Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6300976A=CA1435772478WFS1c.1217A= (p.Glu406=)
c.1158A=
c.1181A= (p.Glu394=)
c.932A= (p.Glu311=)
c.840A= (p.Arg280=)
n.1366A=
c.1190A= (p.Glu397=)
4g.6300976A>CCA356174410WFS1c.1217A>C (p.Glu406Ala)
c.1158A>C
c.1181A>C (p.Glu394Ala)
c.932A>C (p.Glu311Ala)
c.840A>C (p.Arg280=)
n.1366A>C
c.1190A>C (p.Glu397Ala)
dbSNP
4g.6300976A>GCA356174411WFS1c.1217A>G (p.Glu406Gly)
c.1158A>G
c.1181A>G (p.Glu394Gly)
c.932A>G (p.Glu311Gly)
c.840A>G (p.Arg280=)
n.1366A>G
c.1190A>G (p.Glu397Gly)
4g.6300976A>TCA2839247WFS1c.1217A>T (p.Glu406Val)
c.1158A>T
c.1181A>T (p.Glu394Val)
c.932A>T (p.Glu311Val)
c.840A>T (p.Arg280=)
n.1366A>T
c.1190A>T (p.Glu397Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300977G>ACA438368149WFS1c.1218G>A (p.Glu406=)
c.1159G>A
c.1182G>A (p.Glu394=)
c.933G>A (p.Glu311=)
c.841G>A (p.Gly281Ser)
n.1367G>A
c.1191G>A (p.Glu397=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300977G>CCA356174412WFS1c.1218G>C (p.Glu406Asp)
c.1159G>C
c.1182G>C (p.Glu394Asp)
c.933G>C (p.Glu311Asp)
c.841G>C (p.Gly281Arg)
n.1367G>C
c.1191G>C (p.Glu397Asp)
4g.6300977G=CA1435772480WFS1c.1218G= (p.Glu406=)
c.1159G=
c.1182G= (p.Glu394=)
c.933G= (p.Glu311=)
c.841G= (p.Gly281=)
n.1367G=
c.1191G= (p.Glu397=)
4g.6300977G>TCA2839248WFS1c.1218G>T (p.Glu406Asp)
c.1159G>T
c.1182G>T (p.Glu394Asp)
c.933G>T (p.Glu311Asp)
c.841G>T (p.Gly281Cys)
n.1367G>T
c.1191G>T (p.Glu397Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300978G>ACA91796231WFS1c.1219G>A (p.Val407Ile)
c.1160G>A
c.1183G>A (p.Val395Ile)
c.934G>A (p.Val312Ile)
c.842G>A (p.Gly281Asp)
n.1368G>A
c.1192G>A (p.Val398Ile)
dbSNP
4g.6300978G>CCA356174413WFS1c.1219G>C (p.Val407Leu)
c.1160G>C
c.1183G>C (p.Val395Leu)
c.934G>C (p.Val312Leu)
c.842G>C (p.Gly281Ala)
n.1368G>C
c.1192G>C (p.Val398Leu)
gnomAD v4
4g.6300978G=CA1435772483WFS1c.1219G= (p.Val407=)
c.1160G=
c.1183G= (p.Val395=)
c.934G= (p.Val312=)
c.842G= (p.Gly281=)
n.1368G=
c.1192G= (p.Val398=)
4g.6300978G>TCA356174414WFS1c.1219G>T (p.Val407Phe)
c.1160G>T
c.1183G>T (p.Val395Phe)
c.934G>T (p.Val312Phe)
c.842G>T (p.Gly281Val)
n.1368G>T
c.1192G>T (p.Val398Phe)
4g.6300979T>ACA2839249WFS1c.1220T>A (p.Val407Asp)
c.1161T>A
c.1184T>A (p.Val395Asp)
c.935T>A (p.Val312Asp)
c.843T>A (p.Gly281=)
n.1369T>A
c.1193T>A (p.Val398Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300979T>CCA356174415WFS1c.1220T>C (p.Val407Ala)
c.1161T>C
c.1184T>C (p.Val395Ala)
c.935T>C (p.Val312Ala)
c.843T>C (p.Gly281=)
n.1369T>C
c.1193T>C (p.Val398Ala)
4g.6300979T>GCA356174416WFS1c.1220T>G (p.Val407Gly)
c.1161T>G
c.1184T>G (p.Val395Gly)
c.935T>G (p.Val312Gly)
c.843T>G (p.Gly281=)
n.1369T>G
c.1193T>G (p.Val398Gly)
4g.6300979T=CA1435772486WFS1c.1220T= (p.Val407=)
c.1161T=
c.1184T= (p.Val395=)
c.935T= (p.Val312=)
c.843T= (p.Gly281=)
n.1369T=
c.1193T= (p.Val398=)
4g.6300980C>ACA438368153WFS1c.1221C>A (p.Val407=)
c.1162C>A
c.1185C>A (p.Val395=)
c.936C>A (p.Val312=)
c.844C>A (p.Gln282Lys)
n.1370C>A
c.1194C>A (p.Val398=)
gnomAD v3 gnomAD v4
4g.6300980C=CA1435772490WFS1c.1221C= (p.Val407=)
c.1162C=
c.1185C= (p.Val395=)
c.936C= (p.Val312=)
c.844C= (p.Gln282=)
n.1370C=
c.1194C= (p.Val398=)
4g.6300980C>GCA91796232WFS1c.1221C>G (p.Val407=)
c.1162C>G
c.1185C>G (p.Val395=)
c.936C>G (p.Val312=)
c.844C>G (p.Gln282Glu)
n.1370C>G
c.1194C>G (p.Val398=)
ClinVar dbSNP gnomAD v4
4g.6300980C>TCA136330WFS1c.1221C>T (p.Val407=)
c.1162C>T
c.1185C>T (p.Val395=)
c.936C>T (p.Val312=)
c.844C>T (p.Gln282Ter)
n.1370C>T
c.1194C>T (p.Val398=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300981A>CCA356174417WFS1c.1222A>C (p.Asn408His)
c.1163A>C
c.1186A>C (p.Asn396His)
c.937A>C (p.Asn313His)
c.845A>C (p.Gln282Pro)
n.1371A>C
c.1195A>C (p.Asn399His)
4g.6300981A>GCA356174419WFS1c.1222A>G (p.Asn408Asp)
c.1163A>G
c.1186A>G (p.Asn396Asp)
c.937A>G (p.Asn313Asp)
c.845A>G (p.Gln282Arg)
n.1371A>G
c.1195A>G (p.Asn399Asp)
gnomAD v4
4g.6300981A>TCA356174418WFS1c.1222A>T (p.Asn408Tyr)
c.1163A>T
c.1186A>T (p.Asn396Tyr)
c.937A>T (p.Asn313Tyr)
c.845A>T (p.Gln282Leu)
n.1371A>T
c.1195A>T (p.Asn399Tyr)
4g.6300982A=CA1435772492WFS1c.1223A= (p.Asn408=)
c.1164A=
c.1187A= (p.Asn396=)
c.938A= (p.Asn313=)
c.846A= (p.Gln282=)
n.1372A=
c.1196A= (p.Asn399=)
4g.6300982A>CCA356174420WFS1c.1223A>C (p.Asn408Thr)
c.1164A>C
c.1187A>C (p.Asn396Thr)
c.938A>C (p.Asn313Thr)
c.846A>C (p.Gln282His)
n.1372A>C
c.1196A>C (p.Asn399Thr)
ClinVar
4g.6300982A>GCA2839250WFS1c.1223A>G (p.Asn408Ser)
c.1164A>G
c.1187A>G (p.Asn396Ser)
c.938A>G (p.Asn313Ser)
c.846A>G (p.Gln282=)
n.1372A>G
c.1196A>G (p.Asn399Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300982A>TCA356174421WFS1c.1223A>T (p.Asn408Ile)
c.1164A>T
c.1187A>T (p.Asn396Ile)
c.938A>T (p.Asn313Ile)
c.846A>T (p.Gln282His)
n.1372A>T
c.1196A>T (p.Asn399Ile)
4g.6300983C>ACA356174422WFS1c.1224C>A (p.Asn408Lys)
c.1165C>A
c.1188C>A (p.Asn396Lys)
c.939C>A (p.Asn313Lys)
c.847C>A (p.Leu283Ile)
n.1373C>A
c.1197C>A (p.Asn399Lys)
4g.6300983C=CA1435772494WFS1c.1224C= (p.Asn408=)
c.1165C=
c.1188C= (p.Asn396=)
c.939C= (p.Asn313=)
c.847C= (p.Leu283=)
n.1373C=
c.1197C= (p.Asn399=)
4g.6300983C>GCA356174423WFS1c.1224C>G (p.Asn408Lys)
c.1165C>G
c.1188C>G (p.Asn396Lys)
c.939C>G (p.Asn313Lys)
c.847C>G (p.Leu283Val)
n.1373C>G
c.1197C>G (p.Asn399Lys)
dbSNP
4g.6300983C>TCA91796233WFS1c.1224C>T (p.Asn408=)
c.1165C>T
c.1188C>T (p.Asn396=)
c.939C>T (p.Asn313=)
c.847C>T (p.Leu283Phe)
n.1373C>T
c.1197C>T (p.Asn399=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300984T>ACA356174424WFS1c.1225T>A (p.Phe409Ile)
c.1166T>A
c.1189T>A (p.Phe397Ile)
c.940T>A (p.Phe314Ile)
c.848T>A (p.Leu283His)
n.1374T>A
c.1198T>A (p.Phe400Ile)
4g.6300984T>CCA356174425WFS1c.1225T>C (p.Phe409Leu)
c.1166T>C
c.1189T>C (p.Phe397Leu)
c.940T>C (p.Phe314Leu)
c.848T>C (p.Leu283Pro)
n.1374T>C
c.1198T>C (p.Phe400Leu)
4g.6300984T>GCA356174426WFS1c.1225T>G (p.Phe409Val)
c.1166T>G
c.1189T>G (p.Phe397Val)
c.940T>G (p.Phe314Val)
c.848T>G (p.Leu283Arg)
n.1374T>G
c.1198T>G (p.Phe400Val)
4g.6300985T>ACA356174427WFS1c.1226T>A (p.Phe409Tyr)
c.1167T>A
c.1190T>A (p.Phe397Tyr)
c.941T>A (p.Phe314Tyr)
c.849T>A (p.Leu283=)
n.1375T>A
c.1199T>A (p.Phe400Tyr)
4g.6300985T>CCA356174428WFS1c.1226T>C (p.Phe409Ser)
c.1167T>C
c.1190T>C (p.Phe397Ser)
c.941T>C (p.Phe314Ser)
c.849T>C (p.Leu283=)
n.1375T>C
c.1199T>C (p.Phe400Ser)
4g.6300985T>GCA356174429WFS1c.1226T>G (p.Phe409Cys)
c.1167T>G
c.1190T>G (p.Phe397Cys)
c.941T>G (p.Phe314Cys)
c.849T>G (p.Leu283=)
n.1375T>G
c.1199T>G (p.Phe400Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300985T=CA1435772497WFS1c.1226T= (p.Phe409=)
c.1167T=
c.1190T= (p.Phe397=)
c.941T= (p.Phe314=)
c.849T= (p.Leu283=)
n.1375T=
c.1199T= (p.Phe400=)
4g.6300986C>ACA356174430WFS1c.1227C>A (p.Phe409Leu)
c.1168C>A
c.1191C>A (p.Phe397Leu)
c.942C>A (p.Phe314Leu)
c.850C>A (p.Arg284=)
n.1376C>A
c.1200C>A (p.Phe400Leu)
4g.6300986C=CA1435772499WFS1c.1227C= (p.Phe409=)
c.1168C=
c.1191C= (p.Phe397=)
c.942C= (p.Phe314=)
c.850C= (p.Arg284=)
n.1376C=
c.1200C= (p.Phe400=)
4g.6300986C>GCA91796234WFS1c.1227C>G (p.Phe409Leu)
c.1168C>G
c.1191C>G (p.Phe397Leu)
c.942C>G (p.Phe314Leu)
c.850C>G (p.Arg284Gly)
n.1376C>G
c.1200C>G (p.Phe400Leu)
dbSNP gnomAD v3 gnomAD v4
4g.6300986C>TCA2839251WFS1c.1227C>T (p.Phe409=)
c.1168C>T
c.1191C>T (p.Phe397=)
c.942C>T (p.Phe314=)
c.850C>T (p.Arg284Trp)
n.1376C>T
c.1200C>T (p.Phe400=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6300987G>ACA356174431WFS1c.1228G>A (p.Gly410Ser)
c.1169G>A
c.1192G>A (p.Gly398Ser)
c.943G>A (p.Gly315Ser)
c.851G>A (p.Arg284Gln)
n.1377G>A
c.1201G>A (p.Gly401Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300987G>CCA325363WFS1c.1228G>C (p.Gly410Arg)
c.1169G>C
c.1192G>C (p.Gly398Arg)
c.943G>C (p.Gly315Arg)
c.851G>C (p.Arg284Pro)
n.1377G>C
c.1201G>C (p.Gly401Arg)
ClinVar dbSNP
4g.6300987G=CA1435772502WFS1c.1228G= (p.Gly410=)
c.1169G=
c.1192G= (p.Gly398=)
c.943G= (p.Gly315=)
c.851G= (p.Arg284=)
n.1377G=
c.1201G= (p.Gly401=)
4g.6300987G>TCA356174432WFS1c.1228G>T (p.Gly410Cys)
c.1169G>T
c.1192G>T (p.Gly398Cys)
c.943G>T (p.Gly315Cys)
c.851G>T (p.Arg284Leu)
n.1377G>T
c.1201G>T (p.Gly401Cys)
dbSNP gnomAD v3 gnomAD v4
4g.6300988G>ACA356174433WFS1c.1229G>A (p.Gly410Asp)
c.1170G>A
c.1193G>A (p.Gly398Asp)
c.944G>A (p.Gly315Asp)
c.852G>A (p.Arg284=)
n.1378G>A
c.1202G>A (p.Gly401Asp)
4g.6300988G>CCA356174434WFS1c.1229G>C (p.Gly410Ala)
c.1170G>C
c.1193G>C (p.Gly398Ala)
c.944G>C (p.Gly315Ala)
c.852G>C (p.Arg284=)
n.1378G>C
c.1202G>C (p.Gly401Ala)
4g.6300988G>TCA356174435WFS1c.1229G>T (p.Gly410Val)
c.1170G>T
c.1193G>T (p.Gly398Val)
c.944G>T (p.Gly315Val)
c.852G>T (p.Arg284=)
n.1378G>T
c.1202G>T (p.Gly401Val)
4g.6300989C>ACA2839253WFS1c.1230C>A (p.Gly410=)
c.1171C>A
c.1194C>A (p.Gly398=)
c.945C>A (p.Gly315=)
c.853C>A (p.Leu285Met)
n.1379C>A
c.1203C>A (p.Gly401=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300989C=CA1435772504WFS1c.1230C= (p.Gly410=)
c.1171C=
c.1194C= (p.Gly398=)
c.945C= (p.Gly315=)
c.853C= (p.Leu285=)
n.1379C=
c.1203C= (p.Gly401=)
4g.6300989C>GCA438368158WFS1c.1230C>G (p.Gly410=)
c.1171C>G
c.1194C>G (p.Gly398=)
c.945C>G (p.Gly315=)
c.853C>G (p.Leu285Val)
n.1379C>G
c.1203C>G (p.Gly401=)
4g.6300989C>TCA2839252WFS1c.1230C>T (p.Gly410=)
c.1171C>T
c.1194C>T (p.Gly398=)
c.945C>T (p.Gly315=)
c.853C>T (p.Leu285=)
n.1379C>T
c.1203C>T (p.Gly401=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300990T>ACA356174436WFS1c.1231T>A (p.Trp411Arg)
c.1172T>A
c.1195T>A (p.Trp399Arg)
c.946T>A (p.Trp316Arg)
c.854T>A (p.Leu285Gln)
n.1380T>A
c.1204T>A (p.Trp402Arg)
4g.6300990T>CCA356174437WFS1c.1231T>C (p.Trp411Arg)
c.1172T>C
c.1195T>C (p.Trp399Arg)
c.946T>C (p.Trp316Arg)
c.854T>C (p.Leu285Pro)
n.1380T>C
c.1204T>C (p.Trp402Arg)
4g.6300990T>GCA320196WFS1c.1231T>G (p.Trp411Gly)
c.1172T>G
c.1195T>G (p.Trp399Gly)
c.946T>G (p.Trp316Gly)
c.854T>G (p.Leu285Arg)
n.1380T>G
c.1204T>G (p.Trp402Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300990T=CA1435772508WFS1c.1231T= (p.Trp411=)
c.1172T=
c.1195T= (p.Trp399=)
c.946T= (p.Trp316=)
c.854T= (p.Leu285=)
n.1380T=
c.1204T= (p.Trp402=)
4g.6300991G>ACA356174440WFS1c.1232G>A (p.Trp411Ter)
c.1173G>A
c.1196G>A (p.Trp399Ter)
c.947G>A (p.Trp316Ter)
c.855G>A (p.Leu285=)
n.1381G>A
c.1205G>A (p.Trp402Ter)
gnomAD v4
4g.6300991G>CCA356174439WFS1c.1232G>C (p.Trp411Ser)
c.1173G>C
c.1196G>C (p.Trp399Ser)
c.947G>C (p.Trp316Ser)
c.855G>C (p.Leu285=)
n.1381G>C
c.1205G>C (p.Trp402Ser)
dbSNP
4g.6300991G=CA1435772510WFS1c.1232G= (p.Trp411=)
c.1173G=
c.1196G= (p.Trp399=)
c.947G= (p.Trp316=)
c.855G= (p.Leu285=)
n.1381G=
c.1205G= (p.Trp402=)
4g.6300991G>TCA356174438WFS1c.1232G>T (p.Trp411Leu)
c.1173G>T
c.1196G>T (p.Trp399Leu)
c.947G>T (p.Trp316Leu)
c.855G>T (p.Leu285=)
n.1381G>T
c.1205G>T (p.Trp402Leu)
4g.6300992G>ACA2839254WFS1c.1233G>A (p.Trp411Ter)
c.1174G>A
c.1197G>A (p.Trp399Ter)
c.948G>A (p.Trp316Ter)
c.856G>A (p.Glu286Lys)
n.1382G>A
c.1206G>A (p.Trp402Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300992G>CCA356174442WFS1c.1233G>C (p.Trp411Cys)
c.1174G>C
c.1197G>C (p.Trp399Cys)
c.948G>C (p.Trp316Cys)
c.856G>C (p.Glu286Gln)
n.1382G>C
c.1206G>C (p.Trp402Cys)
4g.6300992G=CA1435772512WFS1c.1233G= (p.Trp411=)
c.1174G=
c.1197G= (p.Trp399=)
c.948G= (p.Trp316=)
c.856G= (p.Glu286=)
n.1382G=
c.1206G= (p.Trp402=)
4g.6300992G>TCA356174441WFS1c.1233G>T (p.Trp411Cys)
c.1174G>T
c.1197G>T (p.Trp399Cys)
c.948G>T (p.Trp316Cys)
c.856G>T (p.Glu286Ter)
n.1382G>T
c.1206G>T (p.Trp402Cys)
4g.6300993A>CCA356174443WFS1c.1234A>C (p.Asn412His)
c.1175A>C
c.1198A>C (p.Asn400His)
c.949A>C (p.Asn317His)
c.857A>C (p.Glu286Ala)
n.1383A>C
c.1207A>C (p.Asn403His)
4g.6300993A>GCA356174445WFS1c.1234A>G (p.Asn412Asp)
c.1175A>G
c.1198A>G (p.Asn400Asp)
c.949A>G (p.Asn317Asp)
c.857A>G (p.Glu286Gly)
n.1383A>G
c.1207A>G (p.Asn403Asp)
ClinVar gnomAD v4
4g.6300993A>TCA356174444WFS1c.1234A>T (p.Asn412Tyr)
c.1175A>T
c.1198A>T (p.Asn400Tyr)
c.949A>T (p.Asn317Tyr)
c.857A>T (p.Glu286Val)
n.1383A>T
c.1207A>T (p.Asn403Tyr)
4g.6300994A=CA1435772513WFS1c.1235A= (p.Asn412=)
c.1176A=
c.1199A= (p.Asn400=)
c.950A= (p.Asn317=)
c.858A= (p.Glu286=)
n.1384A=
c.1208A= (p.Asn403=)
4g.6300994A>CCA356174446WFS1c.1235A>C (p.Asn412Thr)
c.1176A>C
c.1199A>C (p.Asn400Thr)
c.950A>C (p.Asn317Thr)
c.858A>C (p.Glu286Asp)
n.1384A>C
c.1208A>C (p.Asn403Thr)
dbSNP gnomAD v3 gnomAD v4
4g.6300994A>GCA2839255WFS1c.1235A>G (p.Asn412Ser)
c.1176A>G
c.1199A>G (p.Asn400Ser)
c.950A>G (p.Asn317Ser)
c.858A>G (p.Glu286=)
n.1384A>G
c.1208A>G (p.Asn403Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300994A>TCA356174447WFS1c.1235A>T (p.Asn412Ile)
c.1176A>T
c.1199A>T (p.Asn400Ile)
c.950A>T (p.Asn317Ile)
c.858A>T (p.Glu286Asp)
n.1384A>T
c.1208A>T (p.Asn403Ile)
4g.6300995C>ACA356174448WFS1c.1236C>A (p.Asn412Lys)
c.1177C>A
c.1200C>A (p.Asn400Lys)
c.951C>A (p.Asn317Lys)
c.859C>A (p.Pro287Thr)
n.1385C>A
c.1209C>A (p.Asn403Lys)
4g.6300995C=CA1435772515WFS1c.1236C= (p.Asn412=)
c.1177C=
c.1200C= (p.Asn400=)
c.951C= (p.Asn317=)
c.859C= (p.Pro287=)
n.1385C=
c.1209C= (p.Asn403=)
4g.6300995C>GCA356174449WFS1c.1236C>G (p.Asn412Lys)
c.1177C>G
c.1200C>G (p.Asn400Lys)
c.951C>G (p.Asn317Lys)
c.859C>G (p.Pro287Ala)
n.1385C>G
c.1209C>G (p.Asn403Lys)
dbSNP gnomAD v2 gnomAD v4
4g.6300995C>TCA438368163WFS1c.1236C>T (p.Asn412=)
c.1177C>T
c.1200C>T (p.Asn400=)
c.951C>T (p.Asn317=)
c.859C>T (p.Pro287Ser)
n.1385C>T
c.1209C>T (p.Asn403=)
4g.6300996C>ACA356174450WFS1c.1237C>A (p.His413Asn)
c.1178C>A
c.1201C>A (p.His401Asn)
c.952C>A (p.His318Asn)
c.860C>A (p.Pro287Gln)
n.1386C>A
c.1210C>A (p.His404Asn)
4g.6300996C=CA1435772517WFS1c.1237C= (p.His413=)
c.1178C=
c.1201C= (p.His401=)
c.952C= (p.His318=)
c.860C= (p.Pro287=)
n.1386C=
c.1210C= (p.His404=)
4g.6300996C>GCA356174451WFS1c.1237C>G (p.His413Asp)
c.1178C>G
c.1201C>G (p.His401Asp)
c.952C>G (p.His318Asp)
c.860C>G (p.Pro287Arg)
n.1386C>G
c.1210C>G (p.His404Asp)
dbSNP gnomAD v2 gnomAD v4
4g.6300996C>TCA356174452WFS1c.1237C>T (p.His413Tyr)
c.1178C>T
c.1201C>T (p.His401Tyr)
c.952C>T (p.His318Tyr)
c.860C>T (p.Pro287Leu)
n.1386C>T
c.1210C>T (p.His404Tyr)
ClinVar
4g.6300997A=CA1435772518WFS1c.1238A= (p.His413=)
c.1179A=
c.1202A= (p.His401=)
c.953A= (p.His318=)
c.861A= (p.Pro287=)
n.1387A=
c.1211A= (p.His404=)
4g.6300997A>CCA356174453WFS1c.1238A>C (p.His413Pro)
c.1179A>C
c.1202A>C (p.His401Pro)
c.953A>C (p.His318Pro)
c.861A>C (p.Pro287=)
n.1387A>C
c.1211A>C (p.His404Pro)
4g.6300997A>GCA356174454WFS1c.1238A>G (p.His413Arg)
c.1179A>G
c.1202A>G (p.His401Arg)
c.953A>G (p.His318Arg)
c.861A>G (p.Pro287=)
n.1387A>G
c.1211A>G (p.His404Arg)
dbSNP gnomAD v2 gnomAD v4
4g.6300997A>TCA356174455WFS1c.1238A>T (p.His413Leu)
c.1179A>T
c.1202A>T (p.His401Leu)
c.953A>T (p.His318Leu)
c.861A>T (p.Pro287=)
n.1387A>T
c.1211A>T (p.His404Leu)
4g.6300998C>ACA356174456WFS1c.1239C>A (p.His413Gln)
c.1180C>A
c.1203C>A (p.His401Gln)
c.954C>A (p.His318Gln)
c.862C>A (p.Pro288Thr)
n.1388C>A
c.1212C>A (p.His404Gln)
4g.6300998C>GCA356174457WFS1c.1239C>G (p.His413Gln)
c.1180C>G
c.1203C>G (p.His401Gln)
c.954C>G (p.His318Gln)
c.862C>G (p.Pro288Ala)
n.1388C>G
c.1212C>G (p.His404Gln)
gnomAD v4
4g.6300998C>TCA438368165WFS1c.1239C>T (p.His413=)
c.1180C>T
c.1203C>T (p.His401=)
c.954C>T (p.His318=)
c.862C>T (p.Pro288Ser)
n.1388C>T
c.1212C>T (p.His404=)
gnomAD v4
4g.6300999C>ACA356174458WFS1c.1240C>A (p.Leu414Met)
c.1181C>A
c.1204C>A (p.Leu402Met)
c.955C>A (p.Leu319Met)
c.863C>A (p.Pro288His)
n.1389C>A
c.1213C>A (p.Leu405Met)
4g.6300999C=CA1435772521WFS1c.1240C= (p.Leu414=)
c.1181C=
c.1204C= (p.Leu402=)
c.955C= (p.Leu319=)
c.863C= (p.Pro288=)
n.1389C=
c.1213C= (p.Leu405=)
4g.6300999C>GCA356174459WFS1c.1240C>G (p.Leu414Val)
c.1181C>G
c.1204C>G (p.Leu402Val)
c.955C>G (p.Leu319Val)
c.863C>G (p.Pro288Arg)
n.1389C>G
c.1213C>G (p.Leu405Val)
gnomAD v4
4g.6300999C>TCA2839256WFS1c.1240C>T (p.Leu414=)
c.1181C>T
c.1204C>T (p.Leu402=)
c.955C>T (p.Leu319=)
c.863C>T (p.Pro288Leu)
n.1389C>T
c.1213C>T (p.Leu405=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300999_6301000insACACA2760284760WFS1c.1240_1241insACA (p.Leu414delinsHisMet)
c.1181_1182insACA
c.1204_1205insACA (p.Leu402delinsHisMet)
c.955_956insACA (p.Leu319delinsHisMet)
c.863_864insACA (p.Pro288_Gly289insHis)
n.1389_1390insACA
c.1213_1214insACA (p.Leu405delinsHisMet)
4g.6301000T>ACA356174460WFS1c.1241T>A (p.Leu414Gln)
c.1182T>A
c.1205T>A (p.Leu402Gln)
c.956T>A (p.Leu319Gln)
c.864T>A (p.Pro288=)
n.1390T>A
c.1214T>A (p.Leu405Gln)
4g.6301000T>CCA2839258WFS1c.1241T>C (p.Leu414Pro)
c.1182T>C
c.1205T>C (p.Leu402Pro)
c.956T>C (p.Leu319Pro)
c.864T>C (p.Pro288=)
n.1390T>C
c.1214T>C (p.Leu405Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301000T>GCA2839257WFS1c.1241T>G (p.Leu414Arg)
c.1182T>G
c.1205T>G (p.Leu402Arg)
c.956T>G (p.Leu319Arg)
c.864T>G (p.Pro288=)
n.1390T>G
c.1214T>G (p.Leu405Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301000T=CA1435772525WFS1c.1241T= (p.Leu414=)
c.1182T=
c.1205T= (p.Leu402=)
c.956T= (p.Leu319=)
c.864T= (p.Pro288=)
n.1390T=
c.1214T= (p.Leu405=)
4g.6301000dupCA549707906WFS1c.1241dup (p.Glu415GlyfsTer?)
c.1182dup
c.1205dup (p.Glu403GlyfsTer?)
c.956dup (p.Glu320GlyfsTer?)
c.864dup (p.Gly289TrpfsTer?)
n.1390dup
c.1214dup (p.Glu406GlyfsTer?)
dbSNP gnomAD v2 gnomAD v4
4g.6301001G>ACA438368168WFS1c.1242G>A (p.Leu414=)
c.1183G>A
c.1206G>A (p.Leu402=)
c.957G>A (p.Leu319=)
c.865G>A (p.Gly289Arg)
n.1391G>A
c.1215G>A (p.Leu405=)
4g.6301001G>CCA438368170WFS1c.1242G>C (p.Leu414=)
c.1183G>C
c.1206G>C (p.Leu402=)
c.957G>C (p.Leu319=)
c.865G>C (p.Gly289Arg)
n.1391G>C
c.1215G>C (p.Leu405=)
4g.6301001G>TCA438368171WFS1c.1242G>T (p.Leu414=)
c.1183G>T
c.1206G>T (p.Leu402=)
c.957G>T (p.Leu319=)
c.865G>T (p.Gly289Ter)
n.1391G>T
c.1215G>T (p.Leu405=)
4g.6301002delCA2760284764WFS1c.1243del (p.Glu415SerfsTer?)
c.1184del
c.1207del (p.Glu403SerfsTer?)
c.958del (p.Glu320SerfsTer?)
c.866del (p.Gly289GlufsTer?)
n.1392del
c.1216del (p.Glu406SerfsTer?)
4g.6301002G>ACA356174461WFS1c.1243G>A (p.Glu415Lys)
c.1184G>A
c.1207G>A (p.Glu403Lys)
c.958G>A (p.Glu320Lys)
c.866G>A (p.Gly289Glu)
n.1392G>A
c.1216G>A (p.Glu406Lys)
4g.6301002G>CCA356174462WFS1c.1243G>C (p.Glu415Gln)
c.1184G>C
c.1207G>C (p.Glu403Gln)
c.958G>C (p.Glu320Gln)
c.866G>C (p.Gly289Ala)
n.1392G>C
c.1216G>C (p.Glu406Gln)
dbSNP gnomAD v4
4g.6301002G=CA1435772527WFS1c.1243G= (p.Glu415=)
c.1184G=
c.1207G= (p.Glu403=)
c.958G= (p.Glu320=)
c.866G= (p.Gly289=)
n.1392G=
c.1216G= (p.Glu406=)
4g.6301002G>TCA356174463WFS1c.1243G>T (p.Glu415Ter)
c.1184G>T
c.1207G>T (p.Glu403Ter)
c.958G>T (p.Glu320Ter)
c.866G>T (p.Gly289Val)
n.1392G>T
c.1216G>T (p.Glu406Ter)
gnomAD v4
4g.6301003A>CCA356174464WFS1c.1244A>C (p.Glu415Ala)
c.1185A>C
c.1208A>C (p.Glu403Ala)
c.959A>C (p.Glu320Ala)
c.867A>C (p.Gly289=)
n.1393A>C
c.1217A>C (p.Glu406Ala)
4g.6301003A>GCA356174465WFS1c.1244A>G (p.Glu415Gly)
c.1185A>G
c.1208A>G (p.Glu403Gly)
c.959A>G (p.Glu320Gly)
c.867A>G (p.Gly289=)
n.1393A>G
c.1217A>G (p.Glu406Gly)
4g.6301003A>TCA356174466WFS1c.1244A>T (p.Glu415Val)
c.1185A>T
c.1208A>T (p.Glu403Val)
c.959A>T (p.Glu320Val)
c.867A>T (p.Gly289=)
n.1393A>T
c.1217A>T (p.Glu406Val)
4g.6301004G>ACA2839260WFS1c.1245G>A (p.Glu415=)
c.1186G>A
c.1209G>A (p.Glu403=)
c.960G>A (p.Glu320=)
c.868G>A (p.Ala290Thr)
n.1394G>A
c.1218G>A (p.Glu406=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301004G>CCA356174467WFS1c.1245G>C (p.Glu415Asp)
c.1186G>C
c.1209G>C (p.Glu403Asp)
c.960G>C (p.Glu320Asp)
c.868G>C (p.Ala290Pro)
n.1394G>C
c.1218G>C (p.Glu406Asp)
4g.6301004G=CA1435772529WFS1c.1245G= (p.Glu415=)
c.1186G=
c.1209G= (p.Glu403=)
c.960G= (p.Glu320=)
c.868G= (p.Ala290=)
n.1394G=
c.1218G= (p.Glu406=)
4g.6301004G>TCA2839259WFS1c.1245G>T (p.Glu415Asp)
c.1186G>T
c.1209G>T (p.Glu403Asp)
c.960G>T (p.Glu320Asp)
c.868G>T (p.Ala290Ser)
n.1394G>T
c.1218G>T (p.Glu406Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301005C>ACA356174468WFS1c.1246C>A (p.Pro416Thr)
c.1187C>A
c.1210C>A (p.Pro404Thr)
c.961C>A (p.Pro321Thr)
c.869C>A (p.Ala290Asp)
n.1395C>A
c.1219C>A (p.Pro407Thr)
4g.6301005C=CA1435772530WFS1c.1246C= (p.Pro416=)
c.1187C=
c.1210C= (p.Pro404=)
c.961C= (p.Pro321=)
c.869C= (p.Ala290=)
n.1395C=
c.1219C= (p.Pro407=)
4g.6301005C>GCA2839261WFS1c.1246C>G (p.Pro416Ala)
c.1187C>G
c.1210C>G (p.Pro404Ala)
c.961C>G (p.Pro321Ala)
c.869C>G (p.Ala290Gly)
n.1395C>G
c.1219C>G (p.Pro407Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301005C>TCA356174469WFS1c.1246C>T (p.Pro416Ser)
c.1187C>T
c.1210C>T (p.Pro404Ser)
c.961C>T (p.Pro321Ser)
c.869C>T (p.Ala290Val)
n.1395C>T
c.1219C>T (p.Pro407Ser)
4g.6301006C>ACA356174470WFS1c.1247C>A (p.Pro416His)
c.1188C>A
c.1211C>A (p.Pro404His)
c.962C>A (p.Pro321His)
c.870C>A (p.Ala290=)
n.1396C>A
c.1220C>A (p.Pro407His)
gnomAD v4
4g.6301006C=CA1435772533WFS1c.1247C= (p.Pro416=)
c.1188C=
c.1211C= (p.Pro404=)
c.962C= (p.Pro321=)
c.870C= (p.Ala290=)
n.1396C=
c.1220C= (p.Pro407=)
4g.6301006C>GCA356174471WFS1c.1247C>G (p.Pro416Arg)
c.1188C>G
c.1211C>G (p.Pro404Arg)
c.962C>G (p.Pro321Arg)
c.870C>G (p.Ala290=)
n.1396C>G
c.1220C>G (p.Pro407Arg)
dbSNP gnomAD v4
4g.6301006C>TCA91796235WFS1c.1247C>T (p.Pro416Leu)
c.1188C>T
c.1211C>T (p.Pro404Leu)
c.962C>T (p.Pro321Leu)
c.870C>T (p.Ala290=)
n.1396C>T
c.1220C>T (p.Pro407Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301006_6301007insACAACA2760284770WFS1c.1247_1248insACAA (p.Tyr417GlnfsTer?)
c.1188_1189insACAA
c.1211_1212insACAA (p.Tyr405GlnfsTer?)
c.962_963insACAA (p.Tyr322GlnfsTer?)
c.870_871insACAA (p.Leu291ThrfsTer?)
n.1396_1397insACAA
c.1220_1221insACAA (p.Tyr408GlnfsTer?)
4g.6301007C>ACA438368174WFS1c.1248C>A (p.Pro416=)
c.1189C>A
c.1212C>A (p.Pro404=)
c.963C>A (p.Pro321=)
c.871C>A (p.Leu291Ile)
n.1397C>A
c.1221C>A (p.Pro407=)
4g.6301007C=CA1435772536WFS1c.1248C= (p.Pro416=)
c.1189C=
c.1212C= (p.Pro404=)
c.963C= (p.Pro321=)
c.871C= (p.Leu291=)
n.1397C=
c.1221C= (p.Pro407=)
4g.6301007C>GCA2839263WFS1c.1248C>G (p.Pro416=)
c.1189C>G
c.1212C>G (p.Pro404=)
c.963C>G (p.Pro321=)
c.871C>G (p.Leu291Val)
n.1397C>G
c.1221C>G (p.Pro407=)
dbSNP ExAC gnomAD v4
4g.6301007C>TCA2839262WFS1c.1248C>T (p.Pro416=)
c.1189C>T
c.1212C>T (p.Pro404=)
c.963C>T (p.Pro321=)
c.871C>T (p.Leu291=)
n.1397C>T
c.1221C>T (p.Pro407=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301008T>ACA356174472WFS1c.1249T>A (p.Tyr417Asn)
c.1190T>A
c.1213T>A (p.Tyr405Asn)
c.964T>A (p.Tyr322Asn)
c.872T>A (p.Leu291Gln)
n.1398T>A
c.1222T>A (p.Tyr408Asn)
4g.6301008T>CCA356174473WFS1c.1249T>C (p.Tyr417His)
c.1190T>C
c.1213T>C (p.Tyr405His)
c.964T>C (p.Tyr322His)
c.872T>C (p.Leu291Pro)
n.1398T>C
c.1222T>C (p.Tyr408His)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301008T>GCA356174474WFS1c.1249T>G (p.Tyr417Asp)
c.1190T>G
c.1213T>G (p.Tyr405Asp)
c.964T>G (p.Tyr322Asp)
c.872T>G (p.Leu291Arg)
n.1398T>G
c.1222T>G (p.Tyr408Asp)
4g.6301008T=CA1435772538WFS1c.1249T= (p.Tyr417=)
c.1190T=
c.1213T= (p.Tyr405=)
c.964T= (p.Tyr322=)
c.872T= (p.Leu291=)
n.1398T=
c.1222T= (p.Tyr408=)
4g.6301009A=CA1435772540WFS1c.1250A= (p.Tyr417=)
c.1191A=
c.1214A= (p.Tyr405=)
c.965A= (p.Tyr322=)
c.873A= (p.Leu291=)
n.1399A=
c.1223A= (p.Tyr408=)
4g.6301009A>CCA356174475WFS1c.1250A>C (p.Tyr417Ser)
c.1191A>C
c.1214A>C (p.Tyr405Ser)
c.965A>C (p.Tyr322Ser)
c.873A>C (p.Leu291=)
n.1399A>C
c.1223A>C (p.Tyr408Ser)
gnomAD v4
4g.6301009A>GCA2839264WFS1c.1250A>G (p.Tyr417Cys)
c.1191A>G
c.1214A>G (p.Tyr405Cys)
c.965A>G (p.Tyr322Cys)
c.873A>G (p.Leu291=)
n.1399A>G
c.1223A>G (p.Tyr408Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301009A>TCA356174476WFS1c.1250A>T (p.Tyr417Phe)
c.1191A>T
c.1214A>T (p.Tyr405Phe)
c.965A>T (p.Tyr322Phe)
c.873A>T (p.Leu291=)
n.1399A>T
c.1223A>T (p.Tyr408Phe)
dbSNP
4g.6301010T>ACA356174477WFS1c.1251T>A (p.Tyr417Ter)
c.1192T>A
c.1215T>A (p.Tyr405Ter)
c.966T>A (p.Tyr322Ter)
c.874T>A (p.Cys292Ser)
n.1400T>A
c.1224T>A (p.Tyr408Ter)
4g.6301010T>CCA438368179WFS1c.1251T>C (p.Tyr417=)
c.1192T>C
c.1215T>C (p.Tyr405=)
c.966T>C (p.Tyr322=)
c.874T>C (p.Cys292Arg)
n.1400T>C
c.1224T>C (p.Tyr408=)
dbSNP gnomAD v2 gnomAD v4
4g.6301010T>GCA356174478WFS1c.1251T>G (p.Tyr417Ter)
c.1192T>G
c.1215T>G (p.Tyr405Ter)
c.966T>G (p.Tyr322Ter)
c.874T>G (p.Cys292Gly)
n.1400T>G
c.1224T>G (p.Tyr408Ter)
4g.6301010T=CA1435772542WFS1c.1251T= (p.Tyr417=)
c.1192T=
c.1215T= (p.Tyr405=)
c.966T= (p.Tyr322=)
c.874T= (p.Cys292=)
n.1400T=
c.1224T= (p.Tyr408=)
4g.6301010_6301011insAGACA2760284784WFS1c.1251_1252insAGA (p.Tyr417_Ala418insArg)
c.1192_1193insAGA
c.1215_1216insAGA (p.Tyr405_Ala406insArg)
c.966_967insAGA (p.Tyr322_Ala323insArg)
c.874_875insAGA (p.Cys292Ter)
n.1400_1401insAGA
c.1224_1225insAGA (p.Tyr408_Ala409insArg)
4g.6301011G>ACA91796236WFS1c.1252G>A (p.Ala418Thr)
c.1193G>A
c.1216G>A (p.Ala406Thr)
c.967G>A (p.Ala323Thr)
c.875G>A (p.Cys292Tyr)
n.1401G>A
c.1225G>A (p.Ala409Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301011G>CCA356174479WFS1c.1252G>C (p.Ala418Pro)
c.1193G>C
c.1216G>C (p.Ala406Pro)
c.967G>C (p.Ala323Pro)
c.875G>C (p.Cys292Ser)
n.1401G>C
c.1225G>C (p.Ala409Pro)
gnomAD v4
4g.6301011G=CA1435772543WFS1c.1252G= (p.Ala418=)
c.1193G=
c.1216G= (p.Ala406=)
c.967G= (p.Ala323=)
c.875G= (p.Cys292=)
n.1401G=
c.1225G= (p.Ala409=)
4g.6301011G>TCA356174480WFS1c.1252G>T (p.Ala418Ser)
c.1193G>T
c.1216G>T (p.Ala406Ser)
c.967G>T (p.Ala323Ser)
c.875G>T (p.Cys292Phe)
n.1401G>T
c.1225G>T (p.Ala409Ser)
4g.6301012C>ACA356174481WFS1c.1253C>A (p.Ala418Asp)
c.1194C>A
c.1217C>A (p.Ala406Asp)
c.968C>A (p.Ala323Asp)
c.876C>A (p.Cys292Ter)
n.1402C>A
c.1226C>A (p.Ala409Asp)
ClinVar dbSNP gnomAD v4
4g.6301012C=CA1435772546WFS1c.1253C= (p.Ala418=)
c.1194C=
c.1217C= (p.Ala406=)
c.968C= (p.Ala323=)
c.876C= (p.Cys292=)
n.1402C=
c.1226C= (p.Ala409=)
4g.6301012C>GCA356174482WFS1c.1253C>G (p.Ala418Gly)
c.1194C>G
c.1217C>G (p.Ala406Gly)
c.968C>G (p.Ala323Gly)
c.876C>G (p.Cys292Trp)
n.1402C>G
c.1226C>G (p.Ala409Gly)
gnomAD v4
4g.6301012C>TCA356174483WFS1c.1253C>T (p.Ala418Val)
c.1194C>T
c.1217C>T (p.Ala406Val)
c.968C>T (p.Ala323Val)
c.876C>T (p.Cys292=)
n.1402C>T
c.1226C>T (p.Ala409Val)
gnomAD v4
4g.6301013C>ACA438368184WFS1c.1254C>A (p.Ala418=)
c.1195C>A
c.1218C>A (p.Ala406=)
c.969C>A (p.Ala323=)
c.877C>A (p.Pro293Thr)
n.1403C>A
c.1227C>A (p.Ala409=)
dbSNP
4g.6301013C=CA1435772547WFS1c.1254C= (p.Ala418=)
c.1195C=
c.1218C= (p.Ala406=)
c.969C= (p.Ala323=)
c.877C= (p.Pro293=)
n.1403C=
c.1227C= (p.Ala409=)
4g.6301013C>GCA438368185WFS1c.1254C>G (p.Ala418=)
c.1195C>G
c.1218C>G (p.Ala406=)
c.969C>G (p.Ala323=)
c.877C>G (p.Pro293Ala)
n.1403C>G
c.1227C>G (p.Ala409=)
gnomAD v4
4g.6301013C>TCA438368186WFS1c.1254C>T (p.Ala418=)
c.1195C>T
c.1218C>T (p.Ala406=)
c.969C>T (p.Ala323=)
c.877C>T (p.Pro293Ser)
n.1403C>T
c.1227C>T (p.Ala409=)
ClinVar gnomAD v4
4g.6301014C>ACA356174484WFS1c.1255C>A (p.His419Asn)
c.1196C>A
c.1219C>A (p.His407Asn)
c.970C>A (p.His324Asn)
c.878C>A (p.Pro293Gln)
n.1404C>A
c.1228C>A (p.His410Asn)
4g.6301014C=CA1435772549WFS1c.1255C= (p.His419=)
c.1196C=
c.1219C= (p.His407=)
c.970C= (p.His324=)
c.878C= (p.Pro293=)
n.1404C=
c.1228C= (p.His410=)
4g.6301014C>GCA2839265WFS1c.1255C>G (p.His419Asp)
c.1196C>G
c.1219C>G (p.His407Asp)
c.970C>G (p.His324Asp)
c.878C>G (p.Pro293Arg)
n.1404C>G
c.1228C>G (p.His410Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301014C>TCA179639WFS1c.1255C>T (p.His419Tyr)
c.1196C>T
c.1219C>T (p.His407Tyr)
c.970C>T (p.His324Tyr)
c.878C>T (p.Pro293Leu)
n.1404C>T
c.1228C>T (p.His410Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301015A=CA1435772551WFS1c.1256A= (p.His419=)
c.1197A=
c.1220A= (p.His407=)
c.971A= (p.His324=)
c.879A= (p.Pro293=)
n.1405A=
c.1229A= (p.His410=)
4g.6301015A>CCA356174485WFS1c.1256A>C (p.His419Pro)
c.1197A>C
c.1220A>C (p.His407Pro)
c.971A>C (p.His324Pro)
c.879A>C (p.Pro293=)
n.1405A>C
c.1229A>C (p.His410Pro)
dbSNP gnomAD v3 gnomAD v4
4g.6301015A>GCA2839266WFS1c.1256A>G (p.His419Arg)
c.1197A>G
c.1220A>G (p.His407Arg)
c.971A>G (p.His324Arg)
c.879A>G (p.Pro293=)
n.1405A>G
c.1229A>G (p.His410Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301015A>TCA356174486WFS1c.1256A>T (p.His419Leu)
c.1197A>T
c.1220A>T (p.His407Leu)
c.971A>T (p.His324Leu)
c.879A>T (p.Pro293=)
n.1405A>T
c.1229A>T (p.His410Leu)
4g.6301016T>ACA356174487WFS1c.1257T>A (p.His419Gln)
c.1198T>A
c.1221T>A (p.His407Gln)
c.972T>A (p.His324Gln)
c.880T>A (p.Phe294Ile)
n.1406T>A
c.1230T>A (p.His410Gln)
4g.6301016T>CCA438368189WFS1c.1257T>C (p.His419=)
c.1198T>C
c.1221T>C (p.His407=)
c.972T>C (p.His324=)
c.880T>C (p.Phe294Leu)
n.1406T>C
c.1230T>C (p.His410=)
ClinVar dbSNP
4g.6301016T>GCA2839267WFS1c.1257T>G (p.His419Gln)
c.1198T>G
c.1221T>G (p.His407Gln)
c.972T>G (p.His324Gln)
c.880T>G (p.Phe294Val)
n.1406T>G
c.1230T>G (p.His410Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301016T=CA1435772553WFS1c.1257T= (p.His419=)
c.1198T=
c.1221T= (p.His407=)
c.972T= (p.His324=)
c.880T= (p.Phe294=)
n.1406T=
c.1230T= (p.His410=)
4g.6301017T>ACA356174488WFS1c.1258T>A (p.Phe420Ile)
c.1199T>A
c.1222T>A (p.Phe408Ile)
c.973T>A (p.Phe325Ile)
c.881T>A (p.Phe294Tyr)
n.1407T>A
c.1231T>A (p.Phe411Ile)
4g.6301017T>CCA356174490WFS1c.1258T>C (p.Phe420Leu)
c.1199T>C
c.1222T>C (p.Phe408Leu)
c.973T>C (p.Phe325Leu)
c.881T>C (p.Phe294Ser)
n.1407T>C
c.1231T>C (p.Phe411Leu)
4g.6301017T>GCA356174489WFS1c.1258T>G (p.Phe420Val)
c.1199T>G
c.1222T>G (p.Phe408Val)
c.973T>G (p.Phe325Val)
c.881T>G (p.Phe294Cys)
n.1407T>G
c.1231T>G (p.Phe411Val)
4g.6301018T>ACA356174491WFS1c.1259T>A (p.Phe420Tyr)
c.1200T>A
c.1223T>A (p.Phe408Tyr)
c.974T>A (p.Phe325Tyr)
c.882T>A (p.Phe294Leu)
n.1408T>A
c.1232T>A (p.Phe411Tyr)
4g.6301018T>CCA356174492WFS1c.1259T>C (p.Phe420Ser)
c.1200T>C
c.1223T>C (p.Phe408Ser)
c.974T>C (p.Phe325Ser)
c.882T>C (p.Phe294=)
n.1408T>C
c.1232T>C (p.Phe411Ser)
4g.6301018T>GCA356174493WFS1c.1259T>G (p.Phe420Cys)
c.1200T>G
c.1223T>G (p.Phe408Cys)
c.974T>G (p.Phe325Cys)
c.882T>G (p.Phe294Leu)
n.1408T>G
c.1232T>G (p.Phe411Cys)
dbSNP
4g.6301018T=CA1435772555WFS1c.1259T= (p.Phe420=)
c.1200T=
c.1223T= (p.Phe408=)
c.974T= (p.Phe325=)
c.882T= (p.Phe294=)
n.1408T=
c.1232T= (p.Phe411=)
4g.6301019C>ACA356174494WFS1c.1260C>A (p.Phe420Leu)
c.1201C>A
c.1224C>A (p.Phe408Leu)
c.975C>A (p.Phe325Leu)
c.883C>A (p.Pro295Thr)
n.1409C>A
c.1233C>A (p.Phe411Leu)
4g.6301019C=CA1435772560WFS1c.1260C= (p.Phe420=)
c.1201C=
c.1224C= (p.Phe408=)
c.975C= (p.Phe325=)
c.883C= (p.Pro295=)
n.1409C=
c.1233C= (p.Phe411=)
4g.6301019C>GCA356174495WFS1c.1260C>G (p.Phe420Leu)
c.1201C>G
c.1224C>G (p.Phe408Leu)
c.975C>G (p.Phe325Leu)
c.883C>G (p.Pro295Ala)
n.1409C>G
c.1233C>G (p.Phe411Leu)
4g.6301019C>TCA2839268WFS1c.1260C>T (p.Phe420=)
c.1201C>T
c.1224C>T (p.Phe408=)
c.975C>T (p.Phe325=)
c.883C>T (p.Pro295Ser)
n.1409C>T
c.1233C>T (p.Phe411=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301020C>ACA356174496WFS1c.1261C>A (p.Leu421Met)
c.1202C>A
c.1225C>A (p.Leu409Met)
c.976C>A (p.Leu326Met)
c.884C>A (p.Pro295His)
n.1410C>A
c.1234C>A (p.Leu412Met)
4g.6301020C=CA1435772561WFS1c.1261C= (p.Leu421=)
c.1202C=
c.1225C= (p.Leu409=)
c.976C= (p.Leu326=)
c.884C= (p.Pro295=)
n.1410C=
c.1234C= (p.Leu412=)
4g.6301020C>GCA356174497WFS1c.1261C>G (p.Leu421Val)
c.1202C>G
c.1225C>G (p.Leu409Val)
c.976C>G (p.Leu326Val)
c.884C>G (p.Pro295Arg)
n.1410C>G
c.1234C>G (p.Leu412Val)
4g.6301020C>TCA2839269WFS1c.1261C>T (p.Leu421=)
c.1202C>T
c.1225C>T (p.Leu409=)
c.976C>T (p.Leu326=)
c.884C>T (p.Pro295Leu)
n.1410C>T
c.1234C>T (p.Leu412=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301021T>ACA356174498WFS1c.1262T>A (p.Leu421Gln)
c.1203T>A
c.1226T>A (p.Leu409Gln)
c.977T>A (p.Leu326Gln)
c.885T>A (p.Pro295=)
n.1411T>A
c.1235T>A (p.Leu412Gln)
4g.6301021T>CCA356174499WFS1c.1262T>C (p.Leu421Pro)
c.1203T>C
c.1226T>C (p.Leu409Pro)
c.977T>C (p.Leu326Pro)
c.885T>C (p.Pro295=)
n.1411T>C
c.1235T>C (p.Leu412Pro)
4g.6301021T>GCA356174500WFS1c.1262T>G (p.Leu421Arg)
c.1203T>G
c.1226T>G (p.Leu409Arg)
c.977T>G (p.Leu326Arg)
c.885T>G (p.Pro295=)
n.1411T>G
c.1235T>G (p.Leu412Arg)
4g.6301022G>ACA2839271WFS1c.1263G>A (p.Leu421=)
c.1204G>A
c.1227G>A (p.Leu409=)
c.978G>A (p.Leu326=)
c.886G>A (p.Ala296Thr)
n.1412G>A
c.1236G>A (p.Leu412=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301022G>CCA91796237WFS1c.1263G>C (p.Leu421=)
c.1204G>C
c.1227G>C (p.Leu409=)
c.978G>C (p.Leu326=)
c.886G>C (p.Ala296Pro)
n.1412G>C
c.1236G>C (p.Leu412=)
dbSNP gnomAD v4
4g.6301022G=CA1435772565WFS1c.1263G= (p.Leu421=)
c.1204G=
c.1227G= (p.Leu409=)
c.978G= (p.Leu326=)
c.886G= (p.Ala296=)
n.1412G=
c.1236G= (p.Leu412=)
4g.6301022G>TCA438368192WFS1c.1263G>T (p.Leu421=)
c.1204G>T
c.1227G>T (p.Leu409=)
c.978G>T (p.Leu326=)
c.886G>T (p.Ala296Ser)
n.1412G>T
c.1236G>T (p.Leu412=)
4g.6301022_6301026delinsGCTCTCA1435772566WFS1c.1263_1267delinsGCTCT (p.Leu421=)
c.1204_1208delinsGCTCT
c.1227_1231delinsGCTCT (p.Leu409=)
c.978_982delinsGCTCT (p.Leu326=)
c.886_890delinsGCTCT (p.Ala296=)
n.1412_1416delinsGCTCT
c.1236_1240delinsGCTCT (p.Leu412=)
4g.6301023delCA2586973610WFS1c.1264del (p.Leu422SerfsTer?)
c.1205del
c.1228del (p.Leu410SerfsTer?)
c.979del (p.Leu327SerfsTer?)
c.887del (p.Ala296ValfsTer?)
n.1413del
c.1237del (p.Leu413SerfsTer?)
gnomAD v4
4g.6301023C>ACA356174501WFS1c.1264C>A (p.Leu422Ile)
c.1205C>A
c.1228C>A (p.Leu410Ile)
c.979C>A (p.Leu327Ile)
c.887C>A (p.Ala296Asp)
n.1413C>A
c.1237C>A (p.Leu413Ile)
4g.6301023C=CA1435772571WFS1c.1264C= (p.Leu422=)
c.1205C=
c.1228C= (p.Leu410=)
c.979C= (p.Leu327=)
c.887C= (p.Ala296=)
n.1413C=
c.1237C= (p.Leu413=)
4g.6301023C>GCA356174502WFS1c.1264C>G (p.Leu422Val)
c.1205C>G
c.1228C>G (p.Leu410Val)
c.979C>G (p.Leu327Val)
c.887C>G (p.Ala296Gly)
n.1413C>G
c.1237C>G (p.Leu413Val)
gnomAD v4
4g.6301023C>TCA91796238WFS1c.1264C>T (p.Leu422Phe)
c.1205C>T
c.1228C>T (p.Leu410Phe)
c.979C>T (p.Leu327Phe)
c.887C>T (p.Ala296Val)
n.1413C>T
c.1237C>T (p.Leu413Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301027_6301028delCA549707907WFS1c.1268_1269del (p.Ser423CysfsTer?)
c.1209_1210del
c.1232_1233del (p.Ser411CysfsTer?)
c.983_984del (p.Ser328CysfsTer?)
c.891_892del (p.Cys298SerfsTer?)
n.1417_1418del
c.1241_1242del (p.Ser414CysfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301025_6301028delCA2839270WFS1c.1266_1269del (p.Val424SerfsTer?)
c.1207_1210del
c.1230_1233del (p.Val412SerfsTer?)
c.981_984del (p.Val329SerfsTer?)
c.889_892del (p.Leu297ValfsTer?)
n.1415_1418del
c.1239_1242del (p.Val415SerfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301024T>ACA356174503WFS1c.1265T>A (p.Leu422His)
c.1206T>A
c.1229T>A (p.Leu410His)
c.980T>A (p.Leu327His)
c.888T>A (p.Ala296=)
n.1414T>A
c.1238T>A (p.Leu413His)
4g.6301024T>CCA356174504WFS1c.1265T>C (p.Leu422Pro)
c.1206T>C
c.1229T>C (p.Leu410Pro)
c.980T>C (p.Leu327Pro)
c.888T>C (p.Ala296=)
n.1414T>C
c.1238T>C (p.Leu413Pro)
gnomAD v4
4g.6301024T>GCA356174505WFS1c.1265T>G (p.Leu422Arg)
c.1206T>G
c.1229T>G (p.Leu410Arg)
c.980T>G (p.Leu327Arg)
c.888T>G (p.Ala296=)
n.1414T>G
c.1238T>G (p.Leu413Arg)
4g.6301025C>ACA438368196WFS1c.1266C>A (p.Leu422=)
c.1207C>A
c.1230C>A (p.Leu410=)
c.981C>A (p.Leu327=)
c.889C>A (p.Leu297Ile)
n.1415C>A
c.1239C>A (p.Leu413=)
4g.6301025C=CA1435772574WFS1c.1266C= (p.Leu422=)
c.1207C=
c.1230C= (p.Leu410=)
c.981C= (p.Leu327=)
c.889C= (p.Leu297=)
n.1415C=
c.1239C= (p.Leu413=)
4g.6301025C>GCA2839272WFS1c.1266C>G (p.Leu422=)
c.1207C>G
c.1230C>G (p.Leu410=)
c.981C>G (p.Leu327=)
c.889C>G (p.Leu297Val)
n.1415C>G
c.1239C>G (p.Leu413=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301025C>TCA2839273WFS1c.1266C>T (p.Leu422=)
c.1207C>T
c.1230C>T (p.Leu410=)
c.981C>T (p.Leu327=)
c.889C>T (p.Leu297Phe)
n.1415C>T
c.1239C>T (p.Leu413=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301025_6301029delinsCTCTGCA1435772573WFS1c.1266_1270delinsCTCTG (p.Leu422=)
c.1207_1211delinsCTCTG
c.1230_1234delinsCTCTG (p.Leu410=)
c.981_985delinsCTCTG (p.Leu327=)
c.889_893delinsCTCTG (p.Leu297=)
n.1415_1419delinsCTCTG
c.1239_1243delinsCTCTG (p.Leu413=)
4g.6301026T>ACA356174506WFS1c.1267T>A (p.Ser423Thr)
c.1208T>A
c.1231T>A (p.Ser411Thr)
c.982T>A (p.Ser328Thr)
c.890T>A (p.Leu297His)
n.1416T>A
c.1240T>A (p.Ser414Thr)
4g.6301026T>CCA356174507WFS1c.1267T>C (p.Ser423Pro)
c.1208T>C
c.1231T>C (p.Ser411Pro)
c.982T>C (p.Ser328Pro)
c.890T>C (p.Leu297Pro)
n.1416T>C
c.1240T>C (p.Ser414Pro)
dbSNP gnomAD v2 gnomAD v4
4g.6301026T>GCA356174508WFS1c.1267T>G (p.Ser423Ala)
c.1208T>G
c.1231T>G (p.Ser411Ala)
c.982T>G (p.Ser328Ala)
c.890T>G (p.Leu297Arg)
n.1416T>G
c.1240T>G (p.Ser414Ala)
4g.6301026T=CA1435772577WFS1c.1267T= (p.Ser423=)
c.1208T=
c.1231T= (p.Ser411=)
c.982T= (p.Ser328=)
c.890T= (p.Leu297=)
n.1416T=
c.1240T= (p.Ser414=)
4g.6301029_6301032delCA2839274WFS1c.1270_1273del (p.Val424SerfsTer29)
c.1211_1214del
c.1234_1237del (p.Val412SerfsTer29)
c.985_988del (p.Val329SerfsTer29)
c.893_896del (p.Cys298PhefsTer?)
n.1419_1422del
c.1243_1246del (p.Val415SerfsTer29)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301027C>ACA356174509WFS1c.1268C>A (p.Ser423Tyr)
c.1209C>A
c.1232C>A (p.Ser411Tyr)
c.983C>A (p.Ser328Tyr)
c.891C>A (p.Leu297=)
n.1417C>A
c.1241C>A (p.Ser414Tyr)
gnomAD v4
4g.6301027C=CA1435772579WFS1c.1268C= (p.Ser423=)
c.1209C=
c.1232C= (p.Ser411=)
c.983C= (p.Ser328=)
c.891C= (p.Leu297=)
n.1417C=
c.1241C= (p.Ser414=)
4g.6301027C>GCA356174510WFS1c.1268C>G (p.Ser423Cys)
c.1209C>G
c.1232C>G (p.Ser411Cys)
c.983C>G (p.Ser328Cys)
c.891C>G (p.Leu297=)
n.1417C>G
c.1241C>G (p.Ser414Cys)
ClinVar gnomAD v4
4g.6301027C>TCA91796239WFS1c.1268C>T (p.Ser423Phe)
c.1209C>T
c.1232C>T (p.Ser411Phe)
c.983C>T (p.Ser328Phe)
c.891C>T (p.Leu297=)
n.1417C>T
c.1241C>T (p.Ser414Phe)
ClinVar dbSNP gnomAD v4 COSMIC
4g.6301028T>ACA438368198WFS1c.1269T>A (p.Ser423=)
c.1210T>A
c.1233T>A (p.Ser411=)
c.984T>A (p.Ser328=)
c.892T>A (p.Cys298Ser)
n.1418T>A
c.1242T>A (p.Ser414=)
4g.6301028T>CCA438368199WFS1c.1269T>C (p.Ser423=)
c.1210T>C
c.1233T>C (p.Ser411=)
c.984T>C (p.Ser328=)
c.892T>C (p.Cys298Arg)
n.1418T>C
c.1242T>C (p.Ser414=)
4g.6301028T>GCA2839275WFS1c.1269T>G (p.Ser423=)
c.1210T>G
c.1233T>G (p.Ser411=)
c.984T>G (p.Ser328=)
c.892T>G (p.Cys298Gly)
n.1418T>G
c.1242T>G (p.Ser414=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301028T=CA1435772582WFS1c.1269T= (p.Ser423=)
c.1210T=
c.1233T= (p.Ser411=)
c.984T= (p.Ser328=)
c.892T= (p.Cys298=)
n.1418T=
c.1242T= (p.Ser414=)
4g.6301028_6301037delinsTGTCTTCTTCCA1435772583WFS1c.1269_1278delinsTGTCTTCTTC (p.Ser423=)
c.1210_1219delinsTGTCTTCTTC
c.1233_1242delinsTGTCTTCTTC (p.Ser411=)
c.984_993delinsTGTCTTCTTC (p.Ser328=)
c.892_901delinsTGTCTTCTTC (p.Cys298=)
n.1418_1427delinsTGTCTTCTTC
c.1242_1251delinsTGTCTTCTTC (p.Ser414=)
4g.6301029G>ACA2839276WFS1c.1270G>A (p.Val424Ile)
c.1211G>A
c.1234G>A (p.Val412Ile)
c.985G>A (p.Val329Ile)
c.893G>A (p.Cys298Tyr)
n.1419G>A
c.1243G>A (p.Val415Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301029G>CCA232842WFS1c.1270G>C (p.Val424Leu)
c.1211G>C
c.1234G>C (p.Val412Leu)
c.985G>C (p.Val329Leu)
c.893G>C (p.Cys298Ser)
n.1419G>C
c.1243G>C (p.Val415Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301029G=CA1435772587WFS1c.1270G= (p.Val424=)
c.1211G=
c.1234G= (p.Val412=)
c.985G= (p.Val329=)
c.893G= (p.Cys298=)
n.1419G=
c.1243G= (p.Val415=)
4g.6301029G>TCA356174511WFS1c.1270G>T (p.Val424Phe)
c.1211G>T
c.1234G>T (p.Val412Phe)
c.985G>T (p.Val329Phe)
c.893G>T (p.Cys298Phe)
n.1419G>T
c.1243G>T (p.Val415Phe)
4g.6301029_6301032delinsGTCTCA1435772590WFS1c.1270_1273delinsGTCT (p.Val424=)
c.1211_1214delinsGTCT
c.1234_1237delinsGTCT (p.Val412=)
c.985_988delinsGTCT (p.Val329=)
c.893_896delinsGTCT (p.Cys298=)
n.1419_1422delinsGTCT
c.1243_1246delinsGTCT (p.Val415=)
4g.6301032_6301040delCA1435772586WFS1c.1273_1281del (p.Phe425_Val427del)
c.1214_1222del
c.1237_1245del (p.Phe413_Val415del)
c.988_996del (p.Phe330_Val332del)
c.896_904del (p.Leu299_Arg301del)
n.1422_1430del
c.1246_1254del (p.Phe416_Val418del)
dbSNP
4g.6301030T>ACA2839277WFS1c.1271T>A (p.Val424Asp)
c.1212T>A
c.1235T>A (p.Val412Asp)
c.986T>A (p.Val329Asp)
c.894T>A (p.Cys298Ter)
n.1420T>A
c.1244T>A (p.Val415Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301030T>CCA322524WFS1c.1271T>C (p.Val424Ala)
c.1212T>C
c.1235T>C (p.Val412Ala)
c.986T>C (p.Val329Ala)
c.894T>C (p.Cys298=)
n.1420T>C
c.1244T>C (p.Val415Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301030T>GCA356174512WFS1c.1271T>G (p.Val424Gly)
c.1212T>G
c.1235T>G (p.Val412Gly)
c.986T>G (p.Val329Gly)
c.894T>G (p.Cys298Trp)
n.1420T>G
c.1244T>G (p.Val415Gly)
gnomAD v4
4g.6301030T=CA1435772595WFS1c.1271T= (p.Val424=)
c.1212T=
c.1235T= (p.Val412=)
c.986T= (p.Val329=)
c.894T= (p.Cys298=)
n.1420T=
c.1244T= (p.Val415=)
4g.6301035_6301037delCA277124WFS1c.1276_1278del (p.Phe426del)
c.1217_1219del
c.1240_1242del (p.Phe414del)
c.991_993del (p.Phe331del)
c.899_901del (p.Leu300del)
n.1425_1427del
c.1249_1251del (p.Phe417del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301031C>ACA438368202WFS1c.1272C>A (p.Val424=)
c.1213C>A
c.1236C>A (p.Val412=)
c.987C>A (p.Val329=)
c.895C>A (p.Leu299Ile)
n.1421C>A
c.1245C>A (p.Val415=)
4g.6301031C=CA1435772598WFS1c.1272C= (p.Val424=)
c.1213C=
c.1236C= (p.Val412=)
c.987C= (p.Val329=)
c.895C= (p.Leu299=)
n.1421C=
c.1245C= (p.Val415=)
4g.6301031C>GCA438368203WFS1c.1272C>G (p.Val424=)
c.1213C>G
c.1236C>G (p.Val412=)
c.987C>G (p.Val329=)
c.895C>G (p.Leu299Val)
n.1421C>G
c.1245C>G (p.Val415=)
4g.6301031C>TCA2839278WFS1c.1272C>T (p.Val424=)
c.1213C>T
c.1236C>T (p.Val412=)
c.987C>T (p.Val329=)
c.895C>T (p.Leu299Phe)
n.1421C>T
c.1245C>T (p.Val415=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301032T>ACA356174513WFS1c.1273T>A (p.Phe425Ile)
c.1214T>A
c.1237T>A (p.Phe413Ile)
c.988T>A (p.Phe330Ile)
c.896T>A (p.Leu299His)
n.1422T>A
c.1246T>A (p.Phe416Ile)
4g.6301032T>CCA356174514WFS1c.1273T>C (p.Phe425Leu)
c.1214T>C
c.1237T>C (p.Phe413Leu)
c.988T>C (p.Phe330Leu)
c.896T>C (p.Leu299Pro)
n.1422T>C
c.1246T>C (p.Phe416Leu)
gnomAD v4
4g.6301032T>GCA179641WFS1c.1273T>G (p.Phe425Val)
c.1214T>G
c.1237T>G (p.Phe413Val)
c.988T>G (p.Phe330Val)
c.896T>G (p.Leu299Arg)
n.1422T>G
c.1246T>G (p.Phe416Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301032T=CA1435772601WFS1c.1273T= (p.Phe425=)
c.1214T=
c.1237T= (p.Phe413=)
c.988T= (p.Phe330=)
c.896T= (p.Leu299=)
n.1422T=
c.1246T= (p.Phe416=)
4g.6301032_6301033insAGCA2760284853WFS1c.1273_1274insAG (p.Phe425Ter)
c.1214_1215insAG
c.1237_1238insAG (p.Phe413Ter)
c.988_989insAG (p.Phe330Ter)
c.896_897insAG (p.Leu300ValfsTer?)
n.1422_1423insAG
c.1246_1247insAG (p.Phe416Ter)
4g.6301033T>ACA356174515WFS1c.1274T>A (p.Phe425Tyr)
c.1215T>A
c.1238T>A (p.Phe413Tyr)
c.989T>A (p.Phe330Tyr)
c.897T>A (p.Leu299=)
n.1423T>A
c.1247T>A (p.Phe416Tyr)
4g.6301033T>CCA356174516WFS1c.1274T>C (p.Phe425Ser)
c.1215T>C
c.1238T>C (p.Phe413Ser)
c.989T>C (p.Phe330Ser)
c.897T>C (p.Leu299=)
n.1423T>C
c.1247T>C (p.Phe416Ser)
4g.6301033T>GCA356174517WFS1c.1274T>G (p.Phe425Cys)
c.1215T>G
c.1238T>G (p.Phe413Cys)
c.989T>G (p.Phe330Cys)
c.897T>G (p.Leu299=)
n.1423T>G
c.1247T>G (p.Phe416Cys)
4g.6301034_6301035dupCA1435772604WFS1c.1275_1276dup (p.Phe426SerfsTer29)
c.1216_1217dup
c.1239_1240dup (p.Phe414SerfsTer29)
c.990_991dup (p.Phe331SerfsTer29)
c.898_899dup (p.Arg301PhefsTer?)
n.1424_1425dup
c.1248_1249dup (p.Phe417SerfsTer29)
dbSNP
4g.6301038_6301046dupCA2573052346WFS1c.1279_1287dup (p.Phe429_Ser430insValIlePhe)
c.1220_1228dup
c.1243_1251dup (p.Phe417_Ser418insValIlePhe)
c.994_1002dup (p.Phe334_Ser335insValIlePhe)
c.902_910dup (p.Leu303_Leu304insArgHisLeu)
n.1428_1436dup
c.1252_1260dup (p.Phe420_Ser421insValIlePhe)
ClinVar dbSNP
4g.6301034C>ACA356174518WFS1c.1275C>A (p.Phe425Leu)
c.1216C>A
c.1239C>A (p.Phe413Leu)
c.990C>A (p.Phe330Leu)
c.898C>A (p.Leu300Ile)
n.1424C>A
c.1248C>A (p.Phe416Leu)
4g.6301034C=CA1435772606WFS1c.1275C= (p.Phe425=)
c.1216C=
c.1239C= (p.Phe413=)
c.990C= (p.Phe330=)
c.898C= (p.Leu300=)
n.1424C=
c.1248C= (p.Phe416=)
4g.6301034C>GCA356174519WFS1c.1275C>G (p.Phe425Leu)
c.1216C>G
c.1239C>G (p.Phe413Leu)
c.990C>G (p.Phe330Leu)
c.898C>G (p.Leu300Val)
n.1424C>G
c.1248C>G (p.Phe416Leu)
4g.6301034C>TCA438368206WFS1c.1275C>T (p.Phe425=)
c.1216C>T
c.1239C>T (p.Phe413=)
c.990C>T (p.Phe330=)
c.898C>T (p.Leu300Phe)
n.1424C>T
c.1248C>T (p.Phe416=)
ClinVar dbSNP gnomAD v4
4g.6301035T>ACA356174520WFS1c.1276T>A (p.Phe426Ile)
c.1217T>A
c.1240T>A (p.Phe414Ile)
c.991T>A (p.Phe331Ile)
c.899T>A (p.Leu300His)
n.1425T>A
c.1249T>A (p.Phe417Ile)
4g.6301035T>CCA2839279WFS1c.1276T>C (p.Phe426Leu)
c.1217T>C
c.1240T>C (p.Phe414Leu)
c.991T>C (p.Phe331Leu)
c.899T>C (p.Leu300Pro)
n.1425T>C
c.1249T>C (p.Phe417Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301035T>GCA356174521WFS1c.1276T>G (p.Phe426Val)
c.1217T>G
c.1240T>G (p.Phe414Val)
c.991T>G (p.Phe331Val)
c.899T>G (p.Leu300Arg)
n.1425T>G
c.1249T>G (p.Phe417Val)
gnomAD v4
4g.6301035T=CA1435772609WFS1c.1276T= (p.Phe426=)
c.1217T=
c.1240T= (p.Phe414=)
c.991T= (p.Phe331=)
c.899T= (p.Leu300=)
n.1425T=
c.1249T= (p.Phe417=)
4g.6301035_6301038delinsTTCGCA1435772608WFS1c.1276_1279delinsTTCG (p.Phe426=)
c.1217_1220delinsTTCG
c.1240_1243delinsTTCG (p.Phe414=)
c.991_994delinsTTCG (p.Phe331=)
c.899_902delinsTTCG (p.Leu300=)
n.1425_1428delinsTTCG
c.1249_1252delinsTTCG (p.Phe417=)
4g.6301036T>ACA356174522WFS1c.1277T>A (p.Phe426Tyr)
c.1218T>A
c.1241T>A (p.Phe414Tyr)
c.992T>A (p.Phe331Tyr)
c.900T>A (p.Leu300=)
n.1426T>A
c.1250T>A (p.Phe417Tyr)
4g.6301036T>CCA356174523WFS1c.1277T>C (p.Phe426Ser)
c.1218T>C
c.1241T>C (p.Phe414Ser)
c.992T>C (p.Phe331Ser)
c.900T>C (p.Leu300=)
n.1426T>C
c.1250T>C (p.Phe417Ser)
4g.6301036T>GCA356174524WFS1c.1277T>G (p.Phe426Cys)
c.1218T>G
c.1241T>G (p.Phe414Cys)
c.992T>G (p.Phe331Cys)
c.900T>G (p.Leu300=)
n.1426T>G
c.1250T>G (p.Phe417Cys)
4g.6301038_6301040delCA324375WFS1c.1279_1281del (p.Val427del)
c.1220_1222del
c.1243_1245del (p.Val415del)
c.994_996del (p.Val332del)
c.902_904del (p.Arg301del)
n.1428_1430del
c.1252_1254del (p.Val418del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301037C>ACA356174525WFS1c.1278C>A (p.Phe426Leu)
c.1219C>A
c.1242C>A (p.Phe414Leu)
c.993C>A (p.Phe331Leu)
c.901C>A (p.Arg301Ser)
n.1427C>A
c.1251C>A (p.Phe417Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301037C=CA1435772613WFS1c.1278C= (p.Phe426=)
c.1219C=
c.1242C= (p.Phe414=)
c.993C= (p.Phe331=)
c.901C= (p.Arg301=)
n.1427C=
c.1251C= (p.Phe417=)
4g.6301037C>GCA356174526WFS1c.1278C>G (p.Phe426Leu)
c.1219C>G
c.1242C>G (p.Phe414Leu)
c.993C>G (p.Phe331Leu)
c.901C>G (p.Arg301Gly)
n.1427C>G
c.1251C>G (p.Phe417Leu)
4g.6301037C>TCA2839280WFS1c.1278C>T (p.Phe426=)
c.1219C>T
c.1242C>T (p.Phe414=)
c.993C>T (p.Phe331=)
c.901C>T (p.Arg301Cys)
n.1427C>T
c.1251C>T (p.Phe417=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301038G>ACA2839281WFS1c.1279G>A (p.Val427Ile)
c.1220G>A
c.1243G>A (p.Val415Ile)
c.994G>A (p.Val332Ile)
c.902G>A (p.Arg301His)
n.1428G>A
c.1252G>A (p.Val418Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301038G>CCA2839282WFS1c.1279G>C (p.Val427Leu)
c.1220G>C
c.1243G>C (p.Val415Leu)
c.994G>C (p.Val332Leu)
c.902G>C (p.Arg301Pro)
n.1428G>C
c.1252G>C (p.Val418Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301038G=CA1435772615WFS1c.1279G= (p.Val427=)
c.1220G=
c.1243G= (p.Val415=)
c.994G= (p.Val332=)
c.902G= (p.Arg301=)
n.1428G=
c.1252G= (p.Val418=)
4g.6301038G>TCA356174527WFS1c.1279G>T (p.Val427Phe)
c.1220G>T
c.1243G>T (p.Val415Phe)
c.994G>T (p.Val332Phe)
c.902G>T (p.Arg301Leu)
n.1428G>T
c.1252G>T (p.Val418Phe)
ClinVar dbSNP
4g.6301039T>ACA356174529WFS1c.1280T>A (p.Val427Asp)
c.1221T>A
c.1244T>A (p.Val415Asp)
c.995T>A (p.Val332Asp)
c.903T>A (p.Arg301=)
n.1429T>A
c.1253T>A (p.Val418Asp)
4g.6301039T>CCA356174528WFS1c.1280T>C (p.Val427Ala)
c.1221T>C
c.1244T>C (p.Val415Ala)
c.995T>C (p.Val332Ala)
c.903T>C (p.Arg301=)
n.1429T>C
c.1253T>C (p.Val418Ala)
4g.6301039T>GCA356174530WFS1c.1280T>G (p.Val427Gly)
c.1221T>G
c.1244T>G (p.Val415Gly)
c.995T>G (p.Val332Gly)
c.903T>G (p.Arg301=)
n.1429T>G
c.1253T>G (p.Val418Gly)
4g.6301040C>ACA438368211WFS1c.1281C>A (p.Val427=)
c.1222C>A
c.1245C>A (p.Val415=)
c.996C>A (p.Val332=)
c.904C>A (p.His302Asn)
n.1430C>A
c.1254C>A (p.Val418=)
4g.6301040C=CA1435772617WFS1c.1281C= (p.Val427=)
c.1222C=
c.1245C= (p.Val415=)
c.996C= (p.Val332=)
c.904C= (p.His302=)
n.1430C=
c.1254C= (p.Val418=)
4g.6301040C>GCA438368212WFS1c.1281C>G (p.Val427=)
c.1222C>G
c.1245C>G (p.Val415=)
c.996C>G (p.Val332=)
c.904C>G (p.His302Asp)
n.1430C>G
c.1254C>G (p.Val418=)
4g.6301040C>TCA438368213WFS1c.1281C>T (p.Val427=)
c.1222C>T
c.1245C>T (p.Val415=)
c.996C>T (p.Val332=)
c.904C>T (p.His302Tyr)
n.1430C>T
c.1254C>T (p.Val418=)
dbSNP gnomAD v3 gnomAD v4
4g.6301044_6301058dupCA2669843420WFS1c.1285_1299dup (p.Ile433_Ala434insPheSerPheProIle)
c.1226_1240dup
c.1249_1263dup (p.Ile421_Ala422insPheSerPheProIle)
c.1000_1014dup (p.Ile338_Ala339insPheSerPheProIle)
c.908_922dup (p.His307_Arg308insLeuLeuLeuProHis)
n.1434_1448dup
c.1258_1272dup (p.Ile424_Ala425insPheSerPheProIle)
gnomAD v4
4g.6301041A=CA1435772619WFS1c.1282A= (p.Ile428=)
c.1223A=
c.1246A= (p.Ile416=)
c.997A= (p.Ile333=)
c.905A= (p.His302=)
n.1431A=
c.1255A= (p.Ile419=)
4g.6301041A>CCA91796240WFS1c.1282A>C (p.Ile428Leu)
c.1223A>C
c.1246A>C (p.Ile416Leu)
c.997A>C (p.Ile333Leu)
c.905A>C (p.His302Pro)
n.1431A>C
c.1255A>C (p.Ile419Leu)
dbSNP
4g.6301041A>GCA356174532WFS1c.1282A>G (p.Ile428Val)
c.1223A>G
c.1246A>G (p.Ile416Val)
c.997A>G (p.Ile333Val)
c.905A>G (p.His302Arg)
n.1431A>G
c.1255A>G (p.Ile419Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301041A>TCA356174531WFS1c.1282A>T (p.Ile428Phe)
c.1223A>T
c.1246A>T (p.Ile416Phe)
c.997A>T (p.Ile333Phe)
c.905A>T (p.His302Leu)
n.1431A>T
c.1255A>T (p.Ile419Phe)
4g.6301042T>ACA356174533WFS1c.1283T>A (p.Ile428Asn)
c.1224T>A
c.1247T>A (p.Ile416Asn)
c.998T>A (p.Ile333Asn)
c.906T>A (p.His302Gln)
n.1432T>A
c.1256T>A (p.Ile419Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301042T>CCA356174535WFS1c.1283T>C (p.Ile428Thr)
c.1224T>C
c.1247T>C (p.Ile416Thr)
c.998T>C (p.Ile333Thr)
c.906T>C (p.His302=)
n.1432T>C
c.1256T>C (p.Ile419Thr)
gnomAD v4
4g.6301042T>GCA356174534WFS1c.1283T>G (p.Ile428Ser)
c.1224T>G
c.1247T>G (p.Ile416Ser)
c.998T>G (p.Ile333Ser)
c.906T>G (p.His302Gln)
n.1432T>G
c.1256T>G (p.Ile419Ser)
4g.6301042T=CA1435772620WFS1c.1283T= (p.Ile428=)
c.1224T=
c.1247T= (p.Ile416=)
c.998T= (p.Ile333=)
c.906T= (p.His302=)
n.1432T=
c.1256T= (p.Ile419=)
4g.6301045_6301047delCA2580616071WFS1c.1286_1288del (p.Phe429del)
c.1227_1229del
c.1250_1252del (p.Phe417del)
c.1001_1003del (p.Phe334del)
c.909_911del (p.Leu304del)
n.1435_1437del
c.1259_1261del (p.Phe420del)
ClinVar
4g.6301043C>ACA438368216WFS1c.1284C>A (p.Ile428=)
c.1225C>A
c.1248C>A (p.Ile416=)
c.999C>A (p.Ile333=)
c.907C>A (p.Leu303Ile)
n.1433C>A
c.1257C>A (p.Ile419=)
4g.6301043C=CA1435772622WFS1c.1284C= (p.Ile428=)
c.1225C=
c.1248C= (p.Ile416=)
c.999C= (p.Ile333=)
c.907C= (p.Leu303=)
n.1433C=
c.1257C= (p.Ile419=)
4g.6301043C>GCA356174536WFS1c.1284C>G (p.Ile428Met)
c.1225C>G
c.1248C>G (p.Ile416Met)
c.999C>G (p.Ile333Met)
c.907C>G (p.Leu303Val)
n.1433C>G
c.1257C>G (p.Ile419Met)
dbSNP
4g.6301043C>TCA438368215WFS1c.1284C>T (p.Ile428=)
c.1225C>T
c.1248C>T (p.Ile416=)
c.999C>T (p.Ile333=)
c.907C>T (p.Leu303Phe)
n.1433C>T
c.1257C>T (p.Ile419=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301044T>ACA356174539WFS1c.1285T>A (p.Phe429Ile)
c.1226T>A
c.1249T>A (p.Phe417Ile)
c.1000T>A (p.Phe334Ile)
c.908T>A (p.Leu303His)
n.1434T>A
c.1258T>A (p.Phe420Ile)
dbSNP gnomAD v3 gnomAD v4
4g.6301044T>CCA356174537WFS1c.1285T>C (p.Phe429Leu)
c.1226T>C
c.1249T>C (p.Phe417Leu)
c.1000T>C (p.Phe334Leu)
c.908T>C (p.Leu303Pro)
n.1434T>C
c.1258T>C (p.Phe420Leu)
4g.6301044T>GCA356174538WFS1c.1285T>G (p.Phe429Val)
c.1226T>G
c.1249T>G (p.Phe417Val)
c.1000T>G (p.Phe334Val)
c.908T>G (p.Leu303Arg)
n.1434T>G
c.1258T>G (p.Phe420Val)
4g.6301044T=CA1435772623WFS1c.1285T= (p.Phe429=)
c.1226T=
c.1249T= (p.Phe417=)
c.1000T= (p.Phe334=)
c.908T= (p.Leu303=)
n.1434T=
c.1258T= (p.Phe420=)
4g.6301045T>ACA356174540WFS1c.1286T>A (p.Phe429Tyr)
c.1227T>A
c.1250T>A (p.Phe417Tyr)
c.1001T>A (p.Phe334Tyr)
c.909T>A (p.Leu303=)
n.1435T>A
c.1259T>A (p.Phe420Tyr)
4g.6301045T>CCA2839283WFS1c.1286T>C (p.Phe429Ser)
c.1227T>C
c.1250T>C (p.Phe417Ser)
c.1001T>C (p.Phe334Ser)
c.909T>C (p.Leu303=)
n.1435T>C
c.1259T>C (p.Phe420Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301045T>GCA356174541WFS1c.1286T>G (p.Phe429Cys)
c.1227T>G
c.1250T>G (p.Phe417Cys)
c.1001T>G (p.Phe334Cys)
c.909T>G (p.Leu303=)
n.1435T>G
c.1259T>G (p.Phe420Cys)
4g.6301045T=CA1435772625WFS1c.1286T= (p.Phe429=)
c.1227T=
c.1250T= (p.Phe417=)
c.1001T= (p.Phe334=)
c.909T= (p.Leu303=)
n.1435T=
c.1259T= (p.Phe420=)
4g.6301046delCA2578035789WFS1c.1287del (p.Ser430ProfsTer24)
c.1228del
c.1251del (p.Ser418ProfsTer24)
c.1002del (p.Ser335ProfsTer24)
c.910del (p.Leu304SerfsTer?)
n.1436del
c.1260del (p.Ser421ProfsTer24)
gnomAD v4
4g.6301046C>ACA356174542WFS1c.1287C>A (p.Phe429Leu)
c.1228C>A
c.1251C>A (p.Phe417Leu)
c.1002C>A (p.Phe334Leu)
c.910C>A (p.Leu304Ile)
n.1436C>A
c.1260C>A (p.Phe420Leu)
4g.6301046C=CA1435772627WFS1c.1287C= (p.Phe429=)
c.1228C=
c.1251C= (p.Phe417=)
c.1002C= (p.Phe334=)
c.910C= (p.Leu304=)
n.1436C=
c.1260C= (p.Phe420=)
4g.6301046C>GCA356174543WFS1c.1287C>G (p.Phe429Leu)
c.1228C>G
c.1251C>G (p.Phe417Leu)
c.1002C>G (p.Phe334Leu)
c.910C>G (p.Leu304Val)
n.1436C>G
c.1260C>G (p.Phe420Leu)
gnomAD v4
4g.6301046C>TCA2839284WFS1c.1287C>T (p.Phe429=)
c.1228C>T
c.1251C>T (p.Phe417=)
c.1002C>T (p.Phe334=)
c.910C>T (p.Leu304Phe)
n.1436C>T
c.1260C>T (p.Phe420=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301046_6301047delinsGCA2586973611WFS1c.1287_1288delinsG (p.Phe429LeufsTer25)
c.1228_1229delinsG
c.1251_1252delinsG (p.Phe417LeufsTer25)
c.1002_1003delinsG (p.Phe334LeufsTer25)
c.910_911delinsG (p.Leu304AlafsTer?)
n.1436_1437delinsG
c.1260_1261delinsG (p.Phe420LeufsTer25)
4g.6301048_6301050delCA2578035790WFS1c.1289_1291del (p.Ser430del)
c.1230_1232del
c.1253_1255del (p.Ser418del)
c.1004_1006del (p.Ser335del)
c.912_914del (p.Leu305del)
n.1438_1440del
c.1262_1264del (p.Ser421del)
gnomAD v4
4g.6301047T>ACA356174544WFS1c.1288T>A (p.Ser430Thr)
c.1229T>A
c.1252T>A (p.Ser418Thr)
c.1003T>A (p.Ser335Thr)
c.911T>A (p.Leu304His)
n.1437T>A
c.1261T>A (p.Ser421Thr)
4g.6301047T>CCA356174545WFS1c.1288T>C (p.Ser430Pro)
c.1229T>C
c.1252T>C (p.Ser418Pro)
c.1003T>C (p.Ser335Pro)
c.911T>C (p.Leu304Pro)
n.1437T>C
c.1261T>C (p.Ser421Pro)
4g.6301047T>GCA356174546WFS1c.1288T>G (p.Ser430Ala)
c.1229T>G
c.1252T>G (p.Ser418Ala)
c.1003T>G (p.Ser335Ala)
c.911T>G (p.Leu304Arg)
n.1437T>G
c.1261T>G (p.Ser421Ala)
gnomAD v4
4g.6301048C>ACA2839285WFS1c.1289C>A (p.Ser430Tyr)
c.1230C>A
c.1253C>A (p.Ser418Tyr)
c.1004C>A (p.Ser335Tyr)
c.912C>A (p.Leu304=)
n.1438C>A
c.1262C>A (p.Ser421Tyr)
dbSNP ExAC gnomAD v2
4g.6301048C=CA1435772629WFS1c.1289C= (p.Ser430=)
c.1230C=
c.1253C= (p.Ser418=)
c.1004C= (p.Ser335=)
c.912C= (p.Leu304=)
n.1438C=
c.1262C= (p.Ser421=)
4g.6301048C>GCA356174547WFS1c.1289C>G (p.Ser430Cys)
c.1230C>G
c.1253C>G (p.Ser418Cys)
c.1004C>G (p.Ser335Cys)
c.912C>G (p.Leu304=)
n.1438C>G
c.1262C>G (p.Ser421Cys)
dbSNP gnomAD v3 gnomAD v4
4g.6301048C>TCA356174548WFS1c.1289C>T (p.Ser430Phe)
c.1230C>T
c.1253C>T (p.Ser418Phe)
c.1004C>T (p.Ser335Phe)
c.912C>T (p.Leu304=)
n.1438C>T
c.1262C>T (p.Ser421Phe)
dbSNP gnomAD v4
4g.6301050_6301055dupCA2669843421WFS1c.1291_1296dup (p.Pro432_Ile433insPhePro)
c.1232_1237dup
c.1255_1260dup (p.Pro420_Ile421insPhePro)
c.1006_1011dup (p.Pro337_Ile338insPhePro)
c.914_919dup (p.Pro306_His307insLeuPro)
n.1440_1445dup
c.1264_1269dup (p.Pro423_Ile424insPhePro)
gnomAD v4
4g.6301048_6301049insTCTCA2586973612WFS1c.1289_1290insTCT (p.Ser430_Phe431insLeu)
c.1230_1231insTCT
c.1253_1254insTCT (p.Ser418_Phe419insLeu)
c.1004_1005insTCT (p.Ser335_Phe336insLeu)
c.912_913insTCT (p.Leu304_Leu305insSer)
n.1438_1439insTCT
c.1262_1263insTCT (p.Ser421_Phe422insLeu)
4g.6301049C>ACA438368385WFS1c.1290C>A (p.Ser430=)
c.1231C>A
c.1254C>A (p.Ser418=)
c.1005C>A (p.Ser335=)
c.913C>A (p.Leu305Ile)
n.1439C>A
c.1263C>A (p.Ser421=)
4g.6301049C=CA1435772630WFS1c.1290C= (p.Ser430=)
c.1231C=
c.1254C= (p.Ser418=)
c.1005C= (p.Ser335=)
c.913C= (p.Leu305=)
n.1439C=
c.1263C= (p.Ser421=)
4g.6301049C>GCA438368386WFS1c.1290C>G (p.Ser430=)
c.1231C>G
c.1254C>G (p.Ser418=)
c.1005C>G (p.Ser335=)
c.913C>G (p.Leu305Val)
n.1439C>G
c.1263C>G (p.Ser421=)
4g.6301049C>TCA91796241WFS1c.1290C>T (p.Ser430=)
c.1231C>T
c.1254C>T (p.Ser418=)
c.1005C>T (p.Ser335=)
c.913C>T (p.Leu305Phe)
n.1439C>T
c.1263C>T (p.Ser421=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301050T>ACA356174549WFS1c.1291T>A (p.Phe431Ile)
c.1232T>A
c.1255T>A (p.Phe419Ile)
c.1006T>A (p.Phe336Ile)
c.914T>A (p.Leu305His)
n.1440T>A
c.1264T>A (p.Phe422Ile)
4g.6301050T>CCA356174550WFS1c.1291T>C (p.Phe431Leu)
c.1232T>C
c.1255T>C (p.Phe419Leu)
c.1006T>C (p.Phe336Leu)
c.914T>C (p.Leu305Pro)
n.1440T>C
c.1264T>C (p.Phe422Leu)
dbSNP gnomAD v4
4g.6301050T>GCA356174551WFS1c.1291T>G (p.Phe431Val)
c.1232T>G
c.1255T>G (p.Phe419Val)
c.1006T>G (p.Phe336Val)
c.914T>G (p.Leu305Arg)
n.1440T>G
c.1264T>G (p.Phe422Val)
4g.6301050T=CA1435772631WFS1c.1291T= (p.Phe431=)
c.1232T=
c.1255T= (p.Phe419=)
c.1006T= (p.Phe336=)
c.914T= (p.Leu305=)
n.1440T=
c.1264T= (p.Phe422=)
4g.6301051T>ACA356174552WFS1c.1292T>A (p.Phe431Tyr)
c.1233T>A
c.1256T>A (p.Phe419Tyr)
c.1007T>A (p.Phe336Tyr)
c.915T>A (p.Leu305=)
n.1441T>A
c.1265T>A (p.Phe422Tyr)
dbSNP
4g.6301051T>CCA356174553WFS1c.1292T>C (p.Phe431Ser)
c.1233T>C
c.1256T>C (p.Phe419Ser)
c.1007T>C (p.Phe336Ser)
c.915T>C (p.Leu305=)
n.1441T>C
c.1265T>C (p.Phe422Ser)
4g.6301051T>GCA356174554WFS1c.1292T>G (p.Phe431Cys)
c.1233T>G
c.1256T>G (p.Phe419Cys)
c.1007T>G (p.Phe336Cys)
c.915T>G (p.Leu305=)
n.1441T>G
c.1265T>G (p.Phe422Cys)
4g.6301051T=CA1435772633WFS1c.1292T= (p.Phe431=)
c.1233T=
c.1256T= (p.Phe419=)
c.1007T= (p.Phe336=)
c.915T= (p.Leu305=)
n.1441T=
c.1265T= (p.Phe422=)
4g.6301052C>ACA356174555WFS1c.1293C>A (p.Phe431Leu)
c.1234C>A
c.1257C>A (p.Phe419Leu)
c.1008C>A (p.Phe336Leu)
c.916C>A (p.Pro306Thr)
n.1442C>A
c.1266C>A (p.Phe422Leu)
gnomAD v4
4g.6301052C=CA1435772634WFS1c.1293C= (p.Phe431=)
c.1234C=
c.1257C= (p.Phe419=)
c.1008C= (p.Phe336=)
c.916C= (p.Pro306=)
n.1442C=
c.1266C= (p.Phe422=)
4g.6301052C>GCA356174556WFS1c.1293C>G (p.Phe431Leu)
c.1234C>G
c.1257C>G (p.Phe419Leu)
c.1008C>G (p.Phe336Leu)
c.916C>G (p.Pro306Ala)
n.1442C>G
c.1266C>G (p.Phe422Leu)
4g.6301052C>TCA438368393WFS1c.1293C>T (p.Phe431=)
c.1234C>T
c.1257C>T (p.Phe419=)
c.1008C>T (p.Phe336=)
c.916C>T (p.Pro306Ser)
n.1442C>T
c.1266C>T (p.Phe422=)
dbSNP gnomAD v2 gnomAD v4
4g.6301055dupCA2586973613WFS1c.1296dup (p.Ile433HisfsTer?)
c.1237dup
c.1260dup (p.Ile421HisfsTer?)
c.1011dup (p.Ile338HisfsTer?)
c.919dup (p.His307ProfsTer22)
n.1445dup
c.1269dup (p.Ile424HisfsTer?)
gnomAD v4
4g.6301053C>ACA356174557WFS1c.1294C>A (p.Pro432Thr)
c.1235C>A
c.1258C>A (p.Pro420Thr)
c.1009C>A (p.Pro337Thr)
c.917C>A (p.Pro306His)
n.1443C>A
c.1267C>A (p.Pro423Thr)
4g.6301053C>GCA356174558WFS1c.1294C>G (p.Pro432Ala)
c.1235C>G
c.1258C>G (p.Pro420Ala)
c.1009C>G (p.Pro337Ala)
c.917C>G (p.Pro306Arg)
n.1443C>G
c.1267C>G (p.Pro423Ala)
4g.6301053C>TCA356174559WFS1c.1294C>T (p.Pro432Ser)
c.1235C>T
c.1258C>T (p.Pro420Ser)
c.1009C>T (p.Pro337Ser)
c.917C>T (p.Pro306Leu)
n.1443C>T
c.1267C>T (p.Pro423Ser)
ClinVar
4g.6301054C>ACA356174561WFS1c.1295C>A (p.Pro432His)
c.1236C>A
c.1259C>A (p.Pro420His)
c.1010C>A (p.Pro337His)
c.918C>A (p.Pro306=)
n.1444C>A
c.1268C>A (p.Pro423His)
4g.6301054C>GCA356174562WFS1c.1295C>G (p.Pro432Arg)
c.1236C>G
c.1259C>G (p.Pro420Arg)
c.1010C>G (p.Pro337Arg)
c.918C>G (p.Pro306=)
n.1444C>G
c.1268C>G (p.Pro423Arg)
4g.6301054C>TCA356174560WFS1c.1295C>T (p.Pro432Leu)
c.1236C>T
c.1259C>T (p.Pro420Leu)
c.1010C>T (p.Pro337Leu)
c.918C>T (p.Pro306=)
n.1444C>T
c.1268C>T (p.Pro423Leu)
COSMIC
4g.6301055C>ACA438368396WFS1c.1296C>A (p.Pro432=)
c.1237C>A
c.1260C>A (p.Pro420=)
c.1011C>A (p.Pro337=)
c.919C>A (p.His307Asn)
n.1445C>A
c.1269C>A (p.Pro423=)
4g.6301055C=CA1435772636WFS1c.1296C= (p.Pro432=)
c.1237C=
c.1260C= (p.Pro420=)
c.1011C= (p.Pro337=)
c.919C= (p.His307=)
n.1445C=
c.1269C= (p.Pro423=)
4g.6301055C>GCA438368397WFS1c.1296C>G (p.Pro432=)
c.1237C>G
c.1260C>G (p.Pro420=)
c.1011C>G (p.Pro337=)
c.919C>G (p.His307Asp)
n.1445C>G
c.1269C>G (p.Pro423=)
4g.6301055C>TCA438368398WFS1c.1296C>T (p.Pro432=)
c.1237C>T
c.1260C>T (p.Pro420=)
c.1011C>T (p.Pro337=)
c.919C>T (p.His307Tyr)
n.1445C>T
c.1269C>T (p.Pro423=)
dbSNP gnomAD v4
4g.6301056A=CA1435772638WFS1c.1297A= (p.Ile433=)
c.1238A=
c.1261A= (p.Ile421=)
c.1012A= (p.Ile338=)
c.920A= (p.His307=)
n.1446A=
c.1270A= (p.Ile424=)
4g.6301056A>CCA2839286WFS1c.1297A>C (p.Ile433Leu)
c.1238A>C
c.1261A>C (p.Ile421Leu)
c.1012A>C (p.Ile338Leu)
c.920A>C (p.His307Pro)
n.1446A>C
c.1270A>C (p.Ile424Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301056A>GCA179643WFS1c.1297A>G (p.Ile433Val)
c.1238A>G
c.1261A>G (p.Ile421Val)
c.1012A>G (p.Ile338Val)
c.920A>G (p.His307Arg)
n.1446A>G
c.1270A>G (p.Ile424Val)
ClinVar dbSNP COSMIC
4g.6301056A>TCA356174563WFS1c.1297A>T (p.Ile433Phe)
c.1238A>T
c.1261A>T (p.Ile421Phe)
c.1012A>T (p.Ile338Phe)
c.920A>T (p.His307Leu)
n.1446A>T
c.1270A>T (p.Ile424Phe)
4g.6301057T>ACA356174564WFS1c.1298T>A (p.Ile433Asn)
c.1239T>A
c.1262T>A (p.Ile421Asn)
c.1013T>A (p.Ile338Asn)
c.921T>A (p.His307Gln)
n.1447T>A
c.1271T>A (p.Ile424Asn)
4g.6301057T>CCA356174565WFS1c.1298T>C (p.Ile433Thr)
c.1239T>C
c.1262T>C (p.Ile421Thr)
c.1013T>C (p.Ile338Thr)
c.921T>C (p.His307=)
n.1447T>C
c.1271T>C (p.Ile424Thr)
4g.6301057T>GCA356174566WFS1c.1298T>G (p.Ile433Ser)
c.1239T>G
c.1262T>G (p.Ile421Ser)
c.1013T>G (p.Ile338Ser)
c.921T>G (p.His307Gln)
n.1447T>G
c.1271T>G (p.Ile424Ser)
gnomAD v4
4g.6301058C>ACA438368399WFS1c.1299C>A (p.Ile433=)
c.1240C>A
c.1263C>A (p.Ile421=)
c.1014C>A (p.Ile338=)
c.922C>A (p.Arg308Ser)
n.1448C>A
c.1272C>A (p.Ile424=)
4g.6301058C=CA1435772640WFS1c.1299C= (p.Ile433=)
c.1240C=
c.1263C= (p.Ile421=)
c.1014C= (p.Ile338=)
c.922C= (p.Arg308=)
n.1448C=
c.1272C= (p.Ile424=)
4g.6301058C>GCA2839287WFS1c.1299C>G (p.Ile433Met)
c.1240C>G
c.1263C>G (p.Ile421Met)
c.1014C>G (p.Ile338Met)
c.922C>G (p.Arg308Gly)
n.1448C>G
c.1272C>G (p.Ile424Met)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301058C>TCA2839288WFS1c.1299C>T (p.Ile433=)
c.1240C>T
c.1263C>T (p.Ile421=)
c.1014C>T (p.Ile338=)
c.922C>T (p.Arg308Cys)
n.1448C>T
c.1272C>T (p.Ile424=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301059G>ACA2839289WFS1c.1300G>A (p.Ala434Thr)
c.1241G>A
c.1264G>A (p.Ala422Thr)
c.1015G>A (p.Ala339Thr)
c.923G>A (p.Arg308His)
n.1449G>A
c.1273G>A (p.Ala425Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301059G>CCA356174567WFS1c.1300G>C (p.Ala434Pro)
c.1241G>C
c.1264G>C (p.Ala422Pro)
c.1015G>C (p.Ala339Pro)
c.923G>C (p.Arg308Pro)
n.1449G>C
c.1273G>C (p.Ala425Pro)
4g.6301059G=CA1435772642WFS1c.1300G= (p.Ala434=)
c.1241G=
c.1264G= (p.Ala422=)
c.1015G= (p.Ala339=)
c.923G= (p.Arg308=)
n.1449G=
c.1273G= (p.Ala425=)
4g.6301059G>TCA2839290WFS1c.1300G>T (p.Ala434Ser)
c.1241G>T
c.1264G>T (p.Ala422Ser)
c.1015G>T (p.Ala339Ser)
c.923G>T (p.Arg308Leu)
n.1449G>T
c.1273G>T (p.Ala425Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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.6301060C>ACA356174568WFS1c.1301C>A (p.Ala434Asp)
c.1242C>A
c.1265C>A (p.Ala422Asp)
c.1016C>A (p.Ala339Asp)
c.924C>A (p.Arg308=)
n.1450C>A
c.1274C>A (p.Ala425Asp)
4g.6301060C=CA1435772644WFS1c.1301C= (p.Ala434=)
c.1242C=
c.1265C= (p.Ala422=)
c.1016C= (p.Ala339=)
c.924C= (p.Arg308=)
n.1450C=
c.1274C= (p.Ala425=)
4g.6301060C>GCA356174569WFS1c.1301C>G (p.Ala434Gly)
c.1242C>G
c.1265C>G (p.Ala422Gly)
c.1016C>G (p.Ala339Gly)
c.924C>G (p.Arg308=)
n.1450C>G
c.1274C>G (p.Ala425Gly)
4g.6301060C>TCA2839291WFS1c.1301C>T (p.Ala434Val)
c.1242C>T
c.1265C>T (p.Ala422Val)
c.1016C>T (p.Ala339Val)
c.924C>T (p.Arg308=)
n.1450C>T
c.1274C>T (p.Ala425Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301061C>ACA438368405WFS1c.1302C>A (p.Ala434=)
c.1243C>A
c.1266C>A (p.Ala422=)
c.1017C>A (p.Ala339=)
c.925C>A (p.Gln309Lys)
n.1451C>A
c.1275C>A (p.Ala425=)
gnomAD v4
4g.6301061C>GCA438368407WFS1c.1302C>G (p.Ala434=)
c.1243C>G
c.1266C>G (p.Ala422=)
c.1017C>G (p.Ala339=)
c.925C>G (p.Gln309Glu)
n.1451C>G
c.1275C>G (p.Ala425=)
4g.6301061C>TCA438368408WFS1c.1302C>T (p.Ala434=)
c.1243C>T
c.1266C>T (p.Ala422=)
c.1017C>T (p.Ala339=)
c.925C>T (p.Gln309Ter)
n.1451C>T
c.1275C>T (p.Ala425=)
4g.6301062A>CCA356174570WFS1c.1303A>C (p.Ser435Arg)
c.1244A>C
c.1267A>C (p.Ser423Arg)
c.1018A>C (p.Ser340Arg)
c.926A>C (p.Gln309Pro)
n.1452A>C
c.1276A>C (p.Ser426Arg)
4g.6301062A>GCA356174571WFS1c.1303A>G (p.Ser435Gly)
c.1244A>G
c.1267A>G (p.Ser423Gly)
c.1018A>G (p.Ser340Gly)
c.926A>G (p.Gln309Arg)
n.1452A>G
c.1276A>G (p.Ser426Gly)
gnomAD v4
4g.6301062A>TCA356174572WFS1c.1303A>T (p.Ser435Cys)
c.1244A>T
c.1267A>T (p.Ser423Cys)
c.1018A>T (p.Ser340Cys)
c.926A>T (p.Gln309Leu)
n.1452A>T
c.1276A>T (p.Ser426Cys)
4g.6301063G>ACA91796242WFS1c.1304G>A (p.Ser435Asn)
c.1245G>A
c.1268G>A (p.Ser423Asn)
c.1019G>A (p.Ser340Asn)
c.927G>A (p.Gln309=)
n.1453G>A
c.1277G>A (p.Ser426Asn)
dbSNP gnomAD v3 gnomAD v4
4g.6301063G>CCA356174573WFS1c.1304G>C (p.Ser435Thr)
c.1245G>C
c.1268G>C (p.Ser423Thr)
c.1019G>C (p.Ser340Thr)
c.927G>C (p.Gln309His)
n.1453G>C
c.1277G>C (p.Ser426Thr)
4g.6301063G=CA1435772646WFS1c.1304G= (p.Ser435=)
c.1245G=
c.1268G= (p.Ser423=)
c.1019G= (p.Ser340=)
c.927G= (p.Gln309=)
n.1453G=
c.1277G= (p.Ser426=)
4g.6301063G>TCA356174574WFS1c.1304G>T (p.Ser435Ile)
c.1245G>T
c.1268G>T (p.Ser423Ile)
c.1019G>T (p.Ser340Ile)
c.927G>T (p.Gln309His)
n.1453G>T
c.1277G>T (p.Ser426Ile)
4g.6301064C>ACA356174575WFS1c.1305C>A (p.Ser435Arg)
c.1246C>A
c.1269C>A (p.Ser423Arg)
c.1020C>A (p.Ser340Arg)
c.928C>A (p.Gln310Lys)
n.1454C>A
c.1278C>A (p.Ser426Arg)
4g.6301064C=CA1435772648WFS1c.1305C= (p.Ser435=)
c.1246C=
c.1269C= (p.Ser423=)
c.1020C= (p.Ser340=)
c.928C= (p.Gln310=)
n.1454C=
c.1278C= (p.Ser426=)
4g.6301064C>GCA91796243WFS1c.1305C>G (p.Ser435Arg)
c.1246C>G
c.1269C>G (p.Ser423Arg)
c.1020C>G (p.Ser340Arg)
c.928C>G (p.Gln310Glu)
n.1454C>G
c.1278C>G (p.Ser426Arg)
dbSNP gnomAD v4
4g.6301064C>TCA438368415WFS1c.1305C>T (p.Ser435=)
c.1246C>T
c.1269C>T (p.Ser423=)
c.1020C>T (p.Ser340=)
c.928C>T (p.Gln310Ter)
n.1454C>T
c.1278C>T (p.Ser426=)
4g.6301065A=CA1435772649WFS1c.1306A= (p.Lys436=)
c.1247A=
c.1270A= (p.Lys424=)
c.1021A= (p.Lys341=)
c.929A= (p.Gln310=)
n.1455A=
c.1279A= (p.Lys427=)
4g.6301065A>CCA91796244WFS1c.1306A>C (p.Lys436Gln)
c.1247A>C
c.1270A>C (p.Lys424Gln)
c.1021A>C (p.Lys341Gln)
c.929A>C (p.Gln310Pro)
n.1455A>C
c.1279A>C (p.Lys427Gln)
dbSNP gnomAD v3 gnomAD v4
4g.6301065A>GCA356174576WFS1c.1306A>G (p.Lys436Glu)
c.1247A>G
c.1270A>G (p.Lys424Glu)
c.1021A>G (p.Lys341Glu)
c.929A>G (p.Gln310Arg)
n.1455A>G
c.1279A>G (p.Lys427Glu)
4g.6301065A>TCA356174577WFS1c.1306A>T (p.Lys436Ter)
c.1247A>T
c.1270A>T (p.Lys424Ter)
c.1021A>T (p.Lys341Ter)
c.929A>T (p.Gln310Leu)
n.1455A>T
c.1279A>T (p.Lys427Ter)
4g.6301066A>CCA356174578WFS1c.1307A>C (p.Lys436Thr)
c.1248A>C
c.1271A>C (p.Lys424Thr)
c.1022A>C (p.Lys341Thr)
c.930A>C (p.Gln310His)
n.1456A>C
c.1280A>C (p.Lys427Thr)
gnomAD v4
4g.6301066A>GCA356174579WFS1c.1307A>G (p.Lys436Arg)
c.1248A>G
c.1271A>G (p.Lys424Arg)
c.1022A>G (p.Lys341Arg)
c.930A>G (p.Gln310=)
n.1456A>G
c.1280A>G (p.Lys427Arg)
4g.6301066A>TCA356174580WFS1c.1307A>T (p.Lys436Met)
c.1248A>T
c.1271A>T (p.Lys424Met)
c.1022A>T (p.Lys341Met)
c.930A>T (p.Gln310His)
n.1456A>T
c.1280A>T (p.Lys427Met)
4g.6301067G>ACA438368417WFS1c.1308G>A (p.Lys436=)
c.1249G>A
c.1272G>A (p.Lys424=)
c.1023G>A (p.Lys341=)
c.931G>A (p.Gly311Arg)
n.1457G>A
c.1281G>A (p.Lys427=)
ClinVar dbSNP gnomAD v4
4g.6301067G>CCA356174581WFS1c.1308G>C (p.Lys436Asn)
c.1249G>C
c.1272G>C (p.Lys424Asn)
c.1023G>C (p.Lys341Asn)
c.931G>C (p.Gly311Arg)
n.1457G>C
c.1281G>C (p.Lys427Asn)
dbSNP gnomAD v2 gnomAD v4
4g.6301067G=CA1435772651WFS1c.1308G= (p.Lys436=)
c.1249G=
c.1272G= (p.Lys424=)
c.1023G= (p.Lys341=)
c.931G= (p.Gly311=)
n.1457G=
c.1281G= (p.Lys427=)
4g.6301067G>TCA356174582WFS1c.1308G>T (p.Lys436Asn)
c.1249G>T
c.1272G>T (p.Lys424Asn)
c.1023G>T (p.Lys341Asn)
c.931G>T (p.Gly311Ter)
n.1457G>T
c.1281G>T (p.Lys427Asn)
4g.6301068G>ACA91796245WFS1c.1309G>A (p.Asp437Asn)
c.1250G>A
c.1273G>A (p.Asp425Asn)
c.1024G>A (p.Asp342Asn)
c.932G>A (p.Gly311Glu)
n.1458G>A
c.1282G>A (p.Asp428Asn)
dbSNP gnomAD v2 gnomAD v4
4g.6301068G>CCA356174583WFS1c.1309G>C (p.Asp437His)
c.1250G>C
c.1273G>C (p.Asp425His)
c.1024G>C (p.Asp342His)
c.932G>C (p.Gly311Ala)
n.1458G>C
c.1282G>C (p.Asp428His)
dbSNP gnomAD v2 gnomAD v4
4g.6301068G=CA1435772653WFS1c.1309G= (p.Asp437=)
c.1250G=
c.1273G= (p.Asp425=)
c.1024G= (p.Asp342=)
c.932G= (p.Gly311=)
n.1458G=
c.1282G= (p.Asp428=)
4g.6301068G>TCA356174584WFS1c.1309G>T (p.Asp437Tyr)
c.1250G>T
c.1273G>T (p.Asp425Tyr)
c.1024G>T (p.Asp342Tyr)
c.932G>T (p.Gly311Val)
n.1458G>T
c.1282G>T (p.Asp428Tyr)
4g.6301069A=CA1435772654WFS1c.1310A= (p.Asp437=)
c.1251A=
c.1274A= (p.Asp425=)
c.1025A= (p.Asp342=)
c.933A= (p.Gly311=)
n.1459A=
c.1283A= (p.Asp428=)
4g.6301069A>CCA2839292WFS1c.1310A>C (p.Asp437Ala)
c.1251A>C
c.1274A>C (p.Asp425Ala)
c.1025A>C (p.Asp342Ala)
c.933A>C (p.Gly311=)
n.1459A>C
c.1283A>C (p.Asp428Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301069A>GCA356174585WFS1c.1310A>G (p.Asp437Gly)
c.1251A>G
c.1274A>G (p.Asp425Gly)
c.1025A>G (p.Asp342Gly)
c.933A>G (p.Gly311=)
n.1459A>G
c.1283A>G (p.Asp428Gly)
4g.6301069A>TCA356174586WFS1c.1310A>T (p.Asp437Val)
c.1251A>T
c.1274A>T (p.Asp425Val)
c.1025A>T (p.Asp342Val)
c.933A>T (p.Gly311=)
n.1459A>T
c.1283A>T (p.Asp428Val)
4g.6301070C>ACA356174587WFS1c.1311C>A (p.Asp437Glu)
c.1252C>A
c.1275C>A (p.Asp425Glu)
c.1026C>A (p.Asp342Glu)
c.934C>A (p.Leu312Met)
n.1460C>A
c.1284C>A (p.Asp428Glu)
4g.6301070C=CA1435772656WFS1c.1311C= (p.Asp437=)
c.1252C=
c.1275C= (p.Asp425=)
c.1026C= (p.Asp342=)
c.934C= (p.Leu312=)
n.1460C=
c.1284C= (p.Asp428=)
4g.6301070C>GCA356174588WFS1c.1311C>G (p.Asp437Glu)
c.1252C>G
c.1275C>G (p.Asp425Glu)
c.1026C>G (p.Asp342Glu)
c.934C>G (p.Leu312Val)
n.1460C>G
c.1284C>G (p.Asp428Glu)
4g.6301070C>TCA438368422WFS1c.1311C>T (p.Asp437=)
c.1252C>T
c.1275C>T (p.Asp425=)
c.1026C>T (p.Asp342=)
c.934C>T (p.Leu312=)
n.1460C>T
c.1284C>T (p.Asp428=)
dbSNP gnomAD v3 gnomAD v4
4g.6301071T>ACA356174589WFS1c.1312T>A (p.Cys438Ser)
c.1253T>A
c.1276T>A (p.Cys426Ser)
c.1027T>A (p.Cys343Ser)
c.935T>A (p.Leu312Gln)
n.1461T>A
c.1285T>A (p.Cys429Ser)
dbSNP
4g.6301071T>CCA356174590WFS1c.1312T>C (p.Cys438Arg)
c.1253T>C
c.1276T>C (p.Cys426Arg)
c.1027T>C (p.Cys343Arg)
c.935T>C (p.Leu312Pro)
n.1461T>C
c.1285T>C (p.Cys429Arg)
4g.6301071T>GCA356174591WFS1c.1312T>G (p.Cys438Gly)
c.1253T>G
c.1276T>G (p.Cys426Gly)
c.1027T>G (p.Cys343Gly)
c.935T>G (p.Leu312Arg)
n.1461T>G
c.1285T>G (p.Cys429Gly)
4g.6301071T=CA1435772658WFS1c.1312T= (p.Cys438=)
c.1253T=
c.1276T= (p.Cys426=)
c.1027T= (p.Cys343=)
c.935T= (p.Leu312=)
n.1461T=
c.1285T= (p.Cys429=)
4g.6301072G>ACA282568WFS1c.1313G>A (p.Cys438Tyr)
c.1254G>A
c.1277G>A (p.Cys426Tyr)
c.1028G>A (p.Cys343Tyr)
c.936G>A (p.Leu312=)
n.1462G>A
c.1286G>A (p.Cys429Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301072G>CCA2839293WFS1c.1313G>C (p.Cys438Ser)
c.1254G>C
c.1277G>C (p.Cys426Ser)
c.1028G>C (p.Cys343Ser)
c.936G>C (p.Leu312=)
n.1462G>C
c.1286G>C (p.Cys429Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301072G=CA1435772659WFS1c.1313G= (p.Cys438=)
c.1254G=
c.1277G= (p.Cys426=)
c.1028G= (p.Cys343=)
c.936G= (p.Leu312=)
n.1462G=
c.1286G= (p.Cys429=)
4g.6301072G>TCA356174592WFS1c.1313G>T (p.Cys438Phe)
c.1254G>T
c.1277G>T (p.Cys426Phe)
c.1028G>T (p.Cys343Phe)
c.936G>T (p.Leu312=)
n.1462G>T
c.1286G>T (p.Cys429Phe)
4g.6301073C>ACA356174594WFS1c.1314C>A (p.Cys438Ter)
c.1255C>A
c.1278C>A (p.Cys426Ter)
c.1029C>A (p.Cys343Ter)
c.937C>A (p.His313Asn)
n.1463C>A
c.1287C>A (p.Cys429Ter)
4g.6301073C>GCA356174593WFS1c.1314C>G (p.Cys438Trp)
c.1255C>G
c.1278C>G (p.Cys426Trp)
c.1029C>G (p.Cys343Trp)
c.937C>G (p.His313Asp)
n.1463C>G
c.1287C>G (p.Cys429Trp)
4g.6301073C>TCA438368428WFS1c.1314C>T (p.Cys438=)
c.1255C>T
c.1278C>T (p.Cys426=)
c.1029C>T (p.Cys343=)
c.937C>T (p.His313Tyr)
n.1463C>T
c.1287C>T (p.Cys429=)
gnomAD v4
4g.6301074A>CCA356174595WFS1c.1315A>C (p.Ile439Leu)
c.1256A>C
c.1279A>C (p.Ile427Leu)
c.1030A>C (p.Ile344Leu)
c.938A>C (p.His313Pro)
n.1464A>C
c.1288A>C (p.Ile430Leu)
4g.6301074A>GCA356174596WFS1c.1315A>G (p.Ile439Val)
c.1256A>G
c.1279A>G (p.Ile427Val)
c.1030A>G (p.Ile344Val)
c.938A>G (p.His313Arg)
n.1464A>G
c.1288A>G (p.Ile430Val)
gnomAD v4
4g.6301074A>TCA356174597WFS1c.1315A>T (p.Ile439Phe)
c.1256A>T
c.1279A>T (p.Ile427Phe)
c.1030A>T (p.Ile344Phe)
c.938A>T (p.His313Leu)
n.1464A>T
c.1288A>T (p.Ile430Phe)
4g.6301075T>ACA356174598WFS1c.1316T>A (p.Ile439Asn)
c.1257T>A
c.1280T>A (p.Ile427Asn)
c.1031T>A (p.Ile344Asn)
c.939T>A (p.His313Gln)
n.1465T>A
c.1289T>A (p.Ile430Asn)
4g.6301075T>CCA356174599WFS1c.1316T>C (p.Ile439Thr)
c.1257T>C
c.1280T>C (p.Ile427Thr)
c.1031T>C (p.Ile344Thr)
c.939T>C (p.His313=)
n.1465T>C
c.1289T>C (p.Ile430Thr)
4g.6301075T>GCA356174600WFS1c.1316T>G (p.Ile439Ser)
c.1257T>G
c.1280T>G (p.Ile427Ser)
c.1031T>G (p.Ile344Ser)
c.939T>G (p.His313Gln)
n.1465T>G
c.1289T>G (p.Ile430Ser)
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

Number of alleles fetched