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.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=) |