Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302066_6302112dup | CA2669843454 | WFS1 | c.2307_2353dup (p.Tyr785LeufsTer?) c.2248_2294dup c.2271_2317dup (p.Tyr773LeufsTer?) c.2022_2068dup (p.Tyr690LeufsTer?) c.1930_1976dup (n.1930_1976dup) n.2456_2502dup c.2280_2326dup (p.Tyr776LeufsTer?) | gnomAD v4 |
4 | g.6302067A>C | CA356178263 | WFS1 | c.2308A>C (p.Lys770Gln) c.2249A>C c.2272A>C (p.Lys758Gln) c.2023A>C (p.Lys675Gln) c.1931A>C (n.1931A>C) n.2457A>C c.2281A>C (p.Lys761Gln) | gnomAD v4 |
4 | g.6302067A>G | CA356178264 | WFS1 | c.2308A>G (p.Lys770Glu) c.2249A>G c.2272A>G (p.Lys758Glu) c.2023A>G (p.Lys675Glu) c.1931A>G (n.1931A>G) n.2457A>G c.2281A>G (p.Lys761Glu) | dbSNP gnomAD v4 |
4 | g.6302067A>T | CA356178265 | WFS1 | c.2308A>T (p.Lys770Ter) c.2249A>T c.2272A>T (p.Lys758Ter) c.2023A>T (p.Lys675Ter) c.1931A>T (n.1931A>T) n.2457A>T c.2281A>T (p.Lys761Ter) | |
4 | g.6302068A= | CA1435772284 | WFS1 | c.2309A= (p.Lys770=) c.2250A= c.2273A= (p.Lys758=) c.2024A= (p.Lys675=) c.1932A= (n.1932A=) n.2458A= c.2282A= (p.Lys761=) | |
4 | g.6302068A>C | CA356178266 | WFS1 | c.2309A>C (p.Lys770Thr) c.2250A>C c.2273A>C (p.Lys758Thr) c.2024A>C (p.Lys675Thr) c.1932A>C (n.1932A>C) n.2458A>C c.2282A>C (p.Lys761Thr) | |
4 | g.6302068A>G | CA356178267 | WFS1 | c.2309A>G (p.Lys770Arg) c.2250A>G c.2273A>G (p.Lys758Arg) c.2024A>G (p.Lys675Arg) c.1932A>G (n.1932A>G) n.2458A>G c.2282A>G (p.Lys761Arg) | ClinVar |
4 | g.6302068A>T | CA356178268 | WFS1 | c.2309A>T (p.Lys770Met) c.2250A>T c.2273A>T (p.Lys758Met) c.2024A>T (p.Lys675Met) c.1932A>T (n.1932A>T) n.2458A>T c.2282A>T (p.Lys761Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6302069G>A | CA438368852 | WFS1 | c.2310G>A (p.Lys770=) c.2251G>A c.2274G>A (p.Lys758=) c.2025G>A (p.Lys675=) c.1933G>A (n.1933G>A) n.2459G>A c.2283G>A (p.Lys761=) | |
4 | g.6302069G>C | CA356178269 | WFS1 | c.2310G>C (p.Lys770Asn) c.2251G>C c.2274G>C (p.Lys758Asn) c.2025G>C (p.Lys675Asn) c.1933G>C (n.1933G>C) n.2459G>C c.2283G>C (p.Lys761Asn) | |
4 | g.6302069G>T | CA356178270 | WFS1 | c.2310G>T (p.Lys770Asn) c.2251G>T c.2274G>T (p.Lys758Asn) c.2025G>T (p.Lys675Asn) c.1933G>T (n.1933G>T) n.2459G>T c.2283G>T (p.Lys761Asn) | |
4 | g.6302070C>A | CA356178271 | WFS1 | c.2311C>A (p.Leu771Met) c.2252C>A c.2275C>A (p.Leu759Met) c.2026C>A (p.Leu676Met) c.1934C>A (n.1934C>A) n.2460C>A c.2284C>A (p.Leu762Met) | |
4 | g.6302070C= | CA1435772285 | WFS1 | c.2311C= (p.Leu771=) c.2252C= c.2275C= (p.Leu759=) c.2026C= (p.Leu676=) c.1934C= (n.1934C=) n.2460C= c.2284C= (p.Leu762=) | |
4 | g.6302070C>G | CA2839667 | WFS1 | c.2311C>G (p.Leu771Val) c.2252C>G c.2275C>G (p.Leu759Val) c.2026C>G (p.Leu676Val) c.1934C>G (n.1934C>G) n.2460C>G c.2284C>G (p.Leu762Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302070C>T | CA438368856 | WFS1 | c.2311C>T (p.Leu771=) c.2252C>T c.2275C>T (p.Leu759=) c.2026C>T (p.Leu676=) c.1934C>T (n.1934C>T) n.2460C>T c.2284C>T (p.Leu762=) | ClinVar |
4 | g.6302071T>A | CA2839668 | WFS1 | c.2312T>A (p.Leu771Gln) c.2253T>A c.2276T>A (p.Leu759Gln) c.2027T>A (p.Leu676Gln) c.1935T>A (n.1935T>A) n.2461T>A c.2285T>A (p.Leu762Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302071T>C | CA356178272 | WFS1 | c.2312T>C (p.Leu771Pro) c.2253T>C c.2276T>C (p.Leu759Pro) c.2027T>C (p.Leu676Pro) c.1935T>C (n.1935T>C) n.2461T>C c.2285T>C (p.Leu762Pro) | |
4 | g.6302071T>G | CA356178273 | WFS1 | c.2312T>G (p.Leu771Arg) c.2253T>G c.2276T>G (p.Leu759Arg) c.2027T>G (p.Leu676Arg) c.1935T>G (n.1935T>G) n.2461T>G c.2285T>G (p.Leu762Arg) | |
4 | g.6302071T= | CA1435772287 | WFS1 | c.2312T= (p.Leu771=) c.2253T= c.2276T= (p.Leu759=) c.2027T= (p.Leu676=) c.1935T= (n.1935T=) n.2461T= c.2285T= (p.Leu762=) | |
4 | g.6302072G>A | CA438368236 | WFS1 | c.2313G>A (p.Leu771=) c.2254G>A c.2277G>A (p.Leu759=) c.2028G>A (p.Leu676=) c.1936G>A (n.1936G>A) n.2462G>A c.2286G>A (p.Leu762=) | dbSNP gnomAD v2 |
4 | g.6302072G>C | CA438368237 | WFS1 | c.2313G>C (p.Leu771=) c.2254G>C c.2277G>C (p.Leu759=) c.2028G>C (p.Leu676=) c.1936G>C (n.1936G>C) n.2462G>C c.2286G>C (p.Leu762=) | gnomAD v4 |
4 | g.6302072G= | CA1435772289 | WFS1 | c.2313G= (p.Leu771=) c.2254G= c.2277G= (p.Leu759=) c.2028G= (p.Leu676=) c.1936G= (n.1936G=) n.2462G= c.2286G= (p.Leu762=) | |
4 | g.6302072G>T | CA438368238 | WFS1 | c.2313G>T (p.Leu771=) c.2254G>T c.2277G>T (p.Leu759=) c.2028G>T (p.Leu676=) c.1936G>T (n.1936G>T) n.2462G>T c.2286G>T (p.Leu762=) | |
4 | g.6302073C>A | CA356178274 | WFS1 | c.2314C>A (p.Leu772Met) c.2255C>A c.2278C>A (p.Leu760Met) c.2029C>A (p.Leu677Met) c.1937C>A (n.1937C>A) n.2463C>A c.2287C>A (p.Leu763Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6302073C= | CA1435772291 | WFS1 | c.2314C= (p.Leu772=) c.2255C= c.2278C= (p.Leu760=) c.2029C= (p.Leu677=) c.1937C= (n.1937C=) n.2463C= c.2287C= (p.Leu763=) | |
4 | g.6302073C>G | CA356178275 | WFS1 | c.2314C>G (p.Leu772Val) c.2255C>G c.2278C>G (p.Leu760Val) c.2029C>G (p.Leu677Val) c.1937C>G (n.1937C>G) n.2463C>G c.2287C>G (p.Leu763Val) | |
4 | g.6302073C>T | CA438368239 | WFS1 | c.2314C>T (p.Leu772=) c.2255C>T c.2278C>T (p.Leu760=) c.2029C>T (p.Leu677=) c.1937C>T (n.1937C>T) n.2463C>T c.2287C>T (p.Leu763=) | gnomAD v4 |
4 | g.6302074T>A | CA356178276 | WFS1 | c.2315T>A (p.Leu772Gln) c.2256T>A c.2279T>A (p.Leu760Gln) c.2030T>A (p.Leu677Gln) c.1938T>A (n.1938T>A) n.2464T>A c.2288T>A (p.Leu763Gln) | |
4 | g.6302074T>C | CA356178277 | WFS1 | c.2315T>C (p.Leu772Pro) c.2256T>C c.2279T>C (p.Leu760Pro) c.2030T>C (p.Leu677Pro) c.1938T>C (n.1938T>C) n.2464T>C c.2288T>C (p.Leu763Pro) | gnomAD v4 |
4 | g.6302074T>G | CA356178278 | WFS1 | c.2315T>G (p.Leu772Arg) c.2256T>G c.2279T>G (p.Leu760Arg) c.2030T>G (p.Leu677Arg) c.1938T>G (n.1938T>G) n.2464T>G c.2288T>G (p.Leu763Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302074T= | CA1435772293 | WFS1 | c.2315T= (p.Leu772=) c.2256T= c.2279T= (p.Leu760=) c.2030T= (p.Leu677=) c.1938T= (n.1938T=) n.2464T= c.2288T= (p.Leu763=) | |
4 | g.6302075G>A | CA2839669 | WFS1 | c.2316G>A (p.Leu772=) c.2257G>A c.2280G>A (p.Leu760=) c.2031G>A (p.Leu677=) c.1939G>A (n.1939G>A) n.2465G>A c.2289G>A (p.Leu763=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302075G>C | CA438368240 | WFS1 | c.2316G>C (p.Leu772=) c.2257G>C c.2280G>C (p.Leu760=) c.2031G>C (p.Leu677=) c.1939G>C (n.1939G>C) n.2465G>C c.2289G>C (p.Leu763=) | dbSNP |
4 | g.6302075G= | CA1435772294 | WFS1 | c.2316G= (p.Leu772=) c.2257G= c.2280G= (p.Leu760=) c.2031G= (p.Leu677=) c.1939G= (n.1939G=) n.2465G= c.2289G= (p.Leu763=) | |
4 | g.6302075G>T | CA438368241 | WFS1 | c.2316G>T (p.Leu772=) c.2257G>T c.2280G>T (p.Leu760=) c.2031G>T (p.Leu677=) c.1939G>T (n.1939G>T) n.2465G>T c.2289G>T (p.Leu763=) | gnomAD v4 |
4 | g.6302076G>A | CA356178279 | WFS1 | c.2317G>A (p.Ala773Thr) c.2258G>A c.2281G>A (p.Ala761Thr) c.2032G>A (p.Ala678Thr) c.1940G>A (n.1940G>A) n.2466G>A c.2290G>A (p.Ala764Thr) | gnomAD v4 |
4 | g.6302076G>C | CA356178280 | WFS1 | c.2317G>C (p.Ala773Pro) c.2258G>C c.2281G>C (p.Ala761Pro) c.2032G>C (p.Ala678Pro) c.1940G>C (n.1940G>C) n.2466G>C c.2290G>C (p.Ala764Pro) | |
4 | g.6302076G>T | CA356178281 | WFS1 | c.2317G>T (p.Ala773Ser) c.2258G>T c.2281G>T (p.Ala761Ser) c.2032G>T (p.Ala678Ser) c.1940G>T (n.1940G>T) n.2466G>T c.2290G>T (p.Ala764Ser) | |
4 | g.6302077C>A | CA356178283 | WFS1 | c.2318C>A (p.Ala773Asp) c.2259C>A c.2282C>A (p.Ala761Asp) c.2033C>A (p.Ala678Asp) c.1941C>A (n.1941C>A) n.2467C>A c.2291C>A (p.Ala764Asp) | |
4 | g.6302077C= | CA1435772295 | WFS1 | c.2318C= (p.Ala773=) c.2259C= c.2282C= (p.Ala761=) c.2033C= (p.Ala678=) c.1941C= (n.1941C=) n.2467C= c.2291C= (p.Ala764=) | |
4 | g.6302077C>G | CA356178282 | WFS1 | c.2318C>G (p.Ala773Gly) c.2259C>G c.2282C>G (p.Ala761Gly) c.2033C>G (p.Ala678Gly) c.1941C>G (n.1941C>G) n.2467C>G c.2291C>G (p.Ala764Gly) | |
4 | g.6302077C>T | CA91797005 | WFS1 | c.2318C>T (p.Ala773Val) c.2259C>T c.2282C>T (p.Ala761Val) c.2033C>T (p.Ala678Val) c.1941C>T (n.1941C>T) n.2467C>T c.2291C>T (p.Ala764Val) | ClinVar dbSNP gnomAD v4 |
4 | g.6302078C>A | CA438368242 | WFS1 | c.2319C>A (p.Ala773=) c.2260C>A c.2283C>A (p.Ala761=) c.2034C>A (p.Ala678=) c.1942C>A (n.1942C>A) n.2468C>A c.2292C>A (p.Ala764=) | |
4 | g.6302078C= | CA1435772296 | WFS1 | c.2319C= (p.Ala773=) c.2260C= c.2283C= (p.Ala761=) c.2034C= (p.Ala678=) c.1942C= (n.1942C=) n.2468C= c.2292C= (p.Ala764=) | |
4 | g.6302078C>G | CA438368243 | WFS1 | c.2319C>G (p.Ala773=) c.2260C>G c.2283C>G (p.Ala761=) c.2034C>G (p.Ala678=) c.1942C>G (n.1942C>G) n.2468C>G c.2292C>G (p.Ala764=) | gnomAD v4 |
4 | g.6302078C>T | CA2839670 | WFS1 | c.2319C>T (p.Ala773=) c.2260C>T c.2283C>T (p.Ala761=) c.2034C>T (p.Ala678=) c.1942C>T (n.1942C>T) n.2468C>T c.2292C>T (p.Ala764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302079A= | CA1435772298 | WFS1 | c.2320A= (p.Lys774=) c.2261A= c.2284A= (p.Lys762=) c.2035A= (p.Lys679=) c.1943A= (n.1943A=) n.2469A= c.2293A= (p.Lys765=) | |
4 | g.6302079A>C | CA356178284 | WFS1 | c.2320A>C (p.Lys774Gln) c.2261A>C c.2284A>C (p.Lys762Gln) c.2035A>C (p.Lys679Gln) c.1943A>C (n.1943A>C) n.2469A>C c.2293A>C (p.Lys765Gln) | |
4 | g.6302079A>G | CA2839671 | WFS1 | c.2320A>G (p.Lys774Glu) c.2261A>G c.2284A>G (p.Lys762Glu) c.2035A>G (p.Lys679Glu) c.1943A>G (n.1943A>G) n.2469A>G c.2293A>G (p.Lys765Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302079A>T | CA356178285 | WFS1 | c.2320A>T (p.Lys774Ter) c.2261A>T c.2284A>T (p.Lys762Ter) c.2035A>T (p.Lys679Ter) c.1943A>T (n.1943A>T) n.2469A>T c.2293A>T (p.Lys765Ter) | |
4 | g.6302080A= | CA1435772301 | WFS1 | c.2321A= (p.Lys774=) c.2262A= c.2285A= (p.Lys762=) c.2036A= (p.Lys679=) c.1944A= (n.1944A=) n.2470A= c.2294A= (p.Lys765=) | |
4 | g.6302080A>C | CA356178286 | WFS1 | c.2321A>C (p.Lys774Thr) c.2262A>C c.2285A>C (p.Lys762Thr) c.2036A>C (p.Lys679Thr) c.1944A>C (n.1944A>C) n.2470A>C c.2294A>C (p.Lys765Thr) | |
4 | g.6302080A>G | CA10576640 | WFS1 | c.2321A>G (p.Lys774Arg) c.2262A>G c.2285A>G (p.Lys762Arg) c.2036A>G (p.Lys679Arg) c.1944A>G (n.1944A>G) n.2470A>G c.2294A>G (p.Lys765Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302080A>T | CA356178287 | WFS1 | c.2321A>T (p.Lys774Met) c.2262A>T c.2285A>T (p.Lys762Met) c.2036A>T (p.Lys679Met) c.1944A>T (n.1944A>T) n.2470A>T c.2294A>T (p.Lys765Met) | |
4 | g.6302081G>A | CA2839672 | WFS1 | c.2322G>A (p.Lys774=) c.2263G>A c.2286G>A (p.Lys762=) c.2037G>A (p.Lys679=) c.1945G>A (n.1945G>A) n.2471G>A c.2295G>A (p.Lys765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302081G>C | CA356178288 | WFS1 | c.2322G>C (p.Lys774Asn) c.2263G>C c.2286G>C (p.Lys762Asn) c.2037G>C (p.Lys679Asn) c.1945G>C (n.1945G>C) n.2471G>C c.2295G>C (p.Lys765Asn) | |
4 | g.6302081G= | CA1435772303 | WFS1 | c.2322G= (p.Lys774=) c.2263G= c.2286G= (p.Lys762=) c.2037G= (p.Lys679=) c.1945G= (n.1945G=) n.2471G= c.2295G= (p.Lys765=) | |
4 | g.6302081G>T | CA356178289 | WFS1 | c.2322G>T (p.Lys774Asn) c.2263G>T c.2286G>T (p.Lys762Asn) c.2037G>T (p.Lys679Asn) c.1945G>T (n.1945G>T) n.2471G>T c.2295G>T (p.Lys765Asn) | dbSNP |
4 | g.6302082C>A | CA356178290 | WFS1 | c.2323C>A (p.His775Asn) c.2264C>A c.2287C>A (p.His763Asn) c.2038C>A (p.His680Asn) c.1946C>A (n.1946C>A) n.2472C>A c.2296C>A (p.His766Asn) | |
4 | g.6302082C= | CA1435772305 | WFS1 | c.2323C= (p.His775=) c.2264C= c.2287C= (p.His763=) c.2038C= (p.His680=) c.1946C= (n.1946C=) n.2472C= c.2296C= (p.His766=) | |
4 | g.6302082C>G | CA356178291 | WFS1 | c.2323C>G (p.His775Asp) c.2264C>G c.2287C>G (p.His763Asp) c.2038C>G (p.His680Asp) c.1946C>G (n.1946C>G) n.2472C>G c.2296C>G (p.His766Asp) | |
4 | g.6302082C>T | CA2839673 | WFS1 | c.2323C>T (p.His775Tyr) c.2264C>T c.2287C>T (p.His763Tyr) c.2038C>T (p.His680Tyr) c.1946C>T (n.1946C>T) n.2472C>T c.2296C>T (p.His766Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302083A= | CA1435772306 | WFS1 | c.2324A= (p.His775=) c.2265A= c.2288A= (p.His763=) c.2039A= (p.His680=) c.1947A= (n.1947A=) n.2473A= c.2297A= (p.His766=) | |
4 | g.6302083A>C | CA2839674 | WFS1 | c.2324A>C (p.His775Pro) c.2265A>C c.2288A>C (p.His763Pro) c.2039A>C (p.His680Pro) c.1947A>C (n.1947A>C) n.2473A>C c.2297A>C (p.His766Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302083A>G | CA356178293 | WFS1 | c.2324A>G (p.His775Arg) c.2265A>G c.2288A>G (p.His763Arg) c.2039A>G (p.His680Arg) c.1947A>G (n.1947A>G) n.2473A>G c.2297A>G (p.His766Arg) | ClinVar gnomAD v4 |
4 | g.6302083A>T | CA356178292 | WFS1 | c.2324A>T (p.His775Leu) c.2265A>T c.2288A>T (p.His763Leu) c.2039A>T (p.His680Leu) c.1947A>T (n.1947A>T) n.2473A>T c.2297A>T (p.His766Leu) | |
4 | g.6302084C>A | CA2839675 | WFS1 | c.2325C>A (p.His775Gln) c.2266C>A c.2289C>A (p.His763Gln) c.2040C>A (p.His680Gln) c.1948C>A (n.1948C>A) n.2474C>A c.2298C>A (p.His766Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302084C= | CA1435772308 | WFS1 | c.2325C= (p.His775=) c.2266C= c.2289C= (p.His763=) c.2040C= (p.His680=) c.1948C= (n.1948C=) n.2474C= c.2298C= (p.His766=) | |
4 | g.6302084C>G | CA356178294 | WFS1 | c.2325C>G (p.His775Gln) c.2266C>G c.2289C>G (p.His763Gln) c.2040C>G (p.His680Gln) c.1948C>G (n.1948C>G) n.2474C>G c.2298C>G (p.His766Gln) | |
4 | g.6302084C>T | CA438368244 | WFS1 | c.2325C>T (p.His775=) c.2266C>T c.2289C>T (p.His763=) c.2040C>T (p.His680=) c.1948C>T (n.1948C>T) n.2474C>T c.2298C>T (p.His766=) | gnomAD v4 |
4 | g.6302085C>A | CA356178295 | WFS1 | c.2326C>A (p.Pro776Thr) c.2267C>A c.2290C>A (p.Pro764Thr) c.2041C>A (p.Pro681Thr) c.1949C>A (n.1949C>A) n.2475C>A c.2299C>A (p.Pro767Thr) | |
4 | g.6302085C= | CA1435772310 | WFS1 | c.2326C= (p.Pro776=) c.2267C= c.2290C= (p.Pro764=) c.2041C= (p.Pro681=) c.1949C= (n.1949C=) n.2475C= c.2299C= (p.Pro767=) | |
4 | g.6302085C>G | CA2839676 | WFS1 | c.2326C>G (p.Pro776Ala) c.2267C>G c.2290C>G (p.Pro764Ala) c.2041C>G (p.Pro681Ala) c.1949C>G (n.1949C>G) n.2475C>G c.2299C>G (p.Pro767Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302085C>T | CA91797019 | WFS1 | c.2326C>T (p.Pro776Ser) c.2267C>T c.2290C>T (p.Pro764Ser) c.2041C>T (p.Pro681Ser) c.1949C>T (n.1949C>T) n.2475C>T c.2299C>T (p.Pro767Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302086C>A | CA356178296 | WFS1 | c.2327C>A (p.Pro776His) c.2268C>A c.2291C>A (p.Pro764His) c.2042C>A (p.Pro681His) c.1950C>A (n.1950C>A) n.2476C>A c.2300C>A (p.Pro767His) | |
4 | g.6302086C>G | CA356178297 | WFS1 | c.2327C>G (p.Pro776Arg) c.2268C>G c.2291C>G (p.Pro764Arg) c.2042C>G (p.Pro681Arg) c.1950C>G (n.1950C>G) n.2476C>G c.2300C>G (p.Pro767Arg) | |
4 | g.6302086C>T | CA356178298 | WFS1 | c.2327C>T (p.Pro776Leu) c.2268C>T c.2291C>T (p.Pro764Leu) c.2042C>T (p.Pro681Leu) c.1950C>T (n.1950C>T) n.2476C>T c.2300C>T (p.Pro767Leu) | |
4 | g.6302087C>A | CA438368245 | WFS1 | c.2328C>A (p.Pro776=) c.2269C>A c.2292C>A (p.Pro764=) c.2043C>A (p.Pro681=) c.1951C>A (n.1951C>A) n.2477C>A c.2301C>A (p.Pro767=) | gnomAD v4 |
4 | g.6302087C= | CA1435772313 | WFS1 | c.2328C= (p.Pro776=) c.2269C= c.2292C= (p.Pro764=) c.2043C= (p.Pro681=) c.1951C= (n.1951C=) n.2477C= c.2301C= (p.Pro767=) | |
4 | g.6302087C>G | CA438368246 | WFS1 | c.2328C>G (p.Pro776=) c.2269C>G c.2292C>G (p.Pro764=) c.2043C>G (p.Pro681=) c.1951C>G (n.1951C>G) n.2477C>G c.2301C>G (p.Pro767=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302087C>T | CA438368247 | WFS1 | c.2328C>T (p.Pro776=) c.2269C>T c.2292C>T (p.Pro764=) c.2043C>T (p.Pro681=) c.1951C>T (n.1951C>T) n.2477C>T c.2301C>T (p.Pro767=) | |
4 | g.6302087_6302088delinsCT | CA1435772314 | WFS1 | c.2328_2329delinsCT (p.Pro776=) c.2269_2270delinsCT c.2292_2293delinsCT (p.Pro764=) c.2043_2044delinsCT (p.Pro681=) c.1951_1952delinsCT (n.1951_1952delinsCT) n.2477_2478delinsCT c.2301_2302delinsCT (p.Pro767=) | |
4 | g.6302088del | CA549707919 | WFS1 | c.2329del (p.Cys777AlafsTer?) c.2270del c.2293del (p.Cys765AlafsTer?) c.2044del (p.Cys682AlafsTer?) c.1952del (n.1952del) n.2478del c.2302del (p.Cys768AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302088T>A | CA356178299 | WFS1 | c.2329T>A (p.Cys777Ser) c.2270T>A c.2293T>A (p.Cys765Ser) c.2044T>A (p.Cys682Ser) c.1952T>A (n.1952T>A) n.2478T>A c.2302T>A (p.Cys768Ser) | |
4 | g.6302088T>C | CA179671 | WFS1 | c.2329T>C (p.Cys777Arg) c.2270T>C c.2293T>C (p.Cys765Arg) c.2044T>C (p.Cys682Arg) c.1952T>C (n.1952T>C) n.2478T>C c.2302T>C (p.Cys768Arg) | ClinVar dbSNP gnomAD v4 |
4 | g.6302088T>G | CA356178300 | WFS1 | c.2329T>G (p.Cys777Gly) c.2270T>G c.2293T>G (p.Cys765Gly) c.2044T>G (p.Cys682Gly) c.1952T>G (n.1952T>G) n.2478T>G c.2302T>G (p.Cys768Gly) | |
4 | g.6302088T= | CA1435772317 | WFS1 | c.2329T= (p.Cys777=) c.2270T= c.2293T= (p.Cys765=) c.2044T= (p.Cys682=) c.1952T= (n.1952T=) n.2478T= c.2302T= (p.Cys768=) | |
4 | g.6302089G>A | CA2839677 | WFS1 | c.2330G>A (p.Cys777Tyr) c.2271G>A c.2294G>A (p.Cys765Tyr) c.2045G>A (p.Cys682Tyr) c.1953G>A (n.1953G>A) n.2479G>A c.2303G>A (p.Cys768Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302089G>C | CA356178301 | WFS1 | c.2330G>C (p.Cys777Ser) c.2271G>C c.2294G>C (p.Cys765Ser) c.2045G>C (p.Cys682Ser) c.1953G>C (n.1953G>C) n.2479G>C c.2303G>C (p.Cys768Ser) | |
4 | g.6302089G= | CA1435772318 | WFS1 | c.2330G= (p.Cys777=) c.2271G= c.2294G= (p.Cys765=) c.2045G= (p.Cys682=) c.1953G= (n.1953G=) n.2479G= c.2303G= (p.Cys768=) | |
4 | g.6302089G>T | CA356178302 | WFS1 | c.2330G>T (p.Cys777Phe) c.2271G>T c.2294G>T (p.Cys765Phe) c.2045G>T (p.Cys682Phe) c.1953G>T (n.1953G>T) n.2479G>T c.2303G>T (p.Cys768Phe) | |
4 | g.6302090C>A | CA356178303 | WFS1 | c.2331C>A (p.Cys777Ter) c.2272C>A c.2295C>A (p.Cys765Ter) c.2046C>A (p.Cys682Ter) c.1954C>A (n.1954C>A) n.2480C>A c.2304C>A (p.Cys768Ter) | |
4 | g.6302090C>G | CA356178304 | WFS1 | c.2331C>G (p.Cys777Trp) c.2272C>G c.2295C>G (p.Cys765Trp) c.2046C>G (p.Cys682Trp) c.1954C>G (n.1954C>G) n.2480C>G c.2304C>G (p.Cys768Trp) | |
4 | g.6302090C>T | CA438368248 | WFS1 | c.2331C>T (p.Cys777=) c.2272C>T c.2295C>T (p.Cys765=) c.2046C>T (p.Cys682=) c.1954C>T (n.1954C>T) n.2480C>T c.2304C>T (p.Cys768=) | gnomAD v4 |
4 | g.6302091C>A | CA356178307 | WFS1 | c.2332C>A (p.His778Asn) c.2273C>A c.2296C>A (p.His766Asn) c.2047C>A (p.His683Asn) c.1955C>A (n.1955C>A) n.2481C>A c.2305C>A (p.His769Asn) | |
4 | g.6302091C= | CA1435772320 | WFS1 | c.2332C= (p.His778=) c.2273C= c.2296C= (p.His766=) c.2047C= (p.His683=) c.1955C= (n.1955C=) n.2481C= c.2305C= (p.His769=) | |
4 | g.6302091C>G | CA356178306 | WFS1 | c.2332C>G (p.His778Asp) c.2273C>G c.2296C>G (p.His766Asp) c.2047C>G (p.His683Asp) c.1955C>G (n.1955C>G) n.2481C>G c.2305C>G (p.His769Asp) | ClinVar dbSNP |
4 | g.6302091C>T | CA356178305 | WFS1 | c.2332C>T (p.His778Tyr) c.2273C>T c.2296C>T (p.His766Tyr) c.2047C>T (p.His683Tyr) c.1955C>T (n.1955C>T) n.2481C>T c.2305C>T (p.His769Tyr) | ClinVar dbSNP gnomAD v4 |
4 | g.6302092A>C | CA356178308 | WFS1 | c.2333A>C (p.His778Pro) c.2274A>C c.2297A>C (p.His766Pro) c.2048A>C (p.His683Pro) c.1956A>C (n.1956A>C) n.2482A>C c.2306A>C (p.His769Pro) | |
4 | g.6302092A>G | CA356178309 | WFS1 | c.2333A>G (p.His778Arg) c.2274A>G c.2297A>G (p.His766Arg) c.2048A>G (p.His683Arg) c.1956A>G (n.1956A>G) n.2482A>G c.2306A>G (p.His769Arg) | gnomAD v4 |
4 | g.6302092A>T | CA356178310 | WFS1 | c.2333A>T (p.His778Leu) c.2274A>T c.2297A>T (p.His766Leu) c.2048A>T (p.His683Leu) c.1956A>T (n.1956A>T) n.2482A>T c.2306A>T (p.His769Leu) | |
4 | g.6302093C>A | CA10619009 | WFS1 | c.2334C>A (p.His778Gln) c.2275C>A c.2298C>A (p.His766Gln) c.2049C>A (p.His683Gln) c.1957C>A (n.1957C>A) n.2483C>A c.2307C>A (p.His769Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302093C= | CA1435772322 | WFS1 | c.2334C= (p.His778=) c.2275C= c.2298C= (p.His766=) c.2049C= (p.His683=) c.1957C= (n.1957C=) n.2483C= c.2307C= (p.His769=) | |
4 | g.6302093C>G | CA356178311 | WFS1 | c.2334C>G (p.His778Gln) c.2275C>G c.2298C>G (p.His766Gln) c.2049C>G (p.His683Gln) c.1957C>G (n.1957C>G) n.2483C>G c.2307C>G (p.His769Gln) | |
4 | g.6302093C>T | CA2839678 | WFS1 | c.2334C>T (p.His778=) c.2275C>T c.2298C>T (p.His766=) c.2049C>T (p.His683=) c.1957C>T (n.1957C>T) n.2483C>T c.2307C>T (p.His769=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302095_6302097del | CA2580617579 | WFS1 | c.2336_2338del (p.Ile779del) c.2277_2279del c.2300_2302del (p.Ile767del) c.2051_2053del (p.Ile684del) c.1959_1961del (n.1959_1961del) n.2485_2487del c.2309_2311del (p.Ile770del) | |
4 | g.6302094A= | CA1435772325 | WFS1 | c.2335A= (p.Ile779=) c.2276A= c.2299A= (p.Ile767=) c.2050A= (p.Ile684=) c.1958A= (n.1958A=) n.2484A= c.2308A= (p.Ile770=) | |
4 | g.6302094A>C | CA2839679 | WFS1 | c.2335A>C (p.Ile779Leu) c.2276A>C c.2299A>C (p.Ile767Leu) c.2050A>C (p.Ile684Leu) c.1958A>C (n.1958A>C) n.2484A>C c.2308A>C (p.Ile770Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302094A>G | CA356178312 | WFS1 | c.2335A>G (p.Ile779Val) c.2276A>G c.2299A>G (p.Ile767Val) c.2050A>G (p.Ile684Val) c.1958A>G (n.1958A>G) n.2484A>G c.2308A>G (p.Ile770Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302094A>T | CA356178313 | WFS1 | c.2335A>T (p.Ile779Phe) c.2276A>T c.2299A>T (p.Ile767Phe) c.2050A>T (p.Ile684Phe) c.1958A>T (n.1958A>T) n.2484A>T c.2308A>T (p.Ile770Phe) | gnomAD v4 |
4 | g.6302095T>A | CA356178314 | WFS1 | c.2336T>A (p.Ile779Asn) c.2277T>A c.2300T>A (p.Ile767Asn) c.2051T>A (p.Ile684Asn) c.1959T>A (n.1959T>A) n.2485T>A c.2309T>A (p.Ile770Asn) | |
4 | g.6302095T>C | CA356178315 | WFS1 | c.2336T>C (p.Ile779Thr) c.2277T>C c.2300T>C (p.Ile767Thr) c.2051T>C (p.Ile684Thr) c.1959T>C (n.1959T>C) n.2485T>C c.2309T>C (p.Ile770Thr) | gnomAD v4 |
4 | g.6302095T>G | CA356178316 | WFS1 | c.2336T>G (p.Ile779Ser) c.2277T>G c.2300T>G (p.Ile767Ser) c.2051T>G (p.Ile684Ser) c.1959T>G (n.1959T>G) n.2485T>G c.2309T>G (p.Ile770Ser) | |
4 | g.6302096C>A | CA91797029 | WFS1 | c.2337C>A (p.Ile779=) c.2278C>A c.2301C>A (p.Ile767=) c.2052C>A (p.Ile684=) c.1960C>A (n.1960C>A) n.2486C>A c.2310C>A (p.Ile770=) | dbSNP |
4 | g.6302096C= | CA1435772328 | WFS1 | c.2337C= (p.Ile779=) c.2278C= c.2301C= (p.Ile767=) c.2052C= (p.Ile684=) c.1960C= (n.1960C=) n.2486C= c.2310C= (p.Ile770=) | |
4 | g.6302096C>G | CA356178317 | WFS1 | c.2337C>G (p.Ile779Met) c.2278C>G c.2301C>G (p.Ile767Met) c.2052C>G (p.Ile684Met) c.1960C>G (n.1960C>G) n.2486C>G c.2310C>G (p.Ile770Met) | gnomAD v4 |
4 | g.6302096C>T | CA438368249 | WFS1 | c.2337C>T (p.Ile779=) c.2278C>T c.2301C>T (p.Ile767=) c.2052C>T (p.Ile684=) c.1960C>T (n.1960C>T) n.2486C>T c.2310C>T (p.Ile770=) | dbSNP |
4 | g.6302097A>C | CA356178318 | WFS1 | c.2338A>C (p.Lys780Gln) c.2279A>C c.2302A>C (p.Lys768Gln) c.2053A>C (p.Lys685Gln) c.1961A>C (n.1961A>C) n.2487A>C c.2311A>C (p.Lys771Gln) | gnomAD v4 |
4 | g.6302097A>G | CA356178319 | WFS1 | c.2338A>G (p.Lys780Glu) c.2279A>G c.2302A>G (p.Lys768Glu) c.2053A>G (p.Lys685Glu) c.1961A>G (n.1961A>G) n.2487A>G c.2311A>G (p.Lys771Glu) | |
4 | g.6302097A>T | CA356178320 | WFS1 | c.2338A>T (p.Lys780Ter) c.2279A>T c.2302A>T (p.Lys768Ter) c.2053A>T (p.Lys685Ter) c.1961A>T (n.1961A>T) n.2487A>T c.2311A>T (p.Lys771Ter) | |
4 | g.6302100_6302102del | CA2669843458 | WFS1 | c.2341_2343del (p.Lys781del) c.2282_2284del c.2305_2307del (p.Lys769del) c.2056_2058del (p.Lys686del) c.1964_1966del (n.1964_1966del) n.2490_2492del c.2314_2316del (p.Lys772del) | gnomAD v4 |
4 | g.6302098A= | CA1435772329 | WFS1 | c.2339A= (p.Lys780=) c.2280A= c.2303A= (p.Lys768=) c.2054A= (p.Lys685=) c.1962A= (n.1962A=) n.2488A= c.2312A= (p.Lys771=) | |
4 | g.6302098A>C | CA356178321 | WFS1 | c.2339A>C (p.Lys780Thr) c.2280A>C c.2303A>C (p.Lys768Thr) c.2054A>C (p.Lys685Thr) c.1962A>C (n.1962A>C) n.2488A>C c.2312A>C (p.Lys771Thr) | |
4 | g.6302098A>G | CA356178322 | WFS1 | c.2339A>G (p.Lys780Arg) c.2280A>G c.2303A>G (p.Lys768Arg) c.2054A>G (p.Lys685Arg) c.1962A>G (n.1962A>G) n.2488A>G c.2312A>G (p.Lys771Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302098A>T | CA356178323 | WFS1 | c.2339A>T (p.Lys780Met) c.2280A>T c.2303A>T (p.Lys768Met) c.2054A>T (p.Lys685Met) c.1962A>T (n.1962A>T) n.2488A>T c.2312A>T (p.Lys771Met) | |
4 | g.6302099G>A | CA438368250 | WFS1 | c.2340G>A (p.Lys780=) c.2281G>A c.2304G>A (p.Lys768=) c.2055G>A (p.Lys685=) c.1963G>A (n.1963G>A) n.2489G>A c.2313G>A (p.Lys771=) | |
4 | g.6302099G>C | CA356178324 | WFS1 | c.2340G>C (p.Lys780Asn) c.2281G>C c.2304G>C (p.Lys768Asn) c.2055G>C (p.Lys685Asn) c.1963G>C (n.1963G>C) n.2489G>C c.2313G>C (p.Lys771Asn) | |
4 | g.6302099G>T | CA356178325 | WFS1 | c.2340G>T (p.Lys780Asn) c.2281G>T c.2304G>T (p.Lys768Asn) c.2055G>T (p.Lys685Asn) c.1963G>T (n.1963G>T) n.2489G>T c.2313G>T (p.Lys771Asn) | |
4 | g.6302100A>C | CA356178326 | WFS1 | c.2341A>C (p.Lys781Gln) c.2282A>C c.2305A>C (p.Lys769Gln) c.2056A>C (p.Lys686Gln) c.1964A>C (n.1964A>C) n.2490A>C c.2314A>C (p.Lys772Gln) | |
4 | g.6302100A>G | CA356178327 | WFS1 | c.2341A>G (p.Lys781Glu) c.2282A>G c.2305A>G (p.Lys769Glu) c.2056A>G (p.Lys686Glu) c.1964A>G (n.1964A>G) n.2490A>G c.2314A>G (p.Lys772Glu) | |
4 | g.6302100A>T | CA356178328 | WFS1 | c.2341A>T (p.Lys781Ter) c.2282A>T c.2305A>T (p.Lys769Ter) c.2056A>T (p.Lys686Ter) c.1964A>T (n.1964A>T) n.2490A>T c.2314A>T (p.Lys772Ter) | |
4 | g.6302101A= | CA1435772331 | WFS1 | c.2342A= (p.Lys781=) c.2283A= c.2306A= (p.Lys769=) c.2057A= (p.Lys686=) c.1965A= (n.1965A=) n.2491A= c.2315A= (p.Lys772=) | |
4 | g.6302101A>C | CA356178329 | WFS1 | c.2342A>C (p.Lys781Thr) c.2283A>C c.2306A>C (p.Lys769Thr) c.2057A>C (p.Lys686Thr) c.1965A>C (n.1965A>C) n.2491A>C c.2315A>C (p.Lys772Thr) | |
4 | g.6302101A>G | CA356178330 | WFS1 | c.2342A>G (p.Lys781Arg) c.2283A>G c.2306A>G (p.Lys769Arg) c.2057A>G (p.Lys686Arg) c.1965A>G (n.1965A>G) n.2491A>G c.2315A>G (p.Lys772Arg) | dbSNP gnomAD v4 |
4 | g.6302101A>T | CA356178331 | WFS1 | c.2342A>T (p.Lys781Met) c.2283A>T c.2306A>T (p.Lys769Met) c.2057A>T (p.Lys686Met) c.1965A>T (n.1965A>T) n.2491A>T c.2315A>T (p.Lys772Met) | |
4 | g.6302102G>A | CA438368251 | WFS1 | c.2343G>A (p.Lys781=) c.2284G>A c.2307G>A (p.Lys769=) c.2058G>A (p.Lys686=) c.1966G>A (n.1966G>A) n.2492G>A c.2316G>A (p.Lys772=) | gnomAD v4 |
4 | g.6302102G>C | CA356178332 | WFS1 | c.2343G>C (p.Lys781Asn) c.2284G>C c.2307G>C (p.Lys769Asn) c.2058G>C (p.Lys686Asn) c.1966G>C (n.1966G>C) n.2492G>C c.2316G>C (p.Lys772Asn) | gnomAD v4 |
4 | g.6302102G>T | CA356178333 | WFS1 | c.2343G>T (p.Lys781Asn) c.2284G>T c.2307G>T (p.Lys769Asn) c.2058G>T (p.Lys686Asn) c.1966G>T (n.1966G>T) n.2492G>T c.2316G>T (p.Lys772Asn) | |
4 | g.6302103T>A | CA356178334 | WFS1 | c.2344T>A (p.Phe782Ile) c.2285T>A c.2308T>A (p.Phe770Ile) c.2059T>A (p.Phe687Ile) c.1967T>A (n.1967T>A) n.2493T>A c.2317T>A (p.Phe773Ile) | |
4 | g.6302103T>C | CA356178335 | WFS1 | c.2344T>C (p.Phe782Leu) c.2285T>C c.2308T>C (p.Phe770Leu) c.2059T>C (p.Phe687Leu) c.1967T>C (n.1967T>C) n.2493T>C c.2317T>C (p.Phe773Leu) | |
4 | g.6302103T>G | CA356178336 | WFS1 | c.2344T>G (p.Phe782Val) c.2285T>G c.2308T>G (p.Phe770Val) c.2059T>G (p.Phe687Val) c.1967T>G (n.1967T>G) n.2493T>G c.2317T>G (p.Phe773Val) | |
4 | g.6302104T>A | CA356178337 | WFS1 | c.2345T>A (p.Phe782Tyr) c.2286T>A c.2309T>A (p.Phe770Tyr) c.2060T>A (p.Phe687Tyr) c.1968T>A (n.1968T>A) n.2494T>A c.2318T>A (p.Phe773Tyr) | |
4 | g.6302104T>C | CA356178338 | WFS1 | c.2345T>C (p.Phe782Ser) c.2286T>C c.2309T>C (p.Phe770Ser) c.2060T>C (p.Phe687Ser) c.1968T>C (n.1968T>C) n.2494T>C c.2318T>C (p.Phe773Ser) | |
4 | g.6302104T>G | CA356178339 | WFS1 | c.2345T>G (p.Phe782Cys) c.2286T>G c.2309T>G (p.Phe770Cys) c.2060T>G (p.Phe687Cys) c.1968T>G (n.1968T>G) n.2494T>G c.2318T>G (p.Phe773Cys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302104T= | CA1435772332 | WFS1 | c.2345T= (p.Phe782=) c.2286T= c.2309T= (p.Phe770=) c.2060T= (p.Phe687=) c.1968T= (n.1968T=) n.2494T= c.2318T= (p.Phe773=) | |
4 | g.6302105C>A | CA356178340 | WFS1 | c.2346C>A (p.Phe782Leu) c.2287C>A c.2310C>A (p.Phe770Leu) c.2061C>A (p.Phe687Leu) c.1969C>A (n.1969C>A) n.2495C>A c.2319C>A (p.Phe773Leu) | gnomAD v4 |
4 | g.6302105C= | CA1435772334 | WFS1 | c.2346C= (p.Phe782=) c.2287C= c.2310C= (p.Phe770=) c.2061C= (p.Phe687=) c.1969C= (n.1969C=) n.2495C= c.2319C= (p.Phe773=) | |
4 | g.6302105C>G | CA356178341 | WFS1 | c.2346C>G (p.Phe782Leu) c.2287C>G c.2310C>G (p.Phe770Leu) c.2061C>G (p.Phe687Leu) c.1969C>G (n.1969C>G) n.2495C>G c.2319C>G (p.Phe773Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302105C>T | CA2839680 | WFS1 | c.2346C>T (p.Phe782=) c.2287C>T c.2310C>T (p.Phe770=) c.2061C>T (p.Phe687=) c.1969C>T (n.1969C>T) n.2495C>T c.2319C>T (p.Phe773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302106G>A | CA2839681 | WFS1 | c.2347G>A (p.Asp783Asn) c.2288G>A c.2311G>A (p.Asp771Asn) c.2062G>A (p.Asp688Asn) c.1970G>A (n.1970G>A) n.2496G>A c.2320G>A (p.Asp774Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302106G>C | CA356178342 | WFS1 | c.2347G>C (p.Asp783His) c.2288G>C c.2311G>C (p.Asp771His) c.2062G>C (p.Asp688His) c.1970G>C (n.1970G>C) n.2496G>C c.2320G>C (p.Asp774His) | ClinVar dbSNP |
4 | g.6302106G= | CA1435772336 | WFS1 | c.2347G= (p.Asp783=) c.2288G= c.2311G= (p.Asp771=) c.2062G= (p.Asp688=) c.1970G= (n.1970G=) n.2496G= c.2320G= (p.Asp774=) | |
4 | g.6302106G>T | CA356178343 | WFS1 | c.2347G>T (p.Asp783Tyr) c.2288G>T c.2311G>T (p.Asp771Tyr) c.2062G>T (p.Asp688Tyr) c.1970G>T (n.1970G>T) n.2496G>T c.2320G>T (p.Asp774Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302107A>C | CA356178346 | WFS1 | c.2348A>C (p.Asp783Ala) c.2289A>C c.2312A>C (p.Asp771Ala) c.2063A>C (p.Asp688Ala) c.1971A>C (n.1971A>C) n.2497A>C c.2321A>C (p.Asp774Ala) | |
4 | g.6302107A>G | CA356178345 | WFS1 | c.2348A>G (p.Asp783Gly) c.2289A>G c.2312A>G (p.Asp771Gly) c.2063A>G (p.Asp688Gly) c.1971A>G (n.1971A>G) n.2497A>G c.2321A>G (p.Asp774Gly) | gnomAD v4 |
4 | g.6302107A>T | CA356178344 | WFS1 | c.2348A>T (p.Asp783Val) c.2289A>T c.2312A>T (p.Asp771Val) c.2063A>T (p.Asp688Val) c.1971A>T (n.1971A>T) n.2497A>T c.2321A>T (p.Asp774Val) | |
4 | g.6302108C>A | CA356178348 | WFS1 | c.2349C>A (p.Asp783Glu) c.2290C>A c.2313C>A (p.Asp771Glu) c.2064C>A (p.Asp688Glu) c.1972C>A (n.1972C>A) n.2498C>A c.2322C>A (p.Asp774Glu) | |
4 | g.6302108C>G | CA356178347 | WFS1 | c.2349C>G (p.Asp783Glu) c.2290C>G c.2313C>G (p.Asp771Glu) c.2064C>G (p.Asp688Glu) c.1972C>G (n.1972C>G) n.2498C>G c.2322C>G (p.Asp774Glu) | |
4 | g.6302108C>T | CA438368252 | WFS1 | c.2349C>T (p.Asp783=) c.2290C>T c.2313C>T (p.Asp771=) c.2064C>T (p.Asp688=) c.1972C>T (n.1972C>T) n.2498C>T c.2322C>T (p.Asp774=) | |
4 | g.6302109dup | CA2841725576 | WFS1 | c.2350dup (p.Arg784ProfsTer5) c.2291dup c.2314dup (p.Arg772ProfsTer5) c.2065dup (p.Arg689ProfsTer5) c.1973dup (n.1973dup) n.2499dup c.2323dup (p.Arg775ProfsTer5) | |
4 | g.6302109C>A | CA356178350 | WFS1 | c.2350C>A (p.Arg784Ser) c.2291C>A c.2314C>A (p.Arg772Ser) c.2065C>A (p.Arg689Ser) c.1973C>A (n.1973C>A) n.2499C>A c.2323C>A (p.Arg775Ser) | gnomAD v4 |
4 | g.6302109C= | CA1435772338 | WFS1 | c.2350C= (p.Arg784=) c.2291C= c.2314C= (p.Arg772=) c.2065C= (p.Arg689=) c.1973C= (n.1973C=) n.2499C= c.2323C= (p.Arg775=) | |
4 | g.6302109C>G | CA356178349 | WFS1 | c.2350C>G (p.Arg784Gly) c.2291C>G c.2314C>G (p.Arg772Gly) c.2065C>G (p.Arg689Gly) c.1973C>G (n.1973C>G) n.2499C>G c.2323C>G (p.Arg775Gly) | dbSNP |
4 | g.6302109C>T | CA2839682 | WFS1 | c.2350C>T (p.Arg784Cys) c.2291C>T c.2314C>T (p.Arg772Cys) c.2065C>T (p.Arg689Cys) c.1973C>T (n.1973C>T) n.2499C>T c.2323C>T (p.Arg775Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302109_6302110insT | CA549707920 | WFS1 | c.2350_2351insT (p.Arg784LeufsTer5) c.2291_2292insT c.2314_2315insT (p.Arg772LeufsTer5) c.2065_2066insT (p.Arg689LeufsTer5) c.1973_1974insT (n.1973_1974insT) n.2499_2500insT c.2323_2324insT (p.Arg775LeufsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302110G>A | CA2839683 | WFS1 | c.2351G>A (p.Arg784His) c.2292G>A c.2315G>A (p.Arg772His) c.2066G>A (p.Arg689His) c.1974G>A (n.1974G>A) n.2500G>A c.2324G>A (p.Arg775His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302110G>C | CA356178351 | WFS1 | c.2351G>C (p.Arg784Pro) c.2292G>C c.2315G>C (p.Arg772Pro) c.2066G>C (p.Arg689Pro) c.1974G>C (n.1974G>C) n.2500G>C c.2324G>C (p.Arg775Pro) | gnomAD v4 |
4 | g.6302110G= | CA1435772340 | WFS1 | c.2351G= (p.Arg784=) c.2292G= c.2315G= (p.Arg772=) c.2066G= (p.Arg689=) c.1974G= (n.1974G=) n.2500G= c.2324G= (p.Arg775=) | |
4 | g.6302110G>T | CA2839684 | WFS1 | c.2351G>T (p.Arg784Leu) c.2292G>T c.2315G>T (p.Arg772Leu) c.2066G>T (p.Arg689Leu) c.1974G>T (n.1974G>T) n.2500G>T c.2324G>T (p.Arg775Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302111C>A | CA438368253 | WFS1 | c.2352C>A (p.Arg784=) c.2293C>A c.2316C>A (p.Arg772=) c.2067C>A (p.Arg689=) c.1975C>A (n.1975C>A) n.2501C>A c.2325C>A (p.Arg775=) | |
4 | g.6302111C= | CA1435772341 | WFS1 | c.2352C= (p.Arg784=) c.2293C= c.2316C= (p.Arg772=) c.2067C= (p.Arg689=) c.1975C= (n.1975C=) n.2501C= c.2325C= (p.Arg775=) | |
4 | g.6302111C>G | CA438368254 | WFS1 | c.2352C>G (p.Arg784=) c.2293C>G c.2316C>G (p.Arg772=) c.2067C>G (p.Arg689=) c.1975C>G (n.1975C>G) n.2501C>G c.2325C>G (p.Arg775=) | gnomAD v4 |
4 | g.6302111C>T | CA91797041 | WFS1 | c.2352C>T (p.Arg784=) c.2293C>T c.2316C>T (p.Arg772=) c.2067C>T (p.Arg689=) c.1975C>T (n.1975C>T) n.2501C>T c.2325C>T (p.Arg775=) | dbSNP |
4 | g.6302112T>A | CA356178352 | WFS1 | c.2353T>A (p.Tyr785Asn) c.2294T>A c.2317T>A (p.Tyr773Asn) c.2068T>A (p.Tyr690Asn) c.1976T>A (n.1976T>A) n.2502T>A c.2326T>A (p.Tyr776Asn) | |
4 | g.6302112T>C | CA356178353 | WFS1 | c.2353T>C (p.Tyr785His) c.2294T>C c.2317T>C (p.Tyr773His) c.2068T>C (p.Tyr690His) c.1976T>C (n.1976T>C) n.2502T>C c.2326T>C (p.Tyr776His) | |
4 | g.6302112T>G | CA356178354 | WFS1 | c.2353T>G (p.Tyr785Asp) c.2294T>G c.2317T>G (p.Tyr773Asp) c.2068T>G (p.Tyr690Asp) c.1976T>G (n.1976T>G) n.2502T>G c.2326T>G (p.Tyr776Asp) | |
4 | g.6302113A= | CA1435772343 | WFS1 | c.2354A= (p.Tyr785=) c.2295A= c.2318A= (p.Tyr773=) c.2069A= (p.Tyr690=) c.1977A= (n.1977A=) n.2503A= c.2327A= (p.Tyr776=) | |
4 | g.6302113A>C | CA356178355 | WFS1 | c.2354A>C (p.Tyr785Ser) c.2295A>C c.2318A>C (p.Tyr773Ser) c.2069A>C (p.Tyr690Ser) c.1977A>C (n.1977A>C) n.2503A>C c.2327A>C (p.Tyr776Ser) | |
4 | g.6302113A>G | CA91797043 | WFS1 | c.2354A>G (p.Tyr785Cys) c.2295A>G c.2318A>G (p.Tyr773Cys) c.2069A>G (p.Tyr690Cys) c.1977A>G (n.1977A>G) n.2503A>G c.2327A>G (p.Tyr776Cys) | ClinVar dbSNP gnomAD v4 |
4 | g.6302113A>T | CA356178356 | WFS1 | c.2354A>T (p.Tyr785Phe) c.2295A>T c.2318A>T (p.Tyr773Phe) c.2069A>T (p.Tyr690Phe) c.1977A>T (n.1977A>T) n.2503A>T c.2327A>T (p.Tyr776Phe) | |
4 | g.6302114C>A | CA356178358 | WFS1 | c.2355C>A (p.Tyr785Ter) c.2296C>A c.2319C>A (p.Tyr773Ter) c.2070C>A (p.Tyr690Ter) c.1978C>A (n.1978C>A) n.2504C>A c.2328C>A (p.Tyr776Ter) | |
4 | g.6302114C= | CA1435772345 | WFS1 | c.2355C= (p.Tyr785=) c.2296C= c.2319C= (p.Tyr773=) c.2070C= (p.Tyr690=) c.1978C= (n.1978C=) n.2504C= c.2328C= (p.Tyr776=) | |
4 | g.6302114C>G | CA356178357 | WFS1 | c.2355C>G (p.Tyr785Ter) c.2296C>G c.2319C>G (p.Tyr773Ter) c.2070C>G (p.Tyr690Ter) c.1978C>G (n.1978C>G) n.2504C>G c.2328C>G (p.Tyr776Ter) | |
4 | g.6302114C>T | CA438368255 | WFS1 | c.2355C>T (p.Tyr785=) c.2296C>T c.2319C>T (p.Tyr773=) c.2070C>T (p.Tyr690=) c.1978C>T (n.1978C>T) n.2504C>T c.2328C>T (p.Tyr776=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302115A= | CA1435772346 | WFS1 | c.2356A= (p.Lys786=) c.2297A= c.2320A= (p.Lys774=) c.2071A= (p.Lys691=) c.1979A= (n.1979A=) n.2505A= c.2329A= (p.Lys777=) | |
4 | g.6302115A>C | CA356178359 | WFS1 | c.2356A>C (p.Lys786Gln) c.2297A>C c.2320A>C (p.Lys774Gln) c.2071A>C (p.Lys691Gln) c.1979A>C (n.1979A>C) n.2505A>C c.2329A>C (p.Lys777Gln) | |
4 | g.6302115A>G | CA91797047 | WFS1 | c.2356A>G (p.Lys786Glu) c.2297A>G c.2320A>G (p.Lys774Glu) c.2071A>G (p.Lys691Glu) c.1979A>G (n.1979A>G) n.2505A>G c.2329A>G (p.Lys777Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302115A>T | CA356178360 | WFS1 | c.2356A>T (p.Lys786Ter) c.2297A>T c.2320A>T (p.Lys774Ter) c.2071A>T (p.Lys691Ter) c.1979A>T (n.1979A>T) n.2505A>T c.2329A>T (p.Lys777Ter) | |
4 | g.6302116A= | CA1435772348 | WFS1 | c.2357A= (p.Lys786=) c.2298A= c.2321A= (p.Lys774=) c.2072A= (p.Lys691=) c.1980A= (n.1980A=) n.2506A= c.2330A= (p.Lys777=) | |
4 | g.6302116A>C | CA2839686 | WFS1 | c.2357A>C (p.Lys786Thr) c.2298A>C c.2321A>C (p.Lys774Thr) c.2072A>C (p.Lys691Thr) c.1980A>C (n.1980A>C) n.2506A>C c.2330A>C (p.Lys777Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302116A>G | CA356178361 | WFS1 | c.2357A>G (p.Lys786Arg) c.2298A>G c.2321A>G (p.Lys774Arg) c.2072A>G (p.Lys691Arg) c.1980A>G (n.1980A>G) n.2506A>G c.2330A>G (p.Lys777Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302116A>T | CA2839685 | WFS1 | c.2357A>T (p.Lys786Met) c.2298A>T c.2321A>T (p.Lys774Met) c.2072A>T (p.Lys691Met) c.1980A>T (n.1980A>T) n.2506A>T c.2330A>T (p.Lys777Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302117G>A | CA282582 | WFS1 | c.2358G>A (p.Lys786=) c.2299G>A c.2322G>A (p.Lys774=) c.2073G>A (p.Lys691=) c.1981G>A (n.1981G>A) n.2507G>A c.2331G>A (p.Lys777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302117G>C | CA356178362 | WFS1 | c.2358G>C (p.Lys786Asn) c.2299G>C c.2322G>C (p.Lys774Asn) c.2073G>C (p.Lys691Asn) c.1981G>C (n.1981G>C) n.2507G>C c.2331G>C (p.Lys777Asn) | |
4 | g.6302117G= | CA1435772350 | WFS1 | c.2358G= (p.Lys786=) c.2299G= c.2322G= (p.Lys774=) c.2073G= (p.Lys691=) c.1981G= (n.1981G=) n.2507G= c.2331G= (p.Lys777=) | |
4 | g.6302117G>T | CA356178363 | WFS1 | c.2358G>T (p.Lys786Asn) c.2299G>T c.2322G>T (p.Lys774Asn) c.2073G>T (p.Lys691Asn) c.1981G>T (n.1981G>T) n.2507G>T c.2331G>T (p.Lys777Asn) | |
4 | g.6302118T>A | CA356178364 | WFS1 | c.2359T>A (p.Phe787Ile) c.2300T>A c.2323T>A (p.Phe775Ile) c.2074T>A (p.Phe692Ile) c.1982T>A (n.1982T>A) n.2508T>A c.2332T>A (p.Phe778Ile) | |
4 | g.6302118T>C | CA356178365 | WFS1 | c.2359T>C (p.Phe787Leu) c.2300T>C c.2323T>C (p.Phe775Leu) c.2074T>C (p.Phe692Leu) c.1982T>C (n.1982T>C) n.2508T>C c.2332T>C (p.Phe778Leu) | gnomAD v4 |
4 | g.6302118T>G | CA179673 | WFS1 | c.2359T>G (p.Phe787Val) c.2300T>G c.2323T>G (p.Phe775Val) c.2074T>G (p.Phe692Val) c.1982T>G (n.1982T>G) n.2508T>G c.2332T>G (p.Phe778Val) | ClinVar dbSNP |
4 | g.6302118T= | CA1435772351 | WFS1 | c.2359T= (p.Phe787=) c.2300T= c.2323T= (p.Phe775=) c.2074T= (p.Phe692=) c.1982T= (n.1982T=) n.2508T= c.2332T= (p.Phe778=) | |
4 | g.6302119_6302120del | CA2669843459 | WFS1 | c.2360_2361del (p.Phe787Ter) c.2301_2302del c.2324_2325del (p.Phe775Ter) c.2075_2076del (p.Phe692Ter) c.1983_1984del (n.1983_1984del) n.2509_2510del c.2333_2334del (p.Phe778Ter) | gnomAD v4 |
4 | g.6302119T>A | CA356178366 | WFS1 | c.2360T>A (p.Phe787Tyr) c.2301T>A c.2324T>A (p.Phe775Tyr) c.2075T>A (p.Phe692Tyr) c.1983T>A (n.1983T>A) n.2509T>A c.2333T>A (p.Phe778Tyr) | |
4 | g.6302119T>C | CA356178367 | WFS1 | c.2360T>C (p.Phe787Ser) c.2301T>C c.2324T>C (p.Phe775Ser) c.2075T>C (p.Phe692Ser) c.1983T>C (n.1983T>C) n.2509T>C c.2333T>C (p.Phe778Ser) | |
4 | g.6302119T>G | CA91797056 | WFS1 | c.2360T>G (p.Phe787Cys) c.2301T>G c.2324T>G (p.Phe775Cys) c.2075T>G (p.Phe692Cys) c.1983T>G (n.1983T>G) n.2509T>G c.2333T>G (p.Phe778Cys) | dbSNP |
4 | g.6302119T= | CA1435772353 | WFS1 | c.2360T= (p.Phe787=) c.2301T= c.2324T= (p.Phe775=) c.2075T= (p.Phe692=) c.1983T= (n.1983T=) n.2509T= c.2333T= (p.Phe778=) | |
4 | g.6302120T>A | CA356178368 | WFS1 | c.2361T>A (p.Phe787Leu) c.2302T>A c.2325T>A (p.Phe775Leu) c.2076T>A (p.Phe692Leu) c.1984T>A (n.1984T>A) n.2510T>A c.2334T>A (p.Phe778Leu) | |
4 | g.6302120T>C | CA438368256 | WFS1 | c.2361T>C (p.Phe787=) c.2302T>C c.2325T>C (p.Phe775=) c.2076T>C (p.Phe692=) c.1984T>C (n.1984T>C) n.2510T>C c.2334T>C (p.Phe778=) | |
4 | g.6302120T>G | CA356178369 | WFS1 | c.2361T>G (p.Phe787Leu) c.2302T>G c.2325T>G (p.Phe775Leu) c.2076T>G (p.Phe692Leu) c.1984T>G (n.1984T>G) n.2510T>G c.2334T>G (p.Phe778Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302120T= | CA1435772354 | WFS1 | c.2361T= (p.Phe787=) c.2302T= c.2325T= (p.Phe775=) c.2076T= (p.Phe692=) c.1984T= (n.1984T=) n.2510T= c.2334T= (p.Phe778=) | |
4 | g.6302121G>A | CA356178370 | WFS1 | c.2362G>A (p.Glu788Lys) c.2303G>A c.2326G>A (p.Glu776Lys) c.2077G>A (p.Glu693Lys) c.1985G>A (n.1985G>A) n.2511G>A c.2335G>A (p.Glu779Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302121G>C | CA356178371 | WFS1 | c.2362G>C (p.Glu788Gln) c.2303G>C c.2326G>C (p.Glu776Gln) c.2077G>C (p.Glu693Gln) c.1985G>C (n.1985G>C) n.2511G>C c.2335G>C (p.Glu779Gln) | |
4 | g.6302121G= | CA1435772356 | WFS1 | c.2362G= (p.Glu788=) c.2303G= c.2326G= (p.Glu776=) c.2077G= (p.Glu693=) c.1985G= (n.1985G=) n.2511G= c.2335G= (p.Glu779=) | |
4 | g.6302121G>T | CA356178372 | WFS1 | c.2362G>T (p.Glu788Ter) c.2303G>T c.2326G>T (p.Glu776Ter) c.2077G>T (p.Glu693Ter) c.1985G>T (n.1985G>T) n.2511G>T c.2335G>T (p.Glu779Ter) | |
4 | g.6302122A= | CA1435772358 | WFS1 | c.2363A= (p.Glu788=) c.2304A= c.2327A= (p.Glu776=) c.2078A= (p.Glu693=) c.1986A= (n.1986A=) n.2512A= c.2336A= (p.Glu779=) | |
4 | g.6302122A>C | CA356178373 | WFS1 | c.2363A>C (p.Glu788Ala) c.2304A>C c.2327A>C (p.Glu776Ala) c.2078A>C (p.Glu693Ala) c.1986A>C (n.1986A>C) n.2512A>C c.2336A>C (p.Glu779Ala) | |
4 | g.6302122A>G | CA356178374 | WFS1 | c.2363A>G (p.Glu788Gly) c.2304A>G c.2327A>G (p.Glu776Gly) c.2078A>G (p.Glu693Gly) c.1986A>G (n.1986A>G) n.2512A>G c.2336A>G (p.Glu779Gly) | |
4 | g.6302122A>T | CA179675 | WFS1 | c.2363A>T (p.Glu788Val) c.2304A>T c.2327A>T (p.Glu776Val) c.2078A>T (p.Glu693Val) c.1986A>T (n.1986A>T) n.2512A>T c.2336A>T (p.Glu779Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302123G>A | CA438368257 | WFS1 | c.2364G>A (p.Glu788=) c.2305G>A c.2328G>A (p.Glu776=) c.2079G>A (p.Glu693=) c.1987G>A (n.1987G>A) n.2513G>A c.2337G>A (p.Glu779=) | |
4 | g.6302123G>C | CA356178375 | WFS1 | c.2364G>C (p.Glu788Asp) c.2305G>C c.2328G>C (p.Glu776Asp) c.2079G>C (p.Glu693Asp) c.1987G>C (n.1987G>C) n.2513G>C c.2337G>C (p.Glu779Asp) | |
4 | g.6302123G>T | CA356178376 | WFS1 | c.2364G>T (p.Glu788Asp) c.2305G>T c.2328G>T (p.Glu776Asp) c.2079G>T (p.Glu693Asp) c.1987G>T (n.1987G>T) n.2513G>T c.2337G>T (p.Glu779Asp) | gnomAD v4 |
4 | g.6302124A>C | CA356178377 | WFS1 | c.2365A>C (p.Ile789Leu) c.2306A>C c.2329A>C (p.Ile777Leu) c.2080A>C (p.Ile694Leu) c.1988A>C (n.1988A>C) n.2514A>C c.2338A>C (p.Ile780Leu) | |
4 | g.6302124A>G | CA356178378 | WFS1 | c.2365A>G (p.Ile789Val) c.2306A>G c.2329A>G (p.Ile777Val) c.2080A>G (p.Ile694Val) c.1988A>G (n.1988A>G) n.2514A>G c.2338A>G (p.Ile780Val) | |
4 | g.6302124A>T | CA356178379 | WFS1 | c.2365A>T (p.Ile789Phe) c.2306A>T c.2329A>T (p.Ile777Phe) c.2080A>T (p.Ile694Phe) c.1988A>T (n.1988A>T) n.2514A>T c.2338A>T (p.Ile780Phe) | |
4 | g.6302125T>A | CA356178382 | WFS1 | c.2366T>A (p.Ile789Asn) c.2307T>A c.2330T>A (p.Ile777Asn) c.2081T>A (p.Ile694Asn) c.1989T>A (n.1989T>A) n.2515T>A c.2339T>A (p.Ile780Asn) | |
4 | g.6302125T>C | CA356178381 | WFS1 | c.2366T>C (p.Ile789Thr) c.2307T>C c.2330T>C (p.Ile777Thr) c.2081T>C (p.Ile694Thr) c.1989T>C (n.1989T>C) n.2515T>C c.2339T>C (p.Ile780Thr) | dbSNP gnomAD v4 |
4 | g.6302125T>G | CA356178380 | WFS1 | c.2366T>G (p.Ile789Ser) c.2307T>G c.2330T>G (p.Ile777Ser) c.2081T>G (p.Ile694Ser) c.1989T>G (n.1989T>G) n.2515T>G c.2339T>G (p.Ile780Ser) | ClinVar dbSNP |
4 | g.6302125T= | CA1435772360 | WFS1 | c.2366T= (p.Ile789=) c.2307T= c.2330T= (p.Ile777=) c.2081T= (p.Ile694=) c.1989T= (n.1989T=) n.2515T= c.2339T= (p.Ile780=) | |
4 | g.6302126dup | CA2573052347 | WFS1 | c.2367dup (p.Thr790TyrfsTer11) c.2308dup c.2331dup (p.Thr778TyrfsTer11) c.2082dup (p.Thr695TyrfsTer11) c.1990dup (n.1990dup) n.2516dup c.2340dup (p.Thr781TyrfsTer11) | ClinVar dbSNP |
4 | g.6302126T>A | CA438368258 | WFS1 | c.2367T>A (p.Ile789=) c.2308T>A c.2331T>A (p.Ile777=) c.2082T>A (p.Ile694=) c.1990T>A (n.1990T>A) n.2516T>A c.2340T>A (p.Ile780=) | |
4 | g.6302126T>C | CA438368259 | WFS1 | c.2367T>C (p.Ile789=) c.2308T>C c.2331T>C (p.Ile777=) c.2082T>C (p.Ile694=) c.1990T>C (n.1990T>C) n.2516T>C c.2340T>C (p.Ile780=) | dbSNP gnomAD v4 |
4 | g.6302126T>G | CA356178383 | WFS1 | c.2367T>G (p.Ile789Met) c.2308T>G c.2331T>G (p.Ile777Met) c.2082T>G (p.Ile694Met) c.1990T>G (n.1990T>G) n.2516T>G c.2340T>G (p.Ile780Met) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302126T= | CA1435772362 | WFS1 | c.2367T= (p.Ile789=) c.2308T= c.2331T= (p.Ile777=) c.2082T= (p.Ile694=) c.1990T= (n.1990T=) n.2516T= c.2340T= (p.Ile780=) | |
4 | g.6302127A= | CA1435772364 | WFS1 | c.2368A= (p.Thr790=) c.2309A= c.2332A= (p.Thr778=) c.2083A= (p.Thr695=) c.1991A= (n.1991A=) n.2517A= c.2341A= (p.Thr781=) | |
4 | g.6302127A>C | CA356178384 | WFS1 | c.2368A>C (p.Thr790Pro) c.2309A>C c.2332A>C (p.Thr778Pro) c.2083A>C (p.Thr695Pro) c.1991A>C (n.1991A>C) n.2517A>C c.2341A>C (p.Thr781Pro) | dbSNP |
4 | g.6302127A>G | CA356178385 | WFS1 | c.2368A>G (p.Thr790Ala) c.2309A>G c.2332A>G (p.Thr778Ala) c.2083A>G (p.Thr695Ala) c.1991A>G (n.1991A>G) n.2517A>G c.2341A>G (p.Thr781Ala) | |
4 | g.6302127A>T | CA356178386 | WFS1 | c.2368A>T (p.Thr790Ser) c.2309A>T c.2332A>T (p.Thr778Ser) c.2083A>T (p.Thr695Ser) c.1991A>T (n.1991A>T) n.2517A>T c.2341A>T (p.Thr781Ser) | |
4 | g.6302128C>A | CA356178387 | WFS1 | c.2369C>A (p.Thr790Asn) c.2310C>A c.2333C>A (p.Thr778Asn) c.2084C>A (p.Thr695Asn) c.1992C>A (n.1992C>A) n.2518C>A c.2342C>A (p.Thr781Asn) | |
4 | g.6302128C= | CA1435772365 | WFS1 | c.2369C= (p.Thr790=) c.2310C= c.2333C= (p.Thr778=) c.2084C= (p.Thr695=) c.1992C= (n.1992C=) n.2518C= c.2342C= (p.Thr781=) | |
4 | g.6302128C>G | CA356178388 | WFS1 | c.2369C>G (p.Thr790Ser) c.2310C>G c.2333C>G (p.Thr778Ser) c.2084C>G (p.Thr695Ser) c.1992C>G (n.1992C>G) n.2518C>G c.2342C>G (p.Thr781Ser) | |
4 | g.6302128C>T | CA2839687 | WFS1 | c.2369C>T (p.Thr790Ile) c.2310C>T c.2333C>T (p.Thr778Ile) c.2084C>T (p.Thr695Ile) c.1992C>T (n.1992C>T) n.2518C>T c.2342C>T (p.Thr781Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302129dup | CA2841725577 | WFS1 | c.2370dup (p.Val791ArgfsTer10) c.2311dup c.2334dup (p.Val779ArgfsTer10) c.2085dup (p.Val696ArgfsTer10) c.1993dup (n.1993dup) n.2519dup c.2343dup (p.Val782ArgfsTer10) | |
4 | g.6302129C>A | CA438368260 | WFS1 | c.2370C>A (p.Thr790=) c.2311C>A c.2334C>A (p.Thr778=) c.2085C>A (p.Thr695=) c.1993C>A (n.1993C>A) n.2519C>A c.2343C>A (p.Thr781=) | gnomAD v4 |
4 | g.6302129C= | CA1435772368 | WFS1 | c.2370C= (p.Thr790=) c.2311C= c.2334C= (p.Thr778=) c.2085C= (p.Thr695=) c.1993C= (n.1993C=) n.2519C= c.2343C= (p.Thr781=) | |
4 | g.6302129C>G | CA438368261 | WFS1 | c.2370C>G (p.Thr790=) c.2311C>G c.2334C>G (p.Thr778=) c.2085C>G (p.Thr695=) c.1993C>G (n.1993C>G) n.2519C>G c.2343C>G (p.Thr781=) | |
4 | g.6302129C>T | CA2839688 | WFS1 | c.2370C>T (p.Thr790=) c.2311C>T c.2334C>T (p.Thr778=) c.2085C>T (p.Thr695=) c.1993C>T (n.1993C>T) n.2519C>T c.2343C>T (p.Thr781=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302130G>A | CA282584 | WFS1 | c.2371G>A (p.Val791Met) c.2312G>A c.2335G>A (p.Val779Met) c.2086G>A (p.Val696Met) c.1994G>A (n.1994G>A) n.2520G>A c.2344G>A (p.Val782Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302130G>C | CA356178389 | WFS1 | c.2371G>C (p.Val791Leu) c.2312G>C c.2335G>C (p.Val779Leu) c.2086G>C (p.Val696Leu) c.1994G>C (n.1994G>C) n.2520G>C c.2344G>C (p.Val782Leu) | |
4 | g.6302130G= | CA1435772371 | WFS1 | c.2371G= (p.Val791=) c.2312G= c.2335G= (p.Val779=) c.2086G= (p.Val696=) c.1994G= (n.1994G=) n.2520G= c.2344G= (p.Val782=) | |
4 | g.6302130G>T | CA91797067 | WFS1 | c.2371G>T (p.Val791Leu) c.2312G>T c.2335G>T (p.Val779Leu) c.2086G>T (p.Val696Leu) c.1994G>T (n.1994G>T) n.2520G>T c.2344G>T (p.Val782Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302131T>A | CA356178390 | WFS1 | c.2372T>A (p.Val791Glu) c.2313T>A c.2336T>A (p.Val779Glu) c.2087T>A (p.Val696Glu) c.1995T>A (n.1995T>A) n.2521T>A c.2345T>A (p.Val782Glu) | |
4 | g.6302131T>C | CA356178391 | WFS1 | c.2372T>C (p.Val791Ala) c.2313T>C c.2336T>C (p.Val779Ala) c.2087T>C (p.Val696Ala) c.1995T>C (n.1995T>C) n.2521T>C c.2345T>C (p.Val782Ala) | dbSNP |
4 | g.6302131T>G | CA91797070 | WFS1 | c.2372T>G (p.Val791Gly) c.2313T>G c.2336T>G (p.Val779Gly) c.2087T>G (p.Val696Gly) c.1995T>G (n.1995T>G) n.2521T>G c.2345T>G (p.Val782Gly) | dbSNP |
4 | g.6302131T= | CA1435772373 | WFS1 | c.2372T= (p.Val791=) c.2313T= c.2336T= (p.Val779=) c.2087T= (p.Val696=) c.1995T= (n.1995T=) n.2521T= c.2345T= (p.Val782=) | |
4 | g.6302132G>A | CA438368262 | WFS1 | c.2373G>A (p.Val791=) c.2314G>A c.2337G>A (p.Val779=) c.2088G>A (p.Val696=) c.1996G>A (n.1996G>A) n.2522G>A c.2346G>A (p.Val782=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302132G>C | CA438368263 | WFS1 | c.2373G>C (p.Val791=) c.2314G>C c.2337G>C (p.Val779=) c.2088G>C (p.Val696=) c.1996G>C (n.1996G>C) n.2522G>C c.2346G>C (p.Val782=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302132G= | CA1435772375 | WFS1 | c.2373G= (p.Val791=) c.2314G= c.2337G= (p.Val779=) c.2088G= (p.Val696=) c.1996G= (n.1996G=) n.2522G= c.2346G= (p.Val782=) | |
4 | g.6302132G>T | CA438368264 | WFS1 | c.2373G>T (p.Val791=) c.2314G>T c.2337G>T (p.Val779=) c.2088G>T (p.Val696=) c.1996G>T (n.1996G>T) n.2522G>T c.2346G>T (p.Val782=) | gnomAD v4 |
4 | g.6302133G>A | CA129330 | WFS1 | c.2374G>A (p.Gly792Ser) c.2315G>A c.2338G>A (p.Gly780Ser) c.2089G>A (p.Gly697Ser) c.1997G>A (n.1997G>A) n.2523G>A c.2347G>A (p.Gly783Ser) | ClinVar dbSNP |
4 | g.6302133G>C | CA356178393 | WFS1 | c.2374G>C (p.Gly792Arg) c.2315G>C c.2338G>C (p.Gly780Arg) c.2089G>C (p.Gly697Arg) c.1997G>C (n.1997G>C) n.2523G>C c.2347G>C (p.Gly783Arg) | |
4 | g.6302133G= | CA1435772376 | WFS1 | c.2374G= (p.Gly792=) c.2315G= c.2338G= (p.Gly780=) c.2089G= (p.Gly697=) c.1997G= (n.1997G=) n.2523G= c.2347G= (p.Gly783=) | |
4 | g.6302133G>T | CA356178392 | WFS1 | c.2374G>T (p.Gly792Cys) c.2315G>T c.2338G>T (p.Gly780Cys) c.2089G>T (p.Gly697Cys) c.1997G>T (n.1997G>T) n.2523G>T c.2347G>T (p.Gly783Cys) | |
4 | g.6302134G>A | CA356178394 | WFS1 | c.2375G>A (p.Gly792Asp) c.2316G>A c.2339G>A (p.Gly780Asp) c.2090G>A (p.Gly697Asp) c.1998G>A (n.1998G>A) n.2524G>A c.2348G>A (p.Gly783Asp) | ClinVar |
4 | g.6302134G>C | CA356178396 | WFS1 | c.2375G>C (p.Gly792Ala) c.2316G>C c.2339G>C (p.Gly780Ala) c.2090G>C (p.Gly697Ala) c.1998G>C (n.1998G>C) n.2524G>C c.2348G>C (p.Gly783Ala) | |
4 | g.6302134G>T | CA356178395 | WFS1 | c.2375G>T (p.Gly792Val) c.2316G>T c.2339G>T (p.Gly780Val) c.2090G>T (p.Gly697Val) c.1998G>T (n.1998G>T) n.2524G>T c.2348G>T (p.Gly783Val) | ClinVar |
4 | g.6302135C>A | CA10619010 | WFS1 | c.2376C>A (p.Gly792=) c.2317C>A c.2340C>A (p.Gly780=) c.2091C>A (p.Gly697=) c.1999C>A (n.1999C>A) n.2525C>A c.2349C>A (p.Gly783=) | ClinVar dbSNP |
4 | g.6302135C= | CA1435772378 | WFS1 | c.2376C= (p.Gly792=) c.2317C= c.2340C= (p.Gly780=) c.2091C= (p.Gly697=) c.1999C= (n.1999C=) n.2525C= c.2349C= (p.Gly783=) | |
4 | g.6302135C>G | CA438368265 | WFS1 | c.2376C>G (p.Gly792=) c.2317C>G c.2340C>G (p.Gly780=) c.2091C>G (p.Gly697=) c.1999C>G (n.1999C>G) n.2525C>G c.2349C>G (p.Gly783=) | |
4 | g.6302135C>T | CA438368266 | WFS1 | c.2376C>T (p.Gly792=) c.2317C>T c.2340C>T (p.Gly780=) c.2091C>T (p.Gly697=) c.1999C>T (n.1999C>T) n.2525C>T c.2349C>T (p.Gly783=) | |
4 | g.6302135dup | CA2839869370 | WFS1 | c.2376dup (p.Met793HisfsTer8) c.2317dup c.2340dup (p.Met781HisfsTer8) c.2091dup (p.Met698HisfsTer8) c.1999dup (n.1999dup) n.2525dup c.2349dup (p.Met784HisfsTer8) | |
4 | g.6302136A= | CA1435772379 | WFS1 | c.2377A= (p.Met793=) c.2318A= c.2341A= (p.Met781=) c.2092A= (p.Met698=) c.2000A= (n.2000A=) n.2526A= c.2350A= (p.Met784=) | |
4 | g.6302136A>C | CA356178397 | WFS1 | c.2377A>C (p.Met793Leu) c.2318A>C c.2341A>C (p.Met781Leu) c.2092A>C (p.Met698Leu) c.2000A>C (n.2000A>C) n.2526A>C c.2350A>C (p.Met784Leu) | gnomAD v4 |
4 | g.6302136A>G | CA91797078 | WFS1 | c.2377A>G (p.Met793Val) c.2318A>G c.2341A>G (p.Met781Val) c.2092A>G (p.Met698Val) c.2000A>G (n.2000A>G) n.2526A>G c.2350A>G (p.Met784Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302136A>T | CA356178398 | WFS1 | c.2377A>T (p.Met793Leu) c.2318A>T c.2341A>T (p.Met781Leu) c.2092A>T (p.Met698Leu) c.2000A>T (n.2000A>T) n.2526A>T c.2350A>T (p.Met784Leu) | |
4 | g.6302137T>A | CA356178399 | WFS1 | c.2378T>A (p.Met793Lys) c.2319T>A c.2342T>A (p.Met781Lys) c.2093T>A (p.Met698Lys) c.2001T>A (n.2001T>A) n.2527T>A c.2351T>A (p.Met784Lys) | gnomAD v4 |
4 | g.6302137T>C | CA356178400 | WFS1 | c.2378T>C (p.Met793Thr) c.2319T>C c.2342T>C (p.Met781Thr) c.2093T>C (p.Met698Thr) c.2001T>C (n.2001T>C) n.2527T>C c.2351T>C (p.Met784Thr) | |
4 | g.6302137T>G | CA356178401 | WFS1 | c.2378T>G (p.Met793Arg) c.2319T>G c.2342T>G (p.Met781Arg) c.2093T>G (p.Met698Arg) c.2001T>G (n.2001T>G) n.2527T>G c.2351T>G (p.Met784Arg) | |
4 | g.6302138del | CA2586973650 | WFS1 | c.2379del (p.Met793IlefsTer?) c.2320del c.2343del (p.Met781IlefsTer?) c.2094del (p.Met698IlefsTer?) c.2002del (n.2002del) n.2528del c.2352del (p.Met784IlefsTer?) | |
4 | g.6302138G>A | CA2839689 | WFS1 | c.2379G>A (p.Met793Ile) c.2320G>A c.2343G>A (p.Met781Ile) c.2094G>A (p.Met698Ile) c.2002G>A (n.2002G>A) n.2528G>A c.2352G>A (p.Met784Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302138G>C | CA356178402 | WFS1 | c.2379G>C (p.Met793Ile) c.2320G>C c.2343G>C (p.Met781Ile) c.2094G>C (p.Met698Ile) c.2002G>C (n.2002G>C) n.2528G>C c.2352G>C (p.Met784Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302138G= | CA1435772380 | WFS1 | c.2379G= (p.Met793=) c.2320G= c.2343G= (p.Met781=) c.2094G= (p.Met698=) c.2002G= (n.2002G=) n.2528G= c.2352G= (p.Met784=) | |
4 | g.6302138G>T | CA356178403 | WFS1 | c.2379G>T (p.Met793Ile) c.2320G>T c.2343G>T (p.Met781Ile) c.2094G>T (p.Met698Ile) c.2002G>T (n.2002G>T) n.2528G>T c.2352G>T (p.Met784Ile) | |
4 | g.6302139C>A | CA356178404 | WFS1 | c.2380C>A (p.Pro794Thr) c.2321C>A c.2344C>A (p.Pro782Thr) c.2095C>A (p.Pro699Thr) c.2003C>A (n.2003C>A) n.2529C>A c.2353C>A (p.Pro785Thr) | |
4 | g.6302139C>G | CA356178405 | WFS1 | c.2380C>G (p.Pro794Ala) c.2321C>G c.2344C>G (p.Pro782Ala) c.2095C>G (p.Pro699Ala) c.2003C>G (n.2003C>G) n.2529C>G c.2353C>G (p.Pro785Ala) | |
4 | g.6302139C>T | CA356178406 | WFS1 | c.2380C>T (p.Pro794Ser) c.2321C>T c.2344C>T (p.Pro782Ser) c.2095C>T (p.Pro699Ser) c.2003C>T (n.2003C>T) n.2529C>T c.2353C>T (p.Pro785Ser) | |
4 | g.6302140C>A | CA356178407 | WFS1 | c.2381C>A (p.Pro794Gln) c.2322C>A c.2345C>A (p.Pro782Gln) c.2096C>A (p.Pro699Gln) c.2004C>A (n.2004C>A) n.2530C>A c.2354C>A (p.Pro785Gln) | |
4 | g.6302140C= | CA1435772381 | WFS1 | c.2381C= (p.Pro794=) c.2322C= c.2345C= (p.Pro782=) c.2096C= (p.Pro699=) c.2004C= (n.2004C=) n.2530C= c.2354C= (p.Pro785=) | |
4 | g.6302140C>G | CA356178409 | WFS1 | c.2381C>G (p.Pro794Arg) c.2322C>G c.2345C>G (p.Pro782Arg) c.2096C>G (p.Pro699Arg) c.2004C>G (n.2004C>G) n.2530C>G c.2354C>G (p.Pro785Arg) | |
4 | g.6302140C>T | CA356178408 | WFS1 | c.2381C>T (p.Pro794Leu) c.2322C>T c.2345C>T (p.Pro782Leu) c.2096C>T (p.Pro699Leu) c.2004C>T (n.2004C>T) n.2530C>T c.2354C>T (p.Pro785Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302141A= | CA1435772383 | WFS1 | c.2382A= (p.Pro794=) c.2323A= c.2346A= (p.Pro782=) c.2097A= (p.Pro699=) c.2005A= (n.2005A=) n.2531A= c.2355A= (p.Pro785=) | |
4 | g.6302141A>C | CA2839690 | WFS1 | c.2382A>C (p.Pro794=) c.2323A>C c.2346A>C (p.Pro782=) c.2097A>C (p.Pro699=) c.2005A>C (n.2005A>C) n.2531A>C c.2355A>C (p.Pro785=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302141A>G | CA438368267 | WFS1 | c.2382A>G (p.Pro794=) c.2323A>G c.2346A>G (p.Pro782=) c.2097A>G (p.Pro699=) c.2005A>G (n.2005A>G) n.2531A>G c.2355A>G (p.Pro785=) | gnomAD v4 |
4 | g.6302141A>T | CA438368268 | WFS1 | c.2382A>T (p.Pro794=) c.2323A>T c.2346A>T (p.Pro782=) c.2097A>T (p.Pro699=) c.2005A>T (n.2005A>T) n.2531A>T c.2355A>T (p.Pro785=) | |
4 | g.6302142T>A | CA356178410 | WFS1 | c.2383T>A (p.Phe795Ile) c.2324T>A c.2347T>A (p.Phe783Ile) c.2098T>A (p.Phe700Ile) c.2006T>A (n.2006T>A) n.2532T>A c.2356T>A (p.Phe786Ile) | |
4 | g.6302142T>C | CA323353 | WFS1 | c.2383T>C (p.Phe795Leu) c.2324T>C c.2347T>C (p.Phe783Leu) c.2098T>C (p.Phe700Leu) c.2006T>C (n.2006T>C) n.2532T>C c.2356T>C (p.Phe786Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302142T>G | CA356178411 | WFS1 | c.2383T>G (p.Phe795Val) c.2324T>G c.2347T>G (p.Phe783Val) c.2098T>G (p.Phe700Val) c.2006T>G (n.2006T>G) n.2532T>G c.2356T>G (p.Phe786Val) | gnomAD v4 |
4 | g.6302142T= | CA1435772384 | WFS1 | c.2383T= (p.Phe795=) c.2324T= c.2347T= (p.Phe783=) c.2098T= (p.Phe700=) c.2006T= (n.2006T=) n.2532T= c.2356T= (p.Phe786=) | |
4 | g.6302143T>A | CA356178412 | WFS1 | c.2384T>A (p.Phe795Tyr) c.2325T>A c.2348T>A (p.Phe783Tyr) c.2099T>A (p.Phe700Tyr) c.2007T>A (n.2007T>A) n.2533T>A c.2357T>A (p.Phe786Tyr) | |
4 | g.6302143T>C | CA356178413 | WFS1 | c.2384T>C (p.Phe795Ser) c.2325T>C c.2348T>C (p.Phe783Ser) c.2099T>C (p.Phe700Ser) c.2007T>C (n.2007T>C) n.2533T>C c.2357T>C (p.Phe786Ser) | dbSNP |
4 | g.6302143T>G | CA356178414 | WFS1 | c.2384T>G (p.Phe795Cys) c.2325T>G c.2348T>G (p.Phe783Cys) c.2099T>G (p.Phe700Cys) c.2007T>G (n.2007T>G) n.2533T>G c.2357T>G (p.Phe786Cys) | gnomAD v4 |
4 | g.6302143T= | CA1435772386 | WFS1 | c.2384T= (p.Phe795=) c.2325T= c.2348T= (p.Phe783=) c.2099T= (p.Phe700=) c.2007T= (n.2007T=) n.2533T= c.2357T= (p.Phe786=) | |
4 | g.6302143_6302144del | CA2565067803 | WFS1 | c.2384_2385del (p.Phe795Ter) c.2325_2326del c.2348_2349del (p.Phe783Ter) c.2099_2100del (p.Phe700Ter) c.2007_2008del (n.2007_2008del) n.2533_2534del c.2357_2358del (p.Phe786Ter) | |
4 | g.6302143_6302146delinsTCAG | CA1435772385 | WFS1 | c.2384_2387delinsTCAG (p.Phe795=) c.2325_2328delinsTCAG c.2348_2351delinsTCAG (p.Phe783=) c.2099_2102delinsTCAG (p.Phe700=) c.2007_2010delinsTCAG (n.2007_2010delinsTCAG) n.2533_2536delinsTCAG c.2357_2360delinsTCAG (p.Phe786=) | |
4 | g.6302144C>A | CA356178415 | WFS1 | c.2385C>A (p.Phe795Leu) c.2326C>A c.2349C>A (p.Phe783Leu) c.2100C>A (p.Phe700Leu) c.2008C>A (n.2008C>A) n.2534C>A c.2358C>A (p.Phe786Leu) | ClinVar gnomAD v4 |
4 | g.6302144C= | CA1435772388 | WFS1 | c.2385C= (p.Phe795=) c.2326C= c.2349C= (p.Phe783=) c.2100C= (p.Phe700=) c.2008C= (n.2008C=) n.2534C= c.2358C= (p.Phe786=) | |
4 | g.6302144C>G | CA356178416 | WFS1 | c.2385C>G (p.Phe795Leu) c.2326C>G c.2349C>G (p.Phe783Leu) c.2100C>G (p.Phe700Leu) c.2008C>G (n.2008C>G) n.2534C>G c.2358C>G (p.Phe786Leu) | |
4 | g.6302144C>T | CA2839692 | WFS1 | c.2385C>T (p.Phe795=) c.2326C>T c.2349C>T (p.Phe783=) c.2100C>T (p.Phe700=) c.2008C>T (n.2008C>T) n.2534C>T c.2358C>T (p.Phe786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302148_6302150del | CA2839691 | WFS1 | c.2389_2391del (p.Ser797del) c.2330_2332del c.2353_2355del (p.Ser785del) c.2104_2106del (p.Ser702del) n.2538_2540del c.2362_2364del (p.Ser788del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302145A= | CA1435772389 | WFS1 | c.2386A= (p.Ser796=) c.2327A= c.2350A= (p.Ser784=) c.2101A= (p.Ser701=) c.2009A= (n.2009A=) n.2535A= c.2359A= (p.Ser787=) | |
4 | g.6302145A>C | CA356178419 | WFS1 | c.2386A>C (p.Ser796Arg) c.2327A>C c.2350A>C (p.Ser784Arg) c.2101A>C (p.Ser701Arg) c.2009A>C (n.2009A>C) n.2535A>C c.2359A>C (p.Ser787Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302145A>G | CA356178418 | WFS1 | c.2386A>G (p.Ser796Gly) c.2327A>G c.2350A>G (p.Ser784Gly) c.2101A>G (p.Ser701Gly) c.2009A>G (n.2009A>G) n.2535A>G c.2359A>G (p.Ser787Gly) | gnomAD v4 |
4 | g.6302145A>T | CA356178417 | WFS1 | c.2386A>T (p.Ser796Cys) c.2327A>T c.2350A>T (p.Ser784Cys) c.2101A>T (p.Ser701Cys) c.2009A>T (n.2009A>T) n.2535A>T c.2359A>T (p.Ser787Cys) | ClinVar dbSNP |
4 | g.6302146del | CA2535997331 | WFS1 | c.2387del (p.Ser796ThrfsTer?) c.2328del c.2351del (p.Ser784ThrfsTer?) c.2102del (p.Ser701ThrfsTer?) c.2010del (n.2010del) n.2536del c.2360del (p.Ser787ThrfsTer?) | |
4 | g.6302146G>A | CA356178422 | WFS1 | c.2387G>A (p.Ser796Asn) c.2328G>A c.2351G>A (p.Ser784Asn) c.2102G>A (p.Ser701Asn) c.2010G>A (n.2010G>A) n.2536G>A c.2360G>A (p.Ser787Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302146G>C | CA356178420 | WFS1 | c.2387G>C (p.Ser796Thr) c.2328G>C c.2351G>C (p.Ser784Thr) c.2102G>C (p.Ser701Thr) c.2010G>C (n.2010G>C) n.2536G>C c.2360G>C (p.Ser787Thr) | |
4 | g.6302146G= | CA1435772391 | WFS1 | c.2387G= (p.Ser796=) c.2328G= c.2351G= (p.Ser784=) c.2102G= (p.Ser701=) c.2010G= (n.2010G=) n.2536G= c.2360G= (p.Ser787=) | |
4 | g.6302146G>T | CA356178421 | WFS1 | c.2387G>T (p.Ser796Ile) c.2328G>T c.2351G>T (p.Ser784Ile) c.2102G>T (p.Ser701Ile) c.2010G>T (n.2010G>T) n.2536G>T c.2360G>T (p.Ser787Ile) | |
4 | g.6302147C>A | CA356178423 | WFS1 | c.2388C>A (p.Ser796Arg) c.2329C>A c.2352C>A (p.Ser784Arg) c.2103C>A (p.Ser701Arg) c.2011C>A (n.2011C>A) n.2537C>A c.2361C>A (p.Ser787Arg) | |
4 | g.6302147C= | CA1435772392 | WFS1 | c.2388C= (p.Ser796=) c.2329C= c.2352C= (p.Ser784=) c.2103C= (p.Ser701=) c.2011C= (n.2011C=) n.2537C= c.2361C= (p.Ser787=) | |
4 | g.6302147C>G | CA356178424 | WFS1 | c.2388C>G (p.Ser796Arg) c.2329C>G c.2352C>G (p.Ser784Arg) c.2103C>G (p.Ser701Arg) c.2011C>G (n.2011C>G) n.2537C>G c.2361C>G (p.Ser787Arg) | |
4 | g.6302147C>T | CA2839693 | WFS1 | c.2388C>T (p.Ser796=) c.2329C>T c.2352C>T (p.Ser784=) c.2103C>T (p.Ser701=) c.2011C>T (n.2011C>T) n.2537C>T c.2361C>T (p.Ser787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302147dup | CA2838233139 | WFS1 | c.2388dup (p.Ser797GlnfsTer4) c.2329dup c.2352dup (p.Ser785GlnfsTer4) c.2103dup (p.Ser702GlnfsTer4) c.2011dup (n.2011dup) n.2537dup c.2361dup (p.Ser788GlnfsTer4) | |
4 | g.6302148A= | CA1435772394 | WFS1 | c.2389A= (p.Ser797=) c.2330A= c.2353A= (p.Ser785=) c.2104A= (p.Ser702=) c.2012A= (n.2012A=) n.2538A= c.2362A= (p.Ser788=) | |
4 | g.6302148A>C | CA356178427 | WFS1 | c.2389A>C (p.Ser797Arg) c.2330A>C c.2353A>C (p.Ser785Arg) c.2104A>C (p.Ser702Arg) c.2012A>C (n.2012A>C) n.2538A>C c.2362A>C (p.Ser788Arg) | |
4 | g.6302148A>G | CA356178426 | WFS1 | c.2389A>G (p.Ser797Gly) c.2330A>G c.2353A>G (p.Ser785Gly) c.2104A>G (p.Ser702Gly) c.2012A>G (n.2012A>G) n.2538A>G c.2362A>G (p.Ser788Gly) | dbSNP |
4 | g.6302148A>T | CA356178425 | WFS1 | c.2389A>T (p.Ser797Cys) c.2330A>T c.2353A>T (p.Ser785Cys) c.2104A>T (p.Ser702Cys) c.2012A>T (n.2012A>T) n.2538A>T c.2362A>T (p.Ser788Cys) | |
4 | g.6302149G>A | CA356178428 | WFS1 | c.2390G>A (p.Ser797Asn) c.2331G>A c.2354G>A (p.Ser785Asn) c.2105G>A (p.Ser702Asn) c.2013G>A (n.2013G>A) n.2539G>A c.2363G>A (p.Ser788Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302149G>C | CA356178429 | WFS1 | c.2390G>C (p.Ser797Thr) c.2331G>C c.2354G>C (p.Ser785Thr) c.2105G>C (p.Ser702Thr) c.2013G>C (n.2013G>C) n.2539G>C c.2363G>C (p.Ser788Thr) | |
4 | g.6302149G= | CA1435772396 | WFS1 | c.2390G= (p.Ser797=) c.2331G= c.2354G= (p.Ser785=) c.2105G= (p.Ser702=) c.2013G= (n.2013G=) n.2539G= c.2363G= (p.Ser788=) | |
4 | g.6302149G>T | CA91797089 | WFS1 | c.2390G>T (p.Ser797Ile) c.2331G>T c.2354G>T (p.Ser785Ile) c.2105G>T (p.Ser702Ile) c.2013G>T (n.2013G>T) n.2539G>T c.2363G>T (p.Ser788Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302150C>A | CA356178430 | WFS1 | c.2391C>A (p.Ser797Arg) c.2332C>A c.2355C>A (p.Ser785Arg) c.2106C>A (p.Ser702Arg) n.2540C>A c.2364C>A (p.Ser788Arg) | gnomAD v4 |
4 | g.6302150C= | CA1435772397 | WFS1 | c.2391C= (p.Ser797=) c.2332C= c.2355C= (p.Ser785=) c.2106C= (p.Ser702=) n.2540C= c.2364C= (p.Ser788=) | |
4 | g.6302150C>G | CA356178431 | WFS1 | c.2391C>G (p.Ser797Arg) c.2332C>G c.2355C>G (p.Ser785Arg) c.2106C>G (p.Ser702Arg) n.2540C>G c.2364C>G (p.Ser788Arg) | |
4 | g.6302150C>T | CA2839694 | WFS1 | c.2391C>T (p.Ser797=) c.2332C>T c.2355C>T (p.Ser785=) c.2106C>T (p.Ser702=) n.2540C>T c.2364C>T (p.Ser788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302151G>A | CA285653 | WFS1 | c.2392G>A (p.Gly798Ser) c.2333G>A c.2356G>A (p.Gly786Ser) c.2107G>A (p.Gly703Ser) n.2541G>A c.2365G>A (p.Gly789Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302151G>C | CA356178433 | WFS1 | c.2392G>C (p.Gly798Arg) c.2333G>C c.2356G>C (p.Gly786Arg) c.2107G>C (p.Gly703Arg) n.2541G>C c.2365G>C (p.Gly789Arg) | dbSNP |
4 | g.6302151G= | CA1435772400 | WFS1 | c.2392G= (p.Gly798=) c.2333G= c.2356G= (p.Gly786=) c.2107G= (p.Gly703=) n.2541G= c.2365G= (p.Gly789=) | |
4 | g.6302151G>T | CA356178432 | WFS1 | c.2392G>T (p.Gly798Cys) c.2333G>T c.2356G>T (p.Gly786Cys) c.2107G>T (p.Gly703Cys) n.2541G>T c.2365G>T (p.Gly789Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302152G>A | CA356178434 | WFS1 | c.2393G>A (p.Gly798Asp) c.2334G>A c.2357G>A (p.Gly786Asp) c.2108G>A (p.Gly703Asp) n.2542G>A c.2366G>A (p.Gly789Asp) | |
4 | g.6302152G>C | CA2839695 | WFS1 | c.2393G>C (p.Gly798Ala) c.2334G>C c.2357G>C (p.Gly786Ala) c.2108G>C (p.Gly703Ala) n.2542G>C c.2366G>C (p.Gly789Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302152G= | CA1435772402 | WFS1 | c.2393G= (p.Gly798=) c.2334G= c.2357G= (p.Gly786=) c.2108G= (p.Gly703=) n.2542G= c.2366G= (p.Gly789=) | |
4 | g.6302152G>T | CA356178435 | WFS1 | c.2393G>T (p.Gly798Val) c.2334G>T c.2357G>T (p.Gly786Val) c.2108G>T (p.Gly703Val) n.2542G>T c.2366G>T (p.Gly789Val) | |
4 | g.6302153C>A | CA438368269 | WFS1 | c.2394C>A (p.Gly798=) c.2335C>A c.2358C>A (p.Gly786=) c.2109C>A (p.Gly703=) n.2543C>A c.2367C>A (p.Gly789=) | |
4 | g.6302153C= | CA1435772403 | WFS1 | c.2394C= (p.Gly798=) c.2335C= c.2358C= (p.Gly786=) c.2109C= (p.Gly703=) n.2543C= c.2367C= (p.Gly789=) | |
4 | g.6302153C>G | CA438368270 | WFS1 | c.2394C>G (p.Gly798=) c.2335C>G c.2358C>G (p.Gly786=) c.2109C>G (p.Gly703=) n.2543C>G c.2367C>G (p.Gly789=) | |
4 | g.6302153C>T | CA2839696 | WFS1 | c.2394C>T (p.Gly798=) c.2335C>T c.2358C>T (p.Gly786=) c.2109C>T (p.Gly703=) n.2543C>T c.2367C>T (p.Gly789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302154G>A | CA2839697 | WFS1 | c.2395G>A (p.Ala799Thr) c.2336G>A c.2359G>A (p.Ala787Thr) c.2110G>A (p.Ala704Thr) n.2544G>A c.2368G>A (p.Ala790Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302154G>C | CA2839698 | WFS1 | c.2395G>C (p.Ala799Pro) c.2336G>C c.2359G>C (p.Ala787Pro) c.2110G>C (p.Ala704Pro) n.2544G>C c.2368G>C (p.Ala790Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302154G= | CA1435772405 | WFS1 | c.2395G= (p.Ala799=) c.2336G= c.2359G= (p.Ala787=) c.2110G= (p.Ala704=) n.2544G= c.2368G= (p.Ala790=) | |
4 | g.6302154G>T | CA356178436 | WFS1 | c.2395G>T (p.Ala799Ser) c.2336G>T c.2359G>T (p.Ala787Ser) c.2110G>T (p.Ala704Ser) n.2544G>T c.2368G>T (p.Ala790Ser) | |
4 | g.6302154_6302155delinsAA | CA323327 | WFS1 | c.2395_2396delinsAA (p.Ala799Asn) c.2336_2337delinsAA c.2359_2360delinsAA (p.Ala787Asn) c.2110_2111delinsAA (p.Ala704Asn) n.2544_2545delinsAA c.2368_2369delinsAA (p.Ala790Asn) | ClinVar dbSNP |
4 | g.6302154_6302155delinsGC | CA1435772406 | WFS1 | c.2395_2396delinsGC (p.Ala799=) c.2336_2337delinsGC c.2359_2360delinsGC (p.Ala787=) c.2110_2111delinsGC (p.Ala704=) n.2544_2545delinsGC c.2368_2369delinsGC (p.Ala790=) | |
4 | g.6302155C>A | CA2839699 | WFS1 | c.2396C>A (p.Ala799Asp) c.2337C>A c.2360C>A (p.Ala787Asp) c.2111C>A (p.Ala704Asp) n.2545C>A c.2369C>A (p.Ala790Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302155C= | CA1435772407 | WFS1 | c.2396C= (p.Ala799=) c.2337C= c.2360C= (p.Ala787=) c.2111C= (p.Ala704=) n.2545C= c.2369C= (p.Ala790=) | |
4 | g.6302155C>G | CA356178437 | WFS1 | c.2396C>G (p.Ala799Gly) c.2337C>G c.2360C>G (p.Ala787Gly) c.2111C>G (p.Ala704Gly) n.2545C>G c.2369C>G (p.Ala790Gly) | gnomAD v4 |
4 | g.6302155C>T | CA356178438 | WFS1 | c.2396C>T (p.Ala799Val) c.2337C>T c.2360C>T (p.Ala787Val) c.2111C>T (p.Ala704Val) n.2545C>T c.2369C>T (p.Ala790Val) | |
4 | g.6302156T>A | CA438368271 | WFS1 | c.2397T>A (p.Ala799=) c.2338T>A c.2361T>A (p.Ala787=) c.2112T>A (p.Ala704=) n.2546T>A c.2370T>A (p.Ala790=) | |
4 | g.6302156T>C | CA2839700 | WFS1 | c.2397T>C (p.Ala799=) c.2338T>C c.2361T>C (p.Ala787=) c.2112T>C (p.Ala704=) n.2546T>C c.2370T>C (p.Ala790=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302156T>G | CA438368272 | WFS1 | c.2397T>G (p.Ala799=) c.2338T>G c.2361T>G (p.Ala787=) c.2112T>G (p.Ala704=) n.2546T>G c.2370T>G (p.Ala790=) | |
4 | g.6302156T= | CA1435772408 | WFS1 | c.2397T= (p.Ala799=) c.2338T= c.2361T= (p.Ala787=) c.2112T= (p.Ala704=) n.2546T= c.2370T= (p.Ala790=) | |
4 | g.6302157G>A | CA356178440 | WFS1 | c.2398G>A (p.Asp800Asn) c.2339G>A c.2362G>A (p.Asp788Asn) c.2113G>A (p.Asp705Asn) n.2547G>A c.2371G>A (p.Asp791Asn) | |
4 | g.6302157G>C | CA356178441 | WFS1 | c.2398G>C (p.Asp800His) c.2339G>C c.2362G>C (p.Asp788His) c.2113G>C (p.Asp705His) n.2547G>C c.2371G>C (p.Asp791His) | dbSNP gnomAD v4 |
4 | g.6302157G= | CA1435772409 | WFS1 | c.2398G= (p.Asp800=) c.2339G= c.2362G= (p.Asp788=) c.2113G= (p.Asp705=) n.2547G= c.2371G= (p.Asp791=) | |
4 | g.6302157G>T | CA356178439 | WFS1 | c.2398G>T (p.Asp800Tyr) c.2339G>T c.2362G>T (p.Asp788Tyr) c.2113G>T (p.Asp705Tyr) n.2547G>T c.2371G>T (p.Asp791Tyr) | |
4 | g.6302158A>C | CA356178442 | WFS1 | c.2399A>C (p.Asp800Ala) c.2340A>C c.2363A>C (p.Asp788Ala) c.2114A>C (p.Asp705Ala) n.2548A>C c.2372A>C (p.Asp791Ala) | |
4 | g.6302158A>G | CA356178444 | WFS1 | c.2399A>G (p.Asp800Gly) c.2340A>G c.2363A>G (p.Asp788Gly) c.2114A>G (p.Asp705Gly) n.2548A>G c.2372A>G (p.Asp791Gly) | |
4 | g.6302158A>T | CA356178443 | WFS1 | c.2399A>T (p.Asp800Val) c.2340A>T c.2363A>T (p.Asp788Val) c.2114A>T (p.Asp705Val) n.2548A>T c.2372A>T (p.Asp791Val) | |
4 | g.6302159C>A | CA356178445 | WFS1 | c.2400C>A (p.Asp800Glu) c.2341C>A c.2364C>A (p.Asp788Glu) c.2115C>A (p.Asp705Glu) n.2549C>A c.2373C>A (p.Asp791Glu) | |
4 | g.6302159C= | CA1435772410 | WFS1 | c.2400C= (p.Asp800=) c.2341C= c.2364C= (p.Asp788=) c.2115C= (p.Asp705=) n.2549C= c.2373C= (p.Asp791=) | |
4 | g.6302159C>G | CA356178446 | WFS1 | c.2400C>G (p.Asp800Glu) c.2341C>G c.2364C>G (p.Asp788Glu) c.2115C>G (p.Asp705Glu) n.2549C>G c.2373C>G (p.Asp791Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302159C>T | CA2839701 | WFS1 | c.2400C>T (p.Asp800=) c.2341C>T c.2364C>T (p.Asp788=) c.2115C>T (p.Asp705=) n.2549C>T c.2373C>T (p.Asp791=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302160G>A | CA2839702 | WFS1 | c.2401G>A (p.Gly801Ser) c.2342G>A c.2365G>A (p.Gly789Ser) c.2116G>A (p.Gly706Ser) n.2550G>A c.2374G>A (p.Gly792Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302160G>C | CA356178447 | WFS1 | c.2401G>C (p.Gly801Arg) c.2342G>C c.2365G>C (p.Gly789Arg) c.2116G>C (p.Gly706Arg) n.2550G>C c.2374G>C (p.Gly792Arg) | COSMIC |
4 | g.6302160G= | CA1435772411 | WFS1 | c.2401G= (p.Gly801=) c.2342G= c.2365G= (p.Gly789=) c.2116G= (p.Gly706=) n.2550G= c.2374G= (p.Gly792=) | |
4 | g.6302160G>T | CA2839703 | WFS1 | c.2401G>T (p.Gly801Cys) c.2342G>T c.2365G>T (p.Gly789Cys) c.2116G>T (p.Gly706Cys) n.2550G>T c.2374G>T (p.Gly792Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302161G>A | CA356178448 | WFS1 | c.2402G>A (p.Gly801Asp) c.2343G>A c.2366G>A (p.Gly789Asp) c.2117G>A (p.Gly706Asp) n.2551G>A c.2375G>A (p.Gly792Asp) | |
4 | g.6302161G>C | CA2839704 | WFS1 | c.2402G>C (p.Gly801Ala) c.2343G>C c.2366G>C (p.Gly789Ala) c.2117G>C (p.Gly706Ala) n.2551G>C c.2375G>C (p.Gly792Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302161G= | CA1435772413 | WFS1 | c.2402G= (p.Gly801=) c.2343G= c.2366G= (p.Gly789=) c.2117G= (p.Gly706=) n.2551G= c.2375G= (p.Gly792=) | |
4 | g.6302161G>T | CA91797110 | WFS1 | c.2402G>T (p.Gly801Val) c.2343G>T c.2366G>T (p.Gly789Val) c.2117G>T (p.Gly706Val) n.2551G>T c.2375G>T (p.Gly792Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302163_6302166del | CA2578035808 | WFS1 | c.2404_2407del (p.Ser802AlafsTer?) c.2345_2348del c.2368_2371del (p.Ser790AlafsTer?) c.2119_2122del (p.Ser707AlafsTer?) n.2553_2556del c.2377_2380del (p.Ser793AlafsTer?) | gnomAD v4 |
4 | g.6302163_6302168del | CA2554632095 | WFS1 | c.2404_2409del (p.Ser802_Arg803del) c.2345_2350del c.2368_2373del (p.Ser790_Arg791del) c.2119_2124del (p.Ser707_Arg708del) n.2553_2558del c.2377_2382del (p.Ser793_Arg794del) | |
4 | g.6302162C>A | CA438368273 | WFS1 | c.2403C>A (p.Gly801=) c.2344C>A c.2367C>A (p.Gly789=) c.2118C>A (p.Gly706=) n.2552C>A c.2376C>A (p.Gly792=) | |
4 | g.6302162C>G | CA438368274 | WFS1 | c.2403C>G (p.Gly801=) c.2344C>G c.2367C>G (p.Gly789=) c.2118C>G (p.Gly706=) n.2552C>G c.2376C>G (p.Gly792=) | |
4 | g.6302162C>T | CA438368275 | WFS1 | c.2403C>T (p.Gly801=) c.2344C>T c.2367C>T (p.Gly789=) c.2118C>T (p.Gly706=) n.2552C>T c.2376C>T (p.Gly792=) | gnomAD v4 |
4 | g.6302163_6302186del | CA2739270017 | WFS1 | c.2404_2427del (p.Ser802_Asp809del) c.2345_2368del c.2368_2391del (p.Ser790_Asp797del) c.2119_2142del (p.Ser707_Asp714del) n.2553_2576del c.2377_2400del (p.Ser793_Asp800del) | ClinVar |
4 | g.6302163T>A | CA356178449 | WFS1 | c.2404T>A (p.Ser802Thr) c.2345T>A c.2368T>A (p.Ser790Thr) c.2119T>A (p.Ser707Thr) n.2553T>A c.2377T>A (p.Ser793Thr) | |
4 | g.6302163T>C | CA356178450 | WFS1 | c.2404T>C (p.Ser802Pro) c.2345T>C c.2368T>C (p.Ser790Pro) c.2119T>C (p.Ser707Pro) n.2553T>C c.2377T>C (p.Ser793Pro) | |
4 | g.6302163T>G | CA356178451 | WFS1 | c.2404T>G (p.Ser802Ala) c.2345T>G c.2368T>G (p.Ser790Ala) c.2119T>G (p.Ser707Ala) n.2553T>G c.2377T>G (p.Ser793Ala) | |
4 | g.6302164C>A | CA277064 | WFS1 | c.2405C>A (p.Ser802Ter) c.2346C>A c.2369C>A (p.Ser790Ter) c.2120C>A (p.Ser707Ter) n.2554C>A c.2378C>A (p.Ser793Ter) | ClinVar dbSNP |
4 | g.6302164C= | CA1435772416 | WFS1 | c.2405C= (p.Ser802=) c.2346C= c.2369C= (p.Ser790=) c.2120C= (p.Ser707=) n.2554C= c.2378C= (p.Ser793=) | |
4 | g.6302164C>G | CA295582 | WFS1 | c.2405C>G (p.Ser802Trp) c.2346C>G c.2369C>G (p.Ser790Trp) c.2120C>G (p.Ser707Trp) n.2554C>G c.2378C>G (p.Ser793Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302164C>T | CA2839705 | WFS1 | c.2405C>T (p.Ser802Leu) c.2346C>T c.2369C>T (p.Ser790Leu) c.2120C>T (p.Ser707Leu) n.2554C>T c.2378C>T (p.Ser793Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302165G>A | CA2839706 | WFS1 | c.2406G>A (p.Ser802=) c.2347G>A c.2370G>A (p.Ser790=) c.2121G>A (p.Ser707=) n.2555G>A c.2379G>A (p.Ser793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302165G>C | CA2839707 | WFS1 | c.2406G>C (p.Ser802=) c.2347G>C c.2370G>C (p.Ser790=) c.2121G>C (p.Ser707=) n.2555G>C c.2379G>C (p.Ser793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302165G= | CA1435772420 | WFS1 | c.2406G= (p.Ser802=) c.2347G= c.2370G= (p.Ser790=) c.2121G= (p.Ser707=) n.2555G= c.2379G= (p.Ser793=) | |
4 | g.6302165G>T | CA438368276 | WFS1 | c.2406G>T (p.Ser802=) c.2347G>T c.2370G>T (p.Ser790=) c.2121G>T (p.Ser707=) n.2555G>T c.2379G>T (p.Ser793=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302166C>A | CA356178452 | WFS1 | c.2407C>A (p.Arg803Ser) c.2348C>A c.2371C>A (p.Arg791Ser) c.2122C>A (p.Arg708Ser) n.2556C>A c.2380C>A (p.Arg794Ser) | gnomAD v4 |
4 | g.6302166C= | CA1435772421 | WFS1 | c.2407C= (p.Arg803=) c.2348C= c.2371C= (p.Arg791=) c.2122C= (p.Arg708=) n.2556C= c.2380C= (p.Arg794=) | |
4 | g.6302166C>G | CA356178453 | WFS1 | c.2407C>G (p.Arg803Gly) c.2348C>G c.2371C>G (p.Arg791Gly) c.2122C>G (p.Arg708Gly) n.2556C>G c.2380C>G (p.Arg794Gly) | |
4 | g.6302166C>T | CA2839708 | WFS1 | c.2407C>T (p.Arg803Cys) c.2348C>T c.2371C>T (p.Arg791Cys) c.2122C>T (p.Arg708Cys) n.2556C>T c.2380C>T (p.Arg794Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302167G>A | CA10619015 | WFS1 | c.2408G>A (p.Arg803His) c.2349G>A c.2372G>A (p.Arg791His) c.2123G>A (p.Arg708His) n.2557G>A c.2381G>A (p.Arg794His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302167G>C | CA2839709 | WFS1 | c.2408G>C (p.Arg803Pro) c.2349G>C c.2372G>C (p.Arg791Pro) c.2123G>C (p.Arg708Pro) n.2557G>C c.2381G>C (p.Arg794Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302167G= | CA1435772423 | WFS1 | c.2408G= (p.Arg803=) c.2349G= c.2372G= (p.Arg791=) c.2123G= (p.Arg708=) n.2557G= c.2381G= (p.Arg794=) | |
4 | g.6302167G>T | CA356178454 | WFS1 | c.2408G>T (p.Arg803Leu) c.2349G>T c.2372G>T (p.Arg791Leu) c.2123G>T (p.Arg708Leu) n.2557G>T c.2381G>T (p.Arg794Leu) |