| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301273_6301313del | CA2669843437 | WFS1 | c.1514_1554del (p.Val505AlafsTer?) c.1455_1495del c.1478_1518del (p.Val493AlafsTer?) c.1229_1269del (p.Val410AlafsTer?) c.1137_1177del (p.Arg380SerfsTer15) n.1663_1703del c.1487_1527del (p.Val496AlafsTer?) | gnomAD v4 |
| 4 | g.6301290_6301292del | CA2839376 | WFS1 | c.1531_1533del (p.Leu511del) c.1472_1474del c.1495_1497del (p.Leu499del) c.1246_1248del (p.Leu416del) c.1154_1156del (p.Pro385del) n.1680_1682del c.1504_1506del (p.Leu502del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301292C>A | CA438369051 | WFS1 | c.1533C>A (p.Leu511=) c.1474C>A c.1497C>A (p.Leu499=) c.1248C>A (p.Leu416=) c.1156C>A (p.Gln386Lys) n.1682C>A c.1506C>A (p.Leu502=) | |
| 4 | g.6301292C= | CA1435773129 | WFS1 | c.1533C= (p.Leu511=) c.1474C= c.1497C= (p.Leu499=) c.1248C= (p.Leu416=) c.1156C= (p.Gln386=) n.1682C= c.1506C= (p.Leu502=) | |
| 4 | g.6301292C>G | CA438369052 | WFS1 | c.1533C>G (p.Leu511=) c.1474C>G c.1497C>G (p.Leu499=) c.1248C>G (p.Leu416=) c.1156C>G (p.Gln386Glu) n.1682C>G c.1506C>G (p.Leu502=) | |
| 4 | g.6301292C>T | CA2839378 | WFS1 | c.1533C>T (p.Leu511=) c.1474C>T c.1497C>T (p.Leu499=) c.1248C>T (p.Leu416=) c.1156C>T (p.Gln386Ter) n.1682C>T c.1506C>T (p.Leu502=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301293A>C | CA356175191 | WFS1 | c.1534A>C (p.Asn512His) c.1475A>C c.1498A>C (p.Asn500His) c.1249A>C (p.Asn417His) c.1157A>C (p.Gln386Pro) n.1683A>C c.1507A>C (p.Asn503His) | gnomAD v4 |
| 4 | g.6301293A>G | CA356175192 | WFS1 | c.1534A>G (p.Asn512Asp) c.1475A>G c.1498A>G (p.Asn500Asp) c.1249A>G (p.Asn417Asp) c.1157A>G (p.Gln386Arg) n.1683A>G c.1507A>G (p.Asn503Asp) | |
| 4 | g.6301293A>T | CA356175193 | WFS1 | c.1534A>T (p.Asn512Tyr) c.1475A>T c.1498A>T (p.Asn500Tyr) c.1249A>T (p.Asn417Tyr) c.1157A>T (p.Gln386Leu) n.1683A>T c.1507A>T (p.Asn503Tyr) | |
| 4 | g.6301293_6301296delinsAACG | CA1435773133 | WFS1 | c.1534_1537delinsAACG (p.Asn512=) c.1475_1478delinsAACG c.1498_1501delinsAACG (p.Asn500=) c.1249_1252delinsAACG (p.Asn417=) c.1157_1160delinsAACG (p.Gln386=) n.1683_1686delinsAACG c.1507_1510delinsAACG (p.Asn503=) | |
| 4 | g.6301294A= | CA1435773136 | WFS1 | c.1535A= (p.Asn512=) c.1476A= c.1499A= (p.Asn500=) c.1250A= (p.Asn417=) c.1158A= (p.Gln386=) n.1684A= c.1508A= (p.Asn503=) | |
| 4 | g.6301294A>C | CA356175195 | WFS1 | c.1535A>C (p.Asn512Thr) c.1476A>C c.1499A>C (p.Asn500Thr) c.1250A>C (p.Asn417Thr) c.1158A>C (p.Gln386His) n.1684A>C c.1508A>C (p.Asn503Thr) | gnomAD v4 |
| 4 | g.6301294A>G | CA356175199 | WFS1 | c.1535A>G (p.Asn512Ser) c.1476A>G c.1499A>G (p.Asn500Ser) c.1250A>G (p.Asn417Ser) c.1158A>G (p.Gln386=) n.1684A>G c.1508A>G (p.Asn503Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301294A>T | CA2839380 | WFS1 | c.1535A>T (p.Asn512Ile) c.1476A>T c.1499A>T (p.Asn500Ile) c.1250A>T (p.Asn417Ile) c.1158A>T (p.Gln386His) n.1684A>T c.1508A>T (p.Asn503Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301294_6301295delinsGT | CA2580071772 | WFS1 | c.1535_1536delinsGT (p.Asn512Ser) c.1476_1477delinsGT c.1499_1500delinsGT (p.Asn500Ser) c.1250_1251delinsGT (p.Asn417Ser) c.1158_1159delinsGT (p.Arg387Cys) n.1684_1685delinsGT c.1508_1509delinsGT (p.Asn503Ser) | ClinVar |
| 4 | g.6301294_6301296del | CA2839379 | WFS1 | c.1535_1537del (p.Asn512_Val513delinsIle) c.1476_1478del c.1499_1501del (p.Asn500_Val501delinsIle) c.1250_1252del (p.Asn417_Val418delinsIle) c.1158_1160del (p.Gln386_Arg387delinsHis) n.1684_1686del c.1508_1510del (p.Asn503_Val504delinsIle) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301294_6301295insTGT | CA2669843439 | WFS1 | c.1535_1536insTGT (p.Asn512_Val513insVal) c.1476_1477insTGT c.1499_1500insTGT (p.Asn500_Val501insVal) c.1250_1251insTGT (p.Asn417_Val418insVal) c.1158_1159insTGT (p.Gln386_Arg387insCys) n.1684_1685insTGT c.1508_1509insTGT (p.Asn503_Val504insVal) | gnomAD v4 |
| 4 | g.6301294_6301295insTACT | CA2760285093 | WFS1 | c.1535_1536insTACT (p.Val513ThrfsTer?) c.1476_1477insTACT c.1499_1500insTACT (p.Val501ThrfsTer?) c.1250_1251insTACT (p.Val418ThrfsTer?) c.1158_1159insTACT (p.Arg387TyrfsTer23) n.1684_1685insTACT c.1508_1509insTACT (p.Val504ThrfsTer?) | |
| 4 | g.6301295C>A | CA91796275 | WFS1 | c.1536C>A (p.Asn512Lys) c.1477C>A c.1500C>A (p.Asn500Lys) c.1251C>A (p.Asn417Lys) c.1159C>A (p.Arg387Ser) n.1685C>A c.1509C>A (p.Asn503Lys) | dbSNP |
| 4 | g.6301295C= | CA1435773142 | WFS1 | c.1536C= (p.Asn512=) c.1477C= c.1500C= (p.Asn500=) c.1251C= (p.Asn417=) c.1159C= (p.Arg387=) n.1685C= c.1509C= (p.Asn503=) | |
| 4 | g.6301295C>G | CA91796276 | WFS1 | c.1536C>G (p.Asn512Lys) c.1477C>G c.1500C>G (p.Asn500Lys) c.1251C>G (p.Asn417Lys) c.1159C>G (p.Arg387Gly) n.1685C>G c.1509C>G (p.Asn503Lys) | dbSNP gnomAD v4 |
| 4 | g.6301295C>T | CA136336 | WFS1 | c.1536C>T (p.Asn512=) c.1477C>T c.1500C>T (p.Asn500=) c.1251C>T (p.Asn417=) c.1159C>T (p.Arg387Cys) n.1685C>T c.1509C>T (p.Asn503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301295_6301296insAGCGTCCCGTGCCTGCTCTAT | CA2669843440 | WFS1 | c.1536_1537insAGCGTCCCGTGCCTGCTCTAT (p.Asn512_Val513insSerValProCysLeuLeuTyr) c.1477_1478insAGCGTCCCGTGCCTGCTCTAT c.1500_1501insAGCGTCCCGTGCCTGCTCTAT (p.Asn500_Val501insSerValProCysLeuLeuTyr) c.1251_1252insAGCGTCCCGTGCCTGCTCTAT (p.Asn417_Val418insSerValProCysLeuLeuTyr) c.1159_1160insAGCGTCCCGTGCCTGCTCTAT (p.Arg387delinsGlnArgProValProAlaLeuCys) n.1685_1686insAGCGTCCCGTGCCTGCTCTAT c.1509_1510insAGCGTCCCGTGCCTGCTCTAT (p.Asn503_Val504insSerValProCysLeuLeuTyr) | gnomAD v4 |
| 4 | g.6301296G>A | CA356175204 | WFS1 | c.1537G>A (p.Val513Ile) c.1478G>A c.1501G>A (p.Val501Ile) c.1252G>A (p.Val418Ile) c.1160G>A (p.Arg387His) n.1686G>A c.1510G>A (p.Val504Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301296G>C | CA356175208 | WFS1 | c.1537G>C (p.Val513Leu) c.1478G>C c.1501G>C (p.Val501Leu) c.1252G>C (p.Val418Leu) c.1160G>C (p.Arg387Pro) n.1686G>C c.1510G>C (p.Val504Leu) | dbSNP |
| 4 | g.6301296G= | CA1435773144 | WFS1 | c.1537G= (p.Val513=) c.1478G= c.1501G= (p.Val501=) c.1252G= (p.Val418=) c.1160G= (p.Arg387=) n.1686G= c.1510G= (p.Val504=) | |
| 4 | g.6301296G>T | CA356175206 | WFS1 | c.1537G>T (p.Val513Phe) c.1478G>T c.1501G>T (p.Val501Phe) c.1252G>T (p.Val418Phe) c.1160G>T (p.Arg387Leu) n.1686G>T c.1510G>T (p.Val504Phe) | gnomAD v4 |
| 4 | g.6301297T>A | CA356175210 | WFS1 | c.1538T>A (p.Val513Asp) c.1479T>A c.1502T>A (p.Val501Asp) c.1253T>A (p.Val418Asp) c.1161T>A (p.Arg387=) n.1687T>A c.1511T>A (p.Val504Asp) | ClinVar |
| 4 | g.6301297T>C | CA356175212 | WFS1 | c.1538T>C (p.Val513Ala) c.1479T>C c.1502T>C (p.Val501Ala) c.1253T>C (p.Val418Ala) c.1161T>C (p.Arg387=) n.1687T>C c.1511T>C (p.Val504Ala) | |
| 4 | g.6301297T>G | CA356175214 | WFS1 | c.1538T>G (p.Val513Gly) c.1479T>G c.1502T>G (p.Val501Gly) c.1253T>G (p.Val418Gly) c.1161T>G (p.Arg387=) n.1687T>G c.1511T>G (p.Val504Gly) | |
| 4 | g.6301298C>A | CA438369059 | WFS1 | c.1539C>A (p.Val513=) c.1480C>A c.1503C>A (p.Val501=) c.1254C>A (p.Val418=) c.1162C>A (p.Gln388Lys) n.1688C>A c.1512C>A (p.Val504=) | |
| 4 | g.6301298C= | CA1435773147 | WFS1 | c.1539C= (p.Val513=) c.1480C= c.1503C= (p.Val501=) c.1254C= (p.Val418=) c.1162C= (p.Gln388=) n.1688C= c.1512C= (p.Val504=) | |
| 4 | g.6301298C>G | CA438369062 | WFS1 | c.1539C>G (p.Val513=) c.1480C>G c.1503C>G (p.Val501=) c.1254C>G (p.Val418=) c.1162C>G (p.Gln388Glu) n.1688C>G c.1512C>G (p.Val504=) | |
| 4 | g.6301298C>T | CA2839381 | WFS1 | c.1539C>T (p.Val513=) c.1480C>T c.1503C>T (p.Val501=) c.1254C>T (p.Val418=) c.1162C>T (p.Gln388Ter) n.1688C>T c.1512C>T (p.Val504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301299A>C | CA356175217 | WFS1 | c.1540A>C (p.Ser514Arg) c.1481A>C c.1504A>C (p.Ser502Arg) c.1255A>C (p.Ser419Arg) c.1163A>C (p.Gln388Pro) n.1689A>C c.1513A>C (p.Ser505Arg) | |
| 4 | g.6301299A>G | CA356175219 | WFS1 | c.1540A>G (p.Ser514Gly) c.1481A>G c.1504A>G (p.Ser502Gly) c.1255A>G (p.Ser419Gly) c.1163A>G (p.Gln388Arg) n.1689A>G c.1513A>G (p.Ser505Gly) | |
| 4 | g.6301299A>T | CA356175220 | WFS1 | c.1540A>T (p.Ser514Cys) c.1481A>T c.1504A>T (p.Ser502Cys) c.1255A>T (p.Ser419Cys) c.1163A>T (p.Gln388Leu) n.1689A>T c.1513A>T (p.Ser505Cys) | |
| 4 | g.6301300G>A | CA356175223 | WFS1 | c.1541G>A (p.Ser514Asn) c.1482G>A c.1505G>A (p.Ser502Asn) c.1256G>A (p.Ser419Asn) c.1164G>A (p.Gln388=) n.1690G>A c.1514G>A (p.Ser505Asn) | |
| 4 | g.6301300G>C | CA356175225 | WFS1 | c.1541G>C (p.Ser514Thr) c.1482G>C c.1505G>C (p.Ser502Thr) c.1256G>C (p.Ser419Thr) c.1164G>C (p.Gln388His) n.1690G>C c.1514G>C (p.Ser505Thr) | |
| 4 | g.6301300G>T | CA356175226 | WFS1 | c.1541G>T (p.Ser514Ile) c.1482G>T c.1505G>T (p.Ser502Ile) c.1256G>T (p.Ser419Ile) c.1164G>T (p.Gln388His) n.1690G>T c.1514G>T (p.Ser505Ile) | gnomAD v4 |
| 4 | g.6301302_6301314del | CA2586973625 | WFS1 | c.1543_1555del (p.Val515SerfsTer15) c.1484_1496del c.1507_1519del (p.Val503SerfsTer15) c.1258_1270del (p.Val420SerfsTer15) c.1166_1178del (p.Arg389LeufsTer?) n.1692_1704del c.1516_1528del (p.Val506SerfsTer15) | |
| 4 | g.6301301C>A | CA2839383 | WFS1 | c.1542C>A (p.Ser514Arg) c.1483C>A c.1506C>A (p.Ser502Arg) c.1257C>A (p.Ser419Arg) c.1165C>A (p.Arg389Ser) n.1691C>A c.1515C>A (p.Ser505Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301301C= | CA1435773152 | WFS1 | c.1542C= (p.Ser514=) c.1483C= c.1506C= (p.Ser502=) c.1257C= (p.Ser419=) c.1165C= (p.Arg389=) n.1691C= c.1515C= (p.Ser505=) | |
| 4 | g.6301301C>G | CA356175230 | WFS1 | c.1542C>G (p.Ser514Arg) c.1483C>G c.1506C>G (p.Ser502Arg) c.1257C>G (p.Ser419Arg) c.1165C>G (p.Arg389Gly) n.1691C>G c.1515C>G (p.Ser505Arg) | |
| 4 | g.6301301C>T | CA2839382 | WFS1 | c.1542C>T (p.Ser514=) c.1483C>T c.1506C>T (p.Ser502=) c.1257C>T (p.Ser419=) c.1165C>T (p.Arg389Cys) n.1691C>T c.1515C>T (p.Ser505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301302G>A | CA321920 | WFS1 | c.1543G>A (p.Val515Ile) c.1484G>A c.1507G>A (p.Val503Ile) c.1258G>A (p.Val420Ile) c.1166G>A (p.Arg389His) n.1692G>A c.1516G>A (p.Val506Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301302G>C | CA356175237 | WFS1 | c.1543G>C (p.Val515Leu) c.1484G>C c.1507G>C (p.Val503Leu) c.1258G>C (p.Val420Leu) c.1166G>C (p.Arg389Pro) n.1692G>C c.1516G>C (p.Val506Leu) | gnomAD v4 |
| 4 | g.6301302G= | CA1435773156 | WFS1 | c.1543G= (p.Val515=) c.1484G= c.1507G= (p.Val503=) c.1258G= (p.Val420=) c.1166G= (p.Arg389=) n.1692G= c.1516G= (p.Val506=) | |
| 4 | g.6301302G>T | CA356175234 | WFS1 | c.1543G>T (p.Val515Phe) c.1484G>T c.1507G>T (p.Val503Phe) c.1258G>T (p.Val420Phe) c.1166G>T (p.Arg389Leu) n.1692G>T c.1516G>T (p.Val506Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301303T>A | CA356175239 | WFS1 | c.1544T>A (p.Val515Asp) c.1485T>A c.1508T>A (p.Val503Asp) c.1259T>A (p.Val420Asp) c.1167T>A (p.Arg389=) n.1693T>A c.1517T>A (p.Val506Asp) | |
| 4 | g.6301303T>C | CA356175240 | WFS1 | c.1544T>C (p.Val515Ala) c.1485T>C c.1508T>C (p.Val503Ala) c.1259T>C (p.Val420Ala) c.1167T>C (p.Arg389=) n.1693T>C c.1517T>C (p.Val506Ala) | gnomAD v4 |
| 4 | g.6301303T>G | CA2839384 | WFS1 | c.1544T>G (p.Val515Gly) c.1485T>G c.1508T>G (p.Val503Gly) c.1259T>G (p.Val420Gly) c.1167T>G (p.Arg389=) n.1693T>G c.1517T>G (p.Val506Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301303T= | CA1435773162 | WFS1 | c.1544T= (p.Val515=) c.1485T= c.1508T= (p.Val503=) c.1259T= (p.Val420=) c.1167T= (p.Arg389=) n.1693T= c.1517T= (p.Val506=) | |
| 4 | g.6301304C>A | CA438368400 | WFS1 | c.1545C>A (p.Val515=) c.1486C>A c.1509C>A (p.Val503=) c.1260C>A (p.Val420=) c.1168C>A (p.Pro390Thr) n.1694C>A c.1518C>A (p.Val506=) | |
| 4 | g.6301304C= | CA1435773166 | WFS1 | c.1545C= (p.Val515=) c.1486C= c.1509C= (p.Val503=) c.1260C= (p.Val420=) c.1168C= (p.Pro390=) n.1694C= c.1518C= (p.Val506=) | |
| 4 | g.6301304C>G | CA438368401 | WFS1 | c.1545C>G (p.Val515=) c.1486C>G c.1509C>G (p.Val503=) c.1260C>G (p.Val420=) c.1168C>G (p.Pro390Ala) n.1694C>G c.1518C>G (p.Val506=) | |
| 4 | g.6301304C>T | CA438368402 | WFS1 | c.1545C>T (p.Val515=) c.1486C>T c.1509C>T (p.Val503=) c.1260C>T (p.Val420=) c.1168C>T (p.Pro390Ser) n.1694C>T c.1518C>T (p.Val506=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6301305C>A | CA16621815 | WFS1 | c.1546C>A (p.Pro516Thr) c.1487C>A c.1510C>A (p.Pro504Thr) c.1261C>A (p.Pro421Thr) c.1169C>A (p.Pro390His) n.1695C>A c.1519C>A (p.Pro507Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301305C= | CA1435773170 | WFS1 | c.1546C= (p.Pro516=) c.1487C= c.1510C= (p.Pro504=) c.1261C= (p.Pro421=) c.1169C= (p.Pro390=) n.1695C= c.1519C= (p.Pro507=) | |
| 4 | g.6301305C>G | CA356175765 | WFS1 | c.1546C>G (p.Pro516Ala) c.1487C>G c.1510C>G (p.Pro504Ala) c.1261C>G (p.Pro421Ala) c.1169C>G (p.Pro390Arg) n.1695C>G c.1519C>G (p.Pro507Ala) | dbSNP gnomAD v4 |
| 4 | g.6301305C>T | CA356175767 | WFS1 | c.1546C>T (p.Pro516Ser) c.1487C>T c.1510C>T (p.Pro504Ser) c.1261C>T (p.Pro421Ser) c.1169C>T (p.Pro390Leu) n.1695C>T c.1519C>T (p.Pro507Ser) | gnomAD v4 |
| 4 | g.6301306C>A | CA356175770 | WFS1 | c.1547C>A (p.Pro516Gln) c.1488C>A c.1511C>A (p.Pro504Gln) c.1262C>A (p.Pro421Gln) c.1170C>A (p.Pro390=) n.1696C>A c.1520C>A (p.Pro507Gln) | dbSNP gnomAD v2 |
| 4 | g.6301306C= | CA1435773174 | WFS1 | c.1547C= (p.Pro516=) c.1488C= c.1511C= (p.Pro504=) c.1262C= (p.Pro421=) c.1170C= (p.Pro390=) n.1696C= c.1520C= (p.Pro507=) | |
| 4 | g.6301306C>G | CA356175771 | WFS1 | c.1547C>G (p.Pro516Arg) c.1488C>G c.1511C>G (p.Pro504Arg) c.1262C>G (p.Pro421Arg) c.1170C>G (p.Pro390=) n.1696C>G c.1520C>G (p.Pro507Arg) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301306C>T | CA253190 | WFS1 | c.1547C>T (p.Pro516Leu) c.1488C>T c.1511C>T (p.Pro504Leu) c.1262C>T (p.Pro421Leu) c.1170C>T (p.Pro390=) n.1696C>T c.1520C>T (p.Pro507Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301307G>A | CA2839385 | WFS1 | c.1548G>A (p.Pro516=) c.1489G>A c.1512G>A (p.Pro504=) c.1263G>A (p.Pro421=) c.1171G>A (p.Val391Met) n.1697G>A c.1521G>A (p.Pro507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301307G>C | CA438368414 | WFS1 | c.1548G>C (p.Pro516=) c.1489G>C c.1512G>C (p.Pro504=) c.1263G>C (p.Pro421=) c.1171G>C (p.Val391Leu) n.1697G>C c.1521G>C (p.Pro507=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301307G= | CA1435773182 | WFS1 | c.1548G= (p.Pro516=) c.1489G= c.1512G= (p.Pro504=) c.1263G= (p.Pro421=) c.1171G= (p.Val391=) n.1697G= c.1521G= (p.Pro507=) | |
| 4 | g.6301307G>T | CA438368416 | WFS1 | c.1548G>T (p.Pro516=) c.1489G>T c.1512G>T (p.Pro504=) c.1263G>T (p.Pro421=) c.1171G>T (p.Val391Leu) n.1697G>T c.1521G>T (p.Pro507=) | dbSNP gnomAD v4 |
| 4 | g.6301308T>A | CA356175775 | WFS1 | c.1549T>A (p.Cys517Ser) c.1490T>A c.1513T>A (p.Cys505Ser) c.1264T>A (p.Cys422Ser) c.1172T>A (p.Val391Glu) n.1698T>A c.1522T>A (p.Cys508Ser) | gnomAD v4 |
| 4 | g.6301308T>C | CA356175776 | WFS1 | c.1549T>C (p.Cys517Arg) c.1490T>C c.1513T>C (p.Cys505Arg) c.1264T>C (p.Cys422Arg) c.1172T>C (p.Val391Ala) n.1698T>C c.1522T>C (p.Cys508Arg) | |
| 4 | g.6301308T>G | CA356175778 | WFS1 | c.1549T>G (p.Cys517Gly) c.1490T>G c.1513T>G (p.Cys505Gly) c.1264T>G (p.Cys422Gly) c.1172T>G (p.Val391Gly) n.1698T>G c.1522T>G (p.Cys508Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301308T= | CA1435773185 | WFS1 | c.1549T= (p.Cys517=) c.1490T= c.1513T= (p.Cys505=) c.1264T= (p.Cys422=) c.1172T= (p.Val391=) n.1698T= c.1522T= (p.Cys508=) | |
| 4 | g.6301309_6301323dup | CA2669843441 | WFS1 | c.1550_1564dup (p.Val521_Tyr522insCysLeuLeuTyrVal) c.1491_1505dup c.1514_1528dup (p.Val509_Tyr510insCysLeuLeuTyrVal) c.1265_1279dup (p.Val426_Tyr427insCysLeuLeuTyrVal) c.1173_1187dup (p.Leu396_Pro397insProAlaLeuCysLeu) n.1699_1713dup c.1523_1537dup (p.Val512_Tyr513insCysLeuLeuTyrVal) | gnomAD v4 |
| 4 | g.6301309G>A | CA356175780 | WFS1 | c.1550G>A (p.Cys517Tyr) c.1491G>A c.1514G>A (p.Cys505Tyr) c.1265G>A (p.Cys422Tyr) c.1173G>A (p.Val391=) n.1699G>A c.1523G>A (p.Cys508Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301309G>C | CA2839386 | WFS1 | c.1550G>C (p.Cys517Ser) c.1491G>C c.1514G>C (p.Cys505Ser) c.1265G>C (p.Cys422Ser) c.1173G>C (p.Val391=) n.1699G>C c.1523G>C (p.Cys508Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301309G= | CA1435773195 | WFS1 | c.1550G= (p.Cys517=) c.1491G= c.1514G= (p.Cys505=) c.1265G= (p.Cys422=) c.1173G= (p.Val391=) n.1699G= c.1523G= (p.Cys508=) | |
| 4 | g.6301309G>T | CA356175782 | WFS1 | c.1550G>T (p.Cys517Phe) c.1491G>T c.1514G>T (p.Cys505Phe) c.1265G>T (p.Cys422Phe) c.1173G>T (p.Val391=) n.1699G>T c.1523G>T (p.Cys508Phe) | dbSNP gnomAD v4 |
| 4 | g.6301309_6301324delinsGCCTGCTCTATGTCTA | CA1435773197 | WFS1 | c.1550_1565delinsGCCTGCTCTATGTCTA (p.Cys517=) c.1491_1506delinsGCCTGCTCTATGTCTA c.1514_1529delinsGCCTGCTCTATGTCTA (p.Cys505=) c.1265_1280delinsGCCTGCTCTATGTCTA (p.Cys422=) c.1173_1188delinsGCCTGCTCTATGTCTA (p.Val391=) n.1699_1714delinsGCCTGCTCTATGTCTA c.1523_1538delinsGCCTGCTCTATGTCTA (p.Cys508=) | |
| 4 | g.6301310C>A | CA356175784 | WFS1 | c.1551C>A (p.Cys517Ter) c.1492C>A c.1515C>A (p.Cys505Ter) c.1266C>A (p.Cys422Ter) c.1174C>A (p.Pro392Thr) n.1700C>A c.1524C>A (p.Cys508Ter) | |
| 4 | g.6301310C>G | CA356175786 | WFS1 | c.1551C>G (p.Cys517Trp) c.1492C>G c.1515C>G (p.Cys505Trp) c.1266C>G (p.Cys422Trp) c.1174C>G (p.Pro392Ala) n.1700C>G c.1524C>G (p.Cys508Trp) | |
| 4 | g.6301310C>T | CA438368419 | WFS1 | c.1551C>T (p.Cys517=) c.1492C>T c.1515C>T (p.Cys505=) c.1266C>T (p.Cys422=) c.1174C>T (p.Pro392Ser) n.1700C>T c.1524C>T (p.Cys508=) | gnomAD v4 |
| 4 | g.6301320_6301334dup | CA549707910 | WFS1 | c.1561_1575dup (p.Tyr525_Leu526insValTyrLeuLeuTyr) c.1502_1516dup c.1525_1539dup (p.Tyr513_Leu514insValTyrLeuLeuTyr) c.1276_1290dup (p.Tyr430_Leu431insValTyrLeuLeuTyr) c.1184_1198dup (p.Leu399_Ser400insCysLeuProAlaLeu) n.1710_1724dup c.1534_1548dup (p.Tyr516_Leu517insValTyrLeuLeuTyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301320_6301334del | CA2839387 | WFS1 | c.1561_1575del (p.Val521_Tyr525del) c.1502_1516del c.1525_1539del (p.Val509_Tyr513del) c.1276_1290del (p.Val426_Tyr430del) c.1184_1198del (p.Cys395_Leu399del) n.1710_1724del c.1534_1548del (p.Val512_Tyr516del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301311C>A | CA356175788 | WFS1 | c.1552C>A (p.Leu518Met) c.1493C>A c.1516C>A (p.Leu506Met) c.1267C>A (p.Leu423Met) c.1175C>A (p.Pro392His) n.1701C>A c.1525C>A (p.Leu509Met) | |
| 4 | g.6301311C= | CA1435773206 | WFS1 | c.1552C= (p.Leu518=) c.1493C= c.1516C= (p.Leu506=) c.1267C= (p.Leu423=) c.1175C= (p.Pro392=) n.1701C= c.1525C= (p.Leu509=) | |
| 4 | g.6301311C>G | CA356175789 | WFS1 | c.1552C>G (p.Leu518Val) c.1493C>G c.1516C>G (p.Leu506Val) c.1267C>G (p.Leu423Val) c.1175C>G (p.Pro392Arg) n.1701C>G c.1525C>G (p.Leu509Val) | |
| 4 | g.6301311C>T | CA438368423 | WFS1 | c.1552C>T (p.Leu518=) c.1493C>T c.1516C>T (p.Leu506=) c.1267C>T (p.Leu423=) c.1175C>T (p.Pro392Leu) n.1701C>T c.1525C>T (p.Leu509=) | dbSNP gnomAD v4 |
| 4 | g.6301312T>A | CA356175791 | WFS1 | c.1553T>A (p.Leu518Gln) c.1494T>A c.1517T>A (p.Leu506Gln) c.1268T>A (p.Leu423Gln) c.1176T>A (p.Pro392=) n.1702T>A c.1526T>A (p.Leu509Gln) | |
| 4 | g.6301312T>C | CA356175793 | WFS1 | c.1553T>C (p.Leu518Pro) c.1494T>C c.1517T>C (p.Leu506Pro) c.1268T>C (p.Leu423Pro) c.1176T>C (p.Pro392=) n.1702T>C c.1526T>C (p.Leu509Pro) | |
| 4 | g.6301312T>G | CA356175794 | WFS1 | c.1553T>G (p.Leu518Arg) c.1494T>G c.1517T>G (p.Leu506Arg) c.1268T>G (p.Leu423Arg) c.1176T>G (p.Pro392=) n.1702T>G c.1526T>G (p.Leu509Arg) | |
| 4 | g.6301313G>A | CA91796314 | WFS1 | c.1554G>A (p.Leu518=) c.1495G>A c.1518G>A (p.Leu506=) c.1269G>A (p.Leu423=) c.1177G>A (p.Ala393Thr) n.1703G>A c.1527G>A (p.Leu509=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301313G>C | CA438368429 | WFS1 | c.1554G>C (p.Leu518=) c.1495G>C c.1518G>C (p.Leu506=) c.1269G>C (p.Leu423=) c.1177G>C (p.Ala393Pro) n.1703G>C c.1527G>C (p.Leu509=) | gnomAD v4 |
| 4 | g.6301313G= | CA1435773212 | WFS1 | c.1554G= (p.Leu518=) c.1495G= c.1518G= (p.Leu506=) c.1269G= (p.Leu423=) c.1177G= (p.Ala393=) n.1703G= c.1527G= (p.Leu509=) | |
| 4 | g.6301313G>T | CA438368432 | WFS1 | c.1554G>T (p.Leu518=) c.1495G>T c.1518G>T (p.Leu506=) c.1269G>T (p.Leu423=) c.1177G>T (p.Ala393Ser) n.1703G>T c.1527G>T (p.Leu509=) | gnomAD v4 |
| 4 | g.6301314C>A | CA356175798 | WFS1 | c.1555C>A (p.Leu519Ile) c.1496C>A c.1519C>A (p.Leu507Ile) c.1270C>A (p.Leu424Ile) c.1178C>A (p.Ala393Asp) n.1704C>A c.1528C>A (p.Leu510Ile) | |
| 4 | g.6301314C= | CA1435773214 | WFS1 | c.1555C= (p.Leu519=) c.1496C= c.1519C= (p.Leu507=) c.1270C= (p.Leu424=) c.1178C= (p.Ala393=) n.1704C= c.1528C= (p.Leu510=) | |
| 4 | g.6301314C>G | CA356175799 | WFS1 | c.1555C>G (p.Leu519Val) c.1496C>G c.1519C>G (p.Leu507Val) c.1270C>G (p.Leu424Val) c.1178C>G (p.Ala393Gly) n.1704C>G c.1528C>G (p.Leu510Val) | |
| 4 | g.6301314C>T | CA356175801 | WFS1 | c.1555C>T (p.Leu519Phe) c.1496C>T c.1519C>T (p.Leu507Phe) c.1270C>T (p.Leu424Phe) c.1178C>T (p.Ala393Val) n.1704C>T c.1528C>T (p.Leu510Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301315T>A | CA356175806 | WFS1 | c.1556T>A (p.Leu519His) c.1497T>A c.1520T>A (p.Leu507His) c.1271T>A (p.Leu424His) c.1179T>A (p.Ala393=) n.1705T>A c.1529T>A (p.Leu510His) | |
| 4 | g.6301315T>C | CA91796320 | WFS1 | c.1556T>C (p.Leu519Pro) c.1497T>C c.1520T>C (p.Leu507Pro) c.1271T>C (p.Leu424Pro) c.1179T>C (p.Ala393=) n.1705T>C c.1529T>C (p.Leu510Pro) | dbSNP |
| 4 | g.6301315T>G | CA356175803 | WFS1 | c.1556T>G (p.Leu519Arg) c.1497T>G c.1520T>G (p.Leu507Arg) c.1271T>G (p.Leu424Arg) c.1179T>G (p.Ala393=) n.1705T>G c.1529T>G (p.Leu510Arg) | |
| 4 | g.6301315T= | CA1435773215 | WFS1 | c.1556T= (p.Leu519=) c.1497T= c.1520T= (p.Leu507=) c.1271T= (p.Leu424=) c.1179T= (p.Ala393=) n.1705T= c.1529T= (p.Leu510=) | |
| 4 | g.6301316C>A | CA438368438 | WFS1 | c.1557C>A (p.Leu519=) c.1498C>A c.1521C>A (p.Leu507=) c.1272C>A (p.Leu424=) c.1180C>A (p.Leu394Ile) n.1706C>A c.1530C>A (p.Leu510=) | |
| 4 | g.6301316C= | CA1435773217 | WFS1 | c.1557C= (p.Leu519=) c.1498C= c.1521C= (p.Leu507=) c.1272C= (p.Leu424=) c.1180C= (p.Leu394=) n.1706C= c.1530C= (p.Leu510=) | |
| 4 | g.6301316C>G | CA2839389 | WFS1 | c.1557C>G (p.Leu519=) c.1498C>G c.1521C>G (p.Leu507=) c.1272C>G (p.Leu424=) c.1180C>G (p.Leu394Val) n.1706C>G c.1530C>G (p.Leu510=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301316C>T | CA438368439 | WFS1 | c.1557C>T (p.Leu519=) c.1498C>T c.1521C>T (p.Leu507=) c.1272C>T (p.Leu424=) c.1180C>T (p.Leu394=) n.1706C>T c.1530C>T (p.Leu510=) | gnomAD v2 gnomAD v4 |
| 4 | g.6301316_6301318delinsCTA | CA1435773219 | WFS1 | c.1557_1559delinsCTA (p.Leu519=) c.1498_1500delinsCTA c.1521_1523delinsCTA (p.Leu507=) c.1272_1274delinsCTA (p.Leu424=) c.1180_1182delinsCTA (p.Leu394=) n.1706_1708delinsCTA c.1530_1532delinsCTA (p.Leu510=) | |
| 4 | g.6301317T>A | CA356175808 | WFS1 | c.1558T>A (p.Tyr520Asn) c.1499T>A c.1522T>A (p.Tyr508Asn) c.1273T>A (p.Tyr425Asn) c.1181T>A (p.Leu394Gln) n.1707T>A c.1531T>A (p.Tyr511Asn) | |
| 4 | g.6301317T>C | CA356175811 | WFS1 | c.1558T>C (p.Tyr520His) c.1499T>C c.1522T>C (p.Tyr508His) c.1273T>C (p.Tyr425His) c.1181T>C (p.Leu394Pro) n.1707T>C c.1531T>C (p.Tyr511His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301317T>G | CA356175813 | WFS1 | c.1558T>G (p.Tyr520Asp) c.1499T>G c.1522T>G (p.Tyr508Asp) c.1273T>G (p.Tyr425Asp) c.1181T>G (p.Leu394Arg) n.1707T>G c.1531T>G (p.Tyr511Asp) | |
| 4 | g.6301317T= | CA1435773227 | WFS1 | c.1558T= (p.Tyr520=) c.1499T= c.1522T= (p.Tyr508=) c.1273T= (p.Tyr425=) c.1181T= (p.Leu394=) n.1707T= c.1531T= (p.Tyr511=) | |
| 4 | g.6301318_6301319del | CA2839388 | WFS1 | c.1559_1560del (p.Tyr520CysfsTer?) c.1500_1501del c.1523_1524del (p.Tyr508CysfsTer?) c.1274_1275del (p.Tyr425CysfsTer?) c.1182_1183del (p.Cys395SerfsTer13) n.1708_1709del c.1532_1533del (p.Tyr511CysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301318A= | CA1435773233 | WFS1 | c.1559A= (p.Tyr520=) c.1500A= c.1523A= (p.Tyr508=) c.1274A= (p.Tyr425=) c.1182A= (p.Leu394=) n.1708A= c.1532A= (p.Tyr511=) | |
| 4 | g.6301318A>C | CA356175815 | WFS1 | c.1559A>C (p.Tyr520Ser) c.1500A>C c.1523A>C (p.Tyr508Ser) c.1274A>C (p.Tyr425Ser) c.1182A>C (p.Leu394=) n.1708A>C c.1532A>C (p.Tyr511Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301318A>G | CA356175816 | WFS1 | c.1559A>G (p.Tyr520Cys) c.1500A>G c.1523A>G (p.Tyr508Cys) c.1274A>G (p.Tyr425Cys) c.1182A>G (p.Leu394=) n.1708A>G c.1532A>G (p.Tyr511Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301318A>T | CA356175817 | WFS1 | c.1559A>T (p.Tyr520Phe) c.1500A>T c.1523A>T (p.Tyr508Phe) c.1274A>T (p.Tyr425Phe) c.1182A>T (p.Leu394=) n.1708A>T c.1532A>T (p.Tyr511Phe) | |
| 4 | g.6301319T>A | CA356175819 | WFS1 | c.1560T>A (p.Tyr520Ter) c.1501T>A c.1524T>A (p.Tyr508Ter) c.1275T>A (p.Tyr425Ter) c.1183T>A (p.Cys395Ser) n.1709T>A c.1533T>A (p.Tyr511Ter) | |
| 4 | g.6301319T>C | CA438368449 | WFS1 | c.1560T>C (p.Tyr520=) c.1501T>C c.1524T>C (p.Tyr508=) c.1275T>C (p.Tyr425=) c.1183T>C (p.Cys395Arg) n.1709T>C c.1533T>C (p.Tyr511=) | gnomAD v4 |
| 4 | g.6301319T>G | CA356175820 | WFS1 | c.1560T>G (p.Tyr520Ter) c.1501T>G c.1524T>G (p.Tyr508Ter) c.1275T>G (p.Tyr425Ter) c.1183T>G (p.Cys395Gly) n.1709T>G c.1533T>G (p.Tyr511Ter) | |
| 4 | g.6301320_6301332del | CA2586973626 | WFS1 | c.1561_1573del (p.Val521IlefsTer9) c.1502_1514del c.1525_1537del (p.Val509IlefsTer9) c.1276_1288del (p.Val426IlefsTer9) c.1184_1196del (p.Cys395TyrfsTer?) n.1710_1722del c.1534_1546del (p.Val512IlefsTer9) | |
| 4 | g.6301319_6301320insA | CA2760285106 | WFS1 | c.1560_1561insA (p.Val521SerfsTer?) c.1501_1502insA c.1524_1525insA (p.Val509SerfsTer?) c.1275_1276insA (p.Val426SerfsTer?) c.1183_1184insA (p.Cys395Ter) n.1709_1710insA c.1533_1534insA (p.Val512SerfsTer?) | |
| 4 | g.6301320G>A | CA356175823 | WFS1 | c.1561G>A (p.Val521Ile) c.1502G>A c.1525G>A (p.Val509Ile) c.1276G>A (p.Val426Ile) c.1184G>A (p.Cys395Tyr) n.1710G>A c.1534G>A (p.Val512Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301320G>C | CA356175824 | WFS1 | c.1561G>C (p.Val521Leu) c.1502G>C c.1525G>C (p.Val509Leu) c.1276G>C (p.Val426Leu) c.1184G>C (p.Cys395Ser) n.1710G>C c.1534G>C (p.Val512Leu) | gnomAD v4 |
| 4 | g.6301320G= | CA1435773240 | WFS1 | c.1561G= (p.Val521=) c.1502G= c.1525G= (p.Val509=) c.1276G= (p.Val426=) c.1184G= (p.Cys395=) n.1710G= c.1534G= (p.Val512=) | |
| 4 | g.6301320G>T | CA356175825 | WFS1 | c.1561G>T (p.Val521Phe) c.1502G>T c.1525G>T (p.Val509Phe) c.1276G>T (p.Val426Phe) c.1184G>T (p.Cys395Phe) n.1710G>T c.1534G>T (p.Val512Phe) | gnomAD v4 |
| 4 | g.6301320_6301335delinsGTCTACCTGCTCTATC | CA1435773239 | WFS1 | c.1561_1576delinsGTCTACCTGCTCTATC (p.Val521=) c.1502_1517delinsGTCTACCTGCTCTATC c.1525_1540delinsGTCTACCTGCTCTATC (p.Val509=) c.1276_1291delinsGTCTACCTGCTCTATC (p.Val426=) c.1184_1199delinsGTCTACCTGCTCTATC (p.Cys395=) n.1710_1725delinsGTCTACCTGCTCTATC c.1534_1549delinsGTCTACCTGCTCTATC (p.Val512=) | |
| 4 | g.6301320_6301335dup | CA2586973627 | WFS1 | c.1561_1576dup (p.Leu526ArgfsTer34) c.1502_1517dup c.1525_1540dup (p.Leu514ArgfsTer34) c.1276_1291dup (p.Leu431ArgfsTer34) c.1184_1199dup (p.Leu401SerfsTer13) n.1710_1725dup c.1534_1549dup (p.Leu517ArgfsTer34) | |
| 4 | g.6301321T>A | CA356175831 | WFS1 | c.1562T>A (p.Val521Asp) c.1503T>A c.1526T>A (p.Val509Asp) c.1277T>A (p.Val426Asp) c.1185T>A (p.Cys395Ter) n.1711T>A c.1535T>A (p.Val512Asp) | |
| 4 | g.6301321T>C | CA356175828 | WFS1 | c.1562T>C (p.Val521Ala) c.1503T>C c.1526T>C (p.Val509Ala) c.1277T>C (p.Val426Ala) c.1185T>C (p.Cys395=) n.1711T>C c.1535T>C (p.Val512Ala) | |
| 4 | g.6301321T>G | CA2839391 | WFS1 | c.1562T>G (p.Val521Gly) c.1503T>G c.1526T>G (p.Val509Gly) c.1277T>G (p.Val426Gly) c.1185T>G (p.Cys395Trp) n.1711T>G c.1535T>G (p.Val512Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6301321T= | CA1435773241 | WFS1 | c.1562T= (p.Val521=) c.1503T= c.1526T= (p.Val509=) c.1277T= (p.Val426=) c.1185T= (p.Cys395=) n.1711T= c.1535T= (p.Val512=) | |
| 4 | g.6301324_6301338del | CA2839390 | WFS1 | c.1565_1579del (p.Tyr522_Leu526del) c.1506_1520del c.1529_1543del (p.Tyr510_Leu514del) c.1280_1294del (p.Tyr427_Leu431del) c.1188_1202del (p.Pro397_Leu401del) n.1714_1728del c.1538_1552del (p.Tyr513_Leu517del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301322C>A | CA438368460 | WFS1 | c.1563C>A (p.Val521=) c.1504C>A c.1527C>A (p.Val509=) c.1278C>A (p.Val426=) c.1186C>A (p.Leu396Ile) n.1712C>A c.1536C>A (p.Val512=) | |
| 4 | g.6301322C= | CA1435773245 | WFS1 | c.1563C= (p.Val521=) c.1504C= c.1527C= (p.Val509=) c.1278C= (p.Val426=) c.1186C= (p.Leu396=) n.1712C= c.1536C= (p.Val512=) | |
| 4 | g.6301322C>G | CA2839392 | WFS1 | c.1563C>G (p.Val521=) c.1504C>G c.1527C>G (p.Val509=) c.1278C>G (p.Val426=) c.1186C>G (p.Leu396Val) n.1712C>G c.1536C>G (p.Val512=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301322C>T | CA438368465 | WFS1 | c.1563C>T (p.Val521=) c.1504C>T c.1527C>T (p.Val509=) c.1278C>T (p.Val426=) c.1186C>T (p.Leu396=) n.1712C>T c.1536C>T (p.Val512=) | dbSNP |
| 4 | g.6301323T>A | CA356175833 | WFS1 | c.1564T>A (p.Tyr522Asn) c.1505T>A c.1528T>A (p.Tyr510Asn) c.1279T>A (p.Tyr427Asn) c.1187T>A (p.Leu396Gln) n.1713T>A c.1537T>A (p.Tyr513Asn) | |
| 4 | g.6301323T>C | CA356175834 | WFS1 | c.1564T>C (p.Tyr522His) c.1505T>C c.1528T>C (p.Tyr510His) c.1279T>C (p.Tyr427His) c.1187T>C (p.Leu396Pro) n.1713T>C c.1537T>C (p.Tyr513His) | gnomAD v4 |
| 4 | g.6301323T>G | CA356175836 | WFS1 | c.1564T>G (p.Tyr522Asp) c.1505T>G c.1528T>G (p.Tyr510Asp) c.1279T>G (p.Tyr427Asp) c.1187T>G (p.Leu396Arg) n.1713T>G c.1537T>G (p.Tyr513Asp) | gnomAD v4 |
| 4 | g.6301324A= | CA1435773246 | WFS1 | c.1565A= (p.Tyr522=) c.1506A= c.1529A= (p.Tyr510=) c.1280A= (p.Tyr427=) c.1188A= (p.Leu396=) n.1714A= c.1538A= (p.Tyr513=) | |
| 4 | g.6301324A>C | CA356175837 | WFS1 | c.1565A>C (p.Tyr522Ser) c.1506A>C c.1529A>C (p.Tyr510Ser) c.1280A>C (p.Tyr427Ser) c.1188A>C (p.Leu396=) n.1714A>C c.1538A>C (p.Tyr513Ser) | gnomAD v4 |
| 4 | g.6301324A>G | CA2839393 | WFS1 | c.1565A>G (p.Tyr522Cys) c.1506A>G c.1529A>G (p.Tyr510Cys) c.1280A>G (p.Tyr427Cys) c.1188A>G (p.Leu396=) n.1714A>G c.1538A>G (p.Tyr513Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301324A>T | CA356175839 | WFS1 | c.1565A>T (p.Tyr522Phe) c.1506A>T c.1529A>T (p.Tyr510Phe) c.1280A>T (p.Tyr427Phe) c.1188A>T (p.Leu396=) n.1714A>T c.1538A>T (p.Tyr513Phe) | gnomAD v4 |
| 4 | g.6301325C>A | CA356175842 | WFS1 | c.1566C>A (p.Tyr522Ter) c.1507C>A c.1530C>A (p.Tyr510Ter) c.1281C>A (p.Tyr427Ter) c.1189C>A (p.Pro397Thr) n.1715C>A c.1539C>A (p.Tyr513Ter) | |
| 4 | g.6301325C= | CA1435773248 | WFS1 | c.1566C= (p.Tyr522=) c.1507C= c.1530C= (p.Tyr510=) c.1281C= (p.Tyr427=) c.1189C= (p.Pro397=) n.1715C= c.1539C= (p.Tyr513=) | |
| 4 | g.6301325C>G | CA356175843 | WFS1 | c.1566C>G (p.Tyr522Ter) c.1507C>G c.1530C>G (p.Tyr510Ter) c.1281C>G (p.Tyr427Ter) c.1189C>G (p.Pro397Ala) n.1715C>G c.1539C>G (p.Tyr513Ter) | ClinVar gnomAD v4 |
| 4 | g.6301325C>T | CA179653 | WFS1 | c.1566C>T (p.Tyr522=) c.1507C>T c.1530C>T (p.Tyr510=) c.1281C>T (p.Tyr427=) c.1189C>T (p.Pro397Ser) n.1715C>T c.1539C>T (p.Tyr513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301326C>A | CA356175847 | WFS1 | c.1567C>A (p.Leu523Met) c.1508C>A c.1531C>A (p.Leu511Met) c.1282C>A (p.Leu428Met) c.1190C>A (p.Pro397His) n.1716C>A c.1540C>A (p.Leu514Met) | |
| 4 | g.6301326C= | CA1435773250 | WFS1 | c.1567C= (p.Leu523=) c.1508C= c.1531C= (p.Leu511=) c.1282C= (p.Leu428=) c.1190C= (p.Pro397=) n.1716C= c.1540C= (p.Leu514=) | |
| 4 | g.6301326C>G | CA356175845 | WFS1 | c.1567C>G (p.Leu523Val) c.1508C>G c.1531C>G (p.Leu511Val) c.1282C>G (p.Leu428Val) c.1190C>G (p.Pro397Arg) n.1716C>G c.1540C>G (p.Leu514Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301326C>T | CA2839394 | WFS1 | c.1567C>T (p.Leu523=) c.1508C>T c.1531C>T (p.Leu511=) c.1282C>T (p.Leu428=) c.1190C>T (p.Pro397Leu) n.1716C>T c.1540C>T (p.Leu514=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301327T>A | CA356175848 | WFS1 | c.1568T>A (p.Leu523Gln) c.1509T>A c.1532T>A (p.Leu511Gln) c.1283T>A (p.Leu428Gln) c.1191T>A (p.Pro397=) n.1717T>A c.1541T>A (p.Leu514Gln) | |
| 4 | g.6301327T>C | CA356175851 | WFS1 | c.1568T>C (p.Leu523Pro) c.1509T>C c.1532T>C (p.Leu511Pro) c.1283T>C (p.Leu428Pro) c.1191T>C (p.Pro397=) n.1717T>C c.1541T>C (p.Leu514Pro) | gnomAD v4 |
| 4 | g.6301327T>G | CA356175849 | WFS1 | c.1568T>G (p.Leu523Arg) c.1509T>G c.1532T>G (p.Leu511Arg) c.1283T>G (p.Leu428Arg) c.1191T>G (p.Pro397=) n.1717T>G c.1541T>G (p.Leu514Arg) | |
| 4 | g.6301328G>A | CA438368473 | WFS1 | c.1569G>A (p.Leu523=) c.1510G>A c.1533G>A (p.Leu511=) c.1284G>A (p.Leu428=) c.1192G>A (p.Ala398Thr) n.1718G>A c.1542G>A (p.Leu514=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301328G>C | CA438368475 | WFS1 | c.1569G>C (p.Leu523=) c.1510G>C c.1533G>C (p.Leu511=) c.1284G>C (p.Leu428=) c.1192G>C (p.Ala398Pro) n.1718G>C c.1542G>C (p.Leu514=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301328G= | CA1435773253 | WFS1 | c.1569G= (p.Leu523=) c.1510G= c.1533G= (p.Leu511=) c.1284G= (p.Leu428=) c.1192G= (p.Ala398=) n.1718G= c.1542G= (p.Leu514=) | |
| 4 | g.6301328G>T | CA438368476 | WFS1 | c.1569G>T (p.Leu523=) c.1510G>T c.1533G>T (p.Leu511=) c.1284G>T (p.Leu428=) c.1192G>T (p.Ala398Ser) n.1718G>T c.1542G>T (p.Leu514=) | |
| 4 | g.6301329C>A | CA356175854 | WFS1 | c.1570C>A (p.Leu524Ile) c.1511C>A c.1534C>A (p.Leu512Ile) c.1285C>A (p.Leu429Ile) c.1193C>A (p.Ala398Asp) n.1719C>A c.1543C>A (p.Leu515Ile) | |
| 4 | g.6301329C>G | CA356175855 | WFS1 | c.1570C>G (p.Leu524Val) c.1511C>G c.1534C>G (p.Leu512Val) c.1285C>G (p.Leu429Val) c.1193C>G (p.Ala398Gly) n.1719C>G c.1543C>G (p.Leu515Val) | |
| 4 | g.6301329C>T | CA356175857 | WFS1 | c.1570C>T (p.Leu524Phe) c.1511C>T c.1534C>T (p.Leu512Phe) c.1285C>T (p.Leu429Phe) c.1193C>T (p.Ala398Val) n.1719C>T c.1543C>T (p.Leu515Phe) | gnomAD v4 |
| 4 | g.6301330T>A | CA356175859 | WFS1 | c.1571T>A (p.Leu524His) c.1512T>A c.1535T>A (p.Leu512His) c.1286T>A (p.Leu429His) c.1194T>A (p.Ala398=) n.1720T>A c.1544T>A (p.Leu515His) | |
| 4 | g.6301330T>C | CA356175861 | WFS1 | c.1571T>C (p.Leu524Pro) c.1512T>C c.1535T>C (p.Leu512Pro) c.1286T>C (p.Leu429Pro) c.1194T>C (p.Ala398=) n.1720T>C c.1544T>C (p.Leu515Pro) | gnomAD v4 |
| 4 | g.6301330T>G | CA356175862 | WFS1 | c.1571T>G (p.Leu524Arg) c.1512T>G c.1535T>G (p.Leu512Arg) c.1286T>G (p.Leu429Arg) c.1194T>G (p.Ala398=) n.1720T>G c.1544T>G (p.Leu515Arg) | |
| 4 | g.6301331C>A | CA438368484 | WFS1 | c.1572C>A (p.Leu524=) c.1513C>A c.1536C>A (p.Leu512=) c.1287C>A (p.Leu429=) c.1195C>A (p.Leu399Ile) n.1721C>A c.1545C>A (p.Leu515=) | |
| 4 | g.6301331C= | CA1435773258 | WFS1 | c.1572C= (p.Leu524=) c.1513C= c.1536C= (p.Leu512=) c.1287C= (p.Leu429=) c.1195C= (p.Leu399=) n.1721C= c.1545C= (p.Leu515=) | |
| 4 | g.6301331C>G | CA91796333 | WFS1 | c.1572C>G (p.Leu524=) c.1513C>G c.1536C>G (p.Leu512=) c.1287C>G (p.Leu429=) c.1195C>G (p.Leu399Val) n.1721C>G c.1545C>G (p.Leu515=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301331C>T | CA438368488 | WFS1 | c.1572C>T (p.Leu524=) c.1513C>T c.1536C>T (p.Leu512=) c.1287C>T (p.Leu429=) c.1195C>T (p.Leu399=) n.1721C>T c.1545C>T (p.Leu515=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301331_6301344dup | CA2695199363 | WFS1 | c.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 |
| 4 | g.6301332T>A | CA356175864 | WFS1 | c.1573T>A (p.Tyr525Asn) c.1514T>A c.1537T>A (p.Tyr513Asn) c.1288T>A (p.Tyr430Asn) c.1196T>A (p.Leu399Gln) n.1722T>A c.1546T>A (p.Tyr516Asn) | |
| 4 | g.6301332T>C | CA356175866 | WFS1 | c.1573T>C (p.Tyr525His) c.1514T>C c.1537T>C (p.Tyr513His) c.1288T>C (p.Tyr430His) c.1196T>C (p.Leu399Pro) n.1722T>C c.1546T>C (p.Tyr516His) | gnomAD v4 |
| 4 | g.6301332T>G | CA356175868 | WFS1 | c.1573T>G (p.Tyr525Asp) c.1514T>G c.1537T>G (p.Tyr513Asp) c.1288T>G (p.Tyr430Asp) c.1196T>G (p.Leu399Arg) n.1722T>G c.1546T>G (p.Tyr516Asp) | |
| 4 | g.6301333_6301334del | CA2586973628 | WFS1 | c.1574_1575del (p.Tyr525SerfsTer29) c.1515_1516del c.1538_1539del (p.Tyr513SerfsTer29) c.1289_1290del (p.Tyr430SerfsTer29) c.1197_1198del (p.Leu401SerfsTer7) n.1723_1724del c.1547_1548del (p.Tyr516SerfsTer29) | |
| 4 | g.6301333A= | CA1435773264 | WFS1 | c.1574A= (p.Tyr525=) c.1515A= c.1538A= (p.Tyr513=) c.1289A= (p.Tyr430=) c.1197A= (p.Leu399=) n.1723A= c.1547A= (p.Tyr516=) | |
| 4 | g.6301333A>C | CA321251 | WFS1 | c.1574A>C (p.Tyr525Ser) c.1515A>C c.1538A>C (p.Tyr513Ser) c.1289A>C (p.Tyr430Ser) c.1197A>C (p.Leu399=) n.1723A>C c.1547A>C (p.Tyr516Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301333A>G | CA2839395 | WFS1 | c.1574A>G (p.Tyr525Cys) c.1515A>G c.1538A>G (p.Tyr513Cys) c.1289A>G (p.Tyr430Cys) c.1197A>G (p.Leu399=) n.1723A>G c.1547A>G (p.Tyr516Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301333A>T | CA356175869 | WFS1 | c.1574A>T (p.Tyr525Phe) c.1515A>T c.1538A>T (p.Tyr513Phe) c.1289A>T (p.Tyr430Phe) c.1197A>T (p.Leu399=) n.1723A>T c.1547A>T (p.Tyr516Phe) | |
| 4 | g.6301334T>A | CA356175873 | WFS1 | c.1575T>A (p.Tyr525Ter) c.1516T>A c.1539T>A (p.Tyr513Ter) c.1290T>A (p.Tyr430Ter) c.1198T>A (p.Ser400Thr) n.1724T>A c.1548T>A (p.Tyr516Ter) | |
| 4 | g.6301334T>C | CA438368496 | WFS1 | c.1575T>C (p.Tyr525=) c.1516T>C c.1539T>C (p.Tyr513=) c.1290T>C (p.Tyr430=) c.1198T>C (p.Ser400Pro) n.1724T>C c.1548T>C (p.Tyr516=) | gnomAD v4 |
| 4 | g.6301334T>G | CA356175874 | WFS1 | c.1575T>G (p.Tyr525Ter) c.1516T>G c.1539T>G (p.Tyr513Ter) c.1290T>G (p.Tyr430Ter) c.1198T>G (p.Ser400Ala) n.1724T>G c.1548T>G (p.Tyr516Ter) | |
| 4 | g.6301335C>A | CA356175877 | WFS1 | c.1576C>A (p.Leu526Ile) c.1517C>A c.1540C>A (p.Leu514Ile) c.1291C>A (p.Leu431Ile) c.1199C>A (p.Ser400Tyr) n.1725C>A c.1549C>A (p.Leu517Ile) | gnomAD v2 |
| 4 | g.6301335C= | CA1435773270 | WFS1 | c.1576C= (p.Leu526=) c.1517C= c.1540C= (p.Leu514=) c.1291C= (p.Leu431=) c.1199C= (p.Ser400=) n.1725C= c.1549C= (p.Leu517=) | |
| 4 | g.6301335C>G | CA356175878 | WFS1 | c.1576C>G (p.Leu526Val) c.1517C>G c.1540C>G (p.Leu514Val) c.1291C>G (p.Leu431Val) c.1199C>G (p.Ser400Cys) n.1725C>G c.1549C>G (p.Leu517Val) | dbSNP |
| 4 | g.6301335C>T | CA2839397 | WFS1 | c.1576C>T (p.Leu526Phe) c.1517C>T c.1540C>T (p.Leu514Phe) c.1291C>T (p.Leu431Phe) c.1199C>T (p.Ser400Phe) n.1725C>T c.1549C>T (p.Leu517Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301335_6301338delinsCTCT | CA1435773268 | WFS1 | c.1576_1579delinsCTCT (p.Leu526=) c.1517_1520delinsCTCT c.1540_1543delinsCTCT (p.Leu514=) c.1291_1294delinsCTCT (p.Leu431=) c.1199_1202delinsCTCT (p.Ser400=) n.1725_1728delinsCTCT c.1549_1552delinsCTCT (p.Leu517=) | |
| 4 | g.6301336T>A | CA356175881 | WFS1 | c.1577T>A (p.Leu526His) c.1518T>A c.1541T>A (p.Leu514His) c.1292T>A (p.Leu431His) c.1200T>A (p.Ser400=) n.1726T>A c.1550T>A (p.Leu517His) | |
| 4 | g.6301336T>C | CA356175883 | WFS1 | c.1577T>C (p.Leu526Pro) c.1518T>C c.1541T>C (p.Leu514Pro) c.1292T>C (p.Leu431Pro) c.1200T>C (p.Ser400=) n.1726T>C c.1550T>C (p.Leu517Pro) | |
| 4 | g.6301336T>G | CA356175884 | WFS1 | c.1577T>G (p.Leu526Arg) c.1518T>G c.1541T>G (p.Leu514Arg) c.1292T>G (p.Leu431Arg) c.1200T>G (p.Ser400=) n.1726T>G c.1550T>G (p.Leu517Arg) | |
| 4 | g.6301341_6301343del | CA2839396 | WFS1 | c.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 |
| 4 | g.6301337C>A | CA438368506 | WFS1 | c.1578C>A (p.Leu526=) c.1519C>A c.1542C>A (p.Leu514=) c.1293C>A (p.Leu431=) c.1201C>A (p.Leu401Ile) n.1727C>A c.1551C>A (p.Leu517=) | |
| 4 | g.6301337C= | CA1435773273 | WFS1 | c.1578C= (p.Leu526=) c.1519C= c.1542C= (p.Leu514=) c.1293C= (p.Leu431=) c.1201C= (p.Leu401=) n.1727C= c.1551C= (p.Leu517=) | |
| 4 | g.6301337C>G | CA438368507 | WFS1 | c.1578C>G (p.Leu526=) c.1519C>G c.1542C>G (p.Leu514=) c.1293C>G (p.Leu431=) c.1201C>G (p.Leu401Val) n.1727C>G c.1551C>G (p.Leu517=) | COSMIC |
| 4 | g.6301337C>T | CA438368508 | WFS1 | c.1578C>T (p.Leu526=) c.1519C>T c.1542C>T (p.Leu514=) c.1293C>T (p.Leu431=) c.1201C>T (p.Leu401Phe) n.1727C>T c.1551C>T (p.Leu517=) | dbSNP gnomAD v4 |
| 4 | g.6301338T>A | CA356175887 | WFS1 | c.1579T>A (p.Phe527Ile) c.1520T>A c.1543T>A (p.Phe515Ile) c.1294T>A (p.Phe432Ile) c.1202T>A (p.Leu401His) n.1728T>A c.1552T>A (p.Phe518Ile) | |
| 4 | g.6301338T>C | CA356175888 | WFS1 | c.1579T>C (p.Phe527Leu) c.1520T>C c.1543T>C (p.Phe515Leu) c.1294T>C (p.Phe432Leu) c.1202T>C (p.Leu401Pro) n.1728T>C c.1552T>C (p.Phe518Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301338T>G | CA356175890 | WFS1 | c.1579T>G (p.Phe527Val) c.1520T>G c.1543T>G (p.Phe515Val) c.1294T>G (p.Phe432Val) c.1202T>G (p.Leu401Arg) n.1728T>G c.1552T>G (p.Phe518Val) | gnomAD v4 |
| 4 | g.6301338T= | CA1435773279 | WFS1 | c.1579T= (p.Phe527=) c.1520T= c.1543T= (p.Phe515=) c.1294T= (p.Phe432=) c.1202T= (p.Leu401=) n.1728T= c.1552T= (p.Phe518=) | |
| 4 | g.6301339T>A | CA356175894 | WFS1 | c.1580T>A (p.Phe527Tyr) c.1521T>A c.1544T>A (p.Phe515Tyr) c.1295T>A (p.Phe432Tyr) c.1203T>A (p.Leu401=) n.1729T>A c.1553T>A (p.Phe518Tyr) | |
| 4 | g.6301339T>C | CA356175896 | WFS1 | c.1580T>C (p.Phe527Ser) c.1521T>C c.1544T>C (p.Phe515Ser) c.1295T>C (p.Phe432Ser) c.1203T>C (p.Leu401=) n.1729T>C c.1553T>C (p.Phe518Ser) | ClinVar gnomAD v4 |
| 4 | g.6301339T>G | CA356175892 | WFS1 | c.1580T>G (p.Phe527Cys) c.1521T>G c.1544T>G (p.Phe515Cys) c.1295T>G (p.Phe432Cys) c.1203T>G (p.Leu401=) n.1729T>G c.1553T>G (p.Phe518Cys) | dbSNP |
| 4 | g.6301339T= | CA1435773281 | WFS1 | c.1580T= (p.Phe527=) c.1521T= c.1544T= (p.Phe515=) c.1295T= (p.Phe432=) c.1203T= (p.Leu401=) n.1729T= c.1553T= (p.Phe518=) | |
| 4 | g.6301339_6301340insA | CA2580071773 | WFS1 | c.1580_1581insA (p.Phe527LeufsTer28) c.1521_1522insA c.1544_1545insA (p.Phe515LeufsTer28) c.1295_1296insA (p.Phe432LeufsTer28) c.1203_1204insA (p.Leu402ThrfsTer7) n.1729_1730insA c.1553_1554insA (p.Phe518LeufsTer28) | ClinVar |
| 4 | g.6301340C>A | CA356175898 | WFS1 | c.1581C>A (p.Phe527Leu) c.1522C>A c.1545C>A (p.Phe515Leu) c.1296C>A (p.Phe432Leu) c.1204C>A (p.Leu402Ile) n.1730C>A c.1554C>A (p.Phe518Leu) | |
| 4 | g.6301340C= | CA1435773283 | WFS1 | c.1581C= (p.Phe527=) c.1522C= c.1545C= (p.Phe515=) c.1296C= (p.Phe432=) c.1204C= (p.Leu402=) n.1730C= c.1554C= (p.Phe518=) | |
| 4 | g.6301340C>G | CA356175899 | WFS1 | c.1581C>G (p.Phe527Leu) c.1522C>G c.1545C>G (p.Phe515Leu) c.1296C>G (p.Phe432Leu) c.1204C>G (p.Leu402Val) n.1730C>G c.1554C>G (p.Phe518Leu) | |
| 4 | g.6301340C>T | CA438368514 | WFS1 | c.1581C>T (p.Phe527=) c.1522C>T c.1545C>T (p.Phe515=) c.1296C>T (p.Phe432=) c.1204C>T (p.Leu402Phe) n.1730C>T c.1554C>T (p.Phe518=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301341T>A | CA356175901 | WFS1 | c.1582T>A (p.Phe528Ile) c.1523T>A c.1546T>A (p.Phe516Ile) c.1297T>A (p.Phe433Ile) c.1205T>A (p.Leu402His) n.1731T>A c.1555T>A (p.Phe519Ile) | |
| 4 | g.6301341T>C | CA356175902 | WFS1 | c.1582T>C (p.Phe528Leu) c.1523T>C c.1546T>C (p.Phe516Leu) c.1297T>C (p.Phe433Leu) c.1205T>C (p.Leu402Pro) n.1731T>C c.1555T>C (p.Phe519Leu) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301341T>G | CA356175904 | WFS1 | c.1582T>G (p.Phe528Val) c.1523T>G c.1546T>G (p.Phe516Val) c.1297T>G (p.Phe433Val) c.1205T>G (p.Leu402Arg) n.1731T>G c.1555T>G (p.Phe519Val) | |
| 4 | g.6301341T= | CA1435773286 | WFS1 | c.1582T= (p.Phe528=) c.1523T= c.1546T= (p.Phe516=) c.1297T= (p.Phe433=) c.1205T= (p.Leu402=) n.1731T= c.1555T= (p.Phe519=) | |
| 4 | g.6301342T>A | CA356175906 | WFS1 | c.1583T>A (p.Phe528Tyr) c.1524T>A c.1547T>A (p.Phe516Tyr) c.1298T>A (p.Phe433Tyr) c.1206T>A (p.Leu402=) n.1732T>A c.1556T>A (p.Phe519Tyr) | |
| 4 | g.6301342T>C | CA356175908 | WFS1 | c.1583T>C (p.Phe528Ser) c.1524T>C c.1547T>C (p.Phe516Ser) c.1298T>C (p.Phe433Ser) c.1206T>C (p.Leu402=) n.1732T>C c.1556T>C (p.Phe519Ser) | |
| 4 | g.6301342T>G | CA356175909 | WFS1 | c.1583T>G (p.Phe528Cys) c.1524T>G c.1547T>G (p.Phe516Cys) c.1298T>G (p.Phe433Cys) c.1206T>G (p.Leu402=) n.1732T>G c.1556T>G (p.Phe519Cys) | |
| 4 | g.6301343C>A | CA356175911 | WFS1 | c.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) | |
| 4 | g.6301343C= | CA1435773289 | WFS1 | c.1584C= (p.Phe528=) c.1525C= c.1548C= (p.Phe516=) c.1299C= (p.Phe433=) c.1207C= (p.Pro403=) n.1733C= c.1557C= (p.Phe519=) | |
| 4 | g.6301343C>G | CA356175913 | WFS1 | c.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) | |
| 4 | g.6301343C>T | CA438368524 | WFS1 | c.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 |
| 4 | g.6301344del | CA2499217324 | WFS1 | c.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 |
| 4 | g.6301344C>A | CA356175915 | WFS1 | c.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) | |
| 4 | g.6301344C= | CA1435773293 | WFS1 | c.1585C= (p.Arg529=) c.1526C= c.1549C= (p.Arg517=) c.1300C= (p.Arg434=) c.1208C= (p.Pro403=) n.1734C= c.1558C= (p.Arg520=) | |
| 4 | g.6301344C>G | CA356175916 | WFS1 | c.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 |
| 4 | g.6301344C>T | CA2839398 | WFS1 | c.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 |
| 4 | g.6301345G>A | CA2839399 | WFS1 | c.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 |
| 4 | g.6301345G>C | CA2839400 | WFS1 | c.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 |
| 4 | g.6301345G= | CA1435773296 | WFS1 | c.1586G= (p.Arg529=) c.1527G= c.1550G= (p.Arg517=) c.1301G= (p.Arg434=) c.1209G= (p.Pro403=) n.1735G= c.1559G= (p.Arg520=) | |
| 4 | g.6301345G>T | CA356175919 | WFS1 | c.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 |
| 4 | g.6301346C>A | CA438368537 | WFS1 | c.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 |
| 4 | g.6301346C= | CA1435773299 | WFS1 | c.1587C= (p.Arg529=) c.1528C= c.1551C= (p.Arg517=) c.1302C= (p.Arg434=) c.1210C= (p.His404=) n.1736C= c.1560C= (p.Arg520=) | |
| 4 | g.6301346C>G | CA438368532 | WFS1 | c.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=) | |
| 4 | g.6301346C>T | CA438368533 | WFS1 | c.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 |
| 4 | g.6301347A= | CA1435773302 | WFS1 | c.1588A= (p.Met530=) c.1529A= c.1552A= (p.Met518=) c.1303A= (p.Met435=) c.1211A= (p.His404=) n.1737A= c.1561A= (p.Met521=) | |
| 4 | g.6301347A>C | CA356175922 | WFS1 | c.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) | |
| 4 | g.6301347A>G | CA2839401 | WFS1 | c.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 |
| 4 | g.6301347A>T | CA356175924 | WFS1 | c.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) | |
| 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 |