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.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.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.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.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.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.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) | |
4 | g.6302168C>A | CA438368277 | WFS1 | c.2409C>A (p.Arg803=) c.2350C>A c.2373C>A (p.Arg791=) c.2124C>A (p.Arg708=) n.2558C>A c.2382C>A (p.Arg794=) | |
4 | g.6302168C>G | CA438368278 | WFS1 | c.2409C>G (p.Arg803=) c.2350C>G c.2373C>G (p.Arg791=) c.2124C>G (p.Arg708=) n.2558C>G c.2382C>G (p.Arg794=) | |
4 | g.6302168C>T | CA438368279 | WFS1 | c.2409C>T (p.Arg803=) c.2350C>T c.2373C>T (p.Arg791=) c.2124C>T (p.Arg708=) n.2558C>T c.2382C>T (p.Arg794=) | ClinVar gnomAD v4 |
4 | g.6302169A>C | CA356178455 | WFS1 | c.2410A>C (p.Ser804Arg) c.2351A>C c.2374A>C (p.Ser792Arg) c.2125A>C (p.Ser709Arg) n.2559A>C c.2383A>C (p.Ser795Arg) | gnomAD v4 |
4 | g.6302169A>G | CA356178456 | WFS1 | c.2410A>G (p.Ser804Gly) c.2351A>G c.2374A>G (p.Ser792Gly) c.2125A>G (p.Ser709Gly) n.2559A>G c.2383A>G (p.Ser795Gly) | gnomAD v4 |
4 | g.6302169A>T | CA356178457 | WFS1 | c.2410A>T (p.Ser804Cys) c.2351A>T c.2374A>T (p.Ser792Cys) c.2125A>T (p.Ser709Cys) n.2559A>T c.2383A>T (p.Ser795Cys) | |
4 | g.6302170G>A | CA356178460 | WFS1 | c.2411G>A (p.Ser804Asn) c.2352G>A c.2375G>A (p.Ser792Asn) c.2126G>A (p.Ser709Asn) n.2560G>A c.2384G>A (p.Ser795Asn) | |
4 | g.6302170G>C | CA356178459 | WFS1 | c.2411G>C (p.Ser804Thr) c.2352G>C c.2375G>C (p.Ser792Thr) c.2126G>C (p.Ser709Thr) n.2560G>C c.2384G>C (p.Ser795Thr) | |
4 | g.6302170G>T | CA356178458 | WFS1 | c.2411G>T (p.Ser804Ile) c.2352G>T c.2375G>T (p.Ser792Ile) c.2126G>T (p.Ser709Ile) n.2560G>T c.2384G>T (p.Ser795Ile) | gnomAD v4 |
4 | g.6302171C>A | CA356178461 | WFS1 | c.2412C>A (p.Ser804Arg) c.2353C>A c.2376C>A (p.Ser792Arg) c.2127C>A (p.Ser709Arg) n.2561C>A c.2385C>A (p.Ser795Arg) | |
4 | g.6302171C= | CA1435772425 | WFS1 | c.2412C= (p.Ser804=) c.2353C= c.2376C= (p.Ser792=) c.2127C= (p.Ser709=) n.2561C= c.2385C= (p.Ser795=) | |
4 | g.6302171C>G | CA356178462 | WFS1 | c.2412C>G (p.Ser804Arg) c.2353C>G c.2376C>G (p.Ser792Arg) c.2127C>G (p.Ser709Arg) n.2561C>G c.2385C>G (p.Ser795Arg) | dbSNP gnomAD v4 |
4 | g.6302171C>T | CA438368280 | WFS1 | c.2412C>T (p.Ser804=) c.2353C>T c.2376C>T (p.Ser792=) c.2127C>T (p.Ser709=) n.2561C>T c.2385C>T (p.Ser795=) | dbSNP gnomAD v4 |
4 | g.6302172C>A | CA356178463 | WFS1 | c.2413C>A (p.Arg805Ser) c.2354C>A c.2377C>A (p.Arg793Ser) c.2128C>A (p.Arg710Ser) n.2562C>A c.2386C>A (p.Arg796Ser) | |
4 | g.6302172C= | CA1435772427 | WFS1 | c.2413C= (p.Arg805=) c.2354C= c.2377C= (p.Arg793=) c.2128C= (p.Arg710=) n.2562C= c.2386C= (p.Arg796=) | |
4 | g.6302172C>G | CA356178464 | WFS1 | c.2413C>G (p.Arg805Gly) c.2354C>G c.2377C>G (p.Arg793Gly) c.2128C>G (p.Arg710Gly) n.2562C>G c.2386C>G (p.Arg796Gly) | |
4 | g.6302172C>T | CA91797127 | WFS1 | c.2413C>T (p.Arg805Cys) c.2354C>T c.2377C>T (p.Arg793Cys) c.2128C>T (p.Arg710Cys) n.2562C>T c.2386C>T (p.Arg796Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302172_6302174delinsCGC | CA1435772428 | WFS1 | c.2413_2415delinsCGC (p.Arg805=) c.2354_2356delinsCGC c.2377_2379delinsCGC (p.Arg793=) c.2128_2130delinsCGC (p.Arg710=) n.2562_2564delinsCGC c.2386_2388delinsCGC (p.Arg796=) | |
4 | g.6302172_6302174delinsGAG | CA91797124 | WFS1 | c.2413_2415delinsGAG (p.Arg805Glu) c.2354_2356delinsGAG c.2377_2379delinsGAG (p.Arg793Glu) c.2128_2130delinsGAG (p.Arg710Glu) n.2562_2564delinsGAG c.2386_2388delinsGAG (p.Arg796Glu) | dbSNP |
4 | g.6302173G>A | CA2839710 | WFS1 | c.2414G>A (p.Arg805His) c.2355G>A c.2378G>A (p.Arg793His) c.2129G>A (p.Arg710His) n.2563G>A c.2387G>A (p.Arg796His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302173G>C | CA356178465 | WFS1 | c.2414G>C (p.Arg805Pro) c.2355G>C c.2378G>C (p.Arg793Pro) c.2129G>C (p.Arg710Pro) n.2563G>C c.2387G>C (p.Arg796Pro) | gnomAD v4 |
4 | g.6302173G= | CA1435772430 | WFS1 | c.2414G= (p.Arg805=) c.2355G= c.2378G= (p.Arg793=) c.2129G= (p.Arg710=) n.2563G= c.2387G= (p.Arg796=) | |
4 | g.6302173G>T | CA356178466 | WFS1 | c.2414G>T (p.Arg805Leu) c.2355G>T c.2378G>T (p.Arg793Leu) c.2129G>T (p.Arg710Leu) n.2563G>T c.2387G>T (p.Arg796Leu) | |
4 | g.6302174C>A | CA438368282 | WFS1 | c.2415C>A (p.Arg805=) c.2356C>A c.2379C>A (p.Arg793=) c.2130C>A (p.Arg710=) n.2564C>A c.2388C>A (p.Arg796=) | |
4 | g.6302174C= | CA1435772431 | WFS1 | c.2415C= (p.Arg805=) c.2356C= c.2379C= (p.Arg793=) c.2130C= (p.Arg710=) n.2564C= c.2388C= (p.Arg796=) | |
4 | g.6302174C>G | CA438368281 | WFS1 | c.2415C>G (p.Arg805=) c.2356C>G c.2379C>G (p.Arg793=) c.2130C>G (p.Arg710=) n.2564C>G c.2388C>G (p.Arg796=) | |
4 | g.6302174C>T | CA2839711 | WFS1 | c.2415C>T (p.Arg805=) c.2356C>T c.2379C>T (p.Arg793=) c.2130C>T (p.Arg710=) n.2564C>T c.2388C>T (p.Arg796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302174_6302177delinsCGAG | CA1435772432 | WFS1 | c.2415_2418delinsCGAG (p.Arg805=) c.2356_2359delinsCGAG c.2379_2382delinsCGAG (p.Arg793=) c.2130_2133delinsCGAG (p.Arg710=) n.2564_2567delinsCGAG c.2388_2391delinsCGAG (p.Arg796=) | |
4 | g.6302175G>A | CA247675 | WFS1 | c.2416G>A (p.Glu806Lys) c.2357G>A c.2380G>A (p.Glu794Lys) c.2131G>A (p.Glu711Lys) n.2565G>A c.2389G>A (p.Glu797Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302175G>C | CA356178467 | WFS1 | c.2416G>C (p.Glu806Gln) c.2357G>C c.2380G>C (p.Glu794Gln) c.2131G>C (p.Glu711Gln) n.2565G>C c.2389G>C (p.Glu797Gln) | |
4 | g.6302175G= | CA1435772434 | WFS1 | c.2416G= (p.Glu806=) c.2357G= c.2380G= (p.Glu794=) c.2131G= (p.Glu711=) n.2565G= c.2389G= (p.Glu797=) | |
4 | g.6302175G>T | CA356178468 | WFS1 | c.2416G>T (p.Glu806Ter) c.2357G>T c.2380G>T (p.Glu794Ter) c.2131G>T (p.Glu711Ter) n.2565G>T c.2389G>T (p.Glu797Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302175_6302176insGGCCGG | CA2526109292 | WFS1 | c.2416_2417insGGCCGG (p.Arg805_Glu806insGlyPro) c.2357_2358insGGCCGG c.2380_2381insGGCCGG (p.Arg793_Glu794insGlyPro) c.2131_2132insGGCCGG (p.Arg710_Glu711insGlyPro) n.2565_2566insGGCCGG c.2389_2390insGGCCGG (p.Arg796_Glu797insGlyPro) | |
4 | g.6302180_6302182dup | CA2669843465 | WFS1 | c.2421_2423dup (p.Glu807_Asp808insGlu) c.2362_2364dup c.2385_2387dup (p.Glu795_Asp796insGlu) c.2136_2138dup (p.Glu712_Asp713insGlu) n.2570_2572dup c.2394_2396dup (p.Glu798_Asp799insGlu) | gnomAD v4 |
4 | g.6302180_6302182del | CA2839712 | WFS1 | c.2421_2423del (p.Glu807del) c.2362_2364del c.2385_2387del (p.Glu795del) c.2136_2138del (p.Glu712del) n.2570_2572del c.2394_2396del (p.Glu798del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302176A= | CA1435772436 | WFS1 | c.2417A= (p.Glu806=) c.2358A= c.2381A= (p.Glu794=) c.2132A= (p.Glu711=) n.2566A= c.2390A= (p.Glu797=) | |
4 | g.6302176A>C | CA356178470 | WFS1 | c.2417A>C (p.Glu806Ala) c.2358A>C c.2381A>C (p.Glu794Ala) c.2132A>C (p.Glu711Ala) n.2566A>C c.2390A>C (p.Glu797Ala) | |
4 | g.6302176A>G | CA2839713 | WFS1 | c.2417A>G (p.Glu806Gly) c.2358A>G c.2381A>G (p.Glu794Gly) c.2132A>G (p.Glu711Gly) n.2566A>G c.2390A>G (p.Glu797Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302176A>T | CA356178469 | WFS1 | c.2417A>T (p.Glu806Val) c.2358A>T c.2381A>T (p.Glu794Val) c.2132A>T (p.Glu711Val) n.2566A>T c.2390A>T (p.Glu797Val) | |
4 | g.6302177G>A | CA438368283 | WFS1 | c.2418G>A (p.Glu806=) c.2359G>A c.2382G>A (p.Glu794=) c.2133G>A (p.Glu711=) n.2567G>A c.2391G>A (p.Glu797=) | |
4 | g.6302177G>C | CA356178471 | WFS1 | c.2418G>C (p.Glu806Asp) c.2359G>C c.2382G>C (p.Glu794Asp) c.2133G>C (p.Glu711Asp) n.2567G>C c.2391G>C (p.Glu797Asp) | gnomAD v4 |
4 | g.6302177G>T | CA356178472 | WFS1 | c.2418G>T (p.Glu806Asp) c.2359G>T c.2382G>T (p.Glu794Asp) c.2133G>T (p.Glu711Asp) n.2567G>T c.2391G>T (p.Glu797Asp) | |
4 | g.6302177_6302191dup | CA549707932 | WFS1 | c.2418_2432dup (p.Thr811_Lys812insGluAspAspValThr) c.2359_2373dup c.2382_2396dup (p.Thr799_Lys800insGluAspAspValThr) c.2133_2147dup (p.Thr716_Lys717insGluAspAspValThr) n.2567_2581dup c.2391_2405dup (p.Thr802_Lys803insGluAspAspValThr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302178G>A | CA2839714 | WFS1 | c.2419G>A (p.Glu807Lys) c.2360G>A c.2383G>A (p.Glu795Lys) c.2134G>A (p.Glu712Lys) n.2568G>A c.2392G>A (p.Glu798Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302178G>C | CA356178473 | WFS1 | c.2419G>C (p.Glu807Gln) c.2360G>C c.2383G>C (p.Glu795Gln) c.2134G>C (p.Glu712Gln) n.2568G>C c.2392G>C (p.Glu798Gln) | |
4 | g.6302178G= | CA1435772438 | WFS1 | c.2419G= (p.Glu807=) c.2360G= c.2383G= (p.Glu795=) c.2134G= (p.Glu712=) n.2568G= c.2392G= (p.Glu798=) | |
4 | g.6302178G>T | CA356178474 | WFS1 | c.2419G>T (p.Glu807Ter) c.2360G>T c.2383G>T (p.Glu795Ter) c.2134G>T (p.Glu712Ter) n.2568G>T c.2392G>T (p.Glu798Ter) | |
4 | g.6302178_6302192dup | CA2760271235 | WFS1 | c.2419_2433dup (p.Thr811_Lys812insGluAspAspValThr) c.2360_2374dup c.2383_2397dup (p.Thr799_Lys800insGluAspAspValThr) c.2134_2148dup (p.Thr716_Lys717insGluAspAspValThr) n.2568_2582dup c.2392_2406dup (p.Thr802_Lys803insGluAspAspValThr) | |
4 | g.6302179A>C | CA356178475 | WFS1 | c.2420A>C (p.Glu807Ala) c.2361A>C c.2384A>C (p.Glu795Ala) c.2135A>C (p.Glu712Ala) n.2569A>C c.2393A>C (p.Glu798Ala) | |
4 | g.6302179A>G | CA356178476 | WFS1 | c.2420A>G (p.Glu807Gly) c.2361A>G c.2384A>G (p.Glu795Gly) c.2135A>G (p.Glu712Gly) n.2569A>G c.2393A>G (p.Glu798Gly) | gnomAD v4 |
4 | g.6302179A>T | CA356178477 | WFS1 | c.2420A>T (p.Glu807Val) c.2361A>T c.2384A>T (p.Glu795Val) c.2135A>T (p.Glu712Val) n.2569A>T c.2393A>T (p.Glu798Val) | |
4 | g.6302180G>A | CA2839715 | WFS1 | c.2421G>A (p.Glu807=) c.2362G>A c.2385G>A (p.Glu795=) c.2136G>A (p.Glu712=) n.2570G>A c.2394G>A (p.Glu798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302180G>C | CA179679 | WFS1 | c.2421G>C (p.Glu807Asp) c.2362G>C c.2385G>C (p.Glu795Asp) c.2136G>C (p.Glu712Asp) n.2570G>C c.2394G>C (p.Glu798Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302180G= | CA1435772439 | WFS1 | c.2421G= (p.Glu807=) c.2362G= c.2385G= (p.Glu795=) c.2136G= (p.Glu712=) n.2570G= c.2394G= (p.Glu798=) | |
4 | g.6302180G>T | CA356178478 | WFS1 | c.2421G>T (p.Glu807Asp) c.2362G>T c.2385G>T (p.Glu795Asp) c.2136G>T (p.Glu712Asp) n.2570G>T c.2394G>T (p.Glu798Asp) | |
4 | g.6302180_6302183delinsGGAC | CA1435772440 | WFS1 | c.2421_2424delinsGGAC (p.Glu807=) c.2362_2365delinsGGAC c.2385_2388delinsGGAC (p.Glu795=) c.2136_2139delinsGGAC (p.Glu712=) n.2570_2573delinsGGAC c.2394_2397delinsGGAC (p.Glu798=) | |
4 | g.6302180_6302185delinsCGACGT | CA2499217326 | WFS1 | c.2421_2426delinsCGACGT (p.Glu807_Asp809delinsAspAspVal) c.2362_2367delinsCGACGT c.2385_2390delinsCGACGT (p.Glu795_Asp797delinsAspAspVal) c.2136_2141delinsCGACGT (p.Glu712_Asp714delinsAspAspVal) n.2570_2575delinsCGACGT c.2394_2399delinsCGACGT (p.Glu798_Asp800delinsAspAspVal) | ClinVar dbSNP |
4 | g.6302181G>A | CA356178479 | WFS1 | c.2422G>A (p.Asp808Asn) c.2363G>A c.2386G>A (p.Asp796Asn) c.2137G>A (p.Asp713Asn) n.2571G>A c.2395G>A (p.Asp799Asn) | |
4 | g.6302181G>C | CA356178480 | WFS1 | c.2422G>C (p.Asp808His) c.2363G>C c.2386G>C (p.Asp796His) c.2137G>C (p.Asp713His) n.2571G>C c.2395G>C (p.Asp799His) | |
4 | g.6302181G= | CA1435772443 | WFS1 | c.2422G= (p.Asp808=) c.2363G= c.2386G= (p.Asp796=) c.2137G= (p.Asp713=) n.2571G= c.2395G= (p.Asp799=) | |
4 | g.6302181G>T | CA356178481 | WFS1 | c.2422G>T (p.Asp808Tyr) c.2363G>T c.2386G>T (p.Asp796Tyr) c.2137G>T (p.Asp713Tyr) n.2571G>T c.2395G>T (p.Asp799Tyr) | dbSNP |
4 | g.6302185_6302187dup | CA136352 | WFS1 | c.2426_2428dup (p.Asp809_Val810insAsp) c.2367_2369dup c.2390_2392dup (p.Asp797_Val798insAsp) c.2141_2143dup (p.Asp714_Val715insAsp) n.2575_2577dup c.2399_2401dup (p.Asp800_Val801insAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302185_6302187del | CA2839716 | WFS1 | c.2426_2428del (p.Asp809del) c.2367_2369del c.2390_2392del (p.Asp797del) c.2141_2143del (p.Asp714del) n.2575_2577del c.2399_2401del (p.Asp800del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302182A>C | CA356178484 | WFS1 | c.2423A>C (p.Asp808Ala) c.2364A>C c.2387A>C (p.Asp796Ala) c.2138A>C (p.Asp713Ala) n.2572A>C c.2396A>C (p.Asp799Ala) | |
4 | g.6302182A>G | CA356178483 | WFS1 | c.2423A>G (p.Asp808Gly) c.2364A>G c.2387A>G (p.Asp796Gly) c.2138A>G (p.Asp713Gly) n.2572A>G c.2396A>G (p.Asp799Gly) | |
4 | g.6302182A>T | CA356178482 | WFS1 | c.2423A>T (p.Asp808Val) c.2364A>T c.2387A>T (p.Asp796Val) c.2138A>T (p.Asp713Val) n.2572A>T c.2396A>T (p.Asp799Val) | |
4 | g.6302183C>A | CA356178485 | WFS1 | c.2424C>A (p.Asp808Glu) c.2365C>A c.2388C>A (p.Asp796Glu) c.2139C>A (p.Asp713Glu) n.2573C>A c.2397C>A (p.Asp799Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302183C= | CA1435772445 | WFS1 | c.2424C= (p.Asp808=) c.2365C= c.2388C= (p.Asp796=) c.2139C= (p.Asp713=) n.2573C= c.2397C= (p.Asp799=) | |
4 | g.6302183C>G | CA91797145 | WFS1 | c.2424C>G (p.Asp808Glu) c.2365C>G c.2388C>G (p.Asp796Glu) c.2139C>G (p.Asp713Glu) n.2573C>G c.2397C>G (p.Asp799Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302183C>T | CA2839717 | WFS1 | c.2424C>T (p.Asp808=) c.2365C>T c.2388C>T (p.Asp796=) c.2139C>T (p.Asp713=) n.2573C>T c.2397C>T (p.Asp799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302184G>A | CA356178487 | WFS1 | c.2425G>A (p.Asp809Asn) c.2366G>A c.2389G>A (p.Asp797Asn) c.2140G>A (p.Asp714Asn) n.2574G>A c.2398G>A (p.Asp800Asn) | ClinVar dbSNP |
4 | g.6302184G>C | CA356178488 | WFS1 | c.2425G>C (p.Asp809His) c.2366G>C c.2389G>C (p.Asp797His) c.2140G>C (p.Asp714His) n.2574G>C c.2398G>C (p.Asp800His) | |
4 | g.6302184G= | CA1435772447 | WFS1 | c.2425G= (p.Asp809=) c.2366G= c.2389G= (p.Asp797=) c.2140G= (p.Asp714=) n.2574G= c.2398G= (p.Asp800=) | |
4 | g.6302184G>T | CA356178486 | WFS1 | c.2425G>T (p.Asp809Tyr) c.2366G>T c.2389G>T (p.Asp797Tyr) c.2140G>T (p.Asp714Tyr) n.2574G>T c.2398G>T (p.Asp800Tyr) | |
4 | g.6302185A= | CA1435772449 | WFS1 | c.2426A= (p.Asp809=) c.2367A= c.2390A= (p.Asp797=) c.2141A= (p.Asp714=) n.2575A= c.2399A= (p.Asp800=) | |
4 | g.6302185A>C | CA356178489 | WFS1 | c.2426A>C (p.Asp809Ala) c.2367A>C c.2390A>C (p.Asp797Ala) c.2141A>C (p.Asp714Ala) n.2575A>C c.2399A>C (p.Asp800Ala) | |
4 | g.6302185A>G | CA356178490 | WFS1 | c.2426A>G (p.Asp809Gly) c.2367A>G c.2390A>G (p.Asp797Gly) c.2141A>G (p.Asp714Gly) n.2575A>G c.2399A>G (p.Asp800Gly) | |
4 | g.6302185A>T | CA356178491 | WFS1 | c.2426A>T (p.Asp809Val) c.2367A>T c.2390A>T (p.Asp797Val) c.2141A>T (p.Asp714Val) n.2575A>T c.2399A>T (p.Asp800Val) | ClinVar |
4 | g.6302185_6302186insACG | CA325474 | WFS1 | c.2426_2427insACG (p.Asp809delinsGluArg) c.2367_2368insACG c.2390_2391insACG (p.Asp797delinsGluArg) c.2141_2142insACG (p.Asp714delinsGluArg) n.2575_2576insACG c.2399_2400insACG (p.Asp800delinsGluArg) | ClinVar dbSNP |
4 | g.6302186C>A | CA356178492 | WFS1 | c.2427C>A (p.Asp809Glu) c.2368C>A c.2391C>A (p.Asp797Glu) c.2142C>A (p.Asp714Glu) n.2576C>A c.2400C>A (p.Asp800Glu) | |
4 | g.6302186C= | CA1435772452 | WFS1 | c.2427C= (p.Asp809=) c.2368C= c.2391C= (p.Asp797=) c.2142C= (p.Asp714=) n.2576C= c.2400C= (p.Asp800=) | |
4 | g.6302186C>G | CA356178493 | WFS1 | c.2427C>G (p.Asp809Glu) c.2368C>G c.2391C>G (p.Asp797Glu) c.2142C>G (p.Asp714Glu) n.2576C>G c.2400C>G (p.Asp800Glu) | |
4 | g.6302186C>T | CA2839718 | WFS1 | c.2427C>T (p.Asp809=) c.2368C>T c.2391C>T (p.Asp797=) c.2142C>T (p.Asp714=) n.2576C>T c.2400C>T (p.Asp800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302187G>A | CA2839719 | WFS1 | c.2428G>A (p.Val810Ile) c.2369G>A c.2392G>A (p.Val798Ile) c.2143G>A (p.Val715Ile) n.2577G>A c.2401G>A (p.Val801Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302187G>C | CA2839720 | WFS1 | c.2428G>C (p.Val810Leu) c.2369G>C c.2392G>C (p.Val798Leu) c.2143G>C (p.Val715Leu) n.2577G>C c.2401G>C (p.Val801Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302187G= | CA1435772453 | WFS1 | c.2428G= (p.Val810=) c.2369G= c.2392G= (p.Val798=) c.2143G= (p.Val715=) n.2577G= c.2401G= (p.Val801=) | |
4 | g.6302187G>T | CA356178494 | WFS1 | c.2428G>T (p.Val810Phe) c.2369G>T c.2392G>T (p.Val798Phe) c.2143G>T (p.Val715Phe) n.2577G>T c.2401G>T (p.Val801Phe) | |
4 | g.6302188_6302218del | CA913107300 | WFS1 | c.2429_2459del (p.Val810AlafsTer?) c.2370_2400del c.2393_2423del (p.Val798AlafsTer?) c.2144_2174del (p.Val715AlafsTer?) n.2578_2608del c.2402_2432del (p.Val801AlafsTer?) | |
4 | g.6302187_6302188insGAC | CA2586973651 | WFS1 | c.2428_2429insGAC (p.Val810delinsGlyLeu) c.2369_2370insGAC c.2392_2393insGAC (p.Val798delinsGlyLeu) c.2143_2144insGAC (p.Val715delinsGlyLeu) n.2577_2578insGAC c.2401_2402insGAC (p.Val801delinsGlyLeu) | |
4 | g.6302188T>A | CA356178495 | WFS1 | c.2429T>A (p.Val810Asp) c.2370T>A c.2393T>A (p.Val798Asp) c.2144T>A (p.Val715Asp) n.2578T>A c.2402T>A (p.Val801Asp) | |
4 | g.6302188T>C | CA356178496 | WFS1 | c.2429T>C (p.Val810Ala) c.2370T>C c.2393T>C (p.Val798Ala) c.2144T>C (p.Val715Ala) n.2578T>C c.2402T>C (p.Val801Ala) | |
4 | g.6302188T>G | CA356178497 | WFS1 | c.2429T>G (p.Val810Gly) c.2370T>G c.2393T>G (p.Val798Gly) c.2144T>G (p.Val715Gly) n.2578T>G c.2402T>G (p.Val801Gly) | |
4 | g.6302189C>A | CA438368284 | WFS1 | c.2430C>A (p.Val810=) c.2371C>A c.2394C>A (p.Val798=) c.2145C>A (p.Val715=) n.2579C>A c.2403C>A (p.Val801=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302189C= | CA1435772455 | WFS1 | c.2430C= (p.Val810=) c.2371C= c.2394C= (p.Val798=) c.2145C= (p.Val715=) n.2579C= c.2403C= (p.Val801=) | |
4 | g.6302189C>G | CA438368285 | WFS1 | c.2430C>G (p.Val810=) c.2371C>G c.2394C>G (p.Val798=) c.2145C>G (p.Val715=) n.2579C>G c.2403C>G (p.Val801=) | dbSNP gnomAD v4 |
4 | g.6302189C>T | CA438368286 | WFS1 | c.2430C>T (p.Val810=) c.2371C>T c.2394C>T (p.Val798=) c.2145C>T (p.Val715=) n.2579C>T c.2403C>T (p.Val801=) | ClinVar gnomAD v4 |
4 | g.6302190A= | CA1435772456 | WFS1 | c.2431A= (p.Thr811=) c.2372A= c.2395A= (p.Thr799=) c.2146A= (p.Thr716=) n.2580A= c.2404A= (p.Thr802=) | |
4 | g.6302190A>C | CA356178498 | WFS1 | c.2431A>C (p.Thr811Pro) c.2372A>C c.2395A>C (p.Thr799Pro) c.2146A>C (p.Thr716Pro) n.2580A>C c.2404A>C (p.Thr802Pro) | |
4 | g.6302190A>G | CA356178499 | WFS1 | c.2431A>G (p.Thr811Ala) c.2372A>G c.2395A>G (p.Thr799Ala) c.2146A>G (p.Thr716Ala) n.2580A>G c.2404A>G (p.Thr802Ala) | |
4 | g.6302190A>T | CA356178500 | WFS1 | c.2431A>T (p.Thr811Ser) c.2372A>T c.2395A>T (p.Thr799Ser) c.2146A>T (p.Thr716Ser) n.2580A>T c.2404A>T (p.Thr802Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302191C>A | CA356178501 | WFS1 | c.2432C>A (p.Thr811Asn) c.2373C>A c.2396C>A (p.Thr799Asn) c.2147C>A (p.Thr716Asn) n.2581C>A c.2405C>A (p.Thr802Asn) | |
4 | g.6302191C>G | CA356178502 | WFS1 | c.2432C>G (p.Thr811Ser) c.2373C>G c.2396C>G (p.Thr799Ser) c.2147C>G (p.Thr716Ser) n.2581C>G c.2405C>G (p.Thr802Ser) | gnomAD v4 |
4 | g.6302191C>T | CA356178503 | WFS1 | c.2432C>T (p.Thr811Ile) c.2373C>T c.2396C>T (p.Thr799Ile) c.2147C>T (p.Thr716Ile) n.2581C>T c.2405C>T (p.Thr802Ile) | |
4 | g.6302192C>A | CA438368288 | WFS1 | c.2433C>A (p.Thr811=) c.2374C>A c.2397C>A (p.Thr799=) c.2148C>A (p.Thr716=) n.2582C>A c.2406C>A (p.Thr802=) | gnomAD v4 |
4 | g.6302192C= | CA1435772458 | WFS1 | c.2433C= (p.Thr811=) c.2374C= c.2397C= (p.Thr799=) c.2148C= (p.Thr716=) n.2582C= c.2406C= (p.Thr802=) | |
4 | g.6302192C>G | CA2839721 | WFS1 | c.2433C>G (p.Thr811=) c.2374C>G c.2397C>G (p.Thr799=) c.2148C>G (p.Thr716=) n.2582C>G c.2406C>G (p.Thr802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302192C>T | CA438368287 | WFS1 | c.2433C>T (p.Thr811=) c.2374C>T c.2397C>T (p.Thr799=) c.2148C>T (p.Thr716=) n.2582C>T c.2406C>T (p.Thr802=) | dbSNP |
4 | g.6302193A= | CA1435772461 | WFS1 | c.2434A= (p.Lys812=) c.2375A= c.2398A= (p.Lys800=) c.2149A= (p.Lys717=) n.2583A= c.2407A= (p.Lys803=) | |
4 | g.6302193A>C | CA356178505 | WFS1 | c.2434A>C (p.Lys812Gln) c.2375A>C c.2398A>C (p.Lys800Gln) c.2149A>C (p.Lys717Gln) n.2583A>C c.2407A>C (p.Lys803Gln) | |
4 | g.6302193A>G | CA321406 | WFS1 | c.2434A>G (p.Lys812Glu) c.2375A>G c.2398A>G (p.Lys800Glu) c.2149A>G (p.Lys717Glu) n.2583A>G c.2407A>G (p.Lys803Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302193A>T | CA356178504 | WFS1 | c.2434A>T (p.Lys812Ter) c.2375A>T c.2398A>T (p.Lys800Ter) c.2149A>T (p.Lys717Ter) n.2583A>T c.2407A>T (p.Lys803Ter) | |
4 | g.6302194A>C | CA356178506 | WFS1 | c.2435A>C (p.Lys812Thr) c.2376A>C c.2399A>C (p.Lys800Thr) c.2150A>C (p.Lys717Thr) n.2584A>C c.2408A>C (p.Lys803Thr) | |
4 | g.6302194A>G | CA356178507 | WFS1 | c.2435A>G (p.Lys812Arg) c.2376A>G c.2399A>G (p.Lys800Arg) c.2150A>G (p.Lys717Arg) n.2584A>G c.2408A>G (p.Lys803Arg) | |
4 | g.6302194A>T | CA356178508 | WFS1 | c.2435A>T (p.Lys812Met) c.2376A>T c.2399A>T (p.Lys800Met) c.2150A>T (p.Lys717Met) n.2584A>T c.2408A>T (p.Lys803Met) | |
4 | g.6302195G>A | CA438368289 | WFS1 | c.2436G>A (p.Lys812=) c.2377G>A c.2400G>A (p.Lys800=) c.2151G>A (p.Lys717=) n.2585G>A c.2409G>A (p.Lys803=) | |
4 | g.6302195G>C | CA356178509 | WFS1 | c.2436G>C (p.Lys812Asn) c.2377G>C c.2400G>C (p.Lys800Asn) c.2151G>C (p.Lys717Asn) n.2585G>C c.2409G>C (p.Lys803Asn) | |
4 | g.6302195G>T | CA356178510 | WFS1 | c.2436G>T (p.Lys812Asn) c.2377G>T c.2400G>T (p.Lys800Asn) c.2151G>T (p.Lys717Asn) n.2585G>T c.2409G>T (p.Lys803Asn) | |
4 | g.6302196G>A | CA356178512 | WFS1 | c.2437G>A (p.Asp813Asn) c.2378G>A c.2401G>A (p.Asp801Asn) c.2152G>A (p.Asp718Asn) n.2586G>A c.2410G>A (p.Asp804Asn) | |
4 | g.6302196G>C | CA356178511 | WFS1 | c.2437G>C (p.Asp813His) c.2378G>C c.2401G>C (p.Asp801His) c.2152G>C (p.Asp718His) n.2586G>C c.2410G>C (p.Asp804His) | |
4 | g.6302196G= | CA1435772462 | WFS1 | c.2437G= (p.Asp813=) c.2378G= c.2401G= (p.Asp801=) c.2152G= (p.Asp718=) n.2586G= c.2410G= (p.Asp804=) | |
4 | g.6302196G>T | CA2839722 | WFS1 | c.2437G>T (p.Asp813Tyr) c.2378G>T c.2401G>T (p.Asp801Tyr) c.2152G>T (p.Asp718Tyr) n.2586G>T c.2410G>T (p.Asp804Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302197A>C | CA356178513 | WFS1 | c.2438A>C (p.Asp813Ala) c.2379A>C c.2402A>C (p.Asp801Ala) c.2153A>C (p.Asp718Ala) n.2587A>C c.2411A>C (p.Asp804Ala) | |
4 | g.6302197A>G | CA356178514 | WFS1 | c.2438A>G (p.Asp813Gly) c.2379A>G c.2402A>G (p.Asp801Gly) c.2153A>G (p.Asp718Gly) n.2587A>G c.2411A>G (p.Asp804Gly) | |
4 | g.6302197A>T | CA356178515 | WFS1 | c.2438A>T (p.Asp813Val) c.2379A>T c.2402A>T (p.Asp801Val) c.2153A>T (p.Asp718Val) n.2587A>T c.2411A>T (p.Asp804Val) | |
4 | g.6302198C>A | CA356178516 | WFS1 | c.2439C>A (p.Asp813Glu) c.2380C>A c.2403C>A (p.Asp801Glu) c.2154C>A (p.Asp718Glu) n.2588C>A c.2412C>A (p.Asp804Glu) | |
4 | g.6302198C>G | CA356178517 | WFS1 | c.2439C>G (p.Asp813Glu) c.2380C>G c.2403C>G (p.Asp801Glu) c.2154C>G (p.Asp718Glu) n.2588C>G c.2412C>G (p.Asp804Glu) | |
4 | g.6302198C>T | CA438368290 | WFS1 | c.2439C>T (p.Asp813=) c.2380C>T c.2403C>T (p.Asp801=) c.2154C>T (p.Asp718=) n.2588C>T c.2412C>T (p.Asp804=) | |
4 | g.6302199A= | CA1435772464 | WFS1 | c.2440A= (p.Ile814=) c.2381A= c.2404A= (p.Ile802=) c.2155A= (p.Ile719=) n.2589A= c.2413A= (p.Ile805=) | |
4 | g.6302199A>C | CA356178518 | WFS1 | c.2440A>C (p.Ile814Leu) c.2381A>C c.2404A>C (p.Ile802Leu) c.2155A>C (p.Ile719Leu) n.2589A>C c.2413A>C (p.Ile805Leu) | |
4 | g.6302199A>G | CA2839723 | WFS1 | c.2440A>G (p.Ile814Val) c.2381A>G c.2404A>G (p.Ile802Val) c.2155A>G (p.Ile719Val) n.2589A>G c.2413A>G (p.Ile805Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302199A>T | CA356178519 | WFS1 | c.2440A>T (p.Ile814Phe) c.2381A>T c.2404A>T (p.Ile802Phe) c.2155A>T (p.Ile719Phe) n.2589A>T c.2413A>T (p.Ile805Phe) |