Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6301062_6301134dupCA2669843422WFS1c.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
4g.6301076C>ACA438368435WFS1c.1317C>A (p.Ile439=)
c.1258C>A
c.1281C>A (p.Ile427=)
c.1032C>A (p.Ile344=)
c.940C>A (p.Pro314Thr)
n.1466C>A
c.1290C>A (p.Ile430=)
 dbSNP gnomAD v3 gnomAD v4
4g.6301076C=CA1435772662WFS1c.1317C= (p.Ile439=)
c.1258C=
c.1281C= (p.Ile427=)
c.1032C= (p.Ile344=)
c.940C= (p.Pro314=)
n.1466C=
c.1290C= (p.Ile430=)
4g.6301076C>GCA2839294WFS1c.1317C>G (p.Ile439Met)
c.1258C>G
c.1281C>G (p.Ile427Met)
c.1032C>G (p.Ile344Met)
c.940C>G (p.Pro314Ala)
n.1466C>G
c.1290C>G (p.Ile430Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301076C>TCA91796246WFS1c.1317C>T (p.Ile439=)
c.1258C>T
c.1281C>T (p.Ile427=)
c.1032C>T (p.Ile344=)
c.940C>T (p.Pro314Ser)
n.1466C>T
c.1290C>T (p.Ile430=)
 dbSNP gnomAD v2 gnomAD v4
4g.6301076_6301077delinsTTCA645523667WFS1c.1317_1318delinsTT (p.Pro440Ser)
c.1258_1259delinsTT
c.1281_1282delinsTT (p.Pro428Ser)
c.1032_1033delinsTT (p.Pro345Ser)
c.940_941delinsTT (p.Pro314Phe)
n.1466_1467delinsTT
c.1290_1291delinsTT (p.Pro431Ser)
 COSMIC
4g.6301077C>ACA356174601WFS1c.1318C>A (p.Pro440Thr)
c.1259C>A
c.1282C>A (p.Pro428Thr)
c.1033C>A (p.Pro345Thr)
c.941C>A (p.Pro314His)
n.1467C>A
c.1291C>A (p.Pro431Thr)
4g.6301077C>GCA356174602WFS1c.1318C>G (p.Pro440Ala)
c.1259C>G
c.1282C>G (p.Pro428Ala)
c.1033C>G (p.Pro345Ala)
c.941C>G (p.Pro314Arg)
n.1467C>G
c.1291C>G (p.Pro431Ala)
 ClinVar dbSNP
4g.6301077C>TCA356174603WFS1c.1318C>T (p.Pro440Ser)
c.1259C>T
c.1282C>T (p.Pro428Ser)
c.1033C>T (p.Pro345Ser)
c.941C>T (p.Pro314Leu)
n.1467C>T
c.1291C>T (p.Pro431Ser)
 gnomAD v4
4g.6301078C>ACA356174604WFS1c.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)
4g.6301078C=CA1435772664WFS1c.1319C= (p.Pro440=)
c.1260C=
c.1283C= (p.Pro428=)
c.1034C= (p.Pro345=)
c.942C= (p.Pro314=)
n.1468C=
c.1292C= (p.Pro431=)
4g.6301078C>GCA356174605WFS1c.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
4g.6301078C>TCA2839295WFS1c.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
4g.6301079C>ACA438368440WFS1c.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=)
4g.6301079C=CA1435772666WFS1c.1320C= (p.Pro440=)
c.1261C=
c.1284C= (p.Pro428=)
c.1035C= (p.Pro345=)
c.943C= (p.Leu315=)
n.1469C=
c.1293C= (p.Pro431=)
4g.6301079C>GCA438368441WFS1c.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=)
4g.6301079C>TCA438368444WFS1c.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
4g.6301080T>ACA356174606WFS1c.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)
4g.6301080T>CCA2839296WFS1c.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
4g.6301080T>GCA356174607WFS1c.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)
4g.6301080T=CA1435772668WFS1c.1321T= (p.Cys441=)
c.1262T=
c.1285T= (p.Cys429=)
c.1036T= (p.Cys346=)
c.944T= (p.Leu315=)
n.1470T=
c.1294T= (p.Cys432=)
4g.6301081G>ACA356174608WFS1c.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
4g.6301081G>CCA356174609WFS1c.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
4g.6301081G=CA1435772669WFS1c.1322G= (p.Cys441=)
c.1263G=
c.1286G= (p.Cys429=)
c.1037G= (p.Cys346=)
c.945G= (p.Leu315=)
n.1471G=
c.1295G= (p.Cys432=)
4g.6301081G>TCA356174610WFS1c.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)
4g.6301082C>ACA356174611WFS1c.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
4g.6301082C=CA1435772671WFS1c.1323C= (p.Cys441=)
c.1264C=
c.1287C= (p.Cys429=)
c.1038C= (p.Cys346=)
c.946C= (p.Leu316=)
n.1472C=
c.1296C= (p.Cys432=)
4g.6301082C>GCA356174612WFS1c.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)
4g.6301082C>TCA91796247WFS1c.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
4g.6301083T>ACA356174613WFS1c.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)
4g.6301083T>CCA356174614WFS1c.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)
4g.6301083T>GCA356174615WFS1c.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)
4g.6301084C>ACA356174616WFS1c.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
4g.6301084C=CA1435772673WFS1c.1325C= (p.Ser442=)
c.1266C=
c.1289C= (p.Ser430=)
c.1040C= (p.Ser347=)
c.948C= (p.Leu316=)
n.1474C=
c.1298C= (p.Ser433=)
4g.6301084C>GCA356174617WFS1c.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
4g.6301084C>TCA356174618WFS1c.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
4g.6301085G>ACA2839297WFS1c.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
4g.6301085G>CCA438368462WFS1c.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
4g.6301085G=CA1435772675WFS1c.1326G= (p.Ser442=)
c.1267G=
c.1290G= (p.Ser430=)
c.1041G= (p.Ser347=)
c.949G= (p.Gly317=)
n.1475G=
c.1299G= (p.Ser433=)
4g.6301085G>TCA438368461WFS1c.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=)
4g.6301086G>ACA356174619WFS1c.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)
4g.6301086G>CCA356174621WFS1c.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
4g.6301086G>TCA356174620WFS1c.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)
4g.6301087A=CA1435772677WFS1c.1328A= (p.Glu443=)
c.1269A=
c.1292A= (p.Glu431=)
c.1043A= (p.Glu348=)
c.951A= (p.Gly317=)
n.1477A=
c.1301A= (p.Glu434=)
4g.6301087A>CCA356174622WFS1c.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
4g.6301087A>GCA2839298WFS1c.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
4g.6301087A>TCA356174623WFS1c.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)
4g.6301088G>ACA438368469WFS1c.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
4g.6301088G>CCA356174624WFS1c.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)
4g.6301088G=CA1435772678WFS1c.1329G= (p.Glu443=)
c.1270G=
c.1293G= (p.Glu431=)
c.1044G= (p.Glu348=)
c.952G= (p.Ala318=)
n.1478G=
c.1302G= (p.Glu434=)
4g.6301088G>TCA356174625WFS1c.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
4g.6301089C>ACA356174626WFS1c.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)
4g.6301089C=CA1435772681WFS1c.1330C= (p.Leu444=)
c.1271C=
c.1294C= (p.Leu432=)
c.1045C= (p.Leu349=)
c.953C= (p.Ala318=)
n.1479C=
c.1303C= (p.Leu435=)
4g.6301089C>GCA295801WFS1c.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
4g.6301089C>TCA179645WFS1c.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
4g.6301090T>ACA356174627WFS1c.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)
4g.6301090T>CCA356174628WFS1c.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)
4g.6301090T>GCA356174629WFS1c.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
4g.6301090_6301103delinsTGGCTGTCATCACCCA1435772684WFS1c.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=)
4g.6301091G>ACA91796248WFS1c.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
4g.6301091G>CCA438368471WFS1c.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
4g.6301091G=CA1435772687WFS1c.1332G= (p.Leu444=)
c.1273G=
c.1296G= (p.Leu432=)
c.1047G= (p.Leu349=)
c.955G= (p.Gly319=)
n.1481G=
c.1305G= (p.Leu435=)
4g.6301091G>TCA438368472WFS1c.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=)
4g.6301095_6301107delCA549707908WFS1c.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
4g.6301092G>ACA179647WFS1c.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
4g.6301092G>CCA356174630WFS1c.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
4g.6301092G=CA1435772689WFS1c.1333G= (p.Ala445=)
c.1274G=
c.1297G= (p.Ala433=)
c.1048G= (p.Ala350=)
c.956G= (p.Gly319=)
n.1482G=
c.1306G= (p.Ala436=)
4g.6301092G>TCA356174631WFS1c.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
4g.6301093_6301095dupCA2578035799WFS1c.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
4g.6301093C>ACA356174632WFS1c.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)
4g.6301093C=CA1435772690WFS1c.1334C= (p.Ala445=)
c.1275C=
c.1298C= (p.Ala433=)
c.1049C= (p.Ala350=)
c.957C= (p.Gly319=)
n.1483C=
c.1307C= (p.Ala436=)
4g.6301093C>GCA356174633WFS1c.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)
4g.6301093C>TCA356174634WFS1c.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
4g.6301094T>ACA438368481WFS1c.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=)
4g.6301094T>CCA438368482WFS1c.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=)
4g.6301094T>GCA438368483WFS1c.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=)
4g.6301095G>ACA356174635WFS1c.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)
4g.6301095G>CCA2839299WFS1c.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
4g.6301095G=CA1435772692WFS1c.1336G= (p.Val446=)
c.1277G=
c.1300G= (p.Val434=)
c.1051G= (p.Val351=)
c.959G= (p.Cys320=)
n.1485G=
c.1309G= (p.Val437=)
4g.6301095G>TCA356174636WFS1c.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
4g.6301095_6301097delCA2586973614WFS1c.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)
4g.6301096T>ACA356174637WFS1c.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)
4g.6301096T>CCA356174639WFS1c.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)
4g.6301096T>GCA356174638WFS1c.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)
4g.6301097C>ACA438368486WFS1c.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
4g.6301097C=CA1435772695WFS1c.1338C= (p.Val446=)
c.1279C=
c.1302C= (p.Val434=)
c.1053C= (p.Val351=)
c.961C= (p.His321=)
n.1487C=
c.1311C= (p.Val437=)
4g.6301097C>GCA438368487WFS1c.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=)
4g.6301097C>TCA2839300WFS1c.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
4g.6301098A>CCA356174640WFS1c.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)
4g.6301098A>GCA356174641WFS1c.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)
4g.6301098A>TCA356174642WFS1c.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)
4g.6301099T>ACA356174645WFS1c.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
4g.6301099T>CCA356174643WFS1c.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)
4g.6301099T>GCA356174644WFS1c.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)
4g.6301100C>ACA438368494WFS1c.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=)
4g.6301100C=CA1435772697WFS1c.1341C= (p.Ile447=)
c.1282C=
c.1305C= (p.Ile435=)
c.1056C= (p.Ile352=)
c.964C= (p.His322=)
n.1490C=
c.1314C= (p.Ile438=)
4g.6301100C>GCA356174646WFS1c.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)
4g.6301100C>TCA2839301WFS1c.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
4g.6301101A=CA1435772698WFS1c.1342A= (p.Thr448=)
c.1283A=
c.1306A= (p.Thr436=)
c.1057A= (p.Thr353=)
c.965A= (p.His322=)
n.1491A=
c.1315A= (p.Thr439=)
4g.6301101A>CCA356174647WFS1c.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
4g.6301101A>GCA2839302WFS1c.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
4g.6301101A>TCA356174648WFS1c.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)
4g.6301102C>ACA356174649WFS1c.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)
4g.6301102C=CA1435772700WFS1c.1343C= (p.Thr448=)
c.1284C=
c.1307C= (p.Thr436=)
c.1058C= (p.Thr353=)
c.966C= (p.His322=)
n.1492C=
c.1316C= (p.Thr439=)
4g.6301102C>GCA2839303WFS1c.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
4g.6301102C>TCA356174650WFS1c.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
4g.6301103delCA2586973615WFS1c.1344del (p.Gly449AlafsTer5)
c.1285del
c.1308del (p.Gly437AlafsTer5)
c.1059del (p.Gly354AlafsTer5)
c.967del (p.Arg323GlyfsTer?)
n.1493del
c.1317del (p.Gly440AlafsTer5)
4g.6301103C>ACA2839304WFS1c.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
4g.6301103C=CA1435772703WFS1c.1344C= (p.Thr448=)
c.1285C=
c.1308C= (p.Thr436=)
c.1059C= (p.Thr353=)
c.967C= (p.Arg323=)
n.1493C=
c.1317C= (p.Thr439=)
4g.6301103C>GCA438368499WFS1c.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=)
4g.6301103C>TCA282570WFS1c.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
4g.6301104G>ACA322119WFS1c.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
4g.6301104G>CCA2839306WFS1c.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
4g.6301104G=CA1435772708WFS1c.1345G= (p.Gly449=)
c.1286G=
c.1309G= (p.Gly437=)
c.1060G= (p.Gly354=)
c.968G= (p.Arg323=)
n.1494G=
c.1318G= (p.Gly440=)
4g.6301104G>TCA2839305WFS1c.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
4g.6301105G>ACA356174651WFS1c.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)
4g.6301105G>CCA356174653WFS1c.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)
4g.6301105G>TCA356174652WFS1c.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
4g.6301106C>ACA438368502WFS1c.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=)
4g.6301106C=CA1435772711WFS1c.1347C= (p.Gly449=)
c.1288C=
c.1311C= (p.Gly437=)
c.1062C= (p.Gly354=)
c.970C= (p.Leu324=)
n.1496C=
c.1320C= (p.Gly440=)
4g.6301106C>GCA438368504WFS1c.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=)
4g.6301106C>TCA10619003WFS1c.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
4g.6301107T>ACA356174654WFS1c.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)
4g.6301107T>CCA356174655WFS1c.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)
4g.6301107T>GCA356174656WFS1c.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)
4g.6301108dupCA2739270015WFS1c.1349dup (p.Phe451LeufsTer?)
c.1290dup
c.1313dup (p.Phe439LeufsTer?)
c.1064dup (p.Phe356LeufsTer?)
c.972dup (p.Leu325SerfsTer4)
n.1498dup
c.1322dup (p.Phe442LeufsTer?)
 ClinVar
4g.6301108T>ACA356174657WFS1c.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)
4g.6301108T>CCA356174658WFS1c.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)
4g.6301108T>GCA356174659WFS1c.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)
4g.6301109C>ACA356174660WFS1c.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)
4g.6301109C=CA1435772713WFS1c.1350C= (p.Phe450=)
c.1291C=
c.1314C= (p.Phe438=)
c.1065C= (p.Phe355=)
c.973C= (p.Leu325=)
n.1499C=
c.1323C= (p.Phe441=)
4g.6301109C>GCA91796249WFS1c.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
4g.6301109C>TCA438368512WFS1c.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
4g.6301110T>ACA356174661WFS1c.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)
4g.6301110T>CCA2839307WFS1c.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
4g.6301110T>GCA356174662WFS1c.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
4g.6301110T=CA1435772715WFS1c.1351T= (p.Phe451=)
c.1292T=
c.1315T= (p.Phe439=)
c.1066T= (p.Phe356=)
c.974T= (p.Leu325=)
n.1500T=
c.1324T= (p.Phe442=)
4g.6301111T>ACA356174664WFS1c.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
4g.6301111T>CCA356174663WFS1c.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
4g.6301111T>GCA324094WFS1c.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
4g.6301111T=CA1435772717WFS1c.1352T= (p.Phe451=)
c.1293T=
c.1316T= (p.Phe439=)
c.1067T= (p.Phe356=)
c.975T= (p.Leu325=)
n.1501T=
c.1325T= (p.Phe442=)
4g.6301112T>ACA356174665WFS1c.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)
4g.6301112T>CCA438368518WFS1c.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
4g.6301112T>GCA356174666WFS1c.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)
4g.6301113A>CCA356174667WFS1c.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)
4g.6301113A>GCA356174668WFS1c.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)
4g.6301113A>TCA356174669WFS1c.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)
4g.6301114C>ACA356174670WFS1c.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)
4g.6301114C=CA1435772719WFS1c.1355C= (p.Thr452=)
c.1296C=
c.1319C= (p.Thr440=)
c.1070C= (p.Thr357=)
c.978C= (p.Tyr326=)
n.1504C=
c.1328C= (p.Thr443=)
4g.6301114C>GCA356174671WFS1c.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)
4g.6301114C>TCA2839308WFS1c.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
4g.6301115C>ACA438368522WFS1c.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
4g.6301115C=CA1435772722WFS1c.1356C= (p.Thr452=)
c.1297C=
c.1320C= (p.Thr440=)
c.1071C= (p.Thr357=)
c.979C= (p.Arg327=)
n.1505C=
c.1329C= (p.Thr443=)
4g.6301115C>GCA438368523WFS1c.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
4g.6301115C>TCA2839309WFS1c.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
4g.6301116G>ACA182618WFS1c.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
4g.6301116G>CCA356174672WFS1c.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)
4g.6301116G=CA1435772724WFS1c.1357G= (p.Val453=)
c.1298G=
c.1321G= (p.Val441=)
c.1072G= (p.Val358=)
c.980G= (p.Arg327=)
n.1506G=
c.1330G= (p.Val444=)
4g.6301116G>TCA356174673WFS1c.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
4g.6301117T>ACA356174674WFS1c.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)
4g.6301117T>CCA356174676WFS1c.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
4g.6301117T>GCA356174675WFS1c.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)
4g.6301118G>ACA2839310WFS1c.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
4g.6301118G>CCA438368530WFS1c.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=)
4g.6301118G=CA1435772726WFS1c.1359G= (p.Val453=)
c.1300G=
c.1323G= (p.Val441=)
c.1074G= (p.Val358=)
c.982G= (p.Asp328=)
n.1508G=
c.1332G= (p.Val444=)
4g.6301118G>TCA438368531WFS1c.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
4g.6301119A>CCA356174677WFS1c.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)
4g.6301119A>GCA356174678WFS1c.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)
4g.6301119A>TCA356174679WFS1c.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)
4g.6301120C>ACA356174680WFS1c.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)
4g.6301120C=CA1435772728WFS1c.1361C= (p.Thr454=)
c.1302C=
c.1325C= (p.Thr442=)
c.1076C= (p.Thr359=)
c.984C= (p.Asp328=)
n.1510C=
c.1334C= (p.Thr445=)
4g.6301120C>GCA91796250WFS1c.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
4g.6301120C>TCA356174681WFS1c.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
4g.6301121C>ACA438368534WFS1c.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=)
4g.6301121C=CA1435772731WFS1c.1362C= (p.Thr454=)
c.1303C=
c.1326C= (p.Thr442=)
c.1077C= (p.Thr359=)
c.985C= (p.Gln329=)
n.1511C=
c.1335C= (p.Thr445=)
4g.6301121C>GCA438368536WFS1c.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=)
4g.6301121C>TCA91796251WFS1c.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
4g.6301122A>CCA356174682WFS1c.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)
4g.6301122A>GCA356174683WFS1c.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
4g.6301122A>TCA356174684WFS1c.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)
4g.6301123G>ACA356174685WFS1c.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
4g.6301123G>CCA356174686WFS1c.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
4g.6301123G=CA1435772733WFS1c.1364G= (p.Ser455=)
c.1305G=
c.1328G= (p.Ser443=)
c.1079G= (p.Ser360=)
c.987G= (p.Gln329=)
n.1513G=
c.1337G= (p.Ser446=)
4g.6301123G>TCA356174687WFS1c.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)
4g.6301124C>ACA356174689WFS1c.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
4g.6301124C=CA1435772735WFS1c.1365C= (p.Ser455=)
c.1306C=
c.1329C= (p.Ser443=)
c.1080C= (p.Ser360=)
c.988C= (p.Leu330=)
n.1514C=
c.1338C= (p.Ser446=)
4g.6301124C>GCA356174688WFS1c.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
4g.6301124C>TCA2839311WFS1c.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
4g.6301125delCA2760284999WFS1c.1366del (p.Tyr456ThrfsTer2)
c.1307del
c.1330del (p.Tyr444ThrfsTer2)
c.1081del (p.Tyr361ThrfsTer2)
c.989del (p.Leu330HisfsTer?)
n.1515del
c.1339del (p.Tyr447ThrfsTer2)
4g.6301125T>ACA356174690WFS1c.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)
4g.6301125T>CCA356174691WFS1c.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)
4g.6301125T>GCA356174692WFS1c.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)
4g.6301125_6301126insTTTTTACA2669843423WFS1c.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
4g.6301126A>CCA356174693WFS1c.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)
4g.6301126A>GCA356174694WFS1c.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)
4g.6301126A>TCA356174695WFS1c.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)
4g.6301126_6301132delinsACCTGAGCA1435772737WFS1c.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=)
4g.6301127C>ACA356174696WFS1c.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)
4g.6301127C=CA1435772739WFS1c.1368C= (p.Tyr456=)
c.1309C=
c.1332C= (p.Tyr444=)
c.1083C= (p.Tyr361=)
c.991C= (p.Pro331=)
n.1517C=
c.1341C= (p.Tyr447=)
4g.6301127C>GCA356174697WFS1c.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)
4g.6301127C>TCA438368547WFS1c.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
4g.6301127_6301128delCA2669843424WFS1c.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
4g.6301134_6301139delCA2839312WFS1c.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
4g.6301127_6301128insTCA2760285009WFS1c.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?)
4g.6301128C>ACA356174698WFS1c.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)
4g.6301128C=CA1435772742WFS1c.1369C= (p.Leu457=)
c.1310C=
c.1333C= (p.Leu445=)
c.1084C= (p.Leu362=)
c.992C= (p.Pro331=)
n.1518C=
c.1342C= (p.Leu448=)
4g.6301128C>GCA2839313WFS1c.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
4g.6301128C>TCA2839314WFS1c.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
4g.6301129T>ACA356174699WFS1c.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)
4g.6301129T>CCA356174701WFS1c.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)
4g.6301129T>GCA356174700WFS1c.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)
4g.6301129_6301164dupCA2669843425WFS1c.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
4g.6301130G>ACA438368554WFS1c.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=)
4g.6301130G>CCA438368556WFS1c.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
4g.6301130G=CA1435772745WFS1c.1371G= (p.Leu457=)
c.1312G=
c.1335G= (p.Leu445=)
c.1086G= (p.Leu362=)
c.994G= (p.Glu332=)
n.1520G=
c.1344G= (p.Leu448=)
4g.6301130G>TCA438368559WFS1c.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=)
4g.6301131A>CCA356174702WFS1c.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)
4g.6301131A>GCA356174703WFS1c.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)
4g.6301131A>TCA356174704WFS1c.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)
4g.6301131_6301132insTACGCA2669843426WFS1c.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
4g.6301132G>ACA356174705WFS1c.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)
4g.6301132G>CCA356174706WFS1c.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)
4g.6301132G>TCA356174707WFS1c.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)
4g.6301133C>ACA356174708WFS1c.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)
4g.6301133C=CA1435772748WFS1c.1374C= (p.Ser458=)
c.1315C=
c.1338C= (p.Ser446=)
c.1089C= (p.Ser363=)
c.997C= (p.Pro333=)
n.1523C=
c.1347C= (p.Ser449=)
4g.6301133C>GCA356174709WFS1c.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
4g.6301133C>TCA91796252WFS1c.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
4g.6301134C>ACA356174710WFS1c.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
4g.6301134C=CA1435772750WFS1c.1375C= (p.Leu459=)
c.1316C=
c.1339C= (p.Leu447=)
c.1090C= (p.Leu364=)
c.998C= (p.Pro333=)
n.1524C=
c.1348C= (p.Leu450=)
4g.6301134C>GCA356174711WFS1c.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)
4g.6301134C>TCA91796253WFS1c.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
4g.6301134_6301135delCA2669843427WFS1c.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
4g.6301134_6301140delinsCTGAGCACA1435772752WFS1c.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=)
4g.6301135T>ACA356174712WFS1c.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)
4g.6301135T>CCA356174713WFS1c.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)
4g.6301135T>GCA356174714WFS1c.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)
4g.6301135_6301140delCA917120713WFS1c.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
4g.6301136G>ACA438368569WFS1c.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
4g.6301136G>CCA438368574WFS1c.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=)
4g.6301136G>TCA438368576WFS1c.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=)
4g.6301137A=CA1435772754WFS1c.1378A= (p.Ser460=)
c.1319A=
c.1342A= (p.Ser448=)
c.1093A= (p.Ser365=)
c.1001A= (p.Glu334=)
n.1527A=
c.1351A= (p.Ser451=)
4g.6301137A>CCA356174715WFS1c.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
4g.6301137A>GCA2839315WFS1c.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
4g.6301137A>TCA356174716WFS1c.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)
4g.6301137dupCA2669843428WFS1c.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
4g.6301138G>ACA356174717WFS1c.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
4g.6301138G>CCA356174718WFS1c.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
4g.6301138G>TCA356174719WFS1c.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)
4g.6301139C>ACA356174720WFS1c.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)
4g.6301139C=CA1435772756WFS1c.1380C= (p.Ser460=)
c.1321C=
c.1344C= (p.Ser448=)
c.1095C= (p.Ser365=)
c.1003C= (p.His335=)
n.1529C=
c.1353C= (p.Ser451=)
4g.6301139C>GCA356174721WFS1c.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)
4g.6301139C>TCA438368581WFS1c.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
4g.6301140A>CCA356174722WFS1c.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
4g.6301140A>GCA356174723WFS1c.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
4g.6301140A>TCA356174724WFS1c.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
4g.6301140_6301141insAACA2760285015WFS1c.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)
4g.6301141C>ACA356174725WFS1c.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)
4g.6301141C=CA1435772757WFS1c.1382C= (p.Thr461=)
c.1323C=
c.1346C= (p.Thr449=)
c.1097C= (p.Thr366=)
c.1005C= (p.His335=)
n.1531C=
c.1355C= (p.Thr452=)
4g.6301141C>GCA2839317WFS1c.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
4g.6301141C>TCA2839316WFS1c.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
4g.6301143dupCA2586973616WFS1c.1384dup (p.His462ProfsTer?)
c.1325dup
c.1348dup (p.His450ProfsTer?)
c.1099dup (p.His367ProfsTer?)
c.1007dup (p.Cys337MetfsTer27)
n.1533dup
c.1357dup (p.His453ProfsTer?)
4g.6301142C>ACA438368584WFS1c.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=)
4g.6301142C>GCA438368585WFS1c.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
4g.6301142C>TCA438368586WFS1c.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
4g.6301142_6301143insAAACACACCCAACACA2760285017WFS1c.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)
4g.6301143C>ACA356174727WFS1c.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)
4g.6301143C=CA1435772759WFS1c.1384C= (p.His462=)
c.1325C=
c.1348C= (p.His450=)
c.1099C= (p.His367=)
c.1007C= (p.Pro336=)
n.1533C=
c.1357C= (p.His453=)
4g.6301143C>GCA356174728WFS1c.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)
4g.6301143C>TCA356174726WFS1c.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
4g.6301144_6301145insAACCAAACACACCCAACACACA2760285018WFS1c.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)
4g.6301143_6301145delinsTAGCA2586973617WFS1c.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)
4g.6301143_6301148delCA2669843429WFS1c.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
4g.6301144A=CA1435772761WFS1c.1385A= (p.His462=)
c.1326A=
c.1349A= (p.His450=)
c.1100A= (p.His367=)
c.1008A= (p.Pro336=)
n.1534A=
c.1358A= (p.His453=)
4g.6301144A>CCA356174730WFS1c.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
4g.6301144A>GCA356174729WFS1c.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
4g.6301144A>TCA356174731WFS1c.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)
4g.6301145delCA2669843430WFS1c.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
4g.6301145T>ACA356174732WFS1c.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)
4g.6301145T>CCA16604717WFS1c.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
4g.6301145T>GCA356174733WFS1c.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)
4g.6301145T=CA1435772763WFS1c.1386T= (p.His462=)
c.1327T=
c.1350T= (p.His450=)
c.1101T= (p.His367=)
c.1009T= (p.Cys337=)
n.1535T=
c.1359T= (p.His453=)
4g.6301145_6301151delinsGCACA2586973618WFS1c.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)
4g.6301145_6301161delinsTGCAGAGCCCTACACGCCA1435772765WFS1c.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=)
4g.6301146G>ACA356174734WFS1c.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
4g.6301146G>CCA356174735WFS1c.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)
4g.6301146G=CA1435772767WFS1c.1387G= (p.Ala463=)
c.1328G=
c.1351G= (p.Ala451=)
c.1102G= (p.Ala368=)
c.1010G= (p.Cys337=)
n.1536G=
c.1360G= (p.Ala454=)
4g.6301146G>TCA356174736WFS1c.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
4g.6301150_6301165dupCA2586973619WFS1c.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?)
4g.6301150_6301165delCA797207318WFS1c.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
4g.6301147C>ACA356174737WFS1c.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)
4g.6301147C>GCA356174738WFS1c.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
4g.6301147C>TCA356174739WFS1c.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
4g.6301148A=CA1435772769WFS1c.1389A= (p.Ala463=)
c.1330A=
c.1353A= (p.Ala451=)
c.1104A= (p.Ala368=)
c.1012A= (p.Arg338=)
n.1538A=
c.1362A= (p.Ala454=)
4g.6301148A>CCA438368590WFS1c.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=)
4g.6301148A>GCA2839318WFS1c.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
4g.6301148A>TCA438368592WFS1c.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=)
4g.6301149G>ACA91796254WFS1c.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
4g.6301149G>CCA356174740WFS1c.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)
4g.6301149G=CA1435772771WFS1c.1390G= (p.Glu464=)
c.1331G=
c.1354G= (p.Glu452=)
c.1105G= (p.Glu369=)
c.1013G= (p.Arg338=)
n.1539G=
c.1363G= (p.Glu455=)
4g.6301149G>TCA356174741WFS1c.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)
4g.6301149_6301151delCA2669843431WFS1c.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
4g.6301150A=CA1435772773WFS1c.1391A= (p.Glu464=)
c.1332A=
c.1355A= (p.Glu452=)
c.1106A= (p.Glu369=)
c.1014A= (p.Arg338=)
n.1540A=
c.1364A= (p.Glu455=)
4g.6301150A>CCA356174742WFS1c.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
4g.6301150A>GCA356174743WFS1c.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)
4g.6301150A>TCA356174744WFS1c.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)
4g.6301150_6301166delinsAGCCCTACACGCGCAGGCA1435772774WFS1c.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=)
4g.6301151G>ACA438368595WFS1c.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
4g.6301151G>CCA356174746WFS1c.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)
4g.6301151G=CA1435772777WFS1c.1392G= (p.Glu464=)
c.1333G=
c.1356G= (p.Glu452=)
c.1107G= (p.Glu369=)
c.1015G= (p.Ala339=)
n.1541G=
c.1365G= (p.Glu455=)
4g.6301151G>TCA356174745WFS1c.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)
4g.6301156_6301171delCA1435772776WFS1c.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
4g.6301152C>ACA356174747WFS1c.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
4g.6301152C=CA1435772779WFS1c.1393C= (p.Pro465=)
c.1334C=
c.1357C= (p.Pro453=)
c.1108C= (p.Pro370=)
c.1016C= (p.Ala339=)
n.1542C=
c.1366C= (p.Pro456=)
4g.6301152C>GCA356174748WFS1c.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
4g.6301152C>TCA356174749WFS1c.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
4g.6301154delCA2586973620WFS1c.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
4g.6301153C>ACA356174750WFS1c.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
4g.6301153C>GCA356174751WFS1c.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)
4g.6301153C>TCA356174752WFS1c.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
4g.6301154C>ACA438368599WFS1c.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=)
4g.6301154C=CA1435772780WFS1c.1395C= (p.Pro465=)
c.1336C=
c.1359C= (p.Pro453=)
c.1110C= (p.Pro370=)
c.1018C= (p.Leu340=)
n.1544C=
c.1368C= (p.Pro456=)
4g.6301154C>GCA438368601WFS1c.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
4g.6301154C>TCA2839319WFS1c.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
4g.6301155T>ACA356174753WFS1c.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)
4g.6301155T>CCA356174754WFS1c.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)
4g.6301155T>GCA356174755WFS1c.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)
4g.6301156A>CCA356174756WFS1c.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)
4g.6301156A>GCA356174757WFS1c.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)
4g.6301156A>TCA356174758WFS1c.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)
4g.6301156_6301172delinsACACGCGCAGGGCCCTGCA1435772781WFS1c.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=)
4g.6301157C>ACA356174759WFS1c.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)
4g.6301157C=CA1435772785WFS1c.1398C= (p.Tyr466=)
c.1339C=
c.1362C= (p.Tyr454=)
c.1113C= (p.Tyr371=)
c.1021C= (p.His341=)
n.1547C=
c.1371C= (p.Tyr457=)
4g.6301157C>GCA356174760WFS1c.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
4g.6301157C>TCA91796255WFS1c.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
4g.6301157_6301172delCA658820915WFS1c.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
4g.6301158A=CA1435772788WFS1c.1399A= (p.Thr467=)
c.1340A=
c.1363A= (p.Thr455=)
c.1114A= (p.Thr372=)
c.1022A= (p.His341=)
n.1548A=
c.1372A= (p.Thr458=)
4g.6301158A>CCA356174761WFS1c.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
4g.6301158A>GCA356174762WFS1c.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)
4g.6301158A>TCA356174763WFS1c.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)
4g.6301159C>ACA356174764WFS1c.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
4g.6301159C=CA1435772789WFS1c.1400C= (p.Thr467=)
c.1341C=
c.1364C= (p.Thr455=)
c.1115C= (p.Thr372=)
c.1023C= (p.His341=)
n.1549C=
c.1373C= (p.Thr458=)
4g.6301159C>GCA356174765WFS1c.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
4g.6301159C>TCA2839320WFS1c.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
4g.6301160G>ACA2839321WFS1c.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
4g.6301160G>CCA2839322WFS1c.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
4g.6301160G=CA1435772793WFS1c.1401G= (p.Thr467=)
c.1342G=
c.1365G= (p.Thr455=)
c.1116G= (p.Thr372=)
c.1024G= (p.Ala342=)
n.1550G=
c.1374G= (p.Thr458=)
4g.6301160G>TCA438368604WFS1c.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=)
4g.6301161C>ACA356174766WFS1c.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)
4g.6301161C=CA1435772795WFS1c.1402C= (p.Arg468=)
c.1343C=
c.1366C= (p.Arg456=)
c.1117C= (p.Arg373=)
c.1025C= (p.Ala342=)
n.1551C=
c.1375C= (p.Arg459=)
4g.6301161C>GCA356174767WFS1c.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)
4g.6301161C>TCA2839323WFS1c.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
4g.6301162_6301177delCA2586973621WFS1c.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)
4g.6301162G>ACA136332WFS1c.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
4g.6301162G>CCA356174768WFS1c.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)
4g.6301162G=CA1435772796WFS1c.1403G= (p.Arg468=)
c.1344G=
c.1367G= (p.Arg456=)
c.1118G= (p.Arg373=)
c.1026G= (p.Ala342=)
n.1552G=
c.1376G= (p.Arg459=)
4g.6301162G>TCA356174769WFS1c.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
4g.6301163C>ACA438368606WFS1c.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=)
4g.6301163C=CA1435772798WFS1c.1404C= (p.Arg468=)
c.1345C=
c.1368C= (p.Arg456=)
c.1119C= (p.Arg373=)
c.1027C= (p.Gln343=)
n.1553C=
c.1377C= (p.Arg459=)
4g.6301163C>GCA438368607WFS1c.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=)
4g.6301163C>TCA438368608WFS1c.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
4g.6301164A=CA1435772799WFS1c.1405A= (p.Arg469=)
c.1346A=
c.1369A= (p.Arg457=)
c.1120A= (p.Arg374=)
c.1028A= (p.Gln343=)
n.1554A=
c.1378A= (p.Arg460=)
4g.6301164A>CCA438368609WFS1c.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=)
4g.6301164A>GCA91796256WFS1c.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
4g.6301164A>TCA356174770WFS1c.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)
4g.6301165G>ACA356174771WFS1c.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
4g.6301165G>CCA356174772WFS1c.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
4g.6301165G=CA1435772802WFS1c.1406G= (p.Arg469=)
c.1347G=
c.1370G= (p.Arg457=)
c.1121G= (p.Arg374=)
c.1029G= (p.Gln343=)
n.1555G=
c.1379G= (p.Arg460=)
4g.6301165G>TCA356174773WFS1c.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)
4g.6301166G>ACA438368611WFS1c.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
4g.6301166G>CCA356174774WFS1c.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)
4g.6301166G=CA1435772803WFS1c.1407G= (p.Arg469=)
c.1348G=
c.1371G= (p.Arg457=)
c.1122G= (p.Arg374=)
c.1030G= (p.Gly344=)
n.1556G=
c.1380G= (p.Arg460=)
4g.6301166G>TCA320009WFS1c.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
4g.6301167G>ACA356174775WFS1c.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
4g.6301167G>CCA356174776WFS1c.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)
4g.6301167G=CA1435772806WFS1c.1408G= (p.Ala470=)
c.1349G=
c.1372G= (p.Ala458=)
c.1123G= (p.Ala375=)
c.1031G= (p.Gly344=)
n.1557G=
c.1381G= (p.Ala461=)
4g.6301167G>TCA356174777WFS1c.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
4g.6301168C>ACA356174778WFS1c.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
4g.6301168C=CA1435772808WFS1c.1409C= (p.Ala470=)
c.1350C=
c.1373C= (p.Ala458=)
c.1124C= (p.Ala375=)
c.1032C= (p.Gly344=)
n.1558C=
c.1382C= (p.Ala461=)
4g.6301168C>GCA356174779WFS1c.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)
4g.6301168C>TCA356174780WFS1c.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
4g.6301169C>ACA438368615WFS1c.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
4g.6301169C>GCA438368617WFS1c.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=)
4g.6301169C>TCA438368619WFS1c.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
4g.6301170C>ACA356174782WFS1c.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)
4g.6301170C=CA1435772810WFS1c.1411C= (p.Leu471=)
c.1352C=
c.1375C= (p.Leu459=)
c.1126C= (p.Leu376=)
c.1034C= (p.Pro345=)
n.1560C=
c.1384C= (p.Leu462=)
4g.6301170C>GCA356174781WFS1c.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
4g.6301170C>TCA91796257WFS1c.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
4g.6301171T>ACA356174783WFS1c.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)
4g.6301171T>CCA356174785WFS1c.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)
4g.6301171T>GCA356174784WFS1c.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)
4g.6301172G>ACA2839324WFS1c.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
4g.6301172G>CCA438368622WFS1c.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
4g.6301172G=CA1435772811WFS1c.1413G= (p.Leu471=)
c.1354G=
c.1377G= (p.Leu459=)
c.1128G= (p.Leu376=)
c.1036G= (p.Gly346=)
n.1562G=
c.1386G= (p.Leu462=)
4g.6301172G>TCA438368624WFS1c.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
4g.6301173G>ACA2839325WFS1c.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
4g.6301173G>CCA356174786WFS1c.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
4g.6301173G=CA1435772813WFS1c.1414G= (p.Ala472=)
c.1355G=
c.1378G= (p.Ala460=)
c.1129G= (p.Ala377=)
c.1037G= (p.Gly346=)
n.1563G=
c.1387G= (p.Ala463=)
4g.6301173G>TCA356174787WFS1c.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
4g.6301174C>ACA356174788WFS1c.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)
4g.6301174C=CA1435772815WFS1c.1415C= (p.Ala472=)
c.1356C=
c.1379C= (p.Ala460=)
c.1130C= (p.Ala377=)
c.1038C= (p.Gly346=)
n.1564C=
c.1388C= (p.Ala463=)
4g.6301174C>GCA91796258WFS1c.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
4g.6301174C>TCA91796259WFS1c.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)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301175delCA2669843432WFS1c.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
4g.6301176_6301178delCA2580616072WFS1c.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
4g.6301174_6301183delinsCCACCGAGGTCA1435772817WFS1c.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=)
4g.6301175C>ACA438368625WFS1c.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=)
4g.6301175C>GCA438368626WFS1c.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
4g.6301175C>TCA438368627WFS1c.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
4g.6301180_6301188delCA658820916WFS1c.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
4g.6301176A=CA1435772820WFS1c.1417A= (p.Thr473=)
c.1358A=
c.1381A= (p.Thr461=)
c.1132A= (p.Thr378=)
c.1040A= (p.His347=)
n.1566A=
c.1390A= (p.Thr464=)
4g.6301176A>CCA356174789WFS1c.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
4g.6301176A>GCA2839326WFS1c.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
4g.6301176A>TCA356174790WFS1c.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

Number of alleles fetched