Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6300978G>A | CA91796231 | WFS1 | c.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 |
4 | g.6300978G>C | CA356174413 | WFS1 | c.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 |
4 | g.6300978G= | CA1435772483 | WFS1 | c.1219G= (p.Val407=) c.1160G= c.1183G= (p.Val395=) c.934G= (p.Val312=) c.842G= (p.Gly281=) n.1368G= c.1192G= (p.Val398=) | |
4 | g.6300978G>T | CA356174414 | WFS1 | c.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) | |
4 | g.6300979T>A | CA2839249 | WFS1 | c.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 |
4 | g.6300979T>C | CA356174415 | WFS1 | c.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) | |
4 | g.6300979T>G | CA356174416 | WFS1 | c.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) | |
4 | g.6300979T= | CA1435772486 | WFS1 | c.1220T= (p.Val407=) c.1161T= c.1184T= (p.Val395=) c.935T= (p.Val312=) c.843T= (p.Gly281=) n.1369T= c.1193T= (p.Val398=) | |
4 | g.6300980C>A | CA438368153 | WFS1 | c.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 |
4 | g.6300980C= | CA1435772490 | WFS1 | c.1221C= (p.Val407=) c.1162C= c.1185C= (p.Val395=) c.936C= (p.Val312=) c.844C= (p.Gln282=) n.1370C= c.1194C= (p.Val398=) | |
4 | g.6300980C>G | CA91796232 | WFS1 | c.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 |
4 | g.6300980C>T | CA136330 | WFS1 | c.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 |
4 | g.6300981A>C | CA356174417 | WFS1 | c.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) | |
4 | g.6300981A>G | CA356174419 | WFS1 | c.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 |
4 | g.6300981A>T | CA356174418 | WFS1 | c.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) | |
4 | g.6300982A= | CA1435772492 | WFS1 | c.1223A= (p.Asn408=) c.1164A= c.1187A= (p.Asn396=) c.938A= (p.Asn313=) c.846A= (p.Gln282=) n.1372A= c.1196A= (p.Asn399=) | |
4 | g.6300982A>C | CA356174420 | WFS1 | c.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 |
4 | g.6300982A>G | CA2839250 | WFS1 | c.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 |
4 | g.6300982A>T | CA356174421 | WFS1 | c.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) | |
4 | g.6300983C>A | CA356174422 | WFS1 | c.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) | |
4 | g.6300983C= | CA1435772494 | WFS1 | c.1224C= (p.Asn408=) c.1165C= c.1188C= (p.Asn396=) c.939C= (p.Asn313=) c.847C= (p.Leu283=) n.1373C= c.1197C= (p.Asn399=) | |
4 | g.6300983C>G | CA356174423 | WFS1 | c.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 |
4 | g.6300983C>T | CA91796233 | WFS1 | c.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 |
4 | g.6300984T>A | CA356174424 | WFS1 | c.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) | |
4 | g.6300984T>C | CA356174425 | WFS1 | c.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) | |
4 | g.6300984T>G | CA356174426 | WFS1 | c.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) | |
4 | g.6300985T>A | CA356174427 | WFS1 | c.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) | |
4 | g.6300985T>C | CA356174428 | WFS1 | c.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) | |
4 | g.6300985T>G | CA356174429 | WFS1 | c.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 |
4 | g.6300985T= | CA1435772497 | WFS1 | c.1226T= (p.Phe409=) c.1167T= c.1190T= (p.Phe397=) c.941T= (p.Phe314=) c.849T= (p.Leu283=) n.1375T= c.1199T= (p.Phe400=) | |
4 | g.6300986C>A | CA356174430 | WFS1 | c.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) | |
4 | g.6300986C= | CA1435772499 | WFS1 | c.1227C= (p.Phe409=) c.1168C= c.1191C= (p.Phe397=) c.942C= (p.Phe314=) c.850C= (p.Arg284=) n.1376C= c.1200C= (p.Phe400=) | |
4 | g.6300986C>G | CA91796234 | WFS1 | c.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 |
4 | g.6300986C>T | CA2839251 | WFS1 | c.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 |
4 | g.6300987G>A | CA356174431 | WFS1 | c.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 |
4 | g.6300987G>C | CA325363 | WFS1 | c.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 |
4 | g.6300987G= | CA1435772502 | WFS1 | c.1228G= (p.Gly410=) c.1169G= c.1192G= (p.Gly398=) c.943G= (p.Gly315=) c.851G= (p.Arg284=) n.1377G= c.1201G= (p.Gly401=) | |
4 | g.6300987G>T | CA356174432 | WFS1 | c.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 |
4 | g.6300988G>A | CA356174433 | WFS1 | c.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) | |
4 | g.6300988G>C | CA356174434 | WFS1 | c.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) | |
4 | g.6300988G>T | CA356174435 | WFS1 | c.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) | |
4 | g.6300989C>A | CA2839253 | WFS1 | c.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 |
4 | g.6300989C= | CA1435772504 | WFS1 | c.1230C= (p.Gly410=) c.1171C= c.1194C= (p.Gly398=) c.945C= (p.Gly315=) c.853C= (p.Leu285=) n.1379C= c.1203C= (p.Gly401=) | |
4 | g.6300989C>G | CA438368158 | WFS1 | c.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=) | |
4 | g.6300989C>T | CA2839252 | WFS1 | c.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 |
4 | g.6300990T>A | CA356174436 | WFS1 | c.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) | |
4 | g.6300990T>C | CA356174437 | WFS1 | c.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) | |
4 | g.6300990T>G | CA320196 | WFS1 | c.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 |
4 | g.6300990T= | CA1435772508 | WFS1 | c.1231T= (p.Trp411=) c.1172T= c.1195T= (p.Trp399=) c.946T= (p.Trp316=) c.854T= (p.Leu285=) n.1380T= c.1204T= (p.Trp402=) | |
4 | g.6300991G>A | CA356174440 | WFS1 | c.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 |
4 | g.6300991G>C | CA356174439 | WFS1 | c.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 |
4 | g.6300991G= | CA1435772510 | WFS1 | c.1232G= (p.Trp411=) c.1173G= c.1196G= (p.Trp399=) c.947G= (p.Trp316=) c.855G= (p.Leu285=) n.1381G= c.1205G= (p.Trp402=) | |
4 | g.6300991G>T | CA356174438 | WFS1 | c.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) | |
4 | g.6300992G>A | CA2839254 | WFS1 | c.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 |
4 | g.6300992G>C | CA356174442 | WFS1 | c.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) | |
4 | g.6300992G= | CA1435772512 | WFS1 | c.1233G= (p.Trp411=) c.1174G= c.1197G= (p.Trp399=) c.948G= (p.Trp316=) c.856G= (p.Glu286=) n.1382G= c.1206G= (p.Trp402=) | |
4 | g.6300992G>T | CA356174441 | WFS1 | c.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) | |
4 | g.6300993A>C | CA356174443 | WFS1 | c.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) | |
4 | g.6300993A>G | CA356174445 | WFS1 | c.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 |
4 | g.6300993A>T | CA356174444 | WFS1 | c.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) | |
4 | g.6300994A= | CA1435772513 | WFS1 | c.1235A= (p.Asn412=) c.1176A= c.1199A= (p.Asn400=) c.950A= (p.Asn317=) c.858A= (p.Glu286=) n.1384A= c.1208A= (p.Asn403=) | |
4 | g.6300994A>C | CA356174446 | WFS1 | c.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 |
4 | g.6300994A>G | CA2839255 | WFS1 | c.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 |
4 | g.6300994A>T | CA356174447 | WFS1 | c.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) | |
4 | g.6300995C>A | CA356174448 | WFS1 | c.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) | |
4 | g.6300995C= | CA1435772515 | WFS1 | c.1236C= (p.Asn412=) c.1177C= c.1200C= (p.Asn400=) c.951C= (p.Asn317=) c.859C= (p.Pro287=) n.1385C= c.1209C= (p.Asn403=) | |
4 | g.6300995C>G | CA356174449 | WFS1 | c.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 |
4 | g.6300995C>T | CA438368163 | WFS1 | c.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=) | |
4 | g.6300996C>A | CA356174450 | WFS1 | c.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) | |
4 | g.6300996C= | CA1435772517 | WFS1 | c.1237C= (p.His413=) c.1178C= c.1201C= (p.His401=) c.952C= (p.His318=) c.860C= (p.Pro287=) n.1386C= c.1210C= (p.His404=) | |
4 | g.6300996C>G | CA356174451 | WFS1 | c.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 |
4 | g.6300996C>T | CA356174452 | WFS1 | c.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 |
4 | g.6300997A= | CA1435772518 | WFS1 | c.1238A= (p.His413=) c.1179A= c.1202A= (p.His401=) c.953A= (p.His318=) c.861A= (p.Pro287=) n.1387A= c.1211A= (p.His404=) | |
4 | g.6300997A>C | CA356174453 | WFS1 | c.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) | |
4 | g.6300997A>G | CA356174454 | WFS1 | c.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 |
4 | g.6300997A>T | CA356174455 | WFS1 | c.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) | |
4 | g.6300998C>A | CA356174456 | WFS1 | c.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) | |
4 | g.6300998C>G | CA356174457 | WFS1 | c.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 |
4 | g.6300998C>T | CA438368165 | WFS1 | c.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 |
4 | g.6300999C>A | CA356174458 | WFS1 | c.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) | |
4 | g.6300999C= | CA1435772521 | WFS1 | c.1240C= (p.Leu414=) c.1181C= c.1204C= (p.Leu402=) c.955C= (p.Leu319=) c.863C= (p.Pro288=) n.1389C= c.1213C= (p.Leu405=) | |
4 | g.6300999C>G | CA356174459 | WFS1 | c.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 |
4 | g.6300999C>T | CA2839256 | WFS1 | c.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 |
4 | g.6300999_6301000insACA | CA2760284760 | WFS1 | c.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) | |
4 | g.6301000T>A | CA356174460 | WFS1 | c.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) | |
4 | g.6301000T>C | CA2839258 | WFS1 | c.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 |
4 | g.6301000T>G | CA2839257 | WFS1 | c.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 |
4 | g.6301000T= | CA1435772525 | WFS1 | c.1241T= (p.Leu414=) c.1182T= c.1205T= (p.Leu402=) c.956T= (p.Leu319=) c.864T= (p.Pro288=) n.1390T= c.1214T= (p.Leu405=) | |
4 | g.6301000dup | CA549707906 | WFS1 | c.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 |
4 | g.6301001G>A | CA438368168 | WFS1 | c.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=) | |
4 | g.6301001G>C | CA438368170 | WFS1 | c.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=) | |
4 | g.6301001G>T | CA438368171 | WFS1 | c.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=) | |
4 | g.6301002del | CA2760284764 | WFS1 | c.1243del (p.Glu415SerfsTer?) c.1184del c.1207del (p.Glu403SerfsTer?) c.958del (p.Glu320SerfsTer?) c.866del (p.Gly289GlufsTer?) n.1392del c.1216del (p.Glu406SerfsTer?) | |
4 | g.6301002G>A | CA356174461 | WFS1 | c.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) | |
4 | g.6301002G>C | CA356174462 | WFS1 | c.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 |
4 | g.6301002G= | CA1435772527 | WFS1 | c.1243G= (p.Glu415=) c.1184G= c.1207G= (p.Glu403=) c.958G= (p.Glu320=) c.866G= (p.Gly289=) n.1392G= c.1216G= (p.Glu406=) | |
4 | g.6301002G>T | CA356174463 | WFS1 | c.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 |
4 | g.6301003A>C | CA356174464 | WFS1 | c.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) | |
4 | g.6301003A>G | CA356174465 | WFS1 | c.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) | |
4 | g.6301003A>T | CA356174466 | WFS1 | c.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) | |
4 | g.6301004G>A | CA2839260 | WFS1 | c.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 |
4 | g.6301004G>C | CA356174467 | WFS1 | c.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) | |
4 | g.6301004G= | CA1435772529 | WFS1 | c.1245G= (p.Glu415=) c.1186G= c.1209G= (p.Glu403=) c.960G= (p.Glu320=) c.868G= (p.Ala290=) n.1394G= c.1218G= (p.Glu406=) | |
4 | g.6301004G>T | CA2839259 | WFS1 | c.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 |
4 | g.6301005C>A | CA356174468 | WFS1 | c.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) | |
4 | g.6301005C= | CA1435772530 | WFS1 | c.1246C= (p.Pro416=) c.1187C= c.1210C= (p.Pro404=) c.961C= (p.Pro321=) c.869C= (p.Ala290=) n.1395C= c.1219C= (p.Pro407=) | |
4 | g.6301005C>G | CA2839261 | WFS1 | c.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 |
4 | g.6301005C>T | CA356174469 | WFS1 | c.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) | |
4 | g.6301006C>A | CA356174470 | WFS1 | c.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 |
4 | g.6301006C= | CA1435772533 | WFS1 | c.1247C= (p.Pro416=) c.1188C= c.1211C= (p.Pro404=) c.962C= (p.Pro321=) c.870C= (p.Ala290=) n.1396C= c.1220C= (p.Pro407=) | |
4 | g.6301006C>G | CA356174471 | WFS1 | c.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) | ClinVar dbSNP gnomAD v4 |
4 | g.6301006C>T | CA91796235 | WFS1 | c.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 |
4 | g.6301006_6301007insACAA | CA2760284770 | WFS1 | c.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?) | |
4 | g.6301007C>A | CA438368174 | WFS1 | c.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=) | |
4 | g.6301007C= | CA1435772536 | WFS1 | c.1248C= (p.Pro416=) c.1189C= c.1212C= (p.Pro404=) c.963C= (p.Pro321=) c.871C= (p.Leu291=) n.1397C= c.1221C= (p.Pro407=) | |
4 | g.6301007C>G | CA2839263 | WFS1 | c.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 |
4 | g.6301007C>T | CA2839262 | WFS1 | c.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 |
4 | g.6301008T>A | CA356174472 | WFS1 | c.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) | |
4 | g.6301008T>C | CA356174473 | WFS1 | c.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 |
4 | g.6301008T>G | CA356174474 | WFS1 | c.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) | |
4 | g.6301008T= | CA1435772538 | WFS1 | c.1249T= (p.Tyr417=) c.1190T= c.1213T= (p.Tyr405=) c.964T= (p.Tyr322=) c.872T= (p.Leu291=) n.1398T= c.1222T= (p.Tyr408=) | |
4 | g.6301009A= | CA1435772540 | WFS1 | c.1250A= (p.Tyr417=) c.1191A= c.1214A= (p.Tyr405=) c.965A= (p.Tyr322=) c.873A= (p.Leu291=) n.1399A= c.1223A= (p.Tyr408=) | |
4 | g.6301009A>C | CA356174475 | WFS1 | c.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 |
4 | g.6301009A>G | CA2839264 | WFS1 | c.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 |
4 | g.6301009A>T | CA356174476 | WFS1 | c.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 |
4 | g.6301010T>A | CA356174477 | WFS1 | c.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) | |
4 | g.6301010T>C | CA438368179 | WFS1 | c.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 |
4 | g.6301010T>G | CA356174478 | WFS1 | c.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) | |
4 | g.6301010T= | CA1435772542 | WFS1 | c.1251T= (p.Tyr417=) c.1192T= c.1215T= (p.Tyr405=) c.966T= (p.Tyr322=) c.874T= (p.Cys292=) n.1400T= c.1224T= (p.Tyr408=) | |
4 | g.6301010_6301011insAGA | CA2760284784 | WFS1 | c.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) | |
4 | g.6301011G>A | CA91796236 | WFS1 | c.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 |
4 | g.6301011G>C | CA356174479 | WFS1 | c.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 |
4 | g.6301011G= | CA1435772543 | WFS1 | c.1252G= (p.Ala418=) c.1193G= c.1216G= (p.Ala406=) c.967G= (p.Ala323=) c.875G= (p.Cys292=) n.1401G= c.1225G= (p.Ala409=) | |
4 | g.6301011G>T | CA356174480 | WFS1 | c.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) | |
4 | g.6301012C>A | CA356174481 | WFS1 | c.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 |
4 | g.6301012C= | CA1435772546 | WFS1 | c.1253C= (p.Ala418=) c.1194C= c.1217C= (p.Ala406=) c.968C= (p.Ala323=) c.876C= (p.Cys292=) n.1402C= c.1226C= (p.Ala409=) | |
4 | g.6301012C>G | CA356174482 | WFS1 | c.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 |
4 | g.6301012C>T | CA356174483 | WFS1 | c.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 |
4 | g.6301013C>A | CA438368184 | WFS1 | c.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 |
4 | g.6301013C= | CA1435772547 | WFS1 | c.1254C= (p.Ala418=) c.1195C= c.1218C= (p.Ala406=) c.969C= (p.Ala323=) c.877C= (p.Pro293=) n.1403C= c.1227C= (p.Ala409=) | |
4 | g.6301013C>G | CA438368185 | WFS1 | c.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 |
4 | g.6301013C>T | CA438368186 | WFS1 | c.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 |
4 | g.6301014C>A | CA356174484 | WFS1 | c.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) | |
4 | g.6301014C= | CA1435772549 | WFS1 | c.1255C= (p.His419=) c.1196C= c.1219C= (p.His407=) c.970C= (p.His324=) c.878C= (p.Pro293=) n.1404C= c.1228C= (p.His410=) | |
4 | g.6301014C>G | CA2839265 | WFS1 | c.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 |
4 | g.6301014C>T | CA179639 | WFS1 | c.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 |
4 | g.6301015A= | CA1435772551 | WFS1 | c.1256A= (p.His419=) c.1197A= c.1220A= (p.His407=) c.971A= (p.His324=) c.879A= (p.Pro293=) n.1405A= c.1229A= (p.His410=) | |
4 | g.6301015A>C | CA356174485 | WFS1 | c.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 |
4 | g.6301015A>G | CA2839266 | WFS1 | c.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 |
4 | g.6301015A>T | CA356174486 | WFS1 | c.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) | |
4 | g.6301016T>A | CA356174487 | WFS1 | c.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) | |
4 | g.6301016T>C | CA438368189 | WFS1 | c.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 |
4 | g.6301016T>G | CA2839267 | WFS1 | c.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 |
4 | g.6301016T= | CA1435772553 | WFS1 | c.1257T= (p.His419=) c.1198T= c.1221T= (p.His407=) c.972T= (p.His324=) c.880T= (p.Phe294=) n.1406T= c.1230T= (p.His410=) | |
4 | g.6301017T>A | CA356174488 | WFS1 | c.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) | |
4 | g.6301017T>C | CA356174490 | WFS1 | c.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) | |
4 | g.6301017T>G | CA356174489 | WFS1 | c.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) | |
4 | g.6301018T>A | CA356174491 | WFS1 | c.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) | |
4 | g.6301018T>C | CA356174492 | WFS1 | c.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) | |
4 | g.6301018T>G | CA356174493 | WFS1 | c.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 |
4 | g.6301018T= | CA1435772555 | WFS1 | c.1259T= (p.Phe420=) c.1200T= c.1223T= (p.Phe408=) c.974T= (p.Phe325=) c.882T= (p.Phe294=) n.1408T= c.1232T= (p.Phe411=) | |
4 | g.6301019C>A | CA356174494 | WFS1 | c.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) | |
4 | g.6301019C= | CA1435772560 | WFS1 | c.1260C= (p.Phe420=) c.1201C= c.1224C= (p.Phe408=) c.975C= (p.Phe325=) c.883C= (p.Pro295=) n.1409C= c.1233C= (p.Phe411=) | |
4 | g.6301019C>G | CA356174495 | WFS1 | c.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) | |
4 | g.6301019C>T | CA2839268 | WFS1 | c.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 |
4 | g.6301020C>A | CA356174496 | WFS1 | c.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) | |
4 | g.6301020C= | CA1435772561 | WFS1 | c.1261C= (p.Leu421=) c.1202C= c.1225C= (p.Leu409=) c.976C= (p.Leu326=) c.884C= (p.Pro295=) n.1410C= c.1234C= (p.Leu412=) | |
4 | g.6301020C>G | CA356174497 | WFS1 | c.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) | |
4 | g.6301020C>T | CA2839269 | WFS1 | c.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 |
4 | g.6301021T>A | CA356174498 | WFS1 | c.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) | |
4 | g.6301021T>C | CA356174499 | WFS1 | c.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) | |
4 | g.6301021T>G | CA356174500 | WFS1 | c.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) | |
4 | g.6301022G>A | CA2839271 | WFS1 | c.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 |
4 | g.6301022G>C | CA91796237 | WFS1 | c.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 |
4 | g.6301022G= | CA1435772565 | WFS1 | c.1263G= (p.Leu421=) c.1204G= c.1227G= (p.Leu409=) c.978G= (p.Leu326=) c.886G= (p.Ala296=) n.1412G= c.1236G= (p.Leu412=) | |
4 | g.6301022G>T | CA438368192 | WFS1 | c.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=) | |
4 | g.6301022_6301026delinsGCTCT | CA1435772566 | WFS1 | c.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=) | |
4 | g.6301023del | CA2586973610 | WFS1 | c.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 |
4 | g.6301023C>A | CA356174501 | WFS1 | c.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) | |
4 | g.6301023C= | CA1435772571 | WFS1 | c.1264C= (p.Leu422=) c.1205C= c.1228C= (p.Leu410=) c.979C= (p.Leu327=) c.887C= (p.Ala296=) n.1413C= c.1237C= (p.Leu413=) | |
4 | g.6301023C>G | CA356174502 | WFS1 | c.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 |
4 | g.6301023C>T | CA91796238 | WFS1 | c.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 |
4 | g.6301027_6301028del | CA549707907 | WFS1 | c.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 |
4 | g.6301025_6301028del | CA2839270 | WFS1 | c.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 |
4 | g.6301024T>A | CA356174503 | WFS1 | c.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) | |
4 | g.6301024T>C | CA356174504 | WFS1 | c.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 |
4 | g.6301024T>G | CA356174505 | WFS1 | c.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) | |
4 | g.6301025C>A | CA438368196 | WFS1 | c.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=) | |
4 | g.6301025C= | CA1435772574 | WFS1 | c.1266C= (p.Leu422=) c.1207C= c.1230C= (p.Leu410=) c.981C= (p.Leu327=) c.889C= (p.Leu297=) n.1415C= c.1239C= (p.Leu413=) | |
4 | g.6301025C>G | CA2839272 | WFS1 | c.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 |
4 | g.6301025C>T | CA2839273 | WFS1 | c.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 |
4 | g.6301025_6301029delinsCTCTG | CA1435772573 | WFS1 | c.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=) | |
4 | g.6301026T>A | CA356174506 | WFS1 | c.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) | |
4 | g.6301026T>C | CA356174507 | WFS1 | c.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 |
4 | g.6301026T>G | CA356174508 | WFS1 | c.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) | |
4 | g.6301026T= | CA1435772577 | WFS1 | c.1267T= (p.Ser423=) c.1208T= c.1231T= (p.Ser411=) c.982T= (p.Ser328=) c.890T= (p.Leu297=) n.1416T= c.1240T= (p.Ser414=) | |
4 | g.6301029_6301032del | CA2839274 | WFS1 | c.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 |
4 | g.6301027C>A | CA356174509 | WFS1 | c.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 |
4 | g.6301027C= | CA1435772579 | WFS1 | c.1268C= (p.Ser423=) c.1209C= c.1232C= (p.Ser411=) c.983C= (p.Ser328=) c.891C= (p.Leu297=) n.1417C= c.1241C= (p.Ser414=) | |
4 | g.6301027C>G | CA356174510 | WFS1 | c.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 |
4 | g.6301027C>T | CA91796239 | WFS1 | c.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 |
4 | g.6301028T>A | CA438368198 | WFS1 | c.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=) | |
4 | g.6301028T>C | CA438368199 | WFS1 | c.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=) | |
4 | g.6301028T>G | CA2839275 | WFS1 | c.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 |
4 | g.6301028T= | CA1435772582 | WFS1 | c.1269T= (p.Ser423=) c.1210T= c.1233T= (p.Ser411=) c.984T= (p.Ser328=) c.892T= (p.Cys298=) n.1418T= c.1242T= (p.Ser414=) | |
4 | g.6301028_6301037delinsTGTCTTCTTC | CA1435772583 | WFS1 | c.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=) | |
4 | g.6301029G>A | CA2839276 | WFS1 | c.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 |
4 | g.6301029G>C | CA232842 | WFS1 | c.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 |
4 | g.6301029G= | CA1435772587 | WFS1 | c.1270G= (p.Val424=) c.1211G= c.1234G= (p.Val412=) c.985G= (p.Val329=) c.893G= (p.Cys298=) n.1419G= c.1243G= (p.Val415=) | |
4 | g.6301029G>T | CA356174511 | WFS1 | c.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) | |
4 | g.6301029_6301032delinsGTCT | CA1435772590 | WFS1 | c.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=) | |
4 | g.6301032_6301040del | CA1435772586 | WFS1 | c.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 |
4 | g.6301030T>A | CA2839277 | WFS1 | c.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 |
4 | g.6301030T>C | CA322524 | WFS1 | c.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 |
4 | g.6301030T>G | CA356174512 | WFS1 | c.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 |
4 | g.6301030T= | CA1435772595 | WFS1 | c.1271T= (p.Val424=) c.1212T= c.1235T= (p.Val412=) c.986T= (p.Val329=) c.894T= (p.Cys298=) n.1420T= c.1244T= (p.Val415=) | |
4 | g.6301035_6301037del | CA277124 | WFS1 | c.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 |
4 | g.6301031C>A | CA438368202 | WFS1 | c.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=) | |
4 | g.6301031C= | CA1435772598 | WFS1 | c.1272C= (p.Val424=) c.1213C= c.1236C= (p.Val412=) c.987C= (p.Val329=) c.895C= (p.Leu299=) n.1421C= c.1245C= (p.Val415=) | |
4 | g.6301031C>G | CA438368203 | WFS1 | c.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=) | |
4 | g.6301031C>T | CA2839278 | WFS1 | c.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 |
4 | g.6301032T>A | CA356174513 | WFS1 | c.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) | |
4 | g.6301032T>C | CA356174514 | WFS1 | c.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 |
4 | g.6301032T>G | CA179641 | WFS1 | c.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 |
4 | g.6301032T= | CA1435772601 | WFS1 | c.1273T= (p.Phe425=) c.1214T= c.1237T= (p.Phe413=) c.988T= (p.Phe330=) c.896T= (p.Leu299=) n.1422T= c.1246T= (p.Phe416=) | |
4 | g.6301033dup | CA2840306457 | WFS1 | c.1274dup (p.Phe426LeufsTer?) c.1215dup c.1238dup (p.Phe414LeufsTer?) c.989dup (p.Phe331LeufsTer?) c.897dup (p.Leu300SerfsTer29) n.1423dup c.1247dup (p.Phe417LeufsTer?) | |
4 | g.6301032_6301033insAG | CA2760284853 | WFS1 | c.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) | |
4 | g.6301033T>A | CA356174515 | WFS1 | c.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) | |
4 | g.6301033T>C | CA356174516 | WFS1 | c.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) | |
4 | g.6301033T>G | CA356174517 | WFS1 | c.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) | |
4 | g.6301034_6301035dup | CA1435772604 | WFS1 | c.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 |
4 | g.6301038_6301046dup | CA2573052346 | WFS1 | c.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 |
4 | g.6301034C>A | CA356174518 | WFS1 | c.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) | |
4 | g.6301034C= | CA1435772606 | WFS1 | c.1275C= (p.Phe425=) c.1216C= c.1239C= (p.Phe413=) c.990C= (p.Phe330=) c.898C= (p.Leu300=) n.1424C= c.1248C= (p.Phe416=) | |
4 | g.6301034C>G | CA356174519 | WFS1 | c.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) | |
4 | g.6301034C>T | CA438368206 | WFS1 | c.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 |
4 | g.6301035T>A | CA356174520 | WFS1 | c.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) | |
4 | g.6301035T>C | CA2839279 | WFS1 | c.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 |
4 | g.6301035T>G | CA356174521 | WFS1 | c.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 |
4 | g.6301035T= | CA1435772609 | WFS1 | c.1276T= (p.Phe426=) c.1217T= c.1240T= (p.Phe414=) c.991T= (p.Phe331=) c.899T= (p.Leu300=) n.1425T= c.1249T= (p.Phe417=) | |
4 | g.6301035_6301038delinsTTCG | CA1435772608 | WFS1 | c.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=) | |
4 | g.6301036T>A | CA356174522 | WFS1 | c.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) | |
4 | g.6301036T>C | CA356174523 | WFS1 | c.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) | |
4 | g.6301036T>G | CA356174524 | WFS1 | c.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) | |
4 | g.6301038_6301040del | CA324375 | WFS1 | c.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 |
4 | g.6301037C>A | CA356174525 | WFS1 | c.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 |
4 | g.6301037C= | CA1435772613 | WFS1 | c.1278C= (p.Phe426=) c.1219C= c.1242C= (p.Phe414=) c.993C= (p.Phe331=) c.901C= (p.Arg301=) n.1427C= c.1251C= (p.Phe417=) | |
4 | g.6301037C>G | CA356174526 | WFS1 | c.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) | |
4 | g.6301037C>T | CA2839280 | WFS1 | c.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 |
4 | g.6301038G>A | CA2839281 | WFS1 | c.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 |
4 | g.6301038G>C | CA2839282 | WFS1 | c.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 |
4 | g.6301038G= | CA1435772615 | WFS1 | c.1279G= (p.Val427=) c.1220G= c.1243G= (p.Val415=) c.994G= (p.Val332=) c.902G= (p.Arg301=) n.1428G= c.1252G= (p.Val418=) | |
4 | g.6301038G>T | CA356174527 | WFS1 | c.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 |
4 | g.6301039T>A | CA356174529 | WFS1 | c.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) | |
4 | g.6301039T>C | CA356174528 | WFS1 | c.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) | |
4 | g.6301039T>G | CA356174530 | WFS1 | c.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) | |
4 | g.6301040C>A | CA438368211 | WFS1 | c.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=) | |
4 | g.6301040C= | CA1435772617 | WFS1 | c.1281C= (p.Val427=) c.1222C= c.1245C= (p.Val415=) c.996C= (p.Val332=) c.904C= (p.His302=) n.1430C= c.1254C= (p.Val418=) | |
4 | g.6301040C>G | CA438368212 | WFS1 | c.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=) | |
4 | g.6301040C>T | CA438368213 | WFS1 | c.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 |
4 | g.6301044_6301058dup | CA2669843420 | WFS1 | c.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 |
4 | g.6301041A= | CA1435772619 | WFS1 | c.1282A= (p.Ile428=) c.1223A= c.1246A= (p.Ile416=) c.997A= (p.Ile333=) c.905A= (p.His302=) n.1431A= c.1255A= (p.Ile419=) | |
4 | g.6301041A>C | CA91796240 | WFS1 | c.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 |
4 | g.6301041A>G | CA356174532 | WFS1 | c.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 |
4 | g.6301041A>T | CA356174531 | WFS1 | c.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) | |
4 | g.6301042T>A | CA356174533 | WFS1 | c.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 |
4 | g.6301042T>C | CA356174535 | WFS1 | c.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 |
4 | g.6301042T>G | CA356174534 | WFS1 | c.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) | |
4 | g.6301042T= | CA1435772620 | WFS1 | c.1283T= (p.Ile428=) c.1224T= c.1247T= (p.Ile416=) c.998T= (p.Ile333=) c.906T= (p.His302=) n.1432T= c.1256T= (p.Ile419=) | |
4 | g.6301045_6301047del | CA2580616071 | WFS1 | c.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 |
4 | g.6301043C>A | CA438368216 | WFS1 | c.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=) | |
4 | g.6301043C= | CA1435772622 | WFS1 | c.1284C= (p.Ile428=) c.1225C= c.1248C= (p.Ile416=) c.999C= (p.Ile333=) c.907C= (p.Leu303=) n.1433C= c.1257C= (p.Ile419=) | |
4 | g.6301043C>G | CA356174536 | WFS1 | c.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 |
4 | g.6301043C>T | CA438368215 | WFS1 | c.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 |
4 | g.6301044T>A | CA356174539 | WFS1 | c.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 |
4 | g.6301044T>C | CA356174537 | WFS1 | c.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) | |
4 | g.6301044T>G | CA356174538 | WFS1 | c.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) | |
4 | g.6301044T= | CA1435772623 | WFS1 | c.1285T= (p.Phe429=) c.1226T= c.1249T= (p.Phe417=) c.1000T= (p.Phe334=) c.908T= (p.Leu303=) n.1434T= c.1258T= (p.Phe420=) | |
4 | g.6301045T>A | CA356174540 | WFS1 | c.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) | |
4 | g.6301045T>C | CA2839283 | WFS1 | c.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 |
4 | g.6301045T>G | CA356174541 | WFS1 | c.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) | |
4 | g.6301045T= | CA1435772625 | WFS1 | c.1286T= (p.Phe429=) c.1227T= c.1250T= (p.Phe417=) c.1001T= (p.Phe334=) c.909T= (p.Leu303=) n.1435T= c.1259T= (p.Phe420=) | |
4 | g.6301046del | CA2578035789 | WFS1 | c.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 |
4 | g.6301046C>A | CA356174542 | WFS1 | c.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) | |
4 | g.6301046C= | CA1435772627 | WFS1 | c.1287C= (p.Phe429=) c.1228C= c.1251C= (p.Phe417=) c.1002C= (p.Phe334=) c.910C= (p.Leu304=) n.1436C= c.1260C= (p.Phe420=) | |
4 | g.6301046C>G | CA356174543 | WFS1 | c.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 |
4 | g.6301046C>T | CA2839284 | WFS1 | c.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 |
4 | g.6301046_6301047delinsG | CA2586973611 | WFS1 | c.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) | |
4 | g.6301048_6301050del | CA2578035790 | WFS1 | c.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 |
4 | g.6301047T>A | CA356174544 | WFS1 | c.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) | |
4 | g.6301047T>C | CA356174545 | WFS1 | c.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) | |
4 | g.6301047T>G | CA356174546 | WFS1 | c.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 |
4 | g.6301048C>A | CA2839285 | WFS1 | c.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 |
4 | g.6301048C= | CA1435772629 | WFS1 | c.1289C= (p.Ser430=) c.1230C= c.1253C= (p.Ser418=) c.1004C= (p.Ser335=) c.912C= (p.Leu304=) n.1438C= c.1262C= (p.Ser421=) | |
4 | g.6301048C>G | CA356174547 | WFS1 | c.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 |
4 | g.6301048C>T | CA356174548 | WFS1 | c.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 |
4 | g.6301050_6301055dup | CA2669843421 | WFS1 | c.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 |
4 | g.6301048_6301049insTCT | CA2586973612 | WFS1 | c.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) | |
4 | g.6301049C>A | CA438368385 | WFS1 | c.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=) | |
4 | g.6301049C= | CA1435772630 | WFS1 | c.1290C= (p.Ser430=) c.1231C= c.1254C= (p.Ser418=) c.1005C= (p.Ser335=) c.913C= (p.Leu305=) n.1439C= c.1263C= (p.Ser421=) | |
4 | g.6301049C>G | CA438368386 | WFS1 | c.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=) | |
4 | g.6301049C>T | CA91796241 | WFS1 | c.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 |
4 | g.6301050T>A | CA356174549 | WFS1 | c.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) | |
4 | g.6301050T>C | CA356174550 | WFS1 | c.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 |
4 | g.6301050T>G | CA356174551 | WFS1 | c.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) | |
4 | g.6301050T= | CA1435772631 | WFS1 | c.1291T= (p.Phe431=) c.1232T= c.1255T= (p.Phe419=) c.1006T= (p.Phe336=) c.914T= (p.Leu305=) n.1440T= c.1264T= (p.Phe422=) | |
4 | g.6301051T>A | CA356174552 | WFS1 | c.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 |
4 | g.6301051T>C | CA356174553 | WFS1 | c.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) | |
4 | g.6301051T>G | CA356174554 | WFS1 | c.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) | |
4 | g.6301051T= | CA1435772633 | WFS1 | c.1292T= (p.Phe431=) c.1233T= c.1256T= (p.Phe419=) c.1007T= (p.Phe336=) c.915T= (p.Leu305=) n.1441T= c.1265T= (p.Phe422=) | |
4 | g.6301052C>A | CA356174555 | WFS1 | c.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 |
4 | g.6301052C= | CA1435772634 | WFS1 | c.1293C= (p.Phe431=) c.1234C= c.1257C= (p.Phe419=) c.1008C= (p.Phe336=) c.916C= (p.Pro306=) n.1442C= c.1266C= (p.Phe422=) | |
4 | g.6301052C>G | CA356174556 | WFS1 | c.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) | |
4 | g.6301052C>T | CA438368393 | WFS1 | c.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 |
4 | g.6301055dup | CA2586973613 | WFS1 | c.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 |
4 | g.6301053C>A | CA356174557 | WFS1 | c.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) | |
4 | g.6301053C>G | CA356174558 | WFS1 | c.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) | |
4 | g.6301053C>T | CA356174559 | WFS1 | c.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 |
4 | g.6301054C>A | CA356174561 | WFS1 | c.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) | |
4 | g.6301054C>G | CA356174562 | WFS1 | c.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) | |
4 | g.6301054C>T | CA356174560 | WFS1 | c.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 |
4 | g.6301055C>A | CA438368396 | WFS1 | c.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=) | |
4 | g.6301055C= | CA1435772636 | WFS1 | c.1296C= (p.Pro432=) c.1237C= c.1260C= (p.Pro420=) c.1011C= (p.Pro337=) c.919C= (p.His307=) n.1445C= c.1269C= (p.Pro423=) | |
4 | g.6301055C>G | CA438368397 | WFS1 | c.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=) | |
4 | g.6301055C>T | CA438368398 | WFS1 | c.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 |
4 | g.6301056A= | CA1435772638 | WFS1 | c.1297A= (p.Ile433=) c.1238A= c.1261A= (p.Ile421=) c.1012A= (p.Ile338=) c.920A= (p.His307=) n.1446A= c.1270A= (p.Ile424=) | |
4 | g.6301056A>C | CA2839286 | WFS1 | c.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 |
4 | g.6301056A>G | CA179643 | WFS1 | c.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 |
4 | g.6301056A>T | CA356174563 | WFS1 | c.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) | |
4 | g.6301057T>A | CA356174564 | WFS1 | c.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) | |
4 | g.6301057T>C | CA356174565 | WFS1 | c.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) | |
4 | g.6301057T>G | CA356174566 | WFS1 | c.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 |
4 | g.6301058C>A | CA438368399 | WFS1 | c.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=) | |
4 | g.6301058C= | CA1435772640 | WFS1 | c.1299C= (p.Ile433=) c.1240C= c.1263C= (p.Ile421=) c.1014C= (p.Ile338=) c.922C= (p.Arg308=) n.1448C= c.1272C= (p.Ile424=) | |
4 | g.6301058C>G | CA2839287 | WFS1 | c.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 |
4 | g.6301058C>T | CA2839288 | WFS1 | c.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 |
4 | g.6301059G>A | CA2839289 | WFS1 | c.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 |
4 | g.6301059G>C | CA356174567 | WFS1 | c.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) | |
4 | g.6301059G= | CA1435772642 | WFS1 | c.1300G= (p.Ala434=) c.1241G= c.1264G= (p.Ala422=) c.1015G= (p.Ala339=) c.923G= (p.Arg308=) n.1449G= c.1273G= (p.Ala425=) | |
4 | g.6301059G>T | CA2839290 | WFS1 | c.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 |
4 | g.6301062_6301134dup | CA2669843422 | WFS1 | c.1303_1375dup (p.Leu459GlnfsTer?) c.1244_1316dup c.1267_1339dup (p.Leu447GlnfsTer?) c.1018_1090dup (p.Leu364GlnfsTer?) c.926_998dup (p.Glu334AlafsTer19) n.1452_1524dup c.1276_1348dup (p.Leu450GlnfsTer?) | gnomAD v4 |
4 | g.6301060C>A | CA356174568 | WFS1 | c.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) | |
4 | g.6301060C= | CA1435772644 | WFS1 | c.1301C= (p.Ala434=) c.1242C= c.1265C= (p.Ala422=) c.1016C= (p.Ala339=) c.924C= (p.Arg308=) n.1450C= c.1274C= (p.Ala425=) | |
4 | g.6301060C>G | CA356174569 | WFS1 | c.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) | |
4 | g.6301060C>T | CA2839291 | WFS1 | c.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 |
4 | g.6301061C>A | CA438368405 | WFS1 | c.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 |
4 | g.6301061C>G | CA438368407 | WFS1 | c.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=) | |
4 | g.6301061C>T | CA438368408 | WFS1 | c.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=) | |
4 | g.6301062A>C | CA356174570 | WFS1 | c.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) | |
4 | g.6301062A>G | CA356174571 | WFS1 | c.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 |
4 | g.6301062A>T | CA356174572 | WFS1 | c.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) | |
4 | g.6301063G>A | CA91796242 | WFS1 | c.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 |
4 | g.6301063G>C | CA356174573 | WFS1 | c.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) | |
4 | g.6301063G= | CA1435772646 | WFS1 | c.1304G= (p.Ser435=) c.1245G= c.1268G= (p.Ser423=) c.1019G= (p.Ser340=) c.927G= (p.Gln309=) n.1453G= c.1277G= (p.Ser426=) | |
4 | g.6301063G>T | CA356174574 | WFS1 | c.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) | |
4 | g.6301064C>A | CA356174575 | WFS1 | c.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) | |
4 | g.6301064C= | CA1435772648 | WFS1 | c.1305C= (p.Ser435=) c.1246C= c.1269C= (p.Ser423=) c.1020C= (p.Ser340=) c.928C= (p.Gln310=) n.1454C= c.1278C= (p.Ser426=) | |
4 | g.6301064C>G | CA91796243 | WFS1 | c.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 |
4 | g.6301064C>T | CA438368415 | WFS1 | c.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=) | |
4 | g.6301065A= | CA1435772649 | WFS1 | c.1306A= (p.Lys436=) c.1247A= c.1270A= (p.Lys424=) c.1021A= (p.Lys341=) c.929A= (p.Gln310=) n.1455A= c.1279A= (p.Lys427=) | |
4 | g.6301065A>C | CA91796244 | WFS1 | c.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 |
4 | g.6301065A>G | CA356174576 | WFS1 | c.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) | |
4 | g.6301065A>T | CA356174577 | WFS1 | c.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) | |
4 | g.6301066A>C | CA356174578 | WFS1 | c.1307A>C (p.Lys436Thr) c.1248A>C c.1271A>C (p.Lys424Thr) c.1022A>C (p.Lys341Thr) c.930A>C (p.Gln310His) n.1456A>C c.1280A>C (p.Lys427Thr) | gnomAD v4 |
4 | g.6301066A>G | CA356174579 | WFS1 | c.1307A>G (p.Lys436Arg) c.1248A>G c.1271A>G (p.Lys424Arg) c.1022A>G (p.Lys341Arg) c.930A>G (p.Gln310=) n.1456A>G c.1280A>G (p.Lys427Arg) | |
4 | g.6301066A>T | CA356174580 | WFS1 | c.1307A>T (p.Lys436Met) c.1248A>T c.1271A>T (p.Lys424Met) c.1022A>T (p.Lys341Met) c.930A>T (p.Gln310His) n.1456A>T c.1280A>T (p.Lys427Met) | |
4 | g.6301067G>A | CA438368417 | WFS1 | c.1308G>A (p.Lys436=) c.1249G>A c.1272G>A (p.Lys424=) c.1023G>A (p.Lys341=) c.931G>A (p.Gly311Arg) n.1457G>A c.1281G>A (p.Lys427=) | ClinVar dbSNP gnomAD v4 |
4 | g.6301067G>C | CA356174581 | WFS1 | c.1308G>C (p.Lys436Asn) c.1249G>C c.1272G>C (p.Lys424Asn) c.1023G>C (p.Lys341Asn) c.931G>C (p.Gly311Arg) n.1457G>C c.1281G>C (p.Lys427Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301067G= | CA1435772651 | WFS1 | c.1308G= (p.Lys436=) c.1249G= c.1272G= (p.Lys424=) c.1023G= (p.Lys341=) c.931G= (p.Gly311=) n.1457G= c.1281G= (p.Lys427=) | |
4 | g.6301067G>T | CA356174582 | WFS1 | c.1308G>T (p.Lys436Asn) c.1249G>T c.1272G>T (p.Lys424Asn) c.1023G>T (p.Lys341Asn) c.931G>T (p.Gly311Ter) n.1457G>T c.1281G>T (p.Lys427Asn) | |
4 | g.6301068G>A | CA91796245 | WFS1 | c.1309G>A (p.Asp437Asn) c.1250G>A c.1273G>A (p.Asp425Asn) c.1024G>A (p.Asp342Asn) c.932G>A (p.Gly311Glu) n.1458G>A c.1282G>A (p.Asp428Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301068G>C | CA356174583 | WFS1 | c.1309G>C (p.Asp437His) c.1250G>C c.1273G>C (p.Asp425His) c.1024G>C (p.Asp342His) c.932G>C (p.Gly311Ala) n.1458G>C c.1282G>C (p.Asp428His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301068G= | CA1435772653 | WFS1 | c.1309G= (p.Asp437=) c.1250G= c.1273G= (p.Asp425=) c.1024G= (p.Asp342=) c.932G= (p.Gly311=) n.1458G= c.1282G= (p.Asp428=) | |
4 | g.6301068G>T | CA356174584 | WFS1 | c.1309G>T (p.Asp437Tyr) c.1250G>T c.1273G>T (p.Asp425Tyr) c.1024G>T (p.Asp342Tyr) c.932G>T (p.Gly311Val) n.1458G>T c.1282G>T (p.Asp428Tyr) | |
4 | g.6301069A= | CA1435772654 | WFS1 | c.1310A= (p.Asp437=) c.1251A= c.1274A= (p.Asp425=) c.1025A= (p.Asp342=) c.933A= (p.Gly311=) n.1459A= c.1283A= (p.Asp428=) | |
4 | g.6301069A>C | CA2839292 | WFS1 | c.1310A>C (p.Asp437Ala) c.1251A>C c.1274A>C (p.Asp425Ala) c.1025A>C (p.Asp342Ala) c.933A>C (p.Gly311=) n.1459A>C c.1283A>C (p.Asp428Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301069A>G | CA356174585 | WFS1 | c.1310A>G (p.Asp437Gly) c.1251A>G c.1274A>G (p.Asp425Gly) c.1025A>G (p.Asp342Gly) c.933A>G (p.Gly311=) n.1459A>G c.1283A>G (p.Asp428Gly) | |
4 | g.6301069A>T | CA356174586 | WFS1 | c.1310A>T (p.Asp437Val) c.1251A>T c.1274A>T (p.Asp425Val) c.1025A>T (p.Asp342Val) c.933A>T (p.Gly311=) n.1459A>T c.1283A>T (p.Asp428Val) | |
4 | g.6301070C>A | CA356174587 | WFS1 | c.1311C>A (p.Asp437Glu) c.1252C>A c.1275C>A (p.Asp425Glu) c.1026C>A (p.Asp342Glu) c.934C>A (p.Leu312Met) n.1460C>A c.1284C>A (p.Asp428Glu) | |
4 | g.6301070C= | CA1435772656 | WFS1 | c.1311C= (p.Asp437=) c.1252C= c.1275C= (p.Asp425=) c.1026C= (p.Asp342=) c.934C= (p.Leu312=) n.1460C= c.1284C= (p.Asp428=) | |
4 | g.6301070C>G | CA356174588 | WFS1 | c.1311C>G (p.Asp437Glu) c.1252C>G c.1275C>G (p.Asp425Glu) c.1026C>G (p.Asp342Glu) c.934C>G (p.Leu312Val) n.1460C>G c.1284C>G (p.Asp428Glu) | |
4 | g.6301070C>T | CA438368422 | WFS1 | c.1311C>T (p.Asp437=) c.1252C>T c.1275C>T (p.Asp425=) c.1026C>T (p.Asp342=) c.934C>T (p.Leu312=) n.1460C>T c.1284C>T (p.Asp428=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301071T>A | CA356174589 | WFS1 | c.1312T>A (p.Cys438Ser) c.1253T>A c.1276T>A (p.Cys426Ser) c.1027T>A (p.Cys343Ser) c.935T>A (p.Leu312Gln) n.1461T>A c.1285T>A (p.Cys429Ser) | dbSNP |
4 | g.6301071T>C | CA356174590 | WFS1 | c.1312T>C (p.Cys438Arg) c.1253T>C c.1276T>C (p.Cys426Arg) c.1027T>C (p.Cys343Arg) c.935T>C (p.Leu312Pro) n.1461T>C c.1285T>C (p.Cys429Arg) | |
4 | g.6301071T>G | CA356174591 | WFS1 | c.1312T>G (p.Cys438Gly) c.1253T>G c.1276T>G (p.Cys426Gly) c.1027T>G (p.Cys343Gly) c.935T>G (p.Leu312Arg) n.1461T>G c.1285T>G (p.Cys429Gly) | |
4 | g.6301071T= | CA1435772658 | WFS1 | c.1312T= (p.Cys438=) c.1253T= c.1276T= (p.Cys426=) c.1027T= (p.Cys343=) c.935T= (p.Leu312=) n.1461T= c.1285T= (p.Cys429=) | |
4 | g.6301072G>A | CA282568 | WFS1 | c.1313G>A (p.Cys438Tyr) c.1254G>A c.1277G>A (p.Cys426Tyr) c.1028G>A (p.Cys343Tyr) c.936G>A (p.Leu312=) n.1462G>A c.1286G>A (p.Cys429Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301072G>C | CA2839293 | WFS1 | c.1313G>C (p.Cys438Ser) c.1254G>C c.1277G>C (p.Cys426Ser) c.1028G>C (p.Cys343Ser) c.936G>C (p.Leu312=) n.1462G>C c.1286G>C (p.Cys429Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301072G= | CA1435772659 | WFS1 | c.1313G= (p.Cys438=) c.1254G= c.1277G= (p.Cys426=) c.1028G= (p.Cys343=) c.936G= (p.Leu312=) n.1462G= c.1286G= (p.Cys429=) | |
4 | g.6301072G>T | CA356174592 | WFS1 | c.1313G>T (p.Cys438Phe) c.1254G>T c.1277G>T (p.Cys426Phe) c.1028G>T (p.Cys343Phe) c.936G>T (p.Leu312=) n.1462G>T c.1286G>T (p.Cys429Phe) | |
4 | g.6301073C>A | CA356174594 | WFS1 | c.1314C>A (p.Cys438Ter) c.1255C>A c.1278C>A (p.Cys426Ter) c.1029C>A (p.Cys343Ter) c.937C>A (p.His313Asn) n.1463C>A c.1287C>A (p.Cys429Ter) | |
4 | g.6301073C>G | CA356174593 | WFS1 | c.1314C>G (p.Cys438Trp) c.1255C>G c.1278C>G (p.Cys426Trp) c.1029C>G (p.Cys343Trp) c.937C>G (p.His313Asp) n.1463C>G c.1287C>G (p.Cys429Trp) | |
4 | g.6301073C>T | CA438368428 | WFS1 | c.1314C>T (p.Cys438=) c.1255C>T c.1278C>T (p.Cys426=) c.1029C>T (p.Cys343=) c.937C>T (p.His313Tyr) n.1463C>T c.1287C>T (p.Cys429=) | gnomAD v4 |
4 | g.6301074A>C | CA356174595 | WFS1 | c.1315A>C (p.Ile439Leu) c.1256A>C c.1279A>C (p.Ile427Leu) c.1030A>C (p.Ile344Leu) c.938A>C (p.His313Pro) n.1464A>C c.1288A>C (p.Ile430Leu) | |
4 | g.6301074A>G | CA356174596 | WFS1 | c.1315A>G (p.Ile439Val) c.1256A>G c.1279A>G (p.Ile427Val) c.1030A>G (p.Ile344Val) c.938A>G (p.His313Arg) n.1464A>G c.1288A>G (p.Ile430Val) | gnomAD v4 |
4 | g.6301074A>T | CA356174597 | WFS1 | c.1315A>T (p.Ile439Phe) c.1256A>T c.1279A>T (p.Ile427Phe) c.1030A>T (p.Ile344Phe) c.938A>T (p.His313Leu) n.1464A>T c.1288A>T (p.Ile430Phe) | |
4 | g.6301075T>A | CA356174598 | WFS1 | c.1316T>A (p.Ile439Asn) c.1257T>A c.1280T>A (p.Ile427Asn) c.1031T>A (p.Ile344Asn) c.939T>A (p.His313Gln) n.1465T>A c.1289T>A (p.Ile430Asn) | |
4 | g.6301075T>C | CA356174599 | WFS1 | c.1316T>C (p.Ile439Thr) c.1257T>C c.1280T>C (p.Ile427Thr) c.1031T>C (p.Ile344Thr) c.939T>C (p.His313=) n.1465T>C c.1289T>C (p.Ile430Thr) | |
4 | g.6301075T>G | CA356174600 | WFS1 | c.1316T>G (p.Ile439Ser) c.1257T>G c.1280T>G (p.Ile427Ser) c.1031T>G (p.Ile344Ser) c.939T>G (p.His313Gln) n.1465T>G c.1289T>G (p.Ile430Ser) | |
4 | g.6301076C>A | CA438368435 | WFS1 | c.1317C>A (p.Ile439=) c.1258C>A c.1281C>A (p.Ile427=) c.1032C>A (p.Ile344=) c.940C>A (p.Pro314Thr) n.1466C>A c.1290C>A (p.Ile430=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301076C= | CA1435772662 | WFS1 | c.1317C= (p.Ile439=) c.1258C= c.1281C= (p.Ile427=) c.1032C= (p.Ile344=) c.940C= (p.Pro314=) n.1466C= c.1290C= (p.Ile430=) | |
4 | g.6301076C>G | CA2839294 | WFS1 | c.1317C>G (p.Ile439Met) c.1258C>G c.1281C>G (p.Ile427Met) c.1032C>G (p.Ile344Met) c.940C>G (p.Pro314Ala) n.1466C>G c.1290C>G (p.Ile430Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301076C>T | CA91796246 | WFS1 | c.1317C>T (p.Ile439=) c.1258C>T c.1281C>T (p.Ile427=) c.1032C>T (p.Ile344=) c.940C>T (p.Pro314Ser) n.1466C>T c.1290C>T (p.Ile430=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301076_6301077delinsTT | CA645523667 | WFS1 | c.1317_1318delinsTT (p.Pro440Ser) c.1258_1259delinsTT c.1281_1282delinsTT (p.Pro428Ser) c.1032_1033delinsTT (p.Pro345Ser) c.940_941delinsTT (p.Pro314Phe) n.1466_1467delinsTT c.1290_1291delinsTT (p.Pro431Ser) | COSMIC |
4 | g.6301077C>A | CA356174601 | WFS1 | c.1318C>A (p.Pro440Thr) c.1259C>A c.1282C>A (p.Pro428Thr) c.1033C>A (p.Pro345Thr) c.941C>A (p.Pro314His) n.1467C>A c.1291C>A (p.Pro431Thr) | |
4 | g.6301077C>G | CA356174602 | WFS1 | c.1318C>G (p.Pro440Ala) c.1259C>G c.1282C>G (p.Pro428Ala) c.1033C>G (p.Pro345Ala) c.941C>G (p.Pro314Arg) n.1467C>G c.1291C>G (p.Pro431Ala) | ClinVar dbSNP |
4 | g.6301077C>T | CA356174603 | WFS1 | c.1318C>T (p.Pro440Ser) c.1259C>T c.1282C>T (p.Pro428Ser) c.1033C>T (p.Pro345Ser) c.941C>T (p.Pro314Leu) n.1467C>T c.1291C>T (p.Pro431Ser) | gnomAD v4 |
4 | g.6301078C>A | CA356174604 | WFS1 | c.1319C>A (p.Pro440His) c.1260C>A c.1283C>A (p.Pro428His) c.1034C>A (p.Pro345His) c.942C>A (p.Pro314=) n.1468C>A c.1292C>A (p.Pro431His) | |
4 | g.6301078C= | CA1435772664 | WFS1 | c.1319C= (p.Pro440=) c.1260C= c.1283C= (p.Pro428=) c.1034C= (p.Pro345=) c.942C= (p.Pro314=) n.1468C= c.1292C= (p.Pro431=) | |
4 | g.6301078C>G | CA356174605 | WFS1 | c.1319C>G (p.Pro440Arg) c.1260C>G c.1283C>G (p.Pro428Arg) c.1034C>G (p.Pro345Arg) c.942C>G (p.Pro314=) n.1468C>G c.1292C>G (p.Pro431Arg) | ClinVar gnomAD v4 |
4 | g.6301078C>T | CA2839295 | WFS1 | c.1319C>T (p.Pro440Leu) c.1260C>T c.1283C>T (p.Pro428Leu) c.1034C>T (p.Pro345Leu) c.942C>T (p.Pro314=) n.1468C>T c.1292C>T (p.Pro431Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |