Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
4g.6301411T>ACA356176287WFS1c.1652T>A (p.Met551Lys)
c.1593T>A
c.1616T>A (p.Met539Lys)
c.1367T>A (p.Met456Lys)
c.1275T>A (p.His425Gln)
n.1801T>A
c.1625T>A (p.Met542Lys)
4g.6301411T>CCA356176288WFS1c.1652T>C (p.Met551Thr)
c.1593T>C
c.1616T>C (p.Met539Thr)
c.1367T>C (p.Met456Thr)
c.1275T>C (p.His425=)
n.1801T>C
c.1625T>C (p.Met542Thr)
4g.6301411T>GCA356176289WFS1c.1652T>G (p.Met551Arg)
c.1593T>G
c.1616T>G (p.Met539Arg)
c.1367T>G (p.Met456Arg)
c.1275T>G (p.His425Gln)
n.1801T>G
c.1625T>G (p.Met542Arg)
4g.6301412G>ACA356176290WFS1c.1653G>A (p.Met551Ile)
c.1594G>A
c.1617G>A (p.Met539Ile)
c.1368G>A (p.Met456Ile)
c.1276G>A (p.Val426Met)
n.1802G>A
c.1626G>A (p.Met542Ile)
gnomAD v4
4g.6301412G>CCA356176291WFS1c.1653G>C (p.Met551Ile)
c.1594G>C
c.1617G>C (p.Met539Ile)
c.1368G>C (p.Met456Ile)
c.1276G>C (p.Val426Leu)
n.1802G>C
c.1626G>C (p.Met542Ile)
dbSNP gnomAD v2 gnomAD v4
4g.6301412G=CA1435773503WFS1c.1653G= (p.Met551=)
c.1594G=
c.1617G= (p.Met539=)
c.1368G= (p.Met456=)
c.1276G= (p.Val426=)
n.1802G=
c.1626G= (p.Met542=)
4g.6301412G>TCA356176293WFS1c.1653G>T (p.Met551Ile)
c.1594G>T
c.1617G>T (p.Met539Ile)
c.1368G>T (p.Met456Ile)
c.1276G>T (p.Val426Leu)
n.1802G>T
c.1626G>T (p.Met542Ile)
4g.6301415_6301417delCA2578035820WFS1c.1656_1658del (p.Trp552del)
c.1597_1599del
c.1620_1622del (p.Trp540del)
c.1371_1373del (p.Trp457del)
c.1279_1281del (p.Val427del)
n.1805_1807del
c.1629_1631del (p.Trp543del)
gnomAD v4
4g.6301413T>ACA356176295WFS1c.1654T>A (p.Trp552Arg)
c.1595T>A
c.1618T>A (p.Trp540Arg)
c.1369T>A (p.Trp457Arg)
c.1277T>A (p.Val426Glu)
n.1803T>A
c.1627T>A (p.Trp543Arg)
4g.6301413T>CCA356176296WFS1c.1654T>C (p.Trp552Arg)
c.1595T>C
c.1618T>C (p.Trp540Arg)
c.1369T>C (p.Trp457Arg)
c.1277T>C (p.Val426Ala)
n.1803T>C
c.1627T>C (p.Trp543Arg)
4g.6301413T>GCA356176297WFS1c.1654T>G (p.Trp552Gly)
c.1595T>G
c.1618T>G (p.Trp540Gly)
c.1369T>G (p.Trp457Gly)
c.1277T>G (p.Val426Gly)
n.1803T>G
c.1627T>G (p.Trp543Gly)
4g.6301413T=CA1435773504WFS1c.1654T= (p.Trp552=)
c.1595T=
c.1618T= (p.Trp540=)
c.1369T= (p.Trp457=)
c.1277T= (p.Val426=)
n.1803T=
c.1627T= (p.Trp543=)
4g.6301414G>ACA356176298WFS1c.1655G>A (p.Trp552Ter)
c.1596G>A
c.1619G>A (p.Trp540Ter)
c.1370G>A (p.Trp457Ter)
c.1278G>A (p.Val426=)
n.1804G>A
c.1628G>A (p.Trp543Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301414G>CCA356176299WFS1c.1655G>C (p.Trp552Ser)
c.1596G>C
c.1619G>C (p.Trp540Ser)
c.1370G>C (p.Trp457Ser)
c.1278G>C (p.Val426=)
n.1804G>C
c.1628G>C (p.Trp543Ser)
4g.6301414G=CA1435773507WFS1c.1655G= (p.Trp552=)
c.1596G=
c.1619G= (p.Trp540=)
c.1370G= (p.Trp457=)
c.1278G= (p.Val426=)
n.1804G=
c.1628G= (p.Trp543=)
4g.6301414G>TCA356176300WFS1c.1655G>T (p.Trp552Leu)
c.1596G>T
c.1619G>T (p.Trp540Leu)
c.1370G>T (p.Trp457Leu)
c.1278G>T (p.Val426=)
n.1804G>T
c.1628G>T (p.Trp543Leu)
gnomAD v4
4g.6301414_6301437dupCA549707911WFS1c.1655_1678dup (p.Ile559_Leu560insArgCysGluLeuSerValValIle)
c.1596_1619dup
c.1619_1642dup (p.Ile547_Leu548insArgCysGluLeuSerValValIle)
c.1370_1393dup (p.Ile464_Leu465insArgCysGluLeuSerValValIle)
c.1278_1301dup (n.1278_1301dup)
n.1804_1827dup
c.1628_1651dup (p.Ile550_Leu551insArgCysGluLeuSerValValIle)
dbSNP gnomAD v2 gnomAD v4
4g.6301415G>ACA91796398WFS1c.1656G>A (p.Trp552Ter)
c.1597G>A
c.1620G>A (p.Trp540Ter)
c.1371G>A (p.Trp457Ter)
c.1279G>A (p.Val427Met)
n.1805G>A
c.1629G>A (p.Trp543Ter)
ClinVar dbSNP gnomAD v4
4g.6301415G>CCA356176304WFS1c.1656G>C (p.Trp552Cys)
c.1597G>C
c.1620G>C (p.Trp540Cys)
c.1371G>C (p.Trp457Cys)
c.1279G>C (p.Val427Leu)
n.1805G>C
c.1629G>C (p.Trp543Cys)
gnomAD v4
4g.6301415G=CA1435773515WFS1c.1656G= (p.Trp552=)
c.1597G=
c.1620G= (p.Trp540=)
c.1371G= (p.Trp457=)
c.1279G= (p.Val427=)
n.1805G=
c.1629G= (p.Trp543=)
4g.6301415G>TCA356176303WFS1c.1656G>T (p.Trp552Cys)
c.1597G>T
c.1620G>T (p.Trp540Cys)
c.1371G>T (p.Trp457Cys)
c.1279G>T (p.Val427Leu)
n.1805G>T
c.1629G>T (p.Trp543Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301418_6301419delCA2669843442WFS1c.1659_1660del (p.Cys553Ter)
c.1600_1601del
c.1623_1624del (p.Cys541Ter)
c.1374_1375del (p.Cys458Ter)
c.1282_1283del (p.Ter428SerextTer?)
n.1808_1809del
c.1632_1633del (p.Cys544Ter)
gnomAD v4
4g.6301416T>ACA356176306WFS1c.1657T>A (p.Cys553Ser)
c.1598T>A
c.1621T>A (p.Cys541Ser)
c.1372T>A (p.Cys458Ser)
c.1280T>A (p.Val427Glu)
n.1806T>A
c.1630T>A (p.Cys544Ser)
4g.6301416T>CCA356176309WFS1c.1657T>C (p.Cys553Arg)
c.1598T>C
c.1621T>C (p.Cys541Arg)
c.1372T>C (p.Cys458Arg)
c.1280T>C (p.Val427Ala)
n.1806T>C
c.1630T>C (p.Cys544Arg)
ClinVar dbSNP gnomAD v4
4g.6301416T>GCA356176310WFS1c.1657T>G (p.Cys553Gly)
c.1598T>G
c.1621T>G (p.Cys541Gly)
c.1372T>G (p.Cys458Gly)
c.1280T>G (p.Val427Gly)
n.1806T>G
c.1630T>G (p.Cys544Gly)
ClinVar
4g.6301417G>ACA356176311WFS1c.1658G>A (p.Cys553Tyr)
c.1599G>A
c.1622G>A (p.Cys541Tyr)
c.1373G>A (p.Cys458Tyr)
c.1281G>A (p.Val427=)
n.1807G>A
c.1631G>A (p.Cys544Tyr)
4g.6301417G>CCA356176312WFS1c.1658G>C (p.Cys553Ser)
c.1599G>C
c.1622G>C (p.Cys541Ser)
c.1373G>C (p.Cys458Ser)
c.1281G>C (p.Val427=)
n.1807G>C
c.1631G>C (p.Cys544Ser)
4g.6301417G>TCA356176313WFS1c.1658G>T (p.Cys553Phe)
c.1599G>T
c.1622G>T (p.Cys541Phe)
c.1373G>T (p.Cys458Phe)
c.1281G>T (p.Val427=)
n.1807G>T
c.1631G>T (p.Cys544Phe)
4g.6301418T>ACA356176315WFS1c.1659T>A (p.Cys553Ter)
c.1600T>A
c.1623T>A (p.Cys541Ter)
c.1374T>A (p.Cys458Ter)
c.1282T>A (p.Ter428Arg)
n.1808T>A
c.1632T>A (p.Cys544Ter)
4g.6301418T>CCA438368632WFS1c.1659T>C (p.Cys553=)
c.1600T>C
c.1623T>C (p.Cys541=)
c.1374T>C (p.Cys458=)
c.1282T>C (p.Ter428Arg)
n.1808T>C
c.1632T>C (p.Cys544=)
dbSNP gnomAD v2 gnomAD v4
4g.6301418T>GCA2839422WFS1c.1659T>G (p.Cys553Trp)
c.1600T>G
c.1623T>G (p.Cys541Trp)
c.1374T>G (p.Cys458Trp)
c.1282T>G (p.Ter428Gly)
n.1808T>G
c.1632T>G (p.Cys544Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301418T=CA1435773523WFS1c.1659T= (p.Cys553=)
c.1600T=
c.1623T= (p.Cys541=)
c.1374T= (p.Cys458=)
c.1282T= (p.Ter428=)
n.1808T=
c.1632T= (p.Cys544=)
4g.6301419G>ACA356176320WFS1c.1660G>A (p.Glu554Lys)
c.1601G>A
c.1624G>A (p.Glu542Lys)
c.1375G>A (p.Glu459Lys)
c.1283G>A (p.Ter428=)
n.1809G>A
c.1633G>A (p.Glu545Lys)
4g.6301419G>CCA356176323WFS1c.1660G>C (p.Glu554Gln)
c.1601G>C
c.1624G>C (p.Glu542Gln)
c.1375G>C (p.Glu459Gln)
c.1283G>C (p.Ter428Ser)
n.1809G>C
c.1633G>C (p.Glu545Gln)
4g.6301419G>TCA356176329WFS1c.1660G>T (p.Glu554Ter)
c.1601G>T
c.1624G>T (p.Glu542Ter)
c.1375G>T (p.Glu459Ter)
c.1283G>T (p.Ter428Leu)
n.1809G>T
c.1633G>T (p.Glu545Ter)
gnomAD v4
4g.6301420A>CCA356176336WFS1c.1661A>C (p.Glu554Ala)
c.1602A>C
c.1625A>C (p.Glu542Ala)
c.1376A>C (p.Glu459Ala)
c.1284A>C (p.Ter428Cys)
n.1810A>C
c.1634A>C (p.Glu545Ala)
4g.6301420A>GCA356176334WFS1c.1661A>G (p.Glu554Gly)
c.1602A>G
c.1625A>G (p.Glu542Gly)
c.1376A>G (p.Glu459Gly)
c.1284A>G (p.Ter428Trp)
n.1810A>G
c.1634A>G (p.Glu545Gly)
4g.6301420A>TCA356176332WFS1c.1661A>T (p.Glu554Val)
c.1602A>T
c.1625A>T (p.Glu542Val)
c.1376A>T (p.Glu459Val)
c.1284A>T (p.Ter428Cys)
n.1810A>T
c.1634A>T (p.Glu545Val)
4g.6301421G>ACA438368633WFS1c.1662G>A (p.Glu554=)
c.1603G>A
c.1626G>A (p.Glu542=)
c.1377G>A (p.Glu459=)
c.1285G>A (n.1285G>A)
n.1811G>A
c.1635G>A (p.Glu545=)
dbSNP gnomAD v2 gnomAD v4
4g.6301421G>CCA356176337WFS1c.1662G>C (p.Glu554Asp)
c.1603G>C
c.1626G>C (p.Glu542Asp)
c.1377G>C (p.Glu459Asp)
c.1285G>C (n.1285G>C)
n.1811G>C
c.1635G>C (p.Glu545Asp)
4g.6301421G=CA1435773528WFS1c.1662G= (p.Glu554=)
c.1603G=
c.1626G= (p.Glu542=)
c.1377G= (p.Glu459=)
c.1285G= (n.1285G=)
n.1811G=
c.1635G= (p.Glu545=)
4g.6301421G>TCA356176339WFS1c.1662G>T (p.Glu554Asp)
c.1603G>T
c.1626G>T (p.Glu542Asp)
c.1377G>T (p.Glu459Asp)
c.1285G>T (n.1285G>T)
n.1811G>T
c.1635G>T (p.Glu545Asp)
gnomAD v4
4g.6301422C>ACA356176340WFS1c.1663C>A (p.Leu555Ile)
c.1604C>A
c.1627C>A (p.Leu543Ile)
c.1378C>A (p.Leu460Ile)
c.1286C>A (n.1286C>A)
n.1812C>A
c.1636C>A (p.Leu546Ile)
4g.6301422C=CA1435773531WFS1c.1663C= (p.Leu555=)
c.1604C=
c.1627C= (p.Leu543=)
c.1378C= (p.Leu460=)
c.1286C= (n.1286C=)
n.1812C=
c.1636C= (p.Leu546=)
4g.6301422C>GCA356176341WFS1c.1663C>G (p.Leu555Val)
c.1604C>G
c.1627C>G (p.Leu543Val)
c.1378C>G (p.Leu460Val)
c.1286C>G (n.1286C>G)
n.1812C>G
c.1636C>G (p.Leu546Val)
gnomAD v4
4g.6301422C>TCA356176343WFS1c.1663C>T (p.Leu555Phe)
c.1604C>T
c.1627C>T (p.Leu543Phe)
c.1378C>T (p.Leu460Phe)
c.1286C>T (n.1286C>T)
n.1812C>T
c.1636C>T (p.Leu546Phe)
ClinVar dbSNP gnomAD v4
4g.6301423T>ACA356176345WFS1c.1664T>A (p.Leu555His)
c.1605T>A
c.1628T>A (p.Leu543His)
c.1379T>A (p.Leu460His)
c.1287T>A (n.1287T>A)
n.1813T>A
c.1637T>A (p.Leu546His)
4g.6301423T>CCA356176347WFS1c.1664T>C (p.Leu555Pro)
c.1605T>C
c.1628T>C (p.Leu543Pro)
c.1379T>C (p.Leu460Pro)
c.1287T>C (n.1287T>C)
n.1813T>C
c.1637T>C (p.Leu546Pro)
ClinVar
4g.6301423T>GCA356176348WFS1c.1664T>G (p.Leu555Arg)
c.1605T>G
c.1628T>G (p.Leu543Arg)
c.1379T>G (p.Leu460Arg)
c.1287T>G (n.1287T>G)
n.1813T>G
c.1637T>G (p.Leu546Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301423T=CA1435773532WFS1c.1664T= (p.Leu555=)
c.1605T=
c.1628T= (p.Leu543=)
c.1379T= (p.Leu460=)
c.1287T= (n.1287T=)
n.1813T=
c.1637T= (p.Leu546=)
4g.6301424C>ACA438368636WFS1c.1665C>A (p.Leu555=)
c.1606C>A
c.1629C>A (p.Leu543=)
c.1380C>A (p.Leu460=)
c.1288C>A (n.1288C>A)
n.1814C>A
c.1638C>A (p.Leu546=)
4g.6301424C=CA1435773535WFS1c.1665C= (p.Leu555=)
c.1606C=
c.1629C= (p.Leu543=)
c.1380C= (p.Leu460=)
c.1288C= (n.1288C=)
n.1814C=
c.1638C= (p.Leu546=)
4g.6301424C>GCA438368637WFS1c.1665C>G (p.Leu555=)
c.1606C>G
c.1629C>G (p.Leu543=)
c.1380C>G (p.Leu460=)
c.1288C>G (n.1288C>G)
n.1814C>G
c.1638C>G (p.Leu546=)
gnomAD v4
4g.6301424C>TCA2839423WFS1c.1665C>T (p.Leu555=)
c.1606C>T
c.1629C>T (p.Leu543=)
c.1380C>T (p.Leu460=)
c.1288C>T (n.1288C>T)
n.1814C>T
c.1638C>T (p.Leu546=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301425T>ACA91796405WFS1c.1666T>A (p.Ser556Thr)
c.1607T>A
c.1630T>A (p.Ser544Thr)
c.1381T>A (p.Ser461Thr)
c.1289T>A (n.1289T>A)
n.1815T>A
c.1639T>A (p.Ser547Thr)
ClinVar dbSNP gnomAD v4
4g.6301425T>CCA356176350WFS1c.1666T>C (p.Ser556Pro)
c.1607T>C
c.1630T>C (p.Ser544Pro)
c.1381T>C (p.Ser461Pro)
c.1289T>C (n.1289T>C)
n.1815T>C
c.1639T>C (p.Ser547Pro)
dbSNP gnomAD v2 gnomAD v4
4g.6301425T>GCA356176351WFS1c.1666T>G (p.Ser556Ala)
c.1607T>G
c.1630T>G (p.Ser544Ala)
c.1381T>G (p.Ser461Ala)
c.1289T>G (n.1289T>G)
n.1815T>G
c.1639T>G (p.Ser547Ala)
dbSNP gnomAD v2 gnomAD v4
4g.6301425T=CA1435773539WFS1c.1666T= (p.Ser556=)
c.1607T=
c.1630T= (p.Ser544=)
c.1381T= (p.Ser461=)
c.1289T= (n.1289T=)
n.1815T=
c.1639T= (p.Ser547=)
4g.6301426C>ACA356176353WFS1c.1667C>A (p.Ser556Tyr)
c.1608C>A
c.1631C>A (p.Ser544Tyr)
c.1382C>A (p.Ser461Tyr)
c.1290C>A (n.1290C>A)
n.1816C>A
c.1640C>A (p.Ser547Tyr)
4g.6301426C=CA1435773544WFS1c.1667C= (p.Ser556=)
c.1608C=
c.1631C= (p.Ser544=)
c.1382C= (p.Ser461=)
c.1290C= (n.1290C=)
n.1816C=
c.1640C= (p.Ser547=)
4g.6301426C>GCA91796407WFS1c.1667C>G (p.Ser556Cys)
c.1608C>G
c.1631C>G (p.Ser544Cys)
c.1382C>G (p.Ser461Cys)
c.1290C>G (n.1290C>G)
n.1816C>G
c.1640C>G (p.Ser547Cys)
dbSNP gnomAD v3 gnomAD v4
4g.6301426C>TCA2839424WFS1c.1667C>T (p.Ser556Phe)
c.1608C>T
c.1631C>T (p.Ser544Phe)
c.1382C>T (p.Ser461Phe)
c.1290C>T (n.1290C>T)
n.1816C>T
c.1640C>T (p.Ser547Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301427C>ACA438368638WFS1c.1668C>A (p.Ser556=)
c.1609C>A
c.1632C>A (p.Ser544=)
c.1383C>A (p.Ser461=)
c.1291C>A (n.1291C>A)
n.1817C>A
c.1641C>A (p.Ser547=)
gnomAD v4
4g.6301427C=CA1435773548WFS1c.1668C= (p.Ser556=)
c.1609C=
c.1632C= (p.Ser544=)
c.1383C= (p.Ser461=)
c.1291C= (n.1291C=)
n.1817C=
c.1641C= (p.Ser547=)
4g.6301427C>GCA438368639WFS1c.1668C>G (p.Ser556=)
c.1609C>G
c.1632C>G (p.Ser544=)
c.1383C>G (p.Ser461=)
c.1291C>G (n.1291C>G)
n.1817C>G
c.1641C>G (p.Ser547=)
4g.6301427C>TCA182622WFS1c.1668C>T (p.Ser556=)
c.1609C>T
c.1632C>T (p.Ser544=)
c.1383C>T (p.Ser461=)
c.1291C>T (n.1291C>T)
n.1817C>T
c.1641C>T (p.Ser547=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301428G>ACA320502WFS1c.1669G>A (p.Val557Met)
c.1610G>A
c.1633G>A (p.Val545Met)
c.1384G>A (p.Val462Met)
c.1292G>A (n.1292G>A)
n.1818G>A
c.1642G>A (p.Val548Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301428G>CCA356176356WFS1c.1669G>C (p.Val557Leu)
c.1610G>C
c.1633G>C (p.Val545Leu)
c.1384G>C (p.Val462Leu)
c.1292G>C (n.1292G>C)
n.1818G>C
c.1642G>C (p.Val548Leu)
ClinVar dbSNP
4g.6301428G=CA1435773557WFS1c.1669G= (p.Val557=)
c.1610G=
c.1633G= (p.Val545=)
c.1384G= (p.Val462=)
c.1292G= (n.1292G=)
n.1818G=
c.1642G= (p.Val548=)
4g.6301428G>TCA356176357WFS1c.1669G>T (p.Val557Leu)
c.1610G>T
c.1633G>T (p.Val545Leu)
c.1384G>T (p.Val462Leu)
c.1292G>T (n.1292G>T)
n.1818G>T
c.1642G>T (p.Val548Leu)
ClinVar dbSNP gnomAD v4
4g.6301429T>ACA356176359WFS1c.1670T>A (p.Val557Glu)
c.1611T>A
c.1634T>A (p.Val545Glu)
c.1385T>A (p.Val462Glu)
c.1293T>A (n.1293T>A)
n.1819T>A
c.1643T>A (p.Val548Glu)
4g.6301429T>CCA356176361WFS1c.1670T>C (p.Val557Ala)
c.1611T>C
c.1634T>C (p.Val545Ala)
c.1385T>C (p.Val462Ala)
c.1293T>C (n.1293T>C)
n.1819T>C
c.1643T>C (p.Val548Ala)
4g.6301429T>GCA356176363WFS1c.1670T>G (p.Val557Gly)
c.1611T>G
c.1634T>G (p.Val545Gly)
c.1385T>G (p.Val462Gly)
c.1293T>G (n.1293T>G)
n.1819T>G
c.1643T>G (p.Val548Gly)
4g.6301430G>ACA438368645WFS1c.1671G>A (p.Val557=)
c.1612G>A
c.1635G>A (p.Val545=)
c.1386G>A (p.Val462=)
c.1294G>A (n.1294G>A)
n.1820G>A
c.1644G>A (p.Val548=)
gnomAD v4
4g.6301430G>CCA438368644WFS1c.1671G>C (p.Val557=)
c.1612G>C
c.1635G>C (p.Val545=)
c.1386G>C (p.Val462=)
c.1294G>C (n.1294G>C)
n.1820G>C
c.1644G>C (p.Val548=)
4g.6301430G>TCA438368643WFS1c.1671G>T (p.Val557=)
c.1612G>T
c.1635G>T (p.Val545=)
c.1386G>T (p.Val462=)
c.1294G>T (n.1294G>T)
n.1820G>T
c.1644G>T (p.Val548=)
gnomAD v4
4g.6301431delCA2578035821WFS1c.1672del (p.Val558SerfsTer?)
c.1613del
c.1636del (p.Val546SerfsTer?)
c.1387del (p.Val463SerfsTer?)
c.1295del (n.1295del)
n.1821del
c.1645del (p.Val549SerfsTer?)
4g.6301431G>ACA356176365WFS1c.1672G>A (p.Val558Ile)
c.1613G>A
c.1636G>A (p.Val546Ile)
c.1387G>A (p.Val463Ile)
c.1295G>A (n.1295G>A)
n.1821G>A
c.1645G>A (p.Val549Ile)
ClinVar
4g.6301431G>CCA2839425WFS1c.1672G>C (p.Val558Leu)
c.1613G>C
c.1636G>C (p.Val546Leu)
c.1387G>C (p.Val463Leu)
c.1295G>C (n.1295G>C)
n.1821G>C
c.1645G>C (p.Val549Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301431G=CA1435773561WFS1c.1672G= (p.Val558=)
c.1613G=
c.1636G= (p.Val546=)
c.1387G= (p.Val463=)
c.1295G= (n.1295G=)
n.1821G=
c.1645G= (p.Val549=)
4g.6301431G>TCA356176368WFS1c.1672G>T (p.Val558Phe)
c.1613G>T
c.1636G>T (p.Val546Phe)
c.1387G>T (p.Val463Phe)
c.1295G>T (n.1295G>T)
n.1821G>T
c.1645G>T (p.Val549Phe)
4g.6301432T>ACA356176370WFS1c.1673T>A (p.Val558Asp)
c.1614T>A
c.1637T>A (p.Val546Asp)
c.1388T>A (p.Val463Asp)
c.1296T>A (n.1296T>A)
n.1822T>A
c.1646T>A (p.Val549Asp)
4g.6301432T>CCA356176372WFS1c.1673T>C (p.Val558Ala)
c.1614T>C
c.1637T>C (p.Val546Ala)
c.1388T>C (p.Val463Ala)
c.1296T>C (n.1296T>C)
n.1822T>C
c.1646T>C (p.Val549Ala)
dbSNP gnomAD v2 gnomAD v4
4g.6301432T>GCA356176373WFS1c.1673T>G (p.Val558Gly)
c.1614T>G
c.1637T>G (p.Val546Gly)
c.1388T>G (p.Val463Gly)
c.1296T>G (n.1296T>G)
n.1822T>G
c.1646T>G (p.Val549Gly)
ClinVar gnomAD v4
4g.6301432T=CA1435773564WFS1c.1673T= (p.Val558=)
c.1614T=
c.1637T= (p.Val546=)
c.1388T= (p.Val463=)
c.1296T= (n.1296T=)
n.1822T=
c.1646T= (p.Val549=)
4g.6301433C>ACA438368826WFS1c.1674C>A (p.Val558=)
c.1615C>A
c.1638C>A (p.Val546=)
c.1389C>A (p.Val463=)
c.1297C>A (n.1297C>A)
n.1823C>A
c.1647C>A (p.Val549=)
gnomAD v4
4g.6301433C>GCA438368827WFS1c.1674C>G (p.Val558=)
c.1615C>G
c.1638C>G (p.Val546=)
c.1389C>G (p.Val463=)
c.1297C>G (n.1297C>G)
n.1823C>G
c.1647C>G (p.Val549=)
gnomAD v4
4g.6301433C>TCA438368829WFS1c.1674C>T (p.Val558=)
c.1615C>T
c.1638C>T (p.Val546=)
c.1389C>T (p.Val463=)
c.1297C>T (n.1297C>T)
n.1823C>T
c.1647C>T (p.Val549=)
4g.6301434A=CA1435773569WFS1c.1675A= (p.Ile559=)
c.1616A=
c.1639A= (p.Ile547=)
c.1390A= (p.Ile464=)
c.1298A= (n.1298A=)
n.1824A=
c.1648A= (p.Ile550=)
4g.6301434A>CCA356176378WFS1c.1675A>C (p.Ile559Leu)
c.1616A>C
c.1639A>C (p.Ile547Leu)
c.1390A>C (p.Ile464Leu)
c.1298A>C (n.1298A>C)
n.1824A>C
c.1648A>C (p.Ile550Leu)
dbSNP gnomAD v2 gnomAD v4
4g.6301434A>GCA356176376WFS1c.1675A>G (p.Ile559Val)
c.1616A>G
c.1639A>G (p.Ile547Val)
c.1390A>G (p.Ile464Val)
c.1298A>G (n.1298A>G)
n.1824A>G
c.1648A>G (p.Ile550Val)
4g.6301434A>TCA356176375WFS1c.1675A>T (p.Ile559Phe)
c.1616A>T
c.1639A>T (p.Ile547Phe)
c.1390A>T (p.Ile464Phe)
c.1298A>T (n.1298A>T)
n.1824A>T
c.1648A>T (p.Ile550Phe)
gnomAD v4
4g.6301435T>ACA356176379WFS1c.1676T>A (p.Ile559Asn)
c.1617T>A
c.1640T>A (p.Ile547Asn)
c.1391T>A (p.Ile464Asn)
c.1299T>A (n.1299T>A)
n.1825T>A
c.1649T>A (p.Ile550Asn)
4g.6301435T>CCA356176380WFS1c.1676T>C (p.Ile559Thr)
c.1617T>C
c.1640T>C (p.Ile547Thr)
c.1391T>C (p.Ile464Thr)
c.1299T>C (n.1299T>C)
n.1825T>C
c.1649T>C (p.Ile550Thr)
4g.6301435T>GCA356176382WFS1c.1676T>G (p.Ile559Ser)
c.1617T>G
c.1640T>G (p.Ile547Ser)
c.1391T>G (p.Ile464Ser)
c.1299T>G (n.1299T>G)
n.1825T>G
c.1649T>G (p.Ile550Ser)
4g.6301436C>ACA438368834WFS1c.1677C>A (p.Ile559=)
c.1618C>A
c.1641C>A (p.Ile547=)
c.1392C>A (p.Ile464=)
c.1300C>A (n.1300C>A)
n.1826C>A
c.1650C>A (p.Ile550=)
gnomAD v4
4g.6301436C>GCA356176383WFS1c.1677C>G (p.Ile559Met)
c.1618C>G
c.1641C>G (p.Ile547Met)
c.1392C>G (p.Ile464Met)
c.1300C>G (n.1300C>G)
n.1826C>G
c.1650C>G (p.Ile550Met)
4g.6301436C>TCA438368835WFS1c.1677C>T (p.Ile559=)
c.1618C>T
c.1641C>T (p.Ile547=)
c.1392C>T (p.Ile464=)
c.1300C>T (n.1300C>T)
n.1826C>T
c.1650C>T (p.Ile550=)
4g.6301437C>ACA2839426WFS1c.1678C>A (p.Leu560Met)
c.1619C>A
c.1642C>A (p.Leu548Met)
c.1393C>A (p.Leu465Met)
c.1301C>A (n.1301C>A)
n.1827C>A
c.1651C>A (p.Leu551Met)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301437C=CA1435773574WFS1c.1678C= (p.Leu560=)
c.1619C=
c.1642C= (p.Leu548=)
c.1393C= (p.Leu465=)
c.1301C= (n.1301C=)
n.1827C=
c.1651C= (p.Leu551=)
4g.6301437C>GCA356176385WFS1c.1678C>G (p.Leu560Val)
c.1619C>G
c.1642C>G (p.Leu548Val)
c.1393C>G (p.Leu465Val)
c.1301C>G (n.1301C>G)
n.1827C>G
c.1651C>G (p.Leu551Val)
4g.6301437C>TCA438368842WFS1c.1678C>T (p.Leu560=)
c.1619C>T
c.1642C>T (p.Leu548=)
c.1393C>T (p.Leu465=)
c.1301C>T (n.1301C>T)
n.1827C>T
c.1651C>T (p.Leu551=)
dbSNP gnomAD v4
4g.6301438T>ACA356176387WFS1c.1679T>A (p.Leu560Gln)
c.1620T>A
c.1643T>A (p.Leu548Gln)
c.1394T>A (p.Leu465Gln)
c.1302T>A (n.1302T>A)
n.1828T>A
c.1652T>A (p.Leu551Gln)
4g.6301438T>CCA356176389WFS1c.1679T>C (p.Leu560Pro)
c.1620T>C
c.1643T>C (p.Leu548Pro)
c.1394T>C (p.Leu465Pro)
c.1302T>C (n.1302T>C)
n.1828T>C
c.1652T>C (p.Leu551Pro)
4g.6301438T>GCA356176390WFS1c.1679T>G (p.Leu560Arg)
c.1620T>G
c.1643T>G (p.Leu548Arg)
c.1394T>G (p.Leu465Arg)
c.1302T>G (n.1302T>G)
n.1828T>G
c.1652T>G (p.Leu551Arg)
4g.6301439G>ACA2839427WFS1c.1680G>A (p.Leu560=)
c.1621G>A
c.1644G>A (p.Leu548=)
c.1395G>A (p.Leu465=)
c.1303G>A (n.1303G>A)
n.1829G>A
c.1653G>A (p.Leu551=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301439G>CCA91796418WFS1c.1680G>C (p.Leu560=)
c.1621G>C
c.1644G>C (p.Leu548=)
c.1395G>C (p.Leu465=)
c.1303G>C (n.1303G>C)
n.1829G>C
c.1653G>C (p.Leu551=)
ClinVar dbSNP gnomAD v4
4g.6301439G=CA1435773579WFS1c.1680G= (p.Leu560=)
c.1621G=
c.1644G= (p.Leu548=)
c.1395G= (p.Leu465=)
c.1303G= (n.1303G=)
n.1829G=
c.1653G= (p.Leu551=)
4g.6301439G>TCA438368849WFS1c.1680G>T (p.Leu560=)
c.1621G>T
c.1644G>T (p.Leu548=)
c.1395G>T (p.Leu465=)
c.1303G>T (n.1303G>T)
n.1829G>T
c.1653G>T (p.Leu551=)
4g.6301440C>ACA356176393WFS1c.1681C>A (p.Leu561Met)
c.1622C>A
c.1645C>A (p.Leu549Met)
c.1396C>A (p.Leu466Met)
c.1304C>A (n.1304C>A)
n.1830C>A
c.1654C>A (p.Leu552Met)
ClinVar dbSNP gnomAD v4
4g.6301440C=CA1435773580WFS1c.1681C= (p.Leu561=)
c.1622C=
c.1645C= (p.Leu549=)
c.1396C= (p.Leu466=)
c.1304C= (n.1304C=)
n.1830C=
c.1654C= (p.Leu552=)
4g.6301440C>GCA185322WFS1c.1681C>G (p.Leu561Val)
c.1622C>G
c.1645C>G (p.Leu549Val)
c.1396C>G (p.Leu466Val)
c.1304C>G (n.1304C>G)
n.1830C>G
c.1654C>G (p.Leu552Val)
ClinVar dbSNP gnomAD v4
4g.6301440C>TCA91796422WFS1c.1681C>T (p.Leu561=)
c.1622C>T
c.1645C>T (p.Leu549=)
c.1396C>T (p.Leu466=)
c.1304C>T (n.1304C>T)
n.1830C>T
c.1654C>T (p.Leu552=)
dbSNP gnomAD v3 gnomAD v4
4g.6301441T>ACA356176396WFS1c.1682T>A (p.Leu561Gln)
c.1623T>A
c.1646T>A (p.Leu549Gln)
c.1397T>A (p.Leu466Gln)
c.1305T>A (n.1305T>A)
n.1831T>A
c.1655T>A (p.Leu552Gln)
4g.6301441T>CCA2839428WFS1c.1682T>C (p.Leu561Pro)
c.1623T>C
c.1646T>C (p.Leu549Pro)
c.1397T>C (p.Leu466Pro)
c.1305T>C (n.1305T>C)
n.1831T>C
c.1655T>C (p.Leu552Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301441T>GCA356176394WFS1c.1682T>G (p.Leu561Arg)
c.1623T>G
c.1646T>G (p.Leu549Arg)
c.1397T>G (p.Leu466Arg)
c.1305T>G (n.1305T>G)
n.1831T>G
c.1655T>G (p.Leu552Arg)
4g.6301441T=CA1435773581WFS1c.1682T= (p.Leu561=)
c.1623T=
c.1646T= (p.Leu549=)
c.1397T= (p.Leu466=)
c.1305T= (n.1305T=)
n.1831T=
c.1655T= (p.Leu552=)
4g.6301442G>ACA438368857WFS1c.1683G>A (p.Leu561=)
c.1624G>A
c.1647G>A (p.Leu549=)
c.1398G>A (p.Leu466=)
c.1306G>A (n.1306G>A)
n.1832G>A
c.1656G>A (p.Leu552=)
dbSNP gnomAD v4
4g.6301442G>CCA438368858WFS1c.1683G>C (p.Leu561=)
c.1624G>C
c.1647G>C (p.Leu549=)
c.1398G>C (p.Leu466=)
c.1306G>C (n.1306G>C)
n.1832G>C
c.1656G>C (p.Leu552=)
4g.6301442G=CA1435773582WFS1c.1683G= (p.Leu561=)
c.1624G=
c.1647G= (p.Leu549=)
c.1398G= (p.Leu466=)
c.1306G= (n.1306G=)
n.1832G=
c.1656G= (p.Leu552=)
4g.6301442G>TCA438368860WFS1c.1683G>T (p.Leu561=)
c.1624G>T
c.1647G>T (p.Leu549=)
c.1398G>T (p.Leu466=)
c.1306G>T (n.1306G>T)
n.1832G>T
c.1656G>T (p.Leu552=)
4g.6301443G>ACA356176400WFS1c.1684G>A (p.Glu562Lys)
c.1625G>A
c.1648G>A (p.Glu550Lys)
c.1399G>A (p.Glu467Lys)
c.1307G>A (n.1307G>A)
n.1833G>A
c.1657G>A (p.Glu553Lys)
4g.6301443G>CCA356176401WFS1c.1684G>C (p.Glu562Gln)
c.1625G>C
c.1648G>C (p.Glu550Gln)
c.1399G>C (p.Glu467Gln)
c.1307G>C (n.1307G>C)
n.1833G>C
c.1657G>C (p.Glu553Gln)
4g.6301443G>TCA356176403WFS1c.1684G>T (p.Glu562Ter)
c.1625G>T
c.1648G>T (p.Glu550Ter)
c.1399G>T (p.Glu467Ter)
c.1307G>T (n.1307G>T)
n.1833G>T
c.1657G>T (p.Glu553Ter)
gnomAD v4

Number of alleles fetched