| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301925_6301931delinsTGACATC | CA1435772058 | WFS1 | c.2166_2172delinsTGACATC (p.Thr722=) c.2107_2113delinsTGACATC c.2130_2136delinsTGACATC (p.Thr710=) c.1881_1887delinsTGACATC (p.Thr627=) c.1789_1795delinsTGACATC (n.1789_1795delinsTGACATC) n.2315_2321delinsTGACATC c.2139_2145delinsTGACATC (p.Thr713=) | |
| 4 | g.6301930_6301935del | CA1435772060 | WFS1 | c.2171_2176del (p.Ile724_Asp725del) c.2112_2117del c.2135_2140del (p.Ile712_Asp713del) c.1886_1891del (p.Ile629_Asp630del) c.1794_1799del (n.1794_1799del) n.2320_2325del c.2144_2149del (p.Ile715_Asp716del) | dbSNP |
| 4 | g.6301929A= | CA1435772064 | WFS1 | c.2170A= (p.Ile724=) c.2111A= c.2134A= (p.Ile712=) c.1885A= (p.Ile629=) c.1793A= (n.1793A=) n.2319A= c.2143A= (p.Ile715=) | |
| 4 | g.6301929A>C | CA356177827 | WFS1 | c.2170A>C (p.Ile724Leu) c.2111A>C c.2134A>C (p.Ile712Leu) c.1885A>C (p.Ile629Leu) c.1793A>C (n.1793A>C) n.2319A>C c.2143A>C (p.Ile715Leu) | gnomAD v4 |
| 4 | g.6301929A>G | CA2839611 | WFS1 | c.2170A>G (p.Ile724Val) c.2111A>G c.2134A>G (p.Ile712Val) c.1885A>G (p.Ile629Val) c.1793A>G (n.1793A>G) n.2319A>G c.2143A>G (p.Ile715Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301929A>T | CA356177830 | WFS1 | c.2170A>T (p.Ile724Phe) c.2111A>T c.2134A>T (p.Ile712Phe) c.1885A>T (p.Ile629Phe) c.1793A>T (n.1793A>T) n.2319A>T c.2143A>T (p.Ile715Phe) | |
| 4 | g.6301930T>A | CA356177832 | WFS1 | c.2171T>A (p.Ile724Asn) c.2112T>A c.2135T>A (p.Ile712Asn) c.1886T>A (p.Ile629Asn) c.1794T>A (n.1794T>A) n.2320T>A c.2144T>A (p.Ile715Asn) | |
| 4 | g.6301930T>C | CA356177834 | WFS1 | c.2171T>C (p.Ile724Thr) c.2112T>C c.2135T>C (p.Ile712Thr) c.1886T>C (p.Ile629Thr) c.1794T>C (n.1794T>C) n.2320T>C c.2144T>C (p.Ile715Thr) | ClinVar dbSNP |
| 4 | g.6301930T>G | CA356177835 | WFS1 | c.2171T>G (p.Ile724Ser) c.2112T>G c.2135T>G (p.Ile712Ser) c.1886T>G (p.Ile629Ser) c.1794T>G (n.1794T>G) n.2320T>G c.2144T>G (p.Ile715Ser) | ClinVar |
| 4 | g.6301930T= | CA1435772065 | WFS1 | c.2171T= (p.Ile724=) c.2112T= c.2135T= (p.Ile712=) c.1886T= (p.Ile629=) c.1794T= (n.1794T=) n.2320T= c.2144T= (p.Ile715=) | |
| 4 | g.6301931C>A | CA2839613 | WFS1 | c.2172C>A (p.Ile724=) c.2113C>A c.2136C>A (p.Ile712=) c.1887C>A (p.Ile629=) c.1795C>A (n.1795C>A) n.2321C>A c.2145C>A (p.Ile715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301931C= | CA1435772068 | WFS1 | c.2172C= (p.Ile724=) c.2113C= c.2136C= (p.Ile712=) c.1887C= (p.Ile629=) c.1795C= (n.1795C=) n.2321C= c.2145C= (p.Ile715=) | |
| 4 | g.6301931C>G | CA356177838 | WFS1 | c.2172C>G (p.Ile724Met) c.2113C>G c.2136C>G (p.Ile712Met) c.1887C>G (p.Ile629Met) c.1795C>G (n.1795C>G) n.2321C>G c.2145C>G (p.Ile715Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301931C>T | CA2839612 | WFS1 | c.2172C>T (p.Ile724=) c.2113C>T c.2136C>T (p.Ile712=) c.1887C>T (p.Ile629=) c.1795C>T (n.1795C>T) n.2321C>T c.2145C>T (p.Ile715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301932_6301934del | CA2586973644 | WFS1 | c.2173_2175del (p.Asp725del) c.2114_2116del c.2137_2139del (p.Asp713del) c.1888_1890del (p.Asp630del) c.1796_1798del (n.1796_1798del) n.2322_2324del c.2146_2148del (p.Asp716del) | |
| 4 | g.6301932G>A | CA2839614 | WFS1 | c.2173G>A (p.Asp725Asn) c.2114G>A c.2137G>A (p.Asp713Asn) c.1888G>A (p.Asp630Asn) c.1796G>A (n.1796G>A) n.2322G>A c.2146G>A (p.Asp716Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301932G>C | CA356177841 | WFS1 | c.2173G>C (p.Asp725His) c.2114G>C c.2137G>C (p.Asp713His) c.1888G>C (p.Asp630His) c.1796G>C (n.1796G>C) n.2322G>C c.2146G>C (p.Asp716His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301932G= | CA1435772071 | WFS1 | c.2173G= (p.Asp725=) c.2114G= c.2137G= (p.Asp713=) c.1888G= (p.Asp630=) c.1796G= (n.1796G=) n.2322G= c.2146G= (p.Asp716=) | |
| 4 | g.6301932G>T | CA356177844 | WFS1 | c.2173G>T (p.Asp725Tyr) c.2114G>T c.2137G>T (p.Asp713Tyr) c.1888G>T (p.Asp630Tyr) c.1796G>T (n.1796G>T) n.2322G>T c.2146G>T (p.Asp716Tyr) | gnomAD v4 |
| 4 | g.6301932_6301956delinsGACAACAGCGCCGAGTCTGCCATCA | CA1435772070 | WFS1 | c.2173_2197delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp725=) c.2114_2138delinsGACAACAGCGCCGAGTCTGCCATCA c.2137_2161delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp713=) c.1888_1912delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp630=) c.1796_1820delinsGACAACAGCGCCGAGTCTGCCATCA (n.1796_1820delinsGACAACAGCGCCGAGTCTGCCATCA) n.2322_2346delinsGACAACAGCGCCGAGTCTGCCATCA c.2146_2170delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp716=) | |
| 4 | g.6301933A= | CA1435772074 | WFS1 | c.2174A= (p.Asp725=) c.2115A= c.2138A= (p.Asp713=) c.1889A= (p.Asp630=) c.1797A= (n.1797A=) n.2323A= c.2147A= (p.Asp716=) | |
| 4 | g.6301933A>C | CA356177847 | WFS1 | c.2174A>C (p.Asp725Ala) c.2115A>C c.2138A>C (p.Asp713Ala) c.1889A>C (p.Asp630Ala) c.1797A>C (n.1797A>C) n.2323A>C c.2147A>C (p.Asp716Ala) | |
| 4 | g.6301933A>G | CA2839616 | WFS1 | c.2174A>G (p.Asp725Gly) c.2115A>G c.2138A>G (p.Asp713Gly) c.1889A>G (p.Asp630Gly) c.1797A>G (n.1797A>G) n.2323A>G c.2147A>G (p.Asp716Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301933A>T | CA356177849 | WFS1 | c.2174A>T (p.Asp725Val) c.2115A>T c.2138A>T (p.Asp713Val) c.1889A>T (p.Asp630Val) c.1797A>T (n.1797A>T) n.2323A>T c.2147A>T (p.Asp716Val) | gnomAD v4 |
| 4 | g.6301936_6301959dup | CA549707912 | WFS1 | c.2177_2200dup (p.Asn733_Met734insAsnSerAlaGluSerAlaIleAsn) c.2118_2141dup c.2141_2164dup (p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn) c.1892_1915dup (p.Asn638_Met639insAsnSerAlaGluSerAlaIleAsn) c.1800_1823dup (n.1800_1823dup) n.2326_2349dup c.2150_2173dup (p.Asn724_Met725insAsnSerAlaGluSerAlaIleAsn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301936_6301959del | CA2839615 | WFS1 | c.2177_2200del (p.Asn726_Asn733del) c.2118_2141del c.2141_2164del (p.Asn714_Asn721del) c.1892_1915del (p.Asn631_Asn638del) c.1800_1823del (n.1800_1823del) n.2326_2349del c.2150_2173del (p.Asn717_Asn724del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301934C>A | CA356177852 | WFS1 | c.2175C>A (p.Asp725Glu) c.2116C>A c.2139C>A (p.Asp713Glu) c.1890C>A (p.Asp630Glu) c.1798C>A (n.1798C>A) n.2324C>A c.2148C>A (p.Asp716Glu) | |
| 4 | g.6301934C>G | CA356177853 | WFS1 | c.2175C>G (p.Asp725Glu) c.2116C>G c.2139C>G (p.Asp713Glu) c.1890C>G (p.Asp630Glu) c.1798C>G (n.1798C>G) n.2324C>G c.2148C>G (p.Asp716Glu) | |
| 4 | g.6301934C>T | CA438368591 | WFS1 | c.2175C>T (p.Asp725=) c.2116C>T c.2139C>T (p.Asp713=) c.1890C>T (p.Asp630=) c.1798C>T (n.1798C>T) n.2324C>T c.2148C>T (p.Asp716=) | gnomAD v4 |
| 4 | g.6301935A>C | CA356177859 | WFS1 | c.2176A>C (p.Asn726His) c.2117A>C c.2140A>C (p.Asn714His) c.1891A>C (p.Asn631His) c.1799A>C (n.1799A>C) n.2325A>C c.2149A>C (p.Asn717His) | |
| 4 | g.6301935A>G | CA356177855 | WFS1 | c.2176A>G (p.Asn726Asp) c.2117A>G c.2140A>G (p.Asn714Asp) c.1891A>G (p.Asn631Asp) c.1799A>G (n.1799A>G) n.2325A>G c.2149A>G (p.Asn717Asp) | ClinVar dbSNP |
| 4 | g.6301935A>T | CA356177857 | WFS1 | c.2176A>T (p.Asn726Tyr) c.2117A>T c.2140A>T (p.Asn714Tyr) c.1891A>T (p.Asn631Tyr) c.1799A>T (n.1799A>T) n.2325A>T c.2149A>T (p.Asn717Tyr) | |
| 4 | g.6301936A= | CA1435772076 | WFS1 | c.2177A= (p.Asn726=) c.2118A= c.2141A= (p.Asn714=) c.1892A= (p.Asn631=) c.1800A= (n.1800A=) n.2326A= c.2150A= (p.Asn717=) | |
| 4 | g.6301936A>C | CA261752 | WFS1 | c.2177A>C (p.Asn726Thr) c.2118A>C c.2141A>C (p.Asn714Thr) c.1892A>C (p.Asn631Thr) c.1800A>C (n.1800A>C) n.2326A>C c.2150A>C (p.Asn717Thr) | ClinVar dbSNP |
| 4 | g.6301936A>G | CA356177861 | WFS1 | c.2177A>G (p.Asn726Ser) c.2118A>G c.2141A>G (p.Asn714Ser) c.1892A>G (p.Asn631Ser) c.1800A>G (n.1800A>G) n.2326A>G c.2150A>G (p.Asn717Ser) | |
| 4 | g.6301936A>T | CA356177863 | WFS1 | c.2177A>T (p.Asn726Ile) c.2118A>T c.2141A>T (p.Asn714Ile) c.1892A>T (p.Asn631Ile) c.1800A>T (n.1800A>T) n.2326A>T c.2150A>T (p.Asn717Ile) | |
| 4 | g.6301937C>A | CA356177865 | WFS1 | c.2178C>A (p.Asn726Lys) c.2119C>A c.2142C>A (p.Asn714Lys) c.1893C>A (p.Asn631Lys) c.1801C>A (n.1801C>A) n.2327C>A c.2151C>A (p.Asn717Lys) | gnomAD v4 COSMIC |
| 4 | g.6301937C= | CA1435772078 | WFS1 | c.2178C= (p.Asn726=) c.2119C= c.2142C= (p.Asn714=) c.1893C= (p.Asn631=) c.1801C= (n.1801C=) n.2327C= c.2151C= (p.Asn717=) | |
| 4 | g.6301937C>G | CA356177866 | WFS1 | c.2178C>G (p.Asn726Lys) c.2119C>G c.2142C>G (p.Asn714Lys) c.1893C>G (p.Asn631Lys) c.1801C>G (n.1801C>G) n.2327C>G c.2151C>G (p.Asn717Lys) | ClinVar |
| 4 | g.6301937C>T | CA438368594 | WFS1 | c.2178C>T (p.Asn726=) c.2119C>T c.2142C>T (p.Asn714=) c.1893C>T (p.Asn631=) c.1801C>T (n.1801C>T) n.2327C>T c.2151C>T (p.Asn717=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301938A= | CA1435772080 | WFS1 | c.2179A= (p.Ser727=) c.2120A= c.2143A= (p.Ser715=) c.1894A= (p.Ser632=) c.1802A= (n.1802A=) n.2328A= c.2152A= (p.Ser718=) | |
| 4 | g.6301938A>C | CA356177870 | WFS1 | c.2179A>C (p.Ser727Arg) c.2120A>C c.2143A>C (p.Ser715Arg) c.1894A>C (p.Ser632Arg) c.1802A>C (n.1802A>C) n.2328A>C c.2152A>C (p.Ser718Arg) | |
| 4 | g.6301938A>G | CA2839617 | WFS1 | c.2179A>G (p.Ser727Gly) c.2120A>G c.2143A>G (p.Ser715Gly) c.1894A>G (p.Ser632Gly) c.1802A>G (n.1802A>G) n.2328A>G c.2152A>G (p.Ser718Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301938A>T | CA356177869 | WFS1 | c.2179A>T (p.Ser727Cys) c.2120A>T c.2143A>T (p.Ser715Cys) c.1894A>T (p.Ser632Cys) c.1802A>T (n.1802A>T) n.2328A>T c.2152A>T (p.Ser718Cys) | |
| 4 | g.6301939G>A | CA356177875 | WFS1 | c.2180G>A (p.Ser727Asn) c.2121G>A c.2144G>A (p.Ser715Asn) c.1895G>A (p.Ser632Asn) c.1803G>A (n.1803G>A) n.2329G>A c.2153G>A (p.Ser718Asn) | ClinVar |
| 4 | g.6301939G>C | CA356177876 | WFS1 | c.2180G>C (p.Ser727Thr) c.2121G>C c.2144G>C (p.Ser715Thr) c.1895G>C (p.Ser632Thr) c.1803G>C (n.1803G>C) n.2329G>C c.2153G>C (p.Ser718Thr) | |
| 4 | g.6301939G= | CA1435772082 | WFS1 | c.2180G= (p.Ser727=) c.2121G= c.2144G= (p.Ser715=) c.1895G= (p.Ser632=) c.1803G= (n.1803G=) n.2329G= c.2153G= (p.Ser718=) | |
| 4 | g.6301939G>T | CA2839618 | WFS1 | c.2180G>T (p.Ser727Ile) c.2121G>T c.2144G>T (p.Ser715Ile) c.1895G>T (p.Ser632Ile) c.1803G>T (n.1803G>T) n.2329G>T c.2153G>T (p.Ser718Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301939_6301942delinsGCGC | CA1435772083 | WFS1 | c.2180_2183delinsGCGC (p.Ser727=) c.2121_2124delinsGCGC c.2144_2147delinsGCGC (p.Ser715=) c.1895_1898delinsGCGC (p.Ser632=) c.1803_1806delinsGCGC (n.1803_1806delinsGCGC) n.2329_2332delinsGCGC c.2153_2156delinsGCGC (p.Ser718=) | |
| 4 | g.6301940C>A | CA356177879 | WFS1 | c.2181C>A (p.Ser727Arg) c.2122C>A c.2145C>A (p.Ser715Arg) c.1896C>A (p.Ser632Arg) c.1804C>A (n.1804C>A) n.2330C>A c.2154C>A (p.Ser718Arg) | |
| 4 | g.6301940C= | CA1435772087 | WFS1 | c.2181C= (p.Ser727=) c.2122C= c.2145C= (p.Ser715=) c.1896C= (p.Ser632=) c.1804C= (n.1804C=) n.2330C= c.2154C= (p.Ser718=) | |
| 4 | g.6301940C>G | CA2839620 | WFS1 | c.2181C>G (p.Ser727Arg) c.2122C>G c.2145C>G (p.Ser715Arg) c.1896C>G (p.Ser632Arg) c.1804C>G (n.1804C>G) n.2330C>G c.2154C>G (p.Ser718Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301940C>T | CA2839619 | WFS1 | c.2181C>T (p.Ser727=) c.2122C>T c.2145C>T (p.Ser715=) c.1896C>T (p.Ser632=) c.1804C>T (n.1804C>T) n.2330C>T c.2154C>T (p.Ser718=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301942_6301944del | CA1435772086 | WFS1 | c.2183_2185del (p.Ala728del) c.2124_2126del c.2147_2149del (p.Ala716del) c.1898_1900del (p.Ala633del) c.1806_1808del (n.1806_1808del) n.2332_2334del c.2156_2158del (p.Ala719del) | dbSNP |
| 4 | g.6301941G>A | CA253197 | WFS1 | c.2182G>A (p.Ala728Thr) c.2123G>A c.2146G>A (p.Ala716Thr) c.1897G>A (p.Ala633Thr) c.1805G>A (n.1805G>A) n.2331G>A c.2155G>A (p.Ala719Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301941G>C | CA356177886 | WFS1 | c.2182G>C (p.Ala728Pro) c.2123G>C c.2146G>C (p.Ala716Pro) c.1897G>C (p.Ala633Pro) c.1805G>C (n.1805G>C) n.2331G>C c.2155G>C (p.Ala719Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301941G= | CA1435772089 | WFS1 | c.2182G= (p.Ala728=) c.2123G= c.2146G= (p.Ala716=) c.1897G= (p.Ala633=) c.1805G= (n.1805G=) n.2331G= c.2155G= (p.Ala719=) | |
| 4 | g.6301941G>T | CA356177887 | WFS1 | c.2182G>T (p.Ala728Ser) c.2123G>T c.2146G>T (p.Ala716Ser) c.1897G>T (p.Ala633Ser) c.1805G>T (n.1805G>T) n.2331G>T c.2155G>T (p.Ala719Ser) | |
| 4 | g.6301942C>A | CA356177889 | WFS1 | c.2183C>A (p.Ala728Asp) c.2124C>A c.2147C>A (p.Ala716Asp) c.1898C>A (p.Ala633Asp) c.1806C>A (n.1806C>A) n.2332C>A c.2156C>A (p.Ala719Asp) | |
| 4 | g.6301942C= | CA1435772091 | WFS1 | c.2183C= (p.Ala728=) c.2124C= c.2147C= (p.Ala716=) c.1898C= (p.Ala633=) c.1806C= (n.1806C=) n.2332C= c.2156C= (p.Ala719=) | |
| 4 | g.6301942C>G | CA356177890 | WFS1 | c.2183C>G (p.Ala728Gly) c.2124C>G c.2147C>G (p.Ala716Gly) c.1898C>G (p.Ala633Gly) c.1806C>G (n.1806C>G) n.2332C>G c.2156C>G (p.Ala719Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301942C>T | CA356177892 | WFS1 | c.2183C>T (p.Ala728Val) c.2124C>T c.2147C>T (p.Ala716Val) c.1898C>T (p.Ala633Val) c.1806C>T (n.1806C>T) n.2332C>T c.2156C>T (p.Ala719Val) | gnomAD v4 |
| 4 | g.6301943C>A | CA438368598 | WFS1 | c.2184C>A (p.Ala728=) c.2125C>A c.2148C>A (p.Ala716=) c.1899C>A (p.Ala633=) c.1807C>A (n.1807C>A) n.2333C>A c.2157C>A (p.Ala719=) | gnomAD v4 |
| 4 | g.6301943C= | CA1435772093 | WFS1 | c.2184C= (p.Ala728=) c.2125C= c.2148C= (p.Ala716=) c.1899C= (p.Ala633=) c.1807C= (n.1807C=) n.2333C= c.2157C= (p.Ala719=) | |
| 4 | g.6301943C>G | CA438368600 | WFS1 | c.2184C>G (p.Ala728=) c.2125C>G c.2148C>G (p.Ala716=) c.1899C>G (p.Ala633=) c.1807C>G (n.1807C>G) n.2333C>G c.2157C>G (p.Ala719=) | gnomAD v4 |
| 4 | g.6301943C>T | CA2839621 | WFS1 | c.2184C>T (p.Ala728=) c.2125C>T c.2148C>T (p.Ala716=) c.1899C>T (p.Ala633=) c.1807C>T (n.1807C>T) n.2333C>T c.2157C>T (p.Ala719=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301944G>A | CA2839622 | WFS1 | c.2185G>A (p.Glu729Lys) c.2126G>A c.2149G>A (p.Glu717Lys) c.1900G>A (p.Glu634Lys) c.1808G>A (n.1808G>A) n.2334G>A c.2158G>A (p.Glu720Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301944G>C | CA356177897 | WFS1 | c.2185G>C (p.Glu729Gln) c.2126G>C c.2149G>C (p.Glu717Gln) c.1900G>C (p.Glu634Gln) c.1808G>C (n.1808G>C) n.2334G>C c.2158G>C (p.Glu720Gln) | COSMIC |
| 4 | g.6301944G= | CA1435772096 | WFS1 | c.2185G= (p.Glu729=) c.2126G= c.2149G= (p.Glu717=) c.1900G= (p.Glu634=) c.1808G= (n.1808G=) n.2334G= c.2158G= (p.Glu720=) | |
| 4 | g.6301944G>T | CA91796872 | WFS1 | c.2185G>T (p.Glu729Ter) c.2126G>T c.2149G>T (p.Glu717Ter) c.1900G>T (p.Glu634Ter) c.1808G>T (n.1808G>T) n.2334G>T c.2158G>T (p.Glu720Ter) | dbSNP |
| 4 | g.6301945A>C | CA356177899 | WFS1 | c.2186A>C (p.Glu729Ala) c.2127A>C c.2150A>C (p.Glu717Ala) c.1901A>C (p.Glu634Ala) c.1809A>C (n.1809A>C) n.2335A>C c.2159A>C (p.Glu720Ala) | |
| 4 | g.6301945A>G | CA356177901 | WFS1 | c.2186A>G (p.Glu729Gly) c.2127A>G c.2150A>G (p.Glu717Gly) c.1901A>G (p.Glu634Gly) c.1809A>G (n.1809A>G) n.2335A>G c.2159A>G (p.Glu720Gly) | dbSNP |
| 4 | g.6301945A>T | CA356177903 | WFS1 | c.2186A>T (p.Glu729Val) c.2127A>T c.2150A>T (p.Glu717Val) c.1901A>T (p.Glu634Val) c.1809A>T (n.1809A>T) n.2335A>T c.2159A>T (p.Glu720Val) | |
| 4 | g.6301945dup | CA2586973645 | WFS1 | c.2186dup (p.Ser730ValfsTer?) c.2127dup c.2150dup (p.Ser718ValfsTer?) c.1901dup (p.Ser635ValfsTer?) c.1809dup (n.1809dup) n.2335dup c.2159dup (p.Ser721ValfsTer?) | |
| 4 | g.6301946G>A | CA2839623 | WFS1 | c.2187G>A (p.Glu729=) c.2128G>A c.2151G>A (p.Glu717=) c.1902G>A (p.Glu634=) c.1810G>A (n.1810G>A) n.2336G>A c.2160G>A (p.Glu720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301946G>C | CA356177906 | WFS1 | c.2187G>C (p.Glu729Asp) c.2128G>C c.2151G>C (p.Glu717Asp) c.1902G>C (p.Glu634Asp) c.1810G>C (n.1810G>C) n.2336G>C c.2160G>C (p.Glu720Asp) | |
| 4 | g.6301946G= | CA1435772098 | WFS1 | c.2187G= (p.Glu729=) c.2128G= c.2151G= (p.Glu717=) c.1902G= (p.Glu634=) c.1810G= (n.1810G=) n.2336G= c.2160G= (p.Glu720=) | |
| 4 | g.6301946G>T | CA356177908 | WFS1 | c.2187G>T (p.Glu729Asp) c.2128G>T c.2151G>T (p.Glu717Asp) c.1902G>T (p.Glu634Asp) c.1810G>T (n.1810G>T) n.2336G>T c.2160G>T (p.Glu720Asp) | |
| 4 | g.6301947T>A | CA356177910 | WFS1 | c.2188T>A (p.Ser730Thr) c.2129T>A c.2152T>A (p.Ser718Thr) c.1903T>A (p.Ser635Thr) c.1811T>A (n.1811T>A) n.2337T>A c.2161T>A (p.Ser721Thr) | |
| 4 | g.6301947T>C | CA356177912 | WFS1 | c.2188T>C (p.Ser730Pro) c.2129T>C c.2152T>C (p.Ser718Pro) c.1903T>C (p.Ser635Pro) c.1811T>C (n.1811T>C) n.2337T>C c.2161T>C (p.Ser721Pro) | |
| 4 | g.6301947T>G | CA356177914 | WFS1 | c.2188T>G (p.Ser730Ala) c.2129T>G c.2152T>G (p.Ser718Ala) c.1903T>G (p.Ser635Ala) c.1811T>G (n.1811T>G) n.2337T>G c.2161T>G (p.Ser721Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301947T= | CA1435772099 | WFS1 | c.2188T= (p.Ser730=) c.2129T= c.2152T= (p.Ser718=) c.1903T= (p.Ser635=) c.1811T= (n.1811T=) n.2337T= c.2161T= (p.Ser721=) | |
| 4 | g.6301948C>A | CA356177916 | WFS1 | c.2189C>A (p.Ser730Tyr) c.2130C>A c.2153C>A (p.Ser718Tyr) c.1904C>A (p.Ser635Tyr) c.1812C>A (n.1812C>A) n.2338C>A c.2162C>A (p.Ser721Tyr) | |
| 4 | g.6301948C= | CA1435772101 | WFS1 | c.2189C= (p.Ser730=) c.2130C= c.2153C= (p.Ser718=) c.1904C= (p.Ser635=) c.1812C= (n.1812C=) n.2338C= c.2162C= (p.Ser721=) | |
| 4 | g.6301948C>G | CA356177917 | WFS1 | c.2189C>G (p.Ser730Cys) c.2130C>G c.2153C>G (p.Ser718Cys) c.1904C>G (p.Ser635Cys) c.1812C>G (n.1812C>G) n.2338C>G c.2162C>G (p.Ser721Cys) | |
| 4 | g.6301948C>T | CA356177922 | WFS1 | c.2189C>T (p.Ser730Phe) c.2130C>T c.2153C>T (p.Ser718Phe) c.1904C>T (p.Ser635Phe) c.1812C>T (n.1812C>T) n.2338C>T c.2162C>T (p.Ser721Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301950_6301963dup | CA2586973646 | WFS1 | c.2191_2204dup (p.Phe737SerfsTer?) c.2132_2145dup c.2155_2168dup (p.Phe725SerfsTer?) c.1906_1919dup (p.Phe642SerfsTer?) c.1814_1827dup (n.1814_1827dup) n.2340_2353dup c.2164_2177dup (p.Phe728SerfsTer?) | |
| 4 | g.6301949T>A | CA438368658 | WFS1 | c.2190T>A (p.Ser730=) c.2131T>A c.2154T>A (p.Ser718=) c.1905T>A (p.Ser635=) c.1813T>A (n.1813T>A) n.2339T>A c.2163T>A (p.Ser721=) | |
| 4 | g.6301949T>C | CA2839624 | WFS1 | c.2190T>C (p.Ser730=) c.2131T>C c.2154T>C (p.Ser718=) c.1905T>C (p.Ser635=) c.1813T>C (n.1813T>C) n.2339T>C c.2163T>C (p.Ser721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301949T>G | CA438368660 | WFS1 | c.2190T>G (p.Ser730=) c.2131T>G c.2154T>G (p.Ser718=) c.1905T>G (p.Ser635=) c.1813T>G (n.1813T>G) n.2339T>G c.2163T>G (p.Ser721=) | dbSNP gnomAD v4 |
| 4 | g.6301949T= | CA1435772103 | WFS1 | c.2190T= (p.Ser730=) c.2131T= c.2154T= (p.Ser718=) c.1905T= (p.Ser635=) c.1813T= (n.1813T=) n.2339T= c.2163T= (p.Ser721=) | |
| 4 | g.6301950G>A | CA356177926 | WFS1 | c.2191G>A (p.Ala731Thr) c.2132G>A c.2155G>A (p.Ala719Thr) c.1906G>A (p.Ala636Thr) c.1814G>A (n.1814G>A) n.2340G>A c.2164G>A (p.Ala722Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301950G>C | CA356177928 | WFS1 | c.2191G>C (p.Ala731Pro) c.2132G>C c.2155G>C (p.Ala719Pro) c.1906G>C (p.Ala636Pro) c.1814G>C (n.1814G>C) n.2340G>C c.2164G>C (p.Ala722Pro) | |
| 4 | g.6301950G= | CA1435772104 | WFS1 | c.2191G= (p.Ala731=) c.2132G= c.2155G= (p.Ala719=) c.1906G= (p.Ala636=) c.1814G= (n.1814G=) n.2340G= c.2164G= (p.Ala722=) | |
| 4 | g.6301950G>T | CA356177927 | WFS1 | c.2191G>T (p.Ala731Ser) c.2132G>T c.2155G>T (p.Ala719Ser) c.1906G>T (p.Ala636Ser) c.1814G>T (n.1814G>T) n.2340G>T c.2164G>T (p.Ala722Ser) | |
| 4 | g.6301951C>A | CA356177929 | WFS1 | c.2192C>A (p.Ala731Asp) c.2133C>A c.2156C>A (p.Ala719Asp) c.1907C>A (p.Ala636Asp) c.1815C>A (n.1815C>A) n.2341C>A c.2165C>A (p.Ala722Asp) | |
| 4 | g.6301951C= | CA1435772106 | WFS1 | c.2192C= (p.Ala731=) c.2133C= c.2156C= (p.Ala719=) c.1907C= (p.Ala636=) c.1815C= (n.1815C=) n.2341C= c.2165C= (p.Ala722=) | |
| 4 | g.6301951C>G | CA356177930 | WFS1 | c.2192C>G (p.Ala731Gly) c.2133C>G c.2156C>G (p.Ala719Gly) c.1907C>G (p.Ala636Gly) c.1815C>G (n.1815C>G) n.2341C>G c.2165C>G (p.Ala722Gly) | |
| 4 | g.6301951C>T | CA2839625 | WFS1 | c.2192C>T (p.Ala731Val) c.2133C>T c.2156C>T (p.Ala719Val) c.1907C>T (p.Ala636Val) c.1815C>T (n.1815C>T) n.2341C>T c.2165C>T (p.Ala722Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301952C>A | CA438368661 | WFS1 | c.2193C>A (p.Ala731=) c.2134C>A c.2157C>A (p.Ala719=) c.1908C>A (p.Ala636=) c.1816C>A (n.1816C>A) n.2342C>A c.2166C>A (p.Ala722=) | |
| 4 | g.6301952C= | CA1435772107 | WFS1 | c.2193C= (p.Ala731=) c.2134C= c.2157C= (p.Ala719=) c.1908C= (p.Ala636=) c.1816C= (n.1816C=) n.2342C= c.2166C= (p.Ala722=) | |
| 4 | g.6301952C>G | CA2839626 | WFS1 | c.2193C>G (p.Ala731=) c.2134C>G c.2157C>G (p.Ala719=) c.1908C>G (p.Ala636=) c.1816C>G (n.1816C>G) n.2342C>G c.2166C>G (p.Ala722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301952C>T | CA10621440 | WFS1 | c.2193C>T (p.Ala731=) c.2134C>T c.2157C>T (p.Ala719=) c.1908C>T (p.Ala636=) c.1816C>T (n.1816C>T) n.2342C>T c.2166C>T (p.Ala722=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301953A= | CA1435772110 | WFS1 | c.2194A= (p.Ile732=) c.2135A= c.2158A= (p.Ile720=) c.1909A= (p.Ile637=) c.1817A= (n.1817A=) n.2343A= c.2167A= (p.Ile723=) | |
| 4 | g.6301953A>C | CA2839627 | WFS1 | c.2194A>C (p.Ile732Leu) c.2135A>C c.2158A>C (p.Ile720Leu) c.1909A>C (p.Ile637Leu) c.1817A>C (n.1817A>C) n.2343A>C c.2167A>C (p.Ile723Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301953A>G | CA295580 | WFS1 | c.2194A>G (p.Ile732Val) c.2135A>G c.2158A>G (p.Ile720Val) c.1909A>G (p.Ile637Val) c.1817A>G (n.1817A>G) n.2343A>G c.2167A>G (p.Ile723Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301953A>T | CA356177931 | WFS1 | c.2194A>T (p.Ile732Phe) c.2135A>T c.2158A>T (p.Ile720Phe) c.1909A>T (p.Ile637Phe) c.1817A>T (n.1817A>T) n.2343A>T c.2167A>T (p.Ile723Phe) | |
| 4 | g.6301954T>A | CA356177933 | WFS1 | c.2195T>A (p.Ile732Asn) c.2136T>A c.2159T>A (p.Ile720Asn) c.1910T>A (p.Ile637Asn) c.1818T>A (n.1818T>A) n.2344T>A c.2168T>A (p.Ile723Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301954T>C | CA356177934 | WFS1 | c.2195T>C (p.Ile732Thr) c.2136T>C c.2159T>C (p.Ile720Thr) c.1910T>C (p.Ile637Thr) c.1818T>C (n.1818T>C) n.2344T>C c.2168T>C (p.Ile723Thr) | dbSNP gnomAD v4 |
| 4 | g.6301954T>G | CA356177935 | WFS1 | c.2195T>G (p.Ile732Ser) c.2136T>G c.2159T>G (p.Ile720Ser) c.1910T>G (p.Ile637Ser) c.1818T>G (n.1818T>G) n.2344T>G c.2168T>G (p.Ile723Ser) | |
| 4 | g.6301954T= | CA1435772113 | WFS1 | c.2195T= (p.Ile732=) c.2136T= c.2159T= (p.Ile720=) c.1910T= (p.Ile637=) c.1818T= (n.1818T=) n.2344T= c.2168T= (p.Ile723=) | |
| 4 | g.6301955C>A | CA438368665 | WFS1 | c.2196C>A (p.Ile732=) c.2137C>A c.2160C>A (p.Ile720=) c.1911C>A (p.Ile637=) c.1819C>A (n.1819C>A) n.2345C>A c.2169C>A (p.Ile723=) | |
| 4 | g.6301955C= | CA1435772114 | WFS1 | c.2196C= (p.Ile732=) c.2137C= c.2160C= (p.Ile720=) c.1911C= (p.Ile637=) c.1819C= (n.1819C=) n.2345C= c.2169C= (p.Ile723=) | |
| 4 | g.6301955C>G | CA356177937 | WFS1 | c.2196C>G (p.Ile732Met) c.2137C>G c.2160C>G (p.Ile720Met) c.1911C>G (p.Ile637Met) c.1819C>G (n.1819C>G) n.2345C>G c.2169C>G (p.Ile723Met) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301955C>T | CA2839628 | WFS1 | c.2196C>T (p.Ile732=) c.2137C>T c.2160C>T (p.Ile720=) c.1911C>T (p.Ile637=) c.1819C>T (n.1819C>T) n.2345C>T c.2169C>T (p.Ile723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301956A>C | CA356177939 | WFS1 | c.2197A>C (p.Asn733His) c.2138A>C c.2161A>C (p.Asn721His) c.1912A>C (p.Asn638His) c.1820A>C (n.1820A>C) n.2346A>C c.2170A>C (p.Asn724His) | |
| 4 | g.6301956A>G | CA356177941 | WFS1 | c.2197A>G (p.Asn733Asp) c.2138A>G c.2161A>G (p.Asn721Asp) c.1912A>G (p.Asn638Asp) c.1820A>G (n.1820A>G) n.2346A>G c.2170A>G (p.Asn724Asp) | |
| 4 | g.6301956A>T | CA356177942 | WFS1 | c.2197A>T (p.Asn733Tyr) c.2138A>T c.2161A>T (p.Asn721Tyr) c.1912A>T (p.Asn638Tyr) c.1820A>T (n.1820A>T) n.2346A>T c.2170A>T (p.Asn724Tyr) | |
| 4 | g.6301957A= | CA1435772116 | WFS1 | c.2198A= (p.Asn733=) c.2139A= c.2162A= (p.Asn721=) c.1913A= (p.Asn638=) c.1821A= (n.1821A=) n.2347A= c.2171A= (p.Asn724=) | |
| 4 | g.6301957A>C | CA356177943 | WFS1 | c.2198A>C (p.Asn733Thr) c.2139A>C c.2162A>C (p.Asn721Thr) c.1913A>C (p.Asn638Thr) c.1821A>C (n.1821A>C) n.2347A>C c.2171A>C (p.Asn724Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301957A>G | CA2839630 | WFS1 | c.2198A>G (p.Asn733Ser) c.2139A>G c.2162A>G (p.Asn721Ser) c.1913A>G (p.Asn638Ser) c.1821A>G (n.1821A>G) n.2347A>G c.2171A>G (p.Asn724Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301957A>T | CA2839629 | WFS1 | c.2198A>T (p.Asn733Ile) c.2139A>T c.2162A>T (p.Asn721Ile) c.1913A>T (p.Asn638Ile) c.1821A>T (n.1821A>T) n.2347A>T c.2171A>T (p.Asn724Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301958C>A | CA356177948 | WFS1 | c.2199C>A (p.Asn733Lys) c.2140C>A c.2163C>A (p.Asn721Lys) c.1914C>A (p.Asn638Lys) c.1822C>A (n.1822C>A) n.2348C>A c.2172C>A (p.Asn724Lys) | |
| 4 | g.6301958C>G | CA356177947 | WFS1 | c.2199C>G (p.Asn733Lys) c.2140C>G c.2163C>G (p.Asn721Lys) c.1914C>G (p.Asn638Lys) c.1822C>G (n.1822C>G) n.2348C>G c.2172C>G (p.Asn724Lys) | ClinVar dbSNP |
| 4 | g.6301958C>T | CA438368668 | WFS1 | c.2199C>T (p.Asn733=) c.2140C>T c.2163C>T (p.Asn721=) c.1914C>T (p.Asn638=) c.1822C>T (n.1822C>T) n.2348C>T c.2172C>T (p.Asn724=) | gnomAD v4 |
| 4 | g.6301959A= | CA1435772119 | WFS1 | c.2200A= (p.Met734=) c.2141A= c.2164A= (p.Met722=) c.1915A= (p.Met639=) c.1823A= (n.1823A=) n.2349A= c.2173A= (p.Met725=) | |
| 4 | g.6301959A>C | CA2839631 | WFS1 | c.2200A>C (p.Met734Leu) c.2141A>C c.2164A>C (p.Met722Leu) c.1915A>C (p.Met639Leu) c.1823A>C (n.1823A>C) n.2349A>C c.2173A>C (p.Met725Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301959A>G | CA321222 | WFS1 | c.2200A>G (p.Met734Val) c.2141A>G c.2164A>G (p.Met722Val) c.1915A>G (p.Met639Val) c.1823A>G (n.1823A>G) n.2349A>G c.2173A>G (p.Met725Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301959A>T | CA356177951 | WFS1 | c.2200A>T (p.Met734Leu) c.2141A>T c.2164A>T (p.Met722Leu) c.1915A>T (p.Met639Leu) c.1823A>T (n.1823A>T) n.2349A>T c.2173A>T (p.Met725Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301960T>A | CA356177953 | WFS1 | c.2201T>A (p.Met734Lys) c.2142T>A c.2165T>A (p.Met722Lys) c.1916T>A (p.Met639Lys) c.1824T>A (n.1824T>A) n.2350T>A c.2174T>A (p.Met725Lys) | |
| 4 | g.6301960T>C | CA356177956 | WFS1 | c.2201T>C (p.Met734Thr) c.2142T>C c.2165T>C (p.Met722Thr) c.1916T>C (p.Met639Thr) c.1824T>C (n.1824T>C) n.2350T>C c.2174T>C (p.Met725Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301960T>G | CA356177957 | WFS1 | c.2201T>G (p.Met734Arg) c.2142T>G c.2165T>G (p.Met722Arg) c.1916T>G (p.Met639Arg) c.1824T>G (n.1824T>G) n.2350T>G c.2174T>G (p.Met725Arg) | |
| 4 | g.6301960T= | CA1435772121 | WFS1 | c.2201T= (p.Met734=) c.2142T= c.2165T= (p.Met722=) c.1916T= (p.Met639=) c.1824T= (n.1824T=) n.2350T= c.2174T= (p.Met725=) | |
| 4 | g.6301961G>A | CA2839632 | WFS1 | c.2202G>A (p.Met734Ile) c.2143G>A c.2166G>A (p.Met722Ile) c.1917G>A (p.Met639Ile) c.1825G>A (n.1825G>A) n.2351G>A c.2175G>A (p.Met725Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301961G>C | CA356177959 | WFS1 | c.2202G>C (p.Met734Ile) c.2143G>C c.2166G>C (p.Met722Ile) c.1917G>C (p.Met639Ile) c.1825G>C (n.1825G>C) n.2351G>C c.2175G>C (p.Met725Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301961G= | CA1435772123 | WFS1 | c.2202G= (p.Met734=) c.2143G= c.2166G= (p.Met722=) c.1917G= (p.Met639=) c.1825G= (n.1825G=) n.2351G= c.2175G= (p.Met725=) | |
| 4 | g.6301961G>T | CA356177960 | WFS1 | c.2202G>T (p.Met734Ile) c.2143G>T c.2166G>T (p.Met722Ile) c.1917G>T (p.Met639Ile) c.1825G>T (n.1825G>T) n.2351G>T c.2175G>T (p.Met725Ile) | |
| 4 | g.6301961_6301963delinsGCT | CA1435772124 | WFS1 | c.2202_2204delinsGCT (p.Met734=) c.2143_2145delinsGCT c.2166_2168delinsGCT (p.Met722=) c.1917_1919delinsGCT (p.Met639=) c.1825_1827delinsGCT (n.1825_1827delinsGCT) n.2351_2353delinsGCT c.2175_2177delinsGCT (p.Met725=) | |
| 4 | g.6301962C>A | CA356177962 | WFS1 | c.2203C>A (p.Leu735Ile) c.2144C>A c.2167C>A (p.Leu723Ile) c.1918C>A (p.Leu640Ile) c.1826C>A (n.1826C>A) n.2352C>A c.2176C>A (p.Leu726Ile) | gnomAD v4 |
| 4 | g.6301962C= | CA1435772125 | WFS1 | c.2203C= (p.Leu735=) c.2144C= c.2167C= (p.Leu723=) c.1918C= (p.Leu640=) c.1826C= (n.1826C=) n.2352C= c.2176C= (p.Leu726=) | |
| 4 | g.6301962C>G | CA356177963 | WFS1 | c.2203C>G (p.Leu735Val) c.2144C>G c.2167C>G (p.Leu723Val) c.1918C>G (p.Leu640Val) c.1826C>G (n.1826C>G) n.2352C>G c.2176C>G (p.Leu726Val) | |
| 4 | g.6301962C>T | CA356177965 | WFS1 | c.2203C>T (p.Leu735Phe) c.2144C>T c.2167C>T (p.Leu723Phe) c.1918C>T (p.Leu640Phe) c.1826C>T (n.1826C>T) n.2352C>T c.2176C>T (p.Leu726Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301963_6301964del | CA549707921 | WFS1 | c.2204_2205del (p.Leu735ProfsTer?) c.2145_2146del c.2168_2169del (p.Leu723ProfsTer?) c.1919_1920del (p.Leu640ProfsTer?) c.1827_1828del (n.1827_1828del) n.2353_2354del c.2177_2178del (p.Leu726ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301963T>A | CA356177967 | WFS1 | c.2204T>A (p.Leu735His) c.2145T>A c.2168T>A (p.Leu723His) c.1919T>A (p.Leu640His) c.1827T>A (n.1827T>A) n.2353T>A c.2177T>A (p.Leu726His) | |
| 4 | g.6301963T>C | CA356177968 | WFS1 | c.2204T>C (p.Leu735Pro) c.2145T>C c.2168T>C (p.Leu723Pro) c.1919T>C (p.Leu640Pro) c.1827T>C (n.1827T>C) n.2353T>C c.2177T>C (p.Leu726Pro) | ClinVar |
| 4 | g.6301963T>G | CA356177970 | WFS1 | c.2204T>G (p.Leu735Arg) c.2145T>G c.2168T>G (p.Leu723Arg) c.1919T>G (p.Leu640Arg) c.1827T>G (n.1827T>G) n.2353T>G c.2177T>G (p.Leu726Arg) | |
| 4 | g.6301964C>A | CA438368676 | WFS1 | c.2205C>A (p.Leu735=) c.2146C>A c.2169C>A (p.Leu723=) c.1920C>A (p.Leu640=) c.1828C>A (n.1828C>A) n.2354C>A c.2178C>A (p.Leu726=) | |
| 4 | g.6301964C= | CA1435772127 | WFS1 | c.2205C= (p.Leu735=) c.2146C= c.2169C= (p.Leu723=) c.1920C= (p.Leu640=) c.1828C= (n.1828C=) n.2354C= c.2178C= (p.Leu726=) | |
| 4 | g.6301964C>G | CA438368677 | WFS1 | c.2205C>G (p.Leu735=) c.2146C>G c.2169C>G (p.Leu723=) c.1920C>G (p.Leu640=) c.1828C>G (n.1828C>G) n.2354C>G c.2178C>G (p.Leu726=) | gnomAD v4 |
| 4 | g.6301964C>T | CA438368678 | WFS1 | c.2205C>T (p.Leu735=) c.2146C>T c.2169C>T (p.Leu723=) c.1920C>T (p.Leu640=) c.1828C>T (n.1828C>T) n.2354C>T c.2178C>T (p.Leu726=) | gnomAD v4 |
| 4 | g.6301964_6301965insGAG | CA549707922 | WFS1 | c.2205_2206insGAG (p.Leu735_Pro736insGlu) c.2146_2147insGAG c.2169_2170insGAG (p.Leu723_Pro724insGlu) c.1920_1921insGAG (p.Leu640_Pro641insGlu) c.1828_1829insGAG (n.1828_1829insGAG) n.2354_2355insGAG c.2178_2179insGAG (p.Leu726_Pro727insGlu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301965C>A | CA356177973 | WFS1 | c.2206C>A (p.Pro736Thr) c.2147C>A c.2170C>A (p.Pro724Thr) c.1921C>A (p.Pro641Thr) c.1829C>A (n.1829C>A) n.2355C>A c.2179C>A (p.Pro727Thr) | |
| 4 | g.6301965C= | CA1435772128 | WFS1 | c.2206C= (p.Pro736=) c.2147C= c.2170C= (p.Pro724=) c.1921C= (p.Pro641=) c.1829C= (n.1829C=) n.2355C= c.2179C= (p.Pro727=) | |
| 4 | g.6301965C>G | CA356177974 | WFS1 | c.2206C>G (p.Pro736Ala) c.2147C>G c.2170C>G (p.Pro724Ala) c.1921C>G (p.Pro641Ala) c.1829C>G (n.1829C>G) n.2355C>G c.2179C>G (p.Pro727Ala) | |
| 4 | g.6301965C>T | CA2839633 | WFS1 | c.2206C>T (p.Pro736Ser) c.2147C>T c.2170C>T (p.Pro724Ser) c.1921C>T (p.Pro641Ser) c.1829C>T (n.1829C>T) n.2355C>T c.2179C>T (p.Pro727Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301966C>A | CA356177976 | WFS1 | c.2207C>A (p.Pro736Gln) c.2148C>A c.2171C>A (p.Pro724Gln) c.1922C>A (p.Pro641Gln) c.1830C>A (n.1830C>A) n.2356C>A c.2180C>A (p.Pro727Gln) | |
| 4 | g.6301966C= | CA1435772130 | WFS1 | c.2207C= (p.Pro736=) c.2148C= c.2171C= (p.Pro724=) c.1922C= (p.Pro641=) c.1830C= (n.1830C=) n.2356C= c.2180C= (p.Pro727=) | |
| 4 | g.6301966C>G | CA356177977 | WFS1 | c.2207C>G (p.Pro736Arg) c.2148C>G c.2171C>G (p.Pro724Arg) c.1922C>G (p.Pro641Arg) c.1830C>G (n.1830C>G) n.2356C>G c.2180C>G (p.Pro727Arg) | gnomAD v4 |
| 4 | g.6301966C>T | CA253184 | WFS1 | c.2207C>T (p.Pro736Leu) c.2148C>T c.2171C>T (p.Pro724Leu) c.1922C>T (p.Pro641Leu) c.1830C>T (n.1830C>T) n.2356C>T c.2180C>T (p.Pro727Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301967G>A | CA91796896 | WFS1 | c.2208G>A (p.Pro736=) c.2149G>A c.2172G>A (p.Pro724=) c.1923G>A (p.Pro641=) c.1831G>A (n.1831G>A) n.2357G>A c.2181G>A (p.Pro727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301967G>C | CA438368682 | WFS1 | c.2208G>C (p.Pro736=) c.2149G>C c.2172G>C (p.Pro724=) c.1923G>C (p.Pro641=) c.1831G>C (n.1831G>C) n.2357G>C c.2181G>C (p.Pro727=) | |
| 4 | g.6301967G= | CA1435772132 | WFS1 | c.2208G= (p.Pro736=) c.2149G= c.2172G= (p.Pro724=) c.1923G= (p.Pro641=) c.1831G= (n.1831G=) n.2357G= c.2181G= (p.Pro727=) | |
| 4 | g.6301967G>T | CA2839634 | WFS1 | c.2208G>T (p.Pro736=) c.2149G>T c.2172G>T (p.Pro724=) c.1923G>T (p.Pro641=) c.1831G>T (n.1831G>T) n.2357G>T c.2181G>T (p.Pro727=) | dbSNP ExAC gnomAD v2 |
| 4 | g.6301967_6301970delinsGTTC | CA1435772133 | WFS1 | c.2208_2211delinsGTTC (p.Pro736=) c.2149_2152delinsGTTC c.2172_2175delinsGTTC (p.Pro724=) c.1923_1926delinsGTTC (p.Pro641=) c.1831_1834delinsGTTC (n.1831_1834delinsGTTC) n.2357_2360delinsGTTC c.2181_2184delinsGTTC (p.Pro727=) | |
| 4 | g.6301968T>A | CA356177980 | WFS1 | c.2209T>A (p.Phe737Ile) c.2150T>A c.2173T>A (p.Phe725Ile) c.1924T>A (p.Phe642Ile) c.1832T>A (n.1832T>A) n.2358T>A c.2182T>A (p.Phe728Ile) | |
| 4 | g.6301968T>C | CA356177982 | WFS1 | c.2209T>C (p.Phe737Leu) c.2150T>C c.2173T>C (p.Phe725Leu) c.1924T>C (p.Phe642Leu) c.1832T>C (n.1832T>C) n.2358T>C c.2182T>C (p.Phe728Leu) | |
| 4 | g.6301968T>G | CA356177981 | WFS1 | c.2209T>G (p.Phe737Val) c.2150T>G c.2173T>G (p.Phe725Val) c.1924T>G (p.Phe642Val) c.1832T>G (n.1832T>G) n.2358T>G c.2182T>G (p.Phe728Val) | |
| 4 | g.6301971_6301973del | CA797209926 | WFS1 | c.2212_2214del (p.Phe738del) c.2153_2155del c.2176_2178del (p.Phe726del) c.1927_1929del (p.Phe643del) c.1835_1837del (n.1835_1837del) n.2361_2363del c.2185_2187del (p.Phe729del) | dbSNP gnomAD v4 |
| 4 | g.6301969T>A | CA356177983 | WFS1 | c.2210T>A (p.Phe737Tyr) c.2151T>A c.2174T>A (p.Phe725Tyr) c.1925T>A (p.Phe642Tyr) c.1833T>A (n.1833T>A) n.2359T>A c.2183T>A (p.Phe728Tyr) | |
| 4 | g.6301969T>C | CA356177984 | WFS1 | c.2210T>C (p.Phe737Ser) c.2151T>C c.2174T>C (p.Phe725Ser) c.1925T>C (p.Phe642Ser) c.1833T>C (n.1833T>C) n.2359T>C c.2183T>C (p.Phe728Ser) | |
| 4 | g.6301969T>G | CA356177985 | WFS1 | c.2210T>G (p.Phe737Cys) c.2151T>G c.2174T>G (p.Phe725Cys) c.1925T>G (p.Phe642Cys) c.1833T>G (n.1833T>G) n.2359T>G c.2183T>G (p.Phe728Cys) | |
| 4 | g.6301969_6301973dup | CA2586973647 | WFS1 | c.2210_2214dup (p.Ile739SerfsTer?) c.2151_2155dup c.2174_2178dup (p.Ile727SerfsTer?) c.1925_1929dup (p.Ile644SerfsTer?) c.1833_1837dup (n.1833_1837dup) n.2359_2363dup c.2183_2187dup (p.Ile730SerfsTer?) | |
| 4 | g.6301970C>A | CA356177986 | WFS1 | c.2211C>A (p.Phe737Leu) c.2152C>A c.2175C>A (p.Phe725Leu) c.1926C>A (p.Phe642Leu) c.1834C>A (n.1834C>A) n.2360C>A c.2184C>A (p.Phe728Leu) | |
| 4 | g.6301970C= | CA1435772135 | WFS1 | c.2211C= (p.Phe737=) c.2152C= c.2175C= (p.Phe725=) c.1926C= (p.Phe642=) c.1834C= (n.1834C=) n.2360C= c.2184C= (p.Phe728=) | |
| 4 | g.6301970C>G | CA2839635 | WFS1 | c.2211C>G (p.Phe737Leu) c.2152C>G c.2175C>G (p.Phe725Leu) c.1926C>G (p.Phe642Leu) c.1834C>G (n.1834C>G) n.2360C>G c.2184C>G (p.Phe728Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301970C>T | CA91796902 | WFS1 | c.2211C>T (p.Phe737=) c.2152C>T c.2175C>T (p.Phe725=) c.1926C>T (p.Phe642=) c.1834C>T (n.1834C>T) n.2360C>T c.2184C>T (p.Phe728=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301971T>A | CA356177988 | WFS1 | c.2212T>A (p.Phe738Ile) c.2153T>A c.2176T>A (p.Phe726Ile) c.1927T>A (p.Phe643Ile) c.1835T>A (n.1835T>A) n.2361T>A c.2185T>A (p.Phe729Ile) | |
| 4 | g.6301971T>C | CA356177990 | WFS1 | c.2212T>C (p.Phe738Leu) c.2153T>C c.2176T>C (p.Phe726Leu) c.1927T>C (p.Phe643Leu) c.1835T>C (n.1835T>C) n.2361T>C c.2185T>C (p.Phe729Leu) | |
| 4 | g.6301971T>G | CA356177992 | WFS1 | c.2212T>G (p.Phe738Val) c.2153T>G c.2176T>G (p.Phe726Val) c.1927T>G (p.Phe643Val) c.1835T>G (n.1835T>G) n.2361T>G c.2185T>G (p.Phe729Val) | |
| 4 | g.6301972T>A | CA356177994 | WFS1 | c.2213T>A (p.Phe738Tyr) c.2154T>A c.2177T>A (p.Phe726Tyr) c.1928T>A (p.Phe643Tyr) c.1836T>A (n.1836T>A) n.2362T>A c.2186T>A (p.Phe729Tyr) | |
| 4 | g.6301972T>C | CA356177996 | WFS1 | c.2213T>C (p.Phe738Ser) c.2154T>C c.2177T>C (p.Phe726Ser) c.1928T>C (p.Phe643Ser) c.1836T>C (n.1836T>C) n.2362T>C c.2186T>C (p.Phe729Ser) | |
| 4 | g.6301972T>G | CA356177998 | WFS1 | c.2213T>G (p.Phe738Cys) c.2154T>G c.2177T>G (p.Phe726Cys) c.1928T>G (p.Phe643Cys) c.1836T>G (n.1836T>G) n.2362T>G c.2186T>G (p.Phe729Cys) | |
| 4 | g.6301974_6301976del | CA2669843474 | WFS1 | c.2215_2217del (p.Ile739del) c.2156_2158del c.2179_2181del (p.Ile727del) c.1930_1932del (p.Ile644del) c.1838_1840del (n.1838_1840del) n.2364_2366del c.2188_2190del (p.Ile730del) | gnomAD v4 |
| 4 | g.6301973C>A | CA356178000 | WFS1 | c.2214C>A (p.Phe738Leu) c.2155C>A c.2178C>A (p.Phe726Leu) c.1929C>A (p.Phe643Leu) c.1837C>A (n.1837C>A) n.2363C>A c.2187C>A (p.Phe729Leu) | |
| 4 | g.6301973C= | CA1435772138 | WFS1 | c.2214C= (p.Phe738=) c.2155C= c.2178C= (p.Phe726=) c.1929C= (p.Phe643=) c.1837C= (n.1837C=) n.2363C= c.2187C= (p.Phe729=) | |
| 4 | g.6301973C>G | CA356178002 | WFS1 | c.2214C>G (p.Phe738Leu) c.2155C>G c.2178C>G (p.Phe726Leu) c.1929C>G (p.Phe643Leu) c.1837C>G (n.1837C>G) n.2363C>G c.2187C>G (p.Phe729Leu) | |
| 4 | g.6301973C>T | CA91796904 | WFS1 | c.2214C>T (p.Phe738=) c.2155C>T c.2178C>T (p.Phe726=) c.1929C>T (p.Phe643=) c.1837C>T (n.1837C>T) n.2363C>T c.2187C>T (p.Phe729=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301974A= | CA1435772139 | WFS1 | c.2215A= (p.Ile739=) c.2156A= c.2179A= (p.Ile727=) c.1930A= (p.Ile644=) c.1838A= (n.1838A=) n.2364A= c.2188A= (p.Ile730=) | |
| 4 | g.6301974A>C | CA356178007 | WFS1 | c.2215A>C (p.Ile739Leu) c.2156A>C c.2179A>C (p.Ile727Leu) c.1930A>C (p.Ile644Leu) c.1838A>C (n.1838A>C) n.2364A>C c.2188A>C (p.Ile730Leu) | |
| 4 | g.6301974A>G | CA356178003 | WFS1 | c.2215A>G (p.Ile739Val) c.2156A>G c.2179A>G (p.Ile727Val) c.1930A>G (p.Ile644Val) c.1838A>G (n.1838A>G) n.2364A>G c.2188A>G (p.Ile730Val) | ClinVar gnomAD v4 |
| 4 | g.6301974A>T | CA356178005 | WFS1 | c.2215A>T (p.Ile739Phe) c.2156A>T c.2179A>T (p.Ile727Phe) c.1930A>T (p.Ile644Phe) c.1838A>T (n.1838A>T) n.2364A>T c.2188A>T (p.Ile730Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301975T>A | CA356178009 | WFS1 | c.2216T>A (p.Ile739Asn) c.2157T>A c.2180T>A (p.Ile727Asn) c.1931T>A (p.Ile644Asn) c.1839T>A (n.1839T>A) n.2365T>A c.2189T>A (p.Ile730Asn) | |
| 4 | g.6301975T>C | CA356178011 | WFS1 | c.2216T>C (p.Ile739Thr) c.2157T>C c.2180T>C (p.Ile727Thr) c.1931T>C (p.Ile644Thr) c.1839T>C (n.1839T>C) n.2365T>C c.2189T>C (p.Ile730Thr) | |
| 4 | g.6301975T>G | CA356178013 | WFS1 | c.2216T>G (p.Ile739Ser) c.2157T>G c.2180T>G (p.Ile727Ser) c.1931T>G (p.Ile644Ser) c.1839T>G (n.1839T>G) n.2365T>G c.2189T>G (p.Ile730Ser) | gnomAD v4 |
| 4 | g.6301976C>A | CA438368691 | WFS1 | c.2217C>A (p.Ile739=) c.2158C>A c.2181C>A (p.Ile727=) c.1932C>A (p.Ile644=) c.1840C>A (n.1840C>A) n.2366C>A c.2190C>A (p.Ile730=) | |
| 4 | g.6301976C= | CA1435772141 | WFS1 | c.2217C= (p.Ile739=) c.2158C= c.2181C= (p.Ile727=) c.1932C= (p.Ile644=) c.1840C= (n.1840C=) n.2366C= c.2190C= (p.Ile730=) | |
| 4 | g.6301976C>G | CA356178015 | WFS1 | c.2217C>G (p.Ile739Met) c.2158C>G c.2181C>G (p.Ile727Met) c.1932C>G (p.Ile644Met) c.1840C>G (n.1840C>G) n.2366C>G c.2190C>G (p.Ile730Met) | |
| 4 | g.6301976C>T | CA247677 | WFS1 | c.2217C>T (p.Ile739=) c.2158C>T c.2181C>T (p.Ile727=) c.1932C>T (p.Ile644=) c.1840C>T (n.1840C>T) n.2366C>T c.2190C>T (p.Ile730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301977G>A | CA179669 | WFS1 | c.2218G>A (p.Gly740Ser) c.2159G>A c.2182G>A (p.Gly728Ser) c.1933G>A (p.Gly645Ser) c.1841G>A (n.1841G>A) n.2367G>A c.2191G>A (p.Gly731Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301977G>C | CA356178019 | WFS1 | c.2218G>C (p.Gly740Arg) c.2159G>C c.2182G>C (p.Gly728Arg) c.1933G>C (p.Gly645Arg) c.1841G>C (n.1841G>C) n.2367G>C c.2191G>C (p.Gly731Arg) | |
| 4 | g.6301977G= | CA1435772144 | WFS1 | c.2218G= (p.Gly740=) c.2159G= c.2182G= (p.Gly728=) c.1933G= (p.Gly645=) c.1841G= (n.1841G=) n.2367G= c.2191G= (p.Gly731=) | |
| 4 | g.6301977G>T | CA356178021 | WFS1 | c.2218G>T (p.Gly740Cys) c.2159G>T c.2182G>T (p.Gly728Cys) c.1933G>T (p.Gly645Cys) c.1841G>T (n.1841G>T) n.2367G>T c.2191G>T (p.Gly731Cys) | gnomAD v4 |
| 4 | g.6301978G>A | CA356178023 | WFS1 | c.2219G>A (p.Gly740Asp) c.2160G>A c.2183G>A (p.Gly728Asp) c.1934G>A (p.Gly645Asp) c.1842G>A (n.1842G>A) n.2368G>A c.2192G>A (p.Gly731Asp) | ClinVar dbSNP |
| 4 | g.6301978G>C | CA356178025 | WFS1 | c.2219G>C (p.Gly740Ala) c.2160G>C c.2183G>C (p.Gly728Ala) c.1934G>C (p.Gly645Ala) c.1842G>C (n.1842G>C) n.2368G>C c.2192G>C (p.Gly731Ala) | |
| 4 | g.6301978G= | CA1435772146 | WFS1 | c.2219G= (p.Gly740=) c.2160G= c.2183G= (p.Gly728=) c.1934G= (p.Gly645=) c.1842G= (n.1842G=) n.2368G= c.2192G= (p.Gly731=) | |
| 4 | g.6301978G>T | CA356178026 | WFS1 | c.2219G>T (p.Gly740Val) c.2160G>T c.2183G>T (p.Gly728Val) c.1934G>T (p.Gly645Val) c.1842G>T (n.1842G>T) n.2368G>T c.2192G>T (p.Gly731Val) | gnomAD v4 |
| 4 | g.6301979C>A | CA438368696 | WFS1 | c.2220C>A (p.Gly740=) c.2161C>A c.2184C>A (p.Gly728=) c.1935C>A (p.Gly645=) c.1843C>A (n.1843C>A) n.2369C>A c.2193C>A (p.Gly731=) | |
| 4 | g.6301979C= | CA1435772147 | WFS1 | c.2220C= (p.Gly740=) c.2161C= c.2184C= (p.Gly728=) c.1935C= (p.Gly645=) c.1843C= (n.1843C=) n.2369C= c.2193C= (p.Gly731=) | |
| 4 | g.6301979C>G | CA438368697 | WFS1 | c.2220C>G (p.Gly740=) c.2161C>G c.2184C>G (p.Gly728=) c.1935C>G (p.Gly645=) c.1843C>G (n.1843C>G) n.2369C>G c.2193C>G (p.Gly731=) | gnomAD v4 |
| 4 | g.6301979C>T | CA136346 | WFS1 | c.2220C>T (p.Gly740=) c.2161C>T c.2184C>T (p.Gly728=) c.1935C>T (p.Gly645=) c.1843C>T (n.1843C>T) n.2369C>T c.2193C>T (p.Gly731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301980G>A | CA205181 | WFS1 | c.2221G>A (p.Asp741Asn) c.2162G>A c.2185G>A (p.Asp729Asn) c.1936G>A (p.Asp646Asn) c.1844G>A (n.1844G>A) n.2370G>A c.2194G>A (p.Asp732Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301980G>C | CA356178031 | WFS1 | c.2221G>C (p.Asp741His) c.2162G>C c.2185G>C (p.Asp729His) c.1936G>C (p.Asp646His) c.1844G>C (n.1844G>C) n.2370G>C c.2194G>C (p.Asp732His) | |
| 4 | g.6301980G= | CA1435772149 | WFS1 | c.2221G= (p.Asp741=) c.2162G= c.2185G= (p.Asp729=) c.1936G= (p.Asp646=) c.1844G= (n.1844G=) n.2370G= c.2194G= (p.Asp732=) | |
| 4 | g.6301980G>T | CA356178029 | WFS1 | c.2221G>T (p.Asp741Tyr) c.2162G>T c.2185G>T (p.Asp729Tyr) c.1936G>T (p.Asp646Tyr) c.1844G>T (n.1844G>T) n.2370G>T c.2194G>T (p.Asp732Tyr) | dbSNP gnomAD v4 |
| 4 | g.6301981A= | CA1435772151 | WFS1 | c.2222A= (p.Asp741=) c.2163A= c.2186A= (p.Asp729=) c.1937A= (p.Asp646=) c.1845A= (n.1845A=) n.2371A= c.2195A= (p.Asp732=) | |
| 4 | g.6301981A>C | CA356178033 | WFS1 | c.2222A>C (p.Asp741Ala) c.2163A>C c.2186A>C (p.Asp729Ala) c.1937A>C (p.Asp646Ala) c.1845A>C (n.1845A>C) n.2371A>C c.2195A>C (p.Asp732Ala) | dbSNP |
| 4 | g.6301981A>G | CA356178035 | WFS1 | c.2222A>G (p.Asp741Gly) c.2163A>G c.2186A>G (p.Asp729Gly) c.1937A>G (p.Asp646Gly) c.1845A>G (n.1845A>G) n.2371A>G c.2195A>G (p.Asp732Gly) | |
| 4 | g.6301981A>T | CA356178036 | WFS1 | c.2222A>T (p.Asp741Val) c.2163A>T c.2186A>T (p.Asp729Val) c.1937A>T (p.Asp646Val) c.1845A>T (n.1845A>T) n.2371A>T c.2195A>T (p.Asp732Val) | |
| 4 | g.6301982C>A | CA356178038 | WFS1 | c.2223C>A (p.Asp741Glu) c.2164C>A c.2187C>A (p.Asp729Glu) c.1938C>A (p.Asp646Glu) c.1846C>A (n.1846C>A) n.2372C>A c.2196C>A (p.Asp732Glu) | |
| 4 | g.6301982C= | CA1435772152 | WFS1 | c.2223C= (p.Asp741=) c.2164C= c.2187C= (p.Asp729=) c.1938C= (p.Asp646=) c.1846C= (n.1846C=) n.2372C= c.2196C= (p.Asp732=) | |
| 4 | g.6301982C>G | CA356178040 | WFS1 | c.2223C>G (p.Asp741Glu) c.2164C>G c.2187C>G (p.Asp729Glu) c.1938C>G (p.Asp646Glu) c.1846C>G (n.1846C>G) n.2372C>G c.2196C>G (p.Asp732Glu) | |
| 4 | g.6301982C>T | CA2839636 | WFS1 | c.2223C>T (p.Asp741=) c.2164C>T c.2187C>T (p.Asp729=) c.1938C>T (p.Asp646=) c.1846C>T (n.1846C>T) n.2372C>T c.2196C>T (p.Asp732=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301983T>A | CA356178045 | WFS1 | c.2224T>A (p.Trp742Arg) c.2165T>A c.2188T>A (p.Trp730Arg) c.1939T>A (p.Trp647Arg) c.1847T>A (n.1847T>A) n.2373T>A c.2197T>A (p.Trp733Arg) | gnomAD v4 |
| 4 | g.6301983T>C | CA356178043 | WFS1 | c.2224T>C (p.Trp742Arg) c.2165T>C c.2188T>C (p.Trp730Arg) c.1939T>C (p.Trp647Arg) c.1847T>C (n.1847T>C) n.2373T>C c.2197T>C (p.Trp733Arg) | gnomAD v4 |
| 4 | g.6301983T>G | CA2839637 | WFS1 | c.2224T>G (p.Trp742Gly) c.2165T>G c.2188T>G (p.Trp730Gly) c.1939T>G (p.Trp647Gly) c.1847T>G (n.1847T>G) n.2373T>G c.2197T>G (p.Trp733Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301983T= | CA1435772154 | WFS1 | c.2224T= (p.Trp742=) c.2165T= c.2188T= (p.Trp730=) c.1939T= (p.Trp647=) c.1847T= (n.1847T=) n.2373T= c.2197T= (p.Trp733=) | |
| 4 | g.6301984G>A | CA2839638 | WFS1 | c.2225G>A (p.Trp742Ter) c.2166G>A c.2189G>A (p.Trp730Ter) c.1940G>A (p.Trp647Ter) c.1848G>A (n.1848G>A) n.2374G>A c.2198G>A (p.Trp733Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301984G>C | CA356178048 | WFS1 | c.2225G>C (p.Trp742Ser) c.2166G>C c.2189G>C (p.Trp730Ser) c.1940G>C (p.Trp647Ser) c.1848G>C (n.1848G>C) n.2374G>C c.2198G>C (p.Trp733Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301984G= | CA1435772155 | WFS1 | c.2225G= (p.Trp742=) c.2166G= c.2189G= (p.Trp730=) c.1940G= (p.Trp647=) c.1848G= (n.1848G=) n.2374G= c.2198G= (p.Trp733=) | |
| 4 | g.6301984G>T | CA356178050 | WFS1 | c.2225G>T (p.Trp742Leu) c.2166G>T c.2189G>T (p.Trp730Leu) c.1940G>T (p.Trp647Leu) c.1848G>T (n.1848G>T) n.2374G>T c.2198G>T (p.Trp733Leu) | dbSNP gnomAD v2 |
| 4 | g.6301985G>A | CA356178052 | WFS1 | c.2226G>A (p.Trp742Ter) c.2167G>A c.2190G>A (p.Trp730Ter) c.1941G>A (p.Trp647Ter) c.1849G>A (n.1849G>A) n.2375G>A c.2199G>A (p.Trp733Ter) | |
| 4 | g.6301985G>C | CA356178054 | WFS1 | c.2226G>C (p.Trp742Cys) c.2167G>C c.2190G>C (p.Trp730Cys) c.1941G>C (p.Trp647Cys) c.1849G>C (n.1849G>C) n.2375G>C c.2199G>C (p.Trp733Cys) | dbSNP |
| 4 | g.6301985G= | CA1435772157 | WFS1 | c.2226G= (p.Trp742=) c.2167G= c.2190G= (p.Trp730=) c.1941G= (p.Trp647=) c.1849G= (n.1849G=) n.2375G= c.2199G= (p.Trp733=) | |
| 4 | g.6301985G>T | CA2839639 | WFS1 | c.2226G>T (p.Trp742Cys) c.2167G>T c.2190G>T (p.Trp730Cys) c.1941G>T (p.Trp647Cys) c.1849G>T (n.1849G>T) n.2375G>T c.2199G>T (p.Trp733Cys) | dbSNP ExAC gnomAD v2 |
| 4 | g.6301986A= | CA1435772160 | WFS1 | c.2227A= (p.Met743=) c.2168A= c.2191A= (p.Met731=) c.1942A= (p.Met648=) c.1850A= (n.1850A=) n.2376A= c.2200A= (p.Met734=) | |
| 4 | g.6301986A>C | CA2839641 | WFS1 | c.2227A>C (p.Met743Leu) c.2168A>C c.2191A>C (p.Met731Leu) c.1942A>C (p.Met648Leu) c.1850A>C (n.1850A>C) n.2376A>C c.2200A>C (p.Met734Leu) | dbSNP ExAC gnomAD v4 |
| 4 | g.6301986A>G | CA2839640 | WFS1 | c.2227A>G (p.Met743Val) c.2168A>G c.2191A>G (p.Met731Val) c.1942A>G (p.Met648Val) c.1850A>G (n.1850A>G) n.2376A>G c.2200A>G (p.Met734Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301986A>T | CA356178058 | WFS1 | c.2227A>T (p.Met743Leu) c.2168A>T c.2191A>T (p.Met731Leu) c.1942A>T (p.Met648Leu) c.1850A>T (n.1850A>T) n.2376A>T c.2200A>T (p.Met734Leu) | |
| 4 | g.6301987T>A | CA91796920 | WFS1 | c.2228T>A (p.Met743Lys) c.2169T>A c.2192T>A (p.Met731Lys) c.1943T>A (p.Met648Lys) c.1851T>A (n.1851T>A) n.2377T>A c.2201T>A (p.Met734Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301987T>C | CA91796922 | WFS1 | c.2228T>C (p.Met743Thr) c.2169T>C c.2192T>C (p.Met731Thr) c.1943T>C (p.Met648Thr) c.1851T>C (n.1851T>C) n.2377T>C c.2201T>C (p.Met734Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301987T>G | CA356178062 | WFS1 | c.2228T>G (p.Met743Arg) c.2169T>G c.2192T>G (p.Met731Arg) c.1943T>G (p.Met648Arg) c.1851T>G (n.1851T>G) n.2377T>G c.2201T>G (p.Met734Arg) | gnomAD v4 |
| 4 | g.6301987T= | CA1435772162 | WFS1 | c.2228T= (p.Met743=) c.2169T= c.2192T= (p.Met731=) c.1943T= (p.Met648=) c.1851T= (n.1851T=) n.2377T= c.2201T= (p.Met734=) | |
| 4 | g.6301988G>A | CA356178065 | WFS1 | c.2229G>A (p.Met743Ile) c.2170G>A c.2193G>A (p.Met731Ile) c.1944G>A (p.Met648Ile) c.1852G>A (n.1852G>A) n.2378G>A c.2202G>A (p.Met734Ile) | gnomAD v4 COSMIC |
| 4 | g.6301988G>C | CA356178066 | WFS1 | c.2229G>C (p.Met743Ile) c.2170G>C c.2193G>C (p.Met731Ile) c.1944G>C (p.Met648Ile) c.1852G>C (n.1852G>C) n.2378G>C c.2202G>C (p.Met734Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301988G= | CA1435772164 | WFS1 | c.2229G= (p.Met743=) c.2170G= c.2193G= (p.Met731=) c.1944G= (p.Met648=) c.1852G= (n.1852G=) n.2378G= c.2202G= (p.Met734=) | |
| 4 | g.6301988G>T | CA356178068 | WFS1 | c.2229G>T (p.Met743Ile) c.2170G>T c.2193G>T (p.Met731Ile) c.1944G>T (p.Met648Ile) c.1852G>T (n.1852G>T) n.2378G>T c.2202G>T (p.Met734Ile) | gnomAD v4 |
| 4 | g.6301989C>A | CA356178069 | WFS1 | c.2230C>A (p.Arg744Ser) c.2171C>A c.2194C>A (p.Arg732Ser) c.1945C>A (p.Arg649Ser) c.1853C>A (n.1853C>A) n.2379C>A c.2203C>A (p.Arg735Ser) | gnomAD v4 |
| 4 | g.6301989C= | CA1435772166 | WFS1 | c.2230C= (p.Arg744=) c.2171C= c.2194C= (p.Arg732=) c.1945C= (p.Arg649=) c.1853C= (n.1853C=) n.2379C= c.2203C= (p.Arg735=) | |
| 4 | g.6301989C>G | CA356178071 | WFS1 | c.2230C>G (p.Arg744Gly) c.2171C>G c.2194C>G (p.Arg732Gly) c.1945C>G (p.Arg649Gly) c.1853C>G (n.1853C>G) n.2379C>G c.2203C>G (p.Arg735Gly) | dbSNP |
| 4 | g.6301989C>T | CA325020 | WFS1 | c.2230C>T (p.Arg744Cys) c.2171C>T c.2194C>T (p.Arg732Cys) c.1945C>T (p.Arg649Cys) c.1853C>T (n.1853C>T) n.2379C>T c.2203C>T (p.Arg735Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301990_6302012dup | CA797210000 | WFS1 | c.2231_2253dup (p.Pro752AlafsTer?) c.2172_2194dup c.2195_2217dup (p.Pro740AlafsTer?) c.1946_1968dup (p.Pro657AlafsTer?) c.1854_1876dup (n.1854_1876dup) n.2380_2402dup c.2204_2226dup (p.Pro743AlafsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301990G>A | CA321654 | WFS1 | c.2231G>A (p.Arg744His) c.2172G>A c.2195G>A (p.Arg732His) c.1946G>A (p.Arg649His) c.1854G>A (n.1854G>A) n.2380G>A c.2204G>A (p.Arg735His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301990G>C | CA356178075 | WFS1 | c.2231G>C (p.Arg744Pro) c.2172G>C c.2195G>C (p.Arg732Pro) c.1946G>C (p.Arg649Pro) c.1854G>C (n.1854G>C) n.2380G>C c.2204G>C (p.Arg735Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301990G= | CA1435772168 | WFS1 | c.2231G= (p.Arg744=) c.2172G= c.2195G= (p.Arg732=) c.1946G= (p.Arg649=) c.1854G= (n.1854G=) n.2380G= c.2204G= (p.Arg735=) | |
| 4 | g.6301990G>T | CA356178076 | WFS1 | c.2231G>T (p.Arg744Leu) c.2172G>T c.2195G>T (p.Arg732Leu) c.1946G>T (p.Arg649Leu) c.1854G>T (n.1854G>T) n.2380G>T c.2204G>T (p.Arg735Leu) | gnomAD v4 |
| 4 | g.6301991C>A | CA2839642 | WFS1 | c.2232C>A (p.Arg744=) c.2173C>A c.2196C>A (p.Arg732=) c.1947C>A (p.Arg649=) c.1855C>A (n.1855C>A) n.2381C>A c.2205C>A (p.Arg735=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301991C= | CA1435772170 | WFS1 | c.2232C= (p.Arg744=) c.2173C= c.2196C= (p.Arg732=) c.1947C= (p.Arg649=) c.1855C= (n.1855C=) n.2381C= c.2205C= (p.Arg735=) | |
| 4 | g.6301991C>G | CA438368706 | WFS1 | c.2232C>G (p.Arg744=) c.2173C>G c.2196C>G (p.Arg732=) c.1947C>G (p.Arg649=) c.1855C>G (n.1855C>G) n.2381C>G c.2205C>G (p.Arg735=) | |
| 4 | g.6301991C>T | CA438368708 | WFS1 | c.2232C>T (p.Arg744=) c.2173C>T c.2196C>T (p.Arg732=) c.1947C>T (p.Arg649=) c.1855C>T (n.1855C>T) n.2381C>T c.2205C>T (p.Arg735=) | gnomAD v4 |
| 4 | g.6301992T>A | CA356178082 | WFS1 | c.2233T>A (p.Cys745Ser) c.2174T>A c.2197T>A (p.Cys733Ser) c.1948T>A (p.Cys650Ser) c.1856T>A (n.1856T>A) n.2382T>A c.2206T>A (p.Cys736Ser) | |
| 4 | g.6301992T>C | CA356178079 | WFS1 | c.2233T>C (p.Cys745Arg) c.2174T>C c.2197T>C (p.Cys733Arg) c.1948T>C (p.Cys650Arg) c.1856T>C (n.1856T>C) n.2382T>C c.2206T>C (p.Cys736Arg) | |
| 4 | g.6301992T>G | CA356178081 | WFS1 | c.2233T>G (p.Cys745Gly) c.2174T>G c.2197T>G (p.Cys733Gly) c.1948T>G (p.Cys650Gly) c.1856T>G (n.1856T>G) n.2382T>G c.2206T>G (p.Cys736Gly) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301993G>A | CA91796929 | WFS1 | c.2234G>A (p.Cys745Tyr) c.2175G>A c.2198G>A (p.Cys733Tyr) c.1949G>A (p.Cys650Tyr) c.1857G>A (n.1857G>A) n.2383G>A c.2207G>A (p.Cys736Tyr) | dbSNP gnomAD v4 |
| 4 | g.6301993G>C | CA356178085 | WFS1 | c.2234G>C (p.Cys745Ser) c.2175G>C c.2198G>C (p.Cys733Ser) c.1949G>C (p.Cys650Ser) c.1857G>C (n.1857G>C) n.2383G>C c.2207G>C (p.Cys736Ser) | |
| 4 | g.6301993G= | CA1435772172 | WFS1 | c.2234G= (p.Cys745=) c.2175G= c.2198G= (p.Cys733=) c.1949G= (p.Cys650=) c.1857G= (n.1857G=) n.2383G= c.2207G= (p.Cys736=) | |
| 4 | g.6301993G>T | CA356178086 | WFS1 | c.2234G>T (p.Cys745Phe) c.2175G>T c.2198G>T (p.Cys733Phe) c.1949G>T (p.Cys650Phe) c.1857G>T (n.1857G>T) n.2383G>T c.2207G>T (p.Cys736Phe) | gnomAD v4 |
| 4 | g.6301994C>A | CA356178087 | WFS1 | c.2235C>A (p.Cys745Ter) c.2176C>A c.2199C>A (p.Cys733Ter) c.1950C>A (p.Cys650Ter) c.1858C>A (n.1858C>A) n.2384C>A c.2208C>A (p.Cys736Ter) | dbSNP |
| 4 | g.6301994C= | CA1435772173 | WFS1 | c.2235C= (p.Cys745=) c.2176C= c.2199C= (p.Cys733=) c.1950C= (p.Cys650=) c.1858C= (n.1858C=) n.2384C= c.2208C= (p.Cys736=) | |
| 4 | g.6301994C>G | CA356178088 | WFS1 | c.2235C>G (p.Cys745Trp) c.2176C>G c.2199C>G (p.Cys733Trp) c.1950C>G (p.Cys650Trp) c.1858C>G (n.1858C>G) n.2384C>G c.2208C>G (p.Cys736Trp) | gnomAD v4 |
| 4 | g.6301994C>T | CA91796932 | WFS1 | c.2235C>T (p.Cys745=) c.2176C>T c.2199C>T (p.Cys733=) c.1950C>T (p.Cys650=) c.1858C>T (n.1858C>T) n.2384C>T c.2208C>T (p.Cys736=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301995C>A | CA356178089 | WFS1 | c.2236C>A (p.Leu746Ile) c.2177C>A c.2200C>A (p.Leu734Ile) c.1951C>A (p.Leu651Ile) c.1859C>A (n.1859C>A) n.2385C>A c.2209C>A (p.Leu737Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301995C= | CA1435772175 | WFS1 | c.2236C= (p.Leu746=) c.2177C= c.2200C= (p.Leu734=) c.1951C= (p.Leu651=) c.1859C= (n.1859C=) n.2385C= c.2209C= (p.Leu737=) | |
| 4 | g.6301995C>G | CA356178090 | WFS1 | c.2236C>G (p.Leu746Val) c.2177C>G c.2200C>G (p.Leu734Val) c.1951C>G (p.Leu651Val) c.1859C>G (n.1859C>G) n.2385C>G c.2209C>G (p.Leu737Val) | |
| 4 | g.6301995C>T | CA2839643 | WFS1 | c.2236C>T (p.Leu746Phe) c.2177C>T c.2200C>T (p.Leu734Phe) c.1951C>T (p.Leu651Phe) c.1859C>T (n.1859C>T) n.2385C>T c.2209C>T (p.Leu737Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301996T>A | CA356178091 | WFS1 | c.2237T>A (p.Leu746His) c.2178T>A c.2201T>A (p.Leu734His) c.1952T>A (p.Leu651His) c.1860T>A (n.1860T>A) n.2386T>A c.2210T>A (p.Leu737His) | ClinVar dbSNP |
| 4 | g.6301996T>C | CA356178093 | WFS1 | c.2237T>C (p.Leu746Pro) c.2178T>C c.2201T>C (p.Leu734Pro) c.1952T>C (p.Leu651Pro) c.1860T>C (n.1860T>C) n.2386T>C c.2210T>C (p.Leu737Pro) | |
| 4 | g.6301996T>G | CA356178094 | WFS1 | c.2237T>G (p.Leu746Arg) c.2178T>G c.2201T>G (p.Leu734Arg) c.1952T>G (p.Leu651Arg) c.1860T>G (n.1860T>G) n.2386T>G c.2210T>G (p.Leu737Arg) | dbSNP |
| 4 | g.6301996T= | CA1435772177 | WFS1 | c.2237T= (p.Leu746=) c.2178T= c.2201T= (p.Leu734=) c.1952T= (p.Leu651=) c.1860T= (n.1860T=) n.2386T= c.2210T= (p.Leu737=) | |
| 4 | g.6301997C>A | CA438368710 | WFS1 | c.2238C>A (p.Leu746=) c.2179C>A c.2202C>A (p.Leu734=) c.1953C>A (p.Leu651=) c.1861C>A (n.1861C>A) n.2387C>A c.2211C>A (p.Leu737=) | |
| 4 | g.6301997C= | CA1435772179 | WFS1 | c.2238C= (p.Leu746=) c.2179C= c.2202C= (p.Leu734=) c.1953C= (p.Leu651=) c.1861C= (n.1861C=) n.2387C= c.2211C= (p.Leu737=) | |
| 4 | g.6301997C>G | CA438368711 | WFS1 | c.2238C>G (p.Leu746=) c.2179C>G c.2202C>G (p.Leu734=) c.1953C>G (p.Leu651=) c.1861C>G (n.1861C>G) n.2387C>G c.2211C>G (p.Leu737=) | ClinVar dbSNP gnomAD v2 |
| 4 | g.6301997C>T | CA136350 | WFS1 | c.2238C>T (p.Leu746=) c.2179C>T c.2202C>T (p.Leu734=) c.1953C>T (p.Leu651=) c.1861C>T (n.1861C>T) n.2387C>T c.2211C>T (p.Leu737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301998T>A | CA356178101 | WFS1 | c.2239T>A (p.Tyr747Asn) c.2180T>A c.2203T>A (p.Tyr735Asn) c.1954T>A (p.Tyr652Asn) c.1862T>A (n.1862T>A) n.2388T>A c.2212T>A (p.Tyr738Asn) | dbSNP gnomAD v4 |
| 4 | g.6301998T>C | CA356178099 | WFS1 | c.2239T>C (p.Tyr747His) c.2180T>C c.2203T>C (p.Tyr735His) c.1954T>C (p.Tyr652His) c.1862T>C (n.1862T>C) n.2388T>C c.2212T>C (p.Tyr738His) | gnomAD v4 |
| 4 | g.6301998T>G | CA356178098 | WFS1 | c.2239T>G (p.Tyr747Asp) c.2180T>G c.2203T>G (p.Tyr735Asp) c.1954T>G (p.Tyr652Asp) c.1862T>G (n.1862T>G) n.2388T>G c.2212T>G (p.Tyr738Asp) | |
| 4 | g.6301998T= | CA1435772181 | WFS1 | c.2239T= (p.Tyr747=) c.2180T= c.2203T= (p.Tyr735=) c.1954T= (p.Tyr652=) c.1862T= (n.1862T=) n.2388T= c.2212T= (p.Tyr738=) | |
| 4 | g.6301998_6302011del | CA2669843451 | WFS1 | c.2239_2252del (p.Tyr747ProfsTer19) c.2180_2193del c.2203_2216del (p.Tyr735ProfsTer19) c.1954_1967del (p.Tyr652ProfsTer19) c.1862_1875del (n.1862_1875del) n.2388_2401del c.2212_2225del (p.Tyr738ProfsTer19) | gnomAD v4 |
| 4 | g.6301999A= | CA1435772182 | WFS1 | c.2240A= (p.Tyr747=) c.2181A= c.2204A= (p.Tyr735=) c.1955A= (p.Tyr652=) c.1863A= (n.1863A=) n.2389A= c.2213A= (p.Tyr738=) | |
| 4 | g.6301999A>C | CA356178103 | WFS1 | c.2240A>C (p.Tyr747Ser) c.2181A>C c.2204A>C (p.Tyr735Ser) c.1955A>C (p.Tyr652Ser) c.1863A>C (n.1863A>C) n.2389A>C c.2213A>C (p.Tyr738Ser) | |
| 4 | g.6301999A>G | CA356178104 | WFS1 | c.2240A>G (p.Tyr747Cys) c.2181A>G c.2204A>G (p.Tyr735Cys) c.1955A>G (p.Tyr652Cys) c.1863A>G (n.1863A>G) n.2389A>G c.2213A>G (p.Tyr738Cys) | dbSNP gnomAD v4 |
| 4 | g.6301999A>T | CA356178105 | WFS1 | c.2240A>T (p.Tyr747Phe) c.2181A>T c.2204A>T (p.Tyr735Phe) c.1955A>T (p.Tyr652Phe) c.1863A>T (n.1863A>T) n.2389A>T c.2213A>T (p.Tyr738Phe) | |
| 4 | g.6302000C>A | CA356178107 | WFS1 | c.2241C>A (p.Tyr747Ter) c.2182C>A c.2205C>A (p.Tyr735Ter) c.1956C>A (p.Tyr652Ter) c.1864C>A (n.1864C>A) n.2390C>A c.2214C>A (p.Tyr738Ter) | dbSNP gnomAD v2 |
| 4 | g.6302000C= | CA1435772185 | WFS1 | c.2241C= (p.Tyr747=) c.2182C= c.2205C= (p.Tyr735=) c.1956C= (p.Tyr652=) c.1864C= (n.1864C=) n.2390C= c.2214C= (p.Tyr738=) | |
| 4 | g.6302000C>G | CA356178109 | WFS1 | c.2241C>G (p.Tyr747Ter) c.2182C>G c.2205C>G (p.Tyr735Ter) c.1956C>G (p.Tyr652Ter) c.1864C>G (n.1864C>G) n.2390C>G c.2214C>G (p.Tyr738Ter) | ClinVar dbSNP |
| 4 | g.6302000C>T | CA295795 | WFS1 | c.2241C>T (p.Tyr747=) c.2182C>T c.2205C>T (p.Tyr735=) c.1956C>T (p.Tyr652=) c.1864C>T (n.1864C>T) n.2390C>T c.2214C>T (p.Tyr738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6302000_6302001delinsCG | CA1435772183 | WFS1 | c.2241_2242delinsCG (p.Tyr747=) c.2182_2183delinsCG c.2205_2206delinsCG (p.Tyr735=) c.1956_1957delinsCG (p.Tyr652=) c.1864_1865delinsCG (n.1864_1865delinsCG) n.2390_2391delinsCG c.2214_2215delinsCG (p.Tyr738=) | |
| 4 | g.6302001G>A | CA2839644 | WFS1 | c.2242G>A (p.Gly748Ser) c.2183G>A c.2206G>A (p.Gly736Ser) c.1957G>A (p.Gly653Ser) c.1865G>A (n.1865G>A) n.2391G>A c.2215G>A (p.Gly739Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302001G>C | CA91796940 | WFS1 | c.2242G>C (p.Gly748Arg) c.2183G>C c.2206G>C (p.Gly736Arg) c.1957G>C (p.Gly653Arg) c.1865G>C (n.1865G>C) n.2391G>C c.2215G>C (p.Gly739Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302001G= | CA1435772187 | WFS1 | c.2242G= (p.Gly748=) c.2183G= c.2206G= (p.Gly736=) c.1957G= (p.Gly653=) c.1865G= (n.1865G=) n.2391G= c.2215G= (p.Gly739=) | |
| 4 | g.6302001G>T | CA356178113 | WFS1 | c.2242G>T (p.Gly748Cys) c.2183G>T c.2206G>T (p.Gly736Cys) c.1957G>T (p.Gly653Cys) c.1865G>T (n.1865G>T) n.2391G>T c.2215G>T (p.Gly739Cys) | |
| 4 | g.6302002del | CA1435772186 | WFS1 | c.2243del (p.Gly748AlafsTer?) c.2184del c.2207del (p.Gly736AlafsTer?) c.1958del (p.Gly653AlafsTer?) c.1866del (n.1866del) n.2392del c.2216del (p.Gly739AlafsTer?) | dbSNP |
| 4 | g.6302001_6302005delinsGGCGA | CA1435772188 | WFS1 | c.2242_2246delinsGGCGA (p.Gly748=) c.2183_2187delinsGGCGA c.2206_2210delinsGGCGA (p.Gly736=) c.1957_1961delinsGGCGA (p.Gly653=) c.1865_1869delinsGGCGA (n.1865_1869delinsGGCGA) n.2391_2395delinsGGCGA c.2215_2219delinsGGCGA (p.Gly739=) | |
| 4 | g.6302002G>A | CA91796942 | WFS1 | c.2243G>A (p.Gly748Asp) c.2184G>A c.2207G>A (p.Gly736Asp) c.1958G>A (p.Gly653Asp) c.1866G>A (n.1866G>A) n.2392G>A c.2216G>A (p.Gly739Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302002G>C | CA356178116 | WFS1 | c.2243G>C (p.Gly748Ala) c.2184G>C c.2207G>C (p.Gly736Ala) c.1958G>C (p.Gly653Ala) c.1866G>C (n.1866G>C) n.2392G>C c.2216G>C (p.Gly739Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6302002G= | CA1435772191 | WFS1 | c.2243G= (p.Gly748=) c.2184G= c.2207G= (p.Gly736=) c.1958G= (p.Gly653=) c.1866G= (n.1866G=) n.2392G= c.2216G= (p.Gly739=) | |
| 4 | g.6302002G>T | CA356178118 | WFS1 | c.2243G>T (p.Gly748Val) c.2184G>T c.2207G>T (p.Gly736Val) c.1958G>T (p.Gly653Val) c.1866G>T (n.1866G>T) n.2392G>T c.2216G>T (p.Gly739Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6302003_6302006del | CA16621816 | WFS1 | c.2244_2247del (p.Glu749ProfsTer?) c.2185_2188del c.2208_2211del (p.Glu737ProfsTer?) c.1959_1962del (p.Glu654ProfsTer?) c.1867_1870del (n.1867_1870del) n.2393_2396del c.2217_2220del (p.Glu740ProfsTer?) | ClinVar dbSNP gnomAD v2 |
| 4 | g.6302003C>A | CA438368719 | WFS1 | c.2244C>A (p.Gly748=) c.2185C>A c.2208C>A (p.Gly736=) c.1959C>A (p.Gly653=) c.1867C>A (n.1867C>A) n.2393C>A c.2217C>A (p.Gly739=) | |
| 4 | g.6302003C= | CA1435772195 | WFS1 | c.2244C= (p.Gly748=) c.2185C= c.2208C= (p.Gly736=) c.1959C= (p.Gly653=) c.1867C= (n.1867C=) n.2393C= c.2217C= (p.Gly739=) | |
| 4 | g.6302003C>G | CA438368721 | WFS1 | c.2244C>G (p.Gly748=) c.2185C>G c.2208C>G (p.Gly736=) c.1959C>G (p.Gly653=) c.1867C>G (n.1867C>G) n.2393C>G c.2217C>G (p.Gly739=) | gnomAD v4 |
| 4 | g.6302003C>T | CA2839645 | WFS1 | c.2244C>T (p.Gly748=) c.2185C>T c.2208C>T (p.Gly736=) c.1959C>T (p.Gly653=) c.1867C>T (n.1867C>T) n.2393C>T c.2217C>T (p.Gly739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302004G>A | CA232844 | WFS1 | c.2245G>A (p.Glu749Lys) c.2186G>A c.2209G>A (p.Glu737Lys) c.1960G>A (p.Glu654Lys) c.1868G>A (n.1868G>A) n.2394G>A c.2218G>A (p.Glu740Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302004G>C | CA356178122 | WFS1 | c.2245G>C (p.Glu749Gln) c.2186G>C c.2209G>C (p.Glu737Gln) c.1960G>C (p.Glu654Gln) c.1868G>C (n.1868G>C) n.2394G>C c.2218G>C (p.Glu740Gln) | gnomAD v4 |
| 4 | g.6302004G= | CA1435772198 | WFS1 | c.2245G= (p.Glu749=) c.2186G= c.2209G= (p.Glu737=) c.1960G= (p.Glu654=) c.1868G= (n.1868G=) n.2394G= c.2218G= (p.Glu740=) | |
| 4 | g.6302004G>T | CA356178120 | WFS1 | c.2245G>T (p.Glu749Ter) c.2186G>T c.2209G>T (p.Glu737Ter) c.1960G>T (p.Glu654Ter) c.1868G>T (n.1868G>T) n.2394G>T c.2218G>T (p.Glu740Ter) | |
| 4 | g.6302005A>C | CA356178123 | WFS1 | c.2246A>C (p.Glu749Ala) c.2187A>C c.2210A>C (p.Glu737Ala) c.1961A>C (p.Glu654Ala) c.1869A>C (n.1869A>C) n.2395A>C c.2219A>C (p.Glu740Ala) | |
| 4 | g.6302005A>G | CA356178127 | WFS1 | c.2246A>G (p.Glu749Gly) c.2187A>G c.2210A>G (p.Glu737Gly) c.1961A>G (p.Glu654Gly) c.1869A>G (n.1869A>G) n.2395A>G c.2219A>G (p.Glu740Gly) | gnomAD v4 |
| 4 | g.6302005A>T | CA356178125 | WFS1 | c.2246A>T (p.Glu749Val) c.2187A>T c.2210A>T (p.Glu737Val) c.1961A>T (p.Glu654Val) c.1869A>T (n.1869A>T) n.2395A>T c.2219A>T (p.Glu740Val) | |
| 4 | g.6302006G>A | CA438368722 | WFS1 | c.2247G>A (p.Glu749=) c.2188G>A c.2211G>A (p.Glu737=) c.1962G>A (p.Glu654=) c.1870G>A (n.1870G>A) n.2396G>A c.2220G>A (p.Glu740=) | |
| 4 | g.6302006G>C | CA356178128 | WFS1 | c.2247G>C (p.Glu749Asp) c.2188G>C c.2211G>C (p.Glu737Asp) c.1962G>C (p.Glu654Asp) c.1870G>C (n.1870G>C) n.2396G>C c.2220G>C (p.Glu740Asp) | |
| 4 | g.6302006G>T | CA356178129 | WFS1 | c.2247G>T (p.Glu749Asp) c.2188G>T c.2211G>T (p.Glu737Asp) c.1962G>T (p.Glu654Asp) c.1870G>T (n.1870G>T) n.2396G>T c.2220G>T (p.Glu740Asp) | |
| 4 | g.6302007G>A | CA2839646 | WFS1 | c.2248G>A (p.Ala750Thr) c.2189G>A c.2212G>A (p.Ala738Thr) c.1963G>A (p.Ala655Thr) c.1871G>A (n.1871G>A) n.2397G>A c.2221G>A (p.Ala741Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302007G>C | CA356178132 | WFS1 | c.2248G>C (p.Ala750Pro) c.2189G>C c.2212G>C (p.Ala738Pro) c.1963G>C (p.Ala655Pro) c.1871G>C (n.1871G>C) n.2397G>C c.2221G>C (p.Ala741Pro) | |
| 4 | g.6302007G= | CA1435772201 | WFS1 | c.2248G= (p.Ala750=) c.2189G= c.2212G= (p.Ala738=) c.1963G= (p.Ala655=) c.1871G= (n.1871G=) n.2397G= c.2221G= (p.Ala741=) | |
| 4 | g.6302007G>T | CA356178134 | WFS1 | c.2248G>T (p.Ala750Ser) c.2189G>T c.2212G>T (p.Ala738Ser) c.1963G>T (p.Ala655Ser) c.1871G>T (n.1871G>T) n.2397G>T c.2221G>T (p.Ala741Ser) | |
| 4 | g.6302008C>A | CA2839647 | WFS1 | c.2249C>A (p.Ala750Asp) c.2190C>A c.2213C>A (p.Ala738Asp) c.1964C>A (p.Ala655Asp) c.1872C>A (n.1872C>A) n.2398C>A c.2222C>A (p.Ala741Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302008C= | CA1435772203 | WFS1 | c.2249C= (p.Ala750=) c.2190C= c.2213C= (p.Ala738=) c.1964C= (p.Ala655=) c.1872C= (n.1872C=) n.2398C= c.2222C= (p.Ala741=) | |
| 4 | g.6302008C>G | CA356178137 | WFS1 | c.2249C>G (p.Ala750Gly) c.2190C>G c.2213C>G (p.Ala738Gly) c.1964C>G (p.Ala655Gly) c.1872C>G (n.1872C>G) n.2398C>G c.2222C>G (p.Ala741Gly) | gnomAD v4 |
| 4 | g.6302008C>T | CA356178139 | WFS1 | c.2249C>T (p.Ala750Val) c.2190C>T c.2213C>T (p.Ala738Val) c.1964C>T (p.Ala655Val) c.1872C>T (n.1872C>T) n.2398C>T c.2222C>T (p.Ala741Val) | gnomAD v4 COSMIC |
| 4 | g.6302009C>A | CA438368730 | WFS1 | c.2250C>A (p.Ala750=) c.2191C>A c.2214C>A (p.Ala738=) c.1965C>A (p.Ala655=) c.1873C>A (n.1873C>A) n.2399C>A c.2223C>A (p.Ala741=) | |
| 4 | g.6302009C= | CA1435772205 | WFS1 | c.2250C= (p.Ala750=) c.2191C= c.2214C= (p.Ala738=) c.1965C= (p.Ala655=) c.1873C= (n.1873C=) n.2399C= c.2223C= (p.Ala741=) | |
| 4 | g.6302009C>G | CA438368729 | WFS1 | c.2250C>G (p.Ala750=) c.2191C>G c.2214C>G (p.Ala738=) c.1965C>G (p.Ala655=) c.1873C>G (n.1873C>G) n.2399C>G c.2223C>G (p.Ala741=) | |
| 4 | g.6302009C>T | CA438368728 | WFS1 | c.2250C>T (p.Ala750=) c.2191C>T c.2214C>T (p.Ala738=) c.1965C>T (p.Ala655=) c.1873C>T (n.1873C>T) n.2399C>T c.2223C>T (p.Ala741=) | dbSNP gnomAD v4 |
| 4 | g.6302010T>A | CA356178141 | WFS1 | c.2251T>A (p.Tyr751Asn) c.2192T>A c.2215T>A (p.Tyr739Asn) c.1966T>A (p.Tyr656Asn) c.1874T>A (n.1874T>A) n.2400T>A c.2224T>A (p.Tyr742Asn) | |
| 4 | g.6302010T>C | CA356178143 | WFS1 | c.2251T>C (p.Tyr751His) c.2192T>C c.2215T>C (p.Tyr739His) c.1966T>C (p.Tyr656His) c.1874T>C (n.1874T>C) n.2400T>C c.2224T>C (p.Tyr742His) | |
| 4 | g.6302010T>G | CA91796952 | WFS1 | c.2251T>G (p.Tyr751Asp) c.2192T>G c.2215T>G (p.Tyr739Asp) c.1966T>G (p.Tyr656Asp) c.1874T>G (n.1874T>G) n.2400T>G c.2224T>G (p.Tyr742Asp) | dbSNP |
| 4 | g.6302010T= | CA1435772207 | WFS1 | c.2251T= (p.Tyr751=) c.2192T= c.2215T= (p.Tyr739=) c.1966T= (p.Tyr656=) c.1874T= (n.1874T=) n.2400T= c.2224T= (p.Tyr742=) | |
| 4 | g.6302011A= | CA1435772208 | WFS1 | c.2252A= (p.Tyr751=) c.2193A= c.2216A= (p.Tyr739=) c.1967A= (p.Tyr656=) c.1875A= (n.1875A=) n.2401A= c.2225A= (p.Tyr742=) | |
| 4 | g.6302011A>C | CA356178149 | WFS1 | c.2252A>C (p.Tyr751Ser) c.2193A>C c.2216A>C (p.Tyr739Ser) c.1967A>C (p.Tyr656Ser) c.1875A>C (n.1875A>C) n.2401A>C c.2225A>C (p.Tyr742Ser) | dbSNP |
| 4 | g.6302011A>G | CA356178146 | WFS1 | c.2252A>G (p.Tyr751Cys) c.2193A>G c.2216A>G (p.Tyr739Cys) c.1967A>G (p.Tyr656Cys) c.1875A>G (n.1875A>G) n.2401A>G c.2225A>G (p.Tyr742Cys) | COSMIC |
| 4 | g.6302011A>T | CA356178148 | WFS1 | c.2252A>T (p.Tyr751Phe) c.2193A>T c.2216A>T (p.Tyr739Phe) c.1967A>T (p.Tyr656Phe) c.1875A>T (n.1875A>T) n.2401A>T c.2225A>T (p.Tyr742Phe) | |
| 4 | g.6302012C>A | CA356178151 | WFS1 | c.2253C>A (p.Tyr751Ter) c.2194C>A c.2217C>A (p.Tyr739Ter) c.1968C>A (p.Tyr656Ter) c.1876C>A (n.1876C>A) n.2402C>A c.2226C>A (p.Tyr742Ter) | |
| 4 | g.6302012C>G | CA356178153 | WFS1 | c.2253C>G (p.Tyr751Ter) c.2194C>G c.2217C>G (p.Tyr739Ter) c.1968C>G (p.Tyr656Ter) c.1876C>G (n.1876C>G) n.2402C>G c.2226C>G (p.Tyr742Ter) | |
| 4 | g.6302012C>T | CA438368732 | WFS1 | c.2253C>T (p.Tyr751=) c.2194C>T c.2217C>T (p.Tyr739=) c.1968C>T (p.Tyr656=) c.1876C>T (n.1876C>T) n.2402C>T c.2226C>T (p.Tyr742=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6302013C>A | CA356178155 | WFS1 | c.2254C>A (p.Pro752Thr) c.2195C>A c.2218C>A (p.Pro740Thr) c.1969C>A (p.Pro657Thr) c.1877C>A (n.1877C>A) n.2403C>A c.2227C>A (p.Pro743Thr) | gnomAD v4 |
| 4 | g.6302013C= | CA1435772211 | WFS1 | c.2254C= (p.Pro752=) c.2195C= c.2218C= (p.Pro740=) c.1969C= (p.Pro657=) c.1877C= (n.1877C=) n.2403C= c.2227C= (p.Pro743=) | |
| 4 | g.6302013C>G | CA356178157 | WFS1 | c.2254C>G (p.Pro752Ala) c.2195C>G c.2218C>G (p.Pro740Ala) c.1969C>G (p.Pro657Ala) c.1877C>G (n.1877C>G) n.2403C>G c.2227C>G (p.Pro743Ala) | |
| 4 | g.6302013C>T | CA2839648 | WFS1 | c.2254C>T (p.Pro752Ser) c.2195C>T c.2218C>T (p.Pro740Ser) c.1969C>T (p.Pro657Ser) c.1877C>T (n.1877C>T) n.2403C>T c.2227C>T (p.Pro743Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302014C>A | CA2839650 | WFS1 | c.2255C>A (p.Pro752His) c.2196C>A c.2219C>A (p.Pro740His) c.1970C>A (p.Pro657His) c.1878C>A (n.1878C>A) n.2404C>A c.2228C>A (p.Pro743His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302014C= | CA1435772213 | WFS1 | c.2255C= (p.Pro752=) c.2196C= c.2219C= (p.Pro740=) c.1970C= (p.Pro657=) c.1878C= (n.1878C=) n.2404C= c.2228C= (p.Pro743=) | |
| 4 | g.6302014C>G | CA356178160 | WFS1 | c.2255C>G (p.Pro752Arg) c.2196C>G c.2219C>G (p.Pro740Arg) c.1970C>G (p.Pro657Arg) c.1878C>G (n.1878C>G) n.2404C>G c.2228C>G (p.Pro743Arg) | |
| 4 | g.6302014C>T | CA2839649 | WFS1 | c.2255C>T (p.Pro752Leu) c.2196C>T c.2219C>T (p.Pro740Leu) c.1970C>T (p.Pro657Leu) c.1878C>T (n.1878C>T) n.2404C>T c.2228C>T (p.Pro743Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302015T>A | CA438368736 | WFS1 | c.2256T>A (p.Pro752=) c.2197T>A c.2220T>A (p.Pro740=) c.1971T>A (p.Pro657=) c.1879T>A (n.1879T>A) n.2405T>A c.2229T>A (p.Pro743=) | |
| 4 | g.6302015T>C | CA438368737 | WFS1 | c.2256T>C (p.Pro752=) c.2197T>C c.2220T>C (p.Pro740=) c.1971T>C (p.Pro657=) c.1879T>C (n.1879T>C) n.2405T>C c.2229T>C (p.Pro743=) | |
| 4 | g.6302015T>G | CA438368738 | WFS1 | c.2256T>G (p.Pro752=) c.2197T>G c.2220T>G (p.Pro740=) c.1971T>G (p.Pro657=) c.1879T>G (n.1879T>G) n.2405T>G c.2229T>G (p.Pro743=) | |
| 4 | g.6302016G>A | CA356178162 | WFS1 | c.2257G>A (p.Ala753Thr) c.2198G>A c.2221G>A (p.Ala741Thr) c.1972G>A (p.Ala658Thr) c.1880G>A (n.1880G>A) n.2406G>A c.2230G>A (p.Ala744Thr) | |
| 4 | g.6302016G>C | CA356178164 | WFS1 | c.2257G>C (p.Ala753Pro) c.2198G>C c.2221G>C (p.Ala741Pro) c.1972G>C (p.Ala658Pro) c.1880G>C (n.1880G>C) n.2406G>C c.2230G>C (p.Ala744Pro) | gnomAD v4 |
| 4 | g.6302016G>T | CA356178166 | WFS1 | c.2257G>T (p.Ala753Ser) c.2198G>T c.2221G>T (p.Ala741Ser) c.1972G>T (p.Ala658Ser) c.1880G>T (n.1880G>T) n.2406G>T c.2230G>T (p.Ala744Ser) | |
| 4 | g.6302017C>A | CA356178167 | WFS1 | c.2258C>A (p.Ala753Asp) c.2199C>A c.2222C>A (p.Ala741Asp) c.1973C>A (p.Ala658Asp) c.1881C>A (n.1881C>A) n.2407C>A c.2231C>A (p.Ala744Asp) | COSMIC |
| 4 | g.6302017C= | CA1435772214 | WFS1 | c.2258C= (p.Ala753=) c.2199C= c.2222C= (p.Ala741=) c.1973C= (p.Ala658=) c.1881C= (n.1881C=) n.2407C= c.2231C= (p.Ala744=) | |
| 4 | g.6302017C>G | CA2839651 | WFS1 | c.2258C>G (p.Ala753Gly) c.2199C>G c.2222C>G (p.Ala741Gly) c.1973C>G (p.Ala658Gly) c.1881C>G (n.1881C>G) n.2407C>G c.2231C>G (p.Ala744Gly) | dbSNP ExAC gnomAD v2 |
| 4 | g.6302017C>T | CA323939 | WFS1 | c.2258C>T (p.Ala753Val) c.2199C>T c.2222C>T (p.Ala741Val) c.1973C>T (p.Ala658Val) c.1881C>T (n.1881C>T) n.2407C>T c.2231C>T (p.Ala744Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302018C>A | CA2839653 | WFS1 | c.2259C>A (p.Ala753=) c.2200C>A c.2223C>A (p.Ala741=) c.1974C>A (p.Ala658=) c.1882C>A (n.1882C>A) n.2408C>A c.2232C>A (p.Ala744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302018C= | CA1435772216 | WFS1 | c.2259C= (p.Ala753=) c.2200C= c.2223C= (p.Ala741=) c.1974C= (p.Ala658=) c.1882C= (n.1882C=) n.2408C= c.2232C= (p.Ala744=) | |
| 4 | g.6302018C>G | CA438368741 | WFS1 | c.2259C>G (p.Ala753=) c.2200C>G c.2223C>G (p.Ala741=) c.1974C>G (p.Ala658=) c.1882C>G (n.1882C>G) n.2408C>G c.2232C>G (p.Ala744=) | |
| 4 | g.6302018C>T | CA2839652 | WFS1 | c.2259C>T (p.Ala753=) c.2200C>T c.2223C>T (p.Ala741=) c.1974C>T (p.Ala658=) c.1882C>T (n.1882C>T) n.2408C>T c.2232C>T (p.Ala744=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302019T>A | CA356178168 | WFS1 | c.2260T>A (p.Cys754Ser) c.2201T>A c.2224T>A (p.Cys742Ser) c.1975T>A (p.Cys659Ser) c.1883T>A (n.1883T>A) n.2409T>A c.2233T>A (p.Cys745Ser) | |
| 4 | g.6302019T>C | CA91796965 | WFS1 | c.2260T>C (p.Cys754Arg) c.2201T>C c.2224T>C (p.Cys742Arg) c.1975T>C (p.Cys659Arg) c.1883T>C (n.1883T>C) n.2409T>C c.2233T>C (p.Cys745Arg) | ClinVar dbSNP |
| 4 | g.6302019T>G | CA356178169 | WFS1 | c.2260T>G (p.Cys754Gly) c.2201T>G c.2224T>G (p.Cys742Gly) c.1975T>G (p.Cys659Gly) c.1883T>G (n.1883T>G) n.2409T>G c.2233T>G (p.Cys745Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302019T= | CA1435772218 | WFS1 | c.2260T= (p.Cys754=) c.2201T= c.2224T= (p.Cys742=) c.1975T= (p.Cys659=) c.1883T= (n.1883T=) n.2409T= c.2233T= (p.Cys745=) | |
| 4 | g.6302019dup | CA915944126 | WFS1 | c.2260dup (p.Cys754LeufsTer17) c.2201dup c.2224dup (p.Cys742LeufsTer17) c.1975dup (p.Cys659LeufsTer17) c.1883dup (n.1883dup) n.2409dup c.2233dup (p.Cys745LeufsTer17) | ClinVar dbSNP |
| 4 | g.6302019_6302042delinsTGCAGCCCTGGCAACACCTCCACG | CA1435772217 | WFS1 | c.2260_2283delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys754=) c.2201_2224delinsTGCAGCCCTGGCAACACCTCCACG c.2224_2247delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys742=) c.1975_1998delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys659=) c.1883_1906delinsTGCAGCCCTGGCAACACCTCCACG (n.1883_1906delinsTGCAGCCCTGGCAACACCTCCACG) n.2409_2432delinsTGCAGCCCTGGCAACACCTCCACG c.2233_2256delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys745=) | |
| 4 | g.6302020G>A | CA2839654 | WFS1 | c.2261G>A (p.Cys754Tyr) c.2202G>A c.2225G>A (p.Cys742Tyr) c.1976G>A (p.Cys659Tyr) c.1884G>A (n.1884G>A) n.2410G>A c.2234G>A (p.Cys745Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302020G>C | CA356178170 | WFS1 | c.2261G>C (p.Cys754Ser) c.2202G>C c.2225G>C (p.Cys742Ser) c.1976G>C (p.Cys659Ser) c.1884G>C (n.1884G>C) n.2410G>C c.2234G>C (p.Cys745Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302020G= | CA1435772222 | WFS1 | c.2261G= (p.Cys754=) c.2202G= c.2225G= (p.Cys742=) c.1976G= (p.Cys659=) c.1884G= (n.1884G=) n.2410G= c.2234G= (p.Cys745=) | |
| 4 | g.6302020G>T | CA356178171 | WFS1 | c.2261G>T (p.Cys754Phe) c.2202G>T c.2225G>T (p.Cys742Phe) c.1976G>T (p.Cys659Phe) c.1884G>T (n.1884G>T) n.2410G>T c.2234G>T (p.Cys745Phe) | |
| 4 | g.6302022_6302044del | CA1435772220 | WFS1 | c.2263_2285del (p.Ser755ArgfsTer8) c.2204_2226del c.2227_2249del (p.Ser743ArgfsTer8) c.1978_2000del (p.Ser660ArgfsTer8) c.1886_1908del (n.1886_1908del) n.2412_2434del c.2236_2258del (p.Ser746ArgfsTer8) | dbSNP |
| 4 | g.6302021C>A | CA356178172 | WFS1 | c.2262C>A (p.Cys754Ter) c.2203C>A c.2226C>A (p.Cys742Ter) c.1977C>A (p.Cys659Ter) c.1885C>A (n.1885C>A) n.2411C>A c.2235C>A (p.Cys745Ter) | |
| 4 | g.6302021C= | CA1435772223 | WFS1 | c.2262C= (p.Cys754=) c.2203C= c.2226C= (p.Cys742=) c.1977C= (p.Cys659=) c.1885C= (n.1885C=) n.2411C= c.2235C= (p.Cys745=) | |
| 4 | g.6302021C>G | CA91796971 | WFS1 | c.2262C>G (p.Cys754Trp) c.2203C>G c.2226C>G (p.Cys742Trp) c.1977C>G (p.Cys659Trp) c.1885C>G (n.1885C>G) n.2411C>G c.2235C>G (p.Cys745Trp) | dbSNP |
| 4 | g.6302021C>T | CA438368744 | WFS1 | c.2262C>T (p.Cys754=) c.2203C>T c.2226C>T (p.Cys742=) c.1977C>T (p.Cys659=) c.1885C>T (n.1885C>T) n.2411C>T c.2235C>T (p.Cys745=) | gnomAD v4 |
| 4 | g.6302022A>C | CA356178173 | WFS1 | c.2263A>C (p.Ser755Arg) c.2204A>C c.2227A>C (p.Ser743Arg) c.1978A>C (p.Ser660Arg) c.1886A>C (n.1886A>C) n.2412A>C c.2236A>C (p.Ser746Arg) | |
| 4 | g.6302022A>G | CA356178174 | WFS1 | c.2263A>G (p.Ser755Gly) c.2204A>G c.2227A>G (p.Ser743Gly) c.1978A>G (p.Ser660Gly) c.1886A>G (n.1886A>G) n.2412A>G c.2236A>G (p.Ser746Gly) | gnomAD v4 |
| 4 | g.6302022A>T | CA356178175 | WFS1 | c.2263A>T (p.Ser755Cys) c.2204A>T c.2227A>T (p.Ser743Cys) c.1978A>T (p.Ser660Cys) c.1886A>T (n.1886A>T) n.2412A>T c.2236A>T (p.Ser746Cys) | |
| 4 | g.6302023G>A | CA356178178 | WFS1 | c.2264G>A (p.Ser755Asn) c.2205G>A c.2228G>A (p.Ser743Asn) c.1979G>A (p.Ser660Asn) c.1887G>A (n.1887G>A) n.2413G>A c.2237G>A (p.Ser746Asn) | |
| 4 | g.6302023G>C | CA356178177 | WFS1 | c.2264G>C (p.Ser755Thr) c.2205G>C c.2228G>C (p.Ser743Thr) c.1979G>C (p.Ser660Thr) c.1887G>C (n.1887G>C) n.2413G>C c.2237G>C (p.Ser746Thr) | |
| 4 | g.6302023G>T | CA356178176 | WFS1 | c.2264G>T (p.Ser755Ile) c.2205G>T c.2228G>T (p.Ser743Ile) c.1979G>T (p.Ser660Ile) c.1887G>T (n.1887G>T) n.2413G>T c.2237G>T (p.Ser746Ile) | |
| 4 | g.6302024C>A | CA356178179 | WFS1 | c.2265C>A (p.Ser755Arg) c.2206C>A c.2229C>A (p.Ser743Arg) c.1980C>A (p.Ser660Arg) c.1888C>A (n.1888C>A) n.2414C>A c.2238C>A (p.Ser746Arg) | |
| 4 | g.6302024C= | CA1435772226 | WFS1 | c.2265C= (p.Ser755=) c.2206C= c.2229C= (p.Ser743=) c.1980C= (p.Ser660=) c.1888C= (n.1888C=) n.2414C= c.2238C= (p.Ser746=) | |
| 4 | g.6302024C>G | CA356178180 | WFS1 | c.2265C>G (p.Ser755Arg) c.2206C>G c.2229C>G (p.Ser743Arg) c.1980C>G (p.Ser660Arg) c.1888C>G (n.1888C>G) n.2414C>G c.2238C>G (p.Ser746Arg) | |
| 4 | g.6302024C>T | CA2839655 | WFS1 | c.2265C>T (p.Ser755=) c.2206C>T c.2229C>T (p.Ser743=) c.1980C>T (p.Ser660=) c.1888C>T (n.1888C>T) n.2414C>T c.2238C>T (p.Ser746=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.6302025C>A | CA356178181 | WFS1 | c.2266C>A (p.Pro756Thr) c.2207C>A c.2230C>A (p.Pro744Thr) c.1981C>A (p.Pro661Thr) c.1889C>A (n.1889C>A) n.2415C>A c.2239C>A (p.Pro747Thr) | |
| 4 | g.6302025C= | CA1435772227 | WFS1 | c.2266C= (p.Pro756=) c.2207C= c.2230C= (p.Pro744=) c.1981C= (p.Pro661=) c.1889C= (n.1889C=) n.2415C= c.2239C= (p.Pro747=) | |
| 4 | g.6302025C>G | CA356178182 | WFS1 | c.2266C>G (p.Pro756Ala) c.2207C>G c.2230C>G (p.Pro744Ala) c.1981C>G (p.Pro661Ala) c.1889C>G (n.1889C>G) n.2415C>G c.2239C>G (p.Pro747Ala) | |
| 4 | g.6302025C>T | CA356178183 | WFS1 | c.2266C>T (p.Pro756Ser) c.2207C>T c.2230C>T (p.Pro744Ser) c.1981C>T (p.Pro661Ser) c.1889C>T (n.1889C>T) n.2415C>T c.2239C>T (p.Pro747Ser) | dbSNP gnomAD v4 |
| 4 | g.6302026C>A | CA356178184 | WFS1 | c.2267C>A (p.Pro756His) c.2208C>A c.2231C>A (p.Pro744His) c.1982C>A (p.Pro661His) c.1890C>A (n.1890C>A) n.2416C>A c.2240C>A (p.Pro747His) | |
| 4 | g.6302026C= | CA1435772230 | WFS1 | c.2267C= (p.Pro756=) c.2208C= c.2231C= (p.Pro744=) c.1982C= (p.Pro661=) c.1890C= (n.1890C=) n.2416C= c.2240C= (p.Pro747=) | |
| 4 | g.6302026C>G | CA356178185 | WFS1 | c.2267C>G (p.Pro756Arg) c.2208C>G c.2231C>G (p.Pro744Arg) c.1982C>G (p.Pro661Arg) c.1890C>G (n.1890C>G) n.2416C>G c.2240C>G (p.Pro747Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302026C>T | CA356178186 | WFS1 | c.2267C>T (p.Pro756Leu) c.2208C>T c.2231C>T (p.Pro744Leu) c.1982C>T (p.Pro661Leu) c.1890C>T (n.1890C>T) n.2416C>T c.2240C>T (p.Pro747Leu) | gnomAD v4 |
| 4 | g.6302027T>A | CA438368750 | WFS1 | c.2268T>A (p.Pro756=) c.2209T>A c.2232T>A (p.Pro744=) c.1983T>A (p.Pro661=) c.1891T>A (n.1891T>A) n.2417T>A c.2241T>A (p.Pro747=) | |
| 4 | g.6302027T>C | CA438368752 | WFS1 | c.2268T>C (p.Pro756=) c.2209T>C c.2232T>C (p.Pro744=) c.1983T>C (p.Pro661=) c.1891T>C (n.1891T>C) n.2417T>C c.2241T>C (p.Pro747=) | |
| 4 | g.6302027T>G | CA2839656 | WFS1 | c.2268T>G (p.Pro756=) c.2209T>G c.2232T>G (p.Pro744=) c.1983T>G (p.Pro661=) c.1891T>G (n.1891T>G) n.2417T>G c.2241T>G (p.Pro747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302027T= | CA1435772233 | WFS1 | c.2268T= (p.Pro756=) c.2209T= c.2232T= (p.Pro744=) c.1983T= (p.Pro661=) c.1891T= (n.1891T=) n.2417T= c.2241T= (p.Pro747=) | |
| 4 | g.6302028G>A | CA325142 | WFS1 | c.2269G>A (p.Gly757Ser) c.2210G>A c.2233G>A (p.Gly745Ser) c.1984G>A (p.Gly662Ser) c.1892G>A (n.1892G>A) n.2418G>A c.2242G>A (p.Gly748Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302028G>C | CA356178187 | WFS1 | c.2269G>C (p.Gly757Arg) c.2210G>C c.2233G>C (p.Gly745Arg) c.1984G>C (p.Gly662Arg) c.1892G>C (n.1892G>C) n.2418G>C c.2242G>C (p.Gly748Arg) | gnomAD v4 |
| 4 | g.6302028G= | CA1435772236 | WFS1 | c.2269G= (p.Gly757=) c.2210G= c.2233G= (p.Gly745=) c.1984G= (p.Gly662=) c.1892G= (n.1892G=) n.2418G= c.2242G= (p.Gly748=) | |
| 4 | g.6302028G>T | CA356178188 | WFS1 | c.2269G>T (p.Gly757Cys) c.2210G>T c.2233G>T (p.Gly745Cys) c.1984G>T (p.Gly662Cys) c.1892G>T (n.1892G>T) n.2418G>T c.2242G>T (p.Gly748Cys) | |
| 4 | g.6302029G>A | CA356178191 | WFS1 | c.2270G>A (p.Gly757Asp) c.2211G>A c.2234G>A (p.Gly745Asp) c.1985G>A (p.Gly662Asp) c.1893G>A (n.1893G>A) n.2419G>A c.2243G>A (p.Gly748Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302029G>C | CA356178189 | WFS1 | c.2270G>C (p.Gly757Ala) c.2211G>C c.2234G>C (p.Gly745Ala) c.1985G>C (p.Gly662Ala) c.1893G>C (n.1893G>C) n.2419G>C c.2243G>C (p.Gly748Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302029G= | CA1435772238 | WFS1 | c.2270G= (p.Gly757=) c.2211G= c.2234G= (p.Gly745=) c.1985G= (p.Gly662=) c.1893G= (n.1893G=) n.2419G= c.2243G= (p.Gly748=) | |
| 4 | g.6302029G>T | CA356178190 | WFS1 | c.2270G>T (p.Gly757Val) c.2211G>T c.2234G>T (p.Gly745Val) c.1985G>T (p.Gly662Val) c.1893G>T (n.1893G>T) n.2419G>T c.2243G>T (p.Gly748Val) |