c.1454A= (p.Lys485=) | |
| 4 | g.6301240A>C | CA356174984 | WFS1 | c.1481A>C (p.Lys494Thr) c.1422A>C c.1445A>C (p.Lys482Thr) c.1196A>C (p.Lys399Thr) c.1104A>C (p.Glu368Asp) n.1630A>C c.1454A>C (p.Lys485Thr) | |
| 4 | g.6301240A>G | CA91796271 | WFS1 | c.1481A>G (p.Lys494Arg) c.1422A>G c.1445A>G (p.Lys482Arg) c.1196A>G (p.Lys399Arg) c.1104A>G (p.Glu368=) n.1630A>G c.1454A>G (p.Lys485Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301240A>T | CA356174986 | WFS1 | c.1481A>T (p.Lys494Met) c.1422A>T c.1445A>T (p.Lys482Met) c.1196A>T (p.Lys399Met) c.1104A>T (p.Glu368Asp) n.1630A>T c.1454A>T (p.Lys485Met) | |
| 4 | g.6301241G>A | CA2839355 | WFS1 | c.1482G>A (p.Lys494=) c.1423G>A c.1446G>A (p.Lys482=) c.1197G>A (p.Lys399=) c.1105G>A (p.Gly369Ser) n.1631G>A c.1455G>A (p.Lys485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301241G>C | CA356174990 | WFS1 | c.1482G>C (p.Lys494Asn) c.1423G>C c.1446G>C (p.Lys482Asn) c.1197G>C (p.Lys399Asn) c.1105G>C (p.Gly369Arg) n.1631G>C c.1455G>C (p.Lys485Asn) | ClinVar dbSNP |
| 4 | g.6301241G= | CA1435772976 | WFS1 | c.1482G= (p.Lys494=) c.1423G= c.1446G= (p.Lys482=) c.1197G= (p.Lys399=) c.1105G= (p.Gly369=) n.1631G= c.1455G= (p.Lys485=) | |
| 4 | g.6301241G>T | CA2839354 | WFS1 | c.1482G>T (p.Lys494Asn) c.1423G>T c.1446G>T (p.Lys482Asn) c.1197G>T (p.Lys399Asn) c.1105G>T (p.Gly369Cys) n.1631G>T c.1455G>T (p.Lys485Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301242G>A | CA356174992 | WFS1 | c.1483G>A (p.Val495Ile) c.1424G>A c.1447G>A (p.Val483Ile) c.1198G>A (p.Val400Ile) c.1106G>A (p.Gly369Asp) n.1632G>A c.1456G>A (p.Val486Ile) | gnomAD v4 |
| 4 | g.6301242G>C | CA356174994 | WFS1 | c.1483G>C (p.Val495Leu) c.1424G>C c.1447G>C (p.Val483Leu) c.1198G>C (p.Val400Leu) c.1106G>C (p.Gly369Ala) n.1632G>C c.1456G>C (p.Val486Leu) | |
| 4 | g.6301242G>T | CA356174997 | WFS1 | c.1483G>T (p.Val495Phe) c.1424G>T c.1447G>T (p.Val483Phe) c.1198G>T (p.Val400Phe) c.1106G>T (p.Gly369Val) n.1632G>T c.1456G>T (p.Val486Phe) | |
| 4 | g.6301243T>A | CA356174999 | WFS1 | c.1484T>A (p.Val495Asp) c.1425T>A c.1448T>A (p.Val483Asp) c.1199T>A (p.Val400Asp) c.1107T>A (p.Gly369=) n.1633T>A c.1457T>A (p.Val486Asp) | |
| 4 | g.6301243T>C | CA356175001 | WFS1 | c.1484T>C (p.Val495Ala) c.1425T>C c.1448T>C (p.Val483Ala) c.1199T>C (p.Val400Ala) c.1107T>C (p.Gly369=) n.1633T>C c.1457T>C (p.Val486Ala) | gnomAD v4 |
| 4 | g.6301243T>G | CA356175003 | WFS1 | c.1484T>G (p.Val495Gly) c.1425T>G c.1448T>G (p.Val483Gly) c.1199T>G (p.Val400Gly) c.1107T>G (p.Gly369=) n.1633T>G c.1457T>G (p.Val486Gly) | gnomAD v4 |
| 4 | g.6301244C>A | CA438368955 | WFS1 | c.1485C>A (p.Val495=) c.1426C>A c.1449C>A (p.Val483=) c.1200C>A (p.Val400=) c.1108C>A (p.Pro370Thr) n.1634C>A c.1458C>A (p.Val486=) | |
| 4 | g.6301244C= | CA1435772982 | WFS1 | c.1485C= (p.Val495=) c.1426C= c.1449C= (p.Val483=) c.1200C= (p.Val400=) c.1108C= (p.Pro370=) n.1634C= c.1458C= (p.Val486=) | |
| 4 | g.6301244C>G | CA438368956 | WFS1 | c.1485C>G (p.Val495=) c.1426C>G c.1449C>G (p.Val483=) c.1200C>G (p.Val400=) c.1108C>G (p.Pro370Ala) n.1634C>G c.1458C>G (p.Val486=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301244C>T | CA438368957 | WFS1 | c.1485C>T (p.Val495=) c.1426C>T c.1449C>T (p.Val483=) c.1200C>T (p.Val400=) c.1108C>T (p.Pro370Ser) n.1634C>T c.1458C>T (p.Val486=) | |
| 4 | g.6301245C>A | CA356175005 | WFS1 | c.1486C>A (p.Leu496Ile) c.1427C>A c.1450C>A (p.Leu484Ile) c.1201C>A (p.Leu401Ile) c.1109C>A (p.Pro370His) n.1635C>A c.1459C>A (p.Leu487Ile) | |
| 4 | g.6301245C= | CA1435772985 | WFS1 | c.1486C= (p.Leu496=) c.1427C= c.1450C= (p.Leu484=) c.1201C= (p.Leu401=) c.1109C= (p.Pro370=) n.1635C= c.1459C= (p.Leu487=) | |
| 4 | g.6301245C>G | CA356175007 | WFS1 | c.1486C>G (p.Leu496Val) c.1427C>G c.1450C>G (p.Leu484Val) c.1201C>G (p.Leu401Val) c.1109C>G (p.Pro370Arg) n.1635C>G c.1459C>G (p.Leu487Val) | |
| 4 | g.6301245C>T | CA356175009 | WFS1 | c.1486C>T (p.Leu496Phe) c.1427C>T c.1450C>T (p.Leu484Phe) c.1201C>T (p.Leu401Phe) c.1109C>T (p.Pro370Leu) n.1635C>T c.1459C>T (p.Leu487Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301245_6301246del | CA2578035809 | WFS1 | c.1486_1487del (p.Leu496TrpfsTer?) c.1427_1428del c.1450_1451del (p.Leu484TrpfsTer?) c.1201_1202del (p.Leu401TrpfsTer?) c.1109_1110del (p.Pro370LeufsTer?) n.1635_1636del c.1459_1460del (p.Leu487TrpfsTer?) | |
| 4 | g.6301246T>A | CA356175011 | WFS1 | c.1487T>A (p.Leu496His) c.1428T>A c.1451T>A (p.Leu484His) c.1202T>A (p.Leu401His) c.1110T>A (p.Pro370=) n.1636T>A c.1460T>A (p.Leu487His) | gnomAD v4 |
| 4 | g.6301246T>C | CA2839356 | WFS1 | c.1487T>C (p.Leu496Pro) c.1428T>C c.1451T>C (p.Leu484Pro) c.1202T>C (p.Leu401Pro) c.1110T>C (p.Pro370=) n.1636T>C c.1460T>C (p.Leu487Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301246T>G | CA356175014 | WFS1 | c.1487T>G (p.Leu496Arg) c.1428T>G c.1451T>G (p.Leu484Arg) c.1202T>G (p.Leu401Arg) c.1110T>G (p.Pro370=) n.1636T>G c.1460T>G (p.Leu487Arg) | |
| 4 | g.6301246T= | CA1435772989 | WFS1 | c.1487T= (p.Leu496=) c.1428T= c.1451T= (p.Leu484=) c.1202T= (p.Leu401=) c.1110T= (p.Pro370=) n.1636T= c.1460T= (p.Leu487=) | |
| 4 | g.6301247_6301258dup | CA2669843435 | WFS1 | c.1488_1499dup (p.Phe500_Ile501insGlyGlnThrPhe) c.1429_1440dup c.1452_1463dup (p.Phe488_Ile489insGlyGlnThrPhe) c.1203_1214dup (p.Phe405_Ile406insGlyGlnThrPhe) c.1111_1122dup (p.Leu374_His375insTrpProAspLeu) n.1637_1648dup c.1461_1472dup (p.Phe491_Ile492insGlyGlnThrPhe) | gnomAD v4 |
| 4 | g.6301247T>A | CA438368961 | WFS1 | c.1488T>A (p.Leu496=) c.1429T>A c.1452T>A (p.Leu484=) c.1203T>A (p.Leu401=) c.1111T>A (p.Trp371Arg) n.1637T>A c.1461T>A (p.Leu487=) | |
| 4 | g.6301247T>C | CA10586892 | WFS1 | c.1488T>C (p.Leu496=) c.1429T>C c.1452T>C (p.Leu484=) c.1203T>C (p.Leu401=) c.1111T>C (p.Trp371Arg) n.1637T>C c.1461T>C (p.Leu487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301247T>G | CA2839357 | WFS1 | c.1488T>G (p.Leu496=) c.1429T>G c.1452T>G (p.Leu484=) c.1203T>G (p.Leu401=) c.1111T>G (p.Trp371Gly) n.1637T>G c.1461T>G (p.Leu487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301247T= | CA1435772993 | WFS1 | c.1488T= (p.Leu496=) c.1429T= c.1452T= (p.Leu484=) c.1203T= (p.Leu401=) c.1111T= (p.Trp371=) n.1637T= c.1461T= (p.Leu487=) | |
| 4 | g.6301248G>A | CA356175018 | WFS1 | c.1489G>A (p.Gly497Ser) c.1430G>A c.1453G>A (p.Gly485Ser) c.1204G>A (p.Gly402Ser) c.1112G>A (p.Trp371Ter) n.1638G>A c.1462G>A (p.Gly488Ser) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301248G>C | CA356175022 | WFS1 | c.1489G>C (p.Gly497Arg) c.1430G>C c.1453G>C (p.Gly485Arg) c.1204G>C (p.Gly402Arg) c.1112G>C (p.Trp371Ser) n.1638G>C c.1462G>C (p.Gly488Arg) | |
| 4 | g.6301248G= | CA1435772998 | WFS1 | c.1489G= (p.Gly497=) c.1430G= c.1453G= (p.Gly485=) c.1204G= (p.Gly402=) c.1112G= (p.Trp371=) n.1638G= c.1462G= (p.Gly488=) | |
| 4 | g.6301248G>T | CA356175020 | WFS1 | c.1489G>T (p.Gly497Cys) c.1430G>T c.1453G>T (p.Gly485Cys) c.1204G>T (p.Gly402Cys) c.1112G>T (p.Trp371Leu) n.1638G>T c.1462G>T (p.Gly488Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301249G>A | CA356175024 | WFS1 | c.1490G>A (p.Gly497Asp) c.1431G>A c.1454G>A (p.Gly485Asp) c.1205G>A (p.Gly402Asp) c.1113G>A (p.Trp371Ter) n.1639G>A c.1463G>A (p.Gly488Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301249G>C | CA356175028 | WFS1 | c.1490G>C (p.Gly497Ala) c.1431G>C c.1454G>C (p.Gly485Ala) c.1205G>C (p.Gly402Ala) c.1113G>C (p.Trp371Cys) n.1639G>C c.1463G>C (p.Gly488Ala) | |
| 4 | g.6301249G= | CA1435772999 | WFS1 | c.1490G= (p.Gly497=) c.1431G= c.1454G= (p.Gly485=) c.1205G= (p.Gly402=) c.1113G= (p.Trp371=) n.1639G= c.1463G= (p.Gly488=) | |
| 4 | g.6301249G>T | CA356175026 | WFS1 | c.1490G>T (p.Gly497Val) c.1431G>T c.1454G>T (p.Gly485Val) c.1205G>T (p.Gly402Val) c.1113G>T (p.Trp371Cys) n.1639G>T c.1463G>T (p.Gly488Val) | gnomAD v4 |
| 4 | g.6301250C>A | CA438368969 | WFS1 | c.1491C>A (p.Gly497=) c.1432C>A c.1455C>A (p.Gly485=) c.1206C>A (p.Gly402=) c.1114C>A (p.Pro372Thr) n.1640C>A c.1464C>A (p.Gly488=) | gnomAD v4 |
| 4 | g.6301250C= | CA1435773001 | WFS1 | c.1491C= (p.Gly497=) c.1432C= c.1455C= (p.Gly485=) c.1206C= (p.Gly402=) c.1114C= (p.Pro372=) n.1640C= c.1464C= (p.Gly488=) | |
| 4 | g.6301250C>G | CA438368970 | WFS1 | c.1491C>G (p.Gly497=) c.1432C>G c.1455C>G (p.Gly485=) c.1206C>G (p.Gly402=) c.1114C>G (p.Pro372Ala) n.1640C>G c.1464C>G (p.Gly488=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301250C>T | CA438368971 | WFS1 | c.1491C>T (p.Gly497=) c.1432C>T c.1455C>T (p.Gly485=) c.1206C>T (p.Gly402=) c.1114C>T (p.Pro372Ser) n.1640C>T c.1464C>T (p.Gly488=) | gnomAD v4 |
| 4 | g.6301251C>A | CA356175031 | WFS1 | c.1492C>A (p.Gln498Lys) c.1433C>A c.1456C>A (p.Gln486Lys) c.1207C>A (p.Gln403Lys) c.1115C>A (p.Pro372Gln) n.1641C>A c.1465C>A (p.Gln489Lys) | |
| 4 | g.6301251C= | CA1435773003 | WFS1 | c.1492C= (p.Gln498=) c.1433C= c.1456C= (p.Gln486=) c.1207C= (p.Gln403=) c.1115C= (p.Pro372=) n.1641C= c.1465C= (p.Gln489=) | |
| 4 | g.6301251C>G | CA356175033 | WFS1 | c.1492C>G (p.Gln498Glu) c.1433C>G c.1456C>G (p.Gln486Glu) c.1207C>G (p.Gln403Glu) c.1115C>G (p.Pro372Arg) n.1641C>G c.1465C>G (p.Gln489Glu) | |
| 4 | g.6301251C>T | CA356175032 | WFS1 | c.1492C>T (p.Gln498Ter) c.1433C>T c.1456C>T (p.Gln486Ter) c.1207C>T (p.Gln403Ter) c.1115C>T (p.Pro372Leu) n.1641C>T c.1465C>T (p.Gln489Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301252A>C | CA356175036 | WFS1 | c.1493A>C (p.Gln498Pro) c.1434A>C c.1457A>C (p.Gln486Pro) c.1208A>C (p.Gln403Pro) c.1116A>C (p.Pro372=) n.1642A>C c.1466A>C (p.Gln489Pro) | gnomAD v4 |
| 4 | g.6301252A>G | CA356175040 | WFS1 | c.1493A>G (p.Gln498Arg) c.1434A>G c.1457A>G (p.Gln486Arg) c.1208A>G (p.Gln403Arg) c.1116A>G (p.Pro372=) n.1642A>G c.1466A>G (p.Gln489Arg) | gnomAD v4 |
| 4 | g.6301252A>T | CA356175038 | WFS1 | c.1493A>T (p.Gln498Leu) c.1434A>T c.1457A>T (p.Gln486Leu) c.1208A>T (p.Gln403Leu) c.1116A>T (p.Pro372=) n.1642A>T c.1466A>T (p.Gln489Leu) | ClinVar dbSNP |
| 4 | g.6301252_6301253insAG | CA2578035814 | WFS1 | c.1493_1494insAG (p.Thr499GlyfsTer?) c.1434_1435insAG c.1457_1458insAG (p.Thr487GlyfsTer?) c.1208_1209insAG (p.Thr404GlyfsTer?) c.1116_1117insAG (p.Asp373ArgfsTer?) n.1642_1643insAG c.1466_1467insAG (p.Thr490GlyfsTer?) | |
| 4 | g.6301253G>A | CA2839359 | WFS1 | c.1494G>A (p.Gln498=) c.1435G>A c.1458G>A (p.Gln486=) c.1209G>A (p.Gln403=) c.1117G>A (p.Asp373Asn) n.1643G>A c.1467G>A (p.Gln489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301253G>C | CA2839358 | WFS1 | c.1494G>C (p.Gln498His) c.1435G>C c.1458G>C (p.Gln486His) c.1209G>C (p.Gln403His) c.1117G>C (p.Asp373His) n.1643G>C c.1467G>C (p.Gln489His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301253G= | CA1435773006 | WFS1 | c.1494G= (p.Gln498=) c.1435G= c.1458G= (p.Gln486=) c.1209G= (p.Gln403=) c.1117G= (p.Asp373=) n.1643G= c.1467G= (p.Gln489=) | |
| 4 | g.6301253G>T | CA356175043 | WFS1 | c.1494G>T (p.Gln498His) c.1435G>T c.1458G>T (p.Gln486His) c.1209G>T (p.Gln403His) c.1117G>T (p.Asp373Tyr) n.1643G>T c.1467G>T (p.Gln489His) | gnomAD v4 |
| 4 | g.6301254A= | CA1435773009 | WFS1 | c.1495A= (p.Thr499=) c.1436A= c.1459A= (p.Thr487=) c.1210A= (p.Thr404=) c.1118A= (p.Asp373=) n.1644A= c.1468A= (p.Thr490=) | |
| 4 | g.6301254A>C | CA356175044 | WFS1 | c.1495A>C (p.Thr499Pro) c.1436A>C c.1459A>C (p.Thr487Pro) c.1210A>C (p.Thr404Pro) c.1118A>C (p.Asp373Ala) n.1644A>C c.1468A>C (p.Thr490Pro) | |
| 4 | g.6301254A>G | CA91796272 | WFS1 | c.1495A>G (p.Thr499Ala) c.1436A>G c.1459A>G (p.Thr487Ala) c.1210A>G (p.Thr404Ala) c.1118A>G (p.Asp373Gly) n.1644A>G c.1468A>G (p.Thr490Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301254A>T | CA356175047 | WFS1 | c.1495A>T (p.Thr499Ser) c.1436A>T c.1459A>T (p.Thr487Ser) c.1210A>T (p.Thr404Ser) c.1118A>T (p.Asp373Val) n.1644A>T c.1468A>T (p.Thr490Ser) | |
| 4 | g.6301255C>A | CA356175049 | WFS1 | c.1496C>A (p.Thr499Asn) c.1437C>A c.1460C>A (p.Thr487Asn) c.1211C>A (p.Thr404Asn) c.1119C>A (p.Asp373Glu) n.1645C>A c.1469C>A (p.Thr490Asn) | gnomAD v4 |
| 4 | g.6301255C= | CA1435773015 | WFS1 | c.1496C= (p.Thr499=) c.1437C= c.1460C= (p.Thr487=) c.1211C= (p.Thr404=) c.1119C= (p.Asp373=) n.1645C= c.1469C= (p.Thr490=) | |
| 4 | g.6301255C>G | CA2839360 | WFS1 | c.1496C>G (p.Thr499Ser) c.1437C>G c.1460C>G (p.Thr487Ser) c.1211C>G (p.Thr404Ser) c.1119C>G (p.Asp373Glu) n.1645C>G c.1469C>G (p.Thr490Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301255C>T | CA2839361 | WFS1 | c.1496C>T (p.Thr499Ile) c.1437C>T c.1460C>T (p.Thr487Ile) c.1211C>T (p.Thr404Ile) c.1119C>T (p.Asp373=) n.1645C>T c.1469C>T (p.Thr490Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301256C>A | CA438368976 | WFS1 | c.1497C>A (p.Thr499=) c.1438C>A c.1461C>A (p.Thr487=) c.1212C>A (p.Thr404=) c.1120C>A (p.Leu374Ile) n.1646C>A c.1470C>A (p.Thr490=) | |
| 4 | g.6301256C= | CA1435773019 | WFS1 | c.1497C= (p.Thr499=) c.1438C= c.1461C= (p.Thr487=) c.1212C= (p.Thr404=) c.1120C= (p.Leu374=) n.1646C= c.1470C= (p.Thr490=) | |
| 4 | g.6301256C>G | CA438368977 | WFS1 | c.1497C>G (p.Thr499=) c.1438C>G c.1461C>G (p.Thr487=) c.1212C>G (p.Thr404=) c.1120C>G (p.Leu374Val) n.1646C>G c.1470C>G (p.Thr490=) | gnomAD v4 |
| 4 | g.6301256C>T | CA2839362 | WFS1 | c.1497C>T (p.Thr499=) c.1438C>T c.1461C>T (p.Thr487=) c.1212C>T (p.Thr404=) c.1120C>T (p.Leu374Phe) n.1646C>T c.1470C>T (p.Thr490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301257_6301259del | CA2580071770 | WFS1 | c.1498_1500del (p.Phe500del) c.1439_1441del c.1462_1464del (p.Phe488del) c.1213_1215del (p.Phe405del) c.1121_1123del (p.Leu374del) n.1647_1649del c.1471_1473del (p.Phe491del) | ClinVar |
| 4 | g.6301257T>A | CA356175054 | WFS1 | c.1498T>A (p.Phe500Ile) c.1439T>A c.1462T>A (p.Phe488Ile) c.1213T>A (p.Phe405Ile) c.1121T>A (p.Leu374His) n.1647T>A c.1471T>A (p.Phe491Ile) | |
| 4 | g.6301257T>C | CA356175056 | WFS1 | c.1498T>C (p.Phe500Leu) c.1439T>C c.1462T>C (p.Phe488Leu) c.1213T>C (p.Phe405Leu) c.1121T>C (p.Leu374Pro) n.1647T>C c.1471T>C (p.Phe491Leu) | |
| 4 | g.6301257T>G | CA356175058 | WFS1 | c.1498T>G (p.Phe500Val) c.1439T>G c.1462T>G (p.Phe488Val) c.1213T>G (p.Phe405Val) c.1121T>G (p.Leu374Arg) n.1647T>G c.1471T>G (p.Phe491Val) | |
| 4 | g.6301258del | CA2669843436 | WFS1 | c.1499del (p.Phe500SerfsTer?) c.1440del c.1463del (p.Phe488SerfsTer?) c.1214del (p.Phe405SerfsTer?) c.1122del (p.His375IlefsTer?) n.1648del c.1472del (p.Phe491SerfsTer?) | gnomAD v4 |
| 4 | g.6301258T>A | CA356175060 | WFS1 | c.1499T>A (p.Phe500Tyr) c.1440T>A c.1463T>A (p.Phe488Tyr) c.1214T>A (p.Phe405Tyr) c.1122T>A (p.Leu374=) n.1648T>A c.1472T>A (p.Phe491Tyr) | |
| 4 | g.6301258T>C | CA356175065 | WFS1 | c.1499T>C (p.Phe500Ser) c.1440T>C c.1463T>C (p.Phe488Ser) c.1214T>C (p.Phe405Ser) c.1122T>C (p.Leu374=) n.1648T>C c.1472T>C (p.Phe491Ser) | dbSNP gnomAD v2 |
| 4 | g.6301258T>G | CA356175063 | WFS1 | c.1499T>G (p.Phe500Cys) c.1440T>G c.1463T>G (p.Phe488Cys) c.1214T>G (p.Phe405Cys) c.1122T>G (p.Leu374=) n.1648T>G c.1472T>G (p.Phe491Cys) | |
| 4 | g.6301258T= | CA1435773021 | WFS1 | c.1499T= (p.Phe500=) c.1440T= c.1463T= (p.Phe488=) c.1214T= (p.Phe405=) c.1122T= (p.Leu374=) n.1648T= c.1472T= (p.Phe491=) | |
| 4 | g.6301258_6301269dup | CA2586973624 | WFS1 | c.1499_1510dup (p.Val503_Pro504insLeuIleThrVal) c.1440_1451dup c.1463_1474dup (p.Val491_Pro492insLeuIleThrVal) c.1214_1225dup (p.Val408_Pro409insLeuIleThrVal) c.1122_1133dup (p.Ala378_Cys379insHisHisArgAla) n.1648_1659dup c.1472_1483dup (p.Val494_Pro495insLeuIleThrVal) | |
| 4 | g.6301259C>A | CA356175067 | WFS1 | c.1500C>A (p.Phe500Leu) c.1441C>A c.1464C>A (p.Phe488Leu) c.1215C>A (p.Phe405Leu) c.1123C>A (p.His375Asn) n.1649C>A c.1473C>A (p.Phe491Leu) | |
| 4 | g.6301259C= | CA1435773023 | WFS1 | c.1500C= (p.Phe500=) c.1441C= c.1464C= (p.Phe488=) c.1215C= (p.Phe405=) c.1123C= (p.His375=) n.1649C= c.1473C= (p.Phe491=) | |
| 4 | g.6301259C>G | CA356175069 | WFS1 | c.1500C>G (p.Phe500Leu) c.1441C>G c.1464C>G (p.Phe488Leu) c.1215C>G (p.Phe405Leu) c.1123C>G (p.His375Asp) n.1649C>G c.1473C>G (p.Phe491Leu) | |
| 4 | g.6301259C>T | CA438368980 | WFS1 | c.1500C>T (p.Phe500=) c.1441C>T c.1464C>T (p.Phe488=) c.1215C>T (p.Phe405=) c.1123C>T (p.His375Tyr) n.1649C>T c.1473C>T (p.Phe491=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301260A= | CA1435773025 | WFS1 | c.1501A= (p.Ile501=) c.1442A= c.1465A= (p.Ile489=) c.1216A= (p.Ile406=) c.1124A= (p.His375=) n.1650A= c.1474A= (p.Ile492=) | |
| 4 | g.6301260A>C | CA356175070 | WFS1 | c.1501A>C (p.Ile501Leu) c.1442A>C c.1465A>C (p.Ile489Leu) c.1216A>C (p.Ile406Leu) c.1124A>C (p.His375Pro) n.1650A>C c.1474A>C (p.Ile492Leu) | gnomAD v4 |
| 4 | g.6301260A>G | CA2839363 | WFS1 | c.1501A>G (p.Ile501Val) c.1442A>G c.1465A>G (p.Ile489Val) c.1216A>G (p.Ile406Val) c.1124A>G (p.His375Arg) n.1650A>G c.1474A>G (p.Ile492Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301260A>T | CA356175073 | WFS1 | c.1501A>T (p.Ile501Phe) c.1442A>T c.1465A>T (p.Ile489Phe) c.1216A>T (p.Ile406Phe) c.1124A>T (p.His375Leu) n.1650A>T c.1474A>T (p.Ile492Phe) | |
| 4 | g.6301261T>A | CA2839364 | WFS1 | c.1502T>A (p.Ile501Asn) c.1443T>A c.1466T>A (p.Ile489Asn) c.1217T>A (p.Ile406Asn) c.1125T>A (p.His375Gln) n.1651T>A c.1475T>A (p.Ile492Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301261T>C | CA356175076 | WFS1 | c.1502T>C (p.Ile501Thr) c.1443T>C c.1466T>C (p.Ile489Thr) c.1217T>C (p.Ile406Thr) c.1125T>C (p.His375=) n.1651T>C c.1475T>C (p.Ile492Thr) | dbSNP gnomAD v4 |
| 4 | g.6301261T>G | CA356175078 | WFS1 | c.1502T>G (p.Ile501Ser) c.1443T>G c.1466T>G (p.Ile489Ser) c.1217T>G (p.Ile406Ser) c.1125T>G (p.His375Gln) n.1651T>G c.1475T>G (p.Ile492Ser) | |
| 4 | g.6301261T= | CA1435773028 | WFS1 | c.1502T= (p.Ile501=) c.1443T= c.1466T= (p.Ile489=) c.1217T= (p.Ile406=) c.1125T= (p.His375=) n.1651T= c.1475T= (p.Ile492=) | |
| 4 | g.6301262C>A | CA438368986 | WFS1 | c.1503C>A (p.Ile501=) c.1444C>A c.1467C>A (p.Ile489=) c.1218C>A (p.Ile406=) c.1126C>A (p.His376Asn) n.1652C>A c.1476C>A (p.Ile492=) | |
| 4 | g.6301262C= | CA1435773035 | WFS1 | c.1503C= (p.Ile501=) c.1444C= c.1467C= (p.Ile489=) c.1218C= (p.Ile406=) c.1126C= (p.His376=) n.1652C= c.1476C= (p.Ile492=) | |
| 4 | g.6301262C>G | CA2839365 | WFS1 | c.1503C>G (p.Ile501Met) c.1444C>G c.1467C>G (p.Ile489Met) c.1218C>G (p.Ile406Met) c.1126C>G (p.His376Asp) n.1652C>G c.1476C>G (p.Ile492Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301262C>T | CA438368987 | WFS1 | c.1503C>T (p.Ile501=) c.1444C>T c.1467C>T (p.Ile489=) c.1218C>T (p.Ile406=) c.1126C>T (p.His376Tyr) n.1652C>T c.1476C>T (p.Ile492=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301263A= | CA1435773039 | WFS1 | c.1504A= (p.Thr502=) c.1445A= c.1468A= (p.Thr490=) c.1219A= (p.Thr407=) c.1127A= (p.His376=) n.1653A= c.1477A= (p.Thr493=) | |
| 4 | g.6301263A>C | CA356175086 | WFS1 | c.1504A>C (p.Thr502Pro) c.1445A>C c.1468A>C (p.Thr490Pro) c.1219A>C (p.Thr407Pro) c.1127A>C (p.His376Pro) n.1653A>C c.1477A>C (p.Thr493Pro) | gnomAD v4 |
| 4 | g.6301263A>G | CA356175084 | WFS1 | c.1504A>G (p.Thr502Ala) c.1445A>G c.1468A>G (p.Thr490Ala) c.1219A>G (p.Thr407Ala) c.1127A>G (p.His376Arg) n.1653A>G c.1477A>G (p.Thr493Ala) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301263A>T | CA356175082 | WFS1 | c.1504A>T (p.Thr502Ser) c.1445A>T c.1468A>T (p.Thr490Ser) c.1219A>T (p.Thr407Ser) c.1127A>T (p.His376Leu) n.1653A>T c.1477A>T (p.Thr493Ser) | |
| 4 | g.6301264C>A | CA356175088 | WFS1 | c.1505C>A (p.Thr502Asn) c.1446C>A c.1469C>A (p.Thr490Asn) c.1220C>A (p.Thr407Asn) c.1128C>A (p.His376Gln) n.1654C>A c.1478C>A (p.Thr493Asn) | gnomAD v4 |
| 4 | g.6301264C= | CA1435773042 | WFS1 | c.1505C= (p.Thr502=) c.1446C= c.1469C= (p.Thr490=) c.1220C= (p.Thr407=) c.1128C= (p.His376=) n.1654C= c.1478C= (p.Thr493=) | |
| 4 | g.6301264C>G | CA356175090 | WFS1 | c.1505C>G (p.Thr502Ser) c.1446C>G c.1469C>G (p.Thr490Ser) c.1220C>G (p.Thr407Ser) c.1128C>G (p.His376Gln) n.1654C>G c.1478C>G (p.Thr493Ser) | gnomAD v4 |
| 4 | g.6301264C>T | CA91796273 | WFS1 | c.1505C>T (p.Thr502Ile) c.1446C>T c.1469C>T (p.Thr490Ile) c.1220C>T (p.Thr407Ile) c.1128C>T (p.His376=) n.1654C>T c.1478C>T (p.Thr493Ile) | dbSNP gnomAD v2 |
| 4 | g.6301273_6301313del | CA2669843437 | WFS1 | c.1514_1554del (p.Val505AlafsTer?) c.1455_1495del c.1478_1518del (p.Val493AlafsTer?) c.1229_1269del (p.Val410AlafsTer?) c.1137_1177del (p.Arg380SerfsTer15) n.1663_1703del c.1487_1527del (p.Val496AlafsTer?) | gnomAD v4 |
| 4 | g.6301265C>A | CA438368989 | WFS1 | c.1506C>A (p.Thr502=) c.1447C>A c.1470C>A (p.Thr490=) c.1221C>A (p.Thr407=) c.1129C>A (p.Arg377Ser) n.1655C>A c.1479C>A (p.Thr493=) | |
| 4 | g.6301265C= | CA1435773047 | WFS1 | c.1506C= (p.Thr502=) c.1447C= c.1470C= (p.Thr490=) c.1221C= (p.Thr407=) c.1129C= (p.Arg377=) n.1655C= c.1479C= (p.Thr493=) | |
| 4 | g.6301265C>G | CA438368990 | WFS1 | c.1506C>G (p.Thr502=) c.1447C>G c.1470C>G (p.Thr490=) c.1221C>G (p.Thr407=) c.1129C>G (p.Arg377Gly) n.1655C>G c.1479C>G (p.Thr493=) | |
| 4 | g.6301265C>T | CA182620 | WFS1 | c.1506C>T (p.Thr502=) c.1447C>T c.1470C>T (p.Thr490=) c.1221C>T (p.Thr407=) c.1129C>T (p.Arg377Cys) n.1655C>T c.1479C>T (p.Thr493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301266G>A | CA2839366 | WFS1 | c.1507G>A (p.Val503Met) c.1448G>A c.1471G>A (p.Val491Met) c.1222G>A (p.Val408Met) c.1130G>A (p.Arg377His) n.1656G>A c.1480G>A (p.Val494Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301266G>C | CA356175096 | WFS1 | c.1507G>C (p.Val503Leu) c.1448G>C c.1471G>C (p.Val491Leu) c.1222G>C (p.Val408Leu) c.1130G>C (p.Arg377Pro) n.1656G>C c.1480G>C (p.Val494Leu) | |
| 4 | g.6301266G= | CA1435773050 | WFS1 | c.1507G= (p.Val503=) c.1448G= c.1471G= (p.Val491=) c.1222G= (p.Val408=) c.1130G= (p.Arg377=) n.1656G= c.1480G= (p.Val494=) | |
| 4 | g.6301266G>T | CA356175098 | WFS1 | c.1507G>T (p.Val503Leu) c.1448G>T c.1471G>T (p.Val491Leu) c.1222G>T (p.Val408Leu) c.1130G>T (p.Arg377Leu) n.1656G>T c.1480G>T (p.Val494Leu) | dbSNP gnomAD v3 gnomAD v4 |