| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301062_6301134dup | CA2669843422 | WFS1 | c.1303_1375dup (p.Leu459GlnfsTer?) c.1244_1316dup c.1267_1339dup (p.Leu447GlnfsTer?) c.1018_1090dup (p.Leu364GlnfsTer?) c.926_998dup (p.Glu334AlafsTer19) n.1452_1524dup c.1276_1348dup (p.Leu450GlnfsTer?) | gnomAD v4 |
| 4 | g.6301066A>C | CA356174578 | WFS1 | c.1307A>C (p.Lys436Thr) c.1248A>C c.1271A>C (p.Lys424Thr) c.1022A>C (p.Lys341Thr) c.930A>C (p.Gln310His) n.1456A>C c.1280A>C (p.Lys427Thr) | gnomAD v4 |
| 4 | g.6301066A>G | CA356174579 | WFS1 | c.1307A>G (p.Lys436Arg) c.1248A>G c.1271A>G (p.Lys424Arg) c.1022A>G (p.Lys341Arg) c.930A>G (p.Gln310=) n.1456A>G c.1280A>G (p.Lys427Arg) | |
| 4 | g.6301066A>T | CA356174580 | WFS1 | c.1307A>T (p.Lys436Met) c.1248A>T c.1271A>T (p.Lys424Met) c.1022A>T (p.Lys341Met) c.930A>T (p.Gln310His) n.1456A>T c.1280A>T (p.Lys427Met) | |
| 4 | g.6301067G>A | CA438368417 | WFS1 | c.1308G>A (p.Lys436=) c.1249G>A c.1272G>A (p.Lys424=) c.1023G>A (p.Lys341=) c.931G>A (p.Gly311Arg) n.1457G>A c.1281G>A (p.Lys427=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301067G>C | CA356174581 | WFS1 | c.1308G>C (p.Lys436Asn) c.1249G>C c.1272G>C (p.Lys424Asn) c.1023G>C (p.Lys341Asn) c.931G>C (p.Gly311Arg) n.1457G>C c.1281G>C (p.Lys427Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301067G= | CA1435772651 | WFS1 | c.1308G= (p.Lys436=) c.1249G= c.1272G= (p.Lys424=) c.1023G= (p.Lys341=) c.931G= (p.Gly311=) n.1457G= c.1281G= (p.Lys427=) | |
| 4 | g.6301067G>T | CA356174582 | WFS1 | c.1308G>T (p.Lys436Asn) c.1249G>T c.1272G>T (p.Lys424Asn) c.1023G>T (p.Lys341Asn) c.931G>T (p.Gly311Ter) n.1457G>T c.1281G>T (p.Lys427Asn) | |
| 4 | g.6301068G>A | CA91796245 | WFS1 | c.1309G>A (p.Asp437Asn) c.1250G>A c.1273G>A (p.Asp425Asn) c.1024G>A (p.Asp342Asn) c.932G>A (p.Gly311Glu) n.1458G>A c.1282G>A (p.Asp428Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301068G>C | CA356174583 | WFS1 | c.1309G>C (p.Asp437His) c.1250G>C c.1273G>C (p.Asp425His) c.1024G>C (p.Asp342His) c.932G>C (p.Gly311Ala) n.1458G>C c.1282G>C (p.Asp428His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301068G= | CA1435772653 | WFS1 | c.1309G= (p.Asp437=) c.1250G= c.1273G= (p.Asp425=) c.1024G= (p.Asp342=) c.932G= (p.Gly311=) n.1458G= c.1282G= (p.Asp428=) | |
| 4 | g.6301068G>T | CA356174584 | WFS1 | c.1309G>T (p.Asp437Tyr) c.1250G>T c.1273G>T (p.Asp425Tyr) c.1024G>T (p.Asp342Tyr) c.932G>T (p.Gly311Val) n.1458G>T c.1282G>T (p.Asp428Tyr) | |
| 4 | g.6301069A= | CA1435772654 | WFS1 | c.1310A= (p.Asp437=) c.1251A= c.1274A= (p.Asp425=) c.1025A= (p.Asp342=) c.933A= (p.Gly311=) n.1459A= c.1283A= (p.Asp428=) | |
| 4 | g.6301069A>C | CA2839292 | WFS1 | c.1310A>C (p.Asp437Ala) c.1251A>C c.1274A>C (p.Asp425Ala) c.1025A>C (p.Asp342Ala) c.933A>C (p.Gly311=) n.1459A>C c.1283A>C (p.Asp428Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301069A>G | CA356174585 | WFS1 | c.1310A>G (p.Asp437Gly) c.1251A>G c.1274A>G (p.Asp425Gly) c.1025A>G (p.Asp342Gly) c.933A>G (p.Gly311=) n.1459A>G c.1283A>G (p.Asp428Gly) | |
| 4 | g.6301069A>T | CA356174586 | WFS1 | c.1310A>T (p.Asp437Val) c.1251A>T c.1274A>T (p.Asp425Val) c.1025A>T (p.Asp342Val) c.933A>T (p.Gly311=) n.1459A>T c.1283A>T (p.Asp428Val) | |
| 4 | g.6301070C>A | CA356174587 | WFS1 | c.1311C>A (p.Asp437Glu) c.1252C>A c.1275C>A (p.Asp425Glu) c.1026C>A (p.Asp342Glu) c.934C>A (p.Leu312Met) n.1460C>A c.1284C>A (p.Asp428Glu) | |
| 4 | g.6301070C= | CA1435772656 | WFS1 | c.1311C= (p.Asp437=) c.1252C= c.1275C= (p.Asp425=) c.1026C= (p.Asp342=) c.934C= (p.Leu312=) n.1460C= c.1284C= (p.Asp428=) | |
| 4 | g.6301070C>G | CA356174588 | WFS1 | c.1311C>G (p.Asp437Glu) c.1252C>G c.1275C>G (p.Asp425Glu) c.1026C>G (p.Asp342Glu) c.934C>G (p.Leu312Val) n.1460C>G c.1284C>G (p.Asp428Glu) | |
| 4 | g.6301070C>T | CA438368422 | WFS1 | c.1311C>T (p.Asp437=) c.1252C>T c.1275C>T (p.Asp425=) c.1026C>T (p.Asp342=) c.934C>T (p.Leu312=) n.1460C>T c.1284C>T (p.Asp428=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301071T>A | CA356174589 | WFS1 | c.1312T>A (p.Cys438Ser) c.1253T>A c.1276T>A (p.Cys426Ser) c.1027T>A (p.Cys343Ser) c.935T>A (p.Leu312Gln) n.1461T>A c.1285T>A (p.Cys429Ser) | dbSNP |
| 4 | g.6301071T>C | CA356174590 | WFS1 | c.1312T>C (p.Cys438Arg) c.1253T>C c.1276T>C (p.Cys426Arg) c.1027T>C (p.Cys343Arg) c.935T>C (p.Leu312Pro) n.1461T>C c.1285T>C (p.Cys429Arg) | |
| 4 | g.6301071T>G | CA356174591 | WFS1 | c.1312T>G (p.Cys438Gly) c.1253T>G c.1276T>G (p.Cys426Gly) c.1027T>G (p.Cys343Gly) c.935T>G (p.Leu312Arg) n.1461T>G c.1285T>G (p.Cys429Gly) | |
| 4 | g.6301071T= | CA1435772658 | WFS1 | c.1312T= (p.Cys438=) c.1253T= c.1276T= (p.Cys426=) c.1027T= (p.Cys343=) c.935T= (p.Leu312=) n.1461T= c.1285T= (p.Cys429=) | |
| 4 | g.6301072G>A | CA282568 | WFS1 | c.1313G>A (p.Cys438Tyr) c.1254G>A c.1277G>A (p.Cys426Tyr) c.1028G>A (p.Cys343Tyr) c.936G>A (p.Leu312=) n.1462G>A c.1286G>A (p.Cys429Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301072G>C | CA2839293 | WFS1 | c.1313G>C (p.Cys438Ser) c.1254G>C c.1277G>C (p.Cys426Ser) c.1028G>C (p.Cys343Ser) c.936G>C (p.Leu312=) n.1462G>C c.1286G>C (p.Cys429Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301072G= | CA1435772659 | WFS1 | c.1313G= (p.Cys438=) c.1254G= c.1277G= (p.Cys426=) c.1028G= (p.Cys343=) c.936G= (p.Leu312=) n.1462G= c.1286G= (p.Cys429=) | |
| 4 | g.6301072G>T | CA356174592 | WFS1 | c.1313G>T (p.Cys438Phe) c.1254G>T c.1277G>T (p.Cys426Phe) c.1028G>T (p.Cys343Phe) c.936G>T (p.Leu312=) n.1462G>T c.1286G>T (p.Cys429Phe) | |
| 4 | g.6301073C>A | CA356174594 | WFS1 | c.1314C>A (p.Cys438Ter) c.1255C>A c.1278C>A (p.Cys426Ter) c.1029C>A (p.Cys343Ter) c.937C>A (p.His313Asn) n.1463C>A c.1287C>A (p.Cys429Ter) | |
| 4 | g.6301073C>G | CA356174593 | WFS1 | c.1314C>G (p.Cys438Trp) c.1255C>G c.1278C>G (p.Cys426Trp) c.1029C>G (p.Cys343Trp) c.937C>G (p.His313Asp) n.1463C>G c.1287C>G (p.Cys429Trp) | |
| 4 | g.6301073C>T | CA438368428 | WFS1 | c.1314C>T (p.Cys438=) c.1255C>T c.1278C>T (p.Cys426=) c.1029C>T (p.Cys343=) c.937C>T (p.His313Tyr) n.1463C>T c.1287C>T (p.Cys429=) | gnomAD v4 |
| 4 | g.6301074A>C | CA356174595 | WFS1 | c.1315A>C (p.Ile439Leu) c.1256A>C c.1279A>C (p.Ile427Leu) c.1030A>C (p.Ile344Leu) c.938A>C (p.His313Pro) n.1464A>C c.1288A>C (p.Ile430Leu) | |
| 4 | g.6301074A>G | CA356174596 | WFS1 | c.1315A>G (p.Ile439Val) c.1256A>G c.1279A>G (p.Ile427Val) c.1030A>G (p.Ile344Val) c.938A>G (p.His313Arg) n.1464A>G c.1288A>G (p.Ile430Val) | gnomAD v4 |
| 4 | g.6301074A>T | CA356174597 | WFS1 | c.1315A>T (p.Ile439Phe) c.1256A>T c.1279A>T (p.Ile427Phe) c.1030A>T (p.Ile344Phe) c.938A>T (p.His313Leu) n.1464A>T c.1288A>T (p.Ile430Phe) | |
| 4 | g.6301075T>A | CA356174598 | WFS1 | c.1316T>A (p.Ile439Asn) c.1257T>A c.1280T>A (p.Ile427Asn) c.1031T>A (p.Ile344Asn) c.939T>A (p.His313Gln) n.1465T>A c.1289T>A (p.Ile430Asn) | |
| 4 | g.6301075T>C | CA356174599 | WFS1 | c.1316T>C (p.Ile439Thr) c.1257T>C c.1280T>C (p.Ile427Thr) c.1031T>C (p.Ile344Thr) c.939T>C (p.His313=) n.1465T>C c.1289T>C (p.Ile430Thr) | |
| 4 | g.6301075T>G | CA356174600 | WFS1 | c.1316T>G (p.Ile439Ser) c.1257T>G c.1280T>G (p.Ile427Ser) c.1031T>G (p.Ile344Ser) c.939T>G (p.His313Gln) n.1465T>G c.1289T>G (p.Ile430Ser) | |
| 4 | g.6301076C>A | CA438368435 | WFS1 | c.1317C>A (p.Ile439=) c.1258C>A c.1281C>A (p.Ile427=) c.1032C>A (p.Ile344=) c.940C>A (p.Pro314Thr) n.1466C>A c.1290C>A (p.Ile430=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301076C= | CA1435772662 | WFS1 | c.1317C= (p.Ile439=) c.1258C= c.1281C= (p.Ile427=) c.1032C= (p.Ile344=) c.940C= (p.Pro314=) n.1466C= c.1290C= (p.Ile430=) | |
| 4 | g.6301076C>G | CA2839294 | WFS1 | c.1317C>G (p.Ile439Met) c.1258C>G c.1281C>G (p.Ile427Met) c.1032C>G (p.Ile344Met) c.940C>G (p.Pro314Ala) n.1466C>G c.1290C>G (p.Ile430Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301076C>T | CA91796246 | WFS1 | c.1317C>T (p.Ile439=) c.1258C>T c.1281C>T (p.Ile427=) c.1032C>T (p.Ile344=) c.940C>T (p.Pro314Ser) n.1466C>T c.1290C>T (p.Ile430=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301076_6301077delinsTT | CA645523667 | WFS1 | c.1317_1318delinsTT (p.Pro440Ser) c.1258_1259delinsTT c.1281_1282delinsTT (p.Pro428Ser) c.1032_1033delinsTT (p.Pro345Ser) c.940_941delinsTT (p.Pro314Phe) n.1466_1467delinsTT c.1290_1291delinsTT (p.Pro431Ser) | COSMIC |
| 4 | g.6301077C>A | CA356174601 | WFS1 | c.1318C>A (p.Pro440Thr) c.1259C>A c.1282C>A (p.Pro428Thr) c.1033C>A (p.Pro345Thr) c.941C>A (p.Pro314His) n.1467C>A c.1291C>A (p.Pro431Thr) | |
| 4 | g.6301077C>G | CA356174602 | WFS1 | c.1318C>G (p.Pro440Ala) c.1259C>G c.1282C>G (p.Pro428Ala) c.1033C>G (p.Pro345Ala) c.941C>G (p.Pro314Arg) n.1467C>G c.1291C>G (p.Pro431Ala) | ClinVar dbSNP |
| 4 | g.6301077C>T | CA356174603 | WFS1 | c.1318C>T (p.Pro440Ser) c.1259C>T c.1282C>T (p.Pro428Ser) c.1033C>T (p.Pro345Ser) c.941C>T (p.Pro314Leu) n.1467C>T c.1291C>T (p.Pro431Ser) | gnomAD v4 |
| 4 | g.6301078C>A | CA356174604 | WFS1 | c.1319C>A (p.Pro440His) c.1260C>A c.1283C>A (p.Pro428His) c.1034C>A (p.Pro345His) c.942C>A (p.Pro314=) n.1468C>A c.1292C>A (p.Pro431His) | |
| 4 | g.6301078C= | CA1435772664 | WFS1 | c.1319C= (p.Pro440=) c.1260C= c.1283C= (p.Pro428=) c.1034C= (p.Pro345=) c.942C= (p.Pro314=) n.1468C= c.1292C= (p.Pro431=) | |
| 4 | g.6301078C>G | CA356174605 | WFS1 | c.1319C>G (p.Pro440Arg) c.1260C>G c.1283C>G (p.Pro428Arg) c.1034C>G (p.Pro345Arg) c.942C>G (p.Pro314=) n.1468C>G c.1292C>G (p.Pro431Arg) | ClinVar gnomAD v4 |
| 4 | g.6301078C>T | CA2839295 | WFS1 | c.1319C>T (p.Pro440Leu) c.1260C>T c.1283C>T (p.Pro428Leu) c.1034C>T (p.Pro345Leu) c.942C>T (p.Pro314=) n.1468C>T c.1292C>T (p.Pro431Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301079C>A | CA438368440 | WFS1 | c.1320C>A (p.Pro440=) c.1261C>A c.1284C>A (p.Pro428=) c.1035C>A (p.Pro345=) c.943C>A (p.Leu315Met) n.1469C>A c.1293C>A (p.Pro431=) |