Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6301348T>A | CA2839402 | WFS1 | c.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 |
4 | g.6301348T>C | CA356175926 | WFS1 | c.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) | |
4 | g.6301348T>G | CA356175928 | WFS1 | c.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) | |
4 | g.6301348T= | CA1435773309 | WFS1 | c.1589T= (p.Met530=) c.1530T= c.1553T= (p.Met518=) c.1304T= (p.Met435=) c.1212T= (p.His404=) n.1738T= c.1562T= (p.Met521=) | |
4 | g.6301349G>A | CA324553 | WFS1 | c.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 |
4 | g.6301349G>C | CA91796350 | WFS1 | c.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 |
4 | g.6301349G= | CA1435773313 | WFS1 | c.1590G= (p.Met530=) c.1531G= c.1554G= (p.Met518=) c.1305G= (p.Met435=) c.1213G= (p.Gly405=) n.1739G= c.1563G= (p.Met521=) | |
4 | g.6301349G>T | CA356175931 | WFS1 | c.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) | |
4 | g.6301350G>A | CA91796353 | WFS1 | c.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 |
4 | g.6301350G>C | CA356175936 | WFS1 | c.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) | |
4 | g.6301350G= | CA1435773319 | WFS1 | c.1591G= (p.Ala531=) c.1532G= c.1555G= (p.Ala519=) c.1306G= (p.Ala436=) c.1214G= (p.Gly405=) n.1740G= c.1564G= (p.Ala522=) | |
4 | g.6301350G>T | CA356175939 | WFS1 | c.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) | |
4 | g.6301351C>A | CA356175945 | WFS1 | c.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) | |
4 | g.6301351C= | CA1435773322 | WFS1 | c.1592C= (p.Ala531=) c.1533C= c.1556C= (p.Ala519=) c.1307C= (p.Ala436=) c.1215C= (p.Gly405=) n.1741C= c.1565C= (p.Ala522=) | |
4 | g.6301351C>G | CA356175943 | WFS1 | c.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) | |
4 | g.6301351C>T | CA295574 | WFS1 | c.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 |
4 | g.6301352A>C | CA438368550 | WFS1 | c.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=) | |
4 | g.6301352A>G | CA438368551 | WFS1 | c.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 |
4 | g.6301352A>T | CA438368552 | WFS1 | c.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=) | |
4 | g.6301353C>A | CA356175947 | WFS1 | c.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) | |
4 | g.6301353C= | CA1435773327 | WFS1 | c.1594C= (p.Gln532=) c.1535C= c.1558C= (p.Gln520=) c.1309C= (p.Gln437=) c.1217C= (p.Thr406=) n.1743C= c.1567C= (p.Gln523=) | |
4 | g.6301353C>G | CA2839403 | WFS1 | c.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 |
4 | g.6301353C>T | CA356175948 | WFS1 | c.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 |
4 | g.6301354A>C | CA356175953 | WFS1 | c.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 |
4 | g.6301354A>G | CA356175955 | WFS1 | c.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) | |
4 | g.6301354A>T | CA356175954 | WFS1 | c.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) | |
4 | g.6301355G>A | CA2839404 | WFS1 | c.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 |
4 | g.6301355G>C | CA356175962 | WFS1 | c.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 |
4 | g.6301355G= | CA1435773334 | WFS1 | c.1596G= (p.Gln532=) c.1537G= c.1560G= (p.Gln520=) c.1311G= (p.Gln437=) c.1219G= (p.Ala407=) n.1745G= c.1569G= (p.Gln523=) | |
4 | g.6301355G>T | CA356175959 | WFS1 | c.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) | |
4 | g.6301356C>A | CA356175965 | WFS1 | c.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) | |
4 | g.6301356C= | CA1435773341 | WFS1 | c.1597C= (p.Leu533=) c.1538C= c.1561C= (p.Leu521=) c.1312C= (p.Leu438=) c.1220C= (p.Ala407=) n.1746C= c.1570C= (p.Leu524=) | |
4 | g.6301356C>G | CA2839405 | WFS1 | c.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 |
4 | g.6301356C>T | CA438368566 | WFS1 | c.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=) | |
4 | g.6301357T>A | CA356175969 | WFS1 | c.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) | |
4 | g.6301357T>C | CA356175973 | WFS1 | c.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) | |
4 | g.6301357T>G | CA356175975 | WFS1 | c.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 |
4 | g.6301358G>A | CA438368573 | WFS1 | c.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 |
4 | g.6301358G>C | CA438368575 | WFS1 | c.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=) | |
4 | g.6301358G= | CA1435773343 | WFS1 | c.1599G= (p.Leu533=) c.1540G= c.1563G= (p.Leu521=) c.1314G= (p.Leu438=) c.1222G= (p.Glu408=) n.1748G= c.1572G= (p.Leu524=) | |
4 | g.6301358G>T | CA438368577 | WFS1 | c.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=) | |
4 | g.6301359A>C | CA438368578 | WFS1 | c.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=) | |
4 | g.6301359A>G | CA356175979 | WFS1 | c.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) | |
4 | g.6301359A>T | CA356175981 | WFS1 | c.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) | |
4 | g.6301360G>A | CA356175983 | WFS1 | c.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 |
4 | g.6301360G>C | CA356175987 | WFS1 | c.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 |
4 | g.6301360G>T | CA356175989 | WFS1 | c.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 |
4 | g.6301361G>A | CA438368583 | WFS1 | c.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 |
4 | g.6301361G>C | CA356175992 | WFS1 | c.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) | |
4 | g.6301361G= | CA1435773345 | WFS1 | c.1602G= (p.Arg534=) c.1543G= c.1566G= (p.Arg522=) c.1317G= (p.Arg439=) c.1225G= (p.Glu409=) n.1751G= c.1575G= (p.Arg525=) | |
4 | g.6301361G>T | CA356175993 | WFS1 | c.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 |
4 | g.6301362A= | CA1435773347 | WFS1 | c.1603A= (p.Asn535=) c.1544A= c.1567A= (p.Asn523=) c.1318A= (p.Asn440=) c.1226A= (p.Glu409=) n.1752A= c.1576A= (p.Asn526=) | |
4 | g.6301362A>C | CA356175999 | WFS1 | c.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) | |
4 | g.6301362A>G | CA356175996 | WFS1 | c.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 |
4 | g.6301362A>T | CA356175998 | WFS1 | c.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) | |
4 | g.6301363A>C | CA356176000 | WFS1 | c.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) | |
4 | g.6301363A>G | CA356176002 | WFS1 | c.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 |
4 | g.6301363A>T | CA356176005 | WFS1 | c.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) | |
4 | g.6301364T>A | CA356176007 | WFS1 | c.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 |
4 | g.6301364T>C | CA438368588 | WFS1 | c.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=) | |
4 | g.6301364T>G | CA356176009 | WFS1 | c.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 |
4 | g.6301364T= | CA1435773350 | WFS1 | c.1605T= (p.Asn535=) c.1546T= c.1569T= (p.Asn523=) c.1320T= (p.Asn440=) c.1228T= (p.Phe410=) n.1754T= c.1578T= (p.Asn526=) | |
4 | g.6301365T>A | CA356176019 | WFS1 | c.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) | |
4 | g.6301365T>C | CA356176020 | WFS1 | c.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) | |
4 | g.6301365T>G | CA356176022 | WFS1 | c.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) | |
4 | g.6301366T>A | CA356176023 | WFS1 | c.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) | |
4 | g.6301366T>C | CA356176025 | WFS1 | c.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) | |
4 | g.6301366T>G | CA356176026 | WFS1 | c.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 |
4 | g.6301367C>A | CA356176028 | WFS1 | c.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) | |
4 | g.6301367C= | CA1435773353 | WFS1 | c.1608C= (p.Phe536=) c.1549C= c.1572C= (p.Phe524=) c.1323C= (p.Phe441=) c.1231C= (p.Gln411=) n.1757C= c.1581C= (p.Phe527=) | |
4 | g.6301367C>G | CA356176030 | WFS1 | c.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 |
4 | g.6301367C>T | CA438368589 | WFS1 | c.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 |
4 | g.6301368A>C | CA356176032 | WFS1 | c.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) | |
4 | g.6301368A>G | CA356176034 | WFS1 | c.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) | |
4 | g.6301368A>T | CA356176037 | WFS1 | c.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) | |
4 | g.6301369A>C | CA356176040 | WFS1 | c.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) | |
4 | g.6301369A>G | CA356176041 | WFS1 | c.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 |
4 | g.6301369A>T | CA356176043 | WFS1 | c.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) | |
4 | g.6301370G>A | CA438368593 | WFS1 | c.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=) | |
4 | g.6301370G>C | CA356176045 | WFS1 | c.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) | |
4 | g.6301370G>T | CA356176046 | WFS1 | c.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) | |
4 | g.6301371G>A | CA356176047 | WFS1 | c.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 |
4 | g.6301371G>C | CA356176048 | WFS1 | c.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) | |
4 | g.6301371G>T | CA356176049 | WFS1 | c.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) | |
4 | g.6301371_6301372delinsTT | CA645523668 | WFS1 | c.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 |
4 | g.6301372G>A | CA2839406 | WFS1 | c.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 |
4 | g.6301372G>C | CA356176051 | WFS1 | c.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) | |
4 | g.6301372G= | CA1435773385 | WFS1 | c.1613G= (p.Gly538=) c.1554G= c.1577G= (p.Gly526=) c.1328G= (p.Gly443=) c.1236G= (p.Gly412=) n.1762G= c.1586G= (p.Gly529=) | |
4 | g.6301372G>T | CA356176050 | WFS1 | c.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 |
4 | g.6301373C>A | CA438368596 | WFS1 | c.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 |
4 | g.6301373C= | CA1435773390 | WFS1 | c.1614C= (p.Gly538=) c.1555C= c.1578C= (p.Gly526=) c.1329C= (p.Gly443=) c.1237C= (p.His413=) n.1763C= c.1587C= (p.Gly529=) | |
4 | g.6301373C>G | CA438368597 | WFS1 | c.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=) | |
4 | g.6301373C>T | CA2839407 | WFS1 | c.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 |
4 | g.6301374A>C | CA356176053 | WFS1 | c.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 |
4 | g.6301374A>G | CA356176056 | WFS1 | c.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) | |
4 | g.6301374A>T | CA356176059 | WFS1 | c.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) | |
4 | g.6301375C>A | CA356176071 | WFS1 | c.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) | |
4 | g.6301375C= | CA1435773393 | WFS1 | c.1616C= (p.Thr539=) c.1557C= c.1580C= (p.Thr527=) c.1331C= (p.Thr444=) c.1239C= (p.His413=) n.1765C= c.1589C= (p.Thr530=) | |
4 | g.6301375C>G | CA356176074 | WFS1 | c.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 |
4 | g.6301375C>T | CA2839408 | WFS1 | c.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 |
4 | g.6301376dup | CA2586973629 | WFS1 | c.1617dup (p.Tyr540LeufsTer15) c.1558dup c.1581dup (p.Tyr528LeufsTer15) c.1332dup (p.Tyr445LeufsTer15) c.1240dup (p.Leu414ProfsTer?) n.1766dup c.1590dup (p.Tyr531LeufsTer15) | |
4 | g.6301376C>A | CA438368602 | WFS1 | c.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=) | |
4 | g.6301376C= | CA1435773399 | WFS1 | c.1617C= (p.Thr539=) c.1558C= c.1581C= (p.Thr527=) c.1332C= (p.Thr444=) c.1240C= (p.Leu414=) n.1766C= c.1590C= (p.Thr530=) | |
4 | g.6301376C>G | CA2839409 | WFS1 | c.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 |
4 | g.6301376C>T | CA2839410 | WFS1 | c.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 |
4 | g.6301377T>A | CA356176095 | WFS1 | c.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) | |
4 | g.6301377T>C | CA2839411 | WFS1 | c.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 |
4 | g.6301377T>G | CA356176098 | WFS1 | c.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 |
4 | g.6301377T= | CA1435773403 | WFS1 | c.1618T= (p.Tyr540=) c.1559T= c.1582T= (p.Tyr528=) c.1333T= (p.Tyr445=) c.1241T= (p.Leu414=) n.1767T= c.1591T= (p.Tyr531=) | |
4 | g.6301378A= | CA1435773407 | WFS1 | c.1619A= (p.Tyr540=) c.1560A= c.1583A= (p.Tyr528=) c.1334A= (p.Tyr445=) c.1242A= (p.Leu414=) n.1768A= c.1592A= (p.Tyr531=) | |
4 | g.6301378A>C | CA356176109 | WFS1 | c.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 |
4 | g.6301378A>G | CA356176108 | WFS1 | c.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 |
4 | g.6301378A>T | CA356176100 | WFS1 | c.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) | |
4 | g.6301378dup | CA1435773406 | WFS1 | c.1619dup (p.Tyr540Ter) c.1560dup c.1583dup (p.Tyr528Ter) c.1334dup (p.Tyr445Ter) c.1242dup (p.Leu415ThrfsTer?) n.1768dup c.1592dup (p.Tyr531Ter) | dbSNP |
4 | g.6301379C>A | CA356176111 | WFS1 | c.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) | |
4 | g.6301379C= | CA1435773410 | WFS1 | c.1620C= (p.Tyr540=) c.1561C= c.1584C= (p.Tyr528=) c.1335C= (p.Tyr445=) c.1243C= (p.Leu415=) n.1769C= c.1593C= (p.Tyr531=) | |
4 | g.6301379C>G | CA2839412 | WFS1 | c.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 |
4 | g.6301379C>T | CA438368603 | WFS1 | c.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 |
4 | g.6301380T>A | CA356176112 | WFS1 | c.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) | |
4 | g.6301380T>C | CA356176113 | WFS1 | c.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 |
4 | g.6301380T>G | CA356176114 | WFS1 | c.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) | |
4 | g.6301381G>A | CA356176115 | WFS1 | c.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 |
4 | g.6301381G>C | CA356176116 | WFS1 | c.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) | |
4 | g.6301381G= | CA1435773414 | WFS1 | c.1622G= (p.Cys541=) c.1563G= c.1586G= (p.Cys529=) c.1337G= (p.Cys446=) c.1245G= (p.Leu415=) n.1771G= c.1595G= (p.Cys532=) | |
4 | g.6301381G>T | CA356176117 | WFS1 | c.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 |
4 | g.6301382C>A | CA356176118 | WFS1 | c.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) | |
4 | g.6301382C= | CA1435773416 | WFS1 | c.1623C= (p.Cys541=) c.1564C= c.1587C= (p.Cys529=) c.1338C= (p.Cys446=) c.1246C= (p.Leu416=) n.1772C= c.1596C= (p.Cys532=) | |
4 | g.6301382C>G | CA2839413 | WFS1 | c.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 |
4 | g.6301382C>T | CA438368605 | WFS1 | c.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 |
4 | g.6301384_6301387dup | CA2586973630 | WFS1 | c.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) | |
4 | g.6301383T>A | CA356176122 | WFS1 | c.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 |
4 | g.6301383T>C | CA356176123 | WFS1 | c.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 |
4 | g.6301383T>G | CA356176127 | WFS1 | c.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) | |
4 | g.6301384A>C | CA356176133 | WFS1 | c.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) | |
4 | g.6301384A>G | CA356176131 | WFS1 | c.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 |
4 | g.6301384A>T | CA356176129 | WFS1 | c.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) | |
4 | g.6301385C>A | CA356176137 | WFS1 | c.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) | |
4 | g.6301385C= | CA1435773418 | WFS1 | c.1626C= (p.Tyr542=) c.1567C= c.1590C= (p.Tyr530=) c.1341C= (p.Tyr447=) c.1249C= (p.Pro417=) n.1775C= c.1599C= (p.Tyr533=) | |
4 | g.6301385C>G | CA356176140 | WFS1 | c.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 |
4 | g.6301385C>T | CA2839414 | WFS1 | c.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 |
4 | g.6301385_6301388dup | CA2586973631 | WFS1 | c.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 |
4 | g.6301386C>A | CA356176147 | WFS1 | c.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) | |
4 | g.6301386C= | CA1435773421 | WFS1 | c.1627C= (p.Leu543=) c.1568C= c.1591C= (p.Leu531=) c.1342C= (p.Leu448=) c.1250C= (p.Pro417=) n.1776C= c.1600C= (p.Leu534=) | |
4 | g.6301386C>G | CA356176149 | WFS1 | c.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 |
4 | g.6301386C>T | CA2839415 | WFS1 | c.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 |
4 | g.6301387T>A | CA356176153 | WFS1 | c.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) | |
4 | g.6301387T>C | CA356176154 | WFS1 | c.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 |
4 | g.6301387T>G | CA2839416 | WFS1 | c.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 |
4 | g.6301387T= | CA1435773427 | WFS1 | c.1628T= (p.Leu543=) c.1569T= c.1592T= (p.Leu531=) c.1343T= (p.Leu448=) c.1251T= (p.Pro417=) n.1777T= c.1601T= (p.Leu534=) | |
4 | g.6301388T>A | CA438368613 | WFS1 | c.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=) | |
4 | g.6301388T>C | CA438368612 | WFS1 | c.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=) | |
4 | g.6301388T>G | CA438368610 | WFS1 | c.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 |
4 | g.6301388T= | CA1435773428 | WFS1 | c.1629T= (p.Leu543=) c.1570T= c.1593T= (p.Leu531=) c.1344T= (p.Leu448=) c.1252T= (p.Cys418=) n.1778T= c.1602T= (p.Leu534=) | |
4 | g.6301389G>A | CA356176156 | WFS1 | c.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) | |
4 | g.6301389G>C | CA356176157 | WFS1 | c.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) | |
4 | g.6301389G= | CA1435773430 | WFS1 | c.1630G= (p.Val544=) c.1571G= c.1594G= (p.Val532=) c.1345G= (p.Val449=) c.1253G= (p.Cys418=) n.1779G= c.1603G= (p.Val535=) | |
4 | g.6301389G>T | CA2839417 | WFS1 | c.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 |
4 | g.6301390T>A | CA356176161 | WFS1 | c.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) | |
4 | g.6301390T>C | CA356176162 | WFS1 | c.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) | |
4 | g.6301390T>G | CA356176158 | WFS1 | c.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) | |
4 | g.6301391G>A | CA438368618 | WFS1 | c.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 |
4 | g.6301391G>C | CA438368616 | WFS1 | c.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=) | |
4 | g.6301391G>T | CA438368614 | WFS1 | c.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 |
4 | g.6301392C>A | CA356176165 | WFS1 | c.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) | |
4 | g.6301392C= | CA1435773437 | WFS1 | c.1633C= (p.Pro545=) c.1574C= c.1597C= (p.Pro533=) c.1348C= (p.Pro450=) c.1256C= (p.Ala419=) n.1782C= c.1606C= (p.Pro536=) | |
4 | g.6301392C>G | CA356176166 | WFS1 | c.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 |
4 | g.6301392C>T | CA232537 | WFS1 | c.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 |
4 | g.6301393C>A | CA356176169 | WFS1 | c.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) | |
4 | g.6301393C>G | CA356176171 | WFS1 | c.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) | |
4 | g.6301393C>T | CA356176172 | WFS1 | c.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 |
4 | g.6301394C>A | CA438368620 | WFS1 | c.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=) | |
4 | g.6301394C= | CA1435773442 | WFS1 | c.1635C= (p.Pro545=) c.1576C= c.1599C= (p.Pro533=) c.1350C= (p.Pro450=) c.1258C= (p.Leu420=) n.1784C= c.1608C= (p.Pro536=) | |
4 | g.6301394C>G | CA438368623 | WFS1 | c.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 |
4 | g.6301394C>T | CA438368621 | WFS1 | c.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 |
4 | g.6301395T>A | CA356176174 | WFS1 | c.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) | |
4 | g.6301395T>C | CA356176178 | WFS1 | c.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 |
4 | g.6301395T>G | CA356176180 | WFS1 | c.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) | |
4 | g.6301396A>C | CA356176182 | WFS1 | c.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) | |
4 | g.6301396A>G | CA356176184 | WFS1 | c.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) | |
4 | g.6301396A>T | CA356176185 | WFS1 | c.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) | |
4 | g.6301397C>A | CA356176188 | WFS1 | c.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) | |
4 | g.6301397C= | CA1435773445 | WFS1 | c.1638C= (p.Tyr546=) c.1579C= c.1602C= (p.Tyr534=) c.1353C= (p.Tyr451=) c.1261C= (p.Pro421=) n.1787C= c.1611C= (p.Tyr537=) | |
4 | g.6301397C>G | CA356176190 | WFS1 | c.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) | |
4 | g.6301397C>T | CA2839418 | WFS1 | c.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 |
4 | g.6301398C>A | CA356176193 | WFS1 | c.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) | |
4 | g.6301398C= | CA1435773448 | WFS1 | c.1639C= (p.Leu547=) c.1580C= c.1603C= (p.Leu535=) c.1354C= (p.Leu452=) c.1262C= (p.Pro421=) n.1788C= c.1612C= (p.Leu538=) | |
4 | g.6301398C>G | CA356176205 | WFS1 | c.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 |
4 | g.6301398C>T | CA438368628 | WFS1 | c.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 |
4 | g.6301398_6301412delinsCTGGTGTGCTTCATG | CA1435773449 | WFS1 | c.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=) | |
4 | g.6301399T>A | CA356176208 | WFS1 | c.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) | |
4 | g.6301399T>C | CA356176211 | WFS1 | c.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) | |
4 | g.6301399T>G | CA356176213 | WFS1 | c.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) | |
4 | g.6301406_6301419del | CA917120719 | WFS1 | c.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 |
4 | g.6301400G>A | CA91796385 | WFS1 | c.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 |
4 | g.6301400G>C | CA438368630 | WFS1 | c.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 |
4 | g.6301400G= | CA1435773453 | WFS1 | c.1641G= (p.Leu547=) c.1582G= c.1605G= (p.Leu535=) c.1356G= (p.Leu452=) c.1264G= (p.Gly422=) n.1790G= c.1614G= (p.Leu538=) | |
4 | g.6301400G>T | CA438368629 | WFS1 | c.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 |
4 | g.6301401G>A | CA356176216 | WFS1 | c.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 |
4 | g.6301401G>C | CA356176224 | WFS1 | c.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 |
4 | g.6301401G= | CA1435773456 | WFS1 | c.1642G= (p.Val548=) c.1583G= c.1606G= (p.Val536=) c.1357G= (p.Val453=) c.1265G= (p.Gly422=) n.1791G= c.1615G= (p.Val539=) | |
4 | g.6301401G>T | CA356176219 | WFS1 | c.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 |
4 | g.6301402T>A | CA356176227 | WFS1 | c.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 |
4 | g.6301402T>C | CA356176229 | WFS1 | c.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) | |
4 | g.6301402T>G | CA356176239 | WFS1 | c.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) | |
4 | g.6301402T= | CA1435773461 | WFS1 | c.1643T= (p.Val548=) c.1584T= c.1607T= (p.Val536=) c.1358T= (p.Val453=) c.1266T= (p.Gly422=) n.1792T= c.1616T= (p.Val539=) | |
4 | g.6301403G>A | CA91796389 | WFS1 | c.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 |
4 | g.6301403G>C | CA2839419 | WFS1 | c.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 |
4 | g.6301403G= | CA1435773468 | WFS1 | c.1644G= (p.Val548=) c.1585G= c.1608G= (p.Val536=) c.1359G= (p.Val453=) c.1267G= (p.Val423=) n.1793G= c.1617G= (p.Val539=) | |
4 | g.6301403G>T | CA438368631 | WFS1 | c.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=) | |
4 | g.6301404T>A | CA356176250 | WFS1 | c.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) | |
4 | g.6301404T>C | CA356176248 | WFS1 | c.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 |
4 | g.6301404T>G | CA356176243 | WFS1 | c.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 |
4 | g.6301405G>A | CA324604 | WFS1 | c.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 |
4 | g.6301405G>C | CA356176254 | WFS1 | c.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) | |
4 | g.6301405G= | CA1435773474 | WFS1 | c.1646G= (p.Cys549=) c.1587G= c.1610G= (p.Cys537=) c.1361G= (p.Cys454=) c.1269G= (p.Val423=) n.1795G= c.1619G= (p.Cys540=) | |
4 | g.6301405G>T | CA356176253 | WFS1 | c.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 |
4 | g.6301405_6301406delinsGC | CA1435773479 | WFS1 | c.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=) | |
4 | g.6301406del | CA2839420 | WFS1 | c.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 |
4 | g.6301406C>A | CA356176255 | WFS1 | c.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) | |
4 | g.6301406C= | CA1435773482 | WFS1 | c.1647C= (p.Cys549=) c.1588C= c.1611C= (p.Cys537=) c.1362C= (p.Cys454=) c.1270C= (p.Leu424=) n.1796C= c.1620C= (p.Cys540=) | |
4 | g.6301406C>G | CA356176256 | WFS1 | c.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) | |
4 | g.6301406C>T | CA2839421 | WFS1 | c.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 |
4 | g.6301407T>A | CA356176257 | WFS1 | c.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) | |
4 | g.6301407T>C | CA356176259 | WFS1 | c.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 |
4 | g.6301407T>G | CA356176262 | WFS1 | c.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 |
4 | g.6301408T>A | CA356176265 | WFS1 | c.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) | |
4 | g.6301408T>C | CA356176267 | WFS1 | c.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 |
4 | g.6301408T>G | CA356176269 | WFS1 | c.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) | |
4 | g.6301408T= | CA1435773491 | WFS1 | c.1649T= (p.Phe550=) c.1590T= c.1613T= (p.Phe538=) c.1364T= (p.Phe455=) c.1272T= (p.Leu424=) n.1798T= c.1622T= (p.Phe541=) | |
4 | g.6301409C>A | CA356176271 | WFS1 | c.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 |
4 | g.6301409C= | CA1435773500 | WFS1 | c.1650C= (p.Phe550=) c.1591C= c.1614C= (p.Phe538=) c.1365C= (p.Phe455=) c.1273C= (p.His425=) n.1799C= c.1623C= (p.Phe541=) | |
4 | g.6301409C>G | CA356176273 | WFS1 | c.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) | |
4 | g.6301409C>T | CA91796396 | WFS1 | c.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 |
4 | g.6301410A= | CA1435773501 | WFS1 | c.1651A= (p.Met551=) c.1592A= c.1615A= (p.Met539=) c.1366A= (p.Met456=) c.1274A= (p.His425=) n.1800A= c.1624A= (p.Met542=) | |
4 | g.6301410A>C | CA356176285 | WFS1 | c.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) | |
4 | g.6301410A>G | CA356176276 | WFS1 | c.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 |
4 | g.6301410A>T | CA356176283 | WFS1 | c.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 |
4 | g.6301411T>A | CA356176287 | WFS1 | c.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) | |
4 | g.6301411T>C | CA356176288 | WFS1 | c.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) | |
4 | g.6301411T>G | CA356176289 | WFS1 | c.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) | |
4 | g.6301412G>A | CA356176290 | WFS1 | c.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 |
4 | g.6301412G>C | CA356176291 | WFS1 | c.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 |
4 | g.6301412G= | CA1435773503 | WFS1 | c.1653G= (p.Met551=) c.1594G= c.1617G= (p.Met539=) c.1368G= (p.Met456=) c.1276G= (p.Val426=) n.1802G= c.1626G= (p.Met542=) | |
4 | g.6301412G>T | CA356176293 | WFS1 | c.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) | |
4 | g.6301415_6301417del | CA2578035820 | WFS1 | c.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 |
4 | g.6301413T>A | CA356176295 | WFS1 | c.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) | |
4 | g.6301413T>C | CA356176296 | WFS1 | c.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) | |
4 | g.6301413T>G | CA356176297 | WFS1 | c.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) | |
4 | g.6301413T= | CA1435773504 | WFS1 | c.1654T= (p.Trp552=) c.1595T= c.1618T= (p.Trp540=) c.1369T= (p.Trp457=) c.1277T= (p.Val426=) n.1803T= c.1627T= (p.Trp543=) | |
4 | g.6301414G>A | CA356176298 | WFS1 | c.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 |
4 | g.6301414G>C | CA356176299 | WFS1 | c.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) | |
4 | g.6301414G= | CA1435773507 | WFS1 | c.1655G= (p.Trp552=) c.1596G= c.1619G= (p.Trp540=) c.1370G= (p.Trp457=) c.1278G= (p.Val426=) n.1804G= c.1628G= (p.Trp543=) | |
4 | g.6301414G>T | CA356176300 | WFS1 | c.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 |
4 | g.6301414_6301437dup | CA549707911 | WFS1 | c.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 |
4 | g.6301415G>A | CA91796398 | WFS1 | c.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 |
4 | g.6301415G>C | CA356176304 | WFS1 | c.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 |
4 | g.6301415G= | CA1435773515 | WFS1 | c.1656G= (p.Trp552=) c.1597G= c.1620G= (p.Trp540=) c.1371G= (p.Trp457=) c.1279G= (p.Val427=) n.1805G= c.1629G= (p.Trp543=) | |
4 | g.6301415G>T | CA356176303 | WFS1 | c.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 |
4 | g.6301418_6301419del | CA2669843442 | WFS1 | c.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 |
4 | g.6301416T>A | CA356176306 | WFS1 | c.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) | |
4 | g.6301416T>C | CA356176309 | WFS1 | c.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 |
4 | g.6301416T>G | CA356176310 | WFS1 | c.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 |
4 | g.6301417G>A | CA356176311 | WFS1 | c.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) | |
4 | g.6301417G>C | CA356176312 | WFS1 | c.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) | |
4 | g.6301417G>T | CA356176313 | WFS1 | c.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) | |
4 | g.6301418T>A | CA356176315 | WFS1 | c.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) | |
4 | g.6301418T>C | CA438368632 | WFS1 | c.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 |
4 | g.6301418T>G | CA2839422 | WFS1 | c.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 |
4 | g.6301418T= | CA1435773523 | WFS1 | c.1659T= (p.Cys553=) c.1600T= c.1623T= (p.Cys541=) c.1374T= (p.Cys458=) c.1282T= (p.Ter428=) n.1808T= c.1632T= (p.Cys544=) | |
4 | g.6301419G>A | CA356176320 | WFS1 | c.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) | |
4 | g.6301419G>C | CA356176323 | WFS1 | c.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) | |
4 | g.6301419G>T | CA356176329 | WFS1 | c.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 |
4 | g.6301420A>C | CA356176336 | WFS1 | c.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) | |
4 | g.6301420A>G | CA356176334 | WFS1 | c.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) | |
4 | g.6301420A>T | CA356176332 | WFS1 | c.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) | |
4 | g.6301421G>A | CA438368633 | WFS1 | c.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 |
4 | g.6301421G>C | CA356176337 | WFS1 | c.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) | |
4 | g.6301421G= | CA1435773528 | WFS1 | c.1662G= (p.Glu554=) c.1603G= c.1626G= (p.Glu542=) c.1377G= (p.Glu459=) c.1285G= (n.1285G=) n.1811G= c.1635G= (p.Glu545=) | |
4 | g.6301421G>T | CA356176339 | WFS1 | c.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 |
4 | g.6301422C>A | CA356176340 | WFS1 | c.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) | |
4 | g.6301422C= | CA1435773531 | WFS1 | c.1663C= (p.Leu555=) c.1604C= c.1627C= (p.Leu543=) c.1378C= (p.Leu460=) c.1286C= (n.1286C=) n.1812C= c.1636C= (p.Leu546=) | |
4 | g.6301422C>G | CA356176341 | WFS1 | c.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 |
4 | g.6301422C>T | CA356176343 | WFS1 | c.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 |
4 | g.6301423T>A | CA356176345 | WFS1 | c.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) | |
4 | g.6301423T>C | CA356176347 | WFS1 | c.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 |
4 | g.6301423T>G | CA356176348 | WFS1 | c.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 |
4 | g.6301423T= | CA1435773532 | WFS1 | c.1664T= (p.Leu555=) c.1605T= c.1628T= (p.Leu543=) c.1379T= (p.Leu460=) c.1287T= (n.1287T=) n.1813T= c.1637T= (p.Leu546=) | |
4 | g.6301424C>A | CA438368636 | WFS1 | c.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=) | |
4 | g.6301424C= | CA1435773535 | WFS1 | c.1665C= (p.Leu555=) c.1606C= c.1629C= (p.Leu543=) c.1380C= (p.Leu460=) c.1288C= (n.1288C=) n.1814C= c.1638C= (p.Leu546=) | |
4 | g.6301424C>G | CA438368637 | WFS1 | c.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 |
4 | g.6301424C>T | CA2839423 | WFS1 | c.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 |
4 | g.6301425T>A | CA91796405 | WFS1 | c.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 |
4 | g.6301425T>C | CA356176350 | WFS1 | c.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 |
4 | g.6301425T>G | CA356176351 | WFS1 | c.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 |
4 | g.6301425T= | CA1435773539 | WFS1 | c.1666T= (p.Ser556=) c.1607T= c.1630T= (p.Ser544=) c.1381T= (p.Ser461=) c.1289T= (n.1289T=) n.1815T= c.1639T= (p.Ser547=) | |
4 | g.6301426C>A | CA356176353 | WFS1 | c.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) | |
4 | g.6301426C= | CA1435773544 | WFS1 | c.1667C= (p.Ser556=) c.1608C= c.1631C= (p.Ser544=) c.1382C= (p.Ser461=) c.1290C= (n.1290C=) n.1816C= c.1640C= (p.Ser547=) | |
4 | g.6301426C>G | CA91796407 | WFS1 | c.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 |
4 | g.6301426C>T | CA2839424 | WFS1 | c.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 |
4 | g.6301427C>A | CA438368638 | WFS1 | c.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 |
4 | g.6301427C= | CA1435773548 | WFS1 | c.1668C= (p.Ser556=) c.1609C= c.1632C= (p.Ser544=) c.1383C= (p.Ser461=) c.1291C= (n.1291C=) n.1817C= c.1641C= (p.Ser547=) | |
4 | g.6301427C>G | CA438368639 | WFS1 | c.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=) | |
4 | g.6301427C>T | CA182622 | WFS1 | c.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 |
4 | g.6301428G>A | CA320502 | WFS1 | c.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 |
4 | g.6301428G>C | CA356176356 | WFS1 | c.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 |
4 | g.6301428G= | CA1435773557 | WFS1 | c.1669G= (p.Val557=) c.1610G= c.1633G= (p.Val545=) c.1384G= (p.Val462=) c.1292G= (n.1292G=) n.1818G= c.1642G= (p.Val548=) | |
4 | g.6301428G>T | CA356176357 | WFS1 | c.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 |
4 | g.6301429T>A | CA356176359 | WFS1 | c.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) | |
4 | g.6301429T>C | CA356176361 | WFS1 | c.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) | |
4 | g.6301429T>G | CA356176363 | WFS1 | c.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) | |
4 | g.6301430G>A | CA438368645 | WFS1 | c.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 |
4 | g.6301430G>C | CA438368644 | WFS1 | c.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=) | |
4 | g.6301430G>T | CA438368643 | WFS1 | c.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 |
4 | g.6301431del | CA2578035821 | WFS1 | c.1672del (p.Val558SerfsTer?) c.1613del c.1636del (p.Val546SerfsTer?) c.1387del (p.Val463SerfsTer?) c.1295del (n.1295del) n.1821del c.1645del (p.Val549SerfsTer?) | |
4 | g.6301431G>A | CA356176365 | WFS1 | c.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 |
4 | g.6301431G>C | CA2839425 | WFS1 | c.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 |
4 | g.6301431G= | CA1435773561 | WFS1 | c.1672G= (p.Val558=) c.1613G= c.1636G= (p.Val546=) c.1387G= (p.Val463=) c.1295G= (n.1295G=) n.1821G= c.1645G= (p.Val549=) | |
4 | g.6301431G>T | CA356176368 | WFS1 | c.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) | |
4 | g.6301432T>A | CA356176370 | WFS1 | c.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) | |
4 | g.6301432T>C | CA356176372 | WFS1 | c.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 |
4 | g.6301432T>G | CA356176373 | WFS1 | c.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 |
4 | g.6301432T= | CA1435773564 | WFS1 | c.1673T= (p.Val558=) c.1614T= c.1637T= (p.Val546=) c.1388T= (p.Val463=) c.1296T= (n.1296T=) n.1822T= c.1646T= (p.Val549=) | |
4 | g.6301433C>A | CA438368826 | WFS1 | c.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 |
4 | g.6301433C>G | CA438368827 | WFS1 | c.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 |
4 | g.6301433C>T | CA438368829 | WFS1 | c.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=) | |
4 | g.6301434A= | CA1435773569 | WFS1 | c.1675A= (p.Ile559=) c.1616A= c.1639A= (p.Ile547=) c.1390A= (p.Ile464=) c.1298A= (n.1298A=) n.1824A= c.1648A= (p.Ile550=) | |
4 | g.6301434A>C | CA356176378 | WFS1 | c.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 |
4 | g.6301434A>G | CA356176376 | WFS1 | c.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) | |
4 | g.6301434A>T | CA356176375 | WFS1 | c.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 |
4 | g.6301435T>A | CA356176379 | WFS1 | c.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) | |
4 | g.6301435T>C | CA356176380 | WFS1 | c.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) | |
4 | g.6301435T>G | CA356176382 | WFS1 | c.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) | |
4 | g.6301436C>A | CA438368834 | WFS1 | c.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 |
4 | g.6301436C>G | CA356176383 | WFS1 | c.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) | |
4 | g.6301436C>T | CA438368835 | WFS1 | c.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=) | |
4 | g.6301437C>A | CA2839426 | WFS1 | c.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 |
4 | g.6301437C= | CA1435773574 | WFS1 | c.1678C= (p.Leu560=) c.1619C= c.1642C= (p.Leu548=) c.1393C= (p.Leu465=) c.1301C= (n.1301C=) n.1827C= c.1651C= (p.Leu551=) | |
4 | g.6301437C>G | CA356176385 | WFS1 | c.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) | |
4 | g.6301437C>T | CA438368842 | WFS1 | c.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 |
4 | g.6301438T>A | CA356176387 | WFS1 | c.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) | |
4 | g.6301438T>C | CA356176389 | WFS1 | c.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) | |
4 | g.6301438T>G | CA356176390 | WFS1 | c.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) | |
4 | g.6301439G>A | CA2839427 | WFS1 | c.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 |
4 | g.6301439G>C | CA91796418 | WFS1 | c.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 |
4 | g.6301439G= | CA1435773579 | WFS1 | c.1680G= (p.Leu560=) c.1621G= c.1644G= (p.Leu548=) c.1395G= (p.Leu465=) c.1303G= (n.1303G=) n.1829G= c.1653G= (p.Leu551=) | |
4 | g.6301439G>T | CA438368849 | WFS1 | c.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=) | |
4 | g.6301440C>A | CA356176393 | WFS1 | c.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 |
4 | g.6301440C= | CA1435773580 | WFS1 | c.1681C= (p.Leu561=) c.1622C= c.1645C= (p.Leu549=) c.1396C= (p.Leu466=) c.1304C= (n.1304C=) n.1830C= c.1654C= (p.Leu552=) | |
4 | g.6301440C>G | CA185322 | WFS1 | c.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 |
4 | g.6301440C>T | CA91796422 | WFS1 | c.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 |
4 | g.6301441T>A | CA356176396 | WFS1 | c.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) | |
4 | g.6301441T>C | CA2839428 | WFS1 | c.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 |
4 | g.6301441T>G | CA356176394 | WFS1 | c.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) | |
4 | g.6301441T= | CA1435773581 | WFS1 | c.1682T= (p.Leu561=) c.1623T= c.1646T= (p.Leu549=) c.1397T= (p.Leu466=) c.1305T= (n.1305T=) n.1831T= c.1655T= (p.Leu552=) | |
4 | g.6301442G>A | CA438368857 | WFS1 | c.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 |
4 | g.6301442G>C | CA438368858 | WFS1 | c.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=) | |
4 | g.6301442G= | CA1435773582 | WFS1 | c.1683G= (p.Leu561=) c.1624G= c.1647G= (p.Leu549=) c.1398G= (p.Leu466=) c.1306G= (n.1306G=) n.1832G= c.1656G= (p.Leu552=) | |
4 | g.6301442G>T | CA438368860 | WFS1 | c.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=) | |
4 | g.6301443G>A | CA356176400 | WFS1 | c.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) | |
4 | g.6301443G>C | CA356176401 | WFS1 | c.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) | |
4 | g.6301443G>T | CA356176403 | WFS1 | c.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 |
4 | g.6301444A= | CA1435773583 | WFS1 | c.1685A= (p.Glu562=) c.1626A= c.1649A= (p.Glu550=) c.1400A= (p.Glu467=) c.1308A= (n.1308A=) n.1834A= c.1658A= (p.Glu553=) | |
4 | g.6301444A>C | CA2839429 | WFS1 | c.1685A>C (p.Glu562Ala) c.1626A>C c.1649A>C (p.Glu550Ala) c.1400A>C (p.Glu467Ala) c.1308A>C (n.1308A>C) n.1834A>C c.1658A>C (p.Glu553Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301444A>G | CA356176405 | WFS1 | c.1685A>G (p.Glu562Gly) c.1626A>G c.1649A>G (p.Glu550Gly) c.1400A>G (p.Glu467Gly) c.1308A>G (n.1308A>G) n.1834A>G c.1658A>G (p.Glu553Gly) | |
4 | g.6301444A>T | CA356176406 | WFS1 | c.1685A>T (p.Glu562Val) c.1626A>T c.1649A>T (p.Glu550Val) c.1400A>T (p.Glu467Val) c.1308A>T (n.1308A>T) n.1834A>T c.1658A>T (p.Glu553Val) | ClinVar dbSNP |
4 | g.6301445G>A | CA438368873 | WFS1 | c.1686G>A (p.Glu562=) c.1627G>A c.1650G>A (p.Glu550=) c.1401G>A (p.Glu467=) c.1309G>A (n.1309G>A) n.1835G>A c.1659G>A (p.Glu553=) | |
4 | g.6301445G>C | CA356176407 | WFS1 | c.1686G>C (p.Glu562Asp) c.1627G>C c.1650G>C (p.Glu550Asp) c.1401G>C (p.Glu467Asp) c.1309G>C (n.1309G>C) n.1835G>C c.1659G>C (p.Glu553Asp) | |
4 | g.6301445G>T | CA356176409 | WFS1 | c.1686G>T (p.Glu562Asp) c.1627G>T c.1650G>T (p.Glu550Asp) c.1401G>T (p.Glu467Asp) c.1309G>T (n.1309G>T) n.1835G>T c.1659G>T (p.Glu553Asp) | gnomAD v4 |
4 | g.6301446T>A | CA356176411 | WFS1 | c.1687T>A (p.Ser563Thr) c.1628T>A c.1651T>A (p.Ser551Thr) c.1402T>A (p.Ser468Thr) c.1310T>A (n.1310T>A) n.1836T>A c.1660T>A (p.Ser554Thr) | dbSNP |
4 | g.6301446T>C | CA356176412 | WFS1 | c.1687T>C (p.Ser563Pro) c.1628T>C c.1651T>C (p.Ser551Pro) c.1402T>C (p.Ser468Pro) c.1310T>C (n.1310T>C) n.1836T>C c.1660T>C (p.Ser554Pro) | |
4 | g.6301446T>G | CA356176413 | WFS1 | c.1687T>G (p.Ser563Ala) c.1628T>G c.1651T>G (p.Ser551Ala) c.1402T>G (p.Ser468Ala) c.1310T>G (n.1310T>G) n.1836T>G c.1660T>G (p.Ser554Ala) | |
4 | g.6301446T= | CA1435773585 | WFS1 | c.1687T= (p.Ser563=) c.1628T= c.1651T= (p.Ser551=) c.1402T= (p.Ser468=) c.1310T= (n.1310T=) n.1836T= c.1660T= (p.Ser554=) | |
4 | g.6301447C>A | CA356176414 | WFS1 | c.1688C>A (p.Ser563Tyr) c.1629C>A c.1652C>A (p.Ser551Tyr) c.1403C>A (p.Ser468Tyr) c.1311C>A (n.1311C>A) n.1837C>A c.1661C>A (p.Ser554Tyr) | |
4 | g.6301447C>G | CA356176415 | WFS1 | c.1688C>G (p.Ser563Cys) c.1629C>G c.1652C>G (p.Ser551Cys) c.1403C>G (p.Ser468Cys) c.1311C>G (n.1311C>G) n.1837C>G c.1661C>G (p.Ser554Cys) | |
4 | g.6301447C>T | CA356176417 | WFS1 | c.1688C>T (p.Ser563Phe) c.1629C>T c.1652C>T (p.Ser551Phe) c.1403C>T (p.Ser468Phe) c.1311C>T (n.1311C>T) n.1837C>T c.1661C>T (p.Ser554Phe) | ClinVar |
4 | g.6301448C>A | CA438368883 | WFS1 | c.1689C>A (p.Ser563=) c.1630C>A c.1653C>A (p.Ser551=) c.1404C>A (p.Ser468=) c.1312C>A (n.1312C>A) n.1838C>A c.1662C>A (p.Ser554=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301448C= | CA1435773586 | WFS1 | c.1689C= (p.Ser563=) c.1630C= c.1653C= (p.Ser551=) c.1404C= (p.Ser468=) c.1312C= (n.1312C=) n.1838C= c.1662C= (p.Ser554=) | |
4 | g.6301448C>G | CA438368886 | WFS1 | c.1689C>G (p.Ser563=) c.1630C>G c.1653C>G (p.Ser551=) c.1404C>G (p.Ser468=) c.1312C>G (n.1312C>G) n.1838C>G c.1662C>G (p.Ser554=) | |
4 | g.6301448C>T | CA2839430 | WFS1 | c.1689C>T (p.Ser563=) c.1630C>T c.1653C>T (p.Ser551=) c.1404C>T (p.Ser468=) c.1312C>T (n.1312C>T) n.1838C>T c.1662C>T (p.Ser554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |