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.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) |