| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301225_6301245delinsATTGGCCCTACCTGAAGGTCC | CA1435772925 | WFS1 | c.1466_1486delinsATTGGCCCTACCTGAAGGTCC (p.Asn489=) c.1407_1427delinsATTGGCCCTACCTGAAGGTCC c.1430_1450delinsATTGGCCCTACCTGAAGGTCC (p.Asn477=) c.1181_1201delinsATTGGCCCTACCTGAAGGTCC (p.Asn394=) c.1089_1109delinsATTGGCCCTACCTGAAGGTCC (p.Glu363=) n.1615_1635delinsATTGGCCCTACCTGAAGGTCC c.1439_1459delinsATTGGCCCTACCTGAAGGTCC (p.Asn480=) | |
| 4 | g.6301232_6301251del | CA1058891556 | WFS1 | c.1473_1492del (p.Tyr492AspfsTer?) c.1414_1433del c.1437_1456del (p.Tyr480AspfsTer?) c.1188_1207del (p.Tyr397AspfsTer?) c.1096_1115del (p.Leu366ArgfsTer?) n.1622_1641del c.1446_1465del (p.Tyr483AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301228_6301263dup | CA2669843434 | WFS1 | c.1469_1504dup (p.Ile501_Thr502insArgProTyrLeuLysValLeuGlyGlnThrPheIle) c.1410_1445dup c.1433_1468dup (p.Ile489_Thr490insArgProTyrLeuLysValLeuGlyGlnThrPheIle) c.1184_1219dup (p.Ile406_Thr407insArgProTyrLeuLysValLeuGlyGlnThrPheIle) c.1092_1127dup (p.His375_His376insGlnAlaLeuProGluGlyProTrpProAspLeuHis) n.1618_1653dup c.1442_1477dup (p.Ile492_Thr493insArgProTyrLeuLysValLeuGlyGlnThrPheIle) | gnomAD v4 |
| 4 | g.6301244C>A | CA438368955 | WFS1 | c.1485C>A (p.Val495=) c.1426C>A c.1449C>A (p.Val483=) c.1200C>A (p.Val400=) c.1108C>A (p.Pro370Thr) n.1634C>A c.1458C>A (p.Val486=) | |
| 4 | g.6301244C= | CA1435772982 | WFS1 | c.1485C= (p.Val495=) c.1426C= c.1449C= (p.Val483=) c.1200C= (p.Val400=) c.1108C= (p.Pro370=) n.1634C= c.1458C= (p.Val486=) | |
| 4 | g.6301244C>G | CA438368956 | WFS1 | c.1485C>G (p.Val495=) c.1426C>G c.1449C>G (p.Val483=) c.1200C>G (p.Val400=) c.1108C>G (p.Pro370Ala) n.1634C>G c.1458C>G (p.Val486=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301244C>T | CA438368957 | WFS1 | c.1485C>T (p.Val495=) c.1426C>T c.1449C>T (p.Val483=) c.1200C>T (p.Val400=) c.1108C>T (p.Pro370Ser) n.1634C>T c.1458C>T (p.Val486=) | |
| 4 | g.6301245C>A | CA356175005 | WFS1 | c.1486C>A (p.Leu496Ile) c.1427C>A c.1450C>A (p.Leu484Ile) c.1201C>A (p.Leu401Ile) c.1109C>A (p.Pro370His) n.1635C>A c.1459C>A (p.Leu487Ile) | |
| 4 | g.6301245C= | CA1435772985 | WFS1 | c.1486C= (p.Leu496=) c.1427C= c.1450C= (p.Leu484=) c.1201C= (p.Leu401=) c.1109C= (p.Pro370=) n.1635C= c.1459C= (p.Leu487=) | |
| 4 | g.6301245C>G | CA356175007 | WFS1 | c.1486C>G (p.Leu496Val) c.1427C>G c.1450C>G (p.Leu484Val) c.1201C>G (p.Leu401Val) c.1109C>G (p.Pro370Arg) n.1635C>G c.1459C>G (p.Leu487Val) | |
| 4 | g.6301245C>T | CA356175009 | WFS1 | c.1486C>T (p.Leu496Phe) c.1427C>T c.1450C>T (p.Leu484Phe) c.1201C>T (p.Leu401Phe) c.1109C>T (p.Pro370Leu) n.1635C>T c.1459C>T (p.Leu487Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301245_6301246del | CA2578035809 | WFS1 | c.1486_1487del (p.Leu496TrpfsTer?) c.1427_1428del c.1450_1451del (p.Leu484TrpfsTer?) c.1201_1202del (p.Leu401TrpfsTer?) c.1109_1110del (p.Pro370LeufsTer?) n.1635_1636del c.1459_1460del (p.Leu487TrpfsTer?) | |
| 4 | g.6301246T>A | CA356175011 | WFS1 | c.1487T>A (p.Leu496His) c.1428T>A c.1451T>A (p.Leu484His) c.1202T>A (p.Leu401His) c.1110T>A (p.Pro370=) n.1636T>A c.1460T>A (p.Leu487His) | gnomAD v4 |
| 4 | g.6301246T>C | CA2839356 | WFS1 | c.1487T>C (p.Leu496Pro) c.1428T>C c.1451T>C (p.Leu484Pro) c.1202T>C (p.Leu401Pro) c.1110T>C (p.Pro370=) n.1636T>C c.1460T>C (p.Leu487Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301246T>G | CA356175014 | WFS1 | c.1487T>G (p.Leu496Arg) c.1428T>G c.1451T>G (p.Leu484Arg) c.1202T>G (p.Leu401Arg) c.1110T>G (p.Pro370=) n.1636T>G c.1460T>G (p.Leu487Arg) | |
| 4 | g.6301246T= | CA1435772989 | WFS1 | c.1487T= (p.Leu496=) c.1428T= c.1451T= (p.Leu484=) c.1202T= (p.Leu401=) c.1110T= (p.Pro370=) n.1636T= c.1460T= (p.Leu487=) | |
| 4 | g.6301247_6301258dup | CA2669843435 | WFS1 | c.1488_1499dup (p.Phe500_Ile501insGlyGlnThrPhe) c.1429_1440dup c.1452_1463dup (p.Phe488_Ile489insGlyGlnThrPhe) c.1203_1214dup (p.Phe405_Ile406insGlyGlnThrPhe) c.1111_1122dup (p.Leu374_His375insTrpProAspLeu) n.1637_1648dup c.1461_1472dup (p.Phe491_Ile492insGlyGlnThrPhe) | gnomAD v4 |
| 4 | g.6301247T>A | CA438368961 | WFS1 | c.1488T>A (p.Leu496=) c.1429T>A c.1452T>A (p.Leu484=) c.1203T>A (p.Leu401=) c.1111T>A (p.Trp371Arg) n.1637T>A c.1461T>A (p.Leu487=) | |
| 4 | g.6301247T>C | CA10586892 | WFS1 | c.1488T>C (p.Leu496=) c.1429T>C c.1452T>C (p.Leu484=) c.1203T>C (p.Leu401=) c.1111T>C (p.Trp371Arg) n.1637T>C c.1461T>C (p.Leu487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301247T>G | CA2839357 | WFS1 | c.1488T>G (p.Leu496=) c.1429T>G c.1452T>G (p.Leu484=) c.1203T>G (p.Leu401=) c.1111T>G (p.Trp371Gly) n.1637T>G c.1461T>G (p.Leu487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301247T= | CA1435772993 | WFS1 | c.1488T= (p.Leu496=) c.1429T= c.1452T= (p.Leu484=) c.1203T= (p.Leu401=) c.1111T= (p.Trp371=) n.1637T= c.1461T= (p.Leu487=) | |
| 4 | g.6301248G>A | CA356175018 | WFS1 | c.1489G>A (p.Gly497Ser) c.1430G>A c.1453G>A (p.Gly485Ser) c.1204G>A (p.Gly402Ser) c.1112G>A (p.Trp371Ter) n.1638G>A c.1462G>A (p.Gly488Ser) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301248G>C | CA356175022 | WFS1 | c.1489G>C (p.Gly497Arg) c.1430G>C c.1453G>C (p.Gly485Arg) c.1204G>C (p.Gly402Arg) c.1112G>C (p.Trp371Ser) n.1638G>C c.1462G>C (p.Gly488Arg) | |
| 4 | g.6301248G= | CA1435772998 | WFS1 | c.1489G= (p.Gly497=) c.1430G= c.1453G= (p.Gly485=) c.1204G= (p.Gly402=) c.1112G= (p.Trp371=) n.1638G= c.1462G= (p.Gly488=) | |
| 4 | g.6301248G>T | CA356175020 | WFS1 | c.1489G>T (p.Gly497Cys) c.1430G>T c.1453G>T (p.Gly485Cys) c.1204G>T (p.Gly402Cys) c.1112G>T (p.Trp371Leu) n.1638G>T c.1462G>T (p.Gly488Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301249G>A | CA356175024 | WFS1 | c.1490G>A (p.Gly497Asp) c.1431G>A c.1454G>A (p.Gly485Asp) c.1205G>A (p.Gly402Asp) c.1113G>A (p.Trp371Ter) n.1639G>A c.1463G>A (p.Gly488Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301249G>C | CA356175028 | WFS1 | c.1490G>C (p.Gly497Ala) c.1431G>C c.1454G>C (p.Gly485Ala) c.1205G>C (p.Gly402Ala) c.1113G>C (p.Trp371Cys) n.1639G>C c.1463G>C (p.Gly488Ala) | |
| 4 | g.6301249G= | CA1435772999 | WFS1 | c.1490G= (p.Gly497=) c.1431G= c.1454G= (p.Gly485=) c.1205G= (p.Gly402=) c.1113G= (p.Trp371=) n.1639G= c.1463G= (p.Gly488=) | |
| 4 | g.6301249G>T | CA356175026 | WFS1 | c.1490G>T (p.Gly497Val) c.1431G>T c.1454G>T (p.Gly485Val) c.1205G>T (p.Gly402Val) c.1113G>T (p.Trp371Cys) n.1639G>T c.1463G>T (p.Gly488Val) | gnomAD v4 |
| 4 | g.6301250C>A | CA438368969 | WFS1 | c.1491C>A (p.Gly497=) c.1432C>A c.1455C>A (p.Gly485=) c.1206C>A (p.Gly402=) c.1114C>A (p.Pro372Thr) n.1640C>A c.1464C>A (p.Gly488=) | gnomAD v4 |
| 4 | g.6301250C= | CA1435773001 | WFS1 | c.1491C= (p.Gly497=) c.1432C= c.1455C= (p.Gly485=) c.1206C= (p.Gly402=) c.1114C= (p.Pro372=) n.1640C= c.1464C= (p.Gly488=) | |
| 4 | g.6301250C>G | CA438368970 | WFS1 | c.1491C>G (p.Gly497=) c.1432C>G c.1455C>G (p.Gly485=) c.1206C>G (p.Gly402=) c.1114C>G (p.Pro372Ala) n.1640C>G c.1464C>G (p.Gly488=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301250C>T | CA438368971 | WFS1 | c.1491C>T (p.Gly497=) c.1432C>T c.1455C>T (p.Gly485=) c.1206C>T (p.Gly402=) c.1114C>T (p.Pro372Ser) n.1640C>T c.1464C>T (p.Gly488=) | gnomAD v4 |
| 4 | g.6301251C>A | CA356175031 | WFS1 | c.1492C>A (p.Gln498Lys) c.1433C>A c.1456C>A (p.Gln486Lys) c.1207C>A (p.Gln403Lys) c.1115C>A (p.Pro372Gln) n.1641C>A c.1465C>A (p.Gln489Lys) | |
| 4 | g.6301251C= | CA1435773003 | WFS1 | c.1492C= (p.Gln498=) c.1433C= c.1456C= (p.Gln486=) c.1207C= (p.Gln403=) c.1115C= (p.Pro372=) n.1641C= c.1465C= (p.Gln489=) | |
| 4 | g.6301251C>G | CA356175033 | WFS1 | c.1492C>G (p.Gln498Glu) c.1433C>G c.1456C>G (p.Gln486Glu) c.1207C>G (p.Gln403Glu) c.1115C>G (p.Pro372Arg) n.1641C>G c.1465C>G (p.Gln489Glu) | |
| 4 | g.6301251C>T | CA356175032 | WFS1 | c.1492C>T (p.Gln498Ter) c.1433C>T c.1456C>T (p.Gln486Ter) c.1207C>T (p.Gln403Ter) c.1115C>T (p.Pro372Leu) n.1641C>T c.1465C>T (p.Gln489Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301252A>C | CA356175036 | WFS1 | c.1493A>C (p.Gln498Pro) c.1434A>C c.1457A>C (p.Gln486Pro) c.1208A>C (p.Gln403Pro) c.1116A>C (p.Pro372=) n.1642A>C c.1466A>C (p.Gln489Pro) | gnomAD v4 |
| 4 | g.6301252A>G | CA356175040 | WFS1 | c.1493A>G (p.Gln498Arg) c.1434A>G c.1457A>G (p.Gln486Arg) c.1208A>G (p.Gln403Arg) c.1116A>G (p.Pro372=) n.1642A>G c.1466A>G (p.Gln489Arg) | gnomAD v4 |
| 4 | g.6301252A>T | CA356175038 | WFS1 | c.1493A>T (p.Gln498Leu) c.1434A>T c.1457A>T (p.Gln486Leu) c.1208A>T (p.Gln403Leu) c.1116A>T (p.Pro372=) n.1642A>T c.1466A>T (p.Gln489Leu) | ClinVar dbSNP |
| 4 | g.6301252_6301253insAG | CA2578035814 | WFS1 | c.1493_1494insAG (p.Thr499GlyfsTer?) c.1434_1435insAG c.1457_1458insAG (p.Thr487GlyfsTer?) c.1208_1209insAG (p.Thr404GlyfsTer?) c.1116_1117insAG (p.Asp373ArgfsTer?) n.1642_1643insAG c.1466_1467insAG (p.Thr490GlyfsTer?) | |
| 4 | g.6301253G>A | CA2839359 | WFS1 | c.1494G>A (p.Gln498=) c.1435G>A c.1458G>A (p.Gln486=) c.1209G>A (p.Gln403=) c.1117G>A (p.Asp373Asn) n.1643G>A c.1467G>A (p.Gln489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301253G>C | CA2839358 | WFS1 | c.1494G>C (p.Gln498His) c.1435G>C c.1458G>C (p.Gln486His) c.1209G>C (p.Gln403His) c.1117G>C (p.Asp373His) n.1643G>C c.1467G>C (p.Gln489His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301253G= | CA1435773006 | WFS1 | c.1494G= (p.Gln498=) c.1435G= c.1458G= (p.Gln486=) c.1209G= (p.Gln403=) c.1117G= (p.Asp373=) n.1643G= c.1467G= (p.Gln489=) | |
| 4 | g.6301253G>T | CA356175043 | WFS1 | c.1494G>T (p.Gln498His) c.1435G>T c.1458G>T (p.Gln486His) c.1209G>T (p.Gln403His) c.1117G>T (p.Asp373Tyr) n.1643G>T c.1467G>T (p.Gln489His) | gnomAD v4 |
| 4 | g.6301254A= | CA1435773009 | WFS1 | c.1495A= (p.Thr499=) c.1436A= c.1459A= (p.Thr487=) c.1210A= (p.Thr404=) c.1118A= (p.Asp373=) n.1644A= c.1468A= (p.Thr490=) | |
| 4 | g.6301254A>C | CA356175044 | WFS1 | c.1495A>C (p.Thr499Pro) c.1436A>C c.1459A>C (p.Thr487Pro) c.1210A>C (p.Thr404Pro) c.1118A>C (p.Asp373Ala) n.1644A>C c.1468A>C (p.Thr490Pro) | |
| 4 | g.6301254A>G | CA91796272 | WFS1 | c.1495A>G (p.Thr499Ala) c.1436A>G c.1459A>G (p.Thr487Ala) c.1210A>G (p.Thr404Ala) c.1118A>G (p.Asp373Gly) n.1644A>G c.1468A>G (p.Thr490Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301254A>T | CA356175047 | WFS1 | c.1495A>T (p.Thr499Ser) c.1436A>T c.1459A>T (p.Thr487Ser) c.1210A>T (p.Thr404Ser) c.1118A>T (p.Asp373Val) n.1644A>T c.1468A>T (p.Thr490Ser) | |
| 4 | g.6301255C>A | CA356175049 | WFS1 | c.1496C>A (p.Thr499Asn) c.1437C>A c.1460C>A (p.Thr487Asn) c.1211C>A (p.Thr404Asn) c.1119C>A (p.Asp373Glu) n.1645C>A c.1469C>A (p.Thr490Asn) | gnomAD v4 |
| 4 | g.6301255C= | CA1435773015 | WFS1 | c.1496C= (p.Thr499=) c.1437C= c.1460C= (p.Thr487=) c.1211C= (p.Thr404=) c.1119C= (p.Asp373=) n.1645C= c.1469C= (p.Thr490=) | |
| 4 | g.6301255C>G | CA2839360 | WFS1 | c.1496C>G (p.Thr499Ser) c.1437C>G c.1460C>G (p.Thr487Ser) c.1211C>G (p.Thr404Ser) c.1119C>G (p.Asp373Glu) n.1645C>G c.1469C>G (p.Thr490Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301255C>T | CA2839361 | WFS1 | c.1496C>T (p.Thr499Ile) c.1437C>T c.1460C>T (p.Thr487Ile) c.1211C>T (p.Thr404Ile) c.1119C>T (p.Asp373=) n.1645C>T c.1469C>T (p.Thr490Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301256C>A | CA438368976 | WFS1 | c.1497C>A (p.Thr499=) c.1438C>A c.1461C>A (p.Thr487=) c.1212C>A (p.Thr404=) c.1120C>A (p.Leu374Ile) n.1646C>A c.1470C>A (p.Thr490=) | |
| 4 | g.6301256C= | CA1435773019 | WFS1 | c.1497C= (p.Thr499=) c.1438C= c.1461C= (p.Thr487=) c.1212C= (p.Thr404=) c.1120C= (p.Leu374=) n.1646C= c.1470C= (p.Thr490=) | |
| 4 | g.6301256C>G | CA438368977 | WFS1 | c.1497C>G (p.Thr499=) c.1438C>G c.1461C>G (p.Thr487=) c.1212C>G (p.Thr404=) c.1120C>G (p.Leu374Val) n.1646C>G c.1470C>G (p.Thr490=) | gnomAD v4 |
| 4 | g.6301256C>T | CA2839362 | WFS1 | c.1497C>T (p.Thr499=) c.1438C>T c.1461C>T (p.Thr487=) c.1212C>T (p.Thr404=) c.1120C>T (p.Leu374Phe) n.1646C>T c.1470C>T (p.Thr490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301257_6301259del | CA2580071770 | WFS1 | c.1498_1500del (p.Phe500del) c.1439_1441del c.1462_1464del (p.Phe488del) c.1213_1215del (p.Phe405del) c.1121_1123del (p.Leu374del) n.1647_1649del c.1471_1473del (p.Phe491del) | ClinVar |
| 4 | g.6301257T>A | CA356175054 | WFS1 | c.1498T>A (p.Phe500Ile) c.1439T>A c.1462T>A (p.Phe488Ile) c.1213T>A (p.Phe405Ile) c.1121T>A (p.Leu374His) n.1647T>A c.1471T>A (p.Phe491Ile) | |
| 4 | g.6301257T>C | CA356175056 | WFS1 | c.1498T>C (p.Phe500Leu) c.1439T>C c.1462T>C (p.Phe488Leu) c.1213T>C (p.Phe405Leu) c.1121T>C (p.Leu374Pro) n.1647T>C c.1471T>C (p.Phe491Leu) | |
| 4 | g.6301257T>G | CA356175058 | WFS1 | c.1498T>G (p.Phe500Val) c.1439T>G c.1462T>G (p.Phe488Val) c.1213T>G (p.Phe405Val) c.1121T>G (p.Leu374Arg) n.1647T>G c.1471T>G (p.Phe491Val) | |
| 4 | g.6301258del | CA2669843436 | WFS1 | c.1499del (p.Phe500SerfsTer?) c.1440del c.1463del (p.Phe488SerfsTer?) c.1214del (p.Phe405SerfsTer?) c.1122del (p.His375IlefsTer?) n.1648del c.1472del (p.Phe491SerfsTer?) | gnomAD v4 |
| 4 | g.6301258T>A | CA356175060 | WFS1 | c.1499T>A (p.Phe500Tyr) c.1440T>A c.1463T>A (p.Phe488Tyr) c.1214T>A (p.Phe405Tyr) c.1122T>A (p.Leu374=) n.1648T>A c.1472T>A (p.Phe491Tyr) | |
| 4 | g.6301258T>C | CA356175065 | WFS1 | c.1499T>C (p.Phe500Ser) c.1440T>C c.1463T>C (p.Phe488Ser) c.1214T>C (p.Phe405Ser) c.1122T>C (p.Leu374=) n.1648T>C c.1472T>C (p.Phe491Ser) | dbSNP gnomAD v2 |
| 4 | g.6301258T>G | CA356175063 | WFS1 | c.1499T>G (p.Phe500Cys) c.1440T>G c.1463T>G (p.Phe488Cys) c.1214T>G (p.Phe405Cys) c.1122T>G (p.Leu374=) n.1648T>G c.1472T>G (p.Phe491Cys) | |
| 4 | g.6301258T= | CA1435773021 | WFS1 | c.1499T= (p.Phe500=) c.1440T= c.1463T= (p.Phe488=) c.1214T= (p.Phe405=) c.1122T= (p.Leu374=) n.1648T= c.1472T= (p.Phe491=) | |
| 4 | g.6301258_6301269dup | CA2586973624 | WFS1 | c.1499_1510dup (p.Val503_Pro504insLeuIleThrVal) c.1440_1451dup c.1463_1474dup (p.Val491_Pro492insLeuIleThrVal) c.1214_1225dup (p.Val408_Pro409insLeuIleThrVal) c.1122_1133dup (p.Ala378_Cys379insHisHisArgAla) n.1648_1659dup c.1472_1483dup (p.Val494_Pro495insLeuIleThrVal) | |
| 4 | g.6301259C>A | CA356175067 | WFS1 | c.1500C>A (p.Phe500Leu) c.1441C>A c.1464C>A (p.Phe488Leu) c.1215C>A (p.Phe405Leu) c.1123C>A (p.His375Asn) n.1649C>A c.1473C>A (p.Phe491Leu) | |
| 4 | g.6301259C= | CA1435773023 | WFS1 | c.1500C= (p.Phe500=) c.1441C= c.1464C= (p.Phe488=) c.1215C= (p.Phe405=) c.1123C= (p.His375=) n.1649C= c.1473C= (p.Phe491=) | |
| 4 | g.6301259C>G | CA356175069 | WFS1 | c.1500C>G (p.Phe500Leu) c.1441C>G c.1464C>G (p.Phe488Leu) c.1215C>G (p.Phe405Leu) c.1123C>G (p.His375Asp) n.1649C>G c.1473C>G (p.Phe491Leu) | |
| 4 | g.6301259C>T | CA438368980 | WFS1 | c.1500C>T (p.Phe500=) c.1441C>T c.1464C>T (p.Phe488=) c.1215C>T (p.Phe405=) c.1123C>T (p.His375Tyr) n.1649C>T c.1473C>T (p.Phe491=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301260A= | CA1435773025 | WFS1 | c.1501A= (p.Ile501=) c.1442A= c.1465A= (p.Ile489=) c.1216A= (p.Ile406=) c.1124A= (p.His375=) n.1650A= c.1474A= (p.Ile492=) | |
| 4 | g.6301260A>C | CA356175070 | WFS1 | c.1501A>C (p.Ile501Leu) c.1442A>C c.1465A>C (p.Ile489Leu) c.1216A>C (p.Ile406Leu) c.1124A>C (p.His375Pro) n.1650A>C c.1474A>C (p.Ile492Leu) | gnomAD v4 |
| 4 | g.6301260A>G | CA2839363 | WFS1 | c.1501A>G (p.Ile501Val) c.1442A>G c.1465A>G (p.Ile489Val) c.1216A>G (p.Ile406Val) c.1124A>G (p.His375Arg) n.1650A>G c.1474A>G (p.Ile492Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301260A>T | CA356175073 | WFS1 | c.1501A>T (p.Ile501Phe) c.1442A>T c.1465A>T (p.Ile489Phe) c.1216A>T (p.Ile406Phe) c.1124A>T (p.His375Leu) n.1650A>T c.1474A>T (p.Ile492Phe) | |
| 4 | g.6301261T>A | CA2839364 | WFS1 | c.1502T>A (p.Ile501Asn) c.1443T>A c.1466T>A (p.Ile489Asn) c.1217T>A (p.Ile406Asn) c.1125T>A (p.His375Gln) n.1651T>A c.1475T>A (p.Ile492Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301261T>C | CA356175076 | WFS1 | c.1502T>C (p.Ile501Thr) c.1443T>C c.1466T>C (p.Ile489Thr) c.1217T>C (p.Ile406Thr) c.1125T>C (p.His375=) n.1651T>C c.1475T>C (p.Ile492Thr) | dbSNP gnomAD v4 |
| 4 | g.6301261T>G | CA356175078 | WFS1 | c.1502T>G (p.Ile501Ser) c.1443T>G c.1466T>G (p.Ile489Ser) c.1217T>G (p.Ile406Ser) c.1125T>G (p.His375Gln) n.1651T>G c.1475T>G (p.Ile492Ser) | |
| 4 | g.6301261T= | CA1435773028 | WFS1 | c.1502T= (p.Ile501=) c.1443T= c.1466T= (p.Ile489=) c.1217T= (p.Ile406=) c.1125T= (p.His375=) n.1651T= c.1475T= (p.Ile492=) | |
| 4 | g.6301262C>A | CA438368986 | WFS1 | c.1503C>A (p.Ile501=) c.1444C>A c.1467C>A (p.Ile489=) c.1218C>A (p.Ile406=) c.1126C>A (p.His376Asn) n.1652C>A c.1476C>A (p.Ile492=) | |
| 4 | g.6301262C= | CA1435773035 | WFS1 | c.1503C= (p.Ile501=) c.1444C= c.1467C= (p.Ile489=) c.1218C= (p.Ile406=) c.1126C= (p.His376=) n.1652C= c.1476C= (p.Ile492=) | |
| 4 | g.6301262C>G | CA2839365 | WFS1 | c.1503C>G (p.Ile501Met) c.1444C>G c.1467C>G (p.Ile489Met) c.1218C>G (p.Ile406Met) c.1126C>G (p.His376Asp) n.1652C>G c.1476C>G (p.Ile492Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301262C>T | CA438368987 | WFS1 | c.1503C>T (p.Ile501=) c.1444C>T c.1467C>T (p.Ile489=) c.1218C>T (p.Ile406=) c.1126C>T (p.His376Tyr) n.1652C>T c.1476C>T (p.Ile492=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301263A= | CA1435773039 | WFS1 | c.1504A= (p.Thr502=) c.1445A= c.1468A= (p.Thr490=) c.1219A= (p.Thr407=) c.1127A= (p.His376=) n.1653A= c.1477A= (p.Thr493=) | |
| 4 | g.6301263A>C | CA356175086 | WFS1 | c.1504A>C (p.Thr502Pro) c.1445A>C c.1468A>C (p.Thr490Pro) c.1219A>C (p.Thr407Pro) c.1127A>C (p.His376Pro) n.1653A>C c.1477A>C (p.Thr493Pro) | gnomAD v4 |
| 4 | g.6301263A>G | CA356175084 | WFS1 | c.1504A>G (p.Thr502Ala) c.1445A>G c.1468A>G (p.Thr490Ala) c.1219A>G (p.Thr407Ala) c.1127A>G (p.His376Arg) n.1653A>G c.1477A>G (p.Thr493Ala) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301263A>T | CA356175082 | WFS1 | c.1504A>T (p.Thr502Ser) c.1445A>T c.1468A>T (p.Thr490Ser) c.1219A>T (p.Thr407Ser) c.1127A>T (p.His376Leu) n.1653A>T c.1477A>T (p.Thr493Ser) | |
| 4 | g.6301264C>A | CA356175088 | WFS1 | c.1505C>A (p.Thr502Asn) c.1446C>A c.1469C>A (p.Thr490Asn) c.1220C>A (p.Thr407Asn) c.1128C>A (p.His376Gln) n.1654C>A c.1478C>A (p.Thr493Asn) | gnomAD v4 |
| 4 | g.6301264C= | CA1435773042 | WFS1 | c.1505C= (p.Thr502=) c.1446C= c.1469C= (p.Thr490=) c.1220C= (p.Thr407=) c.1128C= (p.His376=) n.1654C= c.1478C= (p.Thr493=) | |
| 4 | g.6301264C>G | CA356175090 | WFS1 | c.1505C>G (p.Thr502Ser) c.1446C>G c.1469C>G (p.Thr490Ser) c.1220C>G (p.Thr407Ser) c.1128C>G (p.His376Gln) n.1654C>G c.1478C>G (p.Thr493Ser) | gnomAD v4 |
| 4 | g.6301264C>T | CA91796273 | WFS1 | c.1505C>T (p.Thr502Ile) c.1446C>T c.1469C>T (p.Thr490Ile) c.1220C>T (p.Thr407Ile) c.1128C>T (p.His376=) n.1654C>T c.1478C>T (p.Thr493Ile) | dbSNP gnomAD v2 |
| 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.6301265C>A | CA438368989 | WFS1 | c.1506C>A (p.Thr502=) c.1447C>A c.1470C>A (p.Thr490=) c.1221C>A (p.Thr407=) c.1129C>A (p.Arg377Ser) n.1655C>A c.1479C>A (p.Thr493=) | |
| 4 | g.6301265C= | CA1435773047 | WFS1 | c.1506C= (p.Thr502=) c.1447C= c.1470C= (p.Thr490=) c.1221C= (p.Thr407=) c.1129C= (p.Arg377=) n.1655C= c.1479C= (p.Thr493=) | |
| 4 | g.6301265C>G | CA438368990 | WFS1 | c.1506C>G (p.Thr502=) c.1447C>G c.1470C>G (p.Thr490=) c.1221C>G (p.Thr407=) c.1129C>G (p.Arg377Gly) n.1655C>G c.1479C>G (p.Thr493=) | |
| 4 | g.6301265C>T | CA182620 | WFS1 | c.1506C>T (p.Thr502=) c.1447C>T c.1470C>T (p.Thr490=) c.1221C>T (p.Thr407=) c.1129C>T (p.Arg377Cys) n.1655C>T c.1479C>T (p.Thr493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301266G>A | CA2839366 | WFS1 | c.1507G>A (p.Val503Met) c.1448G>A c.1471G>A (p.Val491Met) c.1222G>A (p.Val408Met) c.1130G>A (p.Arg377His) n.1656G>A c.1480G>A (p.Val494Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301266G>C | CA356175096 | WFS1 | c.1507G>C (p.Val503Leu) c.1448G>C c.1471G>C (p.Val491Leu) c.1222G>C (p.Val408Leu) c.1130G>C (p.Arg377Pro) n.1656G>C c.1480G>C (p.Val494Leu) | |
| 4 | g.6301266G= | CA1435773050 | WFS1 | c.1507G= (p.Val503=) c.1448G= c.1471G= (p.Val491=) c.1222G= (p.Val408=) c.1130G= (p.Arg377=) n.1656G= c.1480G= (p.Val494=) | |
| 4 | g.6301266G>T | CA356175098 | WFS1 | c.1507G>T (p.Val503Leu) c.1448G>T c.1471G>T (p.Val491Leu) c.1222G>T (p.Val408Leu) c.1130G>T (p.Arg377Leu) n.1656G>T c.1480G>T (p.Val494Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301267T>A | CA356175100 | WFS1 | c.1508T>A (p.Val503Glu) c.1449T>A c.1472T>A (p.Val491Glu) c.1223T>A (p.Val408Glu) c.1131T>A (p.Arg377=) n.1657T>A c.1481T>A (p.Val494Glu) | |
| 4 | g.6301267T>C | CA356175102 | WFS1 | c.1508T>C (p.Val503Ala) c.1449T>C c.1472T>C (p.Val491Ala) c.1223T>C (p.Val408Ala) c.1131T>C (p.Arg377=) n.1657T>C c.1481T>C (p.Val494Ala) | |
| 4 | g.6301267T>G | CA356175104 | WFS1 | c.1508T>G (p.Val503Gly) c.1449T>G c.1472T>G (p.Val491Gly) c.1223T>G (p.Val408Gly) c.1131T>G (p.Arg377=) n.1657T>G c.1481T>G (p.Val494Gly) | |
| 4 | g.6301268G>A | CA438368992 | WFS1 | c.1509G>A (p.Val503=) c.1450G>A c.1473G>A (p.Val491=) c.1224G>A (p.Val408=) c.1132G>A (p.Ala378Thr) n.1658G>A c.1482G>A (p.Val494=) | gnomAD v4 |
| 4 | g.6301268G>C | CA438368993 | WFS1 | c.1509G>C (p.Val503=) c.1450G>C c.1473G>C (p.Val491=) c.1224G>C (p.Val408=) c.1132G>C (p.Ala378Pro) n.1658G>C c.1482G>C (p.Val494=) | |
| 4 | g.6301268G>T | CA438368994 | WFS1 | c.1509G>T (p.Val503=) c.1450G>T c.1473G>T (p.Val491=) c.1224G>T (p.Val408=) c.1132G>T (p.Ala378Ser) n.1658G>T c.1482G>T (p.Val494=) | gnomAD v4 |
| 4 | g.6301269C>A | CA356175106 | WFS1 | c.1510C>A (p.Pro504Thr) c.1451C>A c.1474C>A (p.Pro492Thr) c.1225C>A (p.Pro409Thr) c.1133C>A (p.Ala378Asp) n.1659C>A c.1483C>A (p.Pro495Thr) | |
| 4 | g.6301269C>G | CA356175107 | WFS1 | c.1510C>G (p.Pro504Ala) c.1451C>G c.1474C>G (p.Pro492Ala) c.1225C>G (p.Pro409Ala) c.1133C>G (p.Ala378Gly) n.1659C>G c.1483C>G (p.Pro495Ala) | gnomAD v4 |
| 4 | g.6301269C>T | CA356175109 | WFS1 | c.1510C>T (p.Pro504Ser) c.1451C>T c.1474C>T (p.Pro492Ser) c.1225C>T (p.Pro409Ser) c.1133C>T (p.Ala378Val) n.1659C>T c.1483C>T (p.Pro495Ser) | |
| 4 | g.6301270C>A | CA356175111 | WFS1 | c.1511C>A (p.Pro504His) c.1452C>A c.1475C>A (p.Pro492His) c.1226C>A (p.Pro409His) c.1134C>A (p.Ala378=) n.1660C>A c.1484C>A (p.Pro495His) | gnomAD v4 |
| 4 | g.6301270C>G | CA356175114 | WFS1 | c.1511C>G (p.Pro504Arg) c.1452C>G c.1475C>G (p.Pro492Arg) c.1226C>G (p.Pro409Arg) c.1134C>G (p.Ala378=) n.1660C>G c.1484C>G (p.Pro495Arg) | gnomAD v4 |
| 4 | g.6301270C>T | CA356175113 | WFS1 | c.1511C>T (p.Pro504Leu) c.1452C>T c.1475C>T (p.Pro492Leu) c.1226C>T (p.Pro409Leu) c.1134C>T (p.Ala378=) n.1660C>T c.1484C>T (p.Pro495Leu) | |
| 4 | g.6301271T>A | CA438368999 | WFS1 | c.1512T>A (p.Pro504=) c.1453T>A c.1476T>A (p.Pro492=) c.1227T>A (p.Pro409=) c.1135T>A (p.Cys379Ser) n.1661T>A c.1485T>A (p.Pro495=) | |
| 4 | g.6301271T>C | CA438369000 | WFS1 | c.1512T>C (p.Pro504=) c.1453T>C c.1476T>C (p.Pro492=) c.1227T>C (p.Pro409=) c.1135T>C (p.Cys379Arg) n.1661T>C c.1485T>C (p.Pro495=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301271T>G | CA438369001 | WFS1 | c.1512T>G (p.Pro504=) c.1453T>G c.1476T>G (p.Pro492=) c.1227T>G (p.Pro409=) c.1135T>G (p.Cys379Gly) n.1661T>G c.1485T>G (p.Pro495=) | |
| 4 | g.6301271T= | CA1435773054 | WFS1 | c.1512T= (p.Pro504=) c.1453T= c.1476T= (p.Pro492=) c.1227T= (p.Pro409=) c.1135T= (p.Cys379=) n.1661T= c.1485T= (p.Pro495=) | |
| 4 | g.6301272G>A | CA356175115 | WFS1 | c.1513G>A (p.Val505Ile) c.1454G>A c.1477G>A (p.Val493Ile) c.1228G>A (p.Val410Ile) c.1136G>A (p.Cys379Tyr) n.1662G>A c.1486G>A (p.Val496Ile) | gnomAD v3 gnomAD v4 |
| 4 | g.6301272G>C | CA356175117 | WFS1 | c.1513G>C (p.Val505Leu) c.1454G>C c.1477G>C (p.Val493Leu) c.1228G>C (p.Val410Leu) c.1136G>C (p.Cys379Ser) n.1662G>C c.1486G>C (p.Val496Leu) | dbSNP |
| 4 | g.6301272G= | CA1435773058 | WFS1 | c.1513G= (p.Val505=) c.1454G= c.1477G= (p.Val493=) c.1228G= (p.Val410=) c.1136G= (p.Cys379=) n.1662G= c.1486G= (p.Val496=) | |
| 4 | g.6301272G>T | CA356175119 | WFS1 | c.1513G>T (p.Val505Phe) c.1454G>T c.1477G>T (p.Val493Phe) c.1228G>T (p.Val410Phe) c.1136G>T (p.Cys379Phe) n.1662G>T c.1486G>T (p.Val496Phe) | gnomAD v4 |
| 4 | g.6301273T>A | CA356175121 | WFS1 | c.1514T>A (p.Val505Asp) c.1455T>A c.1478T>A (p.Val493Asp) c.1229T>A (p.Val410Asp) c.1137T>A (p.Cys379Ter) n.1663T>A c.1487T>A (p.Val496Asp) | |
| 4 | g.6301273T>C | CA2839367 | WFS1 | c.1514T>C (p.Val505Ala) c.1455T>C c.1478T>C (p.Val493Ala) c.1229T>C (p.Val410Ala) c.1137T>C (p.Cys379=) n.1663T>C c.1487T>C (p.Val496Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301273T>G | CA356175124 | WFS1 | c.1514T>G (p.Val505Gly) c.1455T>G c.1478T>G (p.Val493Gly) c.1229T>G (p.Val410Gly) c.1137T>G (p.Cys379Trp) n.1663T>G c.1487T>G (p.Val496Gly) | |
| 4 | g.6301273T= | CA1435773062 | WFS1 | c.1514T= (p.Val505=) c.1455T= c.1478T= (p.Val493=) c.1229T= (p.Val410=) c.1137T= (p.Cys379=) n.1663T= c.1487T= (p.Val496=) | |
| 4 | g.6301274C>A | CA438369008 | WFS1 | c.1515C>A (p.Val505=) c.1456C>A c.1479C>A (p.Val493=) c.1230C>A (p.Val410=) c.1138C>A (p.Arg380=) n.1664C>A c.1488C>A (p.Val496=) | ClinVar dbSNP |
| 4 | g.6301274C= | CA1435773067 | WFS1 | c.1515C= (p.Val505=) c.1456C= c.1479C= (p.Val493=) c.1230C= (p.Val410=) c.1138C= (p.Arg380=) n.1664C= c.1488C= (p.Val496=) | |
| 4 | g.6301274C>G | CA438369007 | WFS1 | c.1515C>G (p.Val505=) c.1456C>G c.1479C>G (p.Val493=) c.1230C>G (p.Val410=) c.1138C>G (p.Arg380Gly) n.1664C>G c.1488C>G (p.Val496=) | |
| 4 | g.6301274C>T | CA2839368 | WFS1 | c.1515C>T (p.Val505=) c.1456C>T c.1479C>T (p.Val493=) c.1230C>T (p.Val410=) c.1138C>T (p.Arg380Trp) n.1664C>T c.1488C>T (p.Val496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301275G>A | CA2839369 | WFS1 | c.1516G>A (p.Gly506Ser) c.1457G>A c.1480G>A (p.Gly494Ser) c.1231G>A (p.Gly411Ser) c.1139G>A (p.Arg380Gln) n.1665G>A c.1489G>A (p.Gly497Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301275G>C | CA356175128 | WFS1 | c.1516G>C (p.Gly506Arg) c.1457G>C c.1480G>C (p.Gly494Arg) c.1231G>C (p.Gly411Arg) c.1139G>C (p.Arg380Pro) n.1665G>C c.1489G>C (p.Gly497Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301275G= | CA1435773073 | WFS1 | c.1516G= (p.Gly506=) c.1457G= c.1480G= (p.Gly494=) c.1231G= (p.Gly411=) c.1139G= (p.Arg380=) n.1665G= c.1489G= (p.Gly497=) | |
| 4 | g.6301275G>T | CA356175131 | WFS1 | c.1516G>T (p.Gly506Cys) c.1457G>T c.1480G>T (p.Gly494Cys) c.1231G>T (p.Gly411Cys) c.1139G>T (p.Arg380Leu) n.1665G>T c.1489G>T (p.Gly497Cys) | ClinVar |
| 4 | g.6301276G>A | CA356175136 | WFS1 | c.1517G>A (p.Gly506Asp) c.1458G>A c.1481G>A (p.Gly494Asp) c.1232G>A (p.Gly411Asp) c.1140G>A (p.Arg380=) n.1666G>A c.1490G>A (p.Gly497Asp) | gnomAD v4 |
| 4 | g.6301276G>C | CA356175135 | WFS1 | c.1517G>C (p.Gly506Ala) c.1458G>C c.1481G>C (p.Gly494Ala) c.1232G>C (p.Gly411Ala) c.1140G>C (p.Arg380=) n.1666G>C c.1490G>C (p.Gly497Ala) | |
| 4 | g.6301276G= | CA1435773075 | WFS1 | c.1517G= (p.Gly506=) c.1458G= c.1481G= (p.Gly494=) c.1232G= (p.Gly411=) c.1140G= (p.Arg380=) n.1666G= c.1490G= (p.Gly497=) | |
| 4 | g.6301276G>T | CA356175133 | WFS1 | c.1517G>T (p.Gly506Val) c.1458G>T c.1481G>T (p.Gly494Val) c.1232G>T (p.Gly411Val) c.1140G>T (p.Arg380=) n.1666G>T c.1490G>T (p.Gly497Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301277C>A | CA438369015 | WFS1 | c.1518C>A (p.Gly506=) c.1459C>A c.1482C>A (p.Gly494=) c.1233C>A (p.Gly411=) c.1141C>A (p.Pro381Thr) n.1667C>A c.1491C>A (p.Gly497=) | dbSNP |
| 4 | g.6301277C= | CA1435773078 | WFS1 | c.1518C= (p.Gly506=) c.1459C= c.1482C= (p.Gly494=) c.1233C= (p.Gly411=) c.1141C= (p.Pro381=) n.1667C= c.1491C= (p.Gly497=) | |
| 4 | g.6301277C>G | CA438369014 | WFS1 | c.1518C>G (p.Gly506=) c.1459C>G c.1482C>G (p.Gly494=) c.1233C>G (p.Gly411=) c.1141C>G (p.Pro381Ala) n.1667C>G c.1491C>G (p.Gly497=) | dbSNP |
| 4 | g.6301277C>T | CA438369013 | WFS1 | c.1518C>T (p.Gly506=) c.1459C>T c.1482C>T (p.Gly494=) c.1233C>T (p.Gly411=) c.1141C>T (p.Pro381Ser) n.1667C>T c.1491C>T (p.Gly497=) | gnomAD v4 |
| 4 | g.6301278C>A | CA356175138 | WFS1 | c.1519C>A (p.His507Asn) c.1460C>A c.1483C>A (p.His495Asn) c.1234C>A (p.His412Asn) c.1142C>A (p.Pro381Gln) n.1668C>A c.1492C>A (p.His498Asn) | |
| 4 | g.6301278C= | CA1435773081 | WFS1 | c.1519C= (p.His507=) c.1460C= c.1483C= (p.His495=) c.1234C= (p.His412=) c.1142C= (p.Pro381=) n.1668C= c.1492C= (p.His498=) | |
| 4 | g.6301278C>G | CA2839371 | WFS1 | c.1519C>G (p.His507Asp) c.1460C>G c.1483C>G (p.His495Asp) c.1234C>G (p.His412Asp) c.1142C>G (p.Pro381Arg) n.1668C>G c.1492C>G (p.His498Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301278C>T | CA2839370 | WFS1 | c.1519C>T (p.His507Tyr) c.1460C>T c.1483C>T (p.His495Tyr) c.1234C>T (p.His412Tyr) c.1142C>T (p.Pro381Leu) n.1668C>T c.1492C>T (p.His498Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301279A>C | CA356175142 | WFS1 | c.1520A>C (p.His507Pro) c.1461A>C c.1484A>C (p.His495Pro) c.1235A>C (p.His412Pro) c.1143A>C (p.Pro381=) n.1669A>C c.1493A>C (p.His498Pro) | |
| 4 | g.6301279A>G | CA356175144 | WFS1 | c.1520A>G (p.His507Arg) c.1461A>G c.1484A>G (p.His495Arg) c.1235A>G (p.His412Arg) c.1143A>G (p.Pro381=) n.1669A>G c.1493A>G (p.His498Arg) | |
| 4 | g.6301279A>T | CA356175146 | WFS1 | c.1520A>T (p.His507Leu) c.1461A>T c.1484A>T (p.His495Leu) c.1235A>T (p.His412Leu) c.1143A>T (p.Pro381=) n.1669A>T c.1493A>T (p.His498Leu) | |
| 4 | g.6301280C>A | CA356175148 | WFS1 | c.1521C>A (p.His507Gln) c.1462C>A c.1485C>A (p.His495Gln) c.1236C>A (p.His412Gln) c.1144C>A (p.Pro382Thr) n.1670C>A c.1494C>A (p.His498Gln) | |
| 4 | g.6301280C= | CA1435773086 | WFS1 | c.1521C= (p.His507=) c.1462C= c.1485C= (p.His495=) c.1236C= (p.His412=) c.1144C= (p.Pro382=) n.1670C= c.1494C= (p.His498=) | |
| 4 | g.6301280C>G | CA91796274 | WFS1 | c.1521C>G (p.His507Gln) c.1462C>G c.1485C>G (p.His495Gln) c.1236C>G (p.His412Gln) c.1144C>G (p.Pro382Ala) n.1670C>G c.1494C>G (p.His498Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301280C>T | CA2839372 | WFS1 | c.1521C>T (p.His507=) c.1462C>T c.1485C>T (p.His495=) c.1236C>T (p.His412=) c.1144C>T (p.Pro382Ser) n.1670C>T c.1494C>T (p.His498=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301281C>A | CA2839373 | WFS1 | c.1522C>A (p.Leu508Met) c.1463C>A c.1486C>A (p.Leu496Met) c.1237C>A (p.Leu413Met) c.1145C>A (p.Pro382His) n.1671C>A c.1495C>A (p.Leu499Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301281C= | CA1435773092 | WFS1 | c.1522C= (p.Leu508=) c.1463C= c.1486C= (p.Leu496=) c.1237C= (p.Leu413=) c.1145C= (p.Pro382=) n.1671C= c.1495C= (p.Leu499=) | |
| 4 | g.6301281C>G | CA356175151 | WFS1 | c.1522C>G (p.Leu508Val) c.1463C>G c.1486C>G (p.Leu496Val) c.1237C>G (p.Leu413Val) c.1145C>G (p.Pro382Arg) n.1671C>G c.1495C>G (p.Leu499Val) | |
| 4 | g.6301281C>T | CA438369022 | WFS1 | c.1522C>T (p.Leu508=) c.1463C>T c.1486C>T (p.Leu496=) c.1237C>T (p.Leu413=) c.1145C>T (p.Pro382Leu) n.1671C>T c.1495C>T (p.Leu499=) | |
| 4 | g.6301282T>A | CA356175153 | WFS1 | c.1523T>A (p.Leu508Gln) c.1464T>A c.1487T>A (p.Leu496Gln) c.1238T>A (p.Leu413Gln) c.1146T>A (p.Pro382=) n.1672T>A c.1496T>A (p.Leu499Gln) | |
| 4 | g.6301282T>C | CA356175154 | WFS1 | c.1523T>C (p.Leu508Pro) c.1464T>C c.1487T>C (p.Leu496Pro) c.1238T>C (p.Leu413Pro) c.1146T>C (p.Pro382=) n.1672T>C c.1496T>C (p.Leu499Pro) | gnomAD v4 |
| 4 | g.6301282T>G | CA356175156 | WFS1 | c.1523T>G (p.Leu508Arg) c.1464T>G c.1487T>G (p.Leu496Arg) c.1238T>G (p.Leu413Arg) c.1146T>G (p.Pro382=) n.1672T>G c.1496T>G (p.Leu499Arg) | gnomAD v4 |
| 4 | g.6301283G>A | CA438369026 | WFS1 | c.1524G>A (p.Leu508=) c.1465G>A c.1488G>A (p.Leu496=) c.1239G>A (p.Leu413=) c.1147G>A (p.Gly383Ser) n.1673G>A c.1497G>A (p.Leu499=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301283G>C | CA438369028 | WFS1 | c.1524G>C (p.Leu508=) c.1465G>C c.1488G>C (p.Leu496=) c.1239G>C (p.Leu413=) c.1147G>C (p.Gly383Arg) n.1673G>C c.1497G>C (p.Leu499=) | gnomAD v3 gnomAD v4 |
| 4 | g.6301283G= | CA1435773096 | WFS1 | c.1524G= (p.Leu508=) c.1465G= c.1488G= (p.Leu496=) c.1239G= (p.Leu413=) c.1147G= (p.Gly383=) n.1673G= c.1497G= (p.Leu499=) | |
| 4 | g.6301283G>T | CA438369029 | WFS1 | c.1524G>T (p.Leu508=) c.1465G>T c.1488G>T (p.Leu496=) c.1239G>T (p.Leu413=) c.1147G>T (p.Gly383Cys) n.1673G>T c.1497G>T (p.Leu499=) | gnomAD v4 |
| 4 | g.6301284del | CA2669843438 | WFS1 | c.1525del (p.Val509SerfsTer25) c.1466del c.1489del (p.Val497SerfsTer25) c.1240del (p.Val414SerfsTer25) c.1148del (p.Gly383ValfsTer?) n.1674del c.1498del (p.Val500SerfsTer25) | gnomAD v4 |
| 4 | g.6301283_6301286delinsGGTC | CA1435773097 | WFS1 | c.1524_1527delinsGGTC (p.Leu508=) c.1465_1468delinsGGTC c.1488_1491delinsGGTC (p.Leu496=) c.1239_1242delinsGGTC (p.Leu413=) c.1147_1150delinsGGTC (p.Gly383=) n.1673_1676delinsGGTC c.1497_1500delinsGGTC (p.Leu499=) | |
| 4 | g.6301284G>A | CA356175161 | WFS1 | c.1525G>A (p.Val509Ile) c.1466G>A c.1489G>A (p.Val497Ile) c.1240G>A (p.Val414Ile) c.1148G>A (p.Gly383Asp) n.1674G>A c.1498G>A (p.Val500Ile) | gnomAD v4 |
| 4 | g.6301284G>C | CA2839374 | WFS1 | c.1525G>C (p.Val509Leu) c.1466G>C c.1489G>C (p.Val497Leu) c.1240G>C (p.Val414Leu) c.1148G>C (p.Gly383Ala) n.1674G>C c.1498G>C (p.Val500Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301284G= | CA1435773100 | WFS1 | c.1525G= (p.Val509=) c.1466G= c.1489G= (p.Val497=) c.1240G= (p.Val414=) c.1148G= (p.Gly383=) n.1674G= c.1498G= (p.Val500=) | |
| 4 | g.6301284G>T | CA356175158 | WFS1 | c.1525G>T (p.Val509Phe) c.1466G>T c.1489G>T (p.Val497Phe) c.1240G>T (p.Val414Phe) c.1148G>T (p.Gly383Val) n.1674G>T c.1498G>T (p.Val500Phe) | gnomAD v4 |
| 4 | g.6301287_6301289del | CA549707917 | WFS1 | c.1528_1530del (p.Val510del) c.1469_1471del c.1492_1494del (p.Val498del) c.1243_1245del (p.Val415del) c.1151_1153del (p.Arg384del) n.1677_1679del c.1501_1503del (p.Val501del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301285T>A | CA356175163 | WFS1 | c.1526T>A (p.Val509Asp) c.1467T>A c.1490T>A (p.Val497Asp) c.1241T>A (p.Val414Asp) c.1149T>A (p.Gly383=) n.1675T>A c.1499T>A (p.Val500Asp) | |
| 4 | g.6301285T>C | CA356175166 | WFS1 | c.1526T>C (p.Val509Ala) c.1467T>C c.1490T>C (p.Val497Ala) c.1241T>C (p.Val414Ala) c.1149T>C (p.Gly383=) n.1675T>C c.1499T>C (p.Val500Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301285T>G | CA356175168 | WFS1 | c.1526T>G (p.Val509Gly) c.1467T>G c.1490T>G (p.Val497Gly) c.1241T>G (p.Val414Gly) c.1149T>G (p.Gly383=) n.1675T>G c.1499T>G (p.Val500Gly) | |
| 4 | g.6301285T= | CA1435773104 | WFS1 | c.1526T= (p.Val509=) c.1467T= c.1490T= (p.Val497=) c.1241T= (p.Val414=) c.1149T= (p.Gly383=) n.1675T= c.1499T= (p.Val500=) | |
| 4 | g.6301286C>A | CA438369034 | WFS1 | c.1527C>A (p.Val509=) c.1468C>A c.1491C>A (p.Val497=) c.1242C>A (p.Val414=) c.1150C>A (p.Arg384Ser) n.1676C>A c.1500C>A (p.Val500=) | gnomAD v4 |
| 4 | g.6301286C= | CA1435773110 | WFS1 | c.1527C= (p.Val509=) c.1468C= c.1491C= (p.Val497=) c.1242C= (p.Val414=) c.1150C= (p.Arg384=) n.1676C= c.1500C= (p.Val500=) | |
| 4 | g.6301286C>G | CA438369036 | WFS1 | c.1527C>G (p.Val509=) c.1468C>G c.1491C>G (p.Val497=) c.1242C>G (p.Val414=) c.1150C>G (p.Arg384Gly) n.1676C>G c.1500C>G (p.Val500=) | |
| 4 | g.6301286C>T | CA295572 | WFS1 | c.1527C>T (p.Val509=) c.1468C>T c.1491C>T (p.Val497=) c.1242C>T (p.Val414=) c.1150C>T (p.Arg384Cys) n.1676C>T c.1500C>T (p.Val500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301286_6301287insT | CA2580071771 | WFS1 | c.1527_1528insT (p.Val510CysfsTer?) c.1468_1469insT c.1491_1492insT (p.Val498CysfsTer?) c.1242_1243insT (p.Val415CysfsTer?) c.1150_1151insT (p.Arg384LeufsTer25) n.1676_1677insT c.1500_1501insT (p.Val501CysfsTer?) | ClinVar |
| 4 | g.6301287G>A | CA2839375 | WFS1 | c.1528G>A (p.Val510Ile) c.1469G>A c.1492G>A (p.Val498Ile) c.1243G>A (p.Val415Ile) c.1151G>A (p.Arg384His) n.1677G>A c.1501G>A (p.Val501Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301287G>C | CA356175169 | WFS1 | c.1528G>C (p.Val510Leu) c.1469G>C c.1492G>C (p.Val498Leu) c.1243G>C (p.Val415Leu) c.1151G>C (p.Arg384Pro) n.1677G>C c.1501G>C (p.Val501Leu) | ClinVar dbSNP |
| 4 | g.6301287G= | CA1435773115 | WFS1 | c.1528G= (p.Val510=) c.1469G= c.1492G= (p.Val498=) c.1243G= (p.Val415=) c.1151G= (p.Arg384=) n.1677G= c.1501G= (p.Val501=) | |
| 4 | g.6301287G>T | CA356175170 | WFS1 | c.1528G>T (p.Val510Phe) c.1469G>T c.1492G>T (p.Val498Phe) c.1243G>T (p.Val415Phe) c.1151G>T (p.Arg384Leu) n.1677G>T c.1501G>T (p.Val501Phe) | gnomAD v4 |
| 4 | g.6301287_6301290delinsGTCC | CA1435773116 | WFS1 | c.1528_1531delinsGTCC (p.Val510=) c.1469_1472delinsGTCC c.1492_1495delinsGTCC (p.Val498=) c.1243_1246delinsGTCC (p.Val415=) c.1151_1154delinsGTCC (p.Arg384=) n.1677_1680delinsGTCC c.1501_1504delinsGTCC (p.Val501=) | |
| 4 | g.6301288T>A | CA356175173 | WFS1 | c.1529T>A (p.Val510Asp) c.1470T>A c.1493T>A (p.Val498Asp) c.1244T>A (p.Val415Asp) c.1152T>A (p.Arg384=) n.1678T>A c.1502T>A (p.Val501Asp) | |
| 4 | g.6301288T>C | CA356175174 | WFS1 | c.1529T>C (p.Val510Ala) c.1470T>C c.1493T>C (p.Val498Ala) c.1244T>C (p.Val415Ala) c.1152T>C (p.Arg384=) n.1678T>C c.1502T>C (p.Val501Ala) | |
| 4 | g.6301288T>G | CA356175176 | WFS1 | c.1529T>G (p.Val510Gly) c.1470T>G c.1493T>G (p.Val498Gly) c.1244T>G (p.Val415Gly) c.1152T>G (p.Arg384=) n.1678T>G c.1502T>G (p.Val501Gly) | |
| 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.6301289C>A | CA438369045 | WFS1 | c.1530C>A (p.Val510=) c.1471C>A c.1494C>A (p.Val498=) c.1245C>A (p.Val415=) c.1153C>A (p.Pro385Thr) n.1679C>A c.1503C>A (p.Val501=) | |
| 4 | g.6301289C= | CA1435773119 | WFS1 | c.1530C= (p.Val510=) c.1471C= c.1494C= (p.Val498=) c.1245C= (p.Val415=) c.1153C= (p.Pro385=) n.1679C= c.1503C= (p.Val501=) | |
| 4 | g.6301289C>G | CA438369044 | WFS1 | c.1530C>G (p.Val510=) c.1471C>G c.1494C>G (p.Val498=) c.1245C>G (p.Val415=) c.1153C>G (p.Pro385Ala) n.1679C>G c.1503C>G (p.Val501=) | dbSNP |
| 4 | g.6301289C>T | CA2839377 | WFS1 | c.1530C>T (p.Val510=) c.1471C>T c.1494C>T (p.Val498=) c.1245C>T (p.Val415=) c.1153C>T (p.Pro385Ser) n.1679C>T c.1503C>T (p.Val501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301290C>A | CA356175182 | WFS1 | c.1531C>A (p.Leu511Ile) c.1472C>A c.1495C>A (p.Leu499Ile) c.1246C>A (p.Leu416Ile) c.1154C>A (p.Pro385His) n.1680C>A c.1504C>A (p.Leu502Ile) | ClinVar dbSNP |
| 4 | g.6301290C= | CA1435773124 | WFS1 | c.1531C= (p.Leu511=) c.1472C= c.1495C= (p.Leu499=) c.1246C= (p.Leu416=) c.1154C= (p.Pro385=) n.1680C= c.1504C= (p.Leu502=) | |
| 4 | g.6301290C>G | CA356175180 | WFS1 | c.1531C>G (p.Leu511Val) c.1472C>G c.1495C>G (p.Leu499Val) c.1246C>G (p.Leu416Val) c.1154C>G (p.Pro385Arg) n.1680C>G c.1504C>G (p.Leu502Val) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301290C>T | CA282572 | WFS1 | c.1531C>T (p.Leu511Phe) c.1472C>T c.1495C>T (p.Leu499Phe) c.1246C>T (p.Leu416Phe) c.1154C>T (p.Pro385Leu) n.1680C>T c.1504C>T (p.Leu502Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301291T>A | CA356175185 | WFS1 | c.1532T>A (p.Leu511His) c.1473T>A c.1496T>A (p.Leu499His) c.1247T>A (p.Leu416His) c.1155T>A (p.Pro385=) n.1681T>A c.1505T>A (p.Leu502His) | |
| 4 | g.6301291T>C | CA356175186 | WFS1 | c.1532T>C (p.Leu511Pro) c.1473T>C c.1496T>C (p.Leu499Pro) c.1247T>C (p.Leu416Pro) c.1155T>C (p.Pro385=) n.1681T>C c.1505T>C (p.Leu502Pro) | |
| 4 | g.6301291T>G | CA356175188 | WFS1 | c.1532T>G (p.Leu511Arg) c.1473T>G c.1496T>G (p.Leu499Arg) c.1247T>G (p.Leu416Arg) c.1155T>G (p.Pro385=) n.1681T>G c.1505T>G (p.Leu502Arg) | |
| 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 |