Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6301273_6301313delCA2669843437WFS1c.1514_1554del (p.Val505AlafsTer?)
c.1455_1495del
c.1478_1518del (p.Val493AlafsTer?)
c.1229_1269del (p.Val410AlafsTer?)
c.1137_1177del (p.Arg380SerfsTer15)
n.1663_1703del
c.1487_1527del (p.Val496AlafsTer?)
gnomAD v4
4g.6301302_6301314delCA2586973625WFS1c.1543_1555del (p.Val515SerfsTer15)
c.1484_1496del
c.1507_1519del (p.Val503SerfsTer15)
c.1258_1270del (p.Val420SerfsTer15)
c.1166_1178del (p.Arg389LeufsTer?)
n.1692_1704del
c.1516_1528del (p.Val506SerfsTer15)
4g.6301309_6301323dupCA2669843441WFS1c.1550_1564dup (p.Val521_Tyr522insCysLeuLeuTyrVal)
c.1491_1505dup
c.1514_1528dup (p.Val509_Tyr510insCysLeuLeuTyrVal)
c.1265_1279dup (p.Val426_Tyr427insCysLeuLeuTyrVal)
c.1173_1187dup (p.Leu396_Pro397insProAlaLeuCysLeu)
n.1699_1713dup
c.1523_1537dup (p.Val512_Tyr513insCysLeuLeuTyrVal)
gnomAD v4
4g.6301309_6301324delinsGCCTGCTCTATGTCTACA1435773197WFS1c.1550_1565delinsGCCTGCTCTATGTCTA (p.Cys517=)
c.1491_1506delinsGCCTGCTCTATGTCTA
c.1514_1529delinsGCCTGCTCTATGTCTA (p.Cys505=)
c.1265_1280delinsGCCTGCTCTATGTCTA (p.Cys422=)
c.1173_1188delinsGCCTGCTCTATGTCTA (p.Val391=)
n.1699_1714delinsGCCTGCTCTATGTCTA
c.1523_1538delinsGCCTGCTCTATGTCTA (p.Cys508=)
4g.6301310C>ACA356175784WFS1c.1551C>A (p.Cys517Ter)
c.1492C>A
c.1515C>A (p.Cys505Ter)
c.1266C>A (p.Cys422Ter)
c.1174C>A (p.Pro392Thr)
n.1700C>A
c.1524C>A (p.Cys508Ter)
4g.6301310C>GCA356175786WFS1c.1551C>G (p.Cys517Trp)
c.1492C>G
c.1515C>G (p.Cys505Trp)
c.1266C>G (p.Cys422Trp)
c.1174C>G (p.Pro392Ala)
n.1700C>G
c.1524C>G (p.Cys508Trp)
4g.6301310C>TCA438368419WFS1c.1551C>T (p.Cys517=)
c.1492C>T
c.1515C>T (p.Cys505=)
c.1266C>T (p.Cys422=)
c.1174C>T (p.Pro392Ser)
n.1700C>T
c.1524C>T (p.Cys508=)
gnomAD v4
4g.6301320_6301334dupCA549707910WFS1c.1561_1575dup (p.Tyr525_Leu526insValTyrLeuLeuTyr)
c.1502_1516dup
c.1525_1539dup (p.Tyr513_Leu514insValTyrLeuLeuTyr)
c.1276_1290dup (p.Tyr430_Leu431insValTyrLeuLeuTyr)
c.1184_1198dup (p.Leu399_Ser400insCysLeuProAlaLeu)
n.1710_1724dup
c.1534_1548dup (p.Tyr516_Leu517insValTyrLeuLeuTyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301320_6301334delCA2839387WFS1c.1561_1575del (p.Val521_Tyr525del)
c.1502_1516del
c.1525_1539del (p.Val509_Tyr513del)
c.1276_1290del (p.Val426_Tyr430del)
c.1184_1198del (p.Cys395_Leu399del)
n.1710_1724del
c.1534_1548del (p.Val512_Tyr516del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301311C>ACA356175788WFS1c.1552C>A (p.Leu518Met)
c.1493C>A
c.1516C>A (p.Leu506Met)
c.1267C>A (p.Leu423Met)
c.1175C>A (p.Pro392His)
n.1701C>A
c.1525C>A (p.Leu509Met)
4g.6301311C=CA1435773206WFS1c.1552C= (p.Leu518=)
c.1493C=
c.1516C= (p.Leu506=)
c.1267C= (p.Leu423=)
c.1175C= (p.Pro392=)
n.1701C=
c.1525C= (p.Leu509=)
4g.6301311C>GCA356175789WFS1c.1552C>G (p.Leu518Val)
c.1493C>G
c.1516C>G (p.Leu506Val)
c.1267C>G (p.Leu423Val)
c.1175C>G (p.Pro392Arg)
n.1701C>G
c.1525C>G (p.Leu509Val)
4g.6301311C>TCA438368423WFS1c.1552C>T (p.Leu518=)
c.1493C>T
c.1516C>T (p.Leu506=)
c.1267C>T (p.Leu423=)
c.1175C>T (p.Pro392Leu)
n.1701C>T
c.1525C>T (p.Leu509=)
dbSNP gnomAD v4
4g.6301312T>ACA356175791WFS1c.1553T>A (p.Leu518Gln)
c.1494T>A
c.1517T>A (p.Leu506Gln)
c.1268T>A (p.Leu423Gln)
c.1176T>A (p.Pro392=)
n.1702T>A
c.1526T>A (p.Leu509Gln)
4g.6301312T>CCA356175793WFS1c.1553T>C (p.Leu518Pro)
c.1494T>C
c.1517T>C (p.Leu506Pro)
c.1268T>C (p.Leu423Pro)
c.1176T>C (p.Pro392=)
n.1702T>C
c.1526T>C (p.Leu509Pro)
4g.6301312T>GCA356175794WFS1c.1553T>G (p.Leu518Arg)
c.1494T>G
c.1517T>G (p.Leu506Arg)
c.1268T>G (p.Leu423Arg)
c.1176T>G (p.Pro392=)
n.1702T>G
c.1526T>G (p.Leu509Arg)
4g.6301313G>ACA91796314WFS1c.1554G>A (p.Leu518=)
c.1495G>A
c.1518G>A (p.Leu506=)
c.1269G>A (p.Leu423=)
c.1177G>A (p.Ala393Thr)
n.1703G>A
c.1527G>A (p.Leu509=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301313G>CCA438368429WFS1c.1554G>C (p.Leu518=)
c.1495G>C
c.1518G>C (p.Leu506=)
c.1269G>C (p.Leu423=)
c.1177G>C (p.Ala393Pro)
n.1703G>C
c.1527G>C (p.Leu509=)
gnomAD v4
4g.6301313G=CA1435773212WFS1c.1554G= (p.Leu518=)
c.1495G=
c.1518G= (p.Leu506=)
c.1269G= (p.Leu423=)
c.1177G= (p.Ala393=)
n.1703G=
c.1527G= (p.Leu509=)
4g.6301313G>TCA438368432WFS1c.1554G>T (p.Leu518=)
c.1495G>T
c.1518G>T (p.Leu506=)
c.1269G>T (p.Leu423=)
c.1177G>T (p.Ala393Ser)
n.1703G>T
c.1527G>T (p.Leu509=)
gnomAD v4
4g.6301314C>ACA356175798WFS1c.1555C>A (p.Leu519Ile)
c.1496C>A
c.1519C>A (p.Leu507Ile)
c.1270C>A (p.Leu424Ile)
c.1178C>A (p.Ala393Asp)
n.1704C>A
c.1528C>A (p.Leu510Ile)
4g.6301314C=CA1435773214WFS1c.1555C= (p.Leu519=)
c.1496C=
c.1519C= (p.Leu507=)
c.1270C= (p.Leu424=)
c.1178C= (p.Ala393=)
n.1704C=
c.1528C= (p.Leu510=)
4g.6301314C>GCA356175799WFS1c.1555C>G (p.Leu519Val)
c.1496C>G
c.1519C>G (p.Leu507Val)
c.1270C>G (p.Leu424Val)
c.1178C>G (p.Ala393Gly)
n.1704C>G
c.1528C>G (p.Leu510Val)
4g.6301314C>TCA356175801WFS1c.1555C>T (p.Leu519Phe)
c.1496C>T
c.1519C>T (p.Leu507Phe)
c.1270C>T (p.Leu424Phe)
c.1178C>T (p.Ala393Val)
n.1704C>T
c.1528C>T (p.Leu510Phe)
dbSNP gnomAD v2 gnomAD v4
4g.6301315T>ACA356175806WFS1c.1556T>A (p.Leu519His)
c.1497T>A
c.1520T>A (p.Leu507His)
c.1271T>A (p.Leu424His)
c.1179T>A (p.Ala393=)
n.1705T>A
c.1529T>A (p.Leu510His)
4g.6301315T>CCA91796320WFS1c.1556T>C (p.Leu519Pro)
c.1497T>C
c.1520T>C (p.Leu507Pro)
c.1271T>C (p.Leu424Pro)
c.1179T>C (p.Ala393=)
n.1705T>C
c.1529T>C (p.Leu510Pro)
dbSNP
4g.6301315T>GCA356175803WFS1c.1556T>G (p.Leu519Arg)
c.1497T>G
c.1520T>G (p.Leu507Arg)
c.1271T>G (p.Leu424Arg)
c.1179T>G (p.Ala393=)
n.1705T>G
c.1529T>G (p.Leu510Arg)
4g.6301315T=CA1435773215WFS1c.1556T= (p.Leu519=)
c.1497T=
c.1520T= (p.Leu507=)
c.1271T= (p.Leu424=)
c.1179T= (p.Ala393=)
n.1705T=
c.1529T= (p.Leu510=)
4g.6301316C>ACA438368438WFS1c.1557C>A (p.Leu519=)
c.1498C>A
c.1521C>A (p.Leu507=)
c.1272C>A (p.Leu424=)
c.1180C>A (p.Leu394Ile)
n.1706C>A
c.1530C>A (p.Leu510=)
4g.6301316C=CA1435773217WFS1c.1557C= (p.Leu519=)
c.1498C=
c.1521C= (p.Leu507=)
c.1272C= (p.Leu424=)
c.1180C= (p.Leu394=)
n.1706C=
c.1530C= (p.Leu510=)
4g.6301316C>GCA2839389WFS1c.1557C>G (p.Leu519=)
c.1498C>G
c.1521C>G (p.Leu507=)
c.1272C>G (p.Leu424=)
c.1180C>G (p.Leu394Val)
n.1706C>G
c.1530C>G (p.Leu510=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301316C>TCA438368439WFS1c.1557C>T (p.Leu519=)
c.1498C>T
c.1521C>T (p.Leu507=)
c.1272C>T (p.Leu424=)
c.1180C>T (p.Leu394=)
n.1706C>T
c.1530C>T (p.Leu510=)
gnomAD v2 gnomAD v4
4g.6301316_6301318delinsCTACA1435773219WFS1c.1557_1559delinsCTA (p.Leu519=)
c.1498_1500delinsCTA
c.1521_1523delinsCTA (p.Leu507=)
c.1272_1274delinsCTA (p.Leu424=)
c.1180_1182delinsCTA (p.Leu394=)
n.1706_1708delinsCTA
c.1530_1532delinsCTA (p.Leu510=)
4g.6301317T>ACA356175808WFS1c.1558T>A (p.Tyr520Asn)
c.1499T>A
c.1522T>A (p.Tyr508Asn)
c.1273T>A (p.Tyr425Asn)
c.1181T>A (p.Leu394Gln)
n.1707T>A
c.1531T>A (p.Tyr511Asn)
4g.6301317T>CCA356175811WFS1c.1558T>C (p.Tyr520His)
c.1499T>C
c.1522T>C (p.Tyr508His)
c.1273T>C (p.Tyr425His)
c.1181T>C (p.Leu394Pro)
n.1707T>C
c.1531T>C (p.Tyr511His)
dbSNP gnomAD v2 gnomAD v4
4g.6301317T>GCA356175813WFS1c.1558T>G (p.Tyr520Asp)
c.1499T>G
c.1522T>G (p.Tyr508Asp)
c.1273T>G (p.Tyr425Asp)
c.1181T>G (p.Leu394Arg)
n.1707T>G
c.1531T>G (p.Tyr511Asp)
4g.6301317T=CA1435773227WFS1c.1558T= (p.Tyr520=)
c.1499T=
c.1522T= (p.Tyr508=)
c.1273T= (p.Tyr425=)
c.1181T= (p.Leu394=)
n.1707T=
c.1531T= (p.Tyr511=)
4g.6301318_6301319delCA2839388WFS1c.1559_1560del (p.Tyr520CysfsTer?)
c.1500_1501del
c.1523_1524del (p.Tyr508CysfsTer?)
c.1274_1275del (p.Tyr425CysfsTer?)
c.1182_1183del (p.Cys395SerfsTer13)
n.1708_1709del
c.1532_1533del (p.Tyr511CysfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301318A=CA1435773233WFS1c.1559A= (p.Tyr520=)
c.1500A=
c.1523A= (p.Tyr508=)
c.1274A= (p.Tyr425=)
c.1182A= (p.Leu394=)
n.1708A=
c.1532A= (p.Tyr511=)
4g.6301318A>CCA356175815WFS1c.1559A>C (p.Tyr520Ser)
c.1500A>C
c.1523A>C (p.Tyr508Ser)
c.1274A>C (p.Tyr425Ser)
c.1182A>C (p.Leu394=)
n.1708A>C
c.1532A>C (p.Tyr511Ser)
dbSNP gnomAD v3 gnomAD v4
4g.6301318A>GCA356175816WFS1c.1559A>G (p.Tyr520Cys)
c.1500A>G
c.1523A>G (p.Tyr508Cys)
c.1274A>G (p.Tyr425Cys)
c.1182A>G (p.Leu394=)
n.1708A>G
c.1532A>G (p.Tyr511Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301318A>TCA356175817WFS1c.1559A>T (p.Tyr520Phe)
c.1500A>T
c.1523A>T (p.Tyr508Phe)
c.1274A>T (p.Tyr425Phe)
c.1182A>T (p.Leu394=)
n.1708A>T
c.1532A>T (p.Tyr511Phe)
4g.6301319T>ACA356175819WFS1c.1560T>A (p.Tyr520Ter)
c.1501T>A
c.1524T>A (p.Tyr508Ter)
c.1275T>A (p.Tyr425Ter)
c.1183T>A (p.Cys395Ser)
n.1709T>A
c.1533T>A (p.Tyr511Ter)
4g.6301319T>CCA438368449WFS1c.1560T>C (p.Tyr520=)
c.1501T>C
c.1524T>C (p.Tyr508=)
c.1275T>C (p.Tyr425=)
c.1183T>C (p.Cys395Arg)
n.1709T>C
c.1533T>C (p.Tyr511=)
gnomAD v4
4g.6301319T>GCA356175820WFS1c.1560T>G (p.Tyr520Ter)
c.1501T>G
c.1524T>G (p.Tyr508Ter)
c.1275T>G (p.Tyr425Ter)
c.1183T>G (p.Cys395Gly)
n.1709T>G
c.1533T>G (p.Tyr511Ter)
4g.6301320_6301332delCA2586973626WFS1c.1561_1573del (p.Val521IlefsTer9)
c.1502_1514del
c.1525_1537del (p.Val509IlefsTer9)
c.1276_1288del (p.Val426IlefsTer9)
c.1184_1196del (p.Cys395TyrfsTer?)
n.1710_1722del
c.1534_1546del (p.Val512IlefsTer9)
4g.6301319_6301320insACA2760285106WFS1c.1560_1561insA (p.Val521SerfsTer?)
c.1501_1502insA
c.1524_1525insA (p.Val509SerfsTer?)
c.1275_1276insA (p.Val426SerfsTer?)
c.1183_1184insA (p.Cys395Ter)
n.1709_1710insA
c.1533_1534insA (p.Val512SerfsTer?)
4g.6301320G>ACA356175823WFS1c.1561G>A (p.Val521Ile)
c.1502G>A
c.1525G>A (p.Val509Ile)
c.1276G>A (p.Val426Ile)
c.1184G>A (p.Cys395Tyr)
n.1710G>A
c.1534G>A (p.Val512Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301320G>CCA356175824WFS1c.1561G>C (p.Val521Leu)
c.1502G>C
c.1525G>C (p.Val509Leu)
c.1276G>C (p.Val426Leu)
c.1184G>C (p.Cys395Ser)
n.1710G>C
c.1534G>C (p.Val512Leu)
gnomAD v4
4g.6301320G=CA1435773240WFS1c.1561G= (p.Val521=)
c.1502G=
c.1525G= (p.Val509=)
c.1276G= (p.Val426=)
c.1184G= (p.Cys395=)
n.1710G=
c.1534G= (p.Val512=)
4g.6301320G>TCA356175825WFS1c.1561G>T (p.Val521Phe)
c.1502G>T
c.1525G>T (p.Val509Phe)
c.1276G>T (p.Val426Phe)
c.1184G>T (p.Cys395Phe)
n.1710G>T
c.1534G>T (p.Val512Phe)
gnomAD v4
4g.6301320_6301335delinsGTCTACCTGCTCTATCCA1435773239WFS1c.1561_1576delinsGTCTACCTGCTCTATC (p.Val521=)
c.1502_1517delinsGTCTACCTGCTCTATC
c.1525_1540delinsGTCTACCTGCTCTATC (p.Val509=)
c.1276_1291delinsGTCTACCTGCTCTATC (p.Val426=)
c.1184_1199delinsGTCTACCTGCTCTATC (p.Cys395=)
n.1710_1725delinsGTCTACCTGCTCTATC
c.1534_1549delinsGTCTACCTGCTCTATC (p.Val512=)
4g.6301320_6301335dupCA2586973627WFS1c.1561_1576dup (p.Leu526ArgfsTer34)
c.1502_1517dup
c.1525_1540dup (p.Leu514ArgfsTer34)
c.1276_1291dup (p.Leu431ArgfsTer34)
c.1184_1199dup (p.Leu401SerfsTer13)
n.1710_1725dup
c.1534_1549dup (p.Leu517ArgfsTer34)
4g.6301321T>ACA356175831WFS1c.1562T>A (p.Val521Asp)
c.1503T>A
c.1526T>A (p.Val509Asp)
c.1277T>A (p.Val426Asp)
c.1185T>A (p.Cys395Ter)
n.1711T>A
c.1535T>A (p.Val512Asp)
4g.6301321T>CCA356175828WFS1c.1562T>C (p.Val521Ala)
c.1503T>C
c.1526T>C (p.Val509Ala)
c.1277T>C (p.Val426Ala)
c.1185T>C (p.Cys395=)
n.1711T>C
c.1535T>C (p.Val512Ala)
4g.6301321T>GCA2839391WFS1c.1562T>G (p.Val521Gly)
c.1503T>G
c.1526T>G (p.Val509Gly)
c.1277T>G (p.Val426Gly)
c.1185T>G (p.Cys395Trp)
n.1711T>G
c.1535T>G (p.Val512Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.6301321T=CA1435773241WFS1c.1562T= (p.Val521=)
c.1503T=
c.1526T= (p.Val509=)
c.1277T= (p.Val426=)
c.1185T= (p.Cys395=)
n.1711T=
c.1535T= (p.Val512=)
4g.6301324_6301338delCA2839390WFS1c.1565_1579del (p.Tyr522_Leu526del)
c.1506_1520del
c.1529_1543del (p.Tyr510_Leu514del)
c.1280_1294del (p.Tyr427_Leu431del)
c.1188_1202del (p.Pro397_Leu401del)
n.1714_1728del
c.1538_1552del (p.Tyr513_Leu517del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301322C>ACA438368460WFS1c.1563C>A (p.Val521=)
c.1504C>A
c.1527C>A (p.Val509=)
c.1278C>A (p.Val426=)
c.1186C>A (p.Leu396Ile)
n.1712C>A
c.1536C>A (p.Val512=)
4g.6301322C=CA1435773245WFS1c.1563C= (p.Val521=)
c.1504C=
c.1527C= (p.Val509=)
c.1278C= (p.Val426=)
c.1186C= (p.Leu396=)
n.1712C=
c.1536C= (p.Val512=)
4g.6301322C>GCA2839392WFS1c.1563C>G (p.Val521=)
c.1504C>G
c.1527C>G (p.Val509=)
c.1278C>G (p.Val426=)
c.1186C>G (p.Leu396Val)
n.1712C>G
c.1536C>G (p.Val512=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301322C>TCA438368465WFS1c.1563C>T (p.Val521=)
c.1504C>T
c.1527C>T (p.Val509=)
c.1278C>T (p.Val426=)
c.1186C>T (p.Leu396=)
n.1712C>T
c.1536C>T (p.Val512=)
dbSNP
4g.6301323T>ACA356175833WFS1c.1564T>A (p.Tyr522Asn)
c.1505T>A
c.1528T>A (p.Tyr510Asn)
c.1279T>A (p.Tyr427Asn)
c.1187T>A (p.Leu396Gln)
n.1713T>A
c.1537T>A (p.Tyr513Asn)
4g.6301323T>CCA356175834WFS1c.1564T>C (p.Tyr522His)
c.1505T>C
c.1528T>C (p.Tyr510His)
c.1279T>C (p.Tyr427His)
c.1187T>C (p.Leu396Pro)
n.1713T>C
c.1537T>C (p.Tyr513His)
gnomAD v4
4g.6301323T>GCA356175836WFS1c.1564T>G (p.Tyr522Asp)
c.1505T>G
c.1528T>G (p.Tyr510Asp)
c.1279T>G (p.Tyr427Asp)
c.1187T>G (p.Leu396Arg)
n.1713T>G
c.1537T>G (p.Tyr513Asp)
gnomAD v4
4g.6301324A=CA1435773246WFS1c.1565A= (p.Tyr522=)
c.1506A=
c.1529A= (p.Tyr510=)
c.1280A= (p.Tyr427=)
c.1188A= (p.Leu396=)
n.1714A=
c.1538A= (p.Tyr513=)
4g.6301324A>CCA356175837WFS1c.1565A>C (p.Tyr522Ser)
c.1506A>C
c.1529A>C (p.Tyr510Ser)
c.1280A>C (p.Tyr427Ser)
c.1188A>C (p.Leu396=)
n.1714A>C
c.1538A>C (p.Tyr513Ser)
gnomAD v4
4g.6301324A>GCA2839393WFS1c.1565A>G (p.Tyr522Cys)
c.1506A>G
c.1529A>G (p.Tyr510Cys)
c.1280A>G (p.Tyr427Cys)
c.1188A>G (p.Leu396=)
n.1714A>G
c.1538A>G (p.Tyr513Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301324A>TCA356175839WFS1c.1565A>T (p.Tyr522Phe)
c.1506A>T
c.1529A>T (p.Tyr510Phe)
c.1280A>T (p.Tyr427Phe)
c.1188A>T (p.Leu396=)
n.1714A>T
c.1538A>T (p.Tyr513Phe)
gnomAD v4
4g.6301325C>ACA356175842WFS1c.1566C>A (p.Tyr522Ter)
c.1507C>A
c.1530C>A (p.Tyr510Ter)
c.1281C>A (p.Tyr427Ter)
c.1189C>A (p.Pro397Thr)
n.1715C>A
c.1539C>A (p.Tyr513Ter)
4g.6301325C=CA1435773248WFS1c.1566C= (p.Tyr522=)
c.1507C=
c.1530C= (p.Tyr510=)
c.1281C= (p.Tyr427=)
c.1189C= (p.Pro397=)
n.1715C=
c.1539C= (p.Tyr513=)
4g.6301325C>GCA356175843WFS1c.1566C>G (p.Tyr522Ter)
c.1507C>G
c.1530C>G (p.Tyr510Ter)
c.1281C>G (p.Tyr427Ter)
c.1189C>G (p.Pro397Ala)
n.1715C>G
c.1539C>G (p.Tyr513Ter)
ClinVar gnomAD v4
4g.6301325C>TCA179653WFS1c.1566C>T (p.Tyr522=)
c.1507C>T
c.1530C>T (p.Tyr510=)
c.1281C>T (p.Tyr427=)
c.1189C>T (p.Pro397Ser)
n.1715C>T
c.1539C>T (p.Tyr513=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301326C>ACA356175847WFS1c.1567C>A (p.Leu523Met)
c.1508C>A
c.1531C>A (p.Leu511Met)
c.1282C>A (p.Leu428Met)
c.1190C>A (p.Pro397His)
n.1716C>A
c.1540C>A (p.Leu514Met)
4g.6301326C=CA1435773250WFS1c.1567C= (p.Leu523=)
c.1508C=
c.1531C= (p.Leu511=)
c.1282C= (p.Leu428=)
c.1190C= (p.Pro397=)
n.1716C=
c.1540C= (p.Leu514=)
4g.6301326C>GCA356175845WFS1c.1567C>G (p.Leu523Val)
c.1508C>G
c.1531C>G (p.Leu511Val)
c.1282C>G (p.Leu428Val)
c.1190C>G (p.Pro397Arg)
n.1716C>G
c.1540C>G (p.Leu514Val)
dbSNP gnomAD v3 gnomAD v4
4g.6301326C>TCA2839394WFS1c.1567C>T (p.Leu523=)
c.1508C>T
c.1531C>T (p.Leu511=)
c.1282C>T (p.Leu428=)
c.1190C>T (p.Pro397Leu)
n.1716C>T
c.1540C>T (p.Leu514=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301327T>ACA356175848WFS1c.1568T>A (p.Leu523Gln)
c.1509T>A
c.1532T>A (p.Leu511Gln)
c.1283T>A (p.Leu428Gln)
c.1191T>A (p.Pro397=)
n.1717T>A
c.1541T>A (p.Leu514Gln)
4g.6301327T>CCA356175851WFS1c.1568T>C (p.Leu523Pro)
c.1509T>C
c.1532T>C (p.Leu511Pro)
c.1283T>C (p.Leu428Pro)
c.1191T>C (p.Pro397=)
n.1717T>C
c.1541T>C (p.Leu514Pro)
gnomAD v4
4g.6301327T>GCA356175849WFS1c.1568T>G (p.Leu523Arg)
c.1509T>G
c.1532T>G (p.Leu511Arg)
c.1283T>G (p.Leu428Arg)
c.1191T>G (p.Pro397=)
n.1717T>G
c.1541T>G (p.Leu514Arg)
4g.6301328G>ACA438368473WFS1c.1569G>A (p.Leu523=)
c.1510G>A
c.1533G>A (p.Leu511=)
c.1284G>A (p.Leu428=)
c.1192G>A (p.Ala398Thr)
n.1718G>A
c.1542G>A (p.Leu514=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301328G>CCA438368475WFS1c.1569G>C (p.Leu523=)
c.1510G>C
c.1533G>C (p.Leu511=)
c.1284G>C (p.Leu428=)
c.1192G>C (p.Ala398Pro)
n.1718G>C
c.1542G>C (p.Leu514=)
dbSNP gnomAD v3 gnomAD v4
4g.6301328G=CA1435773253WFS1c.1569G= (p.Leu523=)
c.1510G=
c.1533G= (p.Leu511=)
c.1284G= (p.Leu428=)
c.1192G= (p.Ala398=)
n.1718G=
c.1542G= (p.Leu514=)
4g.6301328G>TCA438368476WFS1c.1569G>T (p.Leu523=)
c.1510G>T
c.1533G>T (p.Leu511=)
c.1284G>T (p.Leu428=)
c.1192G>T (p.Ala398Ser)
n.1718G>T
c.1542G>T (p.Leu514=)
4g.6301329C>ACA356175854WFS1c.1570C>A (p.Leu524Ile)
c.1511C>A
c.1534C>A (p.Leu512Ile)
c.1285C>A (p.Leu429Ile)
c.1193C>A (p.Ala398Asp)
n.1719C>A
c.1543C>A (p.Leu515Ile)
4g.6301329C>GCA356175855WFS1c.1570C>G (p.Leu524Val)
c.1511C>G
c.1534C>G (p.Leu512Val)
c.1285C>G (p.Leu429Val)
c.1193C>G (p.Ala398Gly)
n.1719C>G
c.1543C>G (p.Leu515Val)
4g.6301329C>TCA356175857WFS1c.1570C>T (p.Leu524Phe)
c.1511C>T
c.1534C>T (p.Leu512Phe)
c.1285C>T (p.Leu429Phe)
c.1193C>T (p.Ala398Val)
n.1719C>T
c.1543C>T (p.Leu515Phe)
gnomAD v4
4g.6301330T>ACA356175859WFS1c.1571T>A (p.Leu524His)
c.1512T>A
c.1535T>A (p.Leu512His)
c.1286T>A (p.Leu429His)
c.1194T>A (p.Ala398=)
n.1720T>A
c.1544T>A (p.Leu515His)
4g.6301330T>CCA356175861WFS1c.1571T>C (p.Leu524Pro)
c.1512T>C
c.1535T>C (p.Leu512Pro)
c.1286T>C (p.Leu429Pro)
c.1194T>C (p.Ala398=)
n.1720T>C
c.1544T>C (p.Leu515Pro)
gnomAD v4
4g.6301330T>GCA356175862WFS1c.1571T>G (p.Leu524Arg)
c.1512T>G
c.1535T>G (p.Leu512Arg)
c.1286T>G (p.Leu429Arg)
c.1194T>G (p.Ala398=)
n.1720T>G
c.1544T>G (p.Leu515Arg)
4g.6301331C>ACA438368484WFS1c.1572C>A (p.Leu524=)
c.1513C>A
c.1536C>A (p.Leu512=)
c.1287C>A (p.Leu429=)
c.1195C>A (p.Leu399Ile)
n.1721C>A
c.1545C>A (p.Leu515=)
4g.6301331C=CA1435773258WFS1c.1572C= (p.Leu524=)
c.1513C=
c.1536C= (p.Leu512=)
c.1287C= (p.Leu429=)
c.1195C= (p.Leu399=)
n.1721C=
c.1545C= (p.Leu515=)
4g.6301331C>GCA91796333WFS1c.1572C>G (p.Leu524=)
c.1513C>G
c.1536C>G (p.Leu512=)
c.1287C>G (p.Leu429=)
c.1195C>G (p.Leu399Val)
n.1721C>G
c.1545C>G (p.Leu515=)
dbSNP gnomAD v2 gnomAD v4
4g.6301331C>TCA438368488WFS1c.1572C>T (p.Leu524=)
c.1513C>T
c.1536C>T (p.Leu512=)
c.1287C>T (p.Leu429=)
c.1195C>T (p.Leu399=)
n.1721C>T
c.1545C>T (p.Leu515=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301331_6301344dupCA2695199363WFS1c.1572_1585dup (p.Arg529ProfsTer10)
c.1513_1526dup
c.1536_1549dup (p.Arg517ProfsTer10)
c.1287_1300dup (p.Arg434ProfsTer10)
c.1195_1208dup (p.His404TyrfsTer?)
n.1721_1734dup
c.1545_1558dup (p.Arg520ProfsTer10)
ClinVar
4g.6301332T>ACA356175864WFS1c.1573T>A (p.Tyr525Asn)
c.1514T>A
c.1537T>A (p.Tyr513Asn)
c.1288T>A (p.Tyr430Asn)
c.1196T>A (p.Leu399Gln)
n.1722T>A
c.1546T>A (p.Tyr516Asn)
4g.6301332T>CCA356175866WFS1c.1573T>C (p.Tyr525His)
c.1514T>C
c.1537T>C (p.Tyr513His)
c.1288T>C (p.Tyr430His)
c.1196T>C (p.Leu399Pro)
n.1722T>C
c.1546T>C (p.Tyr516His)
gnomAD v4
4g.6301332T>GCA356175868WFS1c.1573T>G (p.Tyr525Asp)
c.1514T>G
c.1537T>G (p.Tyr513Asp)
c.1288T>G (p.Tyr430Asp)
c.1196T>G (p.Leu399Arg)
n.1722T>G
c.1546T>G (p.Tyr516Asp)
4g.6301333_6301334delCA2586973628WFS1c.1574_1575del (p.Tyr525SerfsTer29)
c.1515_1516del
c.1538_1539del (p.Tyr513SerfsTer29)
c.1289_1290del (p.Tyr430SerfsTer29)
c.1197_1198del (p.Leu401SerfsTer7)
n.1723_1724del
c.1547_1548del (p.Tyr516SerfsTer29)
4g.6301333A=CA1435773264WFS1c.1574A= (p.Tyr525=)
c.1515A=
c.1538A= (p.Tyr513=)
c.1289A= (p.Tyr430=)
c.1197A= (p.Leu399=)
n.1723A=
c.1547A= (p.Tyr516=)
4g.6301333A>CCA321251WFS1c.1574A>C (p.Tyr525Ser)
c.1515A>C
c.1538A>C (p.Tyr513Ser)
c.1289A>C (p.Tyr430Ser)
c.1197A>C (p.Leu399=)
n.1723A>C
c.1547A>C (p.Tyr516Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301333A>GCA2839395WFS1c.1574A>G (p.Tyr525Cys)
c.1515A>G
c.1538A>G (p.Tyr513Cys)
c.1289A>G (p.Tyr430Cys)
c.1197A>G (p.Leu399=)
n.1723A>G
c.1547A>G (p.Tyr516Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301333A>TCA356175869WFS1c.1574A>T (p.Tyr525Phe)
c.1515A>T
c.1538A>T (p.Tyr513Phe)
c.1289A>T (p.Tyr430Phe)
c.1197A>T (p.Leu399=)
n.1723A>T
c.1547A>T (p.Tyr516Phe)
4g.6301334T>ACA356175873WFS1c.1575T>A (p.Tyr525Ter)
c.1516T>A
c.1539T>A (p.Tyr513Ter)
c.1290T>A (p.Tyr430Ter)
c.1198T>A (p.Ser400Thr)
n.1724T>A
c.1548T>A (p.Tyr516Ter)
4g.6301334T>CCA438368496WFS1c.1575T>C (p.Tyr525=)
c.1516T>C
c.1539T>C (p.Tyr513=)
c.1290T>C (p.Tyr430=)
c.1198T>C (p.Ser400Pro)
n.1724T>C
c.1548T>C (p.Tyr516=)
gnomAD v4
4g.6301334T>GCA356175874WFS1c.1575T>G (p.Tyr525Ter)
c.1516T>G
c.1539T>G (p.Tyr513Ter)
c.1290T>G (p.Tyr430Ter)
c.1198T>G (p.Ser400Ala)
n.1724T>G
c.1548T>G (p.Tyr516Ter)
4g.6301335C>ACA356175877WFS1c.1576C>A (p.Leu526Ile)
c.1517C>A
c.1540C>A (p.Leu514Ile)
c.1291C>A (p.Leu431Ile)
c.1199C>A (p.Ser400Tyr)
n.1725C>A
c.1549C>A (p.Leu517Ile)
gnomAD v2
4g.6301335C=CA1435773270WFS1c.1576C= (p.Leu526=)
c.1517C=
c.1540C= (p.Leu514=)
c.1291C= (p.Leu431=)
c.1199C= (p.Ser400=)
n.1725C=
c.1549C= (p.Leu517=)
4g.6301335C>GCA356175878WFS1c.1576C>G (p.Leu526Val)
c.1517C>G
c.1540C>G (p.Leu514Val)
c.1291C>G (p.Leu431Val)
c.1199C>G (p.Ser400Cys)
n.1725C>G
c.1549C>G (p.Leu517Val)
dbSNP
4g.6301335C>TCA2839397WFS1c.1576C>T (p.Leu526Phe)
c.1517C>T
c.1540C>T (p.Leu514Phe)
c.1291C>T (p.Leu431Phe)
c.1199C>T (p.Ser400Phe)
n.1725C>T
c.1549C>T (p.Leu517Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301335_6301338delinsCTCTCA1435773268WFS1c.1576_1579delinsCTCT (p.Leu526=)
c.1517_1520delinsCTCT
c.1540_1543delinsCTCT (p.Leu514=)
c.1291_1294delinsCTCT (p.Leu431=)
c.1199_1202delinsCTCT (p.Ser400=)
n.1725_1728delinsCTCT
c.1549_1552delinsCTCT (p.Leu517=)
4g.6301336T>ACA356175881WFS1c.1577T>A (p.Leu526His)
c.1518T>A
c.1541T>A (p.Leu514His)
c.1292T>A (p.Leu431His)
c.1200T>A (p.Ser400=)
n.1726T>A
c.1550T>A (p.Leu517His)
4g.6301336T>CCA356175883WFS1c.1577T>C (p.Leu526Pro)
c.1518T>C
c.1541T>C (p.Leu514Pro)
c.1292T>C (p.Leu431Pro)
c.1200T>C (p.Ser400=)
n.1726T>C
c.1550T>C (p.Leu517Pro)
4g.6301336T>GCA356175884WFS1c.1577T>G (p.Leu526Arg)
c.1518T>G
c.1541T>G (p.Leu514Arg)
c.1292T>G (p.Leu431Arg)
c.1200T>G (p.Ser400=)
n.1726T>G
c.1550T>G (p.Leu517Arg)
4g.6301341_6301343delCA2839396WFS1c.1582_1584del (p.Phe528del)
c.1523_1525del
c.1546_1548del (p.Phe516del)
c.1297_1299del (p.Phe433del)
c.1205_1207del (p.Leu402del)
n.1731_1733del
c.1555_1557del (p.Phe519del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301337C>ACA438368506WFS1c.1578C>A (p.Leu526=)
c.1519C>A
c.1542C>A (p.Leu514=)
c.1293C>A (p.Leu431=)
c.1201C>A (p.Leu401Ile)
n.1727C>A
c.1551C>A (p.Leu517=)
4g.6301337C=CA1435773273WFS1c.1578C= (p.Leu526=)
c.1519C=
c.1542C= (p.Leu514=)
c.1293C= (p.Leu431=)
c.1201C= (p.Leu401=)
n.1727C=
c.1551C= (p.Leu517=)
4g.6301337C>GCA438368507WFS1c.1578C>G (p.Leu526=)
c.1519C>G
c.1542C>G (p.Leu514=)
c.1293C>G (p.Leu431=)
c.1201C>G (p.Leu401Val)
n.1727C>G
c.1551C>G (p.Leu517=)
COSMIC
4g.6301337C>TCA438368508WFS1c.1578C>T (p.Leu526=)
c.1519C>T
c.1542C>T (p.Leu514=)
c.1293C>T (p.Leu431=)
c.1201C>T (p.Leu401Phe)
n.1727C>T
c.1551C>T (p.Leu517=)
dbSNP gnomAD v4
4g.6301338T>ACA356175887WFS1c.1579T>A (p.Phe527Ile)
c.1520T>A
c.1543T>A (p.Phe515Ile)
c.1294T>A (p.Phe432Ile)
c.1202T>A (p.Leu401His)
n.1728T>A
c.1552T>A (p.Phe518Ile)
4g.6301338T>CCA356175888WFS1c.1579T>C (p.Phe527Leu)
c.1520T>C
c.1543T>C (p.Phe515Leu)
c.1294T>C (p.Phe432Leu)
c.1202T>C (p.Leu401Pro)
n.1728T>C
c.1552T>C (p.Phe518Leu)
dbSNP gnomAD v3 gnomAD v4
4g.6301338T>GCA356175890WFS1c.1579T>G (p.Phe527Val)
c.1520T>G
c.1543T>G (p.Phe515Val)
c.1294T>G (p.Phe432Val)
c.1202T>G (p.Leu401Arg)
n.1728T>G
c.1552T>G (p.Phe518Val)
gnomAD v4
4g.6301338T=CA1435773279WFS1c.1579T= (p.Phe527=)
c.1520T=
c.1543T= (p.Phe515=)
c.1294T= (p.Phe432=)
c.1202T= (p.Leu401=)
n.1728T=
c.1552T= (p.Phe518=)
4g.6301339T>ACA356175894WFS1c.1580T>A (p.Phe527Tyr)
c.1521T>A
c.1544T>A (p.Phe515Tyr)
c.1295T>A (p.Phe432Tyr)
c.1203T>A (p.Leu401=)
n.1729T>A
c.1553T>A (p.Phe518Tyr)
4g.6301339T>CCA356175896WFS1c.1580T>C (p.Phe527Ser)
c.1521T>C
c.1544T>C (p.Phe515Ser)
c.1295T>C (p.Phe432Ser)
c.1203T>C (p.Leu401=)
n.1729T>C
c.1553T>C (p.Phe518Ser)
ClinVar gnomAD v4
4g.6301339T>GCA356175892WFS1c.1580T>G (p.Phe527Cys)
c.1521T>G
c.1544T>G (p.Phe515Cys)
c.1295T>G (p.Phe432Cys)
c.1203T>G (p.Leu401=)
n.1729T>G
c.1553T>G (p.Phe518Cys)
dbSNP
4g.6301339T=CA1435773281WFS1c.1580T= (p.Phe527=)
c.1521T=
c.1544T= (p.Phe515=)
c.1295T= (p.Phe432=)
c.1203T= (p.Leu401=)
n.1729T=
c.1553T= (p.Phe518=)
4g.6301339_6301340insACA2580071773WFS1c.1580_1581insA (p.Phe527LeufsTer28)
c.1521_1522insA
c.1544_1545insA (p.Phe515LeufsTer28)
c.1295_1296insA (p.Phe432LeufsTer28)
c.1203_1204insA (p.Leu402ThrfsTer7)
n.1729_1730insA
c.1553_1554insA (p.Phe518LeufsTer28)
ClinVar
4g.6301340C>ACA356175898WFS1c.1581C>A (p.Phe527Leu)
c.1522C>A
c.1545C>A (p.Phe515Leu)
c.1296C>A (p.Phe432Leu)
c.1204C>A (p.Leu402Ile)
n.1730C>A
c.1554C>A (p.Phe518Leu)
4g.6301340C=CA1435773283WFS1c.1581C= (p.Phe527=)
c.1522C=
c.1545C= (p.Phe515=)
c.1296C= (p.Phe432=)
c.1204C= (p.Leu402=)
n.1730C=
c.1554C= (p.Phe518=)
4g.6301340C>GCA356175899WFS1c.1581C>G (p.Phe527Leu)
c.1522C>G
c.1545C>G (p.Phe515Leu)
c.1296C>G (p.Phe432Leu)
c.1204C>G (p.Leu402Val)
n.1730C>G
c.1554C>G (p.Phe518Leu)
4g.6301340C>TCA438368514WFS1c.1581C>T (p.Phe527=)
c.1522C>T
c.1545C>T (p.Phe515=)
c.1296C>T (p.Phe432=)
c.1204C>T (p.Leu402Phe)
n.1730C>T
c.1554C>T (p.Phe518=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301341T>ACA356175901WFS1c.1582T>A (p.Phe528Ile)
c.1523T>A
c.1546T>A (p.Phe516Ile)
c.1297T>A (p.Phe433Ile)
c.1205T>A (p.Leu402His)
n.1731T>A
c.1555T>A (p.Phe519Ile)
4g.6301341T>CCA356175902WFS1c.1582T>C (p.Phe528Leu)
c.1523T>C
c.1546T>C (p.Phe516Leu)
c.1297T>C (p.Phe433Leu)
c.1205T>C (p.Leu402Pro)
n.1731T>C
c.1555T>C (p.Phe519Leu)
ClinVar dbSNP gnomAD v4
4g.6301341T>GCA356175904WFS1c.1582T>G (p.Phe528Val)
c.1523T>G
c.1546T>G (p.Phe516Val)
c.1297T>G (p.Phe433Val)
c.1205T>G (p.Leu402Arg)
n.1731T>G
c.1555T>G (p.Phe519Val)
4g.6301341T=CA1435773286WFS1c.1582T= (p.Phe528=)
c.1523T=
c.1546T= (p.Phe516=)
c.1297T= (p.Phe433=)
c.1205T= (p.Leu402=)
n.1731T=
c.1555T= (p.Phe519=)
4g.6301342T>ACA356175906WFS1c.1583T>A (p.Phe528Tyr)
c.1524T>A
c.1547T>A (p.Phe516Tyr)
c.1298T>A (p.Phe433Tyr)
c.1206T>A (p.Leu402=)
n.1732T>A
c.1556T>A (p.Phe519Tyr)
4g.6301342T>CCA356175908WFS1c.1583T>C (p.Phe528Ser)
c.1524T>C
c.1547T>C (p.Phe516Ser)
c.1298T>C (p.Phe433Ser)
c.1206T>C (p.Leu402=)
n.1732T>C
c.1556T>C (p.Phe519Ser)
4g.6301342T>GCA356175909WFS1c.1583T>G (p.Phe528Cys)
c.1524T>G
c.1547T>G (p.Phe516Cys)
c.1298T>G (p.Phe433Cys)
c.1206T>G (p.Leu402=)
n.1732T>G
c.1556T>G (p.Phe519Cys)
4g.6301343C>ACA356175911WFS1c.1584C>A (p.Phe528Leu)
c.1525C>A
c.1548C>A (p.Phe516Leu)
c.1299C>A (p.Phe433Leu)
c.1207C>A (p.Pro403Thr)
n.1733C>A
c.1557C>A (p.Phe519Leu)
4g.6301343C=CA1435773289WFS1c.1584C= (p.Phe528=)
c.1525C=
c.1548C= (p.Phe516=)
c.1299C= (p.Phe433=)
c.1207C= (p.Pro403=)
n.1733C=
c.1557C= (p.Phe519=)
4g.6301343C>GCA356175913WFS1c.1584C>G (p.Phe528Leu)
c.1525C>G
c.1548C>G (p.Phe516Leu)
c.1299C>G (p.Phe433Leu)
c.1207C>G (p.Pro403Ala)
n.1733C>G
c.1557C>G (p.Phe519Leu)
4g.6301343C>TCA438368524WFS1c.1584C>T (p.Phe528=)
c.1525C>T
c.1548C>T (p.Phe516=)
c.1299C>T (p.Phe433=)
c.1207C>T (p.Pro403Ser)
n.1733C>T
c.1557C>T (p.Phe519=)
dbSNP gnomAD v2 gnomAD v4
4g.6301344delCA2499217324WFS1c.1585del (p.Arg529AlafsTer5)
c.1526del
c.1549del (p.Arg517AlafsTer5)
c.1300del (p.Arg434AlafsTer5)
c.1208del (p.Pro403ArgfsTer?)
n.1734del
c.1558del (p.Arg520AlafsTer5)
ClinVar dbSNP gnomAD v4
4g.6301344C>ACA356175915WFS1c.1585C>A (p.Arg529Ser)
c.1526C>A
c.1549C>A (p.Arg517Ser)
c.1300C>A (p.Arg434Ser)
c.1208C>A (p.Pro403Gln)
n.1734C>A
c.1558C>A (p.Arg520Ser)
4g.6301344C=CA1435773293WFS1c.1585C= (p.Arg529=)
c.1526C=
c.1549C= (p.Arg517=)
c.1300C= (p.Arg434=)
c.1208C= (p.Pro403=)
n.1734C=
c.1558C= (p.Arg520=)
4g.6301344C>GCA356175916WFS1c.1585C>G (p.Arg529Gly)
c.1526C>G
c.1549C>G (p.Arg517Gly)
c.1300C>G (p.Arg434Gly)
c.1208C>G (p.Pro403Arg)
n.1734C>G
c.1558C>G (p.Arg520Gly)
gnomAD v4
4g.6301344C>TCA2839398WFS1c.1585C>T (p.Arg529Cys)
c.1526C>T
c.1549C>T (p.Arg517Cys)
c.1300C>T (p.Arg434Cys)
c.1208C>T (p.Pro403Leu)
n.1734C>T
c.1558C>T (p.Arg520Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301345G>ACA2839399WFS1c.1586G>A (p.Arg529His)
c.1527G>A
c.1550G>A (p.Arg517His)
c.1301G>A (p.Arg434His)
c.1209G>A (p.Pro403=)
n.1735G>A
c.1559G>A (p.Arg520His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301345G>CCA2839400WFS1c.1586G>C (p.Arg529Pro)
c.1527G>C
c.1550G>C (p.Arg517Pro)
c.1301G>C (p.Arg434Pro)
c.1209G>C (p.Pro403=)
n.1735G>C
c.1559G>C (p.Arg520Pro)
dbSNP ExAC gnomAD v2
4g.6301345G=CA1435773296WFS1c.1586G= (p.Arg529=)
c.1527G=
c.1550G= (p.Arg517=)
c.1301G= (p.Arg434=)
c.1209G= (p.Pro403=)
n.1735G=
c.1559G= (p.Arg520=)
4g.6301345G>TCA356175919WFS1c.1586G>T (p.Arg529Leu)
c.1527G>T
c.1550G>T (p.Arg517Leu)
c.1301G>T (p.Arg434Leu)
c.1209G>T (p.Pro403=)
n.1735G>T
c.1559G>T (p.Arg520Leu)
dbSNP gnomAD v4
4g.6301346C>ACA438368537WFS1c.1587C>A (p.Arg529=)
c.1528C>A
c.1551C>A (p.Arg517=)
c.1302C>A (p.Arg434=)
c.1210C>A (p.His404Asn)
n.1736C>A
c.1560C>A (p.Arg520=)
dbSNP
4g.6301346C=CA1435773299WFS1c.1587C= (p.Arg529=)
c.1528C=
c.1551C= (p.Arg517=)
c.1302C= (p.Arg434=)
c.1210C= (p.His404=)
n.1736C=
c.1560C= (p.Arg520=)
4g.6301346C>GCA438368532WFS1c.1587C>G (p.Arg529=)
c.1528C>G
c.1551C>G (p.Arg517=)
c.1302C>G (p.Arg434=)
c.1210C>G (p.His404Asp)
n.1736C>G
c.1560C>G (p.Arg520=)
4g.6301346C>TCA438368533WFS1c.1587C>T (p.Arg529=)
c.1528C>T
c.1551C>T (p.Arg517=)
c.1302C>T (p.Arg434=)
c.1210C>T (p.His404Tyr)
n.1736C>T
c.1560C>T (p.Arg520=)
dbSNP gnomAD v3 gnomAD v4
4g.6301347A=CA1435773302WFS1c.1588A= (p.Met530=)
c.1529A=
c.1552A= (p.Met518=)
c.1303A= (p.Met435=)
c.1211A= (p.His404=)
n.1737A=
c.1561A= (p.Met521=)
4g.6301347A>CCA356175922WFS1c.1588A>C (p.Met530Leu)
c.1529A>C
c.1552A>C (p.Met518Leu)
c.1303A>C (p.Met435Leu)
c.1211A>C (p.His404Pro)
n.1737A>C
c.1561A>C (p.Met521Leu)
4g.6301347A>GCA2839401WFS1c.1588A>G (p.Met530Val)
c.1529A>G
c.1552A>G (p.Met518Val)
c.1303A>G (p.Met435Val)
c.1211A>G (p.His404Arg)
n.1737A>G
c.1561A>G (p.Met521Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301347A>TCA356175924WFS1c.1588A>T (p.Met530Leu)
c.1529A>T
c.1552A>T (p.Met518Leu)
c.1303A>T (p.Met435Leu)
c.1211A>T (p.His404Leu)
n.1737A>T
c.1561A>T (p.Met521Leu)
4g.6301348T>ACA2839402WFS1c.1589T>A (p.Met530Lys)
c.1530T>A
c.1553T>A (p.Met518Lys)
c.1304T>A (p.Met435Lys)
c.1212T>A (p.His404Gln)
n.1738T>A
c.1562T>A (p.Met521Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301348T>CCA356175926WFS1c.1589T>C (p.Met530Thr)
c.1530T>C
c.1553T>C (p.Met518Thr)
c.1304T>C (p.Met435Thr)
c.1212T>C (p.His404=)
n.1738T>C
c.1562T>C (p.Met521Thr)
4g.6301348T>GCA356175928WFS1c.1589T>G (p.Met530Arg)
c.1530T>G
c.1553T>G (p.Met518Arg)
c.1304T>G (p.Met435Arg)
c.1212T>G (p.His404Gln)
n.1738T>G
c.1562T>G (p.Met521Arg)
4g.6301348T=CA1435773309WFS1c.1589T= (p.Met530=)
c.1530T=
c.1553T= (p.Met518=)
c.1304T= (p.Met435=)
c.1212T= (p.His404=)
n.1738T=
c.1562T= (p.Met521=)
4g.6301349G>ACA324553WFS1c.1590G>A (p.Met530Ile)
c.1531G>A
c.1554G>A (p.Met518Ile)
c.1305G>A (p.Met435Ile)
c.1213G>A (p.Gly405Ser)
n.1739G>A
c.1563G>A (p.Met521Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301349G>CCA91796350WFS1c.1590G>C (p.Met530Ile)
c.1531G>C
c.1554G>C (p.Met518Ile)
c.1305G>C (p.Met435Ile)
c.1213G>C (p.Gly405Arg)
n.1739G>C
c.1563G>C (p.Met521Ile)
dbSNP gnomAD v4
4g.6301349G=CA1435773313WFS1c.1590G= (p.Met530=)
c.1531G=
c.1554G= (p.Met518=)
c.1305G= (p.Met435=)
c.1213G= (p.Gly405=)
n.1739G=
c.1563G= (p.Met521=)
4g.6301349G>TCA356175931WFS1c.1590G>T (p.Met530Ile)
c.1531G>T
c.1554G>T (p.Met518Ile)
c.1305G>T (p.Met435Ile)
c.1213G>T (p.Gly405Cys)
n.1739G>T
c.1563G>T (p.Met521Ile)
4g.6301350G>ACA91796353WFS1c.1591G>A (p.Ala531Thr)
c.1532G>A
c.1555G>A (p.Ala519Thr)
c.1306G>A (p.Ala436Thr)
c.1214G>A (p.Gly405Asp)
n.1740G>A
c.1564G>A (p.Ala522Thr)
dbSNP gnomAD v4
4g.6301350G>CCA356175936WFS1c.1591G>C (p.Ala531Pro)
c.1532G>C
c.1555G>C (p.Ala519Pro)
c.1306G>C (p.Ala436Pro)
c.1214G>C (p.Gly405Ala)
n.1740G>C
c.1564G>C (p.Ala522Pro)
4g.6301350G=CA1435773319WFS1c.1591G= (p.Ala531=)
c.1532G=
c.1555G= (p.Ala519=)
c.1306G= (p.Ala436=)
c.1214G= (p.Gly405=)
n.1740G=
c.1564G= (p.Ala522=)
4g.6301350G>TCA356175939WFS1c.1591G>T (p.Ala531Ser)
c.1532G>T
c.1555G>T (p.Ala519Ser)
c.1306G>T (p.Ala436Ser)
c.1214G>T (p.Gly405Val)
n.1740G>T
c.1564G>T (p.Ala522Ser)
4g.6301351C>ACA356175945WFS1c.1592C>A (p.Ala531Glu)
c.1533C>A
c.1556C>A (p.Ala519Glu)
c.1307C>A (p.Ala436Glu)
c.1215C>A (p.Gly405=)
n.1741C>A
c.1565C>A (p.Ala522Glu)
4g.6301351C=CA1435773322WFS1c.1592C= (p.Ala531=)
c.1533C=
c.1556C= (p.Ala519=)
c.1307C= (p.Ala436=)
c.1215C= (p.Gly405=)
n.1741C=
c.1565C= (p.Ala522=)
4g.6301351C>GCA356175943WFS1c.1592C>G (p.Ala531Gly)
c.1533C>G
c.1556C>G (p.Ala519Gly)
c.1307C>G (p.Ala436Gly)
c.1215C>G (p.Gly405=)
n.1741C>G
c.1565C>G (p.Ala522Gly)
4g.6301351C>TCA295574WFS1c.1592C>T (p.Ala531Val)
c.1533C>T
c.1556C>T (p.Ala519Val)
c.1307C>T (p.Ala436Val)
c.1215C>T (p.Gly405=)
n.1741C>T
c.1565C>T (p.Ala522Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301352A>CCA438368550WFS1c.1593A>C (p.Ala531=)
c.1534A>C
c.1557A>C (p.Ala519=)
c.1308A>C (p.Ala436=)
c.1216A>C (p.Thr406Pro)
n.1742A>C
c.1566A>C (p.Ala522=)
4g.6301352A>GCA438368551WFS1c.1593A>G (p.Ala531=)
c.1534A>G
c.1557A>G (p.Ala519=)
c.1308A>G (p.Ala436=)
c.1216A>G (p.Thr406Ala)
n.1742A>G
c.1566A>G (p.Ala522=)
ClinVar dbSNP
4g.6301352A>TCA438368552WFS1c.1593A>T (p.Ala531=)
c.1534A>T
c.1557A>T (p.Ala519=)
c.1308A>T (p.Ala436=)
c.1216A>T (p.Thr406Ser)
n.1742A>T
c.1566A>T (p.Ala522=)
4g.6301353C>ACA356175947WFS1c.1594C>A (p.Gln532Lys)
c.1535C>A
c.1558C>A (p.Gln520Lys)
c.1309C>A (p.Gln437Lys)
c.1217C>A (p.Thr406Lys)
n.1743C>A
c.1567C>A (p.Gln523Lys)
4g.6301353C=CA1435773327WFS1c.1594C= (p.Gln532=)
c.1535C=
c.1558C= (p.Gln520=)
c.1309C= (p.Gln437=)
c.1217C= (p.Thr406=)
n.1743C=
c.1567C= (p.Gln523=)
4g.6301353C>GCA2839403WFS1c.1594C>G (p.Gln532Glu)
c.1535C>G
c.1558C>G (p.Gln520Glu)
c.1309C>G (p.Gln437Glu)
c.1217C>G (p.Thr406Arg)
n.1743C>G
c.1567C>G (p.Gln523Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301353C>TCA356175948WFS1c.1594C>T (p.Gln532Ter)
c.1535C>T
c.1558C>T (p.Gln520Ter)
c.1309C>T (p.Gln437Ter)
c.1217C>T (p.Thr406Ile)
n.1743C>T
c.1567C>T (p.Gln523Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301354A>CCA356175953WFS1c.1595A>C (p.Gln532Pro)
c.1536A>C
c.1559A>C (p.Gln520Pro)
c.1310A>C (p.Gln437Pro)
c.1218A>C (p.Thr406=)
n.1744A>C
c.1568A>C (p.Gln523Pro)
COSMIC
4g.6301354A>GCA356175955WFS1c.1595A>G (p.Gln532Arg)
c.1536A>G
c.1559A>G (p.Gln520Arg)
c.1310A>G (p.Gln437Arg)
c.1218A>G (p.Thr406=)
n.1744A>G
c.1568A>G (p.Gln523Arg)
4g.6301354A>TCA356175954WFS1c.1595A>T (p.Gln532Leu)
c.1536A>T
c.1559A>T (p.Gln520Leu)
c.1310A>T (p.Gln437Leu)
c.1218A>T (p.Thr406=)
n.1744A>T
c.1568A>T (p.Gln523Leu)
4g.6301355G>ACA2839404WFS1c.1596G>A (p.Gln532=)
c.1537G>A
c.1560G>A (p.Gln520=)
c.1311G>A (p.Gln437=)
c.1219G>A (p.Ala407Thr)
n.1745G>A
c.1569G>A (p.Gln523=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301355G>CCA356175962WFS1c.1596G>C (p.Gln532His)
c.1537G>C
c.1560G>C (p.Gln520His)
c.1311G>C (p.Gln437His)
c.1219G>C (p.Ala407Pro)
n.1745G>C
c.1569G>C (p.Gln523His)
dbSNP gnomAD v2 gnomAD v4
4g.6301355G=CA1435773334WFS1c.1596G= (p.Gln532=)
c.1537G=
c.1560G= (p.Gln520=)
c.1311G= (p.Gln437=)
c.1219G= (p.Ala407=)
n.1745G=
c.1569G= (p.Gln523=)
4g.6301355G>TCA356175959WFS1c.1596G>T (p.Gln532His)
c.1537G>T
c.1560G>T (p.Gln520His)
c.1311G>T (p.Gln437His)
c.1219G>T (p.Ala407Ser)
n.1745G>T
c.1569G>T (p.Gln523His)
4g.6301356C>ACA356175965WFS1c.1597C>A (p.Leu533Met)
c.1538C>A
c.1561C>A (p.Leu521Met)
c.1312C>A (p.Leu438Met)
c.1220C>A (p.Ala407Asp)
n.1746C>A
c.1570C>A (p.Leu524Met)
4g.6301356C=CA1435773341WFS1c.1597C= (p.Leu533=)
c.1538C=
c.1561C= (p.Leu521=)
c.1312C= (p.Leu438=)
c.1220C= (p.Ala407=)
n.1746C=
c.1570C= (p.Leu524=)
4g.6301356C>GCA2839405WFS1c.1597C>G (p.Leu533Val)
c.1538C>G
c.1561C>G (p.Leu521Val)
c.1312C>G (p.Leu438Val)
c.1220C>G (p.Ala407Gly)
n.1746C>G
c.1570C>G (p.Leu524Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301356C>TCA438368566WFS1c.1597C>T (p.Leu533=)
c.1538C>T
c.1561C>T (p.Leu521=)
c.1312C>T (p.Leu438=)
c.1220C>T (p.Ala407Val)
n.1746C>T
c.1570C>T (p.Leu524=)
4g.6301357T>ACA356175969WFS1c.1598T>A (p.Leu533Gln)
c.1539T>A
c.1562T>A (p.Leu521Gln)
c.1313T>A (p.Leu438Gln)
c.1221T>A (p.Ala407=)
n.1747T>A
c.1571T>A (p.Leu524Gln)
4g.6301357T>CCA356175973WFS1c.1598T>C (p.Leu533Pro)
c.1539T>C
c.1562T>C (p.Leu521Pro)
c.1313T>C (p.Leu438Pro)
c.1221T>C (p.Ala407=)
n.1747T>C
c.1571T>C (p.Leu524Pro)
4g.6301357T>GCA356175975WFS1c.1598T>G (p.Leu533Arg)
c.1539T>G
c.1562T>G (p.Leu521Arg)
c.1313T>G (p.Leu438Arg)
c.1221T>G (p.Ala407=)
n.1747T>G
c.1571T>G (p.Leu524Arg)
ClinVar gnomAD v4
4g.6301358G>ACA438368573WFS1c.1599G>A (p.Leu533=)
c.1540G>A
c.1563G>A (p.Leu521=)
c.1314G>A (p.Leu438=)
c.1222G>A (p.Glu408Lys)
n.1748G>A
c.1572G>A (p.Leu524=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301358G>CCA438368575WFS1c.1599G>C (p.Leu533=)
c.1540G>C
c.1563G>C (p.Leu521=)
c.1314G>C (p.Leu438=)
c.1222G>C (p.Glu408Gln)
n.1748G>C
c.1572G>C (p.Leu524=)
4g.6301358G=CA1435773343WFS1c.1599G= (p.Leu533=)
c.1540G=
c.1563G= (p.Leu521=)
c.1314G= (p.Leu438=)
c.1222G= (p.Glu408=)
n.1748G=
c.1572G= (p.Leu524=)
4g.6301358G>TCA438368577WFS1c.1599G>T (p.Leu533=)
c.1540G>T
c.1563G>T (p.Leu521=)
c.1314G>T (p.Leu438=)
c.1222G>T (p.Glu408Ter)
n.1748G>T
c.1572G>T (p.Leu524=)
4g.6301359A>CCA438368578WFS1c.1600A>C (p.Arg534=)
c.1541A>C
c.1564A>C (p.Arg522=)
c.1315A>C (p.Arg439=)
c.1223A>C (p.Glu408Ala)
n.1749A>C
c.1573A>C (p.Arg525=)
4g.6301359A>GCA356175979WFS1c.1600A>G (p.Arg534Gly)
c.1541A>G
c.1564A>G (p.Arg522Gly)
c.1315A>G (p.Arg439Gly)
c.1223A>G (p.Glu408Gly)
n.1749A>G
c.1573A>G (p.Arg525Gly)
4g.6301359A>TCA356175981WFS1c.1600A>T (p.Arg534Trp)
c.1541A>T
c.1564A>T (p.Arg522Trp)
c.1315A>T (p.Arg439Trp)
c.1223A>T (p.Glu408Val)
n.1749A>T
c.1573A>T (p.Arg525Trp)
4g.6301360G>ACA356175983WFS1c.1601G>A (p.Arg534Lys)
c.1542G>A
c.1565G>A (p.Arg522Lys)
c.1316G>A (p.Arg439Lys)
c.1224G>A (p.Glu408=)
n.1750G>A
c.1574G>A (p.Arg525Lys)
gnomAD v4
4g.6301360G>CCA356175987WFS1c.1601G>C (p.Arg534Thr)
c.1542G>C
c.1565G>C (p.Arg522Thr)
c.1316G>C (p.Arg439Thr)
c.1224G>C (p.Glu408Asp)
n.1750G>C
c.1574G>C (p.Arg525Thr)
dbSNP
4g.6301360G>TCA356175989WFS1c.1601G>T (p.Arg534Met)
c.1542G>T
c.1565G>T (p.Arg522Met)
c.1316G>T (p.Arg439Met)
c.1224G>T (p.Glu408Asp)
n.1750G>T
c.1574G>T (p.Arg525Met)
ClinVar
4g.6301361G>ACA438368583WFS1c.1602G>A (p.Arg534=)
c.1543G>A
c.1566G>A (p.Arg522=)
c.1317G>A (p.Arg439=)
c.1225G>A (p.Glu409Lys)
n.1751G>A
c.1575G>A (p.Arg525=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301361G>CCA356175992WFS1c.1602G>C (p.Arg534Ser)
c.1543G>C
c.1566G>C (p.Arg522Ser)
c.1317G>C (p.Arg439Ser)
c.1225G>C (p.Glu409Gln)
n.1751G>C
c.1575G>C (p.Arg525Ser)
4g.6301361G=CA1435773345WFS1c.1602G= (p.Arg534=)
c.1543G=
c.1566G= (p.Arg522=)
c.1317G= (p.Arg439=)
c.1225G= (p.Glu409=)
n.1751G=
c.1575G= (p.Arg525=)
4g.6301361G>TCA356175993WFS1c.1602G>T (p.Arg534Ser)
c.1543G>T
c.1566G>T (p.Arg522Ser)
c.1317G>T (p.Arg439Ser)
c.1225G>T (p.Glu409Ter)
n.1751G>T
c.1575G>T (p.Arg525Ser)
dbSNP gnomAD v2 gnomAD v4
4g.6301362A=CA1435773347WFS1c.1603A= (p.Asn535=)
c.1544A=
c.1567A= (p.Asn523=)
c.1318A= (p.Asn440=)
c.1226A= (p.Glu409=)
n.1752A=
c.1576A= (p.Asn526=)
4g.6301362A>CCA356175999WFS1c.1603A>C (p.Asn535His)
c.1544A>C
c.1567A>C (p.Asn523His)
c.1318A>C (p.Asn440His)
c.1226A>C (p.Glu409Ala)
n.1752A>C
c.1576A>C (p.Asn526His)
4g.6301362A>GCA356175996WFS1c.1603A>G (p.Asn535Asp)
c.1544A>G
c.1567A>G (p.Asn523Asp)
c.1318A>G (p.Asn440Asp)
c.1226A>G (p.Glu409Gly)
n.1752A>G
c.1576A>G (p.Asn526Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301362A>TCA356175998WFS1c.1603A>T (p.Asn535Tyr)
c.1544A>T
c.1567A>T (p.Asn523Tyr)
c.1318A>T (p.Asn440Tyr)
c.1226A>T (p.Glu409Val)
n.1752A>T
c.1576A>T (p.Asn526Tyr)
4g.6301363A>CCA356176000WFS1c.1604A>C (p.Asn535Thr)
c.1545A>C
c.1568A>C (p.Asn523Thr)
c.1319A>C (p.Asn440Thr)
c.1227A>C (p.Glu409Asp)
n.1753A>C
c.1577A>C (p.Asn526Thr)
4g.6301363A>GCA356176002WFS1c.1604A>G (p.Asn535Ser)
c.1545A>G
c.1568A>G (p.Asn523Ser)
c.1319A>G (p.Asn440Ser)
c.1227A>G (p.Glu409=)
n.1753A>G
c.1577A>G (p.Asn526Ser)
gnomAD v4
4g.6301363A>TCA356176005WFS1c.1604A>T (p.Asn535Ile)
c.1545A>T
c.1568A>T (p.Asn523Ile)
c.1319A>T (p.Asn440Ile)
c.1227A>T (p.Glu409Asp)
n.1753A>T
c.1577A>T (p.Asn526Ile)
4g.6301364T>ACA356176007WFS1c.1605T>A (p.Asn535Lys)
c.1546T>A
c.1569T>A (p.Asn523Lys)
c.1320T>A (p.Asn440Lys)
c.1228T>A (p.Phe410Ile)
n.1754T>A
c.1578T>A (p.Asn526Lys)
COSMIC
4g.6301364T>CCA438368588WFS1c.1605T>C (p.Asn535=)
c.1546T>C
c.1569T>C (p.Asn523=)
c.1320T>C (p.Asn440=)
c.1228T>C (p.Phe410Leu)
n.1754T>C
c.1578T>C (p.Asn526=)
4g.6301364T>GCA356176009WFS1c.1605T>G (p.Asn535Lys)
c.1546T>G
c.1569T>G (p.Asn523Lys)
c.1320T>G (p.Asn440Lys)
c.1228T>G (p.Phe410Val)
n.1754T>G
c.1578T>G (p.Asn526Lys)
dbSNP
4g.6301364T=CA1435773350WFS1c.1605T= (p.Asn535=)
c.1546T=
c.1569T= (p.Asn523=)
c.1320T= (p.Asn440=)
c.1228T= (p.Phe410=)
n.1754T=
c.1578T= (p.Asn526=)
4g.6301365T>ACA356176019WFS1c.1606T>A (p.Phe536Ile)
c.1547T>A
c.1570T>A (p.Phe524Ile)
c.1321T>A (p.Phe441Ile)
c.1229T>A (p.Phe410Tyr)
n.1755T>A
c.1579T>A (p.Phe527Ile)
4g.6301365T>CCA356176020WFS1c.1606T>C (p.Phe536Leu)
c.1547T>C
c.1570T>C (p.Phe524Leu)
c.1321T>C (p.Phe441Leu)
c.1229T>C (p.Phe410Ser)
n.1755T>C
c.1579T>C (p.Phe527Leu)
4g.6301365T>GCA356176022WFS1c.1606T>G (p.Phe536Val)
c.1547T>G
c.1570T>G (p.Phe524Val)
c.1321T>G (p.Phe441Val)
c.1229T>G (p.Phe410Cys)
n.1755T>G
c.1579T>G (p.Phe527Val)
4g.6301366T>ACA356176023WFS1c.1607T>A (p.Phe536Tyr)
c.1548T>A
c.1571T>A (p.Phe524Tyr)
c.1322T>A (p.Phe441Tyr)
c.1230T>A (p.Phe410Leu)
n.1756T>A
c.1580T>A (p.Phe527Tyr)
4g.6301366T>CCA356176025WFS1c.1607T>C (p.Phe536Ser)
c.1548T>C
c.1571T>C (p.Phe524Ser)
c.1322T>C (p.Phe441Ser)
c.1230T>C (p.Phe410=)
n.1756T>C
c.1580T>C (p.Phe527Ser)
4g.6301366T>GCA356176026WFS1c.1607T>G (p.Phe536Cys)
c.1548T>G
c.1571T>G (p.Phe524Cys)
c.1322T>G (p.Phe441Cys)
c.1230T>G (p.Phe410Leu)
n.1756T>G
c.1580T>G (p.Phe527Cys)
gnomAD v4
4g.6301367C>ACA356176028WFS1c.1608C>A (p.Phe536Leu)
c.1549C>A
c.1572C>A (p.Phe524Leu)
c.1323C>A (p.Phe441Leu)
c.1231C>A (p.Gln411Lys)
n.1757C>A
c.1581C>A (p.Phe527Leu)
4g.6301367C=CA1435773353WFS1c.1608C= (p.Phe536=)
c.1549C=
c.1572C= (p.Phe524=)
c.1323C= (p.Phe441=)
c.1231C= (p.Gln411=)
n.1757C=
c.1581C= (p.Phe527=)
4g.6301367C>GCA356176030WFS1c.1608C>G (p.Phe536Leu)
c.1549C>G
c.1572C>G (p.Phe524Leu)
c.1323C>G (p.Phe441Leu)
c.1231C>G (p.Gln411Glu)
n.1757C>G
c.1581C>G (p.Phe527Leu)
ClinVar dbSNP gnomAD v4
4g.6301367C>TCA438368589WFS1c.1608C>T (p.Phe536=)
c.1549C>T
c.1572C>T (p.Phe524=)
c.1323C>T (p.Phe441=)
c.1231C>T (p.Gln411Ter)
n.1757C>T
c.1581C>T (p.Phe527=)
COSMIC
4g.6301368A>CCA356176032WFS1c.1609A>C (p.Lys537Gln)
c.1550A>C
c.1573A>C (p.Lys525Gln)
c.1324A>C (p.Lys442Gln)
c.1232A>C (p.Gln411Pro)
n.1758A>C
c.1582A>C (p.Lys528Gln)
4g.6301368A>GCA356176034WFS1c.1609A>G (p.Lys537Glu)
c.1550A>G
c.1573A>G (p.Lys525Glu)
c.1324A>G (p.Lys442Glu)
c.1232A>G (p.Gln411Arg)
n.1758A>G
c.1582A>G (p.Lys528Glu)
4g.6301368A>TCA356176037WFS1c.1609A>T (p.Lys537Ter)
c.1550A>T
c.1573A>T (p.Lys525Ter)
c.1324A>T (p.Lys442Ter)
c.1232A>T (p.Gln411Leu)
n.1758A>T
c.1582A>T (p.Lys528Ter)
4g.6301369A>CCA356176040WFS1c.1610A>C (p.Lys537Thr)
c.1551A>C
c.1574A>C (p.Lys525Thr)
c.1325A>C (p.Lys442Thr)
c.1233A>C (p.Gln411His)
n.1759A>C
c.1583A>C (p.Lys528Thr)
4g.6301369A>GCA356176041WFS1c.1610A>G (p.Lys537Arg)
c.1551A>G
c.1574A>G (p.Lys525Arg)
c.1325A>G (p.Lys442Arg)
c.1233A>G (p.Gln411=)
n.1759A>G
c.1583A>G (p.Lys528Arg)
ClinVar
4g.6301369A>TCA356176043WFS1c.1610A>T (p.Lys537Met)
c.1551A>T
c.1574A>T (p.Lys525Met)
c.1325A>T (p.Lys442Met)
c.1233A>T (p.Gln411His)
n.1759A>T
c.1583A>T (p.Lys528Met)
4g.6301370G>ACA438368593WFS1c.1611G>A (p.Lys537=)
c.1552G>A
c.1575G>A (p.Lys525=)
c.1326G>A (p.Lys442=)
c.1234G>A (p.Gly412Arg)
n.1760G>A
c.1584G>A (p.Lys528=)
4g.6301370G>CCA356176045WFS1c.1611G>C (p.Lys537Asn)
c.1552G>C
c.1575G>C (p.Lys525Asn)
c.1326G>C (p.Lys442Asn)
c.1234G>C (p.Gly412Arg)
n.1760G>C
c.1584G>C (p.Lys528Asn)
4g.6301370G>TCA356176046WFS1c.1611G>T (p.Lys537Asn)
c.1552G>T
c.1575G>T (p.Lys525Asn)
c.1326G>T (p.Lys442Asn)
c.1234G>T (p.Gly412Trp)
n.1760G>T
c.1584G>T (p.Lys528Asn)
4g.6301371G>ACA356176047WFS1c.1612G>A (p.Gly538Ser)
c.1553G>A
c.1576G>A (p.Gly526Ser)
c.1327G>A (p.Gly443Ser)
c.1235G>A (p.Gly412Glu)
n.1761G>A
c.1585G>A (p.Gly529Ser)
gnomAD v4
4g.6301371G>CCA356176048WFS1c.1612G>C (p.Gly538Arg)
c.1553G>C
c.1576G>C (p.Gly526Arg)
c.1327G>C (p.Gly443Arg)
c.1235G>C (p.Gly412Ala)
n.1761G>C
c.1585G>C (p.Gly529Arg)
4g.6301371G>TCA356176049WFS1c.1612G>T (p.Gly538Cys)
c.1553G>T
c.1576G>T (p.Gly526Cys)
c.1327G>T (p.Gly443Cys)
c.1235G>T (p.Gly412Val)
n.1761G>T
c.1585G>T (p.Gly529Cys)
4g.6301371_6301372delinsTTCA645523668WFS1c.1612_1613delinsTT (p.Gly538Phe)
c.1553_1554delinsTT
c.1576_1577delinsTT (p.Gly526Phe)
c.1327_1328delinsTT (p.Gly443Phe)
c.1235_1236delinsTT (p.Gly412Val)
n.1761_1762delinsTT
c.1585_1586delinsTT (p.Gly529Phe)
COSMIC
4g.6301372G>ACA2839406WFS1c.1613G>A (p.Gly538Asp)
c.1554G>A
c.1577G>A (p.Gly526Asp)
c.1328G>A (p.Gly443Asp)
c.1236G>A (p.Gly412=)
n.1762G>A
c.1586G>A (p.Gly529Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301372G>CCA356176051WFS1c.1613G>C (p.Gly538Ala)
c.1554G>C
c.1577G>C (p.Gly526Ala)
c.1328G>C (p.Gly443Ala)
c.1236G>C (p.Gly412=)
n.1762G>C
c.1586G>C (p.Gly529Ala)
4g.6301372G=CA1435773385WFS1c.1613G= (p.Gly538=)
c.1554G=
c.1577G= (p.Gly526=)
c.1328G= (p.Gly443=)
c.1236G= (p.Gly412=)
n.1762G=
c.1586G= (p.Gly529=)
4g.6301372G>TCA356176050WFS1c.1613G>T (p.Gly538Val)
c.1554G>T
c.1577G>T (p.Gly526Val)
c.1328G>T (p.Gly443Val)
c.1236G>T (p.Gly412=)
n.1762G>T
c.1586G>T (p.Gly529Val)
gnomAD v4
4g.6301373C>ACA438368596WFS1c.1614C>A (p.Gly538=)
c.1555C>A
c.1578C>A (p.Gly526=)
c.1329C>A (p.Gly443=)
c.1237C>A (p.His413Asn)
n.1763C>A
c.1587C>A (p.Gly529=)
COSMIC
4g.6301373C=CA1435773390WFS1c.1614C= (p.Gly538=)
c.1555C=
c.1578C= (p.Gly526=)
c.1329C= (p.Gly443=)
c.1237C= (p.His413=)
n.1763C=
c.1587C= (p.Gly529=)
4g.6301373C>GCA438368597WFS1c.1614C>G (p.Gly538=)
c.1555C>G
c.1578C>G (p.Gly526=)
c.1329C>G (p.Gly443=)
c.1237C>G (p.His413Asp)
n.1763C>G
c.1587C>G (p.Gly529=)
4g.6301373C>TCA2839407WFS1c.1614C>T (p.Gly538=)
c.1555C>T
c.1578C>T (p.Gly526=)
c.1329C>T (p.Gly443=)
c.1237C>T (p.His413Tyr)
n.1763C>T
c.1587C>T (p.Gly529=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301374A>CCA356176053WFS1c.1615A>C (p.Thr539Pro)
c.1556A>C
c.1579A>C (p.Thr527Pro)
c.1330A>C (p.Thr444Pro)
c.1238A>C (p.His413Pro)
n.1764A>C
c.1588A>C (p.Thr530Pro)
gnomAD v4
4g.6301374A>GCA356176056WFS1c.1615A>G (p.Thr539Ala)
c.1556A>G
c.1579A>G (p.Thr527Ala)
c.1330A>G (p.Thr444Ala)
c.1238A>G (p.His413Arg)
n.1764A>G
c.1588A>G (p.Thr530Ala)
4g.6301374A>TCA356176059WFS1c.1615A>T (p.Thr539Ser)
c.1556A>T
c.1579A>T (p.Thr527Ser)
c.1330A>T (p.Thr444Ser)
c.1238A>T (p.His413Leu)
n.1764A>T
c.1588A>T (p.Thr530Ser)
4g.6301375C>ACA356176071WFS1c.1616C>A (p.Thr539Asn)
c.1557C>A
c.1580C>A (p.Thr527Asn)
c.1331C>A (p.Thr444Asn)
c.1239C>A (p.His413Gln)
n.1765C>A
c.1589C>A (p.Thr530Asn)
4g.6301375C=CA1435773393WFS1c.1616C= (p.Thr539=)
c.1557C=
c.1580C= (p.Thr527=)
c.1331C= (p.Thr444=)
c.1239C= (p.His413=)
n.1765C=
c.1589C= (p.Thr530=)
4g.6301375C>GCA356176074WFS1c.1616C>G (p.Thr539Ser)
c.1557C>G
c.1580C>G (p.Thr527Ser)
c.1331C>G (p.Thr444Ser)
c.1239C>G (p.His413Gln)
n.1765C>G
c.1589C>G (p.Thr530Ser)
gnomAD v4
4g.6301375C>TCA2839408WFS1c.1616C>T (p.Thr539Ile)
c.1557C>T
c.1580C>T (p.Thr527Ile)
c.1331C>T (p.Thr444Ile)
c.1239C>T (p.His413=)
n.1765C>T
c.1589C>T (p.Thr530Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301376dupCA2586973629WFS1c.1617dup (p.Tyr540LeufsTer15)
c.1558dup
c.1581dup (p.Tyr528LeufsTer15)
c.1332dup (p.Tyr445LeufsTer15)
c.1240dup (p.Leu414ProfsTer?)
n.1766dup
c.1590dup (p.Tyr531LeufsTer15)
4g.6301376C>ACA438368602WFS1c.1617C>A (p.Thr539=)
c.1558C>A
c.1581C>A (p.Thr527=)
c.1332C>A (p.Thr444=)
c.1240C>A (p.Leu414Ile)
n.1766C>A
c.1590C>A (p.Thr530=)
4g.6301376C=CA1435773399WFS1c.1617C= (p.Thr539=)
c.1558C=
c.1581C= (p.Thr527=)
c.1332C= (p.Thr444=)
c.1240C= (p.Leu414=)
n.1766C=
c.1590C= (p.Thr530=)
4g.6301376C>GCA2839409WFS1c.1617C>G (p.Thr539=)
c.1558C>G
c.1581C>G (p.Thr527=)
c.1332C>G (p.Thr444=)
c.1240C>G (p.Leu414Val)
n.1766C>G
c.1590C>G (p.Thr530=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301376C>TCA2839410WFS1c.1617C>T (p.Thr539=)
c.1558C>T
c.1581C>T (p.Thr527=)
c.1332C>T (p.Thr444=)
c.1240C>T (p.Leu414=)
n.1766C>T
c.1590C>T (p.Thr530=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301377T>ACA356176095WFS1c.1618T>A (p.Tyr540Asn)
c.1559T>A
c.1582T>A (p.Tyr528Asn)
c.1333T>A (p.Tyr445Asn)
c.1241T>A (p.Leu414Gln)
n.1767T>A
c.1591T>A (p.Tyr531Asn)
4g.6301377T>CCA2839411WFS1c.1618T>C (p.Tyr540His)
c.1559T>C
c.1582T>C (p.Tyr528His)
c.1333T>C (p.Tyr445His)
c.1241T>C (p.Leu414Pro)
n.1767T>C
c.1591T>C (p.Tyr531His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301377T>GCA356176098WFS1c.1618T>G (p.Tyr540Asp)
c.1559T>G
c.1582T>G (p.Tyr528Asp)
c.1333T>G (p.Tyr445Asp)
c.1241T>G (p.Leu414Arg)
n.1767T>G
c.1591T>G (p.Tyr531Asp)
dbSNP gnomAD v2 gnomAD v4
4g.6301377T=CA1435773403WFS1c.1618T= (p.Tyr540=)
c.1559T=
c.1582T= (p.Tyr528=)
c.1333T= (p.Tyr445=)
c.1241T= (p.Leu414=)
n.1767T=
c.1591T= (p.Tyr531=)
4g.6301378A=CA1435773407WFS1c.1619A= (p.Tyr540=)
c.1560A=
c.1583A= (p.Tyr528=)
c.1334A= (p.Tyr445=)
c.1242A= (p.Leu414=)
n.1768A=
c.1592A= (p.Tyr531=)
4g.6301378A>CCA356176109WFS1c.1619A>C (p.Tyr540Ser)
c.1560A>C
c.1583A>C (p.Tyr528Ser)
c.1334A>C (p.Tyr445Ser)
c.1242A>C (p.Leu414=)
n.1768A>C
c.1592A>C (p.Tyr531Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301378A>GCA356176108WFS1c.1619A>G (p.Tyr540Cys)
c.1560A>G
c.1583A>G (p.Tyr528Cys)
c.1334A>G (p.Tyr445Cys)
c.1242A>G (p.Leu414=)
n.1768A>G
c.1592A>G (p.Tyr531Cys)
ClinVar dbSNP gnomAD v4
4g.6301378A>TCA356176100WFS1c.1619A>T (p.Tyr540Phe)
c.1560A>T
c.1583A>T (p.Tyr528Phe)
c.1334A>T (p.Tyr445Phe)
c.1242A>T (p.Leu414=)
n.1768A>T
c.1592A>T (p.Tyr531Phe)
4g.6301378dupCA1435773406WFS1c.1619dup (p.Tyr540Ter)
c.1560dup
c.1583dup (p.Tyr528Ter)
c.1334dup (p.Tyr445Ter)
c.1242dup (p.Leu415ThrfsTer?)
n.1768dup
c.1592dup (p.Tyr531Ter)
dbSNP
4g.6301379C>ACA356176111WFS1c.1620C>A (p.Tyr540Ter)
c.1561C>A
c.1584C>A (p.Tyr528Ter)
c.1335C>A (p.Tyr445Ter)
c.1243C>A (p.Leu415Met)
n.1769C>A
c.1593C>A (p.Tyr531Ter)
4g.6301379C=CA1435773410WFS1c.1620C= (p.Tyr540=)
c.1561C=
c.1584C= (p.Tyr528=)
c.1335C= (p.Tyr445=)
c.1243C= (p.Leu415=)
n.1769C=
c.1593C= (p.Tyr531=)
4g.6301379C>GCA2839412WFS1c.1620C>G (p.Tyr540Ter)
c.1561C>G
c.1584C>G (p.Tyr528Ter)
c.1335C>G (p.Tyr445Ter)
c.1243C>G (p.Leu415Val)
n.1769C>G
c.1593C>G (p.Tyr531Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301379C>TCA438368603WFS1c.1620C>T (p.Tyr540=)
c.1561C>T
c.1584C>T (p.Tyr528=)
c.1335C>T (p.Tyr445=)
c.1243C>T (p.Leu415=)
n.1769C>T
c.1593C>T (p.Tyr531=)
gnomAD v4
4g.6301380T>ACA356176112WFS1c.1621T>A (p.Cys541Ser)
c.1562T>A
c.1585T>A (p.Cys529Ser)
c.1336T>A (p.Cys446Ser)
c.1244T>A (p.Leu415Gln)
n.1770T>A
c.1594T>A (p.Cys532Ser)
4g.6301380T>CCA356176113WFS1c.1621T>C (p.Cys541Arg)
c.1562T>C
c.1585T>C (p.Cys529Arg)
c.1336T>C (p.Cys446Arg)
c.1244T>C (p.Leu415Pro)
n.1770T>C
c.1594T>C (p.Cys532Arg)
gnomAD v4
4g.6301380T>GCA356176114WFS1c.1621T>G (p.Cys541Gly)
c.1562T>G
c.1585T>G (p.Cys529Gly)
c.1336T>G (p.Cys446Gly)
c.1244T>G (p.Leu415Arg)
n.1770T>G
c.1594T>G (p.Cys532Gly)
4g.6301381G>ACA356176115WFS1c.1622G>A (p.Cys541Tyr)
c.1563G>A
c.1586G>A (p.Cys529Tyr)
c.1337G>A (p.Cys446Tyr)
c.1245G>A (p.Leu415=)
n.1771G>A
c.1595G>A (p.Cys532Tyr)
dbSNP gnomAD v4
4g.6301381G>CCA356176116WFS1c.1622G>C (p.Cys541Ser)
c.1563G>C
c.1586G>C (p.Cys529Ser)
c.1337G>C (p.Cys446Ser)
c.1245G>C (p.Leu415=)
n.1771G>C
c.1595G>C (p.Cys532Ser)
4g.6301381G=CA1435773414WFS1c.1622G= (p.Cys541=)
c.1563G=
c.1586G= (p.Cys529=)
c.1337G= (p.Cys446=)
c.1245G= (p.Leu415=)
n.1771G=
c.1595G= (p.Cys532=)
4g.6301381G>TCA356176117WFS1c.1622G>T (p.Cys541Phe)
c.1563G>T
c.1586G>T (p.Cys529Phe)
c.1337G>T (p.Cys446Phe)
c.1245G>T (p.Leu415=)
n.1771G>T
c.1595G>T (p.Cys532Phe)
gnomAD v4
4g.6301382C>ACA356176118WFS1c.1623C>A (p.Cys541Ter)
c.1564C>A
c.1587C>A (p.Cys529Ter)
c.1338C>A (p.Cys446Ter)
c.1246C>A (p.Leu416Ile)
n.1772C>A
c.1596C>A (p.Cys532Ter)
4g.6301382C=CA1435773416WFS1c.1623C= (p.Cys541=)
c.1564C=
c.1587C= (p.Cys529=)
c.1338C= (p.Cys446=)
c.1246C= (p.Leu416=)
n.1772C=
c.1596C= (p.Cys532=)
4g.6301382C>GCA2839413WFS1c.1623C>G (p.Cys541Trp)
c.1564C>G
c.1587C>G (p.Cys529Trp)
c.1338C>G (p.Cys446Trp)
c.1246C>G (p.Leu416Val)
n.1772C>G
c.1596C>G (p.Cys532Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301382C>TCA438368605WFS1c.1623C>T (p.Cys541=)
c.1564C>T
c.1587C>T (p.Cys529=)
c.1338C>T (p.Cys446=)
c.1246C>T (p.Leu416=)
n.1772C>T
c.1596C>T (p.Cys532=)
gnomAD v4
4g.6301384_6301387dupCA2586973630WFS1c.1625_1628dup (p.Val544ProfsTer12)
c.1566_1569dup
c.1589_1592dup (p.Val532ProfsTer12)
c.1340_1343dup (p.Val449ProfsTer12)
c.1248_1251dup (p.Cys418ThrfsTer?)
n.1774_1777dup
c.1598_1601dup (p.Val535ProfsTer12)
4g.6301383T>ACA356176122WFS1c.1624T>A (p.Tyr542Asn)
c.1565T>A
c.1588T>A (p.Tyr530Asn)
c.1339T>A (p.Tyr447Asn)
c.1247T>A (p.Leu416Gln)
n.1773T>A
c.1597T>A (p.Tyr533Asn)
ClinVar
4g.6301383T>CCA356176123WFS1c.1624T>C (p.Tyr542His)
c.1565T>C
c.1588T>C (p.Tyr530His)
c.1339T>C (p.Tyr447His)
c.1247T>C (p.Leu416Pro)
n.1773T>C
c.1597T>C (p.Tyr533His)
gnomAD v4
4g.6301383T>GCA356176127WFS1c.1624T>G (p.Tyr542Asp)
c.1565T>G
c.1588T>G (p.Tyr530Asp)
c.1339T>G (p.Tyr447Asp)
c.1247T>G (p.Leu416Arg)
n.1773T>G
c.1597T>G (p.Tyr533Asp)
4g.6301384A>CCA356176133WFS1c.1625A>C (p.Tyr542Ser)
c.1566A>C
c.1589A>C (p.Tyr530Ser)
c.1340A>C (p.Tyr447Ser)
c.1248A>C (p.Leu416=)
n.1774A>C
c.1598A>C (p.Tyr533Ser)
4g.6301384A>GCA356176131WFS1c.1625A>G (p.Tyr542Cys)
c.1566A>G
c.1589A>G (p.Tyr530Cys)
c.1340A>G (p.Tyr447Cys)
c.1248A>G (p.Leu416=)
n.1774A>G
c.1598A>G (p.Tyr533Cys)
ClinVar
4g.6301384A>TCA356176129WFS1c.1625A>T (p.Tyr542Phe)
c.1566A>T
c.1589A>T (p.Tyr530Phe)
c.1340A>T (p.Tyr447Phe)
c.1248A>T (p.Leu416=)
n.1774A>T
c.1598A>T (p.Tyr533Phe)
4g.6301385C>ACA356176137WFS1c.1626C>A (p.Tyr542Ter)
c.1567C>A
c.1590C>A (p.Tyr530Ter)
c.1341C>A (p.Tyr447Ter)
c.1249C>A (p.Pro417Thr)
n.1775C>A
c.1599C>A (p.Tyr533Ter)
4g.6301385C=CA1435773418WFS1c.1626C= (p.Tyr542=)
c.1567C=
c.1590C= (p.Tyr530=)
c.1341C= (p.Tyr447=)
c.1249C= (p.Pro417=)
n.1775C=
c.1599C= (p.Tyr533=)
4g.6301385C>GCA356176140WFS1c.1626C>G (p.Tyr542Ter)
c.1567C>G
c.1590C>G (p.Tyr530Ter)
c.1341C>G (p.Tyr447Ter)
c.1249C>G (p.Pro417Ala)
n.1775C>G
c.1599C>G (p.Tyr533Ter)
dbSNP gnomAD v4
4g.6301385C>TCA2839414WFS1c.1626C>T (p.Tyr542=)
c.1567C>T
c.1590C>T (p.Tyr530=)
c.1341C>T (p.Tyr447=)
c.1249C>T (p.Pro417Ser)
n.1775C>T
c.1599C>T (p.Tyr533=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301385_6301388dupCA2586973631WFS1c.1626_1629dup (p.Val544ProfsTer12)
c.1567_1570dup
c.1590_1593dup (p.Val532ProfsTer12)
c.1341_1344dup (p.Val449ProfsTer12)
c.1249_1252dup (p.Cys418SerfsTer?)
n.1775_1778dup
c.1599_1602dup (p.Val535ProfsTer12)
gnomAD v4
4g.6301386C>ACA356176147WFS1c.1627C>A (p.Leu543Ile)
c.1568C>A
c.1591C>A (p.Leu531Ile)
c.1342C>A (p.Leu448Ile)
c.1250C>A (p.Pro417His)
n.1776C>A
c.1600C>A (p.Leu534Ile)
4g.6301386C=CA1435773421WFS1c.1627C= (p.Leu543=)
c.1568C=
c.1591C= (p.Leu531=)
c.1342C= (p.Leu448=)
c.1250C= (p.Pro417=)
n.1776C=
c.1600C= (p.Leu534=)
4g.6301386C>GCA356176149WFS1c.1627C>G (p.Leu543Val)
c.1568C>G
c.1591C>G (p.Leu531Val)
c.1342C>G (p.Leu448Val)
c.1250C>G (p.Pro417Arg)
n.1776C>G
c.1600C>G (p.Leu534Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301386C>TCA2839415WFS1c.1627C>T (p.Leu543Phe)
c.1568C>T
c.1591C>T (p.Leu531Phe)
c.1342C>T (p.Leu448Phe)
c.1250C>T (p.Pro417Leu)
n.1776C>T
c.1600C>T (p.Leu534Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301387T>ACA356176153WFS1c.1628T>A (p.Leu543His)
c.1569T>A
c.1592T>A (p.Leu531His)
c.1343T>A (p.Leu448His)
c.1251T>A (p.Pro417=)
n.1777T>A
c.1601T>A (p.Leu534His)
4g.6301387T>CCA356176154WFS1c.1628T>C (p.Leu543Pro)
c.1569T>C
c.1592T>C (p.Leu531Pro)
c.1343T>C (p.Leu448Pro)
c.1251T>C (p.Pro417=)
n.1777T>C
c.1601T>C (p.Leu534Pro)
gnomAD v4
4g.6301387T>GCA2839416WFS1c.1628T>G (p.Leu543Arg)
c.1569T>G
c.1592T>G (p.Leu531Arg)
c.1343T>G (p.Leu448Arg)
c.1251T>G (p.Pro417=)
n.1777T>G
c.1601T>G (p.Leu534Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301387T=CA1435773427WFS1c.1628T= (p.Leu543=)
c.1569T=
c.1592T= (p.Leu531=)
c.1343T= (p.Leu448=)
c.1251T= (p.Pro417=)
n.1777T=
c.1601T= (p.Leu534=)
4g.6301388T>ACA438368613WFS1c.1629T>A (p.Leu543=)
c.1570T>A
c.1593T>A (p.Leu531=)
c.1344T>A (p.Leu448=)
c.1252T>A (p.Cys418Ser)
n.1778T>A
c.1602T>A (p.Leu534=)
4g.6301388T>CCA438368612WFS1c.1629T>C (p.Leu543=)
c.1570T>C
c.1593T>C (p.Leu531=)
c.1344T>C (p.Leu448=)
c.1252T>C (p.Cys418Arg)
n.1778T>C
c.1602T>C (p.Leu534=)
4g.6301388T>GCA438368610WFS1c.1629T>G (p.Leu543=)
c.1570T>G
c.1593T>G (p.Leu531=)
c.1344T>G (p.Leu448=)
c.1252T>G (p.Cys418Gly)
n.1778T>G
c.1602T>G (p.Leu534=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301388T=CA1435773428WFS1c.1629T= (p.Leu543=)
c.1570T=
c.1593T= (p.Leu531=)
c.1344T= (p.Leu448=)
c.1252T= (p.Cys418=)
n.1778T=
c.1602T= (p.Leu534=)
4g.6301389G>ACA356176156WFS1c.1630G>A (p.Val544Met)
c.1571G>A
c.1594G>A (p.Val532Met)
c.1345G>A (p.Val449Met)
c.1253G>A (p.Cys418Tyr)
n.1779G>A
c.1603G>A (p.Val535Met)
4g.6301389G>CCA356176157WFS1c.1630G>C (p.Val544Leu)
c.1571G>C
c.1594G>C (p.Val532Leu)
c.1345G>C (p.Val449Leu)
c.1253G>C (p.Cys418Ser)
n.1779G>C
c.1603G>C (p.Val535Leu)
4g.6301389G=CA1435773430WFS1c.1630G= (p.Val544=)
c.1571G=
c.1594G= (p.Val532=)
c.1345G= (p.Val449=)
c.1253G= (p.Cys418=)
n.1779G=
c.1603G= (p.Val535=)
4g.6301389G>TCA2839417WFS1c.1630G>T (p.Val544Leu)
c.1571G>T
c.1594G>T (p.Val532Leu)
c.1345G>T (p.Val449Leu)
c.1253G>T (p.Cys418Phe)
n.1779G>T
c.1603G>T (p.Val535Leu)
dbSNP ExAC gnomAD v2
4g.6301390T>ACA356176161WFS1c.1631T>A (p.Val544Glu)
c.1572T>A
c.1595T>A (p.Val532Glu)
c.1346T>A (p.Val449Glu)
c.1254T>A (p.Cys418Ter)
n.1780T>A
c.1604T>A (p.Val535Glu)
4g.6301390T>CCA356176162WFS1c.1631T>C (p.Val544Ala)
c.1572T>C
c.1595T>C (p.Val532Ala)
c.1346T>C (p.Val449Ala)
c.1254T>C (p.Cys418=)
n.1780T>C
c.1604T>C (p.Val535Ala)
4g.6301390T>GCA356176158WFS1c.1631T>G (p.Val544Gly)
c.1572T>G
c.1595T>G (p.Val532Gly)
c.1346T>G (p.Val449Gly)
c.1254T>G (p.Cys418Trp)
n.1780T>G
c.1604T>G (p.Val535Gly)
4g.6301391G>ACA438368618WFS1c.1632G>A (p.Val544=)
c.1573G>A
c.1596G>A (p.Val532=)
c.1347G>A (p.Val449=)
c.1255G>A (p.Ala419Thr)
n.1781G>A
c.1605G>A (p.Val535=)
ClinVar COSMIC
4g.6301391G>CCA438368616WFS1c.1632G>C (p.Val544=)
c.1573G>C
c.1596G>C (p.Val532=)
c.1347G>C (p.Val449=)
c.1255G>C (p.Ala419Pro)
n.1781G>C
c.1605G>C (p.Val535=)
4g.6301391G>TCA438368614WFS1c.1632G>T (p.Val544=)
c.1573G>T
c.1596G>T (p.Val532=)
c.1347G>T (p.Val449=)
c.1255G>T (p.Ala419Ser)
n.1781G>T
c.1605G>T (p.Val535=)
gnomAD v4
4g.6301392C>ACA356176165WFS1c.1633C>A (p.Pro545Thr)
c.1574C>A
c.1597C>A (p.Pro533Thr)
c.1348C>A (p.Pro450Thr)
c.1256C>A (p.Ala419Asp)
n.1782C>A
c.1606C>A (p.Pro536Thr)
4g.6301392C=CA1435773437WFS1c.1633C= (p.Pro545=)
c.1574C=
c.1597C= (p.Pro533=)
c.1348C= (p.Pro450=)
c.1256C= (p.Ala419=)
n.1782C=
c.1606C= (p.Pro536=)
4g.6301392C>GCA356176166WFS1c.1633C>G (p.Pro545Ala)
c.1574C>G
c.1597C>G (p.Pro533Ala)
c.1348C>G (p.Pro450Ala)
c.1256C>G (p.Ala419Gly)
n.1782C>G
c.1606C>G (p.Pro536Ala)
dbSNP gnomAD v3 gnomAD v4
4g.6301392C>TCA232537WFS1c.1633C>T (p.Pro545Ser)
c.1574C>T
c.1597C>T (p.Pro533Ser)
c.1348C>T (p.Pro450Ser)
c.1256C>T (p.Ala419Val)
n.1782C>T
c.1606C>T (p.Pro536Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301393C>ACA356176169WFS1c.1634C>A (p.Pro545His)
c.1575C>A
c.1598C>A (p.Pro533His)
c.1349C>A (p.Pro450His)
c.1257C>A (p.Ala419=)
n.1783C>A
c.1607C>A (p.Pro536His)
4g.6301393C>GCA356176171WFS1c.1634C>G (p.Pro545Arg)
c.1575C>G
c.1598C>G (p.Pro533Arg)
c.1349C>G (p.Pro450Arg)
c.1257C>G (p.Ala419=)
n.1783C>G
c.1607C>G (p.Pro536Arg)
4g.6301393C>TCA356176172WFS1c.1634C>T (p.Pro545Leu)
c.1575C>T
c.1598C>T (p.Pro533Leu)
c.1349C>T (p.Pro450Leu)
c.1257C>T (p.Ala419=)
n.1783C>T
c.1607C>T (p.Pro536Leu)
gnomAD v4
4g.6301394C>ACA438368620WFS1c.1635C>A (p.Pro545=)
c.1576C>A
c.1599C>A (p.Pro533=)
c.1350C>A (p.Pro450=)
c.1258C>A (p.Leu420Ile)
n.1784C>A
c.1608C>A (p.Pro536=)
4g.6301394C=CA1435773442WFS1c.1635C= (p.Pro545=)
c.1576C=
c.1599C= (p.Pro533=)
c.1350C= (p.Pro450=)
c.1258C= (p.Leu420=)
n.1784C=
c.1608C= (p.Pro536=)
4g.6301394C>GCA438368623WFS1c.1635C>G (p.Pro545=)
c.1576C>G
c.1599C>G (p.Pro533=)
c.1350C>G (p.Pro450=)
c.1258C>G (p.Leu420Val)
n.1784C>G
c.1608C>G (p.Pro536=)
gnomAD v4
4g.6301394C>TCA438368621WFS1c.1635C>T (p.Pro545=)
c.1576C>T
c.1599C>T (p.Pro533=)
c.1350C>T (p.Pro450=)
c.1258C>T (p.Leu420=)
n.1784C>T
c.1608C>T (p.Pro536=)
dbSNP gnomAD v4
4g.6301395T>ACA356176174WFS1c.1636T>A (p.Tyr546Asn)
c.1577T>A
c.1600T>A (p.Tyr534Asn)
c.1351T>A (p.Tyr451Asn)
c.1259T>A (p.Leu420Gln)
n.1785T>A
c.1609T>A (p.Tyr537Asn)
4g.6301395T>CCA356176178WFS1c.1636T>C (p.Tyr546His)
c.1577T>C
c.1600T>C (p.Tyr534His)
c.1351T>C (p.Tyr451His)
c.1259T>C (p.Leu420Pro)
n.1785T>C
c.1609T>C (p.Tyr537His)
gnomAD v4
4g.6301395T>GCA356176180WFS1c.1636T>G (p.Tyr546Asp)
c.1577T>G
c.1600T>G (p.Tyr534Asp)
c.1351T>G (p.Tyr451Asp)
c.1259T>G (p.Leu420Arg)
n.1785T>G
c.1609T>G (p.Tyr537Asp)
4g.6301396A>CCA356176182WFS1c.1637A>C (p.Tyr546Ser)
c.1578A>C
c.1601A>C (p.Tyr534Ser)
c.1352A>C (p.Tyr451Ser)
c.1260A>C (p.Leu420=)
n.1786A>C
c.1610A>C (p.Tyr537Ser)
4g.6301396A>GCA356176184WFS1c.1637A>G (p.Tyr546Cys)
c.1578A>G
c.1601A>G (p.Tyr534Cys)
c.1352A>G (p.Tyr451Cys)
c.1260A>G (p.Leu420=)
n.1786A>G
c.1610A>G (p.Tyr537Cys)
4g.6301396A>TCA356176185WFS1c.1637A>T (p.Tyr546Phe)
c.1578A>T
c.1601A>T (p.Tyr534Phe)
c.1352A>T (p.Tyr451Phe)
c.1260A>T (p.Leu420=)
n.1786A>T
c.1610A>T (p.Tyr537Phe)
4g.6301397C>ACA356176188WFS1c.1638C>A (p.Tyr546Ter)
c.1579C>A
c.1602C>A (p.Tyr534Ter)
c.1353C>A (p.Tyr451Ter)
c.1261C>A (p.Pro421Thr)
n.1787C>A
c.1611C>A (p.Tyr537Ter)
4g.6301397C=CA1435773445WFS1c.1638C= (p.Tyr546=)
c.1579C=
c.1602C= (p.Tyr534=)
c.1353C= (p.Tyr451=)
c.1261C= (p.Pro421=)
n.1787C=
c.1611C= (p.Tyr537=)
4g.6301397C>GCA356176190WFS1c.1638C>G (p.Tyr546Ter)
c.1579C>G
c.1602C>G (p.Tyr534Ter)
c.1353C>G (p.Tyr451Ter)
c.1261C>G (p.Pro421Ala)
n.1787C>G
c.1611C>G (p.Tyr537Ter)
4g.6301397C>TCA2839418WFS1c.1638C>T (p.Tyr546=)
c.1579C>T
c.1602C>T (p.Tyr534=)
c.1353C>T (p.Tyr451=)
c.1261C>T (p.Pro421Ser)
n.1787C>T
c.1611C>T (p.Tyr537=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301398C>ACA356176193WFS1c.1639C>A (p.Leu547Met)
c.1580C>A
c.1603C>A (p.Leu535Met)
c.1354C>A (p.Leu452Met)
c.1262C>A (p.Pro421His)
n.1788C>A
c.1612C>A (p.Leu538Met)
4g.6301398C=CA1435773448WFS1c.1639C= (p.Leu547=)
c.1580C=
c.1603C= (p.Leu535=)
c.1354C= (p.Leu452=)
c.1262C= (p.Pro421=)
n.1788C=
c.1612C= (p.Leu538=)
4g.6301398C>GCA356176205WFS1c.1639C>G (p.Leu547Val)
c.1580C>G
c.1603C>G (p.Leu535Val)
c.1354C>G (p.Leu452Val)
c.1262C>G (p.Pro421Arg)
n.1788C>G
c.1612C>G (p.Leu538Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301398C>TCA438368628WFS1c.1639C>T (p.Leu547=)
c.1580C>T
c.1603C>T (p.Leu535=)
c.1354C>T (p.Leu452=)
c.1262C>T (p.Pro421Leu)
n.1788C>T
c.1612C>T (p.Leu538=)
ClinVar gnomAD v4
4g.6301398_6301412delinsCTGGTGTGCTTCATGCA1435773449WFS1c.1639_1653delinsCTGGTGTGCTTCATG (p.Leu547=)
c.1580_1594delinsCTGGTGTGCTTCATG
c.1603_1617delinsCTGGTGTGCTTCATG (p.Leu535=)
c.1354_1368delinsCTGGTGTGCTTCATG (p.Leu452=)
c.1262_1276delinsCTGGTGTGCTTCATG (p.Pro421=)
n.1788_1802delinsCTGGTGTGCTTCATG
c.1612_1626delinsCTGGTGTGCTTCATG (p.Leu538=)
4g.6301399T>ACA356176208WFS1c.1640T>A (p.Leu547Gln)
c.1581T>A
c.1604T>A (p.Leu535Gln)
c.1355T>A (p.Leu452Gln)
c.1263T>A (p.Pro421=)
n.1789T>A
c.1613T>A (p.Leu538Gln)
4g.6301399T>CCA356176211WFS1c.1640T>C (p.Leu547Pro)
c.1581T>C
c.1604T>C (p.Leu535Pro)
c.1355T>C (p.Leu452Pro)
c.1263T>C (p.Pro421=)
n.1789T>C
c.1613T>C (p.Leu538Pro)
4g.6301399T>GCA356176213WFS1c.1640T>G (p.Leu547Arg)
c.1581T>G
c.1604T>G (p.Leu535Arg)
c.1355T>G (p.Leu452Arg)
c.1263T>G (p.Pro421=)
n.1789T>G
c.1613T>G (p.Leu538Arg)
4g.6301406_6301419delCA917120719WFS1c.1647_1660del (p.Cys549Ter)
c.1588_1601del
c.1611_1624del (p.Cys537Ter)
c.1362_1375del (p.Cys454Ter)
c.1270_1283del (p.Leu424SerfsTer?)
n.1796_1809del
c.1620_1633del (p.Cys540Ter)
ClinVar dbSNP gnomAD v4
4g.6301400G>ACA91796385WFS1c.1641G>A (p.Leu547=)
c.1582G>A
c.1605G>A (p.Leu535=)
c.1356G>A (p.Leu452=)
c.1264G>A (p.Gly422Ser)
n.1790G>A
c.1614G>A (p.Leu538=)
ClinVar dbSNP gnomAD v4
4g.6301400G>CCA438368630WFS1c.1641G>C (p.Leu547=)
c.1582G>C
c.1605G>C (p.Leu535=)
c.1356G>C (p.Leu452=)
c.1264G>C (p.Gly422Arg)
n.1790G>C
c.1614G>C (p.Leu538=)
ClinVar dbSNP gnomAD v4
4g.6301400G=CA1435773453WFS1c.1641G= (p.Leu547=)
c.1582G=
c.1605G= (p.Leu535=)
c.1356G= (p.Leu452=)
c.1264G= (p.Gly422=)
n.1790G=
c.1614G= (p.Leu538=)
4g.6301400G>TCA438368629WFS1c.1641G>T (p.Leu547=)
c.1582G>T
c.1605G>T (p.Leu535=)
c.1356G>T (p.Leu452=)
c.1264G>T (p.Gly422Cys)
n.1790G>T
c.1614G>T (p.Leu538=)
gnomAD v4
4g.6301401G>ACA356176216WFS1c.1642G>A (p.Val548Met)
c.1583G>A
c.1606G>A (p.Val536Met)
c.1357G>A (p.Val453Met)
c.1265G>A (p.Gly422Asp)
n.1791G>A
c.1615G>A (p.Val539Met)
gnomAD v4
4g.6301401G>CCA356176224WFS1c.1642G>C (p.Val548Leu)
c.1583G>C
c.1606G>C (p.Val536Leu)
c.1357G>C (p.Val453Leu)
c.1265G>C (p.Gly422Ala)
n.1791G>C
c.1615G>C (p.Val539Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301401G=CA1435773456WFS1c.1642G= (p.Val548=)
c.1583G=
c.1606G= (p.Val536=)
c.1357G= (p.Val453=)
c.1265G= (p.Gly422=)
n.1791G=
c.1615G= (p.Val539=)
4g.6301401G>TCA356176219WFS1c.1642G>T (p.Val548Leu)
c.1583G>T
c.1606G>T (p.Val536Leu)
c.1357G>T (p.Val453Leu)
c.1265G>T (p.Gly422Val)
n.1791G>T
c.1615G>T (p.Val539Leu)
gnomAD v4
4g.6301402T>ACA356176227WFS1c.1643T>A (p.Val548Glu)
c.1584T>A
c.1607T>A (p.Val536Glu)
c.1358T>A (p.Val453Glu)
c.1266T>A (p.Gly422=)
n.1792T>A
c.1616T>A (p.Val539Glu)
ClinVar dbSNP gnomAD v4
4g.6301402T>CCA356176229WFS1c.1643T>C (p.Val548Ala)
c.1584T>C
c.1607T>C (p.Val536Ala)
c.1358T>C (p.Val453Ala)
c.1266T>C (p.Gly422=)
n.1792T>C
c.1616T>C (p.Val539Ala)
4g.6301402T>GCA356176239WFS1c.1643T>G (p.Val548Gly)
c.1584T>G
c.1607T>G (p.Val536Gly)
c.1358T>G (p.Val453Gly)
c.1266T>G (p.Gly422=)
n.1792T>G
c.1616T>G (p.Val539Gly)
4g.6301402T=CA1435773461WFS1c.1643T= (p.Val548=)
c.1584T=
c.1607T= (p.Val536=)
c.1358T= (p.Val453=)
c.1266T= (p.Gly422=)
n.1792T=
c.1616T= (p.Val539=)
4g.6301403G>ACA91796389WFS1c.1644G>A (p.Val548=)
c.1585G>A
c.1608G>A (p.Val536=)
c.1359G>A (p.Val453=)
c.1267G>A (p.Val423Met)
n.1793G>A
c.1617G>A (p.Val539=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301403G>CCA2839419WFS1c.1644G>C (p.Val548=)
c.1585G>C
c.1608G>C (p.Val536=)
c.1359G>C (p.Val453=)
c.1267G>C (p.Val423Leu)
n.1793G>C
c.1617G>C (p.Val539=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301403G=CA1435773468WFS1c.1644G= (p.Val548=)
c.1585G=
c.1608G= (p.Val536=)
c.1359G= (p.Val453=)
c.1267G= (p.Val423=)
n.1793G=
c.1617G= (p.Val539=)
4g.6301403G>TCA438368631WFS1c.1644G>T (p.Val548=)
c.1585G>T
c.1608G>T (p.Val536=)
c.1359G>T (p.Val453=)
c.1267G>T (p.Val423Leu)
n.1793G>T
c.1617G>T (p.Val539=)
4g.6301404T>ACA356176250WFS1c.1645T>A (p.Cys549Ser)
c.1586T>A
c.1609T>A (p.Cys537Ser)
c.1360T>A (p.Cys454Ser)
c.1268T>A (p.Val423Glu)
n.1794T>A
c.1618T>A (p.Cys540Ser)
4g.6301404T>CCA356176248WFS1c.1645T>C (p.Cys549Arg)
c.1586T>C
c.1609T>C (p.Cys537Arg)
c.1360T>C (p.Cys454Arg)
c.1268T>C (p.Val423Ala)
n.1794T>C
c.1618T>C (p.Cys540Arg)
gnomAD v4
4g.6301404T>GCA356176243WFS1c.1645T>G (p.Cys549Gly)
c.1586T>G
c.1609T>G (p.Cys537Gly)
c.1360T>G (p.Cys454Gly)
c.1268T>G (p.Val423Gly)
n.1794T>G
c.1618T>G (p.Cys540Gly)
gnomAD v4
4g.6301405G>ACA324604WFS1c.1646G>A (p.Cys549Tyr)
c.1587G>A
c.1610G>A (p.Cys537Tyr)
c.1361G>A (p.Cys454Tyr)
c.1269G>A (p.Val423=)
n.1795G>A
c.1619G>A (p.Cys540Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301405G>CCA356176254WFS1c.1646G>C (p.Cys549Ser)
c.1587G>C
c.1610G>C (p.Cys537Ser)
c.1361G>C (p.Cys454Ser)
c.1269G>C (p.Val423=)
n.1795G>C
c.1619G>C (p.Cys540Ser)
4g.6301405G=CA1435773474WFS1c.1646G= (p.Cys549=)
c.1587G=
c.1610G= (p.Cys537=)
c.1361G= (p.Cys454=)
c.1269G= (p.Val423=)
n.1795G=
c.1619G= (p.Cys540=)
4g.6301405G>TCA356176253WFS1c.1646G>T (p.Cys549Phe)
c.1587G>T
c.1610G>T (p.Cys537Phe)
c.1361G>T (p.Cys454Phe)
c.1269G>T (p.Val423=)
n.1795G>T
c.1619G>T (p.Cys540Phe)
gnomAD v4
4g.6301405_6301406delinsGCCA1435773479WFS1c.1646_1647delinsGC (p.Cys549=)
c.1587_1588delinsGC
c.1610_1611delinsGC (p.Cys537=)
c.1361_1362delinsGC (p.Cys454=)
c.1269_1270delinsGC (p.Val423=)
n.1795_1796delinsGC
c.1619_1620delinsGC (p.Cys540=)
4g.6301406delCA2839420WFS1c.1647del (p.Phe550SerfsTer?)
c.1588del
c.1611del (p.Phe538SerfsTer?)
c.1362del (p.Phe455SerfsTer?)
c.1270del (p.Leu424PhefsTer?)
n.1796del
c.1620del (p.Phe541SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301406C>ACA356176255WFS1c.1647C>A (p.Cys549Ter)
c.1588C>A
c.1611C>A (p.Cys537Ter)
c.1362C>A (p.Cys454Ter)
c.1270C>A (p.Leu424Ile)
n.1796C>A
c.1620C>A (p.Cys540Ter)
4g.6301406C=CA1435773482WFS1c.1647C= (p.Cys549=)
c.1588C=
c.1611C= (p.Cys537=)
c.1362C= (p.Cys454=)
c.1270C= (p.Leu424=)
n.1796C=
c.1620C= (p.Cys540=)
4g.6301406C>GCA356176256WFS1c.1647C>G (p.Cys549Trp)
c.1588C>G
c.1611C>G (p.Cys537Trp)
c.1362C>G (p.Cys454Trp)
c.1270C>G (p.Leu424Val)
n.1796C>G
c.1620C>G (p.Cys540Trp)
4g.6301406C>TCA2839421WFS1c.1647C>T (p.Cys549=)
c.1588C>T
c.1611C>T (p.Cys537=)
c.1362C>T (p.Cys454=)
c.1270C>T (p.Leu424Phe)
n.1796C>T
c.1620C>T (p.Cys540=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301407T>ACA356176257WFS1c.1648T>A (p.Phe550Ile)
c.1589T>A
c.1612T>A (p.Phe538Ile)
c.1363T>A (p.Phe455Ile)
c.1271T>A (p.Leu424His)
n.1797T>A
c.1621T>A (p.Phe541Ile)
4g.6301407T>CCA356176259WFS1c.1648T>C (p.Phe550Leu)
c.1589T>C
c.1612T>C (p.Phe538Leu)
c.1363T>C (p.Phe455Leu)
c.1271T>C (p.Leu424Pro)
n.1797T>C
c.1621T>C (p.Phe541Leu)
gnomAD v4
4g.6301407T>GCA356176262WFS1c.1648T>G (p.Phe550Val)
c.1589T>G
c.1612T>G (p.Phe538Val)
c.1363T>G (p.Phe455Val)
c.1271T>G (p.Leu424Arg)
n.1797T>G
c.1621T>G (p.Phe541Val)
gnomAD v4
4g.6301408T>ACA356176265WFS1c.1649T>A (p.Phe550Tyr)
c.1590T>A
c.1613T>A (p.Phe538Tyr)
c.1364T>A (p.Phe455Tyr)
c.1272T>A (p.Leu424=)
n.1798T>A
c.1622T>A (p.Phe541Tyr)
4g.6301408T>CCA356176267WFS1c.1649T>C (p.Phe550Ser)
c.1590T>C
c.1613T>C (p.Phe538Ser)
c.1364T>C (p.Phe455Ser)
c.1272T>C (p.Leu424=)
n.1798T>C
c.1622T>C (p.Phe541Ser)
ClinVar dbSNP
4g.6301408T>GCA356176269WFS1c.1649T>G (p.Phe550Cys)
c.1590T>G
c.1613T>G (p.Phe538Cys)
c.1364T>G (p.Phe455Cys)
c.1272T>G (p.Leu424=)
n.1798T>G
c.1622T>G (p.Phe541Cys)
4g.6301408T=CA1435773491WFS1c.1649T= (p.Phe550=)
c.1590T=
c.1613T= (p.Phe538=)
c.1364T= (p.Phe455=)
c.1272T= (p.Leu424=)
n.1798T=
c.1622T= (p.Phe541=)
4g.6301409C>ACA356176271WFS1c.1650C>A (p.Phe550Leu)
c.1591C>A
c.1614C>A (p.Phe538Leu)
c.1365C>A (p.Phe455Leu)
c.1273C>A (p.His425Asn)
n.1799C>A
c.1623C>A (p.Phe541Leu)
gnomAD v4
4g.6301409C=CA1435773500WFS1c.1650C= (p.Phe550=)
c.1591C=
c.1614C= (p.Phe538=)
c.1365C= (p.Phe455=)
c.1273C= (p.His425=)
n.1799C=
c.1623C= (p.Phe541=)
4g.6301409C>GCA356176273WFS1c.1650C>G (p.Phe550Leu)
c.1591C>G
c.1614C>G (p.Phe538Leu)
c.1365C>G (p.Phe455Leu)
c.1273C>G (p.His425Asp)
n.1799C>G
c.1623C>G (p.Phe541Leu)
4g.6301409C>TCA91796396WFS1c.1650C>T (p.Phe550=)
c.1591C>T
c.1614C>T (p.Phe538=)
c.1365C>T (p.Phe455=)
c.1273C>T (p.His425Tyr)
n.1799C>T
c.1623C>T (p.Phe541=)
dbSNP gnomAD v2 gnomAD v4
4g.6301410A=CA1435773501WFS1c.1651A= (p.Met551=)
c.1592A=
c.1615A= (p.Met539=)
c.1366A= (p.Met456=)
c.1274A= (p.His425=)
n.1800A=
c.1624A= (p.Met542=)
4g.6301410A>CCA356176285WFS1c.1651A>C (p.Met551Leu)
c.1592A>C
c.1615A>C (p.Met539Leu)
c.1366A>C (p.Met456Leu)
c.1274A>C (p.His425Pro)
n.1800A>C
c.1624A>C (p.Met542Leu)
4g.6301410A>GCA356176276WFS1c.1651A>G (p.Met551Val)
c.1592A>G
c.1615A>G (p.Met539Val)
c.1366A>G (p.Met456Val)
c.1274A>G (p.His425Arg)
n.1800A>G
c.1624A>G (p.Met542Val)
dbSNP gnomAD v2 gnomAD v4
4g.6301410A>TCA356176283WFS1c.1651A>T (p.Met551Leu)
c.1592A>T
c.1615A>T (p.Met539Leu)
c.1366A>T (p.Met456Leu)
c.1274A>T (p.His425Leu)
n.1800A>T
c.1624A>T (p.Met542Leu)
dbSNP

Number of alleles fetched