Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |