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.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=) | |
4 | g.6301079C= | CA1435772666 | WFS1 | c.1320C= (p.Pro440=) c.1261C= c.1284C= (p.Pro428=) c.1035C= (p.Pro345=) c.943C= (p.Leu315=) n.1469C= c.1293C= (p.Pro431=) | |
4 | g.6301079C>G | CA438368441 | WFS1 | c.1320C>G (p.Pro440=) c.1261C>G c.1284C>G (p.Pro428=) c.1035C>G (p.Pro345=) c.943C>G (p.Leu315Val) n.1469C>G c.1293C>G (p.Pro431=) | |
4 | g.6301079C>T | CA438368444 | WFS1 | c.1320C>T (p.Pro440=) c.1261C>T c.1284C>T (p.Pro428=) c.1035C>T (p.Pro345=) c.943C>T (p.Leu315=) n.1469C>T c.1293C>T (p.Pro431=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301080T>A | CA356174606 | WFS1 | c.1321T>A (p.Cys441Ser) c.1262T>A c.1285T>A (p.Cys429Ser) c.1036T>A (p.Cys346Ser) c.944T>A (p.Leu315Gln) n.1470T>A c.1294T>A (p.Cys432Ser) | |
4 | g.6301080T>C | CA2839296 | WFS1 | c.1321T>C (p.Cys441Arg) c.1262T>C c.1285T>C (p.Cys429Arg) c.1036T>C (p.Cys346Arg) c.944T>C (p.Leu315Pro) n.1470T>C c.1294T>C (p.Cys432Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301080T>G | CA356174607 | WFS1 | c.1321T>G (p.Cys441Gly) c.1262T>G c.1285T>G (p.Cys429Gly) c.1036T>G (p.Cys346Gly) c.944T>G (p.Leu315Arg) n.1470T>G c.1294T>G (p.Cys432Gly) | |
4 | g.6301080T= | CA1435772668 | WFS1 | c.1321T= (p.Cys441=) c.1262T= c.1285T= (p.Cys429=) c.1036T= (p.Cys346=) c.944T= (p.Leu315=) n.1470T= c.1294T= (p.Cys432=) | |
4 | g.6301081G>A | CA356174608 | WFS1 | c.1322G>A (p.Cys441Tyr) c.1263G>A c.1286G>A (p.Cys429Tyr) c.1037G>A (p.Cys346Tyr) c.945G>A (p.Leu315=) n.1471G>A c.1295G>A (p.Cys432Tyr) | dbSNP gnomAD v2 |
4 | g.6301081G>C | CA356174609 | WFS1 | c.1322G>C (p.Cys441Ser) c.1263G>C c.1286G>C (p.Cys429Ser) c.1037G>C (p.Cys346Ser) c.945G>C (p.Leu315=) n.1471G>C c.1295G>C (p.Cys432Ser) | gnomAD v4 |
4 | g.6301081G= | CA1435772669 | WFS1 | c.1322G= (p.Cys441=) c.1263G= c.1286G= (p.Cys429=) c.1037G= (p.Cys346=) c.945G= (p.Leu315=) n.1471G= c.1295G= (p.Cys432=) | |
4 | g.6301081G>T | CA356174610 | WFS1 | c.1322G>T (p.Cys441Phe) c.1263G>T c.1286G>T (p.Cys429Phe) c.1037G>T (p.Cys346Phe) c.945G>T (p.Leu315=) n.1471G>T c.1295G>T (p.Cys432Phe) | |
4 | g.6301082C>A | CA356174611 | WFS1 | c.1323C>A (p.Cys441Ter) c.1264C>A c.1287C>A (p.Cys429Ter) c.1038C>A (p.Cys346Ter) c.946C>A (p.Leu316Ile) n.1472C>A c.1296C>A (p.Cys432Ter) | gnomAD v4 |
4 | g.6301082C= | CA1435772671 | WFS1 | c.1323C= (p.Cys441=) c.1264C= c.1287C= (p.Cys429=) c.1038C= (p.Cys346=) c.946C= (p.Leu316=) n.1472C= c.1296C= (p.Cys432=) | |
4 | g.6301082C>G | CA356174612 | WFS1 | c.1323C>G (p.Cys441Trp) c.1264C>G c.1287C>G (p.Cys429Trp) c.1038C>G (p.Cys346Trp) c.946C>G (p.Leu316Val) n.1472C>G c.1296C>G (p.Cys432Trp) | |
4 | g.6301082C>T | CA91796247 | WFS1 | c.1323C>T (p.Cys441=) c.1264C>T c.1287C>T (p.Cys429=) c.1038C>T (p.Cys346=) c.946C>T (p.Leu316Phe) n.1472C>T c.1296C>T (p.Cys432=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301083T>A | CA356174613 | WFS1 | c.1324T>A (p.Ser442Thr) c.1265T>A c.1288T>A (p.Ser430Thr) c.1039T>A (p.Ser347Thr) c.947T>A (p.Leu316His) n.1473T>A c.1297T>A (p.Ser433Thr) | |
4 | g.6301083T>C | CA356174614 | WFS1 | c.1324T>C (p.Ser442Pro) c.1265T>C c.1288T>C (p.Ser430Pro) c.1039T>C (p.Ser347Pro) c.947T>C (p.Leu316Pro) n.1473T>C c.1297T>C (p.Ser433Pro) | |
4 | g.6301083T>G | CA356174615 | WFS1 | c.1324T>G (p.Ser442Ala) c.1265T>G c.1288T>G (p.Ser430Ala) c.1039T>G (p.Ser347Ala) c.947T>G (p.Leu316Arg) n.1473T>G c.1297T>G (p.Ser433Ala) | |
4 | g.6301084C>A | CA356174616 | WFS1 | c.1325C>A (p.Ser442Ter) c.1266C>A c.1289C>A (p.Ser430Ter) c.1040C>A (p.Ser347Ter) c.948C>A (p.Leu316=) n.1474C>A c.1298C>A (p.Ser433Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301084C= | CA1435772673 | WFS1 | c.1325C= (p.Ser442=) c.1266C= c.1289C= (p.Ser430=) c.1040C= (p.Ser347=) c.948C= (p.Leu316=) n.1474C= c.1298C= (p.Ser433=) | |
4 | g.6301084C>G | CA356174617 | WFS1 | c.1325C>G (p.Ser442Trp) c.1266C>G c.1289C>G (p.Ser430Trp) c.1040C>G (p.Ser347Trp) c.948C>G (p.Leu316=) n.1474C>G c.1298C>G (p.Ser433Trp) | ClinVar dbSNP gnomAD v4 |
4 | g.6301084C>T | CA356174618 | WFS1 | c.1325C>T (p.Ser442Leu) c.1266C>T c.1289C>T (p.Ser430Leu) c.1040C>T (p.Ser347Leu) c.948C>T (p.Leu316=) n.1474C>T c.1298C>T (p.Ser433Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301085G>A | CA2839297 | WFS1 | c.1326G>A (p.Ser442=) c.1267G>A c.1290G>A (p.Ser430=) c.1041G>A (p.Ser347=) c.949G>A (p.Gly317Arg) n.1475G>A c.1299G>A (p.Ser433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301085G>C | CA438368462 | WFS1 | c.1326G>C (p.Ser442=) c.1267G>C c.1290G>C (p.Ser430=) c.1041G>C (p.Ser347=) c.949G>C (p.Gly317Arg) n.1475G>C c.1299G>C (p.Ser433=) | dbSNP gnomAD v4 |
4 | g.6301085G= | CA1435772675 | WFS1 | c.1326G= (p.Ser442=) c.1267G= c.1290G= (p.Ser430=) c.1041G= (p.Ser347=) c.949G= (p.Gly317=) n.1475G= c.1299G= (p.Ser433=) | |
4 | g.6301085G>T | CA438368461 | WFS1 | c.1326G>T (p.Ser442=) c.1267G>T c.1290G>T (p.Ser430=) c.1041G>T (p.Ser347=) c.949G>T (p.Gly317Ter) n.1475G>T c.1299G>T (p.Ser433=) | |
4 | g.6301086G>A | CA356174619 | WFS1 | c.1327G>A (p.Glu443Lys) c.1268G>A c.1291G>A (p.Glu431Lys) c.1042G>A (p.Glu348Lys) c.950G>A (p.Gly317Glu) n.1476G>A c.1300G>A (p.Glu434Lys) | |
4 | g.6301086G>C | CA356174621 | WFS1 | c.1327G>C (p.Glu443Gln) c.1268G>C c.1291G>C (p.Glu431Gln) c.1042G>C (p.Glu348Gln) c.950G>C (p.Gly317Ala) n.1476G>C c.1300G>C (p.Glu434Gln) | ClinVar dbSNP |
4 | g.6301086G>T | CA356174620 | WFS1 | c.1327G>T (p.Glu443Ter) c.1268G>T c.1291G>T (p.Glu431Ter) c.1042G>T (p.Glu348Ter) c.950G>T (p.Gly317Val) n.1476G>T c.1300G>T (p.Glu434Ter) | |
4 | g.6301087A= | CA1435772677 | WFS1 | c.1328A= (p.Glu443=) c.1269A= c.1292A= (p.Glu431=) c.1043A= (p.Glu348=) c.951A= (p.Gly317=) n.1477A= c.1301A= (p.Glu434=) | |
4 | g.6301087A>C | CA356174622 | WFS1 | c.1328A>C (p.Glu443Ala) c.1269A>C c.1292A>C (p.Glu431Ala) c.1043A>C (p.Glu348Ala) c.951A>C (p.Gly317=) n.1477A>C c.1301A>C (p.Glu434Ala) | gnomAD v4 |
4 | g.6301087A>G | CA2839298 | WFS1 | c.1328A>G (p.Glu443Gly) c.1269A>G c.1292A>G (p.Glu431Gly) c.1043A>G (p.Glu348Gly) c.951A>G (p.Gly317=) n.1477A>G c.1301A>G (p.Glu434Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301087A>T | CA356174623 | WFS1 | c.1328A>T (p.Glu443Val) c.1269A>T c.1292A>T (p.Glu431Val) c.1043A>T (p.Glu348Val) c.951A>T (p.Gly317=) n.1477A>T c.1301A>T (p.Glu434Val) | |
4 | g.6301088G>A | CA438368469 | WFS1 | c.1329G>A (p.Glu443=) c.1270G>A c.1293G>A (p.Glu431=) c.1044G>A (p.Glu348=) c.952G>A (p.Ala318Thr) n.1478G>A c.1302G>A (p.Glu434=) | dbSNP |
4 | g.6301088G>C | CA356174624 | WFS1 | c.1329G>C (p.Glu443Asp) c.1270G>C c.1293G>C (p.Glu431Asp) c.1044G>C (p.Glu348Asp) c.952G>C (p.Ala318Pro) n.1478G>C c.1302G>C (p.Glu434Asp) | |
4 | g.6301088G= | CA1435772678 | WFS1 | c.1329G= (p.Glu443=) c.1270G= c.1293G= (p.Glu431=) c.1044G= (p.Glu348=) c.952G= (p.Ala318=) n.1478G= c.1302G= (p.Glu434=) | |
4 | g.6301088G>T | CA356174625 | WFS1 | c.1329G>T (p.Glu443Asp) c.1270G>T c.1293G>T (p.Glu431Asp) c.1044G>T (p.Glu348Asp) c.952G>T (p.Ala318Ser) n.1478G>T c.1302G>T (p.Glu434Asp) | gnomAD v4 |
4 | g.6301089C>A | CA356174626 | WFS1 | c.1330C>A (p.Leu444Met) c.1271C>A c.1294C>A (p.Leu432Met) c.1045C>A (p.Leu349Met) c.953C>A (p.Ala318Asp) n.1479C>A c.1303C>A (p.Leu435Met) | |
4 | g.6301089C= | CA1435772681 | WFS1 | c.1330C= (p.Leu444=) c.1271C= c.1294C= (p.Leu432=) c.1045C= (p.Leu349=) c.953C= (p.Ala318=) n.1479C= c.1303C= (p.Leu435=) | |
4 | g.6301089C>G | CA295801 | WFS1 | c.1330C>G (p.Leu444Val) c.1271C>G c.1294C>G (p.Leu432Val) c.1045C>G (p.Leu349Val) c.953C>G (p.Ala318Gly) n.1479C>G c.1303C>G (p.Leu435Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301089C>T | CA179645 | WFS1 | c.1330C>T (p.Leu444=) c.1271C>T c.1294C>T (p.Leu432=) c.1045C>T (p.Leu349=) c.953C>T (p.Ala318Val) n.1479C>T c.1303C>T (p.Leu435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301090T>A | CA356174627 | WFS1 | c.1331T>A (p.Leu444Gln) c.1272T>A c.1295T>A (p.Leu432Gln) c.1046T>A (p.Leu349Gln) c.954T>A (p.Ala318=) n.1480T>A c.1304T>A (p.Leu435Gln) | |
4 | g.6301090T>C | CA356174628 | WFS1 | c.1331T>C (p.Leu444Pro) c.1272T>C c.1295T>C (p.Leu432Pro) c.1046T>C (p.Leu349Pro) c.954T>C (p.Ala318=) n.1480T>C c.1304T>C (p.Leu435Pro) | |
4 | g.6301090T>G | CA356174629 | WFS1 | c.1331T>G (p.Leu444Arg) c.1272T>G c.1295T>G (p.Leu432Arg) c.1046T>G (p.Leu349Arg) c.954T>G (p.Ala318=) n.1480T>G c.1304T>G (p.Leu435Arg) | gnomAD v4 |
4 | g.6301090_6301103delinsTGGCTGTCATCACC | CA1435772684 | WFS1 | c.1331_1344delinsTGGCTGTCATCACC (p.Leu444=) c.1272_1285delinsTGGCTGTCATCACC c.1295_1308delinsTGGCTGTCATCACC (p.Leu432=) c.1046_1059delinsTGGCTGTCATCACC (p.Leu349=) c.954_967delinsTGGCTGTCATCACC (p.Ala318=) n.1480_1493delinsTGGCTGTCATCACC c.1304_1317delinsTGGCTGTCATCACC (p.Leu435=) | |
4 | g.6301091G>A | CA91796248 | WFS1 | c.1332G>A (p.Leu444=) c.1273G>A c.1296G>A (p.Leu432=) c.1047G>A (p.Leu349=) c.955G>A (p.Gly319Ser) n.1481G>A c.1305G>A (p.Leu435=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301091G>C | CA438368471 | WFS1 | c.1332G>C (p.Leu444=) c.1273G>C c.1296G>C (p.Leu432=) c.1047G>C (p.Leu349=) c.955G>C (p.Gly319Arg) n.1481G>C c.1305G>C (p.Leu435=) | gnomAD v4 |
4 | g.6301091G= | CA1435772687 | WFS1 | c.1332G= (p.Leu444=) c.1273G= c.1296G= (p.Leu432=) c.1047G= (p.Leu349=) c.955G= (p.Gly319=) n.1481G= c.1305G= (p.Leu435=) | |
4 | g.6301091G>T | CA438368472 | WFS1 | c.1332G>T (p.Leu444=) c.1273G>T c.1296G>T (p.Leu432=) c.1047G>T (p.Leu349=) c.955G>T (p.Gly319Cys) n.1481G>T c.1305G>T (p.Leu435=) | |
4 | g.6301095_6301107del | CA549707908 | WFS1 | c.1336_1348del (p.Val446SerfsTer4) c.1277_1289del c.1300_1312del (p.Val434SerfsTer4) c.1051_1063del (p.Val351SerfsTer4) c.959_971del (p.Cys320PhefsTer?) n.1485_1497del c.1309_1321del (p.Val437SerfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301092G>A | CA179647 | WFS1 | c.1333G>A (p.Ala445Thr) c.1274G>A c.1297G>A (p.Ala433Thr) c.1048G>A (p.Ala350Thr) c.956G>A (p.Gly319Asp) n.1482G>A c.1306G>A (p.Ala436Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301092G>C | CA356174630 | WFS1 | c.1333G>C (p.Ala445Pro) c.1274G>C c.1297G>C (p.Ala433Pro) c.1048G>C (p.Ala350Pro) c.956G>C (p.Gly319Ala) n.1482G>C c.1306G>C (p.Ala436Pro) | gnomAD v4 |
4 | g.6301092G= | CA1435772689 | WFS1 | c.1333G= (p.Ala445=) c.1274G= c.1297G= (p.Ala433=) c.1048G= (p.Ala350=) c.956G= (p.Gly319=) n.1482G= c.1306G= (p.Ala436=) | |
4 | g.6301092G>T | CA356174631 | WFS1 | c.1333G>T (p.Ala445Ser) c.1274G>T c.1297G>T (p.Ala433Ser) c.1048G>T (p.Ala350Ser) c.956G>T (p.Gly319Val) n.1482G>T c.1306G>T (p.Ala436Ser) | gnomAD v4 |
4 | g.6301093_6301095dup | CA2578035799 | WFS1 | c.1334_1336dup (p.Ala445_Val446insAla) c.1275_1277dup c.1298_1300dup (p.Ala433_Val434insAla) c.1049_1051dup (p.Ala350_Val351insAla) c.957_959dup (p.Cys320_His321insCys) n.1483_1485dup c.1307_1309dup (p.Ala436_Val437insAla) | gnomAD v4 |
4 | g.6301093C>A | CA356174632 | WFS1 | c.1334C>A (p.Ala445Asp) c.1275C>A c.1298C>A (p.Ala433Asp) c.1049C>A (p.Ala350Asp) c.957C>A (p.Gly319=) n.1483C>A c.1307C>A (p.Ala436Asp) | |
4 | g.6301093C= | CA1435772690 | WFS1 | c.1334C= (p.Ala445=) c.1275C= c.1298C= (p.Ala433=) c.1049C= (p.Ala350=) c.957C= (p.Gly319=) n.1483C= c.1307C= (p.Ala436=) | |
4 | g.6301093C>G | CA356174633 | WFS1 | c.1334C>G (p.Ala445Gly) c.1275C>G c.1298C>G (p.Ala433Gly) c.1049C>G (p.Ala350Gly) c.957C>G (p.Gly319=) n.1483C>G c.1307C>G (p.Ala436Gly) | |
4 | g.6301093C>T | CA356174634 | WFS1 | c.1334C>T (p.Ala445Val) c.1275C>T c.1298C>T (p.Ala433Val) c.1049C>T (p.Ala350Val) c.957C>T (p.Gly319=) n.1483C>T c.1307C>T (p.Ala436Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301094T>A | CA438368481 | WFS1 | c.1335T>A (p.Ala445=) c.1276T>A c.1299T>A (p.Ala433=) c.1050T>A (p.Ala350=) c.958T>A (p.Cys320Ser) n.1484T>A c.1308T>A (p.Ala436=) | |
4 | g.6301094T>C | CA438368482 | WFS1 | c.1335T>C (p.Ala445=) c.1276T>C c.1299T>C (p.Ala433=) c.1050T>C (p.Ala350=) c.958T>C (p.Cys320Arg) n.1484T>C c.1308T>C (p.Ala436=) | |
4 | g.6301094T>G | CA438368483 | WFS1 | c.1335T>G (p.Ala445=) c.1276T>G c.1299T>G (p.Ala433=) c.1050T>G (p.Ala350=) c.958T>G (p.Cys320Gly) n.1484T>G c.1308T>G (p.Ala436=) | |
4 | g.6301095G>A | CA356174635 | WFS1 | c.1336G>A (p.Val446Ile) c.1277G>A c.1300G>A (p.Val434Ile) c.1051G>A (p.Val351Ile) c.959G>A (p.Cys320Tyr) n.1485G>A c.1309G>A (p.Val437Ile) | |
4 | g.6301095G>C | CA2839299 | WFS1 | c.1336G>C (p.Val446Leu) c.1277G>C c.1300G>C (p.Val434Leu) c.1051G>C (p.Val351Leu) c.959G>C (p.Cys320Ser) n.1485G>C c.1309G>C (p.Val437Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301095G= | CA1435772692 | WFS1 | c.1336G= (p.Val446=) c.1277G= c.1300G= (p.Val434=) c.1051G= (p.Val351=) c.959G= (p.Cys320=) n.1485G= c.1309G= (p.Val437=) | |
4 | g.6301095G>T | CA356174636 | WFS1 | c.1336G>T (p.Val446Phe) c.1277G>T c.1300G>T (p.Val434Phe) c.1051G>T (p.Val351Phe) c.959G>T (p.Cys320Phe) n.1485G>T c.1309G>T (p.Val437Phe) | gnomAD v4 |
4 | g.6301095_6301097del | CA2586973614 | WFS1 | c.1336_1338del (p.Val446del) c.1277_1279del c.1300_1302del (p.Val434del) c.1051_1053del (p.Val351del) c.959_961del (p.Cys320_His321delinsTyr) n.1485_1487del c.1309_1311del (p.Val437del) | |
4 | g.6301096T>A | CA356174637 | WFS1 | c.1337T>A (p.Val446Asp) c.1278T>A c.1301T>A (p.Val434Asp) c.1052T>A (p.Val351Asp) c.960T>A (p.Cys320Ter) n.1486T>A c.1310T>A (p.Val437Asp) | |
4 | g.6301096T>C | CA356174639 | WFS1 | c.1337T>C (p.Val446Ala) c.1278T>C c.1301T>C (p.Val434Ala) c.1052T>C (p.Val351Ala) c.960T>C (p.Cys320=) n.1486T>C c.1310T>C (p.Val437Ala) | |
4 | g.6301096T>G | CA356174638 | WFS1 | c.1337T>G (p.Val446Gly) c.1278T>G c.1301T>G (p.Val434Gly) c.1052T>G (p.Val351Gly) c.960T>G (p.Cys320Trp) n.1486T>G c.1310T>G (p.Val437Gly) | |
4 | g.6301097C>A | CA438368486 | WFS1 | c.1338C>A (p.Val446=) c.1279C>A c.1302C>A (p.Val434=) c.1053C>A (p.Val351=) c.961C>A (p.His321Asn) n.1487C>A c.1311C>A (p.Val437=) | gnomAD v4 |
4 | g.6301097C= | CA1435772695 | WFS1 | c.1338C= (p.Val446=) c.1279C= c.1302C= (p.Val434=) c.1053C= (p.Val351=) c.961C= (p.His321=) n.1487C= c.1311C= (p.Val437=) | |
4 | g.6301097C>G | CA438368487 | WFS1 | c.1338C>G (p.Val446=) c.1279C>G c.1302C>G (p.Val434=) c.1053C>G (p.Val351=) c.961C>G (p.His321Asp) n.1487C>G c.1311C>G (p.Val437=) | |
4 | g.6301097C>T | CA2839300 | WFS1 | c.1338C>T (p.Val446=) c.1279C>T c.1302C>T (p.Val434=) c.1053C>T (p.Val351=) c.961C>T (p.His321Tyr) n.1487C>T c.1311C>T (p.Val437=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301098A>C | CA356174640 | WFS1 | c.1339A>C (p.Ile447Leu) c.1280A>C c.1303A>C (p.Ile435Leu) c.1054A>C (p.Ile352Leu) c.962A>C (p.His321Pro) n.1488A>C c.1312A>C (p.Ile438Leu) | |
4 | g.6301098A>G | CA356174641 | WFS1 | c.1339A>G (p.Ile447Val) c.1280A>G c.1303A>G (p.Ile435Val) c.1054A>G (p.Ile352Val) c.962A>G (p.His321Arg) n.1488A>G c.1312A>G (p.Ile438Val) | |
4 | g.6301098A>T | CA356174642 | WFS1 | c.1339A>T (p.Ile447Phe) c.1280A>T c.1303A>T (p.Ile435Phe) c.1054A>T (p.Ile352Phe) c.962A>T (p.His321Leu) n.1488A>T c.1312A>T (p.Ile438Phe) | |
4 | g.6301099T>A | CA356174645 | WFS1 | c.1340T>A (p.Ile447Asn) c.1281T>A c.1304T>A (p.Ile435Asn) c.1055T>A (p.Ile352Asn) c.963T>A (p.His321Gln) n.1489T>A c.1313T>A (p.Ile438Asn) | gnomAD v4 |
4 | g.6301099T>C | CA356174643 | WFS1 | c.1340T>C (p.Ile447Thr) c.1281T>C c.1304T>C (p.Ile435Thr) c.1055T>C (p.Ile352Thr) c.963T>C (p.His321=) n.1489T>C c.1313T>C (p.Ile438Thr) | |
4 | g.6301099T>G | CA356174644 | WFS1 | c.1340T>G (p.Ile447Ser) c.1281T>G c.1304T>G (p.Ile435Ser) c.1055T>G (p.Ile352Ser) c.963T>G (p.His321Gln) n.1489T>G c.1313T>G (p.Ile438Ser) | |
4 | g.6301100C>A | CA438368494 | WFS1 | c.1341C>A (p.Ile447=) c.1282C>A c.1305C>A (p.Ile435=) c.1056C>A (p.Ile352=) c.964C>A (p.His322Asn) n.1490C>A c.1314C>A (p.Ile438=) | |
4 | g.6301100C= | CA1435772697 | WFS1 | c.1341C= (p.Ile447=) c.1282C= c.1305C= (p.Ile435=) c.1056C= (p.Ile352=) c.964C= (p.His322=) n.1490C= c.1314C= (p.Ile438=) | |
4 | g.6301100C>G | CA356174646 | WFS1 | c.1341C>G (p.Ile447Met) c.1282C>G c.1305C>G (p.Ile435Met) c.1056C>G (p.Ile352Met) c.964C>G (p.His322Asp) n.1490C>G c.1314C>G (p.Ile438Met) | |
4 | g.6301100C>T | CA2839301 | WFS1 | c.1341C>T (p.Ile447=) c.1282C>T c.1305C>T (p.Ile435=) c.1056C>T (p.Ile352=) c.964C>T (p.His322Tyr) n.1490C>T c.1314C>T (p.Ile438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301101A= | CA1435772698 | WFS1 | c.1342A= (p.Thr448=) c.1283A= c.1306A= (p.Thr436=) c.1057A= (p.Thr353=) c.965A= (p.His322=) n.1491A= c.1315A= (p.Thr439=) | |
4 | g.6301101A>C | CA356174647 | WFS1 | c.1342A>C (p.Thr448Pro) c.1283A>C c.1306A>C (p.Thr436Pro) c.1057A>C (p.Thr353Pro) c.965A>C (p.His322Pro) n.1491A>C c.1315A>C (p.Thr439Pro) | gnomAD v4 |
4 | g.6301101A>G | CA2839302 | WFS1 | c.1342A>G (p.Thr448Ala) c.1283A>G c.1306A>G (p.Thr436Ala) c.1057A>G (p.Thr353Ala) c.965A>G (p.His322Arg) n.1491A>G c.1315A>G (p.Thr439Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301101A>T | CA356174648 | WFS1 | c.1342A>T (p.Thr448Ser) c.1283A>T c.1306A>T (p.Thr436Ser) c.1057A>T (p.Thr353Ser) c.965A>T (p.His322Leu) n.1491A>T c.1315A>T (p.Thr439Ser) | |
4 | g.6301102C>A | CA356174649 | WFS1 | c.1343C>A (p.Thr448Asn) c.1284C>A c.1307C>A (p.Thr436Asn) c.1058C>A (p.Thr353Asn) c.966C>A (p.His322Gln) n.1492C>A c.1316C>A (p.Thr439Asn) | |
4 | g.6301102C= | CA1435772700 | WFS1 | c.1343C= (p.Thr448=) c.1284C= c.1307C= (p.Thr436=) c.1058C= (p.Thr353=) c.966C= (p.His322=) n.1492C= c.1316C= (p.Thr439=) | |
4 | g.6301102C>G | CA2839303 | WFS1 | c.1343C>G (p.Thr448Ser) c.1284C>G c.1307C>G (p.Thr436Ser) c.1058C>G (p.Thr353Ser) c.966C>G (p.His322Gln) n.1492C>G c.1316C>G (p.Thr439Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301102C>T | CA356174650 | WFS1 | c.1343C>T (p.Thr448Ile) c.1284C>T c.1307C>T (p.Thr436Ile) c.1058C>T (p.Thr353Ile) c.966C>T (p.His322=) n.1492C>T c.1316C>T (p.Thr439Ile) | COSMIC |
4 | g.6301103del | CA2586973615 | WFS1 | c.1344del (p.Gly449AlafsTer5) c.1285del c.1308del (p.Gly437AlafsTer5) c.1059del (p.Gly354AlafsTer5) c.967del (p.Arg323GlyfsTer?) n.1493del c.1317del (p.Gly440AlafsTer5) | |
4 | g.6301103C>A | CA2839304 | WFS1 | c.1344C>A (p.Thr448=) c.1285C>A c.1308C>A (p.Thr436=) c.1059C>A (p.Thr353=) c.967C>A (p.Arg323=) n.1493C>A c.1317C>A (p.Thr439=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301103C= | CA1435772703 | WFS1 | c.1344C= (p.Thr448=) c.1285C= c.1308C= (p.Thr436=) c.1059C= (p.Thr353=) c.967C= (p.Arg323=) n.1493C= c.1317C= (p.Thr439=) | |
4 | g.6301103C>G | CA438368499 | WFS1 | c.1344C>G (p.Thr448=) c.1285C>G c.1308C>G (p.Thr436=) c.1059C>G (p.Thr353=) c.967C>G (p.Arg323Gly) n.1493C>G c.1317C>G (p.Thr439=) | |
4 | g.6301103C>T | CA282570 | WFS1 | c.1344C>T (p.Thr448=) c.1285C>T c.1308C>T (p.Thr436=) c.1059C>T (p.Thr353=) c.967C>T (p.Arg323Trp) n.1493C>T c.1317C>T (p.Thr439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301104G>A | CA322119 | WFS1 | c.1345G>A (p.Gly449Ser) c.1286G>A c.1309G>A (p.Gly437Ser) c.1060G>A (p.Gly354Ser) c.968G>A (p.Arg323Gln) n.1494G>A c.1318G>A (p.Gly440Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301104G>C | CA2839306 | WFS1 | c.1345G>C (p.Gly449Arg) c.1286G>C c.1309G>C (p.Gly437Arg) c.1060G>C (p.Gly354Arg) c.968G>C (p.Arg323Pro) n.1494G>C c.1318G>C (p.Gly440Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301104G= | CA1435772708 | WFS1 | c.1345G= (p.Gly449=) c.1286G= c.1309G= (p.Gly437=) c.1060G= (p.Gly354=) c.968G= (p.Arg323=) n.1494G= c.1318G= (p.Gly440=) | |
4 | g.6301104G>T | CA2839305 | WFS1 | c.1345G>T (p.Gly449Cys) c.1286G>T c.1309G>T (p.Gly437Cys) c.1060G>T (p.Gly354Cys) c.968G>T (p.Arg323Leu) n.1494G>T c.1318G>T (p.Gly440Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301105G>A | CA356174651 | WFS1 | c.1346G>A (p.Gly449Asp) c.1287G>A c.1310G>A (p.Gly437Asp) c.1061G>A (p.Gly354Asp) c.969G>A (p.Arg323=) n.1495G>A c.1319G>A (p.Gly440Asp) | |
4 | g.6301105G>C | CA356174653 | WFS1 | c.1346G>C (p.Gly449Ala) c.1287G>C c.1310G>C (p.Gly437Ala) c.1061G>C (p.Gly354Ala) c.969G>C (p.Arg323=) n.1495G>C c.1319G>C (p.Gly440Ala) | |
4 | g.6301105G>T | CA356174652 | WFS1 | c.1346G>T (p.Gly449Val) c.1287G>T c.1310G>T (p.Gly437Val) c.1061G>T (p.Gly354Val) c.969G>T (p.Arg323=) n.1495G>T c.1319G>T (p.Gly440Val) | gnomAD v4 |
4 | g.6301106C>A | CA438368502 | WFS1 | c.1347C>A (p.Gly449=) c.1288C>A c.1311C>A (p.Gly437=) c.1062C>A (p.Gly354=) c.970C>A (p.Leu324Ile) n.1496C>A c.1320C>A (p.Gly440=) | |
4 | g.6301106C= | CA1435772711 | WFS1 | c.1347C= (p.Gly449=) c.1288C= c.1311C= (p.Gly437=) c.1062C= (p.Gly354=) c.970C= (p.Leu324=) n.1496C= c.1320C= (p.Gly440=) | |
4 | g.6301106C>G | CA438368504 | WFS1 | c.1347C>G (p.Gly449=) c.1288C>G c.1311C>G (p.Gly437=) c.1062C>G (p.Gly354=) c.970C>G (p.Leu324Val) n.1496C>G c.1320C>G (p.Gly440=) | |
4 | g.6301106C>T | CA10619003 | WFS1 | c.1347C>T (p.Gly449=) c.1288C>T c.1311C>T (p.Gly437=) c.1062C>T (p.Gly354=) c.970C>T (p.Leu324Phe) n.1496C>T c.1320C>T (p.Gly440=) | ClinVar dbSNP |
4 | g.6301107T>A | CA356174654 | WFS1 | c.1348T>A (p.Phe450Ile) c.1289T>A c.1312T>A (p.Phe438Ile) c.1063T>A (p.Phe355Ile) c.971T>A (p.Leu324His) n.1497T>A c.1321T>A (p.Phe441Ile) | |
4 | g.6301107T>C | CA356174655 | WFS1 | c.1348T>C (p.Phe450Leu) c.1289T>C c.1312T>C (p.Phe438Leu) c.1063T>C (p.Phe355Leu) c.971T>C (p.Leu324Pro) n.1497T>C c.1321T>C (p.Phe441Leu) | |
4 | g.6301107T>G | CA356174656 | WFS1 | c.1348T>G (p.Phe450Val) c.1289T>G c.1312T>G (p.Phe438Val) c.1063T>G (p.Phe355Val) c.971T>G (p.Leu324Arg) n.1497T>G c.1321T>G (p.Phe441Val) | |
4 | g.6301108dup | CA2739270015 | WFS1 | c.1349dup (p.Phe451LeufsTer?) c.1290dup c.1313dup (p.Phe439LeufsTer?) c.1064dup (p.Phe356LeufsTer?) c.972dup (p.Leu325SerfsTer4) n.1498dup c.1322dup (p.Phe442LeufsTer?) | ClinVar |
4 | g.6301108T>A | CA356174657 | WFS1 | c.1349T>A (p.Phe450Tyr) c.1290T>A c.1313T>A (p.Phe438Tyr) c.1064T>A (p.Phe355Tyr) c.972T>A (p.Leu324=) n.1498T>A c.1322T>A (p.Phe441Tyr) | |
4 | g.6301108T>C | CA356174658 | WFS1 | c.1349T>C (p.Phe450Ser) c.1290T>C c.1313T>C (p.Phe438Ser) c.1064T>C (p.Phe355Ser) c.972T>C (p.Leu324=) n.1498T>C c.1322T>C (p.Phe441Ser) | |
4 | g.6301108T>G | CA356174659 | WFS1 | c.1349T>G (p.Phe450Cys) c.1290T>G c.1313T>G (p.Phe438Cys) c.1064T>G (p.Phe355Cys) c.972T>G (p.Leu324=) n.1498T>G c.1322T>G (p.Phe441Cys) | |
4 | g.6301109C>A | CA356174660 | WFS1 | c.1350C>A (p.Phe450Leu) c.1291C>A c.1314C>A (p.Phe438Leu) c.1065C>A (p.Phe355Leu) c.973C>A (p.Leu325Ile) n.1499C>A c.1323C>A (p.Phe441Leu) | |
4 | g.6301109C= | CA1435772713 | WFS1 | c.1350C= (p.Phe450=) c.1291C= c.1314C= (p.Phe438=) c.1065C= (p.Phe355=) c.973C= (p.Leu325=) n.1499C= c.1323C= (p.Phe441=) | |
4 | g.6301109C>G | CA91796249 | WFS1 | c.1350C>G (p.Phe450Leu) c.1291C>G c.1314C>G (p.Phe438Leu) c.1065C>G (p.Phe355Leu) c.973C>G (p.Leu325Val) n.1499C>G c.1323C>G (p.Phe441Leu) | dbSNP gnomAD v4 |
4 | g.6301109C>T | CA438368512 | WFS1 | c.1350C>T (p.Phe450=) c.1291C>T c.1314C>T (p.Phe438=) c.1065C>T (p.Phe355=) c.973C>T (p.Leu325Phe) n.1499C>T c.1323C>T (p.Phe441=) | dbSNP gnomAD v2 |
4 | g.6301110T>A | CA356174661 | WFS1 | c.1351T>A (p.Phe451Ile) c.1292T>A c.1315T>A (p.Phe439Ile) c.1066T>A (p.Phe356Ile) c.974T>A (p.Leu325His) n.1500T>A c.1324T>A (p.Phe442Ile) | |
4 | g.6301110T>C | CA2839307 | WFS1 | c.1351T>C (p.Phe451Leu) c.1292T>C c.1315T>C (p.Phe439Leu) c.1066T>C (p.Phe356Leu) c.974T>C (p.Leu325Pro) n.1500T>C c.1324T>C (p.Phe442Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301110T>G | CA356174662 | WFS1 | c.1351T>G (p.Phe451Val) c.1292T>G c.1315T>G (p.Phe439Val) c.1066T>G (p.Phe356Val) c.974T>G (p.Leu325Arg) n.1500T>G c.1324T>G (p.Phe442Val) | gnomAD v4 |
4 | g.6301110T= | CA1435772715 | WFS1 | c.1351T= (p.Phe451=) c.1292T= c.1315T= (p.Phe439=) c.1066T= (p.Phe356=) c.974T= (p.Leu325=) n.1500T= c.1324T= (p.Phe442=) | |
4 | g.6301111T>A | CA356174664 | WFS1 | c.1352T>A (p.Phe451Tyr) c.1293T>A c.1316T>A (p.Phe439Tyr) c.1067T>A (p.Phe356Tyr) c.975T>A (p.Leu325=) n.1501T>A c.1325T>A (p.Phe442Tyr) | ClinVar |
4 | g.6301111T>C | CA356174663 | WFS1 | c.1352T>C (p.Phe451Ser) c.1293T>C c.1316T>C (p.Phe439Ser) c.1067T>C (p.Phe356Ser) c.975T>C (p.Leu325=) n.1501T>C c.1325T>C (p.Phe442Ser) | dbSNP gnomAD v4 |
4 | g.6301111T>G | CA324094 | WFS1 | c.1352T>G (p.Phe451Cys) c.1293T>G c.1316T>G (p.Phe439Cys) c.1067T>G (p.Phe356Cys) c.975T>G (p.Leu325=) n.1501T>G c.1325T>G (p.Phe442Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301111T= | CA1435772717 | WFS1 | c.1352T= (p.Phe451=) c.1293T= c.1316T= (p.Phe439=) c.1067T= (p.Phe356=) c.975T= (p.Leu325=) n.1501T= c.1325T= (p.Phe442=) | |
4 | g.6301112T>A | CA356174665 | WFS1 | c.1353T>A (p.Phe451Leu) c.1294T>A c.1317T>A (p.Phe439Leu) c.1068T>A (p.Phe356Leu) c.976T>A (p.Tyr326Asn) n.1502T>A c.1326T>A (p.Phe442Leu) | |
4 | g.6301112T>C | CA438368518 | WFS1 | c.1353T>C (p.Phe451=) c.1294T>C c.1317T>C (p.Phe439=) c.1068T>C (p.Phe356=) c.976T>C (p.Tyr326His) n.1502T>C c.1326T>C (p.Phe442=) | gnomAD v4 |
4 | g.6301112T>G | CA356174666 | WFS1 | c.1353T>G (p.Phe451Leu) c.1294T>G c.1317T>G (p.Phe439Leu) c.1068T>G (p.Phe356Leu) c.976T>G (p.Tyr326Asp) n.1502T>G c.1326T>G (p.Phe442Leu) | |
4 | g.6301113A>C | CA356174667 | WFS1 | c.1354A>C (p.Thr452Pro) c.1295A>C c.1318A>C (p.Thr440Pro) c.1069A>C (p.Thr357Pro) c.977A>C (p.Tyr326Ser) n.1503A>C c.1327A>C (p.Thr443Pro) | |
4 | g.6301113A>G | CA356174668 | WFS1 | c.1354A>G (p.Thr452Ala) c.1295A>G c.1318A>G (p.Thr440Ala) c.1069A>G (p.Thr357Ala) c.977A>G (p.Tyr326Cys) n.1503A>G c.1327A>G (p.Thr443Ala) | |
4 | g.6301113A>T | CA356174669 | WFS1 | c.1354A>T (p.Thr452Ser) c.1295A>T c.1318A>T (p.Thr440Ser) c.1069A>T (p.Thr357Ser) c.977A>T (p.Tyr326Phe) n.1503A>T c.1327A>T (p.Thr443Ser) | |
4 | g.6301114C>A | CA356174670 | WFS1 | c.1355C>A (p.Thr452Asn) c.1296C>A c.1319C>A (p.Thr440Asn) c.1070C>A (p.Thr357Asn) c.978C>A (p.Tyr326Ter) n.1504C>A c.1328C>A (p.Thr443Asn) | |
4 | g.6301114C= | CA1435772719 | WFS1 | c.1355C= (p.Thr452=) c.1296C= c.1319C= (p.Thr440=) c.1070C= (p.Thr357=) c.978C= (p.Tyr326=) n.1504C= c.1328C= (p.Thr443=) | |
4 | g.6301114C>G | CA356174671 | WFS1 | c.1355C>G (p.Thr452Ser) c.1296C>G c.1319C>G (p.Thr440Ser) c.1070C>G (p.Thr357Ser) c.978C>G (p.Tyr326Ter) n.1504C>G c.1328C>G (p.Thr443Ser) | |
4 | g.6301114C>T | CA2839308 | WFS1 | c.1355C>T (p.Thr452Ile) c.1296C>T c.1319C>T (p.Thr440Ile) c.1070C>T (p.Thr357Ile) c.978C>T (p.Tyr326=) n.1504C>T c.1328C>T (p.Thr443Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301115C>A | CA438368522 | WFS1 | c.1356C>A (p.Thr452=) c.1297C>A c.1320C>A (p.Thr440=) c.1071C>A (p.Thr357=) c.979C>A (p.Arg327Ser) n.1505C>A c.1329C>A (p.Thr443=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301115C= | CA1435772722 | WFS1 | c.1356C= (p.Thr452=) c.1297C= c.1320C= (p.Thr440=) c.1071C= (p.Thr357=) c.979C= (p.Arg327=) n.1505C= c.1329C= (p.Thr443=) | |
4 | g.6301115C>G | CA438368523 | WFS1 | c.1356C>G (p.Thr452=) c.1297C>G c.1320C>G (p.Thr440=) c.1071C>G (p.Thr357=) c.979C>G (p.Arg327Gly) n.1505C>G c.1329C>G (p.Thr443=) | dbSNP |
4 | g.6301115C>T | CA2839309 | WFS1 | c.1356C>T (p.Thr452=) c.1297C>T c.1320C>T (p.Thr440=) c.1071C>T (p.Thr357=) c.979C>T (p.Arg327Cys) n.1505C>T c.1329C>T (p.Thr443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301116G>A | CA182618 | WFS1 | c.1357G>A (p.Val453Met) c.1298G>A c.1321G>A (p.Val441Met) c.1072G>A (p.Val358Met) c.980G>A (p.Arg327His) n.1506G>A c.1330G>A (p.Val444Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301116G>C | CA356174672 | WFS1 | c.1357G>C (p.Val453Leu) c.1298G>C c.1321G>C (p.Val441Leu) c.1072G>C (p.Val358Leu) c.980G>C (p.Arg327Pro) n.1506G>C c.1330G>C (p.Val444Leu) | |
4 | g.6301116G= | CA1435772724 | WFS1 | c.1357G= (p.Val453=) c.1298G= c.1321G= (p.Val441=) c.1072G= (p.Val358=) c.980G= (p.Arg327=) n.1506G= c.1330G= (p.Val444=) | |
4 | g.6301116G>T | CA356174673 | WFS1 | c.1357G>T (p.Val453Leu) c.1298G>T c.1321G>T (p.Val441Leu) c.1072G>T (p.Val358Leu) c.980G>T (p.Arg327Leu) n.1506G>T c.1330G>T (p.Val444Leu) | dbSNP |
4 | g.6301117T>A | CA356174674 | WFS1 | c.1358T>A (p.Val453Glu) c.1299T>A c.1322T>A (p.Val441Glu) c.1073T>A (p.Val358Glu) c.981T>A (p.Arg327=) n.1507T>A c.1331T>A (p.Val444Glu) | |
4 | g.6301117T>C | CA356174676 | WFS1 | c.1358T>C (p.Val453Ala) c.1299T>C c.1322T>C (p.Val441Ala) c.1073T>C (p.Val358Ala) c.981T>C (p.Arg327=) n.1507T>C c.1331T>C (p.Val444Ala) | gnomAD v4 |
4 | g.6301117T>G | CA356174675 | WFS1 | c.1358T>G (p.Val453Gly) c.1299T>G c.1322T>G (p.Val441Gly) c.1073T>G (p.Val358Gly) c.981T>G (p.Arg327=) n.1507T>G c.1331T>G (p.Val444Gly) | |
4 | g.6301118G>A | CA2839310 | WFS1 | c.1359G>A (p.Val453=) c.1300G>A c.1323G>A (p.Val441=) c.1074G>A (p.Val358=) c.982G>A (p.Asp328Asn) n.1508G>A c.1332G>A (p.Val444=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301118G>C | CA438368530 | WFS1 | c.1359G>C (p.Val453=) c.1300G>C c.1323G>C (p.Val441=) c.1074G>C (p.Val358=) c.982G>C (p.Asp328His) n.1508G>C c.1332G>C (p.Val444=) | |
4 | g.6301118G= | CA1435772726 | WFS1 | c.1359G= (p.Val453=) c.1300G= c.1323G= (p.Val441=) c.1074G= (p.Val358=) c.982G= (p.Asp328=) n.1508G= c.1332G= (p.Val444=) | |
4 | g.6301118G>T | CA438368531 | WFS1 | c.1359G>T (p.Val453=) c.1300G>T c.1323G>T (p.Val441=) c.1074G>T (p.Val358=) c.982G>T (p.Asp328Tyr) n.1508G>T c.1332G>T (p.Val444=) | gnomAD v4 |
4 | g.6301119A>C | CA356174677 | WFS1 | c.1360A>C (p.Thr454Pro) c.1301A>C c.1324A>C (p.Thr442Pro) c.1075A>C (p.Thr359Pro) c.983A>C (p.Asp328Ala) n.1509A>C c.1333A>C (p.Thr445Pro) | |
4 | g.6301119A>G | CA356174678 | WFS1 | c.1360A>G (p.Thr454Ala) c.1301A>G c.1324A>G (p.Thr442Ala) c.1075A>G (p.Thr359Ala) c.983A>G (p.Asp328Gly) n.1509A>G c.1333A>G (p.Thr445Ala) | |
4 | g.6301119A>T | CA356174679 | WFS1 | c.1360A>T (p.Thr454Ser) c.1301A>T c.1324A>T (p.Thr442Ser) c.1075A>T (p.Thr359Ser) c.983A>T (p.Asp328Val) n.1509A>T c.1333A>T (p.Thr445Ser) | |
4 | g.6301120C>A | CA356174680 | WFS1 | c.1361C>A (p.Thr454Asn) c.1302C>A c.1325C>A (p.Thr442Asn) c.1076C>A (p.Thr359Asn) c.984C>A (p.Asp328Glu) n.1510C>A c.1334C>A (p.Thr445Asn) | |
4 | g.6301120C= | CA1435772728 | WFS1 | c.1361C= (p.Thr454=) c.1302C= c.1325C= (p.Thr442=) c.1076C= (p.Thr359=) c.984C= (p.Asp328=) n.1510C= c.1334C= (p.Thr445=) | |
4 | g.6301120C>G | CA91796250 | WFS1 | c.1361C>G (p.Thr454Ser) c.1302C>G c.1325C>G (p.Thr442Ser) c.1076C>G (p.Thr359Ser) c.984C>G (p.Asp328Glu) n.1510C>G c.1334C>G (p.Thr445Ser) | dbSNP gnomAD v4 |
4 | g.6301120C>T | CA356174681 | WFS1 | c.1361C>T (p.Thr454Ile) c.1302C>T c.1325C>T (p.Thr442Ile) c.1076C>T (p.Thr359Ile) c.984C>T (p.Asp328=) n.1510C>T c.1334C>T (p.Thr445Ile) | ClinVar dbSNP gnomAD v4 |
4 | g.6301121C>A | CA438368534 | WFS1 | c.1362C>A (p.Thr454=) c.1303C>A c.1326C>A (p.Thr442=) c.1077C>A (p.Thr359=) c.985C>A (p.Gln329Lys) n.1511C>A c.1335C>A (p.Thr445=) | |
4 | g.6301121C= | CA1435772731 | WFS1 | c.1362C= (p.Thr454=) c.1303C= c.1326C= (p.Thr442=) c.1077C= (p.Thr359=) c.985C= (p.Gln329=) n.1511C= c.1335C= (p.Thr445=) | |
4 | g.6301121C>G | CA438368536 | WFS1 | c.1362C>G (p.Thr454=) c.1303C>G c.1326C>G (p.Thr442=) c.1077C>G (p.Thr359=) c.985C>G (p.Gln329Glu) n.1511C>G c.1335C>G (p.Thr445=) | |
4 | g.6301121C>T | CA91796251 | WFS1 | c.1362C>T (p.Thr454=) c.1303C>T c.1326C>T (p.Thr442=) c.1077C>T (p.Thr359=) c.985C>T (p.Gln329Ter) n.1511C>T c.1335C>T (p.Thr445=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301122A>C | CA356174682 | WFS1 | c.1363A>C (p.Ser455Arg) c.1304A>C c.1327A>C (p.Ser443Arg) c.1078A>C (p.Ser360Arg) c.986A>C (p.Gln329Pro) n.1512A>C c.1336A>C (p.Ser446Arg) | |
4 | g.6301122A>G | CA356174683 | WFS1 | c.1363A>G (p.Ser455Gly) c.1304A>G c.1327A>G (p.Ser443Gly) c.1078A>G (p.Ser360Gly) c.986A>G (p.Gln329Arg) n.1512A>G c.1336A>G (p.Ser446Gly) | ClinVar |
4 | g.6301122A>T | CA356174684 | WFS1 | c.1363A>T (p.Ser455Cys) c.1304A>T c.1327A>T (p.Ser443Cys) c.1078A>T (p.Ser360Cys) c.986A>T (p.Gln329Leu) n.1512A>T c.1336A>T (p.Ser446Cys) | |
4 | g.6301123G>A | CA356174685 | WFS1 | c.1364G>A (p.Ser455Asn) c.1305G>A c.1328G>A (p.Ser443Asn) c.1079G>A (p.Ser360Asn) c.987G>A (p.Gln329=) n.1513G>A c.1337G>A (p.Ser446Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6301123G>C | CA356174686 | WFS1 | c.1364G>C (p.Ser455Thr) c.1305G>C c.1328G>C (p.Ser443Thr) c.1079G>C (p.Ser360Thr) c.987G>C (p.Gln329His) n.1513G>C c.1337G>C (p.Ser446Thr) | ClinVar |
4 | g.6301123G= | CA1435772733 | WFS1 | c.1364G= (p.Ser455=) c.1305G= c.1328G= (p.Ser443=) c.1079G= (p.Ser360=) c.987G= (p.Gln329=) n.1513G= c.1337G= (p.Ser446=) | |
4 | g.6301123G>T | CA356174687 | WFS1 | c.1364G>T (p.Ser455Ile) c.1305G>T c.1328G>T (p.Ser443Ile) c.1079G>T (p.Ser360Ile) c.987G>T (p.Gln329His) n.1513G>T c.1337G>T (p.Ser446Ile) | |
4 | g.6301124C>A | CA356174689 | WFS1 | c.1365C>A (p.Ser455Arg) c.1306C>A c.1329C>A (p.Ser443Arg) c.1080C>A (p.Ser360Arg) c.988C>A (p.Leu330Ile) n.1514C>A c.1338C>A (p.Ser446Arg) | gnomAD v4 |
4 | g.6301124C= | CA1435772735 | WFS1 | c.1365C= (p.Ser455=) c.1306C= c.1329C= (p.Ser443=) c.1080C= (p.Ser360=) c.988C= (p.Leu330=) n.1514C= c.1338C= (p.Ser446=) | |
4 | g.6301124C>G | CA356174688 | WFS1 | c.1365C>G (p.Ser455Arg) c.1306C>G c.1329C>G (p.Ser443Arg) c.1080C>G (p.Ser360Arg) c.988C>G (p.Leu330Val) n.1514C>G c.1338C>G (p.Ser446Arg) | ClinVar dbSNP |
4 | g.6301124C>T | CA2839311 | WFS1 | c.1365C>T (p.Ser455=) c.1306C>T c.1329C>T (p.Ser443=) c.1080C>T (p.Ser360=) c.988C>T (p.Leu330=) n.1514C>T c.1338C>T (p.Ser446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301125del | CA2760284999 | WFS1 | c.1366del (p.Tyr456ThrfsTer2) c.1307del c.1330del (p.Tyr444ThrfsTer2) c.1081del (p.Tyr361ThrfsTer2) c.989del (p.Leu330HisfsTer?) n.1515del c.1339del (p.Tyr447ThrfsTer2) | |
4 | g.6301125T>A | CA356174690 | WFS1 | c.1366T>A (p.Tyr456Asn) c.1307T>A c.1330T>A (p.Tyr444Asn) c.1081T>A (p.Tyr361Asn) c.989T>A (p.Leu330Gln) n.1515T>A c.1339T>A (p.Tyr447Asn) | |
4 | g.6301125T>C | CA356174691 | WFS1 | c.1366T>C (p.Tyr456His) c.1307T>C c.1330T>C (p.Tyr444His) c.1081T>C (p.Tyr361His) c.989T>C (p.Leu330Pro) n.1515T>C c.1339T>C (p.Tyr447His) | |
4 | g.6301125T>G | CA356174692 | WFS1 | c.1366T>G (p.Tyr456Asp) c.1307T>G c.1330T>G (p.Tyr444Asp) c.1081T>G (p.Tyr361Asp) c.989T>G (p.Leu330Arg) n.1515T>G c.1339T>G (p.Tyr447Asp) | |
4 | g.6301125_6301126insTTTTTA | CA2669843423 | WFS1 | c.1366_1367insTTTTTA (p.Tyr456delinsPhePheAsn) c.1307_1308insTTTTTA c.1330_1331insTTTTTA (p.Tyr444delinsPhePheAsn) c.1081_1082insTTTTTA (p.Tyr361delinsPhePheAsn) c.989_990insTTTTTA (p.Leu331PhefsTer2) n.1515_1516insTTTTTA c.1339_1340insTTTTTA (p.Tyr447delinsPhePheAsn) | gnomAD v4 |
4 | g.6301126A>C | CA356174693 | WFS1 | c.1367A>C (p.Tyr456Ser) c.1308A>C c.1331A>C (p.Tyr444Ser) c.1082A>C (p.Tyr361Ser) c.990A>C (p.Leu330=) n.1516A>C c.1340A>C (p.Tyr447Ser) | |
4 | g.6301126A>G | CA356174694 | WFS1 | c.1367A>G (p.Tyr456Cys) c.1308A>G c.1331A>G (p.Tyr444Cys) c.1082A>G (p.Tyr361Cys) c.990A>G (p.Leu330=) n.1516A>G c.1340A>G (p.Tyr447Cys) | |
4 | g.6301126A>T | CA356174695 | WFS1 | c.1367A>T (p.Tyr456Phe) c.1308A>T c.1331A>T (p.Tyr444Phe) c.1082A>T (p.Tyr361Phe) c.990A>T (p.Leu330=) n.1516A>T c.1340A>T (p.Tyr447Phe) | |
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.6301127C>A | CA356174696 | WFS1 | c.1368C>A (p.Tyr456Ter) c.1309C>A c.1332C>A (p.Tyr444Ter) c.1083C>A (p.Tyr361Ter) c.991C>A (p.Pro331Thr) n.1517C>A c.1341C>A (p.Tyr447Ter) | |
4 | g.6301127C= | CA1435772739 | WFS1 | c.1368C= (p.Tyr456=) c.1309C= c.1332C= (p.Tyr444=) c.1083C= (p.Tyr361=) c.991C= (p.Pro331=) n.1517C= c.1341C= (p.Tyr447=) | |
4 | g.6301127C>G | CA356174697 | WFS1 | c.1368C>G (p.Tyr456Ter) c.1309C>G c.1332C>G (p.Tyr444Ter) c.1083C>G (p.Tyr361Ter) c.991C>G (p.Pro331Ala) n.1517C>G c.1341C>G (p.Tyr447Ter) | |
4 | g.6301127C>T | CA438368547 | WFS1 | c.1368C>T (p.Tyr456=) c.1309C>T c.1332C>T (p.Tyr444=) c.1083C>T (p.Tyr361=) c.991C>T (p.Pro331Ser) n.1517C>T c.1341C>T (p.Tyr447=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301127_6301128del | CA2669843424 | WFS1 | c.1368_1369del (p.Leu457GlufsTer?) c.1309_1310del c.1332_1333del (p.Leu445GlufsTer?) c.1083_1084del (p.Leu362GlufsTer?) c.991_992del (p.Pro331Ter) n.1517_1518del c.1341_1342del (p.Leu448GlufsTer?) | gnomAD v4 |
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.6301127_6301128insT | CA2760285009 | WFS1 | c.1368_1369insT (p.Leu457SerfsTer?) c.1309_1310insT c.1332_1333insT (p.Leu445SerfsTer?) c.1083_1084insT (p.Leu362SerfsTer?) c.991_992insT (p.Pro331LeufsTer2) n.1517_1518insT c.1341_1342insT (p.Leu448SerfsTer?) | |
4 | g.6301128C>A | CA356174698 | WFS1 | c.1369C>A (p.Leu457Met) c.1310C>A c.1333C>A (p.Leu445Met) c.1084C>A (p.Leu362Met) c.992C>A (p.Pro331His) n.1518C>A c.1342C>A (p.Leu448Met) | |
4 | g.6301128C= | CA1435772742 | WFS1 | c.1369C= (p.Leu457=) c.1310C= c.1333C= (p.Leu445=) c.1084C= (p.Leu362=) c.992C= (p.Pro331=) n.1518C= c.1342C= (p.Leu448=) | |
4 | g.6301128C>G | CA2839313 | WFS1 | c.1369C>G (p.Leu457Val) c.1310C>G c.1333C>G (p.Leu445Val) c.1084C>G (p.Leu362Val) c.992C>G (p.Pro331Arg) n.1518C>G c.1342C>G (p.Leu448Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301128C>T | CA2839314 | WFS1 | c.1369C>T (p.Leu457=) c.1310C>T c.1333C>T (p.Leu445=) c.1084C>T (p.Leu362=) c.992C>T (p.Pro331Leu) n.1518C>T c.1342C>T (p.Leu448=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301129T>A | CA356174699 | WFS1 | c.1370T>A (p.Leu457Gln) c.1311T>A c.1334T>A (p.Leu445Gln) c.1085T>A (p.Leu362Gln) c.993T>A (p.Pro331=) n.1519T>A c.1343T>A (p.Leu448Gln) | |
4 | g.6301129T>C | CA356174701 | WFS1 | c.1370T>C (p.Leu457Pro) c.1311T>C c.1334T>C (p.Leu445Pro) c.1085T>C (p.Leu362Pro) c.993T>C (p.Pro331=) n.1519T>C c.1343T>C (p.Leu448Pro) | |
4 | g.6301129T>G | CA356174700 | WFS1 | c.1370T>G (p.Leu457Arg) c.1311T>G c.1334T>G (p.Leu445Arg) c.1085T>G (p.Leu362Arg) c.993T>G (p.Pro331=) n.1519T>G c.1343T>G (p.Leu448Arg) | |
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.6301130G>A | CA438368554 | WFS1 | c.1371G>A (p.Leu457=) c.1312G>A c.1335G>A (p.Leu445=) c.1086G>A (p.Leu362=) c.994G>A (p.Glu332Lys) n.1520G>A c.1344G>A (p.Leu448=) | |
4 | g.6301130G>C | CA438368556 | WFS1 | c.1371G>C (p.Leu457=) c.1312G>C c.1335G>C (p.Leu445=) c.1086G>C (p.Leu362=) c.994G>C (p.Glu332Gln) n.1520G>C c.1344G>C (p.Leu448=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301130G= | CA1435772745 | WFS1 | c.1371G= (p.Leu457=) c.1312G= c.1335G= (p.Leu445=) c.1086G= (p.Leu362=) c.994G= (p.Glu332=) n.1520G= c.1344G= (p.Leu448=) | |
4 | g.6301130G>T | CA438368559 | WFS1 | c.1371G>T (p.Leu457=) c.1312G>T c.1335G>T (p.Leu445=) c.1086G>T (p.Leu362=) c.994G>T (p.Glu332Ter) n.1520G>T c.1344G>T (p.Leu448=) | |
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.6301162_6301163del | CA2838259957 | WFS1 | c.1403_1404del (p.Arg468GlnfsTer?) c.1344_1345del c.1367_1368del (p.Arg456GlnfsTer?) c.1118_1119del (p.Arg373GlnfsTer?) c.1026_1027del (p.Gln343GlyfsTer20) n.1552_1553del c.1376_1377del (p.Arg459GlnfsTer?) | |
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.6301160dup | CA2840306458 | WFS1 | c.1401dup (p.Arg468AlafsTer?) c.1342dup c.1365dup (p.Arg456AlafsTer?) c.1116dup (p.Arg373AlafsTer?) c.1024dup (p.Ala342GlyfsTer22) n.1550dup c.1374dup (p.Arg459AlafsTer?) | |
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 |