| 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.6301126_6301132delinsACCTGAG | CA1435772737 | WFS1 | c.1367_1373delinsACCTGAG (p.Tyr456=) c.1308_1314delinsACCTGAG c.1331_1337delinsACCTGAG (p.Tyr444=) c.1082_1088delinsACCTGAG (p.Tyr361=) c.990_996delinsACCTGAG (p.Leu330=) n.1516_1522delinsACCTGAG c.1340_1346delinsACCTGAG (p.Tyr447=) | |
| 4 | g.6301134_6301139del | CA2839312 | WFS1 | c.1375_1380del (p.Leu459_Ser460del) c.1316_1321del c.1339_1344del (p.Leu447_Ser448del) c.1090_1095del (p.Leu364_Ser365del) c.998_1003del (p.Pro333_Glu334del) n.1524_1529del c.1348_1353del (p.Leu450_Ser451del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301129_6301164dup | CA2669843425 | WFS1 | c.1370_1405dup (p.Arg468_Arg469insMetSerLeuSerThrHisAlaGluProTyrThrArg) c.1311_1346dup c.1334_1369dup (p.Arg456_Arg457insMetSerLeuSerThrHisAlaGluProTyrThrArg) c.1085_1120dup (p.Arg373_Arg374insMetSerLeuSerThrHisAlaGluProTyrThrArg) c.993_1028dup (p.Ala342_Gln343insHisGluProGluHisProCysArgAlaLeuHisAla) n.1519_1554dup c.1343_1378dup (p.Arg459_Arg460insMetSerLeuSerThrHisAlaGluProTyrThrArg) | gnomAD v4 |
| 4 | g.6301131A>C | CA356174702 | WFS1 | c.1372A>C (p.Ser458Arg) c.1313A>C c.1336A>C (p.Ser446Arg) c.1087A>C (p.Ser363Arg) c.995A>C (p.Glu332Ala) n.1521A>C c.1345A>C (p.Ser449Arg) | |
| 4 | g.6301131A>G | CA356174703 | WFS1 | c.1372A>G (p.Ser458Gly) c.1313A>G c.1336A>G (p.Ser446Gly) c.1087A>G (p.Ser363Gly) c.995A>G (p.Glu332Gly) n.1521A>G c.1345A>G (p.Ser449Gly) | |
| 4 | g.6301131A>T | CA356174704 | WFS1 | c.1372A>T (p.Ser458Cys) c.1313A>T c.1336A>T (p.Ser446Cys) c.1087A>T (p.Ser363Cys) c.995A>T (p.Glu332Val) n.1521A>T c.1345A>T (p.Ser449Cys) | |
| 4 | g.6301131_6301132insTACG | CA2669843426 | WFS1 | c.1372_1373insTACG (p.Ser458IlefsTer?) c.1313_1314insTACG c.1336_1337insTACG (p.Ser446IlefsTer?) c.1087_1088insTACG (p.Ser363IlefsTer?) c.995_996insTACG (p.Glu332AspfsTer4) n.1521_1522insTACG c.1345_1346insTACG (p.Ser449IlefsTer?) | gnomAD v4 |
| 4 | g.6301132G>A | CA356174705 | WFS1 | c.1373G>A (p.Ser458Asn) c.1314G>A c.1337G>A (p.Ser446Asn) c.1088G>A (p.Ser363Asn) c.996G>A (p.Glu332=) n.1522G>A c.1346G>A (p.Ser449Asn) | |
| 4 | g.6301132G>C | CA356174706 | WFS1 | c.1373G>C (p.Ser458Thr) c.1314G>C c.1337G>C (p.Ser446Thr) c.1088G>C (p.Ser363Thr) c.996G>C (p.Glu332Asp) n.1522G>C c.1346G>C (p.Ser449Thr) | |
| 4 | g.6301132G>T | CA356174707 | WFS1 | c.1373G>T (p.Ser458Ile) c.1314G>T c.1337G>T (p.Ser446Ile) c.1088G>T (p.Ser363Ile) c.996G>T (p.Glu332Asp) n.1522G>T c.1346G>T (p.Ser449Ile) | |
| 4 | g.6301133C>A | CA356174708 | WFS1 | c.1374C>A (p.Ser458Arg) c.1315C>A c.1338C>A (p.Ser446Arg) c.1089C>A (p.Ser363Arg) c.997C>A (p.Pro333Thr) n.1523C>A c.1347C>A (p.Ser449Arg) | |
| 4 | g.6301133C= | CA1435772748 | WFS1 | c.1374C= (p.Ser458=) c.1315C= c.1338C= (p.Ser446=) c.1089C= (p.Ser363=) c.997C= (p.Pro333=) n.1523C= c.1347C= (p.Ser449=) | |
| 4 | g.6301133C>G | CA356174709 | WFS1 | c.1374C>G (p.Ser458Arg) c.1315C>G c.1338C>G (p.Ser446Arg) c.1089C>G (p.Ser363Arg) c.997C>G (p.Pro333Ala) n.1523C>G c.1347C>G (p.Ser449Arg) | ClinVar |
| 4 | g.6301133C>T | CA91796252 | WFS1 | c.1374C>T (p.Ser458=) c.1315C>T c.1338C>T (p.Ser446=) c.1089C>T (p.Ser363=) c.997C>T (p.Pro333Ser) n.1523C>T c.1347C>T (p.Ser449=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301134C>A | CA356174710 | WFS1 | c.1375C>A (p.Leu459Met) c.1316C>A c.1339C>A (p.Leu447Met) c.1090C>A (p.Leu364Met) c.998C>A (p.Pro333His) n.1524C>A c.1348C>A (p.Leu450Met) | gnomAD v4 |
| 4 | g.6301134C= | CA1435772750 | WFS1 | c.1375C= (p.Leu459=) c.1316C= c.1339C= (p.Leu447=) c.1090C= (p.Leu364=) c.998C= (p.Pro333=) n.1524C= c.1348C= (p.Leu450=) | |
| 4 | g.6301134C>G | CA356174711 | WFS1 | c.1375C>G (p.Leu459Val) c.1316C>G c.1339C>G (p.Leu447Val) c.1090C>G (p.Leu364Val) c.998C>G (p.Pro333Arg) n.1524C>G c.1348C>G (p.Leu450Val) | |
| 4 | g.6301134C>T | CA91796253 | WFS1 | c.1375C>T (p.Leu459=) c.1316C>T c.1339C>T (p.Leu447=) c.1090C>T (p.Leu364=) c.998C>T (p.Pro333Leu) n.1524C>T c.1348C>T (p.Leu450=) | dbSNP |
| 4 | g.6301134_6301135del | CA2669843427 | WFS1 | c.1375_1376del (p.Leu459GlufsTer?) c.1316_1317del c.1339_1340del (p.Leu447GlufsTer?) c.1090_1091del (p.Leu364GlufsTer?) c.998_999del (p.Pro333ArgfsTer30) n.1524_1525del c.1348_1349del (p.Leu450GlufsTer?) | gnomAD v4 |
| 4 | g.6301134_6301140delinsCTGAGCA | CA1435772752 | WFS1 | c.1375_1381delinsCTGAGCA (p.Leu459=) c.1316_1322delinsCTGAGCA c.1339_1345delinsCTGAGCA (p.Leu447=) c.1090_1096delinsCTGAGCA (p.Leu364=) c.998_1004delinsCTGAGCA (p.Pro333=) n.1524_1530delinsCTGAGCA c.1348_1354delinsCTGAGCA (p.Leu450=) | |
| 4 | g.6301135T>A | CA356174712 | WFS1 | c.1376T>A (p.Leu459Gln) c.1317T>A c.1340T>A (p.Leu447Gln) c.1091T>A (p.Leu364Gln) c.999T>A (p.Pro333=) n.1525T>A c.1349T>A (p.Leu450Gln) | |
| 4 | g.6301135T>C | CA356174713 | WFS1 | c.1376T>C (p.Leu459Pro) c.1317T>C c.1340T>C (p.Leu447Pro) c.1091T>C (p.Leu364Pro) c.999T>C (p.Pro333=) n.1525T>C c.1349T>C (p.Leu450Pro) | |
| 4 | g.6301135T>G | CA356174714 | WFS1 | c.1376T>G (p.Leu459Arg) c.1317T>G c.1340T>G (p.Leu447Arg) c.1091T>G (p.Leu364Arg) c.999T>G (p.Pro333=) n.1525T>G c.1349T>G (p.Leu450Arg) | |
| 4 | g.6301135_6301140del | CA917120713 | WFS1 | c.1376_1381del (p.Leu459_Thr461delinsPro) c.1317_1322del c.1340_1345del (p.Leu447_Thr449delinsPro) c.1091_1096del (p.Leu364_Thr366delinsPro) c.999_1004del (p.Glu334_His335del) n.1525_1530del c.1349_1354del (p.Leu450_Thr452delinsPro) | dbSNP gnomAD v4 |
| 4 | g.6301136G>A | CA438368569 | WFS1 | c.1377G>A (p.Leu459=) c.1318G>A c.1341G>A (p.Leu447=) c.1092G>A (p.Leu364=) c.1000G>A (p.Glu334Lys) n.1526G>A c.1350G>A (p.Leu450=) | gnomAD v4 |
| 4 | g.6301136G>C | CA438368574 | WFS1 | c.1377G>C (p.Leu459=) c.1318G>C c.1341G>C (p.Leu447=) c.1092G>C (p.Leu364=) c.1000G>C (p.Glu334Gln) n.1526G>C c.1350G>C (p.Leu450=) | |
| 4 | g.6301136G>T | CA438368576 | WFS1 | c.1377G>T (p.Leu459=) c.1318G>T c.1341G>T (p.Leu447=) c.1092G>T (p.Leu364=) c.1000G>T (p.Glu334Ter) n.1526G>T c.1350G>T (p.Leu450=) | |
| 4 | g.6301137A= | CA1435772754 | WFS1 | c.1378A= (p.Ser460=) c.1319A= c.1342A= (p.Ser448=) c.1093A= (p.Ser365=) c.1001A= (p.Glu334=) n.1527A= c.1351A= (p.Ser451=) | |
| 4 | g.6301137A>C | CA356174715 | WFS1 | c.1378A>C (p.Ser460Arg) c.1319A>C c.1342A>C (p.Ser448Arg) c.1093A>C (p.Ser365Arg) c.1001A>C (p.Glu334Ala) n.1527A>C c.1351A>C (p.Ser451Arg) | gnomAD v4 |
| 4 | g.6301137A>G | CA2839315 | WFS1 | c.1378A>G (p.Ser460Gly) c.1319A>G c.1342A>G (p.Ser448Gly) c.1093A>G (p.Ser365Gly) c.1001A>G (p.Glu334Gly) n.1527A>G c.1351A>G (p.Ser451Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301137A>T | CA356174716 | WFS1 | c.1378A>T (p.Ser460Cys) c.1319A>T c.1342A>T (p.Ser448Cys) c.1093A>T (p.Ser365Cys) c.1001A>T (p.Glu334Val) n.1527A>T c.1351A>T (p.Ser451Cys) | |
| 4 | g.6301137dup | CA2669843428 | WFS1 | c.1378dup (p.Ser460LysfsTer?) c.1319dup c.1342dup (p.Ser448LysfsTer?) c.1093dup (p.Ser365LysfsTer?) c.1001dup (p.His335AlafsTer29) n.1527dup c.1351dup (p.Ser451LysfsTer?) | gnomAD v4 |
| 4 | g.6301138G>A | CA356174717 | WFS1 | c.1379G>A (p.Ser460Asn) c.1320G>A c.1343G>A (p.Ser448Asn) c.1094G>A (p.Ser365Asn) c.1002G>A (p.Glu334=) n.1528G>A c.1352G>A (p.Ser451Asn) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301138G>C | CA356174718 | WFS1 | c.1379G>C (p.Ser460Thr) c.1320G>C c.1343G>C (p.Ser448Thr) c.1094G>C (p.Ser365Thr) c.1002G>C (p.Glu334Asp) n.1528G>C c.1352G>C (p.Ser451Thr) | gnomAD v4 |
| 4 | g.6301138G>T | CA356174719 | WFS1 | c.1379G>T (p.Ser460Ile) c.1320G>T c.1343G>T (p.Ser448Ile) c.1094G>T (p.Ser365Ile) c.1002G>T (p.Glu334Asp) n.1528G>T c.1352G>T (p.Ser451Ile) | |
| 4 | g.6301139C>A | CA356174720 | WFS1 | c.1380C>A (p.Ser460Arg) c.1321C>A c.1344C>A (p.Ser448Arg) c.1095C>A (p.Ser365Arg) c.1003C>A (p.His335Asn) n.1529C>A c.1353C>A (p.Ser451Arg) | |
| 4 | g.6301139C= | CA1435772756 | WFS1 | c.1380C= (p.Ser460=) c.1321C= c.1344C= (p.Ser448=) c.1095C= (p.Ser365=) c.1003C= (p.His335=) n.1529C= c.1353C= (p.Ser451=) | |
| 4 | g.6301139C>G | CA356174721 | WFS1 | c.1380C>G (p.Ser460Arg) c.1321C>G c.1344C>G (p.Ser448Arg) c.1095C>G (p.Ser365Arg) c.1003C>G (p.His335Asp) n.1529C>G c.1353C>G (p.Ser451Arg) | |
| 4 | g.6301139C>T | CA438368581 | WFS1 | c.1380C>T (p.Ser460=) c.1321C>T c.1344C>T (p.Ser448=) c.1095C>T (p.Ser365=) c.1003C>T (p.His335Tyr) n.1529C>T c.1353C>T (p.Ser451=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301140A>C | CA356174722 | WFS1 | c.1381A>C (p.Thr461Pro) c.1322A>C c.1345A>C (p.Thr449Pro) c.1096A>C (p.Thr366Pro) c.1004A>C (p.His335Pro) n.1530A>C c.1354A>C (p.Thr452Pro) | gnomAD v4 |
| 4 | g.6301140A>G | CA356174723 | WFS1 | c.1381A>G (p.Thr461Ala) c.1322A>G c.1345A>G (p.Thr449Ala) c.1096A>G (p.Thr366Ala) c.1004A>G (p.His335Arg) n.1530A>G c.1354A>G (p.Thr452Ala) | gnomAD v4 |
| 4 | g.6301140A>T | CA356174724 | WFS1 | c.1381A>T (p.Thr461Ser) c.1322A>T c.1345A>T (p.Thr449Ser) c.1096A>T (p.Thr366Ser) c.1004A>T (p.His335Leu) n.1530A>T c.1354A>T (p.Thr452Ser) | gnomAD v4 |
| 4 | g.6301140_6301141insAA | CA2760285015 | WFS1 | c.1381_1382insAA (p.Thr461LysfsTer29) c.1322_1323insAA c.1345_1346insAA (p.Thr449LysfsTer29) c.1096_1097insAA (p.Thr366LysfsTer29) c.1004_1005insAA (p.His335GlnfsTer?) n.1530_1531insAA c.1354_1355insAA (p.Thr452LysfsTer29) | |
| 4 | g.6301141C>A | CA356174725 | WFS1 | c.1382C>A (p.Thr461Asn) c.1323C>A c.1346C>A (p.Thr449Asn) c.1097C>A (p.Thr366Asn) c.1005C>A (p.His335Gln) n.1531C>A c.1355C>A (p.Thr452Asn) | |
| 4 | g.6301141C= | CA1435772757 | WFS1 | c.1382C= (p.Thr461=) c.1323C= c.1346C= (p.Thr449=) c.1097C= (p.Thr366=) c.1005C= (p.His335=) n.1531C= c.1355C= (p.Thr452=) | |
| 4 | g.6301141C>G | CA2839317 | WFS1 | c.1382C>G (p.Thr461Ser) c.1323C>G c.1346C>G (p.Thr449Ser) c.1097C>G (p.Thr366Ser) c.1005C>G (p.His335Gln) n.1531C>G c.1355C>G (p.Thr452Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301141C>T | CA2839316 | WFS1 | c.1382C>T (p.Thr461Ile) c.1323C>T c.1346C>T (p.Thr449Ile) c.1097C>T (p.Thr366Ile) c.1005C>T (p.His335=) n.1531C>T c.1355C>T (p.Thr452Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6301143dup | CA2586973616 | WFS1 | c.1384dup (p.His462ProfsTer?) c.1325dup c.1348dup (p.His450ProfsTer?) c.1099dup (p.His367ProfsTer?) c.1007dup (p.Cys337MetfsTer27) n.1533dup c.1357dup (p.His453ProfsTer?) | |
| 4 | g.6301142C>A | CA438368584 | WFS1 | c.1383C>A (p.Thr461=) c.1324C>A c.1347C>A (p.Thr449=) c.1098C>A (p.Thr366=) c.1006C>A (p.Pro336Thr) n.1532C>A c.1356C>A (p.Thr452=) | |
| 4 | g.6301142C>G | CA438368585 | WFS1 | c.1383C>G (p.Thr461=) c.1324C>G c.1347C>G (p.Thr449=) c.1098C>G (p.Thr366=) c.1006C>G (p.Pro336Ala) n.1532C>G c.1356C>G (p.Thr452=) | gnomAD v4 |
| 4 | g.6301142C>T | CA438368586 | WFS1 | c.1383C>T (p.Thr461=) c.1324C>T c.1347C>T (p.Thr449=) c.1098C>T (p.Thr366=) c.1006C>T (p.Pro336Ser) n.1532C>T c.1356C>T (p.Thr452=) | ClinVar dbSNP |
| 4 | g.6301142_6301143insAAACACACCCAACA | CA2760285017 | WFS1 | c.1383_1384insAAACACACCCAACA (p.His462LysfsTer32) c.1324_1325insAAACACACCCAACA c.1347_1348insAAACACACCCAACA (p.His450LysfsTer32) c.1098_1099insAAACACACCCAACA (p.His367LysfsTer32) c.1006_1007insAAACACACCCAACA (p.Pro336GlnfsTer?) n.1532_1533insAAACACACCCAACA c.1356_1357insAAACACACCCAACA (p.His453LysfsTer32) | |
| 4 | g.6301143C>A | CA356174727 | WFS1 | c.1384C>A (p.His462Asn) c.1325C>A c.1348C>A (p.His450Asn) c.1099C>A (p.His367Asn) c.1007C>A (p.Pro336Gln) n.1533C>A c.1357C>A (p.His453Asn) | |
| 4 | g.6301143C= | CA1435772759 | WFS1 | c.1384C= (p.His462=) c.1325C= c.1348C= (p.His450=) c.1099C= (p.His367=) c.1007C= (p.Pro336=) n.1533C= c.1357C= (p.His453=) | |
| 4 | g.6301143C>G | CA356174728 | WFS1 | c.1384C>G (p.His462Asp) c.1325C>G c.1348C>G (p.His450Asp) c.1099C>G (p.His367Asp) c.1007C>G (p.Pro336Arg) n.1533C>G c.1357C>G (p.His453Asp) | |
| 4 | g.6301143C>T | CA356174726 | WFS1 | c.1384C>T (p.His462Tyr) c.1325C>T c.1348C>T (p.His450Tyr) c.1099C>T (p.His367Tyr) c.1007C>T (p.Pro336Leu) n.1533C>T c.1357C>T (p.His453Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301144_6301145insAACCAAACACACCCAACACA | CA2760285018 | WFS1 | c.1385_1386insAACCAAACACACCCAACACA (p.His462GlnfsTer34) c.1326_1327insAACCAAACACACCCAACACA c.1349_1350insAACCAAACACACCCAACACA (p.His450GlnfsTer34) c.1100_1101insAACCAAACACACCCAACACA (p.His367GlnfsTer34) c.1008_1009insAACCAAACACACCCAACACA (p.Cys337AsnfsTer?) n.1534_1535insAACCAAACACACCCAACACA c.1358_1359insAACCAAACACACCCAACACA (p.His453GlnfsTer34) | |
| 4 | g.6301143_6301145delinsTAG | CA2586973617 | WFS1 | c.1384_1386delinsTAG (p.His462Ter) c.1325_1327delinsTAG c.1348_1350delinsTAG (p.His450Ter) c.1099_1101delinsTAG (p.His367Ter) c.1007_1009delinsTAG (p.Pro336_Cys337delinsLeuGly) n.1533_1535delinsTAG c.1357_1359delinsTAG (p.His453Ter) | |
| 4 | g.6301143_6301148del | CA2669843429 | WFS1 | c.1384_1389del (p.His462_Ala463del) c.1325_1330del c.1348_1353del (p.His450_Ala451del) c.1099_1104del (p.His367_Ala368del) c.1007_1012del (p.Pro336_Cys337del) n.1533_1538del c.1357_1362del (p.His453_Ala454del) | gnomAD v4 |
| 4 | g.6301144A= | CA1435772761 | WFS1 | c.1385A= (p.His462=) c.1326A= c.1349A= (p.His450=) c.1100A= (p.His367=) c.1008A= (p.Pro336=) n.1534A= c.1358A= (p.His453=) | |
| 4 | g.6301144A>C | CA356174730 | WFS1 | c.1385A>C (p.His462Pro) c.1326A>C c.1349A>C (p.His450Pro) c.1100A>C (p.His367Pro) c.1008A>C (p.Pro336=) n.1534A>C c.1358A>C (p.His453Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301144A>G | CA356174729 | WFS1 | c.1385A>G (p.His462Arg) c.1326A>G c.1349A>G (p.His450Arg) c.1100A>G (p.His367Arg) c.1008A>G (p.Pro336=) n.1534A>G c.1358A>G (p.His453Arg) | gnomAD v4 |
| 4 | g.6301144A>T | CA356174731 | WFS1 | c.1385A>T (p.His462Leu) c.1326A>T c.1349A>T (p.His450Leu) c.1100A>T (p.His367Leu) c.1008A>T (p.Pro336=) n.1534A>T c.1358A>T (p.His453Leu) | |
| 4 | g.6301145del | CA2669843430 | WFS1 | c.1386del (p.His462GlnfsTer27) c.1327del c.1350del (p.His450GlnfsTer27) c.1101del (p.His367GlnfsTer27) c.1009del (p.Cys337AlafsTer?) n.1535del c.1359del (p.His453GlnfsTer27) | gnomAD v4 |
| 4 | g.6301145T>A | CA356174732 | WFS1 | c.1386T>A (p.His462Gln) c.1327T>A c.1350T>A (p.His450Gln) c.1101T>A (p.His367Gln) c.1009T>A (p.Cys337Ser) n.1535T>A c.1359T>A (p.His453Gln) | |
| 4 | g.6301145T>C | CA16604717 | WFS1 | c.1386T>C (p.His462=) c.1327T>C c.1350T>C (p.His450=) c.1101T>C (p.His367=) c.1009T>C (p.Cys337Arg) n.1535T>C c.1359T>C (p.His453=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301145T>G | CA356174733 | WFS1 | c.1386T>G (p.His462Gln) c.1327T>G c.1350T>G (p.His450Gln) c.1101T>G (p.His367Gln) c.1009T>G (p.Cys337Gly) n.1535T>G c.1359T>G (p.His453Gln) | |
| 4 | g.6301145T= | CA1435772763 | WFS1 | c.1386T= (p.His462=) c.1327T= c.1350T= (p.His450=) c.1101T= (p.His367=) c.1009T= (p.Cys337=) n.1535T= c.1359T= (p.His453=) | |
| 4 | g.6301145_6301151delinsGCA | CA2586973618 | WFS1 | c.1386_1392delinsGCA (p.His462GlnfsTer26) c.1327_1333delinsGCA c.1350_1356delinsGCA (p.His450GlnfsTer26) c.1101_1107delinsGCA (p.His367GlnfsTer26) c.1009_1015delinsGCA (p.Cys337AlafsTer?) n.1535_1541delinsGCA c.1359_1365delinsGCA (p.His453GlnfsTer26) | |
| 4 | g.6301145_6301161delinsTGCAGAGCCCTACACGC | CA1435772765 | WFS1 | c.1386_1402delinsTGCAGAGCCCTACACGC (p.His462=) c.1327_1343delinsTGCAGAGCCCTACACGC c.1350_1366delinsTGCAGAGCCCTACACGC (p.His450=) c.1101_1117delinsTGCAGAGCCCTACACGC (p.His367=) c.1009_1025delinsTGCAGAGCCCTACACGC (p.Cys337=) n.1535_1551delinsTGCAGAGCCCTACACGC c.1359_1375delinsTGCAGAGCCCTACACGC (p.His453=) | |
| 4 | g.6301146G>A | CA356174734 | WFS1 | c.1387G>A (p.Ala463Thr) c.1328G>A c.1351G>A (p.Ala451Thr) c.1102G>A (p.Ala368Thr) c.1010G>A (p.Cys337Tyr) n.1536G>A c.1360G>A (p.Ala454Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301146G>C | CA356174735 | WFS1 | c.1387G>C (p.Ala463Pro) c.1328G>C c.1351G>C (p.Ala451Pro) c.1102G>C (p.Ala368Pro) c.1010G>C (p.Cys337Ser) n.1536G>C c.1360G>C (p.Ala454Pro) | |
| 4 | g.6301146G= | CA1435772767 | WFS1 | c.1387G= (p.Ala463=) c.1328G= c.1351G= (p.Ala451=) c.1102G= (p.Ala368=) c.1010G= (p.Cys337=) n.1536G= c.1360G= (p.Ala454=) | |
| 4 | g.6301146G>T | CA356174736 | WFS1 | c.1387G>T (p.Ala463Ser) c.1328G>T c.1351G>T (p.Ala451Ser) c.1102G>T (p.Ala368Ser) c.1010G>T (p.Cys337Phe) n.1536G>T c.1360G>T (p.Ala454Ser) | dbSNP gnomAD v4 |
| 4 | g.6301150_6301165dup | CA2586973619 | WFS1 | c.1391_1406dup (p.Ala472HisfsTer?) c.1332_1347dup c.1355_1370dup (p.Ala460HisfsTer?) c.1106_1121dup (p.Ala377HisfsTer?) c.1014_1029dup (p.Gly344SerfsTer25) n.1540_1555dup c.1364_1379dup (p.Ala463HisfsTer?) | |
| 4 | g.6301150_6301165del | CA797207318 | WFS1 | c.1391_1406del (p.Glu464GlyfsTer20) c.1332_1347del c.1355_1370del (p.Glu452GlyfsTer20) c.1106_1121del (p.Glu369GlyfsTer20) c.1014_1029del (p.His341AlafsTer?) n.1540_1555del c.1364_1379del (p.Glu455GlyfsTer20) | dbSNP gnomAD v4 |
| 4 | g.6301147C>A | CA356174737 | WFS1 | c.1388C>A (p.Ala463Glu) c.1329C>A c.1352C>A (p.Ala451Glu) c.1103C>A (p.Ala368Glu) c.1011C>A (p.Cys337Ter) n.1537C>A c.1361C>A (p.Ala454Glu) | |
| 4 | g.6301147C>G | CA356174738 | WFS1 | c.1388C>G (p.Ala463Gly) c.1329C>G c.1352C>G (p.Ala451Gly) c.1103C>G (p.Ala368Gly) c.1011C>G (p.Cys337Trp) n.1537C>G c.1361C>G (p.Ala454Gly) | gnomAD v4 |
| 4 | g.6301147C>T | CA356174739 | WFS1 | c.1388C>T (p.Ala463Val) c.1329C>T c.1352C>T (p.Ala451Val) c.1103C>T (p.Ala368Val) c.1011C>T (p.Cys337=) n.1537C>T c.1361C>T (p.Ala454Val) | gnomAD v4 |
| 4 | g.6301148A= | CA1435772769 | WFS1 | c.1389A= (p.Ala463=) c.1330A= c.1353A= (p.Ala451=) c.1104A= (p.Ala368=) c.1012A= (p.Arg338=) n.1538A= c.1362A= (p.Ala454=) | |
| 4 | g.6301148A>C | CA438368590 | WFS1 | c.1389A>C (p.Ala463=) c.1330A>C c.1353A>C (p.Ala451=) c.1104A>C (p.Ala368=) c.1012A>C (p.Arg338=) n.1538A>C c.1362A>C (p.Ala454=) | |
| 4 | g.6301148A>G | CA2839318 | WFS1 | c.1389A>G (p.Ala463=) c.1330A>G c.1353A>G (p.Ala451=) c.1104A>G (p.Ala368=) c.1012A>G (p.Arg338Gly) n.1538A>G c.1362A>G (p.Ala454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301148A>T | CA438368592 | WFS1 | c.1389A>T (p.Ala463=) c.1330A>T c.1353A>T (p.Ala451=) c.1104A>T (p.Ala368=) c.1012A>T (p.Arg338Ter) n.1538A>T c.1362A>T (p.Ala454=) | |
| 4 | g.6301149G>A | CA91796254 | WFS1 | c.1390G>A (p.Glu464Lys) c.1331G>A c.1354G>A (p.Glu452Lys) c.1105G>A (p.Glu369Lys) c.1013G>A (p.Arg338Lys) n.1539G>A c.1363G>A (p.Glu455Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301149G>C | CA356174740 | WFS1 | c.1390G>C (p.Glu464Gln) c.1331G>C c.1354G>C (p.Glu452Gln) c.1105G>C (p.Glu369Gln) c.1013G>C (p.Arg338Thr) n.1539G>C c.1363G>C (p.Glu455Gln) | |
| 4 | g.6301149G= | CA1435772771 | WFS1 | c.1390G= (p.Glu464=) c.1331G= c.1354G= (p.Glu452=) c.1105G= (p.Glu369=) c.1013G= (p.Arg338=) n.1539G= c.1363G= (p.Glu455=) | |
| 4 | g.6301149G>T | CA356174741 | WFS1 | c.1390G>T (p.Glu464Ter) c.1331G>T c.1354G>T (p.Glu452Ter) c.1105G>T (p.Glu369Ter) c.1013G>T (p.Arg338Ile) n.1539G>T c.1363G>T (p.Glu455Ter) | |
| 4 | g.6301149_6301151del | CA2669843431 | WFS1 | c.1390_1392del (p.Glu464del) c.1331_1333del c.1354_1356del (p.Glu452del) c.1105_1107del (p.Glu369del) c.1013_1015del (p.Arg338_Ala339delinsThr) n.1539_1541del c.1363_1365del (p.Glu455del) | gnomAD v4 |
| 4 | g.6301150A= | CA1435772773 | WFS1 | c.1391A= (p.Glu464=) c.1332A= c.1355A= (p.Glu452=) c.1106A= (p.Glu369=) c.1014A= (p.Arg338=) n.1540A= c.1364A= (p.Glu455=) | |
| 4 | g.6301150A>C | CA356174742 | WFS1 | c.1391A>C (p.Glu464Ala) c.1332A>C c.1355A>C (p.Glu452Ala) c.1106A>C (p.Glu369Ala) c.1014A>C (p.Arg338Ser) n.1540A>C c.1364A>C (p.Glu455Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301150A>G | CA356174743 | WFS1 | c.1391A>G (p.Glu464Gly) c.1332A>G c.1355A>G (p.Glu452Gly) c.1106A>G (p.Glu369Gly) c.1014A>G (p.Arg338=) n.1540A>G c.1364A>G (p.Glu455Gly) | |
| 4 | g.6301150A>T | CA356174744 | WFS1 | c.1391A>T (p.Glu464Val) c.1332A>T c.1355A>T (p.Glu452Val) c.1106A>T (p.Glu369Val) c.1014A>T (p.Arg338Ser) n.1540A>T c.1364A>T (p.Glu455Val) | |
| 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.6301151G>A | CA438368595 | WFS1 | c.1392G>A (p.Glu464=) c.1333G>A c.1356G>A (p.Glu452=) c.1107G>A (p.Glu369=) c.1015G>A (p.Ala339Thr) n.1541G>A c.1365G>A (p.Glu455=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301151G>C | CA356174746 | WFS1 | c.1392G>C (p.Glu464Asp) c.1333G>C c.1356G>C (p.Glu452Asp) c.1107G>C (p.Glu369Asp) c.1015G>C (p.Ala339Pro) n.1541G>C c.1365G>C (p.Glu455Asp) | |
| 4 | g.6301151G= | CA1435772777 | WFS1 | c.1392G= (p.Glu464=) c.1333G= c.1356G= (p.Glu452=) c.1107G= (p.Glu369=) c.1015G= (p.Ala339=) n.1541G= c.1365G= (p.Glu455=) | |
| 4 | g.6301151G>T | CA356174745 | WFS1 | c.1392G>T (p.Glu464Asp) c.1333G>T c.1356G>T (p.Glu452Asp) c.1107G>T (p.Glu369Asp) c.1015G>T (p.Ala339Ser) n.1541G>T c.1365G>T (p.Glu455Asp) | |
| 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.6301152C>A | CA356174747 | WFS1 | c.1393C>A (p.Pro465Thr) c.1334C>A c.1357C>A (p.Pro453Thr) c.1108C>A (p.Pro370Thr) c.1016C>A (p.Ala339Asp) n.1542C>A c.1366C>A (p.Pro456Thr) | gnomAD v4 |
| 4 | g.6301152C= | CA1435772779 | WFS1 | c.1393C= (p.Pro465=) c.1334C= c.1357C= (p.Pro453=) c.1108C= (p.Pro370=) c.1016C= (p.Ala339=) n.1542C= c.1366C= (p.Pro456=) | |
| 4 | g.6301152C>G | CA356174748 | WFS1 | c.1393C>G (p.Pro465Ala) c.1334C>G c.1357C>G (p.Pro453Ala) c.1108C>G (p.Pro370Ala) c.1016C>G (p.Ala339Gly) n.1542C>G c.1366C>G (p.Pro456Ala) | dbSNP gnomAD v4 |
| 4 | g.6301152C>T | CA356174749 | WFS1 | c.1393C>T (p.Pro465Ser) c.1334C>T c.1357C>T (p.Pro453Ser) c.1108C>T (p.Pro370Ser) c.1016C>T (p.Ala339Val) n.1542C>T c.1366C>T (p.Pro456Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301154del | CA2586973620 | WFS1 | c.1395del (p.Tyr466ThrfsTer23) c.1336del c.1359del (p.Tyr454ThrfsTer23) c.1110del (p.Tyr371ThrfsTer23) c.1018del (p.Leu340TyrfsTer?) n.1544del c.1368del (p.Tyr457ThrfsTer23) | gnomAD v4 |
| 4 | g.6301153C>A | CA356174750 | WFS1 | c.1394C>A (p.Pro465His) c.1335C>A c.1358C>A (p.Pro453His) c.1109C>A (p.Pro370His) c.1017C>A (p.Ala339=) n.1543C>A c.1367C>A (p.Pro456His) | gnomAD v4 |
| 4 | g.6301153C>G | CA356174751 | WFS1 | c.1394C>G (p.Pro465Arg) c.1335C>G c.1358C>G (p.Pro453Arg) c.1109C>G (p.Pro370Arg) c.1017C>G (p.Ala339=) n.1543C>G c.1367C>G (p.Pro456Arg) | |
| 4 | g.6301153C>T | CA356174752 | WFS1 | c.1394C>T (p.Pro465Leu) c.1335C>T c.1358C>T (p.Pro453Leu) c.1109C>T (p.Pro370Leu) c.1017C>T (p.Ala339=) n.1543C>T c.1367C>T (p.Pro456Leu) | gnomAD v4 |
| 4 | g.6301154C>A | CA438368599 | WFS1 | c.1395C>A (p.Pro465=) c.1336C>A c.1359C>A (p.Pro453=) c.1110C>A (p.Pro370=) c.1018C>A (p.Leu340Ile) n.1544C>A c.1368C>A (p.Pro456=) | |
| 4 | g.6301154C= | CA1435772780 | WFS1 | c.1395C= (p.Pro465=) c.1336C= c.1359C= (p.Pro453=) c.1110C= (p.Pro370=) c.1018C= (p.Leu340=) n.1544C= c.1368C= (p.Pro456=) | |
| 4 | g.6301154C>G | CA438368601 | WFS1 | c.1395C>G (p.Pro465=) c.1336C>G c.1359C>G (p.Pro453=) c.1110C>G (p.Pro370=) c.1018C>G (p.Leu340Val) n.1544C>G c.1368C>G (p.Pro456=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301154C>T | CA2839319 | WFS1 | c.1395C>T (p.Pro465=) c.1336C>T c.1359C>T (p.Pro453=) c.1110C>T (p.Pro370=) c.1018C>T (p.Leu340=) n.1544C>T c.1368C>T (p.Pro456=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301155T>A | CA356174753 | WFS1 | c.1396T>A (p.Tyr466Asn) c.1337T>A c.1360T>A (p.Tyr454Asn) c.1111T>A (p.Tyr371Asn) c.1019T>A (p.Leu340Gln) n.1545T>A c.1369T>A (p.Tyr457Asn) | |
| 4 | g.6301155T>C | CA356174754 | WFS1 | c.1396T>C (p.Tyr466His) c.1337T>C c.1360T>C (p.Tyr454His) c.1111T>C (p.Tyr371His) c.1019T>C (p.Leu340Pro) n.1545T>C c.1369T>C (p.Tyr457His) | |
| 4 | g.6301155T>G | CA356174755 | WFS1 | c.1396T>G (p.Tyr466Asp) c.1337T>G c.1360T>G (p.Tyr454Asp) c.1111T>G (p.Tyr371Asp) c.1019T>G (p.Leu340Arg) n.1545T>G c.1369T>G (p.Tyr457Asp) | |
| 4 | g.6301156A>C | CA356174756 | WFS1 | c.1397A>C (p.Tyr466Ser) c.1338A>C c.1361A>C (p.Tyr454Ser) c.1112A>C (p.Tyr371Ser) c.1020A>C (p.Leu340=) n.1546A>C c.1370A>C (p.Tyr457Ser) | |
| 4 | g.6301156A>G | CA356174757 | WFS1 | c.1397A>G (p.Tyr466Cys) c.1338A>G c.1361A>G (p.Tyr454Cys) c.1112A>G (p.Tyr371Cys) c.1020A>G (p.Leu340=) n.1546A>G c.1370A>G (p.Tyr457Cys) | |
| 4 | g.6301156A>T | CA356174758 | WFS1 | c.1397A>T (p.Tyr466Phe) c.1338A>T c.1361A>T (p.Tyr454Phe) c.1112A>T (p.Tyr371Phe) c.1020A>T (p.Leu340=) n.1546A>T c.1370A>T (p.Tyr457Phe) | |
| 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.6301157C>A | CA356174759 | WFS1 | c.1398C>A (p.Tyr466Ter) c.1339C>A c.1362C>A (p.Tyr454Ter) c.1113C>A (p.Tyr371Ter) c.1021C>A (p.His341Asn) n.1547C>A c.1371C>A (p.Tyr457Ter) | |
| 4 | g.6301157C= | CA1435772785 | WFS1 | c.1398C= (p.Tyr466=) c.1339C= c.1362C= (p.Tyr454=) c.1113C= (p.Tyr371=) c.1021C= (p.His341=) n.1547C= c.1371C= (p.Tyr457=) | |
| 4 | g.6301157C>G | CA356174760 | WFS1 | c.1398C>G (p.Tyr466Ter) c.1339C>G c.1362C>G (p.Tyr454Ter) c.1113C>G (p.Tyr371Ter) c.1021C>G (p.His341Asp) n.1547C>G c.1371C>G (p.Tyr457Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301157C>T | CA91796255 | WFS1 | c.1398C>T (p.Tyr466=) c.1339C>T c.1362C>T (p.Tyr454=) c.1113C>T (p.Tyr371=) c.1021C>T (p.His341Tyr) n.1547C>T c.1371C>T (p.Tyr457=) | ClinVar dbSNP gnomAD v4 |
| 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.6301158A= | CA1435772788 | WFS1 | c.1399A= (p.Thr467=) c.1340A= c.1363A= (p.Thr455=) c.1114A= (p.Thr372=) c.1022A= (p.His341=) n.1548A= c.1372A= (p.Thr458=) | |
| 4 | g.6301158A>C | CA356174761 | WFS1 | c.1399A>C (p.Thr467Pro) c.1340A>C c.1363A>C (p.Thr455Pro) c.1114A>C (p.Thr372Pro) c.1022A>C (p.His341Pro) n.1548A>C c.1372A>C (p.Thr458Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301158A>G | CA356174762 | WFS1 | c.1399A>G (p.Thr467Ala) c.1340A>G c.1363A>G (p.Thr455Ala) c.1114A>G (p.Thr372Ala) c.1022A>G (p.His341Arg) n.1548A>G c.1372A>G (p.Thr458Ala) | |
| 4 | g.6301158A>T | CA356174763 | WFS1 | c.1399A>T (p.Thr467Ser) c.1340A>T c.1363A>T (p.Thr455Ser) c.1114A>T (p.Thr372Ser) c.1022A>T (p.His341Leu) n.1548A>T c.1372A>T (p.Thr458Ser) | |
| 4 | g.6301159C>A | CA356174764 | WFS1 | c.1400C>A (p.Thr467Lys) c.1341C>A c.1364C>A (p.Thr455Lys) c.1115C>A (p.Thr372Lys) c.1023C>A (p.His341Gln) n.1549C>A c.1373C>A (p.Thr458Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301159C= | CA1435772789 | WFS1 | c.1400C= (p.Thr467=) c.1341C= c.1364C= (p.Thr455=) c.1115C= (p.Thr372=) c.1023C= (p.His341=) n.1549C= c.1373C= (p.Thr458=) | |
| 4 | g.6301159C>G | CA356174765 | WFS1 | c.1400C>G (p.Thr467Arg) c.1341C>G c.1364C>G (p.Thr455Arg) c.1115C>G (p.Thr372Arg) c.1023C>G (p.His341Gln) n.1549C>G c.1373C>G (p.Thr458Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301159C>T | CA2839320 | WFS1 | c.1400C>T (p.Thr467Met) c.1341C>T c.1364C>T (p.Thr455Met) c.1115C>T (p.Thr372Met) c.1023C>T (p.His341=) n.1549C>T c.1373C>T (p.Thr458Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301160G>A | CA2839321 | WFS1 | c.1401G>A (p.Thr467=) c.1342G>A c.1365G>A (p.Thr455=) c.1116G>A (p.Thr372=) c.1024G>A (p.Ala342Thr) n.1550G>A c.1374G>A (p.Thr458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301160G>C | CA2839322 | WFS1 | c.1401G>C (p.Thr467=) c.1342G>C c.1365G>C (p.Thr455=) c.1116G>C (p.Thr372=) c.1024G>C (p.Ala342Pro) n.1550G>C c.1374G>C (p.Thr458=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301160G= | CA1435772793 | WFS1 | c.1401G= (p.Thr467=) c.1342G= c.1365G= (p.Thr455=) c.1116G= (p.Thr372=) c.1024G= (p.Ala342=) n.1550G= c.1374G= (p.Thr458=) | |
| 4 | g.6301160G>T | CA438368604 | WFS1 | c.1401G>T (p.Thr467=) c.1342G>T c.1365G>T (p.Thr455=) c.1116G>T (p.Thr372=) c.1024G>T (p.Ala342Ser) n.1550G>T c.1374G>T (p.Thr458=) | |
| 4 | g.6301161C>A | CA356174766 | WFS1 | c.1402C>A (p.Arg468Ser) c.1343C>A c.1366C>A (p.Arg456Ser) c.1117C>A (p.Arg373Ser) c.1025C>A (p.Ala342Glu) n.1551C>A c.1375C>A (p.Arg459Ser) | |
| 4 | g.6301161C= | CA1435772795 | WFS1 | c.1402C= (p.Arg468=) c.1343C= c.1366C= (p.Arg456=) c.1117C= (p.Arg373=) c.1025C= (p.Ala342=) n.1551C= c.1375C= (p.Arg459=) | |
| 4 | g.6301161C>G | CA356174767 | WFS1 | c.1402C>G (p.Arg468Gly) c.1343C>G c.1366C>G (p.Arg456Gly) c.1117C>G (p.Arg373Gly) c.1025C>G (p.Ala342Gly) n.1551C>G c.1375C>G (p.Arg459Gly) | |
| 4 | g.6301161C>T | CA2839323 | WFS1 | c.1402C>T (p.Arg468Cys) c.1343C>T c.1366C>T (p.Arg456Cys) c.1117C>T (p.Arg373Cys) c.1025C>T (p.Ala342Val) n.1551C>T c.1375C>T (p.Arg459Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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.6301162G>A | CA136332 | WFS1 | c.1403G>A (p.Arg468His) c.1344G>A c.1367G>A (p.Arg456His) c.1118G>A (p.Arg373His) c.1026G>A (p.Ala342=) n.1552G>A c.1376G>A (p.Arg459His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301162G>C | CA356174768 | WFS1 | c.1403G>C (p.Arg468Pro) c.1344G>C c.1367G>C (p.Arg456Pro) c.1118G>C (p.Arg373Pro) c.1026G>C (p.Ala342=) n.1552G>C c.1376G>C (p.Arg459Pro) | |
| 4 | g.6301162G= | CA1435772796 | WFS1 | c.1403G= (p.Arg468=) c.1344G= c.1367G= (p.Arg456=) c.1118G= (p.Arg373=) c.1026G= (p.Ala342=) n.1552G= c.1376G= (p.Arg459=) | |
| 4 | g.6301162G>T | CA356174769 | WFS1 | c.1403G>T (p.Arg468Leu) c.1344G>T c.1367G>T (p.Arg456Leu) c.1118G>T (p.Arg373Leu) c.1026G>T (p.Ala342=) n.1552G>T c.1376G>T (p.Arg459Leu) | ClinVar |
| 4 | g.6301163C>A | CA438368606 | WFS1 | c.1404C>A (p.Arg468=) c.1345C>A c.1368C>A (p.Arg456=) c.1119C>A (p.Arg373=) c.1027C>A (p.Gln343Lys) n.1553C>A c.1377C>A (p.Arg459=) | |
| 4 | g.6301163C= | CA1435772798 | WFS1 | c.1404C= (p.Arg468=) c.1345C= c.1368C= (p.Arg456=) c.1119C= (p.Arg373=) c.1027C= (p.Gln343=) n.1553C= c.1377C= (p.Arg459=) | |
| 4 | g.6301163C>G | CA438368607 | WFS1 | c.1404C>G (p.Arg468=) c.1345C>G c.1368C>G (p.Arg456=) c.1119C>G (p.Arg373=) c.1027C>G (p.Gln343Glu) n.1553C>G c.1377C>G (p.Arg459=) | |
| 4 | g.6301163C>T | CA438368608 | WFS1 | c.1404C>T (p.Arg468=) c.1345C>T c.1368C>T (p.Arg456=) c.1119C>T (p.Arg373=) c.1027C>T (p.Gln343Ter) n.1553C>T c.1377C>T (p.Arg459=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301164A= | CA1435772799 | WFS1 | c.1405A= (p.Arg469=) c.1346A= c.1369A= (p.Arg457=) c.1120A= (p.Arg374=) c.1028A= (p.Gln343=) n.1554A= c.1378A= (p.Arg460=) | |
| 4 | g.6301164A>C | CA438368609 | WFS1 | c.1405A>C (p.Arg469=) c.1346A>C c.1369A>C (p.Arg457=) c.1120A>C (p.Arg374=) c.1028A>C (p.Gln343Pro) n.1554A>C c.1378A>C (p.Arg460=) | |
| 4 | g.6301164A>G | CA91796256 | WFS1 | c.1405A>G (p.Arg469Gly) c.1346A>G c.1369A>G (p.Arg457Gly) c.1120A>G (p.Arg374Gly) c.1028A>G (p.Gln343Arg) n.1554A>G c.1378A>G (p.Arg460Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301164A>T | CA356174770 | WFS1 | c.1405A>T (p.Arg469Trp) c.1346A>T c.1369A>T (p.Arg457Trp) c.1120A>T (p.Arg374Trp) c.1028A>T (p.Gln343Leu) n.1554A>T c.1378A>T (p.Arg460Trp) | |
| 4 | g.6301165G>A | CA356174771 | WFS1 | c.1406G>A (p.Arg469Lys) c.1347G>A c.1370G>A (p.Arg457Lys) c.1121G>A (p.Arg374Lys) c.1029G>A (p.Gln343=) n.1555G>A c.1379G>A (p.Arg460Lys) | dbSNP gnomAD v4 |
| 4 | g.6301165G>C | CA356174772 | WFS1 | c.1406G>C (p.Arg469Thr) c.1347G>C c.1370G>C (p.Arg457Thr) c.1121G>C (p.Arg374Thr) c.1029G>C (p.Gln343His) n.1555G>C c.1379G>C (p.Arg460Thr) | ClinVar |
| 4 | g.6301165G= | CA1435772802 | WFS1 | c.1406G= (p.Arg469=) c.1347G= c.1370G= (p.Arg457=) c.1121G= (p.Arg374=) c.1029G= (p.Gln343=) n.1555G= c.1379G= (p.Arg460=) | |
| 4 | g.6301165G>T | CA356174773 | WFS1 | c.1406G>T (p.Arg469Met) c.1347G>T c.1370G>T (p.Arg457Met) c.1121G>T (p.Arg374Met) c.1029G>T (p.Gln343His) n.1555G>T c.1379G>T (p.Arg460Met) | |
| 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 |