Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.48145033T>A | CA479459515 | PFKM | c.2217T>A (p.Gly739=) c.2208T>A (p.Gly736=) c.1995T>A (p.Gly665=) c.1737T>A (p.Gly579=) c.2304T>A (p.Gly768=) n.2319T>A c.*2263T>A (n.*2263T>A) c.1902T>A (p.Gly634=) c.271T>A c.2211T>A (p.Gly737=) c.2139T>A (p.Gly713=) c.2019T>A (p.Gly673=) c.1908T>A (p.Gly636=) c.1869T>A (p.Gly623=) c.1845T>A (p.Gly615=) n.2432T>A n.3068T>A n.2358T>A n.2587T>A n.2335T>A n.2261T>A c.2115T>A (p.Gly705=) c.2094T>A (p.Gly698=) n.2298T>A n.2224T>A n.2453T>A n.2201T>A n.2127T>A | |
12 | g.48145033T>C | CA236519702 | PFKM | c.2217T>C (p.Gly739=) c.2208T>C (p.Gly736=) c.1995T>C (p.Gly665=) c.1737T>C (p.Gly579=) c.2304T>C (p.Gly768=) n.2319T>C c.*2263T>C (n.*2263T>C) c.1902T>C (p.Gly634=) c.271T>C c.2211T>C (p.Gly737=) c.2139T>C (p.Gly713=) c.2019T>C (p.Gly673=) c.1908T>C (p.Gly636=) c.1869T>C (p.Gly623=) c.1845T>C (p.Gly615=) n.2432T>C n.3068T>C n.2358T>C n.2587T>C n.2335T>C n.2261T>C c.2115T>C (p.Gly705=) c.2094T>C (p.Gly698=) n.2298T>C n.2224T>C n.2453T>C n.2201T>C n.2127T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145033T>G | CA479459513 | PFKM | c.2217T>G (p.Gly739=) c.2208T>G (p.Gly736=) c.1995T>G (p.Gly665=) c.1737T>G (p.Gly579=) c.2304T>G (p.Gly768=) n.2319T>G c.*2263T>G (n.*2263T>G) c.1902T>G (p.Gly634=) c.271T>G c.2211T>G (p.Gly737=) c.2139T>G (p.Gly713=) c.2019T>G (p.Gly673=) c.1908T>G (p.Gly636=) c.1869T>G (p.Gly623=) c.1845T>G (p.Gly615=) n.2432T>G n.3068T>G n.2358T>G n.2587T>G n.2335T>G n.2261T>G c.2115T>G (p.Gly705=) c.2094T>G (p.Gly698=) n.2298T>G n.2224T>G n.2453T>G n.2201T>G n.2127T>G | |
12 | g.48145033T= | CA2034544873 | PFKM | c.2217T= (p.Gly739=) c.2208T= (p.Gly736=) c.1995T= (p.Gly665=) c.1737T= (p.Gly579=) c.2304T= (p.Gly768=) n.2319T= c.*2263T= (n.*2263T=) c.1902T= (p.Gly634=) c.271T= c.2211T= (p.Gly737=) c.2139T= (p.Gly713=) c.2019T= (p.Gly673=) c.1908T= (p.Gly636=) c.1869T= (p.Gly623=) c.1845T= (p.Gly615=) n.2432T= n.3068T= n.2358T= n.2587T= n.2335T= n.2261T= c.2115T= (p.Gly705=) c.2094T= (p.Gly698=) n.2298T= n.2224T= n.2453T= n.2201T= n.2127T= | |
12 | g.48145034G>A | CA384555695 | PFKM | c.2218G>A (p.Gly740Arg) c.2209G>A (p.Gly737Arg) c.1996G>A (p.Gly666Arg) c.1738G>A (p.Gly580Arg) c.2305G>A (p.Gly769Arg) n.2320G>A c.*2264G>A (n.*2264G>A) c.1903G>A (p.Gly635Arg) c.272G>A c.2212G>A (p.Gly738Arg) c.2140G>A (p.Gly714Arg) c.2020G>A (p.Gly674Arg) c.1909G>A (p.Gly637Arg) c.1870G>A (p.Gly624Arg) c.1846G>A (p.Gly616Arg) n.2433G>A n.3069G>A n.2359G>A n.2588G>A n.2336G>A n.2262G>A c.2116G>A (p.Gly706Arg) c.2095G>A (p.Gly699Arg) n.2299G>A n.2225G>A n.2454G>A n.2202G>A n.2128G>A | |
12 | g.48145034G>C | CA384555697 | PFKM | c.2218G>C (p.Gly740Arg) c.2209G>C (p.Gly737Arg) c.1996G>C (p.Gly666Arg) c.1738G>C (p.Gly580Arg) c.2305G>C (p.Gly769Arg) n.2320G>C c.*2264G>C (n.*2264G>C) c.1903G>C (p.Gly635Arg) c.272G>C c.2212G>C (p.Gly738Arg) c.2140G>C (p.Gly714Arg) c.2020G>C (p.Gly674Arg) c.1909G>C (p.Gly637Arg) c.1870G>C (p.Gly624Arg) c.1846G>C (p.Gly616Arg) n.2433G>C n.3069G>C n.2359G>C n.2588G>C n.2336G>C n.2262G>C c.2116G>C (p.Gly706Arg) c.2095G>C (p.Gly699Arg) n.2299G>C n.2225G>C n.2454G>C n.2202G>C n.2128G>C | |
12 | g.48145034G>T | CA384555699 | PFKM | c.2218G>T (p.Gly740Trp) c.2209G>T (p.Gly737Trp) c.1996G>T (p.Gly666Trp) c.1738G>T (p.Gly580Trp) c.2305G>T (p.Gly769Trp) n.2320G>T c.*2264G>T (n.*2264G>T) c.1903G>T (p.Gly635Trp) c.272G>T c.2212G>T (p.Gly738Trp) c.2140G>T (p.Gly714Trp) c.2020G>T (p.Gly674Trp) c.1909G>T (p.Gly637Trp) c.1870G>T (p.Gly624Trp) c.1846G>T (p.Gly616Trp) n.2433G>T n.3069G>T n.2359G>T n.2588G>T n.2336G>T n.2262G>T c.2116G>T (p.Gly706Trp) c.2095G>T (p.Gly699Trp) n.2299G>T n.2225G>T n.2454G>T n.2202G>T n.2128G>T | |
12 | g.48145035G>A | CA384555701 | PFKM | c.2219G>A (p.Gly740Glu) c.2210G>A (p.Gly737Glu) c.1997G>A (p.Gly666Glu) c.1739G>A (p.Gly580Glu) c.2306G>A (p.Gly769Glu) n.2321G>A c.*2265G>A (n.*2265G>A) c.1904G>A (p.Gly635Glu) c.273G>A c.2213G>A (p.Gly738Glu) c.2141G>A (p.Gly714Glu) c.2021G>A (p.Gly674Glu) c.1910G>A (p.Gly637Glu) c.1871G>A (p.Gly624Glu) c.1847G>A (p.Gly616Glu) n.2434G>A n.3070G>A n.2360G>A n.2589G>A n.2337G>A n.2263G>A c.2117G>A (p.Gly706Glu) c.2096G>A (p.Gly699Glu) n.2300G>A n.2226G>A n.2455G>A n.2203G>A n.2129G>A | |
12 | g.48145035G>C | CA384555703 | PFKM | c.2219G>C (p.Gly740Ala) c.2210G>C (p.Gly737Ala) c.1997G>C (p.Gly666Ala) c.1739G>C (p.Gly580Ala) c.2306G>C (p.Gly769Ala) n.2321G>C c.*2265G>C (n.*2265G>C) c.1904G>C (p.Gly635Ala) c.273G>C c.2213G>C (p.Gly738Ala) c.2141G>C (p.Gly714Ala) c.2021G>C (p.Gly674Ala) c.1910G>C (p.Gly637Ala) c.1871G>C (p.Gly624Ala) c.1847G>C (p.Gly616Ala) n.2434G>C n.3070G>C n.2360G>C n.2589G>C n.2337G>C n.2263G>C c.2117G>C (p.Gly706Ala) c.2096G>C (p.Gly699Ala) n.2300G>C n.2226G>C n.2455G>C n.2203G>C n.2129G>C | |
12 | g.48145035G>T | CA384555705 | PFKM | c.2219G>T (p.Gly740Val) c.2210G>T (p.Gly737Val) c.1997G>T (p.Gly666Val) c.1739G>T (p.Gly580Val) c.2306G>T (p.Gly769Val) n.2321G>T c.*2265G>T (n.*2265G>T) c.1904G>T (p.Gly635Val) c.273G>T c.2213G>T (p.Gly738Val) c.2141G>T (p.Gly714Val) c.2021G>T (p.Gly674Val) c.1910G>T (p.Gly637Val) c.1871G>T (p.Gly624Val) c.1847G>T (p.Gly616Val) n.2434G>T n.3070G>T n.2360G>T n.2589G>T n.2337G>T n.2263G>T c.2117G>T (p.Gly706Val) c.2096G>T (p.Gly699Val) n.2300G>T n.2226G>T n.2455G>T n.2203G>T n.2129G>T | |
12 | g.48145036G>A | CA479459533 | PFKM | c.2220G>A (p.Gly740=) c.2211G>A (p.Gly737=) c.1998G>A (p.Gly666=) c.1740G>A (p.Gly580=) c.2307G>A (p.Gly769=) n.2322G>A c.*2266G>A (n.*2266G>A) c.1905G>A (p.Gly635=) c.274G>A c.2214G>A (p.Gly738=) c.2142G>A (p.Gly714=) c.2022G>A (p.Gly674=) c.1911G>A (p.Gly637=) c.1872G>A (p.Gly624=) c.1848G>A (p.Gly616=) n.2435G>A n.3071G>A n.2361G>A n.2590G>A n.2338G>A n.2264G>A c.2118G>A (p.Gly706=) c.2097G>A (p.Gly699=) n.2301G>A n.2227G>A n.2456G>A n.2204G>A n.2130G>A | |
12 | g.48145036G>C | CA479459535 | PFKM | c.2220G>C (p.Gly740=) c.2211G>C (p.Gly737=) c.1998G>C (p.Gly666=) c.1740G>C (p.Gly580=) c.2307G>C (p.Gly769=) n.2322G>C c.*2266G>C (n.*2266G>C) c.1905G>C (p.Gly635=) c.274G>C c.2214G>C (p.Gly738=) c.2142G>C (p.Gly714=) c.2022G>C (p.Gly674=) c.1911G>C (p.Gly637=) c.1872G>C (p.Gly624=) c.1848G>C (p.Gly616=) n.2435G>C n.3071G>C n.2361G>C n.2590G>C n.2338G>C n.2264G>C c.2118G>C (p.Gly706=) c.2097G>C (p.Gly699=) n.2301G>C n.2227G>C n.2456G>C n.2204G>C n.2130G>C | |
12 | g.48145036G>T | CA479459538 | PFKM | c.2220G>T (p.Gly740=) c.2211G>T (p.Gly737=) c.1998G>T (p.Gly666=) c.1740G>T (p.Gly580=) c.2307G>T (p.Gly769=) n.2322G>T c.*2266G>T (n.*2266G>T) c.1905G>T (p.Gly635=) c.274G>T c.2214G>T (p.Gly738=) c.2142G>T (p.Gly714=) c.2022G>T (p.Gly674=) c.1911G>T (p.Gly637=) c.1872G>T (p.Gly624=) c.1848G>T (p.Gly616=) n.2435G>T n.3071G>T n.2361G>T n.2590G>T n.2338G>T n.2264G>T c.2118G>T (p.Gly706=) c.2097G>T (p.Gly699=) n.2301G>T n.2227G>T n.2456G>T n.2204G>T n.2130G>T | |
12 | g.48145037A>C | CA384555707 | PFKM | c.2221A>C (p.Ser741Arg) c.2212A>C (p.Ser738Arg) c.1999A>C (p.Ser667Arg) c.1741A>C (p.Ser581Arg) c.2308A>C (p.Ser770Arg) n.2323A>C c.*2267A>C (n.*2267A>C) c.1906A>C (p.Ser636Arg) c.275A>C c.2215A>C (p.Ser739Arg) c.2143A>C (p.Ser715Arg) c.2023A>C (p.Ser675Arg) c.1912A>C (p.Ser638Arg) c.1873A>C (p.Ser625Arg) c.1849A>C (p.Ser617Arg) n.2436A>C n.3072A>C n.2362A>C n.2591A>C n.2339A>C n.2265A>C c.2119A>C (p.Ser707Arg) c.2098A>C (p.Ser700Arg) n.2302A>C n.2228A>C n.2457A>C n.2205A>C n.2131A>C | |
12 | g.48145037A>G | CA384555709 | PFKM | c.2221A>G (p.Ser741Gly) c.2212A>G (p.Ser738Gly) c.1999A>G (p.Ser667Gly) c.1741A>G (p.Ser581Gly) c.2308A>G (p.Ser770Gly) n.2323A>G c.*2267A>G (n.*2267A>G) c.1906A>G (p.Ser636Gly) c.275A>G c.2215A>G (p.Ser739Gly) c.2143A>G (p.Ser715Gly) c.2023A>G (p.Ser675Gly) c.1912A>G (p.Ser638Gly) c.1873A>G (p.Ser625Gly) c.1849A>G (p.Ser617Gly) n.2436A>G n.3072A>G n.2362A>G n.2591A>G n.2339A>G n.2265A>G c.2119A>G (p.Ser707Gly) c.2098A>G (p.Ser700Gly) n.2302A>G n.2228A>G n.2457A>G n.2205A>G n.2131A>G | |
12 | g.48145037A>T | CA384555711 | PFKM | c.2221A>T (p.Ser741Cys) c.2212A>T (p.Ser738Cys) c.1999A>T (p.Ser667Cys) c.1741A>T (p.Ser581Cys) c.2308A>T (p.Ser770Cys) n.2323A>T c.*2267A>T (n.*2267A>T) c.1906A>T (p.Ser636Cys) c.275A>T c.2215A>T (p.Ser739Cys) c.2143A>T (p.Ser715Cys) c.2023A>T (p.Ser675Cys) c.1912A>T (p.Ser638Cys) c.1873A>T (p.Ser625Cys) c.1849A>T (p.Ser617Cys) n.2436A>T n.3072A>T n.2362A>T n.2591A>T n.2339A>T n.2265A>T c.2119A>T (p.Ser707Cys) c.2098A>T (p.Ser700Cys) n.2302A>T n.2228A>T n.2457A>T n.2205A>T n.2131A>T | |
12 | g.48145038G>A | CA384555716 | PFKM | c.2222G>A (p.Ser741Asn) c.2213G>A (p.Ser738Asn) c.2000G>A (p.Ser667Asn) c.1742G>A (p.Ser581Asn) c.2309G>A (p.Ser770Asn) n.2324G>A c.*2268G>A (n.*2268G>A) c.1907G>A (p.Ser636Asn) c.276G>A c.2216G>A (p.Ser739Asn) c.2144G>A (p.Ser715Asn) c.2024G>A (p.Ser675Asn) c.1913G>A (p.Ser638Asn) c.1874G>A (p.Ser625Asn) c.1850G>A (p.Ser617Asn) n.2437G>A n.3073G>A n.2363G>A n.2592G>A n.2340G>A n.2266G>A c.2120G>A (p.Ser707Asn) c.2099G>A (p.Ser700Asn) n.2303G>A n.2229G>A n.2458G>A n.2206G>A n.2132G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145038G>C | CA384555715 | PFKM | c.2222G>C (p.Ser741Thr) c.2213G>C (p.Ser738Thr) c.2000G>C (p.Ser667Thr) c.1742G>C (p.Ser581Thr) c.2309G>C (p.Ser770Thr) n.2324G>C c.*2268G>C (n.*2268G>C) c.1907G>C (p.Ser636Thr) c.276G>C c.2216G>C (p.Ser739Thr) c.2144G>C (p.Ser715Thr) c.2024G>C (p.Ser675Thr) c.1913G>C (p.Ser638Thr) c.1874G>C (p.Ser625Thr) c.1850G>C (p.Ser617Thr) n.2437G>C n.3073G>C n.2363G>C n.2592G>C n.2340G>C n.2266G>C c.2120G>C (p.Ser707Thr) c.2099G>C (p.Ser700Thr) n.2303G>C n.2229G>C n.2458G>C n.2206G>C n.2132G>C | |
12 | g.48145038G= | CA2034544877 | PFKM | c.2222G= (p.Ser741=) c.2213G= (p.Ser738=) c.2000G= (p.Ser667=) c.1742G= (p.Ser581=) c.2309G= (p.Ser770=) n.2324G= c.*2268G= (n.*2268G=) c.1907G= (p.Ser636=) c.276G= c.2216G= (p.Ser739=) c.2144G= (p.Ser715=) c.2024G= (p.Ser675=) c.1913G= (p.Ser638=) c.1874G= (p.Ser625=) c.1850G= (p.Ser617=) n.2437G= n.3073G= n.2363G= n.2592G= n.2340G= n.2266G= c.2120G= (p.Ser707=) c.2099G= (p.Ser700=) n.2303G= n.2229G= n.2458G= n.2206G= n.2132G= | |
12 | g.48145038G>T | CA384555713 | PFKM | c.2222G>T (p.Ser741Ile) c.2213G>T (p.Ser738Ile) c.2000G>T (p.Ser667Ile) c.1742G>T (p.Ser581Ile) c.2309G>T (p.Ser770Ile) n.2324G>T c.*2268G>T (n.*2268G>T) c.1907G>T (p.Ser636Ile) c.276G>T c.2216G>T (p.Ser739Ile) c.2144G>T (p.Ser715Ile) c.2024G>T (p.Ser675Ile) c.1913G>T (p.Ser638Ile) c.1874G>T (p.Ser625Ile) c.1850G>T (p.Ser617Ile) n.2437G>T n.3073G>T n.2363G>T n.2592G>T n.2340G>T n.2266G>T c.2120G>T (p.Ser707Ile) c.2099G>T (p.Ser700Ile) n.2303G>T n.2229G>T n.2458G>T n.2206G>T n.2132G>T | |
12 | g.48145038_48145039delinsGC | CA2034544876 | PFKM | c.2222_2223delinsGC (p.Ser741=) c.2213_2214delinsGC (p.Ser738=) c.2000_2001delinsGC (p.Ser667=) c.1742_1743delinsGC (p.Ser581=) c.2309_2310delinsGC (p.Ser770=) n.2324_2325delinsGC c.*2268_*2269delinsGC (n.*2268_*2269delinsGC) c.1907_1908delinsGC (p.Ser636=) c.276_277delinsGC c.2216_2217delinsGC (p.Ser739=) c.2144_2145delinsGC (p.Ser715=) c.2024_2025delinsGC (p.Ser675=) c.1913_1914delinsGC (p.Ser638=) c.1874_1875delinsGC (p.Ser625=) c.1850_1851delinsGC (p.Ser617=) n.2437_2438delinsGC n.3073_3074delinsGC n.2363_2364delinsGC n.2592_2593delinsGC n.2340_2341delinsGC n.2266_2267delinsGC c.2120_2121delinsGC (p.Ser707=) c.2099_2100delinsGC (p.Ser700=) n.2303_2304delinsGC n.2229_2230delinsGC n.2458_2459delinsGC n.2206_2207delinsGC n.2132_2133delinsGC | |
12 | g.48145039C>A | CA384555720 | PFKM | c.2223C>A (p.Ser741Arg) c.2214C>A (p.Ser738Arg) c.2001C>A (p.Ser667Arg) c.1743C>A (p.Ser581Arg) c.2310C>A (p.Ser770Arg) n.2325C>A c.*2269C>A (n.*2269C>A) c.1908C>A (p.Ser636Arg) c.277C>A c.2217C>A (p.Ser739Arg) c.2145C>A (p.Ser715Arg) c.2025C>A (p.Ser675Arg) c.1914C>A (p.Ser638Arg) c.1875C>A (p.Ser625Arg) c.1851C>A (p.Ser617Arg) n.2438C>A n.3074C>A n.2364C>A n.2593C>A n.2341C>A n.2267C>A c.2121C>A (p.Ser707Arg) c.2100C>A (p.Ser700Arg) n.2304C>A n.2230C>A n.2459C>A n.2207C>A n.2133C>A | |
12 | g.48145039C= | CA2034544891 | PFKM | c.2223C= (p.Ser741=) c.2214C= (p.Ser738=) c.2001C= (p.Ser667=) c.1743C= (p.Ser581=) c.2310C= (p.Ser770=) n.2325C= c.*2269C= (n.*2269C=) c.1908C= (p.Ser636=) c.277C= c.2217C= (p.Ser739=) c.2145C= (p.Ser715=) c.2025C= (p.Ser675=) c.1914C= (p.Ser638=) c.1875C= (p.Ser625=) c.1851C= (p.Ser617=) n.2438C= n.3074C= n.2364C= n.2593C= n.2341C= n.2267C= c.2121C= (p.Ser707=) c.2100C= (p.Ser700=) n.2304C= n.2230C= n.2459C= n.2207C= n.2133C= | |
12 | g.48145039C>G | CA384555722 | PFKM | c.2223C>G (p.Ser741Arg) c.2214C>G (p.Ser738Arg) c.2001C>G (p.Ser667Arg) c.1743C>G (p.Ser581Arg) c.2310C>G (p.Ser770Arg) n.2325C>G c.*2269C>G (n.*2269C>G) c.1908C>G (p.Ser636Arg) c.277C>G c.2217C>G (p.Ser739Arg) c.2145C>G (p.Ser715Arg) c.2025C>G (p.Ser675Arg) c.1914C>G (p.Ser638Arg) c.1875C>G (p.Ser625Arg) c.1851C>G (p.Ser617Arg) n.2438C>G n.3074C>G n.2364C>G n.2593C>G n.2341C>G n.2267C>G c.2121C>G (p.Ser707Arg) c.2100C>G (p.Ser700Arg) n.2304C>G n.2230C>G n.2459C>G n.2207C>G n.2133C>G | |
12 | g.48145039C>T | CA236519703 | PFKM | c.2223C>T (p.Ser741=) c.2214C>T (p.Ser738=) c.2001C>T (p.Ser667=) c.1743C>T (p.Ser581=) c.2310C>T (p.Ser770=) n.2325C>T c.*2269C>T (n.*2269C>T) c.1908C>T (p.Ser636=) c.277C>T c.2217C>T (p.Ser739=) c.2145C>T (p.Ser715=) c.2025C>T (p.Ser675=) c.1914C>T (p.Ser638=) c.1875C>T (p.Ser625=) c.1851C>T (p.Ser617=) n.2438C>T n.3074C>T n.2364C>T n.2593C>T n.2341C>T n.2267C>T c.2121C>T (p.Ser707=) c.2100C>T (p.Ser700=) n.2304C>T n.2230C>T n.2459C>T n.2207C>T n.2133C>T | ClinVar dbSNP gnomAD v4 |
12 | g.48145041del | CA6537511 | PFKM | c.2225del (p.Pro742GlnfsTer17) c.2216del (p.Pro739GlnfsTer17) c.2003del (p.Pro668GlnfsTer17) c.1745del (p.Pro582GlnfsTer17) c.2312del (p.Pro771GlnfsTer17) n.2327del c.*2271del (n.*2271del) c.1910del (p.Pro637GlnfsTer17) c.279del c.2219del (p.Pro740GlnfsTer17) c.2147del (p.Pro716GlnfsTer17) c.2027del (p.Pro676GlnfsTer17) c.1916del (p.Pro639GlnfsTer17) c.1877del (p.Pro626GlnfsTer17) c.1853del (p.Pro618GlnfsTer17) n.2440del n.3076del n.2366del n.2595del n.2343del n.2269del c.2123del (p.Pro708GlnfsTer17) c.2102del (p.Pro701GlnfsTer17) n.2306del n.2232del n.2461del n.2209del n.2135del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48145040C>A | CA384555728 | PFKM | c.2224C>A (p.Pro742Thr) c.2215C>A (p.Pro739Thr) c.2002C>A (p.Pro668Thr) c.1744C>A (p.Pro582Thr) c.2311C>A (p.Pro771Thr) n.2326C>A c.*2270C>A (n.*2270C>A) c.1909C>A (p.Pro637Thr) c.278C>A c.2218C>A (p.Pro740Thr) c.2146C>A (p.Pro716Thr) c.2026C>A (p.Pro676Thr) c.1915C>A (p.Pro639Thr) c.1876C>A (p.Pro626Thr) c.1852C>A (p.Pro618Thr) n.2439C>A n.3075C>A n.2365C>A n.2594C>A n.2342C>A n.2268C>A c.2122C>A (p.Pro708Thr) c.2101C>A (p.Pro701Thr) n.2305C>A n.2231C>A n.2460C>A n.2208C>A n.2134C>A | |
12 | g.48145040C= | CA2034544892 | PFKM | c.2224C= (p.Pro742=) c.2215C= (p.Pro739=) c.2002C= (p.Pro668=) c.1744C= (p.Pro582=) c.2311C= (p.Pro771=) n.2326C= c.*2270C= (n.*2270C=) c.1909C= (p.Pro637=) c.278C= c.2218C= (p.Pro740=) c.2146C= (p.Pro716=) c.2026C= (p.Pro676=) c.1915C= (p.Pro639=) c.1876C= (p.Pro626=) c.1852C= (p.Pro618=) n.2439C= n.3075C= n.2365C= n.2594C= n.2342C= n.2268C= c.2122C= (p.Pro708=) c.2101C= (p.Pro701=) n.2305C= n.2231C= n.2460C= n.2208C= n.2134C= | |
12 | g.48145040C>G | CA384555730 | PFKM | c.2224C>G (p.Pro742Ala) c.2215C>G (p.Pro739Ala) c.2002C>G (p.Pro668Ala) c.1744C>G (p.Pro582Ala) c.2311C>G (p.Pro771Ala) n.2326C>G c.*2270C>G (n.*2270C>G) c.1909C>G (p.Pro637Ala) c.278C>G c.2218C>G (p.Pro740Ala) c.2146C>G (p.Pro716Ala) c.2026C>G (p.Pro676Ala) c.1915C>G (p.Pro639Ala) c.1876C>G (p.Pro626Ala) c.1852C>G (p.Pro618Ala) n.2439C>G n.3075C>G n.2365C>G n.2594C>G n.2342C>G n.2268C>G c.2122C>G (p.Pro708Ala) c.2101C>G (p.Pro701Ala) n.2305C>G n.2231C>G n.2460C>G n.2208C>G n.2134C>G | dbSNP gnomAD v4 |
12 | g.48145040C>T | CA384555731 | PFKM | c.2224C>T (p.Pro742Ser) c.2215C>T (p.Pro739Ser) c.2002C>T (p.Pro668Ser) c.1744C>T (p.Pro582Ser) c.2311C>T (p.Pro771Ser) n.2326C>T c.*2270C>T (n.*2270C>T) c.1909C>T (p.Pro637Ser) c.278C>T c.2218C>T (p.Pro740Ser) c.2146C>T (p.Pro716Ser) c.2026C>T (p.Pro676Ser) c.1915C>T (p.Pro639Ser) c.1876C>T (p.Pro626Ser) c.1852C>T (p.Pro618Ser) n.2439C>T n.3075C>T n.2365C>T n.2594C>T n.2342C>T n.2268C>T c.2122C>T (p.Pro708Ser) c.2101C>T (p.Pro701Ser) n.2305C>T n.2231C>T n.2460C>T n.2208C>T n.2134C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145041C>A | CA384555732 | PFKM | c.2225C>A (p.Pro742Gln) c.2216C>A (p.Pro739Gln) c.2003C>A (p.Pro668Gln) c.1745C>A (p.Pro582Gln) c.2312C>A (p.Pro771Gln) n.2327C>A c.*2271C>A (n.*2271C>A) c.1910C>A (p.Pro637Gln) c.279C>A c.2219C>A (p.Pro740Gln) c.2147C>A (p.Pro716Gln) c.2027C>A (p.Pro676Gln) c.1916C>A (p.Pro639Gln) c.1877C>A (p.Pro626Gln) c.1853C>A (p.Pro618Gln) n.2440C>A n.3076C>A n.2366C>A n.2595C>A n.2343C>A n.2269C>A c.2123C>A (p.Pro708Gln) c.2102C>A (p.Pro701Gln) n.2306C>A n.2232C>A n.2461C>A n.2209C>A n.2135C>A | |
12 | g.48145041C>G | CA384555733 | PFKM | c.2225C>G (p.Pro742Arg) c.2216C>G (p.Pro739Arg) c.2003C>G (p.Pro668Arg) c.1745C>G (p.Pro582Arg) c.2312C>G (p.Pro771Arg) n.2327C>G c.*2271C>G (n.*2271C>G) c.1910C>G (p.Pro637Arg) c.279C>G c.2219C>G (p.Pro740Arg) c.2147C>G (p.Pro716Arg) c.2027C>G (p.Pro676Arg) c.1916C>G (p.Pro639Arg) c.1877C>G (p.Pro626Arg) c.1853C>G (p.Pro618Arg) n.2440C>G n.3076C>G n.2366C>G n.2595C>G n.2343C>G n.2269C>G c.2123C>G (p.Pro708Arg) c.2102C>G (p.Pro701Arg) n.2306C>G n.2232C>G n.2461C>G n.2209C>G n.2135C>G | |
12 | g.48145041C>T | CA384555734 | PFKM | c.2225C>T (p.Pro742Leu) c.2216C>T (p.Pro739Leu) c.2003C>T (p.Pro668Leu) c.1745C>T (p.Pro582Leu) c.2312C>T (p.Pro771Leu) n.2327C>T c.*2271C>T (n.*2271C>T) c.1910C>T (p.Pro637Leu) c.279C>T c.2219C>T (p.Pro740Leu) c.2147C>T (p.Pro716Leu) c.2027C>T (p.Pro676Leu) c.1916C>T (p.Pro639Leu) c.1877C>T (p.Pro626Leu) c.1853C>T (p.Pro618Leu) n.2440C>T n.3076C>T n.2366C>T n.2595C>T n.2343C>T n.2269C>T c.2123C>T (p.Pro708Leu) c.2102C>T (p.Pro701Leu) n.2306C>T n.2232C>T n.2461C>T n.2209C>T n.2135C>T | gnomAD v4 |
12 | g.48145042A>C | CA479459566 | PFKM | c.2226A>C (p.Pro742=) c.2217A>C (p.Pro739=) c.2004A>C (p.Pro668=) c.1746A>C (p.Pro582=) c.2313A>C (p.Pro771=) n.2328A>C c.*2272A>C (n.*2272A>C) c.1911A>C (p.Pro637=) c.280A>C c.2220A>C (p.Pro740=) c.2148A>C (p.Pro716=) c.2028A>C (p.Pro676=) c.1917A>C (p.Pro639=) c.1878A>C (p.Pro626=) c.1854A>C (p.Pro618=) n.2441A>C n.3077A>C n.2367A>C n.2596A>C n.2344A>C n.2270A>C c.2124A>C (p.Pro708=) c.2103A>C (p.Pro701=) n.2307A>C n.2233A>C n.2462A>C n.2210A>C n.2136A>C | |
12 | g.48145042A>G | CA479459569 | PFKM | c.2226A>G (p.Pro742=) c.2217A>G (p.Pro739=) c.2004A>G (p.Pro668=) c.1746A>G (p.Pro582=) c.2313A>G (p.Pro771=) n.2328A>G c.*2272A>G (n.*2272A>G) c.1911A>G (p.Pro637=) c.280A>G c.2220A>G (p.Pro740=) c.2148A>G (p.Pro716=) c.2028A>G (p.Pro676=) c.1917A>G (p.Pro639=) c.1878A>G (p.Pro626=) c.1854A>G (p.Pro618=) n.2441A>G n.3077A>G n.2367A>G n.2596A>G n.2344A>G n.2270A>G c.2124A>G (p.Pro708=) c.2103A>G (p.Pro701=) n.2307A>G n.2233A>G n.2462A>G n.2210A>G n.2136A>G | |
12 | g.48145042A>T | CA479459571 | PFKM | c.2226A>T (p.Pro742=) c.2217A>T (p.Pro739=) c.2004A>T (p.Pro668=) c.1746A>T (p.Pro582=) c.2313A>T (p.Pro771=) n.2328A>T c.*2272A>T (n.*2272A>T) c.1911A>T (p.Pro637=) c.280A>T c.2220A>T (p.Pro740=) c.2148A>T (p.Pro716=) c.2028A>T (p.Pro676=) c.1917A>T (p.Pro639=) c.1878A>T (p.Pro626=) c.1854A>T (p.Pro618=) n.2441A>T n.3077A>T n.2367A>T n.2596A>T n.2344A>T n.2270A>T c.2124A>T (p.Pro708=) c.2103A>T (p.Pro701=) n.2307A>T n.2233A>T n.2462A>T n.2210A>T n.2136A>T | |
12 | g.48145043A>C | CA384555735 | PFKM | c.2227A>C (p.Thr743Pro) c.2218A>C (p.Thr740Pro) c.2005A>C (p.Thr669Pro) c.1747A>C (p.Thr583Pro) c.2314A>C (p.Thr772Pro) n.2329A>C c.*2273A>C (n.*2273A>C) c.1912A>C (p.Thr638Pro) c.281A>C c.2221A>C (p.Thr741Pro) c.2149A>C (p.Thr717Pro) c.2029A>C (p.Thr677Pro) c.1918A>C (p.Thr640Pro) c.1879A>C (p.Thr627Pro) c.1855A>C (p.Thr619Pro) n.2442A>C n.3078A>C n.2368A>C n.2597A>C n.2345A>C n.2271A>C c.2125A>C (p.Thr709Pro) c.2104A>C (p.Thr702Pro) n.2308A>C n.2234A>C n.2463A>C n.2211A>C n.2137A>C | |
12 | g.48145043A>G | CA384555736 | PFKM | c.2227A>G (p.Thr743Ala) c.2218A>G (p.Thr740Ala) c.2005A>G (p.Thr669Ala) c.1747A>G (p.Thr583Ala) c.2314A>G (p.Thr772Ala) n.2329A>G c.*2273A>G (n.*2273A>G) c.1912A>G (p.Thr638Ala) c.281A>G c.2221A>G (p.Thr741Ala) c.2149A>G (p.Thr717Ala) c.2029A>G (p.Thr677Ala) c.1918A>G (p.Thr640Ala) c.1879A>G (p.Thr627Ala) c.1855A>G (p.Thr619Ala) n.2442A>G n.3078A>G n.2368A>G n.2597A>G n.2345A>G n.2271A>G c.2125A>G (p.Thr709Ala) c.2104A>G (p.Thr702Ala) n.2308A>G n.2234A>G n.2463A>G n.2211A>G n.2137A>G | |
12 | g.48145043A>T | CA384555737 | PFKM | c.2227A>T (p.Thr743Ser) c.2218A>T (p.Thr740Ser) c.2005A>T (p.Thr669Ser) c.1747A>T (p.Thr583Ser) c.2314A>T (p.Thr772Ser) n.2329A>T c.*2273A>T (n.*2273A>T) c.1912A>T (p.Thr638Ser) c.281A>T c.2221A>T (p.Thr741Ser) c.2149A>T (p.Thr717Ser) c.2029A>T (p.Thr677Ser) c.1918A>T (p.Thr640Ser) c.1879A>T (p.Thr627Ser) c.1855A>T (p.Thr619Ser) n.2442A>T n.3078A>T n.2368A>T n.2597A>T n.2345A>T n.2271A>T c.2125A>T (p.Thr709Ser) c.2104A>T (p.Thr702Ser) n.2308A>T n.2234A>T n.2463A>T n.2211A>T n.2137A>T | |
12 | g.48145044C>A | CA384555739 | PFKM | c.2228C>A (p.Thr743Asn) c.2219C>A (p.Thr740Asn) c.2006C>A (p.Thr669Asn) c.1748C>A (p.Thr583Asn) c.2315C>A (p.Thr772Asn) n.2330C>A c.*2274C>A (n.*2274C>A) c.1913C>A (p.Thr638Asn) c.282C>A c.2222C>A (p.Thr741Asn) c.2150C>A (p.Thr717Asn) c.2030C>A (p.Thr677Asn) c.1919C>A (p.Thr640Asn) c.1880C>A (p.Thr627Asn) c.1856C>A (p.Thr619Asn) n.2443C>A n.3079C>A n.2369C>A n.2598C>A n.2346C>A n.2272C>A c.2126C>A (p.Thr709Asn) c.2105C>A (p.Thr702Asn) n.2309C>A n.2235C>A n.2464C>A n.2212C>A n.2138C>A | |
12 | g.48145044C>G | CA384555740 | PFKM | c.2228C>G (p.Thr743Ser) c.2219C>G (p.Thr740Ser) c.2006C>G (p.Thr669Ser) c.1748C>G (p.Thr583Ser) c.2315C>G (p.Thr772Ser) n.2330C>G c.*2274C>G (n.*2274C>G) c.1913C>G (p.Thr638Ser) c.282C>G c.2222C>G (p.Thr741Ser) c.2150C>G (p.Thr717Ser) c.2030C>G (p.Thr677Ser) c.1919C>G (p.Thr640Ser) c.1880C>G (p.Thr627Ser) c.1856C>G (p.Thr619Ser) n.2443C>G n.3079C>G n.2369C>G n.2598C>G n.2346C>G n.2272C>G c.2126C>G (p.Thr709Ser) c.2105C>G (p.Thr702Ser) n.2309C>G n.2235C>G n.2464C>G n.2212C>G n.2138C>G | |
12 | g.48145044C>T | CA384555738 | PFKM | c.2228C>T (p.Thr743Ile) c.2219C>T (p.Thr740Ile) c.2006C>T (p.Thr669Ile) c.1748C>T (p.Thr583Ile) c.2315C>T (p.Thr772Ile) n.2330C>T c.*2274C>T (n.*2274C>T) c.1913C>T (p.Thr638Ile) c.282C>T c.2222C>T (p.Thr741Ile) c.2150C>T (p.Thr717Ile) c.2030C>T (p.Thr677Ile) c.1919C>T (p.Thr640Ile) c.1880C>T (p.Thr627Ile) c.1856C>T (p.Thr619Ile) n.2443C>T n.3079C>T n.2369C>T n.2598C>T n.2346C>T n.2272C>T c.2126C>T (p.Thr709Ile) c.2105C>T (p.Thr702Ile) n.2309C>T n.2235C>T n.2464C>T n.2212C>T n.2138C>T | |
12 | g.48145045C>A | CA6537512 | PFKM | c.2229C>A (p.Thr743=) c.2220C>A (p.Thr740=) c.2007C>A (p.Thr669=) c.1749C>A (p.Thr583=) c.2316C>A (p.Thr772=) n.2331C>A c.*2275C>A (n.*2275C>A) c.1914C>A (p.Thr638=) c.283C>A c.2223C>A (p.Thr741=) c.2151C>A (p.Thr717=) c.2031C>A (p.Thr677=) c.1920C>A (p.Thr640=) c.1881C>A (p.Thr627=) c.1857C>A (p.Thr619=) n.2444C>A n.3080C>A n.2370C>A n.2599C>A n.2347C>A n.2273C>A c.2127C>A (p.Thr709=) c.2106C>A (p.Thr702=) n.2310C>A n.2236C>A n.2465C>A n.2213C>A n.2139C>A | ClinVar dbSNP ExAC |
12 | g.48145045C= | CA2034544893 | PFKM | c.2229C= (p.Thr743=) c.2220C= (p.Thr740=) c.2007C= (p.Thr669=) c.1749C= (p.Thr583=) c.2316C= (p.Thr772=) n.2331C= c.*2275C= (n.*2275C=) c.1914C= (p.Thr638=) c.283C= c.2223C= (p.Thr741=) c.2151C= (p.Thr717=) c.2031C= (p.Thr677=) c.1920C= (p.Thr640=) c.1881C= (p.Thr627=) c.1857C= (p.Thr619=) n.2444C= n.3080C= n.2370C= n.2599C= n.2347C= n.2273C= c.2127C= (p.Thr709=) c.2106C= (p.Thr702=) n.2310C= n.2236C= n.2465C= n.2213C= n.2139C= | |
12 | g.48145045C>G | CA479459580 | PFKM | c.2229C>G (p.Thr743=) c.2220C>G (p.Thr740=) c.2007C>G (p.Thr669=) c.1749C>G (p.Thr583=) c.2316C>G (p.Thr772=) n.2331C>G c.*2275C>G (n.*2275C>G) c.1914C>G (p.Thr638=) c.283C>G c.2223C>G (p.Thr741=) c.2151C>G (p.Thr717=) c.2031C>G (p.Thr677=) c.1920C>G (p.Thr640=) c.1881C>G (p.Thr627=) c.1857C>G (p.Thr619=) n.2444C>G n.3080C>G n.2370C>G n.2599C>G n.2347C>G n.2273C>G c.2127C>G (p.Thr709=) c.2106C>G (p.Thr702=) n.2310C>G n.2236C>G n.2465C>G n.2213C>G n.2139C>G | |
12 | g.48145045C>T | CA479459582 | PFKM | c.2229C>T (p.Thr743=) c.2220C>T (p.Thr740=) c.2007C>T (p.Thr669=) c.1749C>T (p.Thr583=) c.2316C>T (p.Thr772=) n.2331C>T c.*2275C>T (n.*2275C>T) c.1914C>T (p.Thr638=) c.283C>T c.2223C>T (p.Thr741=) c.2151C>T (p.Thr717=) c.2031C>T (p.Thr677=) c.1920C>T (p.Thr640=) c.1881C>T (p.Thr627=) c.1857C>T (p.Thr619=) n.2444C>T n.3080C>T n.2370C>T n.2599C>T n.2347C>T n.2273C>T c.2127C>T (p.Thr709=) c.2106C>T (p.Thr702=) n.2310C>T n.2236C>T n.2465C>T n.2213C>T n.2139C>T | |
12 | g.48145046C>A | CA384555741 | PFKM | c.2230C>A (p.Pro744Thr) c.2221C>A (p.Pro741Thr) c.2008C>A (p.Pro670Thr) c.1750C>A (p.Pro584Thr) c.2317C>A (p.Pro773Thr) n.2332C>A c.*2276C>A (n.*2276C>A) c.1915C>A (p.Pro639Thr) c.284C>A c.2224C>A (p.Pro742Thr) c.2152C>A (p.Pro718Thr) c.2032C>A (p.Pro678Thr) c.1921C>A (p.Pro641Thr) c.1882C>A (p.Pro628Thr) c.1858C>A (p.Pro620Thr) n.2445C>A n.3081C>A n.2371C>A n.2600C>A n.2348C>A n.2274C>A c.2128C>A (p.Pro710Thr) c.2107C>A (p.Pro703Thr) n.2311C>A n.2237C>A n.2466C>A n.2214C>A n.2140C>A | dbSNP gnomAD v4 |
12 | g.48145046C= | CA2034544896 | PFKM | c.2230C= (p.Pro744=) c.2221C= (p.Pro741=) c.2008C= (p.Pro670=) c.1750C= (p.Pro584=) c.2317C= (p.Pro773=) n.2332C= c.*2276C= (n.*2276C=) c.1915C= (p.Pro639=) c.284C= c.2224C= (p.Pro742=) c.2152C= (p.Pro718=) c.2032C= (p.Pro678=) c.1921C= (p.Pro641=) c.1882C= (p.Pro628=) c.1858C= (p.Pro620=) n.2445C= n.3081C= n.2371C= n.2600C= n.2348C= n.2274C= c.2128C= (p.Pro710=) c.2107C= (p.Pro703=) n.2311C= n.2237C= n.2466C= n.2214C= n.2140C= | |
12 | g.48145046C>G | CA384555742 | PFKM | c.2230C>G (p.Pro744Ala) c.2221C>G (p.Pro741Ala) c.2008C>G (p.Pro670Ala) c.1750C>G (p.Pro584Ala) c.2317C>G (p.Pro773Ala) n.2332C>G c.*2276C>G (n.*2276C>G) c.1915C>G (p.Pro639Ala) c.284C>G c.2224C>G (p.Pro742Ala) c.2152C>G (p.Pro718Ala) c.2032C>G (p.Pro678Ala) c.1921C>G (p.Pro641Ala) c.1882C>G (p.Pro628Ala) c.1858C>G (p.Pro620Ala) n.2445C>G n.3081C>G n.2371C>G n.2600C>G n.2348C>G n.2274C>G c.2128C>G (p.Pro710Ala) c.2107C>G (p.Pro703Ala) n.2311C>G n.2237C>G n.2466C>G n.2214C>G n.2140C>G | |
12 | g.48145046C>T | CA384555743 | PFKM | c.2230C>T (p.Pro744Ser) c.2221C>T (p.Pro741Ser) c.2008C>T (p.Pro670Ser) c.1750C>T (p.Pro584Ser) c.2317C>T (p.Pro773Ser) n.2332C>T c.*2276C>T (n.*2276C>T) c.1915C>T (p.Pro639Ser) c.284C>T c.2224C>T (p.Pro742Ser) c.2152C>T (p.Pro718Ser) c.2032C>T (p.Pro678Ser) c.1921C>T (p.Pro641Ser) c.1882C>T (p.Pro628Ser) c.1858C>T (p.Pro620Ser) n.2445C>T n.3081C>T n.2371C>T n.2600C>T n.2348C>T n.2274C>T c.2128C>T (p.Pro710Ser) c.2107C>T (p.Pro703Ser) n.2311C>T n.2237C>T n.2466C>T n.2214C>T n.2140C>T | |
12 | g.48145047C>A | CA384555744 | PFKM | c.2231C>A (p.Pro744Gln) c.2222C>A (p.Pro741Gln) c.2009C>A (p.Pro670Gln) c.1751C>A (p.Pro584Gln) c.2318C>A (p.Pro773Gln) n.2333C>A c.*2277C>A (n.*2277C>A) c.1916C>A (p.Pro639Gln) c.285C>A c.2225C>A (p.Pro742Gln) c.2153C>A (p.Pro718Gln) c.2033C>A (p.Pro678Gln) c.1922C>A (p.Pro641Gln) c.1883C>A (p.Pro628Gln) c.1859C>A (p.Pro620Gln) n.2446C>A n.3082C>A n.2372C>A n.2601C>A n.2349C>A n.2275C>A c.2129C>A (p.Pro710Gln) c.2108C>A (p.Pro703Gln) n.2312C>A n.2238C>A n.2467C>A n.2215C>A n.2141C>A | |
12 | g.48145047C>G | CA384555745 | PFKM | c.2231C>G (p.Pro744Arg) c.2222C>G (p.Pro741Arg) c.2009C>G (p.Pro670Arg) c.1751C>G (p.Pro584Arg) c.2318C>G (p.Pro773Arg) n.2333C>G c.*2277C>G (n.*2277C>G) c.1916C>G (p.Pro639Arg) c.285C>G c.2225C>G (p.Pro742Arg) c.2153C>G (p.Pro718Arg) c.2033C>G (p.Pro678Arg) c.1922C>G (p.Pro641Arg) c.1883C>G (p.Pro628Arg) c.1859C>G (p.Pro620Arg) n.2446C>G n.3082C>G n.2372C>G n.2601C>G n.2349C>G n.2275C>G c.2129C>G (p.Pro710Arg) c.2108C>G (p.Pro703Arg) n.2312C>G n.2238C>G n.2467C>G n.2215C>G n.2141C>G | |
12 | g.48145047C>T | CA384555746 | PFKM | c.2231C>T (p.Pro744Leu) c.2222C>T (p.Pro741Leu) c.2009C>T (p.Pro670Leu) c.1751C>T (p.Pro584Leu) c.2318C>T (p.Pro773Leu) n.2333C>T c.*2277C>T (n.*2277C>T) c.1916C>T (p.Pro639Leu) c.285C>T c.2225C>T (p.Pro742Leu) c.2153C>T (p.Pro718Leu) c.2033C>T (p.Pro678Leu) c.1922C>T (p.Pro641Leu) c.1883C>T (p.Pro628Leu) c.1859C>T (p.Pro620Leu) n.2446C>T n.3082C>T n.2372C>T n.2601C>T n.2349C>T n.2275C>T c.2129C>T (p.Pro710Leu) c.2108C>T (p.Pro703Leu) n.2312C>T n.2238C>T n.2467C>T n.2215C>T n.2141C>T | |
12 | g.48145048A>C | CA479459593 | PFKM | c.2232A>C (p.Pro744=) c.2223A>C (p.Pro741=) c.2010A>C (p.Pro670=) c.1752A>C (p.Pro584=) c.2319A>C (p.Pro773=) n.2334A>C c.*2278A>C (n.*2278A>C) c.1917A>C (p.Pro639=) c.286A>C c.2226A>C (p.Pro742=) c.2154A>C (p.Pro718=) c.2034A>C (p.Pro678=) c.1923A>C (p.Pro641=) c.1884A>C (p.Pro628=) c.1860A>C (p.Pro620=) n.2447A>C n.3083A>C n.2373A>C n.2602A>C n.2350A>C n.2276A>C c.2130A>C (p.Pro710=) c.2109A>C (p.Pro703=) n.2313A>C n.2239A>C n.2468A>C n.2216A>C n.2142A>C | |
12 | g.48145048A>G | CA479459595 | PFKM | c.2232A>G (p.Pro744=) c.2223A>G (p.Pro741=) c.2010A>G (p.Pro670=) c.1752A>G (p.Pro584=) c.2319A>G (p.Pro773=) n.2334A>G c.*2278A>G (n.*2278A>G) c.1917A>G (p.Pro639=) c.286A>G c.2226A>G (p.Pro742=) c.2154A>G (p.Pro718=) c.2034A>G (p.Pro678=) c.1923A>G (p.Pro641=) c.1884A>G (p.Pro628=) c.1860A>G (p.Pro620=) n.2447A>G n.3083A>G n.2373A>G n.2602A>G n.2350A>G n.2276A>G c.2130A>G (p.Pro710=) c.2109A>G (p.Pro703=) n.2313A>G n.2239A>G n.2468A>G n.2216A>G n.2142A>G | |
12 | g.48145048A>T | CA479459597 | PFKM | c.2232A>T (p.Pro744=) c.2223A>T (p.Pro741=) c.2010A>T (p.Pro670=) c.1752A>T (p.Pro584=) c.2319A>T (p.Pro773=) n.2334A>T c.*2278A>T (n.*2278A>T) c.1917A>T (p.Pro639=) c.286A>T c.2226A>T (p.Pro742=) c.2154A>T (p.Pro718=) c.2034A>T (p.Pro678=) c.1923A>T (p.Pro641=) c.1884A>T (p.Pro628=) c.1860A>T (p.Pro620=) n.2447A>T n.3083A>T n.2373A>T n.2602A>T n.2350A>T n.2276A>T c.2130A>T (p.Pro710=) c.2109A>T (p.Pro703=) n.2313A>T n.2239A>T n.2468A>T n.2216A>T n.2142A>T | |
12 | g.48145049T>A | CA384555747 | PFKM | c.2233T>A (p.Phe745Ile) c.2224T>A (p.Phe742Ile) c.2011T>A (p.Phe671Ile) c.1753T>A (p.Phe585Ile) c.2320T>A (p.Phe774Ile) n.2335T>A c.*2279T>A (n.*2279T>A) c.1918T>A (p.Phe640Ile) c.287T>A c.2227T>A (p.Phe743Ile) c.2155T>A (p.Phe719Ile) c.2035T>A (p.Phe679Ile) c.1924T>A (p.Phe642Ile) c.1885T>A (p.Phe629Ile) c.1861T>A (p.Phe621Ile) n.2448T>A n.3084T>A n.2374T>A n.2603T>A n.2351T>A n.2277T>A c.2131T>A (p.Phe711Ile) c.2110T>A (p.Phe704Ile) n.2314T>A n.2240T>A n.2469T>A n.2217T>A n.2143T>A | |
12 | g.48145049T>C | CA384555748 | PFKM | c.2233T>C (p.Phe745Leu) c.2224T>C (p.Phe742Leu) c.2011T>C (p.Phe671Leu) c.1753T>C (p.Phe585Leu) c.2320T>C (p.Phe774Leu) n.2335T>C c.*2279T>C (n.*2279T>C) c.1918T>C (p.Phe640Leu) c.287T>C c.2227T>C (p.Phe743Leu) c.2155T>C (p.Phe719Leu) c.2035T>C (p.Phe679Leu) c.1924T>C (p.Phe642Leu) c.1885T>C (p.Phe629Leu) c.1861T>C (p.Phe621Leu) n.2448T>C n.3084T>C n.2374T>C n.2603T>C n.2351T>C n.2277T>C c.2131T>C (p.Phe711Leu) c.2110T>C (p.Phe704Leu) n.2314T>C n.2240T>C n.2469T>C n.2217T>C n.2143T>C | |
12 | g.48145049T>G | CA384555749 | PFKM | c.2233T>G (p.Phe745Val) c.2224T>G (p.Phe742Val) c.2011T>G (p.Phe671Val) c.1753T>G (p.Phe585Val) c.2320T>G (p.Phe774Val) n.2335T>G c.*2279T>G (n.*2279T>G) c.1918T>G (p.Phe640Val) c.287T>G c.2227T>G (p.Phe743Val) c.2155T>G (p.Phe719Val) c.2035T>G (p.Phe679Val) c.1924T>G (p.Phe642Val) c.1885T>G (p.Phe629Val) c.1861T>G (p.Phe621Val) n.2448T>G n.3084T>G n.2374T>G n.2603T>G n.2351T>G n.2277T>G c.2131T>G (p.Phe711Val) c.2110T>G (p.Phe704Val) n.2314T>G n.2240T>G n.2469T>G n.2217T>G n.2143T>G | |
12 | g.48145050T>A | CA384555750 | PFKM | c.2234T>A (p.Phe745Tyr) c.2225T>A (p.Phe742Tyr) c.2012T>A (p.Phe671Tyr) c.1754T>A (p.Phe585Tyr) c.2321T>A (p.Phe774Tyr) n.2336T>A c.*2280T>A (n.*2280T>A) c.1919T>A (p.Phe640Tyr) c.288T>A c.2228T>A (p.Phe743Tyr) c.2156T>A (p.Phe719Tyr) c.2036T>A (p.Phe679Tyr) c.1925T>A (p.Phe642Tyr) c.1886T>A (p.Phe629Tyr) c.1862T>A (p.Phe621Tyr) n.2449T>A n.3085T>A n.2375T>A n.2604T>A n.2352T>A n.2278T>A c.2132T>A (p.Phe711Tyr) c.2111T>A (p.Phe704Tyr) n.2315T>A n.2241T>A n.2470T>A n.2218T>A n.2144T>A | |
12 | g.48145050T>C | CA384555751 | PFKM | c.2234T>C (p.Phe745Ser) c.2225T>C (p.Phe742Ser) c.2012T>C (p.Phe671Ser) c.1754T>C (p.Phe585Ser) c.2321T>C (p.Phe774Ser) n.2336T>C c.*2280T>C (n.*2280T>C) c.1919T>C (p.Phe640Ser) c.288T>C c.2228T>C (p.Phe743Ser) c.2156T>C (p.Phe719Ser) c.2036T>C (p.Phe679Ser) c.1925T>C (p.Phe642Ser) c.1886T>C (p.Phe629Ser) c.1862T>C (p.Phe621Ser) n.2449T>C n.3085T>C n.2375T>C n.2604T>C n.2352T>C n.2278T>C c.2132T>C (p.Phe711Ser) c.2111T>C (p.Phe704Ser) n.2315T>C n.2241T>C n.2470T>C n.2218T>C n.2144T>C | |
12 | g.48145050T>G | CA384555752 | PFKM | c.2234T>G (p.Phe745Cys) c.2225T>G (p.Phe742Cys) c.2012T>G (p.Phe671Cys) c.1754T>G (p.Phe585Cys) c.2321T>G (p.Phe774Cys) n.2336T>G c.*2280T>G (n.*2280T>G) c.1919T>G (p.Phe640Cys) c.288T>G c.2228T>G (p.Phe743Cys) c.2156T>G (p.Phe719Cys) c.2036T>G (p.Phe679Cys) c.1925T>G (p.Phe642Cys) c.1886T>G (p.Phe629Cys) c.1862T>G (p.Phe621Cys) n.2449T>G n.3085T>G n.2375T>G n.2604T>G n.2352T>G n.2278T>G c.2132T>G (p.Phe711Cys) c.2111T>G (p.Phe704Cys) n.2315T>G n.2241T>G n.2470T>G n.2218T>G n.2144T>G | |
12 | g.48145051T>A | CA384555754 | PFKM | c.2235T>A (p.Phe745Leu) c.2226T>A (p.Phe742Leu) c.2013T>A (p.Phe671Leu) c.1755T>A (p.Phe585Leu) c.2322T>A (p.Phe774Leu) n.2337T>A c.*2281T>A (n.*2281T>A) c.1920T>A (p.Phe640Leu) c.289T>A c.2229T>A (p.Phe743Leu) c.2157T>A (p.Phe719Leu) c.2037T>A (p.Phe679Leu) c.1926T>A (p.Phe642Leu) c.1887T>A (p.Phe629Leu) c.1863T>A (p.Phe621Leu) n.2450T>A n.3086T>A n.2376T>A n.2605T>A n.2353T>A n.2279T>A c.2133T>A (p.Phe711Leu) c.2112T>A (p.Phe704Leu) n.2316T>A n.2242T>A n.2471T>A n.2219T>A n.2145T>A | |
12 | g.48145051T>C | CA479459610 | PFKM | c.2235T>C (p.Phe745=) c.2226T>C (p.Phe742=) c.2013T>C (p.Phe671=) c.1755T>C (p.Phe585=) c.2322T>C (p.Phe774=) n.2337T>C c.*2281T>C (n.*2281T>C) c.1920T>C (p.Phe640=) c.289T>C c.2229T>C (p.Phe743=) c.2157T>C (p.Phe719=) c.2037T>C (p.Phe679=) c.1926T>C (p.Phe642=) c.1887T>C (p.Phe629=) c.1863T>C (p.Phe621=) n.2450T>C n.3086T>C n.2376T>C n.2605T>C n.2353T>C n.2279T>C c.2133T>C (p.Phe711=) c.2112T>C (p.Phe704=) n.2316T>C n.2242T>C n.2471T>C n.2219T>C n.2145T>C | |
12 | g.48145051T>G | CA384555753 | PFKM | c.2235T>G (p.Phe745Leu) c.2226T>G (p.Phe742Leu) c.2013T>G (p.Phe671Leu) c.1755T>G (p.Phe585Leu) c.2322T>G (p.Phe774Leu) n.2337T>G c.*2281T>G (n.*2281T>G) c.1920T>G (p.Phe640Leu) c.289T>G c.2229T>G (p.Phe743Leu) c.2157T>G (p.Phe719Leu) c.2037T>G (p.Phe679Leu) c.1926T>G (p.Phe642Leu) c.1887T>G (p.Phe629Leu) c.1863T>G (p.Phe621Leu) n.2450T>G n.3086T>G n.2376T>G n.2605T>G n.2353T>G n.2279T>G c.2133T>G (p.Phe711Leu) c.2112T>G (p.Phe704Leu) n.2316T>G n.2242T>G n.2471T>G n.2219T>G n.2145T>G | |
12 | g.48145052G>A | CA384555755 | PFKM | c.2236G>A (p.Asp746Asn) c.2227G>A (p.Asp743Asn) c.2014G>A (p.Asp672Asn) c.1756G>A (p.Asp586Asn) c.2323G>A (p.Asp775Asn) n.2338G>A c.*2282G>A (n.*2282G>A) c.1921G>A (p.Asp641Asn) c.2230G>A (p.Asp744Asn) c.2158G>A (p.Asp720Asn) c.2038G>A (p.Asp680Asn) c.1927G>A (p.Asp643Asn) c.1888G>A (p.Asp630Asn) c.1864G>A (p.Asp622Asn) n.2451G>A n.3087G>A n.2377G>A n.2606G>A n.2354G>A n.2280G>A c.2134G>A (p.Asp712Asn) c.2113G>A (p.Asp705Asn) n.2317G>A n.2243G>A n.2472G>A n.2220G>A n.2146G>A | dbSNP gnomAD v4 |
12 | g.48145052G>C | CA384555756 | PFKM | c.2236G>C (p.Asp746His) c.2227G>C (p.Asp743His) c.2014G>C (p.Asp672His) c.1756G>C (p.Asp586His) c.2323G>C (p.Asp775His) n.2338G>C c.*2282G>C (n.*2282G>C) c.1921G>C (p.Asp641His) c.2230G>C (p.Asp744His) c.2158G>C (p.Asp720His) c.2038G>C (p.Asp680His) c.1927G>C (p.Asp643His) c.1888G>C (p.Asp630His) c.1864G>C (p.Asp622His) n.2451G>C n.3087G>C n.2377G>C n.2606G>C n.2354G>C n.2280G>C c.2134G>C (p.Asp712His) c.2113G>C (p.Asp705His) n.2317G>C n.2243G>C n.2472G>C n.2220G>C n.2146G>C | |
12 | g.48145052G= | CA2034544897 | PFKM | c.2236G= (p.Asp746=) c.2227G= (p.Asp743=) c.2014G= (p.Asp672=) c.1756G= (p.Asp586=) c.2323G= (p.Asp775=) n.2338G= c.*2282G= (n.*2282G=) c.1921G= (p.Asp641=) c.2230G= (p.Asp744=) c.2158G= (p.Asp720=) c.2038G= (p.Asp680=) c.1927G= (p.Asp643=) c.1888G= (p.Asp630=) c.1864G= (p.Asp622=) n.2451G= n.3087G= n.2377G= n.2606G= n.2354G= n.2280G= c.2134G= (p.Asp712=) c.2113G= (p.Asp705=) n.2317G= n.2243G= n.2472G= n.2220G= n.2146G= | |
12 | g.48145052G>T | CA384555757 | PFKM | c.2236G>T (p.Asp746Tyr) c.2227G>T (p.Asp743Tyr) c.2014G>T (p.Asp672Tyr) c.1756G>T (p.Asp586Tyr) c.2323G>T (p.Asp775Tyr) n.2338G>T c.*2282G>T (n.*2282G>T) c.1921G>T (p.Asp641Tyr) c.2230G>T (p.Asp744Tyr) c.2158G>T (p.Asp720Tyr) c.2038G>T (p.Asp680Tyr) c.1927G>T (p.Asp643Tyr) c.1888G>T (p.Asp630Tyr) c.1864G>T (p.Asp622Tyr) n.2451G>T n.3087G>T n.2377G>T n.2606G>T n.2354G>T n.2280G>T c.2134G>T (p.Asp712Tyr) c.2113G>T (p.Asp705Tyr) n.2317G>T n.2243G>T n.2472G>T n.2220G>T n.2146G>T | |
12 | g.48145053A= | CA2034544898 | PFKM | c.2237A= (p.Asp746=) c.2228A= (p.Asp743=) c.2015A= (p.Asp672=) c.1757A= (p.Asp586=) c.2324A= (p.Asp775=) n.2339A= c.*2283A= (n.*2283A=) c.1922A= (p.Asp641=) c.2231A= (p.Asp744=) c.2159A= (p.Asp720=) c.2039A= (p.Asp680=) c.1928A= (p.Asp643=) c.1889A= (p.Asp630=) c.1865A= (p.Asp622=) n.2452A= n.3088A= n.2378A= n.2607A= n.2355A= n.2281A= c.2135A= (p.Asp712=) c.2114A= (p.Asp705=) n.2318A= n.2244A= n.2473A= n.2221A= n.2147A= | |
12 | g.48145053A>C | CA384555758 | PFKM | c.2237A>C (p.Asp746Ala) c.2228A>C (p.Asp743Ala) c.2015A>C (p.Asp672Ala) c.1757A>C (p.Asp586Ala) c.2324A>C (p.Asp775Ala) n.2339A>C c.*2283A>C (n.*2283A>C) c.1922A>C (p.Asp641Ala) c.2231A>C (p.Asp744Ala) c.2159A>C (p.Asp720Ala) c.2039A>C (p.Asp680Ala) c.1928A>C (p.Asp643Ala) c.1889A>C (p.Asp630Ala) c.1865A>C (p.Asp622Ala) n.2452A>C n.3088A>C n.2378A>C n.2607A>C n.2355A>C n.2281A>C c.2135A>C (p.Asp712Ala) c.2114A>C (p.Asp705Ala) n.2318A>C n.2244A>C n.2473A>C n.2221A>C n.2147A>C | |
12 | g.48145053A>G | CA384555759 | PFKM | c.2237A>G (p.Asp746Gly) c.2228A>G (p.Asp743Gly) c.2015A>G (p.Asp672Gly) c.1757A>G (p.Asp586Gly) c.2324A>G (p.Asp775Gly) n.2339A>G c.*2283A>G (n.*2283A>G) c.1922A>G (p.Asp641Gly) c.2231A>G (p.Asp744Gly) c.2159A>G (p.Asp720Gly) c.2039A>G (p.Asp680Gly) c.1928A>G (p.Asp643Gly) c.1889A>G (p.Asp630Gly) c.1865A>G (p.Asp622Gly) n.2452A>G n.3088A>G n.2378A>G n.2607A>G n.2355A>G n.2281A>G c.2135A>G (p.Asp712Gly) c.2114A>G (p.Asp705Gly) n.2318A>G n.2244A>G n.2473A>G n.2221A>G n.2147A>G | dbSNP |
12 | g.48145053A>T | CA384555760 | PFKM | c.2237A>T (p.Asp746Val) c.2228A>T (p.Asp743Val) c.2015A>T (p.Asp672Val) c.1757A>T (p.Asp586Val) c.2324A>T (p.Asp775Val) n.2339A>T c.*2283A>T (n.*2283A>T) c.1922A>T (p.Asp641Val) c.2231A>T (p.Asp744Val) c.2159A>T (p.Asp720Val) c.2039A>T (p.Asp680Val) c.1928A>T (p.Asp643Val) c.1889A>T (p.Asp630Val) c.1865A>T (p.Asp622Val) n.2452A>T n.3088A>T n.2378A>T n.2607A>T n.2355A>T n.2281A>T c.2135A>T (p.Asp712Val) c.2114A>T (p.Asp705Val) n.2318A>T n.2244A>T n.2473A>T n.2221A>T n.2147A>T | |
12 | g.48145054T>A | CA384555761 | PFKM | c.2238T>A (p.Asp746Glu) c.2229T>A (p.Asp743Glu) c.2016T>A (p.Asp672Glu) c.1758T>A (p.Asp586Glu) c.2325T>A (p.Asp775Glu) n.2340T>A c.*2284T>A (n.*2284T>A) c.1923T>A (p.Asp641Glu) c.2232T>A (p.Asp744Glu) c.2160T>A (p.Asp720Glu) c.2040T>A (p.Asp680Glu) c.1929T>A (p.Asp643Glu) c.1890T>A (p.Asp630Glu) c.1866T>A (p.Asp622Glu) n.2453T>A n.3089T>A n.2379T>A n.2608T>A n.2356T>A n.2282T>A c.2136T>A (p.Asp712Glu) c.2115T>A (p.Asp705Glu) n.2319T>A n.2245T>A n.2474T>A n.2222T>A n.2148T>A | |
12 | g.48145054T>C | CA479459635 | PFKM | c.2238T>C (p.Asp746=) c.2229T>C (p.Asp743=) c.2016T>C (p.Asp672=) c.1758T>C (p.Asp586=) c.2325T>C (p.Asp775=) n.2340T>C c.*2284T>C (n.*2284T>C) c.1923T>C (p.Asp641=) c.2232T>C (p.Asp744=) c.2160T>C (p.Asp720=) c.2040T>C (p.Asp680=) c.1929T>C (p.Asp643=) c.1890T>C (p.Asp630=) c.1866T>C (p.Asp622=) n.2453T>C n.3089T>C n.2379T>C n.2608T>C n.2356T>C n.2282T>C c.2136T>C (p.Asp712=) c.2115T>C (p.Asp705=) n.2319T>C n.2245T>C n.2474T>C n.2222T>C n.2148T>C | gnomAD v4 |
12 | g.48145054T>G | CA384555762 | PFKM | c.2238T>G (p.Asp746Glu) c.2229T>G (p.Asp743Glu) c.2016T>G (p.Asp672Glu) c.1758T>G (p.Asp586Glu) c.2325T>G (p.Asp775Glu) n.2340T>G c.*2284T>G (n.*2284T>G) c.1923T>G (p.Asp641Glu) c.2232T>G (p.Asp744Glu) c.2160T>G (p.Asp720Glu) c.2040T>G (p.Asp680Glu) c.1929T>G (p.Asp643Glu) c.1890T>G (p.Asp630Glu) c.1866T>G (p.Asp622Glu) n.2453T>G n.3089T>G n.2379T>G n.2608T>G n.2356T>G n.2282T>G c.2136T>G (p.Asp712Glu) c.2115T>G (p.Asp705Glu) n.2319T>G n.2245T>G n.2474T>G n.2222T>G n.2148T>G | |
12 | g.48145055A>C | CA479459638 | PFKM | c.2239A>C (p.Arg747=) c.2230A>C (p.Arg744=) c.2017A>C (p.Arg673=) c.1759A>C (p.Arg587=) c.2326A>C (p.Arg776=) n.2341A>C c.*2285A>C (n.*2285A>C) c.1924A>C (p.Arg642=) c.2233A>C (p.Arg745=) c.2161A>C (p.Arg721=) c.2041A>C (p.Arg681=) c.1930A>C (p.Arg644=) c.1891A>C (p.Arg631=) c.1867A>C (p.Arg623=) n.2454A>C n.3090A>C n.2380A>C n.2609A>C n.2357A>C n.2283A>C c.2137A>C (p.Arg713=) c.2116A>C (p.Arg706=) n.2320A>C n.2246A>C n.2475A>C n.2223A>C n.2149A>C | |
12 | g.48145055A>G | CA384555763 | PFKM | c.2239A>G (p.Arg747Gly) c.2230A>G (p.Arg744Gly) c.2017A>G (p.Arg673Gly) c.1759A>G (p.Arg587Gly) c.2326A>G (p.Arg776Gly) n.2341A>G c.*2285A>G (n.*2285A>G) c.1924A>G (p.Arg642Gly) c.2233A>G (p.Arg745Gly) c.2161A>G (p.Arg721Gly) c.2041A>G (p.Arg681Gly) c.1930A>G (p.Arg644Gly) c.1891A>G (p.Arg631Gly) c.1867A>G (p.Arg623Gly) n.2454A>G n.3090A>G n.2380A>G n.2609A>G n.2357A>G n.2283A>G c.2137A>G (p.Arg713Gly) c.2116A>G (p.Arg706Gly) n.2320A>G n.2246A>G n.2475A>G n.2223A>G n.2149A>G | |
12 | g.48145055A>T | CA384555764 | PFKM | c.2239A>T (p.Arg747Trp) c.2230A>T (p.Arg744Trp) c.2017A>T (p.Arg673Trp) c.1759A>T (p.Arg587Trp) c.2326A>T (p.Arg776Trp) n.2341A>T c.*2285A>T (n.*2285A>T) c.1924A>T (p.Arg642Trp) c.2233A>T (p.Arg745Trp) c.2161A>T (p.Arg721Trp) c.2041A>T (p.Arg681Trp) c.1930A>T (p.Arg644Trp) c.1891A>T (p.Arg631Trp) c.1867A>T (p.Arg623Trp) n.2454A>T n.3090A>T n.2380A>T n.2609A>T n.2357A>T n.2283A>T c.2137A>T (p.Arg713Trp) c.2116A>T (p.Arg706Trp) n.2320A>T n.2246A>T n.2475A>T n.2223A>T n.2149A>T | COSMIC |
12 | g.48145056G>A | CA384555765 | PFKM | c.2240G>A (p.Arg747Lys) c.2231G>A (p.Arg744Lys) c.2018G>A (p.Arg673Lys) c.1760G>A (p.Arg587Lys) c.2327G>A (p.Arg776Lys) n.2342G>A c.*2286G>A (n.*2286G>A) c.1925G>A (p.Arg642Lys) c.2234G>A (p.Arg745Lys) c.2162G>A (p.Arg721Lys) c.2042G>A (p.Arg681Lys) c.1931G>A (p.Arg644Lys) c.1892G>A (p.Arg631Lys) c.1868G>A (p.Arg623Lys) n.2455G>A n.3091G>A n.2381G>A n.2610G>A n.2358G>A n.2284G>A c.2138G>A (p.Arg713Lys) c.2117G>A (p.Arg706Lys) n.2321G>A n.2247G>A n.2476G>A n.2224G>A n.2150G>A | |
12 | g.48145056G>C | CA384555766 | PFKM | c.2240G>C (p.Arg747Thr) c.2231G>C (p.Arg744Thr) c.2018G>C (p.Arg673Thr) c.1760G>C (p.Arg587Thr) c.2327G>C (p.Arg776Thr) n.2342G>C c.*2286G>C (n.*2286G>C) c.1925G>C (p.Arg642Thr) c.2234G>C (p.Arg745Thr) c.2162G>C (p.Arg721Thr) c.2042G>C (p.Arg681Thr) c.1931G>C (p.Arg644Thr) c.1892G>C (p.Arg631Thr) c.1868G>C (p.Arg623Thr) n.2455G>C n.3091G>C n.2381G>C n.2610G>C n.2358G>C n.2284G>C c.2138G>C (p.Arg713Thr) c.2117G>C (p.Arg706Thr) n.2321G>C n.2247G>C n.2476G>C n.2224G>C n.2150G>C | |
12 | g.48145056G>T | CA384555767 | PFKM | c.2240G>T (p.Arg747Met) c.2231G>T (p.Arg744Met) c.2018G>T (p.Arg673Met) c.1760G>T (p.Arg587Met) c.2327G>T (p.Arg776Met) n.2342G>T c.*2286G>T (n.*2286G>T) c.1925G>T (p.Arg642Met) c.2234G>T (p.Arg745Met) c.2162G>T (p.Arg721Met) c.2042G>T (p.Arg681Met) c.1931G>T (p.Arg644Met) c.1892G>T (p.Arg631Met) c.1868G>T (p.Arg623Met) n.2455G>T n.3091G>T n.2381G>T n.2610G>T n.2358G>T n.2284G>T c.2138G>T (p.Arg713Met) c.2117G>T (p.Arg706Met) n.2321G>T n.2247G>T n.2476G>T n.2224G>T n.2150G>T | COSMIC COSMIC |
12 | g.48145057G>A | CA479459642 | PFKM | c.2241G>A (p.Arg747=) c.2232G>A (p.Arg744=) c.2019G>A (p.Arg673=) c.1761G>A (p.Arg587=) c.2328G>A (p.Arg776=) n.2343G>A c.*2287G>A (n.*2287G>A) c.1926G>A (p.Arg642=) c.2235G>A (p.Arg745=) c.2163G>A (p.Arg721=) c.2043G>A (p.Arg681=) c.1932G>A (p.Arg644=) c.1893G>A (p.Arg631=) c.1869G>A (p.Arg623=) n.2456G>A n.3092G>A n.2382G>A n.2611G>A n.2359G>A n.2285G>A c.2139G>A (p.Arg713=) c.2118G>A (p.Arg706=) n.2322G>A n.2248G>A n.2477G>A n.2225G>A n.2151G>A | ClinVar dbSNP gnomAD v4 |
12 | g.48145057G>C | CA384555769 | PFKM | c.2241G>C (p.Arg747Ser) c.2232G>C (p.Arg744Ser) c.2019G>C (p.Arg673Ser) c.1761G>C (p.Arg587Ser) c.2328G>C (p.Arg776Ser) n.2343G>C c.*2287G>C (n.*2287G>C) c.1926G>C (p.Arg642Ser) c.2235G>C (p.Arg745Ser) c.2163G>C (p.Arg721Ser) c.2043G>C (p.Arg681Ser) c.1932G>C (p.Arg644Ser) c.1893G>C (p.Arg631Ser) c.1869G>C (p.Arg623Ser) n.2456G>C n.3092G>C n.2382G>C n.2611G>C n.2359G>C n.2285G>C c.2139G>C (p.Arg713Ser) c.2118G>C (p.Arg706Ser) n.2322G>C n.2248G>C n.2477G>C n.2225G>C n.2151G>C | |
12 | g.48145057G= | CA2034544899 | PFKM | c.2241G= (p.Arg747=) c.2232G= (p.Arg744=) c.2019G= (p.Arg673=) c.1761G= (p.Arg587=) c.2328G= (p.Arg776=) n.2343G= c.*2287G= (n.*2287G=) c.1926G= (p.Arg642=) c.2235G= (p.Arg745=) c.2163G= (p.Arg721=) c.2043G= (p.Arg681=) c.1932G= (p.Arg644=) c.1893G= (p.Arg631=) c.1869G= (p.Arg623=) n.2456G= n.3092G= n.2382G= n.2611G= n.2359G= n.2285G= c.2139G= (p.Arg713=) c.2118G= (p.Arg706=) n.2322G= n.2248G= n.2477G= n.2225G= n.2151G= | |
12 | g.48145057G>T | CA384555768 | PFKM | c.2241G>T (p.Arg747Ser) c.2232G>T (p.Arg744Ser) c.2019G>T (p.Arg673Ser) c.1761G>T (p.Arg587Ser) c.2328G>T (p.Arg776Ser) n.2343G>T c.*2287G>T (n.*2287G>T) c.1926G>T (p.Arg642Ser) c.2235G>T (p.Arg745Ser) c.2163G>T (p.Arg721Ser) c.2043G>T (p.Arg681Ser) c.1932G>T (p.Arg644Ser) c.1893G>T (p.Arg631Ser) c.1869G>T (p.Arg623Ser) n.2456G>T n.3092G>T n.2382G>T n.2611G>T n.2359G>T n.2285G>T c.2139G>T (p.Arg713Ser) c.2118G>T (p.Arg706Ser) n.2322G>T n.2248G>T n.2477G>T n.2225G>T n.2151G>T | |
12 | g.48145058A>C | CA384555770 | PFKM | c.2242A>C (p.Asn748His) c.2233A>C (p.Asn745His) c.2020A>C (p.Asn674His) c.1762A>C (p.Asn588His) c.2329A>C (p.Asn777His) n.2344A>C c.*2288A>C (n.*2288A>C) c.1927A>C (p.Asn643His) c.2236A>C (p.Asn746His) c.2164A>C (p.Asn722His) c.2044A>C (p.Asn682His) c.1933A>C (p.Asn645His) c.1894A>C (p.Asn632His) c.1870A>C (p.Asn624His) n.2457A>C n.3093A>C n.2383A>C n.2612A>C n.2360A>C n.2286A>C c.2140A>C (p.Asn714His) c.2119A>C (p.Asn707His) n.2323A>C n.2249A>C n.2478A>C n.2226A>C n.2152A>C | |
12 | g.48145058A>G | CA384555772 | PFKM | c.2242A>G (p.Asn748Asp) c.2233A>G (p.Asn745Asp) c.2020A>G (p.Asn674Asp) c.1762A>G (p.Asn588Asp) c.2329A>G (p.Asn777Asp) n.2344A>G c.*2288A>G (n.*2288A>G) c.1927A>G (p.Asn643Asp) c.2236A>G (p.Asn746Asp) c.2164A>G (p.Asn722Asp) c.2044A>G (p.Asn682Asp) c.1933A>G (p.Asn645Asp) c.1894A>G (p.Asn632Asp) c.1870A>G (p.Asn624Asp) n.2457A>G n.3093A>G n.2383A>G n.2612A>G n.2360A>G n.2286A>G c.2140A>G (p.Asn714Asp) c.2119A>G (p.Asn707Asp) n.2323A>G n.2249A>G n.2478A>G n.2226A>G n.2152A>G | |
12 | g.48145058A>T | CA384555771 | PFKM | c.2242A>T (p.Asn748Tyr) c.2233A>T (p.Asn745Tyr) c.2020A>T (p.Asn674Tyr) c.1762A>T (p.Asn588Tyr) c.2329A>T (p.Asn777Tyr) n.2344A>T c.*2288A>T (n.*2288A>T) c.1927A>T (p.Asn643Tyr) c.2236A>T (p.Asn746Tyr) c.2164A>T (p.Asn722Tyr) c.2044A>T (p.Asn682Tyr) c.1933A>T (p.Asn645Tyr) c.1894A>T (p.Asn632Tyr) c.1870A>T (p.Asn624Tyr) n.2457A>T n.3093A>T n.2383A>T n.2612A>T n.2360A>T n.2286A>T c.2140A>T (p.Asn714Tyr) c.2119A>T (p.Asn707Tyr) n.2323A>T n.2249A>T n.2478A>T n.2226A>T n.2152A>T | |
12 | g.48145059A>C | CA384555773 | PFKM | c.2243A>C (p.Asn748Thr) c.2234A>C (p.Asn745Thr) c.2021A>C (p.Asn674Thr) c.1763A>C (p.Asn588Thr) c.2330A>C (p.Asn777Thr) n.2345A>C c.*2289A>C (n.*2289A>C) c.1928A>C (p.Asn643Thr) c.2237A>C (p.Asn746Thr) c.2165A>C (p.Asn722Thr) c.2045A>C (p.Asn682Thr) c.1934A>C (p.Asn645Thr) c.1895A>C (p.Asn632Thr) c.1871A>C (p.Asn624Thr) n.2458A>C n.3094A>C n.2384A>C n.2613A>C n.2361A>C n.2287A>C c.2141A>C (p.Asn714Thr) c.2120A>C (p.Asn707Thr) n.2324A>C n.2250A>C n.2479A>C n.2227A>C n.2153A>C | |
12 | g.48145059A>G | CA384555775 | PFKM | c.2243A>G (p.Asn748Ser) c.2234A>G (p.Asn745Ser) c.2021A>G (p.Asn674Ser) c.1763A>G (p.Asn588Ser) c.2330A>G (p.Asn777Ser) n.2345A>G c.*2289A>G (n.*2289A>G) c.1928A>G (p.Asn643Ser) c.2237A>G (p.Asn746Ser) c.2165A>G (p.Asn722Ser) c.2045A>G (p.Asn682Ser) c.1934A>G (p.Asn645Ser) c.1895A>G (p.Asn632Ser) c.1871A>G (p.Asn624Ser) n.2458A>G n.3094A>G n.2384A>G n.2613A>G n.2361A>G n.2287A>G c.2141A>G (p.Asn714Ser) c.2120A>G (p.Asn707Ser) n.2324A>G n.2250A>G n.2479A>G n.2227A>G n.2153A>G | |
12 | g.48145059A>T | CA384555774 | PFKM | c.2243A>T (p.Asn748Ile) c.2234A>T (p.Asn745Ile) c.2021A>T (p.Asn674Ile) c.1763A>T (p.Asn588Ile) c.2330A>T (p.Asn777Ile) n.2345A>T c.*2289A>T (n.*2289A>T) c.1928A>T (p.Asn643Ile) c.2237A>T (p.Asn746Ile) c.2165A>T (p.Asn722Ile) c.2045A>T (p.Asn682Ile) c.1934A>T (p.Asn645Ile) c.1895A>T (p.Asn632Ile) c.1871A>T (p.Asn624Ile) n.2458A>T n.3094A>T n.2384A>T n.2613A>T n.2361A>T n.2287A>T c.2141A>T (p.Asn714Ile) c.2120A>T (p.Asn707Ile) n.2324A>T n.2250A>T n.2479A>T n.2227A>T n.2153A>T | |
12 | g.48145060T>A | CA384555776 | PFKM | c.2244T>A (p.Asn748Lys) c.2235T>A (p.Asn745Lys) c.2022T>A (p.Asn674Lys) c.1764T>A (p.Asn588Lys) c.2331T>A (p.Asn777Lys) n.2346T>A c.*2290T>A (n.*2290T>A) c.1929T>A (p.Asn643Lys) c.2238T>A (p.Asn746Lys) c.2166T>A (p.Asn722Lys) c.2046T>A (p.Asn682Lys) c.1935T>A (p.Asn645Lys) c.1896T>A (p.Asn632Lys) c.1872T>A (p.Asn624Lys) n.2459T>A n.3095T>A n.2385T>A n.2614T>A n.2362T>A n.2288T>A c.2142T>A (p.Asn714Lys) c.2121T>A (p.Asn707Lys) n.2325T>A n.2251T>A n.2480T>A n.2228T>A n.2154T>A | |
12 | g.48145060T>C | CA479459651 | PFKM | c.2244T>C (p.Asn748=) c.2235T>C (p.Asn745=) c.2022T>C (p.Asn674=) c.1764T>C (p.Asn588=) c.2331T>C (p.Asn777=) n.2346T>C c.*2290T>C (n.*2290T>C) c.1929T>C (p.Asn643=) c.2238T>C (p.Asn746=) c.2166T>C (p.Asn722=) c.2046T>C (p.Asn682=) c.1935T>C (p.Asn645=) c.1896T>C (p.Asn632=) c.1872T>C (p.Asn624=) n.2459T>C n.3095T>C n.2385T>C n.2614T>C n.2362T>C n.2288T>C c.2142T>C (p.Asn714=) c.2121T>C (p.Asn707=) n.2325T>C n.2251T>C n.2480T>C n.2228T>C n.2154T>C | |
12 | g.48145060T>G | CA384555777 | PFKM | c.2244T>G (p.Asn748Lys) c.2235T>G (p.Asn745Lys) c.2022T>G (p.Asn674Lys) c.1764T>G (p.Asn588Lys) c.2331T>G (p.Asn777Lys) n.2346T>G c.*2290T>G (n.*2290T>G) c.1929T>G (p.Asn643Lys) c.2238T>G (p.Asn746Lys) c.2166T>G (p.Asn722Lys) c.2046T>G (p.Asn682Lys) c.1935T>G (p.Asn645Lys) c.1896T>G (p.Asn632Lys) c.1872T>G (p.Asn624Lys) n.2459T>G n.3095T>G n.2385T>G n.2614T>G n.2362T>G n.2288T>G c.2142T>G (p.Asn714Lys) c.2121T>G (p.Asn707Lys) n.2325T>G n.2251T>G n.2480T>G n.2228T>G n.2154T>G | |
12 | g.48145061T>A | CA384555778 | PFKM | c.2245T>A (p.Phe749Ile) c.2236T>A (p.Phe746Ile) c.2023T>A (p.Phe675Ile) c.1765T>A (p.Phe589Ile) c.2332T>A (p.Phe778Ile) n.2347T>A c.*2291T>A (n.*2291T>A) c.1930T>A (p.Phe644Ile) c.2239T>A (p.Phe747Ile) c.2167T>A (p.Phe723Ile) c.2047T>A (p.Phe683Ile) c.1936T>A (p.Phe646Ile) c.1897T>A (p.Phe633Ile) c.1873T>A (p.Phe625Ile) n.2460T>A n.3096T>A n.2386T>A n.2615T>A n.2363T>A n.2289T>A c.2143T>A (p.Phe715Ile) c.2122T>A (p.Phe708Ile) n.2326T>A n.2252T>A n.2481T>A n.2229T>A n.2155T>A | |
12 | g.48145061T>C | CA384555779 | PFKM | c.2245T>C (p.Phe749Leu) c.2236T>C (p.Phe746Leu) c.2023T>C (p.Phe675Leu) c.1765T>C (p.Phe589Leu) c.2332T>C (p.Phe778Leu) n.2347T>C c.*2291T>C (n.*2291T>C) c.1930T>C (p.Phe644Leu) c.2239T>C (p.Phe747Leu) c.2167T>C (p.Phe723Leu) c.2047T>C (p.Phe683Leu) c.1936T>C (p.Phe646Leu) c.1897T>C (p.Phe633Leu) c.1873T>C (p.Phe625Leu) n.2460T>C n.3096T>C n.2386T>C n.2615T>C n.2363T>C n.2289T>C c.2143T>C (p.Phe715Leu) c.2122T>C (p.Phe708Leu) n.2326T>C n.2252T>C n.2481T>C n.2229T>C n.2155T>C | gnomAD v4 |
12 | g.48145061T>G | CA384555780 | PFKM | c.2245T>G (p.Phe749Val) c.2236T>G (p.Phe746Val) c.2023T>G (p.Phe675Val) c.1765T>G (p.Phe589Val) c.2332T>G (p.Phe778Val) n.2347T>G c.*2291T>G (n.*2291T>G) c.1930T>G (p.Phe644Val) c.2239T>G (p.Phe747Val) c.2167T>G (p.Phe723Val) c.2047T>G (p.Phe683Val) c.1936T>G (p.Phe646Val) c.1897T>G (p.Phe633Val) c.1873T>G (p.Phe625Val) n.2460T>G n.3096T>G n.2386T>G n.2615T>G n.2363T>G n.2289T>G c.2143T>G (p.Phe715Val) c.2122T>G (p.Phe708Val) n.2326T>G n.2252T>G n.2481T>G n.2229T>G n.2155T>G | |
12 | g.48145062T>A | CA384555781 | PFKM | c.2246T>A (p.Phe749Tyr) c.2237T>A (p.Phe746Tyr) c.2024T>A (p.Phe675Tyr) c.1766T>A (p.Phe589Tyr) c.2333T>A (p.Phe778Tyr) n.2348T>A c.*2292T>A (n.*2292T>A) c.1931T>A (p.Phe644Tyr) c.2240T>A (p.Phe747Tyr) c.2168T>A (p.Phe723Tyr) c.2048T>A (p.Phe683Tyr) c.1937T>A (p.Phe646Tyr) c.1898T>A (p.Phe633Tyr) c.1874T>A (p.Phe625Tyr) n.2461T>A n.3097T>A n.2387T>A n.2616T>A n.2364T>A n.2290T>A c.2144T>A (p.Phe715Tyr) c.2123T>A (p.Phe708Tyr) n.2327T>A n.2253T>A n.2482T>A n.2230T>A n.2156T>A | |
12 | g.48145062T>C | CA384555782 | PFKM | c.2246T>C (p.Phe749Ser) c.2237T>C (p.Phe746Ser) c.2024T>C (p.Phe675Ser) c.1766T>C (p.Phe589Ser) c.2333T>C (p.Phe778Ser) n.2348T>C c.*2292T>C (n.*2292T>C) c.1931T>C (p.Phe644Ser) c.2240T>C (p.Phe747Ser) c.2168T>C (p.Phe723Ser) c.2048T>C (p.Phe683Ser) c.1937T>C (p.Phe646Ser) c.1898T>C (p.Phe633Ser) c.1874T>C (p.Phe625Ser) n.2461T>C n.3097T>C n.2387T>C n.2616T>C n.2364T>C n.2290T>C c.2144T>C (p.Phe715Ser) c.2123T>C (p.Phe708Ser) n.2327T>C n.2253T>C n.2482T>C n.2230T>C n.2156T>C | |
12 | g.48145062T>G | CA384555783 | PFKM | c.2246T>G (p.Phe749Cys) c.2237T>G (p.Phe746Cys) c.2024T>G (p.Phe675Cys) c.1766T>G (p.Phe589Cys) c.2333T>G (p.Phe778Cys) n.2348T>G c.*2292T>G (n.*2292T>G) c.1931T>G (p.Phe644Cys) c.2240T>G (p.Phe747Cys) c.2168T>G (p.Phe723Cys) c.2048T>G (p.Phe683Cys) c.1937T>G (p.Phe646Cys) c.1898T>G (p.Phe633Cys) c.1874T>G (p.Phe625Cys) n.2461T>G n.3097T>G n.2387T>G n.2616T>G n.2364T>G n.2290T>G c.2144T>G (p.Phe715Cys) c.2123T>G (p.Phe708Cys) n.2327T>G n.2253T>G n.2482T>G n.2230T>G n.2156T>G | |
12 | g.48145063T>A | CA384555784 | PFKM | c.2247T>A (p.Phe749Leu) c.2238T>A (p.Phe746Leu) c.2025T>A (p.Phe675Leu) c.1767T>A (p.Phe589Leu) c.2334T>A (p.Phe778Leu) n.2349T>A c.*2293T>A (n.*2293T>A) c.1932T>A (p.Phe644Leu) c.2241T>A (p.Phe747Leu) c.2169T>A (p.Phe723Leu) c.2049T>A (p.Phe683Leu) c.1938T>A (p.Phe646Leu) c.1899T>A (p.Phe633Leu) c.1875T>A (p.Phe625Leu) n.2462T>A n.3098T>A n.2388T>A n.2617T>A n.2365T>A n.2291T>A c.2145T>A (p.Phe715Leu) c.2124T>A (p.Phe708Leu) n.2328T>A n.2254T>A n.2483T>A n.2231T>A n.2157T>A | |
12 | g.48145063T>C | CA479459664 | PFKM | c.2247T>C (p.Phe749=) c.2238T>C (p.Phe746=) c.2025T>C (p.Phe675=) c.1767T>C (p.Phe589=) c.2334T>C (p.Phe778=) n.2349T>C c.*2293T>C (n.*2293T>C) c.1932T>C (p.Phe644=) c.2241T>C (p.Phe747=) c.2169T>C (p.Phe723=) c.2049T>C (p.Phe683=) c.1938T>C (p.Phe646=) c.1899T>C (p.Phe633=) c.1875T>C (p.Phe625=) n.2462T>C n.3098T>C n.2388T>C n.2617T>C n.2365T>C n.2291T>C c.2145T>C (p.Phe715=) c.2124T>C (p.Phe708=) n.2328T>C n.2254T>C n.2483T>C n.2231T>C n.2157T>C | |
12 | g.48145063T>G | CA384555785 | PFKM | c.2247T>G (p.Phe749Leu) c.2238T>G (p.Phe746Leu) c.2025T>G (p.Phe675Leu) c.1767T>G (p.Phe589Leu) c.2334T>G (p.Phe778Leu) n.2349T>G c.*2293T>G (n.*2293T>G) c.1932T>G (p.Phe644Leu) c.2241T>G (p.Phe747Leu) c.2169T>G (p.Phe723Leu) c.2049T>G (p.Phe683Leu) c.1938T>G (p.Phe646Leu) c.1899T>G (p.Phe633Leu) c.1875T>G (p.Phe625Leu) n.2462T>G n.3098T>G n.2388T>G n.2617T>G n.2365T>G n.2291T>G c.2145T>G (p.Phe715Leu) c.2124T>G (p.Phe708Leu) n.2328T>G n.2254T>G n.2483T>G n.2231T>G n.2157T>G | |
12 | g.48145064G>A | CA384555786 | PFKM | c.2248G>A (p.Ala750Thr) c.2239G>A (p.Ala747Thr) c.2026G>A (p.Ala676Thr) c.1768G>A (p.Ala590Thr) c.2335G>A (p.Ala779Thr) n.2350G>A c.*2294G>A (n.*2294G>A) c.1933G>A (p.Ala645Thr) c.2242G>A (p.Ala748Thr) c.2170G>A (p.Ala724Thr) c.2050G>A (p.Ala684Thr) c.1939G>A (p.Ala647Thr) c.1900G>A (p.Ala634Thr) c.1876G>A (p.Ala626Thr) n.2463G>A n.3099G>A n.2389G>A n.2618G>A n.2366G>A n.2292G>A c.2146G>A (p.Ala716Thr) c.2125G>A (p.Ala709Thr) n.2329G>A n.2255G>A n.2484G>A n.2232G>A n.2158G>A | |
12 | g.48145064G>C | CA384555787 | PFKM | c.2248G>C (p.Ala750Pro) c.2239G>C (p.Ala747Pro) c.2026G>C (p.Ala676Pro) c.1768G>C (p.Ala590Pro) c.2335G>C (p.Ala779Pro) n.2350G>C c.*2294G>C (n.*2294G>C) c.1933G>C (p.Ala645Pro) c.2242G>C (p.Ala748Pro) c.2170G>C (p.Ala724Pro) c.2050G>C (p.Ala684Pro) c.1939G>C (p.Ala647Pro) c.1900G>C (p.Ala634Pro) c.1876G>C (p.Ala626Pro) n.2463G>C n.3099G>C n.2389G>C n.2618G>C n.2366G>C n.2292G>C c.2146G>C (p.Ala716Pro) c.2125G>C (p.Ala709Pro) n.2329G>C n.2255G>C n.2484G>C n.2232G>C n.2158G>C | |
12 | g.48145064G= | CA2034544901 | PFKM | c.2248G= (p.Ala750=) c.2239G= (p.Ala747=) c.2026G= (p.Ala676=) c.1768G= (p.Ala590=) c.2335G= (p.Ala779=) n.2350G= c.*2294G= (n.*2294G=) c.1933G= (p.Ala645=) c.2242G= (p.Ala748=) c.2170G= (p.Ala724=) c.2050G= (p.Ala684=) c.1939G= (p.Ala647=) c.1900G= (p.Ala634=) c.1876G= (p.Ala626=) n.2463G= n.3099G= n.2389G= n.2618G= n.2366G= n.2292G= c.2146G= (p.Ala716=) c.2125G= (p.Ala709=) n.2329G= n.2255G= n.2484G= n.2232G= n.2158G= | |
12 | g.48145064G>T | CA384555788 | PFKM | c.2248G>T (p.Ala750Ser) c.2239G>T (p.Ala747Ser) c.2026G>T (p.Ala676Ser) c.1768G>T (p.Ala590Ser) c.2335G>T (p.Ala779Ser) n.2350G>T c.*2294G>T (n.*2294G>T) c.1933G>T (p.Ala645Ser) c.2242G>T (p.Ala748Ser) c.2170G>T (p.Ala724Ser) c.2050G>T (p.Ala684Ser) c.1939G>T (p.Ala647Ser) c.1900G>T (p.Ala634Ser) c.1876G>T (p.Ala626Ser) n.2463G>T n.3099G>T n.2389G>T n.2618G>T n.2366G>T n.2292G>T c.2146G>T (p.Ala716Ser) c.2125G>T (p.Ala709Ser) n.2329G>T n.2255G>T n.2484G>T n.2232G>T n.2158G>T | dbSNP |
12 | g.48145065C>A | CA384555791 | PFKM | c.2249C>A (p.Ala750Asp) c.2240C>A (p.Ala747Asp) c.2027C>A (p.Ala676Asp) c.1769C>A (p.Ala590Asp) c.2336C>A (p.Ala779Asp) n.2351C>A c.*2295C>A (n.*2295C>A) c.1934C>A (p.Ala645Asp) c.2243C>A (p.Ala748Asp) c.2171C>A (p.Ala724Asp) c.2051C>A (p.Ala684Asp) c.1940C>A (p.Ala647Asp) c.1901C>A (p.Ala634Asp) c.1877C>A (p.Ala626Asp) n.2464C>A n.3100C>A n.2390C>A n.2619C>A n.2367C>A n.2293C>A c.2147C>A (p.Ala716Asp) c.2126C>A (p.Ala709Asp) n.2330C>A n.2256C>A n.2485C>A n.2233C>A n.2159C>A | COSMIC COSMIC |
12 | g.48145065C>G | CA384555790 | PFKM | c.2249C>G (p.Ala750Gly) c.2240C>G (p.Ala747Gly) c.2027C>G (p.Ala676Gly) c.1769C>G (p.Ala590Gly) c.2336C>G (p.Ala779Gly) n.2351C>G c.*2295C>G (n.*2295C>G) c.1934C>G (p.Ala645Gly) c.2243C>G (p.Ala748Gly) c.2171C>G (p.Ala724Gly) c.2051C>G (p.Ala684Gly) c.1940C>G (p.Ala647Gly) c.1901C>G (p.Ala634Gly) c.1877C>G (p.Ala626Gly) n.2464C>G n.3100C>G n.2390C>G n.2619C>G n.2367C>G n.2293C>G c.2147C>G (p.Ala716Gly) c.2126C>G (p.Ala709Gly) n.2330C>G n.2256C>G n.2485C>G n.2233C>G n.2159C>G | |
12 | g.48145065C>T | CA384555789 | PFKM | c.2249C>T (p.Ala750Val) c.2240C>T (p.Ala747Val) c.2027C>T (p.Ala676Val) c.1769C>T (p.Ala590Val) c.2336C>T (p.Ala779Val) n.2351C>T c.*2295C>T (n.*2295C>T) c.1934C>T (p.Ala645Val) c.2243C>T (p.Ala748Val) c.2171C>T (p.Ala724Val) c.2051C>T (p.Ala684Val) c.1940C>T (p.Ala647Val) c.1901C>T (p.Ala634Val) c.1877C>T (p.Ala626Val) n.2464C>T n.3100C>T n.2390C>T n.2619C>T n.2367C>T n.2293C>T c.2147C>T (p.Ala716Val) c.2126C>T (p.Ala709Val) n.2330C>T n.2256C>T n.2485C>T n.2233C>T n.2159C>T | |
12 | g.48145066C>A | CA479459685 | PFKM | c.2250C>A (p.Ala750=) c.2241C>A (p.Ala747=) c.2028C>A (p.Ala676=) c.1770C>A (p.Ala590=) c.2337C>A (p.Ala779=) n.2352C>A c.*2296C>A (n.*2296C>A) c.1935C>A (p.Ala645=) c.2244C>A (p.Ala748=) c.2172C>A (p.Ala724=) c.2052C>A (p.Ala684=) c.1941C>A (p.Ala647=) c.1902C>A (p.Ala634=) c.1878C>A (p.Ala626=) n.2465C>A n.3101C>A n.2391C>A n.2620C>A n.2368C>A n.2294C>A c.2148C>A (p.Ala716=) c.2127C>A (p.Ala709=) n.2331C>A n.2257C>A n.2486C>A n.2234C>A n.2160C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.48145066C= | CA2034544904 | PFKM | c.2250C= (p.Ala750=) c.2241C= (p.Ala747=) c.2028C= (p.Ala676=) c.1770C= (p.Ala590=) c.2337C= (p.Ala779=) n.2352C= c.*2296C= (n.*2296C=) c.1935C= (p.Ala645=) c.2244C= (p.Ala748=) c.2172C= (p.Ala724=) c.2052C= (p.Ala684=) c.1941C= (p.Ala647=) c.1902C= (p.Ala634=) c.1878C= (p.Ala626=) n.2465C= n.3101C= n.2391C= n.2620C= n.2368C= n.2294C= c.2148C= (p.Ala716=) c.2127C= (p.Ala709=) n.2331C= n.2257C= n.2486C= n.2234C= n.2160C= | |
12 | g.48145066C>G | CA479459679 | PFKM | c.2250C>G (p.Ala750=) c.2241C>G (p.Ala747=) c.2028C>G (p.Ala676=) c.1770C>G (p.Ala590=) c.2337C>G (p.Ala779=) n.2352C>G c.*2296C>G (n.*2296C>G) c.1935C>G (p.Ala645=) c.2244C>G (p.Ala748=) c.2172C>G (p.Ala724=) c.2052C>G (p.Ala684=) c.1941C>G (p.Ala647=) c.1902C>G (p.Ala634=) c.1878C>G (p.Ala626=) n.2465C>G n.3101C>G n.2391C>G n.2620C>G n.2368C>G n.2294C>G c.2148C>G (p.Ala716=) c.2127C>G (p.Ala709=) n.2331C>G n.2257C>G n.2486C>G n.2234C>G n.2160C>G | |
12 | g.48145066C>T | CA479459682 | PFKM | c.2250C>T (p.Ala750=) c.2241C>T (p.Ala747=) c.2028C>T (p.Ala676=) c.1770C>T (p.Ala590=) c.2337C>T (p.Ala779=) n.2352C>T c.*2296C>T (n.*2296C>T) c.1935C>T (p.Ala645=) c.2244C>T (p.Ala748=) c.2172C>T (p.Ala724=) c.2052C>T (p.Ala684=) c.1941C>T (p.Ala647=) c.1902C>T (p.Ala634=) c.1878C>T (p.Ala626=) n.2465C>T n.3101C>T n.2391C>T n.2620C>T n.2368C>T n.2294C>T c.2148C>T (p.Ala716=) c.2127C>T (p.Ala709=) n.2331C>T n.2257C>T n.2486C>T n.2234C>T n.2160C>T | |
12 | g.48145067A= | CA2034544905 | PFKM | c.2251A= (p.Thr751=) c.2242A= (p.Thr748=) c.2029A= (p.Thr677=) c.1771A= (p.Thr591=) c.2338A= (p.Thr780=) n.2353A= c.*2297A= (n.*2297A=) c.1936A= (p.Thr646=) c.2245A= (p.Thr749=) c.2173A= (p.Thr725=) c.2053A= (p.Thr685=) c.1942A= (p.Thr648=) c.1903A= (p.Thr635=) c.1879A= (p.Thr627=) n.2466A= n.3102A= n.2392A= n.2621A= n.2369A= n.2295A= c.2149A= (p.Thr717=) c.2128A= (p.Thr710=) n.2332A= n.2258A= n.2487A= n.2235A= n.2161A= | |
12 | g.48145067A>C | CA384555792 | PFKM | c.2251A>C (p.Thr751Pro) c.2242A>C (p.Thr748Pro) c.2029A>C (p.Thr677Pro) c.1771A>C (p.Thr591Pro) c.2338A>C (p.Thr780Pro) n.2353A>C c.*2297A>C (n.*2297A>C) c.1936A>C (p.Thr646Pro) c.2245A>C (p.Thr749Pro) c.2173A>C (p.Thr725Pro) c.2053A>C (p.Thr685Pro) c.1942A>C (p.Thr648Pro) c.1903A>C (p.Thr635Pro) c.1879A>C (p.Thr627Pro) n.2466A>C n.3102A>C n.2392A>C n.2621A>C n.2369A>C n.2295A>C c.2149A>C (p.Thr717Pro) c.2128A>C (p.Thr710Pro) n.2332A>C n.2258A>C n.2487A>C n.2235A>C n.2161A>C | gnomAD v4 |
12 | g.48145067A>G | CA6537513 | PFKM | c.2251A>G (p.Thr751Ala) c.2242A>G (p.Thr748Ala) c.2029A>G (p.Thr677Ala) c.1771A>G (p.Thr591Ala) c.2338A>G (p.Thr780Ala) n.2353A>G c.*2297A>G (n.*2297A>G) c.1936A>G (p.Thr646Ala) c.2245A>G (p.Thr749Ala) c.2173A>G (p.Thr725Ala) c.2053A>G (p.Thr685Ala) c.1942A>G (p.Thr648Ala) c.1903A>G (p.Thr635Ala) c.1879A>G (p.Thr627Ala) n.2466A>G n.3102A>G n.2392A>G n.2621A>G n.2369A>G n.2295A>G c.2149A>G (p.Thr717Ala) c.2128A>G (p.Thr710Ala) n.2332A>G n.2258A>G n.2487A>G n.2235A>G n.2161A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145067A>T | CA384555793 | PFKM | c.2251A>T (p.Thr751Ser) c.2242A>T (p.Thr748Ser) c.2029A>T (p.Thr677Ser) c.1771A>T (p.Thr591Ser) c.2338A>T (p.Thr780Ser) n.2353A>T c.*2297A>T (n.*2297A>T) c.1936A>T (p.Thr646Ser) c.2245A>T (p.Thr749Ser) c.2173A>T (p.Thr725Ser) c.2053A>T (p.Thr685Ser) c.1942A>T (p.Thr648Ser) c.1903A>T (p.Thr635Ser) c.1879A>T (p.Thr627Ser) n.2466A>T n.3102A>T n.2392A>T n.2621A>T n.2369A>T n.2295A>T c.2149A>T (p.Thr717Ser) c.2128A>T (p.Thr710Ser) n.2332A>T n.2258A>T n.2487A>T n.2235A>T n.2161A>T | |
12 | g.48145068C>A | CA384555794 | PFKM | c.2252C>A (p.Thr751Asn) c.2243C>A (p.Thr748Asn) c.2030C>A (p.Thr677Asn) c.1772C>A (p.Thr591Asn) c.2339C>A (p.Thr780Asn) n.2354C>A c.*2298C>A (n.*2298C>A) c.1937C>A (p.Thr646Asn) c.2246C>A (p.Thr749Asn) c.2174C>A (p.Thr725Asn) c.2054C>A (p.Thr685Asn) c.1943C>A (p.Thr648Asn) c.1904C>A (p.Thr635Asn) c.1880C>A (p.Thr627Asn) n.2467C>A n.3103C>A n.2393C>A n.2622C>A n.2370C>A n.2296C>A c.2150C>A (p.Thr717Asn) c.2129C>A (p.Thr710Asn) n.2333C>A n.2259C>A n.2488C>A n.2236C>A n.2162C>A | |
12 | g.48145068C= | CA2034544909 | PFKM | c.2252C= (p.Thr751=) c.2243C= (p.Thr748=) c.2030C= (p.Thr677=) c.1772C= (p.Thr591=) c.2339C= (p.Thr780=) n.2354C= c.*2298C= (n.*2298C=) c.1937C= (p.Thr646=) c.2246C= (p.Thr749=) c.2174C= (p.Thr725=) c.2054C= (p.Thr685=) c.1943C= (p.Thr648=) c.1904C= (p.Thr635=) c.1880C= (p.Thr627=) n.2467C= n.3103C= n.2393C= n.2622C= n.2370C= n.2296C= c.2150C= (p.Thr717=) c.2129C= (p.Thr710=) n.2333C= n.2259C= n.2488C= n.2236C= n.2162C= | |
12 | g.48145068C>G | CA384555795 | PFKM | c.2252C>G (p.Thr751Ser) c.2243C>G (p.Thr748Ser) c.2030C>G (p.Thr677Ser) c.1772C>G (p.Thr591Ser) c.2339C>G (p.Thr780Ser) n.2354C>G c.*2298C>G (n.*2298C>G) c.1937C>G (p.Thr646Ser) c.2246C>G (p.Thr749Ser) c.2174C>G (p.Thr725Ser) c.2054C>G (p.Thr685Ser) c.1943C>G (p.Thr648Ser) c.1904C>G (p.Thr635Ser) c.1880C>G (p.Thr627Ser) n.2467C>G n.3103C>G n.2393C>G n.2622C>G n.2370C>G n.2296C>G c.2150C>G (p.Thr717Ser) c.2129C>G (p.Thr710Ser) n.2333C>G n.2259C>G n.2488C>G n.2236C>G n.2162C>G | |
12 | g.48145068C>T | CA384555796 | PFKM | c.2252C>T (p.Thr751Ile) c.2243C>T (p.Thr748Ile) c.2030C>T (p.Thr677Ile) c.1772C>T (p.Thr591Ile) c.2339C>T (p.Thr780Ile) n.2354C>T c.*2298C>T (n.*2298C>T) c.1937C>T (p.Thr646Ile) c.2246C>T (p.Thr749Ile) c.2174C>T (p.Thr725Ile) c.2054C>T (p.Thr685Ile) c.1943C>T (p.Thr648Ile) c.1904C>T (p.Thr635Ile) c.1880C>T (p.Thr627Ile) n.2467C>T n.3103C>T n.2393C>T n.2622C>T n.2370C>T n.2296C>T c.2150C>T (p.Thr717Ile) c.2129C>T (p.Thr710Ile) n.2333C>T n.2259C>T n.2488C>T n.2236C>T n.2162C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145069T>A | CA479459694 | PFKM | c.2253T>A (p.Thr751=) c.2244T>A (p.Thr748=) c.2031T>A (p.Thr677=) c.1773T>A (p.Thr591=) c.2340T>A (p.Thr780=) n.2355T>A c.*2299T>A (n.*2299T>A) c.1938T>A (p.Thr646=) c.2247T>A (p.Thr749=) c.2175T>A (p.Thr725=) c.2055T>A (p.Thr685=) c.1944T>A (p.Thr648=) c.1905T>A (p.Thr635=) c.1881T>A (p.Thr627=) n.2468T>A n.3104T>A n.2394T>A n.2623T>A n.2371T>A n.2297T>A c.2151T>A (p.Thr717=) c.2130T>A (p.Thr710=) n.2334T>A n.2260T>A n.2489T>A n.2237T>A n.2163T>A | |
12 | g.48145069T>C | CA479459697 | PFKM | c.2253T>C (p.Thr751=) c.2244T>C (p.Thr748=) c.2031T>C (p.Thr677=) c.1773T>C (p.Thr591=) c.2340T>C (p.Thr780=) n.2355T>C c.*2299T>C (n.*2299T>C) c.1938T>C (p.Thr646=) c.2247T>C (p.Thr749=) c.2175T>C (p.Thr725=) c.2055T>C (p.Thr685=) c.1944T>C (p.Thr648=) c.1905T>C (p.Thr635=) c.1881T>C (p.Thr627=) n.2468T>C n.3104T>C n.2394T>C n.2623T>C n.2371T>C n.2297T>C c.2151T>C (p.Thr717=) c.2130T>C (p.Thr710=) n.2334T>C n.2260T>C n.2489T>C n.2237T>C n.2163T>C | |
12 | g.48145069T>G | CA479459698 | PFKM | c.2253T>G (p.Thr751=) c.2244T>G (p.Thr748=) c.2031T>G (p.Thr677=) c.1773T>G (p.Thr591=) c.2340T>G (p.Thr780=) n.2355T>G c.*2299T>G (n.*2299T>G) c.1938T>G (p.Thr646=) c.2247T>G (p.Thr749=) c.2175T>G (p.Thr725=) c.2055T>G (p.Thr685=) c.1944T>G (p.Thr648=) c.1905T>G (p.Thr635=) c.1881T>G (p.Thr627=) n.2468T>G n.3104T>G n.2394T>G n.2623T>G n.2371T>G n.2297T>G c.2151T>G (p.Thr717=) c.2130T>G (p.Thr710=) n.2334T>G n.2260T>G n.2489T>G n.2237T>G n.2163T>G | |
12 | g.48145070A>C | CA384555797 | PFKM | c.2254A>C (p.Lys752Gln) c.2245A>C (p.Lys749Gln) c.2032A>C (p.Lys678Gln) c.1774A>C (p.Lys592Gln) c.2341A>C (p.Lys781Gln) n.2356A>C c.*2300A>C (n.*2300A>C) c.1939A>C (p.Lys647Gln) c.2248A>C (p.Lys750Gln) c.2176A>C (p.Lys726Gln) c.2056A>C (p.Lys686Gln) c.1945A>C (p.Lys649Gln) c.1906A>C (p.Lys636Gln) c.1882A>C (p.Lys628Gln) n.2469A>C n.3105A>C n.2395A>C n.2624A>C n.2372A>C n.2298A>C c.2152A>C (p.Lys718Gln) c.2131A>C (p.Lys711Gln) n.2335A>C n.2261A>C n.2490A>C n.2238A>C n.2164A>C | |
12 | g.48145070A>G | CA384555798 | PFKM | c.2254A>G (p.Lys752Glu) c.2245A>G (p.Lys749Glu) c.2032A>G (p.Lys678Glu) c.1774A>G (p.Lys592Glu) c.2341A>G (p.Lys781Glu) n.2356A>G c.*2300A>G (n.*2300A>G) c.1939A>G (p.Lys647Glu) c.2248A>G (p.Lys750Glu) c.2176A>G (p.Lys726Glu) c.2056A>G (p.Lys686Glu) c.1945A>G (p.Lys649Glu) c.1906A>G (p.Lys636Glu) c.1882A>G (p.Lys628Glu) n.2469A>G n.3105A>G n.2395A>G n.2624A>G n.2372A>G n.2298A>G c.2152A>G (p.Lys718Glu) c.2131A>G (p.Lys711Glu) n.2335A>G n.2261A>G n.2490A>G n.2238A>G n.2164A>G | |
12 | g.48145070A>T | CA384555799 | PFKM | c.2254A>T (p.Lys752Ter) c.2245A>T (p.Lys749Ter) c.2032A>T (p.Lys678Ter) c.1774A>T (p.Lys592Ter) c.2341A>T (p.Lys781Ter) n.2356A>T c.*2300A>T (n.*2300A>T) c.1939A>T (p.Lys647Ter) c.2248A>T (p.Lys750Ter) c.2176A>T (p.Lys726Ter) c.2056A>T (p.Lys686Ter) c.1945A>T (p.Lys649Ter) c.1906A>T (p.Lys636Ter) c.1882A>T (p.Lys628Ter) n.2469A>T n.3105A>T n.2395A>T n.2624A>T n.2372A>T n.2298A>T c.2152A>T (p.Lys718Ter) c.2131A>T (p.Lys711Ter) n.2335A>T n.2261A>T n.2490A>T n.2238A>T n.2164A>T | |
12 | g.48145071A>C | CA384555800 | PFKM | c.2255A>C (p.Lys752Thr) c.2246A>C (p.Lys749Thr) c.2033A>C (p.Lys678Thr) c.1775A>C (p.Lys592Thr) c.2342A>C (p.Lys781Thr) n.2357A>C c.*2301A>C (n.*2301A>C) c.1940A>C (p.Lys647Thr) c.2249A>C (p.Lys750Thr) c.2177A>C (p.Lys726Thr) c.2057A>C (p.Lys686Thr) c.1946A>C (p.Lys649Thr) c.1907A>C (p.Lys636Thr) c.1883A>C (p.Lys628Thr) n.2470A>C n.3106A>C n.2396A>C n.2625A>C n.2373A>C n.2299A>C c.2153A>C (p.Lys718Thr) c.2132A>C (p.Lys711Thr) n.2336A>C n.2262A>C n.2491A>C n.2239A>C n.2165A>C | |
12 | g.48145071A>G | CA384555801 | PFKM | c.2255A>G (p.Lys752Arg) c.2246A>G (p.Lys749Arg) c.2033A>G (p.Lys678Arg) c.1775A>G (p.Lys592Arg) c.2342A>G (p.Lys781Arg) n.2357A>G c.*2301A>G (n.*2301A>G) c.1940A>G (p.Lys647Arg) c.2249A>G (p.Lys750Arg) c.2177A>G (p.Lys726Arg) c.2057A>G (p.Lys686Arg) c.1946A>G (p.Lys649Arg) c.1907A>G (p.Lys636Arg) c.1883A>G (p.Lys628Arg) n.2470A>G n.3106A>G n.2396A>G n.2625A>G n.2373A>G n.2299A>G c.2153A>G (p.Lys718Arg) c.2132A>G (p.Lys711Arg) n.2336A>G n.2262A>G n.2491A>G n.2239A>G n.2165A>G | |
12 | g.48145071A>T | CA384555802 | PFKM | c.2255A>T (p.Lys752Met) c.2246A>T (p.Lys749Met) c.2033A>T (p.Lys678Met) c.1775A>T (p.Lys592Met) c.2342A>T (p.Lys781Met) n.2357A>T c.*2301A>T (n.*2301A>T) c.1940A>T (p.Lys647Met) c.2249A>T (p.Lys750Met) c.2177A>T (p.Lys726Met) c.2057A>T (p.Lys686Met) c.1946A>T (p.Lys649Met) c.1907A>T (p.Lys636Met) c.1883A>T (p.Lys628Met) n.2470A>T n.3106A>T n.2396A>T n.2625A>T n.2373A>T n.2299A>T c.2153A>T (p.Lys718Met) c.2132A>T (p.Lys711Met) n.2336A>T n.2262A>T n.2491A>T n.2239A>T n.2165A>T | |
12 | g.48145072G>A | CA479459703 | PFKM | c.2256G>A (p.Lys752=) c.2247G>A (p.Lys749=) c.2034G>A (p.Lys678=) c.1776G>A (p.Lys592=) c.2343G>A (p.Lys781=) n.2358G>A c.*2302G>A (n.*2302G>A) c.1941G>A (p.Lys647=) c.2250G>A (p.Lys750=) c.2178G>A (p.Lys726=) c.2058G>A (p.Lys686=) c.1947G>A (p.Lys649=) c.1908G>A (p.Lys636=) c.1884G>A (p.Lys628=) n.2471G>A n.3107G>A n.2397G>A n.2626G>A n.2374G>A n.2300G>A c.2154G>A (p.Lys718=) c.2133G>A (p.Lys711=) n.2337G>A n.2263G>A n.2492G>A n.2240G>A n.2166G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145072G>C | CA384555804 | PFKM | c.2256G>C (p.Lys752Asn) c.2247G>C (p.Lys749Asn) c.2034G>C (p.Lys678Asn) c.1776G>C (p.Lys592Asn) c.2343G>C (p.Lys781Asn) n.2358G>C c.*2302G>C (n.*2302G>C) c.1941G>C (p.Lys647Asn) c.2250G>C (p.Lys750Asn) c.2178G>C (p.Lys726Asn) c.2058G>C (p.Lys686Asn) c.1947G>C (p.Lys649Asn) c.1908G>C (p.Lys636Asn) c.1884G>C (p.Lys628Asn) n.2471G>C n.3107G>C n.2397G>C n.2626G>C n.2374G>C n.2300G>C c.2154G>C (p.Lys718Asn) c.2133G>C (p.Lys711Asn) n.2337G>C n.2263G>C n.2492G>C n.2240G>C n.2166G>C | |
12 | g.48145072G= | CA2034544911 | PFKM | c.2256G= (p.Lys752=) c.2247G= (p.Lys749=) c.2034G= (p.Lys678=) c.1776G= (p.Lys592=) c.2343G= (p.Lys781=) n.2358G= c.*2302G= (n.*2302G=) c.1941G= (p.Lys647=) c.2250G= (p.Lys750=) c.2178G= (p.Lys726=) c.2058G= (p.Lys686=) c.1947G= (p.Lys649=) c.1908G= (p.Lys636=) c.1884G= (p.Lys628=) n.2471G= n.3107G= n.2397G= n.2626G= n.2374G= n.2300G= c.2154G= (p.Lys718=) c.2133G= (p.Lys711=) n.2337G= n.2263G= n.2492G= n.2240G= n.2166G= | |
12 | g.48145072G>T | CA384555803 | PFKM | c.2256G>T (p.Lys752Asn) c.2247G>T (p.Lys749Asn) c.2034G>T (p.Lys678Asn) c.1776G>T (p.Lys592Asn) c.2343G>T (p.Lys781Asn) n.2358G>T c.*2302G>T (n.*2302G>T) c.1941G>T (p.Lys647Asn) c.2250G>T (p.Lys750Asn) c.2178G>T (p.Lys726Asn) c.2058G>T (p.Lys686Asn) c.1947G>T (p.Lys649Asn) c.1908G>T (p.Lys636Asn) c.1884G>T (p.Lys628Asn) n.2471G>T n.3107G>T n.2397G>T n.2626G>T n.2374G>T n.2300G>T c.2154G>T (p.Lys718Asn) c.2133G>T (p.Lys711Asn) n.2337G>T n.2263G>T n.2492G>T n.2240G>T n.2166G>T | |
12 | g.48145073A>C | CA384555805 | PFKM | c.2257A>C (p.Met753Leu) c.2248A>C (p.Met750Leu) c.2035A>C (p.Met679Leu) c.1777A>C (p.Met593Leu) c.2344A>C (p.Met782Leu) n.2359A>C c.*2303A>C (n.*2303A>C) c.1942A>C (p.Met648Leu) c.2251A>C (p.Met751Leu) c.2179A>C (p.Met727Leu) c.2059A>C (p.Met687Leu) c.1948A>C (p.Met650Leu) c.1909A>C (p.Met637Leu) c.1885A>C (p.Met629Leu) n.2472A>C n.3108A>C n.2398A>C n.2627A>C n.2375A>C n.2301A>C c.2155A>C (p.Met719Leu) c.2134A>C (p.Met712Leu) n.2338A>C n.2264A>C n.2493A>C n.2241A>C n.2167A>C | |
12 | g.48145073A>G | CA384555806 | PFKM | c.2257A>G (p.Met753Val) c.2248A>G (p.Met750Val) c.2035A>G (p.Met679Val) c.1777A>G (p.Met593Val) c.2344A>G (p.Met782Val) n.2359A>G c.*2303A>G (n.*2303A>G) c.1942A>G (p.Met648Val) c.2251A>G (p.Met751Val) c.2179A>G (p.Met727Val) c.2059A>G (p.Met687Val) c.1948A>G (p.Met650Val) c.1909A>G (p.Met637Val) c.1885A>G (p.Met629Val) n.2472A>G n.3108A>G n.2398A>G n.2627A>G n.2375A>G n.2301A>G c.2155A>G (p.Met719Val) c.2134A>G (p.Met712Val) n.2338A>G n.2264A>G n.2493A>G n.2241A>G n.2167A>G | |
12 | g.48145073A>T | CA384555807 | PFKM | c.2257A>T (p.Met753Leu) c.2248A>T (p.Met750Leu) c.2035A>T (p.Met679Leu) c.1777A>T (p.Met593Leu) c.2344A>T (p.Met782Leu) n.2359A>T c.*2303A>T (n.*2303A>T) c.1942A>T (p.Met648Leu) c.2251A>T (p.Met751Leu) c.2179A>T (p.Met727Leu) c.2059A>T (p.Met687Leu) c.1948A>T (p.Met650Leu) c.1909A>T (p.Met637Leu) c.1885A>T (p.Met629Leu) n.2472A>T n.3108A>T n.2398A>T n.2627A>T n.2375A>T n.2301A>T c.2155A>T (p.Met719Leu) c.2134A>T (p.Met712Leu) n.2338A>T n.2264A>T n.2493A>T n.2241A>T n.2167A>T | |
12 | g.48145074T>A | CA384555808 | PFKM | c.2258T>A (p.Met753Lys) c.2249T>A (p.Met750Lys) c.2036T>A (p.Met679Lys) c.1778T>A (p.Met593Lys) c.2345T>A (p.Met782Lys) n.2360T>A c.*2304T>A (n.*2304T>A) c.1943T>A (p.Met648Lys) c.2252T>A (p.Met751Lys) c.2180T>A (p.Met727Lys) c.2060T>A (p.Met687Lys) c.1949T>A (p.Met650Lys) c.1910T>A (p.Met637Lys) c.1886T>A (p.Met629Lys) n.2473T>A n.3109T>A n.2399T>A n.2628T>A n.2376T>A n.2302T>A c.2156T>A (p.Met719Lys) c.2135T>A (p.Met712Lys) n.2339T>A n.2265T>A n.2494T>A n.2242T>A n.2168T>A | |
12 | g.48145074T>C | CA384555809 | PFKM | c.2258T>C (p.Met753Thr) c.2249T>C (p.Met750Thr) c.2036T>C (p.Met679Thr) c.1778T>C (p.Met593Thr) c.2345T>C (p.Met782Thr) n.2360T>C c.*2304T>C (n.*2304T>C) c.1943T>C (p.Met648Thr) c.2252T>C (p.Met751Thr) c.2180T>C (p.Met727Thr) c.2060T>C (p.Met687Thr) c.1949T>C (p.Met650Thr) c.1910T>C (p.Met637Thr) c.1886T>C (p.Met629Thr) n.2473T>C n.3109T>C n.2399T>C n.2628T>C n.2376T>C n.2302T>C c.2156T>C (p.Met719Thr) c.2135T>C (p.Met712Thr) n.2339T>C n.2265T>C n.2494T>C n.2242T>C n.2168T>C | |
12 | g.48145074T>G | CA384555810 | PFKM | c.2258T>G (p.Met753Arg) c.2249T>G (p.Met750Arg) c.2036T>G (p.Met679Arg) c.1778T>G (p.Met593Arg) c.2345T>G (p.Met782Arg) n.2360T>G c.*2304T>G (n.*2304T>G) c.1943T>G (p.Met648Arg) c.2252T>G (p.Met751Arg) c.2180T>G (p.Met727Arg) c.2060T>G (p.Met687Arg) c.1949T>G (p.Met650Arg) c.1910T>G (p.Met637Arg) c.1886T>G (p.Met629Arg) n.2473T>G n.3109T>G n.2399T>G n.2628T>G n.2376T>G n.2302T>G c.2156T>G (p.Met719Arg) c.2135T>G (p.Met712Arg) n.2339T>G n.2265T>G n.2494T>G n.2242T>G n.2168T>G | |
12 | g.48145075G>A | CA384555811 | PFKM | c.2259G>A (p.Met753Ile) c.2250G>A (p.Met750Ile) c.2037G>A (p.Met679Ile) c.1779G>A (p.Met593Ile) c.2346G>A (p.Met782Ile) n.2361G>A c.*2305G>A (n.*2305G>A) c.1944G>A (p.Met648Ile) c.2253G>A (p.Met751Ile) c.2181G>A (p.Met727Ile) c.2061G>A (p.Met687Ile) c.1950G>A (p.Met650Ile) c.1911G>A (p.Met637Ile) c.1887G>A (p.Met629Ile) n.2474G>A n.3110G>A n.2400G>A n.2629G>A n.2377G>A n.2303G>A c.2157G>A (p.Met719Ile) c.2136G>A (p.Met712Ile) n.2340G>A n.2266G>A n.2495G>A n.2243G>A n.2169G>A | |
12 | g.48145075G>C | CA384555812 | PFKM | c.2259G>C (p.Met753Ile) c.2250G>C (p.Met750Ile) c.2037G>C (p.Met679Ile) c.1779G>C (p.Met593Ile) c.2346G>C (p.Met782Ile) n.2361G>C c.*2305G>C (n.*2305G>C) c.1944G>C (p.Met648Ile) c.2253G>C (p.Met751Ile) c.2181G>C (p.Met727Ile) c.2061G>C (p.Met687Ile) c.1950G>C (p.Met650Ile) c.1911G>C (p.Met637Ile) c.1887G>C (p.Met629Ile) n.2474G>C n.3110G>C n.2400G>C n.2629G>C n.2377G>C n.2303G>C c.2157G>C (p.Met719Ile) c.2136G>C (p.Met712Ile) n.2340G>C n.2266G>C n.2495G>C n.2243G>C n.2169G>C | |
12 | g.48145075G= | CA2034544913 | PFKM | c.2259G= (p.Met753=) c.2250G= (p.Met750=) c.2037G= (p.Met679=) c.1779G= (p.Met593=) c.2346G= (p.Met782=) n.2361G= c.*2305G= (n.*2305G=) c.1944G= (p.Met648=) c.2253G= (p.Met751=) c.2181G= (p.Met727=) c.2061G= (p.Met687=) c.1950G= (p.Met650=) c.1911G= (p.Met637=) c.1887G= (p.Met629=) n.2474G= n.3110G= n.2400G= n.2629G= n.2377G= n.2303G= c.2157G= (p.Met719=) c.2136G= (p.Met712=) n.2340G= n.2266G= n.2495G= n.2243G= n.2169G= | |
12 | g.48145075G>T | CA6537514 | PFKM | c.2259G>T (p.Met753Ile) c.2250G>T (p.Met750Ile) c.2037G>T (p.Met679Ile) c.1779G>T (p.Met593Ile) c.2346G>T (p.Met782Ile) n.2361G>T c.*2305G>T (n.*2305G>T) c.1944G>T (p.Met648Ile) c.2253G>T (p.Met751Ile) c.2181G>T (p.Met727Ile) c.2061G>T (p.Met687Ile) c.1950G>T (p.Met650Ile) c.1911G>T (p.Met637Ile) c.1887G>T (p.Met629Ile) n.2474G>T n.3110G>T n.2400G>T n.2629G>T n.2377G>T n.2303G>T c.2157G>T (p.Met719Ile) c.2136G>T (p.Met712Ile) n.2340G>T n.2266G>T n.2495G>T n.2243G>T n.2169G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145076G>A | CA384555813 | PFKM | c.2260G>A (p.Gly754Ser) c.2251G>A (p.Gly751Ser) c.2038G>A (p.Gly680Ser) c.1780G>A (p.Gly594Ser) c.2347G>A (p.Gly783Ser) n.2362G>A c.*2306G>A (n.*2306G>A) c.1945G>A (p.Gly649Ser) c.2254G>A (p.Gly752Ser) c.2182G>A (p.Gly728Ser) c.2062G>A (p.Gly688Ser) c.1951G>A (p.Gly651Ser) c.1912G>A (p.Gly638Ser) c.1888G>A (p.Gly630Ser) n.2475G>A n.3111G>A n.2401G>A n.2630G>A n.2378G>A n.2304G>A c.2158G>A (p.Gly720Ser) c.2137G>A (p.Gly713Ser) n.2341G>A n.2267G>A n.2496G>A n.2244G>A n.2170G>A | |
12 | g.48145076G>C | CA384555814 | PFKM | c.2260G>C (p.Gly754Arg) c.2251G>C (p.Gly751Arg) c.2038G>C (p.Gly680Arg) c.1780G>C (p.Gly594Arg) c.2347G>C (p.Gly783Arg) n.2362G>C c.*2306G>C (n.*2306G>C) c.1945G>C (p.Gly649Arg) c.2254G>C (p.Gly752Arg) c.2182G>C (p.Gly728Arg) c.2062G>C (p.Gly688Arg) c.1951G>C (p.Gly651Arg) c.1912G>C (p.Gly638Arg) c.1888G>C (p.Gly630Arg) n.2475G>C n.3111G>C n.2401G>C n.2630G>C n.2378G>C n.2304G>C c.2158G>C (p.Gly720Arg) c.2137G>C (p.Gly713Arg) n.2341G>C n.2267G>C n.2496G>C n.2244G>C n.2170G>C | |
12 | g.48145076G= | CA2034544915 | PFKM | c.2260G= (p.Gly754=) c.2251G= (p.Gly751=) c.2038G= (p.Gly680=) c.1780G= (p.Gly594=) c.2347G= (p.Gly783=) n.2362G= c.*2306G= (n.*2306G=) c.1945G= (p.Gly649=) c.2254G= (p.Gly752=) c.2182G= (p.Gly728=) c.2062G= (p.Gly688=) c.1951G= (p.Gly651=) c.1912G= (p.Gly638=) c.1888G= (p.Gly630=) n.2475G= n.3111G= n.2401G= n.2630G= n.2378G= n.2304G= c.2158G= (p.Gly720=) c.2137G= (p.Gly713=) n.2341G= n.2267G= n.2496G= n.2244G= n.2170G= | |
12 | g.48145076G>T | CA6537515 | PFKM | c.2260G>T (p.Gly754Cys) c.2251G>T (p.Gly751Cys) c.2038G>T (p.Gly680Cys) c.1780G>T (p.Gly594Cys) c.2347G>T (p.Gly783Cys) n.2362G>T c.*2306G>T (n.*2306G>T) c.1945G>T (p.Gly649Cys) c.2254G>T (p.Gly752Cys) c.2182G>T (p.Gly728Cys) c.2062G>T (p.Gly688Cys) c.1951G>T (p.Gly651Cys) c.1912G>T (p.Gly638Cys) c.1888G>T (p.Gly630Cys) n.2475G>T n.3111G>T n.2401G>T n.2630G>T n.2378G>T n.2304G>T c.2158G>T (p.Gly720Cys) c.2137G>T (p.Gly713Cys) n.2341G>T n.2267G>T n.2496G>T n.2244G>T n.2170G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145077G>A | CA384555817 | PFKM | c.2261G>A (p.Gly754Asp) c.2252G>A (p.Gly751Asp) c.2039G>A (p.Gly680Asp) c.1781G>A (p.Gly594Asp) c.2348G>A (p.Gly783Asp) n.2363G>A c.*2307G>A (n.*2307G>A) c.1946G>A (p.Gly649Asp) c.2255G>A (p.Gly752Asp) c.2183G>A (p.Gly728Asp) c.2063G>A (p.Gly688Asp) c.1952G>A (p.Gly651Asp) c.1913G>A (p.Gly638Asp) c.1889G>A (p.Gly630Asp) n.2476G>A n.3112G>A n.2402G>A n.2631G>A n.2379G>A n.2305G>A c.2159G>A (p.Gly720Asp) c.2138G>A (p.Gly713Asp) n.2342G>A n.2268G>A n.2497G>A n.2245G>A n.2171G>A | ClinVar |
12 | g.48145077G>C | CA384555816 | PFKM | c.2261G>C (p.Gly754Ala) c.2252G>C (p.Gly751Ala) c.2039G>C (p.Gly680Ala) c.1781G>C (p.Gly594Ala) c.2348G>C (p.Gly783Ala) n.2363G>C c.*2307G>C (n.*2307G>C) c.1946G>C (p.Gly649Ala) c.2255G>C (p.Gly752Ala) c.2183G>C (p.Gly728Ala) c.2063G>C (p.Gly688Ala) c.1952G>C (p.Gly651Ala) c.1913G>C (p.Gly638Ala) c.1889G>C (p.Gly630Ala) n.2476G>C n.3112G>C n.2402G>C n.2631G>C n.2379G>C n.2305G>C c.2159G>C (p.Gly720Ala) c.2138G>C (p.Gly713Ala) n.2342G>C n.2268G>C n.2497G>C n.2245G>C n.2171G>C | |
12 | g.48145077G>T | CA384555815 | PFKM | c.2261G>T (p.Gly754Val) c.2252G>T (p.Gly751Val) c.2039G>T (p.Gly680Val) c.1781G>T (p.Gly594Val) c.2348G>T (p.Gly783Val) n.2363G>T c.*2307G>T (n.*2307G>T) c.1946G>T (p.Gly649Val) c.2255G>T (p.Gly752Val) c.2183G>T (p.Gly728Val) c.2063G>T (p.Gly688Val) c.1952G>T (p.Gly651Val) c.1913G>T (p.Gly638Val) c.1889G>T (p.Gly630Val) n.2476G>T n.3112G>T n.2402G>T n.2631G>T n.2379G>T n.2305G>T c.2159G>T (p.Gly720Val) c.2138G>T (p.Gly713Val) n.2342G>T n.2268G>T n.2497G>T n.2245G>T n.2171G>T | |
12 | g.48145078C>A | CA479459722 | PFKM | c.2262C>A (p.Gly754=) c.2253C>A (p.Gly751=) c.2040C>A (p.Gly680=) c.1782C>A (p.Gly594=) c.2349C>A (p.Gly783=) n.2364C>A c.*2308C>A (n.*2308C>A) c.1947C>A (p.Gly649=) c.2256C>A (p.Gly752=) c.2184C>A (p.Gly728=) c.2064C>A (p.Gly688=) c.1953C>A (p.Gly651=) c.1914C>A (p.Gly638=) c.1890C>A (p.Gly630=) n.2477C>A n.3113C>A n.2403C>A n.2632C>A n.2380C>A n.2306C>A c.2160C>A (p.Gly720=) c.2139C>A (p.Gly713=) n.2343C>A n.2269C>A n.2498C>A n.2246C>A n.2172C>A | |
12 | g.48145078C= | CA2034544921 | PFKM | c.2262C= (p.Gly754=) c.2253C= (p.Gly751=) c.2040C= (p.Gly680=) c.1782C= (p.Gly594=) c.2349C= (p.Gly783=) n.2364C= c.*2308C= (n.*2308C=) c.1947C= (p.Gly649=) c.2256C= (p.Gly752=) c.2184C= (p.Gly728=) c.2064C= (p.Gly688=) c.1953C= (p.Gly651=) c.1914C= (p.Gly638=) c.1890C= (p.Gly630=) n.2477C= n.3113C= n.2403C= n.2632C= n.2380C= n.2306C= c.2160C= (p.Gly720=) c.2139C= (p.Gly713=) n.2343C= n.2269C= n.2498C= n.2246C= n.2172C= | |
12 | g.48145078C>G | CA479459724 | PFKM | c.2262C>G (p.Gly754=) c.2253C>G (p.Gly751=) c.2040C>G (p.Gly680=) c.1782C>G (p.Gly594=) c.2349C>G (p.Gly783=) n.2364C>G c.*2308C>G (n.*2308C>G) c.1947C>G (p.Gly649=) c.2256C>G (p.Gly752=) c.2184C>G (p.Gly728=) c.2064C>G (p.Gly688=) c.1953C>G (p.Gly651=) c.1914C>G (p.Gly638=) c.1890C>G (p.Gly630=) n.2477C>G n.3113C>G n.2403C>G n.2632C>G n.2380C>G n.2306C>G c.2160C>G (p.Gly720=) c.2139C>G (p.Gly713=) n.2343C>G n.2269C>G n.2498C>G n.2246C>G n.2172C>G | |
12 | g.48145078C>T | CA6537516 | PFKM | c.2262C>T (p.Gly754=) c.2253C>T (p.Gly751=) c.2040C>T (p.Gly680=) c.1782C>T (p.Gly594=) c.2349C>T (p.Gly783=) n.2364C>T c.*2308C>T (n.*2308C>T) c.1947C>T (p.Gly649=) c.2256C>T (p.Gly752=) c.2184C>T (p.Gly728=) c.2064C>T (p.Gly688=) c.1953C>T (p.Gly651=) c.1914C>T (p.Gly638=) c.1890C>T (p.Gly630=) n.2477C>T n.3113C>T n.2403C>T n.2632C>T n.2380C>T n.2306C>T c.2160C>T (p.Gly720=) c.2139C>T (p.Gly713=) n.2343C>T n.2269C>T n.2498C>T n.2246C>T n.2172C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48145079G>A | CA6537517 | PFKM | c.2263G>A (p.Ala755Thr) c.2254G>A (p.Ala752Thr) c.2041G>A (p.Ala681Thr) c.1783G>A (p.Ala595Thr) c.2350G>A (p.Ala784Thr) n.2365G>A c.*2309G>A (n.*2309G>A) c.1948G>A (p.Ala650Thr) c.2257G>A (p.Ala753Thr) c.2185G>A (p.Ala729Thr) c.2065G>A (p.Ala689Thr) c.1954G>A (p.Ala652Thr) c.1915G>A (p.Ala639Thr) c.1891G>A (p.Ala631Thr) n.2478G>A n.3114G>A n.2404G>A n.2633G>A n.2381G>A n.2307G>A c.2161G>A (p.Ala721Thr) c.2140G>A (p.Ala714Thr) n.2344G>A n.2270G>A n.2499G>A n.2247G>A n.2173G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.48145079G>C | CA384555818 | PFKM | c.2263G>C (p.Ala755Pro) c.2254G>C (p.Ala752Pro) c.2041G>C (p.Ala681Pro) c.1783G>C (p.Ala595Pro) c.2350G>C (p.Ala784Pro) n.2365G>C c.*2309G>C (n.*2309G>C) c.1948G>C (p.Ala650Pro) c.2257G>C (p.Ala753Pro) c.2185G>C (p.Ala729Pro) c.2065G>C (p.Ala689Pro) c.1954G>C (p.Ala652Pro) c.1915G>C (p.Ala639Pro) c.1891G>C (p.Ala631Pro) n.2478G>C n.3114G>C n.2404G>C n.2633G>C n.2381G>C n.2307G>C c.2161G>C (p.Ala721Pro) c.2140G>C (p.Ala714Pro) n.2344G>C n.2270G>C n.2499G>C n.2247G>C n.2173G>C | |
12 | g.48145079G= | CA2034544927 | PFKM | c.2263G= (p.Ala755=) c.2254G= (p.Ala752=) c.2041G= (p.Ala681=) c.1783G= (p.Ala595=) c.2350G= (p.Ala784=) n.2365G= c.*2309G= (n.*2309G=) c.1948G= (p.Ala650=) c.2257G= (p.Ala753=) c.2185G= (p.Ala729=) c.2065G= (p.Ala689=) c.1954G= (p.Ala652=) c.1915G= (p.Ala639=) c.1891G= (p.Ala631=) n.2478G= n.3114G= n.2404G= n.2633G= n.2381G= n.2307G= c.2161G= (p.Ala721=) c.2140G= (p.Ala714=) n.2344G= n.2270G= n.2499G= n.2247G= n.2173G= | |
12 | g.48145079G>T | CA384555819 | PFKM | c.2263G>T (p.Ala755Ser) c.2254G>T (p.Ala752Ser) c.2041G>T (p.Ala681Ser) c.1783G>T (p.Ala595Ser) c.2350G>T (p.Ala784Ser) n.2365G>T c.*2309G>T (n.*2309G>T) c.1948G>T (p.Ala650Ser) c.2257G>T (p.Ala753Ser) c.2185G>T (p.Ala729Ser) c.2065G>T (p.Ala689Ser) c.1954G>T (p.Ala652Ser) c.1915G>T (p.Ala639Ser) c.1891G>T (p.Ala631Ser) n.2478G>T n.3114G>T n.2404G>T n.2633G>T n.2381G>T n.2307G>T c.2161G>T (p.Ala721Ser) c.2140G>T (p.Ala714Ser) n.2344G>T n.2270G>T n.2499G>T n.2247G>T n.2173G>T | |
12 | g.48145080C>A | CA384555820 | PFKM | c.2264C>A (p.Ala755Asp) c.2255C>A (p.Ala752Asp) c.2042C>A (p.Ala681Asp) c.1784C>A (p.Ala595Asp) c.2351C>A (p.Ala784Asp) n.2366C>A c.*2310C>A (n.*2310C>A) c.1949C>A (p.Ala650Asp) c.2258C>A (p.Ala753Asp) c.2186C>A (p.Ala729Asp) c.2066C>A (p.Ala689Asp) c.1955C>A (p.Ala652Asp) c.1916C>A (p.Ala639Asp) c.1892C>A (p.Ala631Asp) n.2479C>A n.3115C>A n.2405C>A n.2634C>A n.2382C>A n.2308C>A c.2162C>A (p.Ala721Asp) c.2141C>A (p.Ala714Asp) n.2345C>A n.2271C>A n.2500C>A n.2248C>A n.2174C>A | |
12 | g.48145080C= | CA2034544933 | PFKM | c.2264C= (p.Ala755=) c.2255C= (p.Ala752=) c.2042C= (p.Ala681=) c.1784C= (p.Ala595=) c.2351C= (p.Ala784=) n.2366C= c.*2310C= (n.*2310C=) c.1949C= (p.Ala650=) c.2258C= (p.Ala753=) c.2186C= (p.Ala729=) c.2066C= (p.Ala689=) c.1955C= (p.Ala652=) c.1916C= (p.Ala639=) c.1892C= (p.Ala631=) n.2479C= n.3115C= n.2405C= n.2634C= n.2382C= n.2308C= c.2162C= (p.Ala721=) c.2141C= (p.Ala714=) n.2345C= n.2271C= n.2500C= n.2248C= n.2174C= | |
12 | g.48145080C>G | CA6537518 | PFKM | c.2264C>G (p.Ala755Gly) c.2255C>G (p.Ala752Gly) c.2042C>G (p.Ala681Gly) c.1784C>G (p.Ala595Gly) c.2351C>G (p.Ala784Gly) n.2366C>G c.*2310C>G (n.*2310C>G) c.1949C>G (p.Ala650Gly) c.2258C>G (p.Ala753Gly) c.2186C>G (p.Ala729Gly) c.2066C>G (p.Ala689Gly) c.1955C>G (p.Ala652Gly) c.1916C>G (p.Ala639Gly) c.1892C>G (p.Ala631Gly) n.2479C>G n.3115C>G n.2405C>G n.2634C>G n.2382C>G n.2308C>G c.2162C>G (p.Ala721Gly) c.2141C>G (p.Ala714Gly) n.2345C>G n.2271C>G n.2500C>G n.2248C>G n.2174C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145080C>T | CA6537519 | PFKM | c.2264C>T (p.Ala755Val) c.2255C>T (p.Ala752Val) c.2042C>T (p.Ala681Val) c.1784C>T (p.Ala595Val) c.2351C>T (p.Ala784Val) n.2366C>T c.*2310C>T (n.*2310C>T) c.1949C>T (p.Ala650Val) c.2258C>T (p.Ala753Val) c.2186C>T (p.Ala729Val) c.2066C>T (p.Ala689Val) c.1955C>T (p.Ala652Val) c.1916C>T (p.Ala639Val) c.1892C>T (p.Ala631Val) n.2479C>T n.3115C>T n.2405C>T n.2634C>T n.2382C>T n.2308C>T c.2162C>T (p.Ala721Val) c.2141C>T (p.Ala714Val) n.2345C>T n.2271C>T n.2500C>T n.2248C>T n.2174C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145081C>A | CA479459734 | PFKM | c.2265C>A (p.Ala755=) c.2256C>A (p.Ala752=) c.2043C>A (p.Ala681=) c.1785C>A (p.Ala595=) c.2352C>A (p.Ala784=) n.2367C>A c.*2311C>A (n.*2311C>A) c.1950C>A (p.Ala650=) c.2259C>A (p.Ala753=) c.2187C>A (p.Ala729=) c.2067C>A (p.Ala689=) c.1956C>A (p.Ala652=) c.1917C>A (p.Ala639=) c.1893C>A (p.Ala631=) n.2480C>A n.3116C>A n.2406C>A n.2635C>A n.2383C>A n.2309C>A c.2163C>A (p.Ala721=) c.2142C>A (p.Ala714=) n.2346C>A n.2272C>A n.2501C>A n.2249C>A n.2175C>A | ClinVar |
12 | g.48145081C>G | CA479459736 | PFKM | c.2265C>G (p.Ala755=) c.2256C>G (p.Ala752=) c.2043C>G (p.Ala681=) c.1785C>G (p.Ala595=) c.2352C>G (p.Ala784=) n.2367C>G c.*2311C>G (n.*2311C>G) c.1950C>G (p.Ala650=) c.2259C>G (p.Ala753=) c.2187C>G (p.Ala729=) c.2067C>G (p.Ala689=) c.1956C>G (p.Ala652=) c.1917C>G (p.Ala639=) c.1893C>G (p.Ala631=) n.2480C>G n.3116C>G n.2406C>G n.2635C>G n.2383C>G n.2309C>G c.2163C>G (p.Ala721=) c.2142C>G (p.Ala714=) n.2346C>G n.2272C>G n.2501C>G n.2249C>G n.2175C>G | |
12 | g.48145081C>T | CA479459739 | PFKM | c.2265C>T (p.Ala755=) c.2256C>T (p.Ala752=) c.2043C>T (p.Ala681=) c.1785C>T (p.Ala595=) c.2352C>T (p.Ala784=) n.2367C>T c.*2311C>T (n.*2311C>T) c.1950C>T (p.Ala650=) c.2259C>T (p.Ala753=) c.2187C>T (p.Ala729=) c.2067C>T (p.Ala689=) c.1956C>T (p.Ala652=) c.1917C>T (p.Ala639=) c.1893C>T (p.Ala631=) n.2480C>T n.3116C>T n.2406C>T n.2635C>T n.2383C>T n.2309C>T c.2163C>T (p.Ala721=) c.2142C>T (p.Ala714=) n.2346C>T n.2272C>T n.2501C>T n.2249C>T n.2175C>T | ClinVar |
12 | g.48145082A>C | CA384555821 | PFKM | c.2266A>C (p.Lys756Gln) c.2257A>C (p.Lys753Gln) c.2044A>C (p.Lys682Gln) c.1786A>C (p.Lys596Gln) c.2353A>C (p.Lys785Gln) n.2368A>C c.*2312A>C (n.*2312A>C) c.1951A>C (p.Lys651Gln) c.2260A>C (p.Lys754Gln) c.2188A>C (p.Lys730Gln) c.2068A>C (p.Lys690Gln) c.1957A>C (p.Lys653Gln) c.1918A>C (p.Lys640Gln) c.1894A>C (p.Lys632Gln) n.2481A>C n.3117A>C n.2407A>C n.2636A>C n.2384A>C n.2310A>C c.2164A>C (p.Lys722Gln) c.2143A>C (p.Lys715Gln) n.2347A>C n.2273A>C n.2502A>C n.2250A>C n.2176A>C | |
12 | g.48145082A>G | CA384555822 | PFKM | c.2266A>G (p.Lys756Glu) c.2257A>G (p.Lys753Glu) c.2044A>G (p.Lys682Glu) c.1786A>G (p.Lys596Glu) c.2353A>G (p.Lys785Glu) n.2368A>G c.*2312A>G (n.*2312A>G) c.1951A>G (p.Lys651Glu) c.2260A>G (p.Lys754Glu) c.2188A>G (p.Lys730Glu) c.2068A>G (p.Lys690Glu) c.1957A>G (p.Lys653Glu) c.1918A>G (p.Lys640Glu) c.1894A>G (p.Lys632Glu) n.2481A>G n.3117A>G n.2407A>G n.2636A>G n.2384A>G n.2310A>G c.2164A>G (p.Lys722Glu) c.2143A>G (p.Lys715Glu) n.2347A>G n.2273A>G n.2502A>G n.2250A>G n.2176A>G | |
12 | g.48145082A>T | CA384555823 | PFKM | c.2266A>T (p.Lys756Ter) c.2257A>T (p.Lys753Ter) c.2044A>T (p.Lys682Ter) c.1786A>T (p.Lys596Ter) c.2353A>T (p.Lys785Ter) n.2368A>T c.*2312A>T (n.*2312A>T) c.1951A>T (p.Lys651Ter) c.2260A>T (p.Lys754Ter) c.2188A>T (p.Lys730Ter) c.2068A>T (p.Lys690Ter) c.1957A>T (p.Lys653Ter) c.1918A>T (p.Lys640Ter) c.1894A>T (p.Lys632Ter) n.2481A>T n.3117A>T n.2407A>T n.2636A>T n.2384A>T n.2310A>T c.2164A>T (p.Lys722Ter) c.2143A>T (p.Lys715Ter) n.2347A>T n.2273A>T n.2502A>T n.2250A>T n.2176A>T | |
12 | g.48145083A>C | CA384555824 | PFKM | c.2267A>C (p.Lys756Thr) c.2258A>C (p.Lys753Thr) c.2045A>C (p.Lys682Thr) c.1787A>C (p.Lys596Thr) c.2354A>C (p.Lys785Thr) n.2369A>C c.*2313A>C (n.*2313A>C) c.1952A>C (p.Lys651Thr) c.2261A>C (p.Lys754Thr) c.2189A>C (p.Lys730Thr) c.2069A>C (p.Lys690Thr) c.1958A>C (p.Lys653Thr) c.1919A>C (p.Lys640Thr) c.1895A>C (p.Lys632Thr) n.2482A>C n.3118A>C n.2408A>C n.2637A>C n.2385A>C n.2311A>C c.2165A>C (p.Lys722Thr) c.2144A>C (p.Lys715Thr) n.2348A>C n.2274A>C n.2503A>C n.2251A>C n.2177A>C | gnomAD v4 |
12 | g.48145083A>G | CA384555825 | PFKM | c.2267A>G (p.Lys756Arg) c.2258A>G (p.Lys753Arg) c.2045A>G (p.Lys682Arg) c.1787A>G (p.Lys596Arg) c.2354A>G (p.Lys785Arg) n.2369A>G c.*2313A>G (n.*2313A>G) c.1952A>G (p.Lys651Arg) c.2261A>G (p.Lys754Arg) c.2189A>G (p.Lys730Arg) c.2069A>G (p.Lys690Arg) c.1958A>G (p.Lys653Arg) c.1919A>G (p.Lys640Arg) c.1895A>G (p.Lys632Arg) n.2482A>G n.3118A>G n.2408A>G n.2637A>G n.2385A>G n.2311A>G c.2165A>G (p.Lys722Arg) c.2144A>G (p.Lys715Arg) n.2348A>G n.2274A>G n.2503A>G n.2251A>G n.2177A>G | |
12 | g.48145083A>T | CA384555826 | PFKM | c.2267A>T (p.Lys756Met) c.2258A>T (p.Lys753Met) c.2045A>T (p.Lys682Met) c.1787A>T (p.Lys596Met) c.2354A>T (p.Lys785Met) n.2369A>T c.*2313A>T (n.*2313A>T) c.1952A>T (p.Lys651Met) c.2261A>T (p.Lys754Met) c.2189A>T (p.Lys730Met) c.2069A>T (p.Lys690Met) c.1958A>T (p.Lys653Met) c.1919A>T (p.Lys640Met) c.1895A>T (p.Lys632Met) n.2482A>T n.3118A>T n.2408A>T n.2637A>T n.2385A>T n.2311A>T c.2165A>T (p.Lys722Met) c.2144A>T (p.Lys715Met) n.2348A>T n.2274A>T n.2503A>T n.2251A>T n.2177A>T | |
12 | g.48145085_48145144del | CA2697559257 | PFKM | c.2269_2314+14del c.2260_2305+14del c.2047_2092+14del c.1789_1834+14del c.2356_2401+14del n.2371_2416+14del c.*2315_*2360+14del c.1954_1999+14del c.2263_2308+14del c.2191_2236+14del c.2071_2116+14del c.1960_2005+14del c.1921_1966+14del c.1897_1942+14del n.2484_2529+14del n.3120_3165+14del n.2410_2455+14del n.2639_2684+14del n.2387_2432+14del n.2313_2358+14del c.2167_2212+14del c.2146_2191+14del n.2350_2395+14del n.2276_2321+14del n.2505_2550+14del n.2253_2298+14del n.2179_2224+14del | ClinVar |
12 | g.48145084G>A | CA479459748 | PFKM | c.2268G>A (p.Lys756=) c.2259G>A (p.Lys753=) c.2046G>A (p.Lys682=) c.1788G>A (p.Lys596=) c.2355G>A (p.Lys785=) n.2370G>A c.*2314G>A (n.*2314G>A) c.1953G>A (p.Lys651=) c.2262G>A (p.Lys754=) c.2190G>A (p.Lys730=) c.2070G>A (p.Lys690=) c.1959G>A (p.Lys653=) c.1920G>A (p.Lys640=) c.1896G>A (p.Lys632=) n.2483G>A n.3119G>A n.2409G>A n.2638G>A n.2386G>A n.2312G>A c.2166G>A (p.Lys722=) c.2145G>A (p.Lys715=) n.2349G>A n.2275G>A n.2504G>A n.2252G>A n.2178G>A | ClinVar dbSNP gnomAD v4 |
12 | g.48145084G>C | CA384555827 | PFKM | c.2268G>C (p.Lys756Asn) c.2259G>C (p.Lys753Asn) c.2046G>C (p.Lys682Asn) c.1788G>C (p.Lys596Asn) c.2355G>C (p.Lys785Asn) n.2370G>C c.*2314G>C (n.*2314G>C) c.1953G>C (p.Lys651Asn) c.2262G>C (p.Lys754Asn) c.2190G>C (p.Lys730Asn) c.2070G>C (p.Lys690Asn) c.1959G>C (p.Lys653Asn) c.1920G>C (p.Lys640Asn) c.1896G>C (p.Lys632Asn) n.2483G>C n.3119G>C n.2409G>C n.2638G>C n.2386G>C n.2312G>C c.2166G>C (p.Lys722Asn) c.2145G>C (p.Lys715Asn) n.2349G>C n.2275G>C n.2504G>C n.2252G>C n.2178G>C | |
12 | g.48145084G= | CA2034544936 | PFKM | c.2268G= (p.Lys756=) c.2259G= (p.Lys753=) c.2046G= (p.Lys682=) c.1788G= (p.Lys596=) c.2355G= (p.Lys785=) n.2370G= c.*2314G= (n.*2314G=) c.1953G= (p.Lys651=) c.2262G= (p.Lys754=) c.2190G= (p.Lys730=) c.2070G= (p.Lys690=) c.1959G= (p.Lys653=) c.1920G= (p.Lys640=) c.1896G= (p.Lys632=) n.2483G= n.3119G= n.2409G= n.2638G= n.2386G= n.2312G= c.2166G= (p.Lys722=) c.2145G= (p.Lys715=) n.2349G= n.2275G= n.2504G= n.2252G= n.2178G= | |
12 | g.48145084G>T | CA384555828 | PFKM | c.2268G>T (p.Lys756Asn) c.2259G>T (p.Lys753Asn) c.2046G>T (p.Lys682Asn) c.1788G>T (p.Lys596Asn) c.2355G>T (p.Lys785Asn) n.2370G>T c.*2314G>T (n.*2314G>T) c.1953G>T (p.Lys651Asn) c.2262G>T (p.Lys754Asn) c.2190G>T (p.Lys730Asn) c.2070G>T (p.Lys690Asn) c.1959G>T (p.Lys653Asn) c.1920G>T (p.Lys640Asn) c.1896G>T (p.Lys632Asn) n.2483G>T n.3119G>T n.2409G>T n.2638G>T n.2386G>T n.2312G>T c.2166G>T (p.Lys722Asn) c.2145G>T (p.Lys715Asn) n.2349G>T n.2275G>T n.2504G>T n.2252G>T n.2178G>T | |
12 | g.48145085G>A | CA384555829 | PFKM | c.2269G>A (p.Ala757Thr) c.2260G>A (p.Ala754Thr) c.2047G>A (p.Ala683Thr) c.1789G>A (p.Ala597Thr) c.2356G>A (p.Ala786Thr) n.2371G>A c.*2315G>A (n.*2315G>A) c.1954G>A (p.Ala652Thr) c.2263G>A (p.Ala755Thr) c.2191G>A (p.Ala731Thr) c.2071G>A (p.Ala691Thr) c.1960G>A (p.Ala654Thr) c.1921G>A (p.Ala641Thr) c.1897G>A (p.Ala633Thr) n.2484G>A n.3120G>A n.2410G>A n.2639G>A n.2387G>A n.2313G>A c.2167G>A (p.Ala723Thr) c.2146G>A (p.Ala716Thr) n.2350G>A n.2276G>A n.2505G>A n.2253G>A n.2179G>A | |
12 | g.48145085G>C | CA384555830 | PFKM | c.2269G>C (p.Ala757Pro) c.2260G>C (p.Ala754Pro) c.2047G>C (p.Ala683Pro) c.1789G>C (p.Ala597Pro) c.2356G>C (p.Ala786Pro) n.2371G>C c.*2315G>C (n.*2315G>C) c.1954G>C (p.Ala652Pro) c.2263G>C (p.Ala755Pro) c.2191G>C (p.Ala731Pro) c.2071G>C (p.Ala691Pro) c.1960G>C (p.Ala654Pro) c.1921G>C (p.Ala641Pro) c.1897G>C (p.Ala633Pro) n.2484G>C n.3120G>C n.2410G>C n.2639G>C n.2387G>C n.2313G>C c.2167G>C (p.Ala723Pro) c.2146G>C (p.Ala716Pro) n.2350G>C n.2276G>C n.2505G>C n.2253G>C n.2179G>C | |
12 | g.48145085G>T | CA384555831 | PFKM | c.2269G>T (p.Ala757Ser) c.2260G>T (p.Ala754Ser) c.2047G>T (p.Ala683Ser) c.1789G>T (p.Ala597Ser) c.2356G>T (p.Ala786Ser) n.2371G>T c.*2315G>T (n.*2315G>T) c.1954G>T (p.Ala652Ser) c.2263G>T (p.Ala755Ser) c.2191G>T (p.Ala731Ser) c.2071G>T (p.Ala691Ser) c.1960G>T (p.Ala654Ser) c.1921G>T (p.Ala641Ser) c.1897G>T (p.Ala633Ser) n.2484G>T n.3120G>T n.2410G>T n.2639G>T n.2387G>T n.2313G>T c.2167G>T (p.Ala723Ser) c.2146G>T (p.Ala716Ser) n.2350G>T n.2276G>T n.2505G>T n.2253G>T n.2179G>T | gnomAD v4 |
12 | g.48145086C>A | CA384555832 | PFKM | c.2270C>A (p.Ala757Asp) c.2261C>A (p.Ala754Asp) c.2048C>A (p.Ala683Asp) c.1790C>A (p.Ala597Asp) c.2357C>A (p.Ala786Asp) n.2372C>A c.*2316C>A (n.*2316C>A) c.1955C>A (p.Ala652Asp) c.2264C>A (p.Ala755Asp) c.2192C>A (p.Ala731Asp) c.2072C>A (p.Ala691Asp) c.1961C>A (p.Ala654Asp) c.1922C>A (p.Ala641Asp) c.1898C>A (p.Ala633Asp) n.2485C>A n.3121C>A n.2411C>A n.2640C>A n.2388C>A n.2314C>A c.2168C>A (p.Ala723Asp) c.2147C>A (p.Ala716Asp) n.2351C>A n.2277C>A n.2506C>A n.2254C>A n.2180C>A | gnomAD v4 |
12 | g.48145086C>G | CA384555833 | PFKM | c.2270C>G (p.Ala757Gly) c.2261C>G (p.Ala754Gly) c.2048C>G (p.Ala683Gly) c.1790C>G (p.Ala597Gly) c.2357C>G (p.Ala786Gly) n.2372C>G c.*2316C>G (n.*2316C>G) c.1955C>G (p.Ala652Gly) c.2264C>G (p.Ala755Gly) c.2192C>G (p.Ala731Gly) c.2072C>G (p.Ala691Gly) c.1961C>G (p.Ala654Gly) c.1922C>G (p.Ala641Gly) c.1898C>G (p.Ala633Gly) n.2485C>G n.3121C>G n.2411C>G n.2640C>G n.2388C>G n.2314C>G c.2168C>G (p.Ala723Gly) c.2147C>G (p.Ala716Gly) n.2351C>G n.2277C>G n.2506C>G n.2254C>G n.2180C>G | |
12 | g.48145086C>T | CA384555834 | PFKM | c.2270C>T (p.Ala757Val) c.2261C>T (p.Ala754Val) c.2048C>T (p.Ala683Val) c.1790C>T (p.Ala597Val) c.2357C>T (p.Ala786Val) n.2372C>T c.*2316C>T (n.*2316C>T) c.1955C>T (p.Ala652Val) c.2264C>T (p.Ala755Val) c.2192C>T (p.Ala731Val) c.2072C>T (p.Ala691Val) c.1961C>T (p.Ala654Val) c.1922C>T (p.Ala641Val) c.1898C>T (p.Ala633Val) n.2485C>T n.3121C>T n.2411C>T n.2640C>T n.2388C>T n.2314C>T c.2168C>T (p.Ala723Val) c.2147C>T (p.Ala716Val) n.2351C>T n.2277C>T n.2506C>T n.2254C>T n.2180C>T | |
12 | g.48145087T>A | CA479459757 | PFKM | c.2271T>A (p.Ala757=) c.2262T>A (p.Ala754=) c.2049T>A (p.Ala683=) c.1791T>A (p.Ala597=) c.2358T>A (p.Ala786=) n.2373T>A c.*2317T>A (n.*2317T>A) c.1956T>A (p.Ala652=) c.2265T>A (p.Ala755=) c.2193T>A (p.Ala731=) c.2073T>A (p.Ala691=) c.1962T>A (p.Ala654=) c.1923T>A (p.Ala641=) c.1899T>A (p.Ala633=) n.2486T>A n.3122T>A n.2412T>A n.2641T>A n.2389T>A n.2315T>A c.2169T>A (p.Ala723=) c.2148T>A (p.Ala716=) n.2352T>A n.2278T>A n.2507T>A n.2255T>A n.2181T>A | dbSNP |
12 | g.48145087T>C | CA479459760 | PFKM | c.2271T>C (p.Ala757=) c.2262T>C (p.Ala754=) c.2049T>C (p.Ala683=) c.1791T>C (p.Ala597=) c.2358T>C (p.Ala786=) n.2373T>C c.*2317T>C (n.*2317T>C) c.1956T>C (p.Ala652=) c.2265T>C (p.Ala755=) c.2193T>C (p.Ala731=) c.2073T>C (p.Ala691=) c.1962T>C (p.Ala654=) c.1923T>C (p.Ala641=) c.1899T>C (p.Ala633=) n.2486T>C n.3122T>C n.2412T>C n.2641T>C n.2389T>C n.2315T>C c.2169T>C (p.Ala723=) c.2148T>C (p.Ala716=) n.2352T>C n.2278T>C n.2507T>C n.2255T>C n.2181T>C | gnomAD v4 |
12 | g.48145087T>G | CA479459758 | PFKM | c.2271T>G (p.Ala757=) c.2262T>G (p.Ala754=) c.2049T>G (p.Ala683=) c.1791T>G (p.Ala597=) c.2358T>G (p.Ala786=) n.2373T>G c.*2317T>G (n.*2317T>G) c.1956T>G (p.Ala652=) c.2265T>G (p.Ala755=) c.2193T>G (p.Ala731=) c.2073T>G (p.Ala691=) c.1962T>G (p.Ala654=) c.1923T>G (p.Ala641=) c.1899T>G (p.Ala633=) n.2486T>G n.3122T>G n.2412T>G n.2641T>G n.2389T>G n.2315T>G c.2169T>G (p.Ala723=) c.2148T>G (p.Ala716=) n.2352T>G n.2278T>G n.2507T>G n.2255T>G n.2181T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145087T= | CA2034544938 | PFKM | c.2271T= (p.Ala757=) c.2262T= (p.Ala754=) c.2049T= (p.Ala683=) c.1791T= (p.Ala597=) c.2358T= (p.Ala786=) n.2373T= c.*2317T= (n.*2317T=) c.1956T= (p.Ala652=) c.2265T= (p.Ala755=) c.2193T= (p.Ala731=) c.2073T= (p.Ala691=) c.1962T= (p.Ala654=) c.1923T= (p.Ala641=) c.1899T= (p.Ala633=) n.2486T= n.3122T= n.2412T= n.2641T= n.2389T= n.2315T= c.2169T= (p.Ala723=) c.2148T= (p.Ala716=) n.2352T= n.2278T= n.2507T= n.2255T= n.2181T= | |
12 | g.48145088A>C | CA384555837 | PFKM | c.2272A>C (p.Met758Leu) c.2263A>C (p.Met755Leu) c.2050A>C (p.Met684Leu) c.1792A>C (p.Met598Leu) c.2359A>C (p.Met787Leu) n.2374A>C c.*2318A>C (n.*2318A>C) c.1957A>C (p.Met653Leu) c.2266A>C (p.Met756Leu) c.2194A>C (p.Met732Leu) c.2074A>C (p.Met692Leu) c.1963A>C (p.Met655Leu) c.1924A>C (p.Met642Leu) c.1900A>C (p.Met634Leu) n.2487A>C n.3123A>C n.2413A>C n.2642A>C n.2390A>C n.2316A>C c.2170A>C (p.Met724Leu) c.2149A>C (p.Met717Leu) n.2353A>C n.2279A>C n.2508A>C n.2256A>C n.2182A>C | gnomAD v4 |
12 | g.48145088A>G | CA384555836 | PFKM | c.2272A>G (p.Met758Val) c.2263A>G (p.Met755Val) c.2050A>G (p.Met684Val) c.1792A>G (p.Met598Val) c.2359A>G (p.Met787Val) n.2374A>G c.*2318A>G (n.*2318A>G) c.1957A>G (p.Met653Val) c.2266A>G (p.Met756Val) c.2194A>G (p.Met732Val) c.2074A>G (p.Met692Val) c.1963A>G (p.Met655Val) c.1924A>G (p.Met642Val) c.1900A>G (p.Met634Val) n.2487A>G n.3123A>G n.2413A>G n.2642A>G n.2390A>G n.2316A>G c.2170A>G (p.Met724Val) c.2149A>G (p.Met717Val) n.2353A>G n.2279A>G n.2508A>G n.2256A>G n.2182A>G | gnomAD v4 |
12 | g.48145088A>T | CA384555835 | PFKM | c.2272A>T (p.Met758Leu) c.2263A>T (p.Met755Leu) c.2050A>T (p.Met684Leu) c.1792A>T (p.Met598Leu) c.2359A>T (p.Met787Leu) n.2374A>T c.*2318A>T (n.*2318A>T) c.1957A>T (p.Met653Leu) c.2266A>T (p.Met756Leu) c.2194A>T (p.Met732Leu) c.2074A>T (p.Met692Leu) c.1963A>T (p.Met655Leu) c.1924A>T (p.Met642Leu) c.1900A>T (p.Met634Leu) n.2487A>T n.3123A>T n.2413A>T n.2642A>T n.2390A>T n.2316A>T c.2170A>T (p.Met724Leu) c.2149A>T (p.Met717Leu) n.2353A>T n.2279A>T n.2508A>T n.2256A>T n.2182A>T | |
12 | g.48145089T>A | CA384555838 | PFKM | c.2273T>A (p.Met758Lys) c.2264T>A (p.Met755Lys) c.2051T>A (p.Met684Lys) c.1793T>A (p.Met598Lys) c.2360T>A (p.Met787Lys) n.2375T>A c.*2319T>A (n.*2319T>A) c.1958T>A (p.Met653Lys) c.2267T>A (p.Met756Lys) c.2195T>A (p.Met732Lys) c.2075T>A (p.Met692Lys) c.1964T>A (p.Met655Lys) c.1925T>A (p.Met642Lys) c.1901T>A (p.Met634Lys) n.2488T>A n.3124T>A n.2414T>A n.2643T>A n.2391T>A n.2317T>A c.2171T>A (p.Met724Lys) c.2150T>A (p.Met717Lys) n.2354T>A n.2280T>A n.2509T>A n.2257T>A n.2183T>A | gnomAD v4 |
12 | g.48145089T>C | CA384555839 | PFKM | c.2273T>C (p.Met758Thr) c.2264T>C (p.Met755Thr) c.2051T>C (p.Met684Thr) c.1793T>C (p.Met598Thr) c.2360T>C (p.Met787Thr) n.2375T>C c.*2319T>C (n.*2319T>C) c.1958T>C (p.Met653Thr) c.2267T>C (p.Met756Thr) c.2195T>C (p.Met732Thr) c.2075T>C (p.Met692Thr) c.1964T>C (p.Met655Thr) c.1925T>C (p.Met642Thr) c.1901T>C (p.Met634Thr) n.2488T>C n.3124T>C n.2414T>C n.2643T>C n.2391T>C n.2317T>C c.2171T>C (p.Met724Thr) c.2150T>C (p.Met717Thr) n.2354T>C n.2280T>C n.2509T>C n.2257T>C n.2183T>C | gnomAD v4 |
12 | g.48145089T>G | CA384555840 | PFKM | c.2273T>G (p.Met758Arg) c.2264T>G (p.Met755Arg) c.2051T>G (p.Met684Arg) c.1793T>G (p.Met598Arg) c.2360T>G (p.Met787Arg) n.2375T>G c.*2319T>G (n.*2319T>G) c.1958T>G (p.Met653Arg) c.2267T>G (p.Met756Arg) c.2195T>G (p.Met732Arg) c.2075T>G (p.Met692Arg) c.1964T>G (p.Met655Arg) c.1925T>G (p.Met642Arg) c.1901T>G (p.Met634Arg) n.2488T>G n.3124T>G n.2414T>G n.2643T>G n.2391T>G n.2317T>G c.2171T>G (p.Met724Arg) c.2150T>G (p.Met717Arg) n.2354T>G n.2280T>G n.2509T>G n.2257T>G n.2183T>G | |
12 | g.48145090G>A | CA384555841 | PFKM | c.2274G>A (p.Met758Ile) c.2265G>A (p.Met755Ile) c.2052G>A (p.Met684Ile) c.1794G>A (p.Met598Ile) c.2361G>A (p.Met787Ile) n.2376G>A c.*2320G>A (n.*2320G>A) c.1959G>A (p.Met653Ile) c.2268G>A (p.Met756Ile) c.2196G>A (p.Met732Ile) c.2076G>A (p.Met692Ile) c.1965G>A (p.Met655Ile) c.1926G>A (p.Met642Ile) c.1902G>A (p.Met634Ile) n.2489G>A n.3125G>A n.2415G>A n.2644G>A n.2392G>A n.2318G>A c.2172G>A (p.Met724Ile) c.2151G>A (p.Met717Ile) n.2355G>A n.2281G>A n.2510G>A n.2258G>A n.2184G>A | gnomAD v4 COSMIC COSMIC |
12 | g.48145090G>C | CA384555842 | PFKM | c.2274G>C (p.Met758Ile) c.2265G>C (p.Met755Ile) c.2052G>C (p.Met684Ile) c.1794G>C (p.Met598Ile) c.2361G>C (p.Met787Ile) n.2376G>C c.*2320G>C (n.*2320G>C) c.1959G>C (p.Met653Ile) c.2268G>C (p.Met756Ile) c.2196G>C (p.Met732Ile) c.2076G>C (p.Met692Ile) c.1965G>C (p.Met655Ile) c.1926G>C (p.Met642Ile) c.1902G>C (p.Met634Ile) n.2489G>C n.3125G>C n.2415G>C n.2644G>C n.2392G>C n.2318G>C c.2172G>C (p.Met724Ile) c.2151G>C (p.Met717Ile) n.2355G>C n.2281G>C n.2510G>C n.2258G>C n.2184G>C | dbSNP |
12 | g.48145090G= | CA2034544943 | PFKM | c.2274G= (p.Met758=) c.2265G= (p.Met755=) c.2052G= (p.Met684=) c.1794G= (p.Met598=) c.2361G= (p.Met787=) n.2376G= c.*2320G= (n.*2320G=) c.1959G= (p.Met653=) c.2268G= (p.Met756=) c.2196G= (p.Met732=) c.2076G= (p.Met692=) c.1965G= (p.Met655=) c.1926G= (p.Met642=) c.1902G= (p.Met634=) n.2489G= n.3125G= n.2415G= n.2644G= n.2392G= n.2318G= c.2172G= (p.Met724=) c.2151G= (p.Met717=) n.2355G= n.2281G= n.2510G= n.2258G= n.2184G= | |
12 | g.48145090G>T | CA384555843 | PFKM | c.2274G>T (p.Met758Ile) c.2265G>T (p.Met755Ile) c.2052G>T (p.Met684Ile) c.1794G>T (p.Met598Ile) c.2361G>T (p.Met787Ile) n.2376G>T c.*2320G>T (n.*2320G>T) c.1959G>T (p.Met653Ile) c.2268G>T (p.Met756Ile) c.2196G>T (p.Met732Ile) c.2076G>T (p.Met692Ile) c.1965G>T (p.Met655Ile) c.1926G>T (p.Met642Ile) c.1902G>T (p.Met634Ile) n.2489G>T n.3125G>T n.2415G>T n.2644G>T n.2392G>T n.2318G>T c.2172G>T (p.Met724Ile) c.2151G>T (p.Met717Ile) n.2355G>T n.2281G>T n.2510G>T n.2258G>T n.2184G>T | gnomAD v4 |
12 | g.48145091A= | CA2034544947 | PFKM | c.2275A= (p.Asn759=) c.2266A= (p.Asn756=) c.2053A= (p.Asn685=) c.1795A= (p.Asn599=) c.2362A= (p.Asn788=) n.2377A= c.*2321A= (n.*2321A=) c.1960A= (p.Asn654=) c.2269A= (p.Asn757=) c.2197A= (p.Asn733=) c.2077A= (p.Asn693=) c.1966A= (p.Asn656=) c.1927A= (p.Asn643=) c.1903A= (p.Asn635=) n.2490A= n.3126A= n.2416A= n.2645A= n.2393A= n.2319A= c.2173A= (p.Asn725=) c.2152A= (p.Asn718=) n.2356A= n.2282A= n.2511A= n.2259A= n.2185A= | |
12 | g.48145091A>C | CA384555844 | PFKM | c.2275A>C (p.Asn759His) c.2266A>C (p.Asn756His) c.2053A>C (p.Asn685His) c.1795A>C (p.Asn599His) c.2362A>C (p.Asn788His) n.2377A>C c.*2321A>C (n.*2321A>C) c.1960A>C (p.Asn654His) c.2269A>C (p.Asn757His) c.2197A>C (p.Asn733His) c.2077A>C (p.Asn693His) c.1966A>C (p.Asn656His) c.1927A>C (p.Asn643His) c.1903A>C (p.Asn635His) n.2490A>C n.3126A>C n.2416A>C n.2645A>C n.2393A>C n.2319A>C c.2173A>C (p.Asn725His) c.2152A>C (p.Asn718His) n.2356A>C n.2282A>C n.2511A>C n.2259A>C n.2185A>C | |
12 | g.48145091A>G | CA6537520 | PFKM | c.2275A>G (p.Asn759Asp) c.2266A>G (p.Asn756Asp) c.2053A>G (p.Asn685Asp) c.1795A>G (p.Asn599Asp) c.2362A>G (p.Asn788Asp) n.2377A>G c.*2321A>G (n.*2321A>G) c.1960A>G (p.Asn654Asp) c.2269A>G (p.Asn757Asp) c.2197A>G (p.Asn733Asp) c.2077A>G (p.Asn693Asp) c.1966A>G (p.Asn656Asp) c.1927A>G (p.Asn643Asp) c.1903A>G (p.Asn635Asp) n.2490A>G n.3126A>G n.2416A>G n.2645A>G n.2393A>G n.2319A>G c.2173A>G (p.Asn725Asp) c.2152A>G (p.Asn718Asp) n.2356A>G n.2282A>G n.2511A>G n.2259A>G n.2185A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48145091A>T | CA384555845 | PFKM | c.2275A>T (p.Asn759Tyr) c.2266A>T (p.Asn756Tyr) c.2053A>T (p.Asn685Tyr) c.1795A>T (p.Asn599Tyr) c.2362A>T (p.Asn788Tyr) n.2377A>T c.*2321A>T (n.*2321A>T) c.1960A>T (p.Asn654Tyr) c.2269A>T (p.Asn757Tyr) c.2197A>T (p.Asn733Tyr) c.2077A>T (p.Asn693Tyr) c.1966A>T (p.Asn656Tyr) c.1927A>T (p.Asn643Tyr) c.1903A>T (p.Asn635Tyr) n.2490A>T n.3126A>T n.2416A>T n.2645A>T n.2393A>T n.2319A>T c.2173A>T (p.Asn725Tyr) c.2152A>T (p.Asn718Tyr) n.2356A>T n.2282A>T n.2511A>T n.2259A>T n.2185A>T | |
12 | g.48145092A>C | CA384555846 | PFKM | c.2276A>C (p.Asn759Thr) c.2267A>C (p.Asn756Thr) c.2054A>C (p.Asn685Thr) c.1796A>C (p.Asn599Thr) c.2363A>C (p.Asn788Thr) n.2378A>C c.*2322A>C (n.*2322A>C) c.1961A>C (p.Asn654Thr) c.2270A>C (p.Asn757Thr) c.2198A>C (p.Asn733Thr) c.2078A>C (p.Asn693Thr) c.1967A>C (p.Asn656Thr) c.1928A>C (p.Asn643Thr) c.1904A>C (p.Asn635Thr) n.2491A>C n.3127A>C n.2417A>C n.2646A>C n.2394A>C n.2320A>C c.2174A>C (p.Asn725Thr) c.2153A>C (p.Asn718Thr) n.2357A>C n.2283A>C n.2512A>C n.2260A>C n.2186A>C | |
12 | g.48145092A>G | CA384555847 | PFKM | c.2276A>G (p.Asn759Ser) c.2267A>G (p.Asn756Ser) c.2054A>G (p.Asn685Ser) c.1796A>G (p.Asn599Ser) c.2363A>G (p.Asn788Ser) n.2378A>G c.*2322A>G (n.*2322A>G) c.1961A>G (p.Asn654Ser) c.2270A>G (p.Asn757Ser) c.2198A>G (p.Asn733Ser) c.2078A>G (p.Asn693Ser) c.1967A>G (p.Asn656Ser) c.1928A>G (p.Asn643Ser) c.1904A>G (p.Asn635Ser) n.2491A>G n.3127A>G n.2417A>G n.2646A>G n.2394A>G n.2320A>G c.2174A>G (p.Asn725Ser) c.2153A>G (p.Asn718Ser) n.2357A>G n.2283A>G n.2512A>G n.2260A>G n.2186A>G | |
12 | g.48145092A>T | CA384555848 | PFKM | c.2276A>T (p.Asn759Ile) c.2267A>T (p.Asn756Ile) c.2054A>T (p.Asn685Ile) c.1796A>T (p.Asn599Ile) c.2363A>T (p.Asn788Ile) n.2378A>T c.*2322A>T (n.*2322A>T) c.1961A>T (p.Asn654Ile) c.2270A>T (p.Asn757Ile) c.2198A>T (p.Asn733Ile) c.2078A>T (p.Asn693Ile) c.1967A>T (p.Asn656Ile) c.1928A>T (p.Asn643Ile) c.1904A>T (p.Asn635Ile) n.2491A>T n.3127A>T n.2417A>T n.2646A>T n.2394A>T n.2320A>T c.2174A>T (p.Asn725Ile) c.2153A>T (p.Asn718Ile) n.2357A>T n.2283A>T n.2512A>T n.2260A>T n.2186A>T | |
12 | g.48145093C>A | CA384555849 | PFKM | c.2277C>A (p.Asn759Lys) c.2268C>A (p.Asn756Lys) c.2055C>A (p.Asn685Lys) c.1797C>A (p.Asn599Lys) c.2364C>A (p.Asn788Lys) n.2379C>A c.*2323C>A (n.*2323C>A) c.1962C>A (p.Asn654Lys) c.2271C>A (p.Asn757Lys) c.2199C>A (p.Asn733Lys) c.2079C>A (p.Asn693Lys) c.1968C>A (p.Asn656Lys) c.1929C>A (p.Asn643Lys) c.1905C>A (p.Asn635Lys) n.2492C>A n.3128C>A n.2418C>A n.2647C>A n.2395C>A n.2321C>A c.2175C>A (p.Asn725Lys) c.2154C>A (p.Asn718Lys) n.2358C>A n.2284C>A n.2513C>A n.2261C>A n.2187C>A | |
12 | g.48145093C>G | CA384555850 | PFKM | c.2277C>G (p.Asn759Lys) c.2268C>G (p.Asn756Lys) c.2055C>G (p.Asn685Lys) c.1797C>G (p.Asn599Lys) c.2364C>G (p.Asn788Lys) n.2379C>G c.*2323C>G (n.*2323C>G) c.1962C>G (p.Asn654Lys) c.2271C>G (p.Asn757Lys) c.2199C>G (p.Asn733Lys) c.2079C>G (p.Asn693Lys) c.1968C>G (p.Asn656Lys) c.1929C>G (p.Asn643Lys) c.1905C>G (p.Asn635Lys) n.2492C>G n.3128C>G n.2418C>G n.2647C>G n.2395C>G n.2321C>G c.2175C>G (p.Asn725Lys) c.2154C>G (p.Asn718Lys) n.2358C>G n.2284C>G n.2513C>G n.2261C>G n.2187C>G | |
12 | g.48145093C>T | CA479459774 | PFKM | c.2277C>T (p.Asn759=) c.2268C>T (p.Asn756=) c.2055C>T (p.Asn685=) c.1797C>T (p.Asn599=) c.2364C>T (p.Asn788=) n.2379C>T c.*2323C>T (n.*2323C>T) c.1962C>T (p.Asn654=) c.2271C>T (p.Asn757=) c.2199C>T (p.Asn733=) c.2079C>T (p.Asn693=) c.1968C>T (p.Asn656=) c.1929C>T (p.Asn643=) c.1905C>T (p.Asn635=) n.2492C>T n.3128C>T n.2418C>T n.2647C>T n.2395C>T n.2321C>T c.2175C>T (p.Asn725=) c.2154C>T (p.Asn718=) n.2358C>T n.2284C>T n.2513C>T n.2261C>T n.2187C>T | |
12 | g.48145094T>A | CA384555851 | PFKM | c.2278T>A (p.Trp760Arg) c.2269T>A (p.Trp757Arg) c.2056T>A (p.Trp686Arg) c.1798T>A (p.Trp600Arg) c.2365T>A (p.Trp789Arg) n.2380T>A c.*2324T>A (n.*2324T>A) c.1963T>A (p.Trp655Arg) c.2272T>A (p.Trp758Arg) c.2200T>A (p.Trp734Arg) c.2080T>A (p.Trp694Arg) c.1969T>A (p.Trp657Arg) c.1930T>A (p.Trp644Arg) c.1906T>A (p.Trp636Arg) n.2493T>A n.3129T>A n.2419T>A n.2648T>A n.2396T>A n.2322T>A c.2176T>A (p.Trp726Arg) c.2155T>A (p.Trp719Arg) n.2359T>A n.2285T>A n.2514T>A n.2262T>A n.2188T>A | |
12 | g.48145094T>C | CA6537521 | PFKM | c.2278T>C (p.Trp760Arg) c.2269T>C (p.Trp757Arg) c.2056T>C (p.Trp686Arg) c.1798T>C (p.Trp600Arg) c.2365T>C (p.Trp789Arg) n.2380T>C c.*2324T>C (n.*2324T>C) c.1963T>C (p.Trp655Arg) c.2272T>C (p.Trp758Arg) c.2200T>C (p.Trp734Arg) c.2080T>C (p.Trp694Arg) c.1969T>C (p.Trp657Arg) c.1930T>C (p.Trp644Arg) c.1906T>C (p.Trp636Arg) n.2493T>C n.3129T>C n.2419T>C n.2648T>C n.2396T>C n.2322T>C c.2176T>C (p.Trp726Arg) c.2155T>C (p.Trp719Arg) n.2359T>C n.2285T>C n.2514T>C n.2262T>C n.2188T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145094T>G | CA384555852 | PFKM | c.2278T>G (p.Trp760Gly) c.2269T>G (p.Trp757Gly) c.2056T>G (p.Trp686Gly) c.1798T>G (p.Trp600Gly) c.2365T>G (p.Trp789Gly) n.2380T>G c.*2324T>G (n.*2324T>G) c.1963T>G (p.Trp655Gly) c.2272T>G (p.Trp758Gly) c.2200T>G (p.Trp734Gly) c.2080T>G (p.Trp694Gly) c.1969T>G (p.Trp657Gly) c.1930T>G (p.Trp644Gly) c.1906T>G (p.Trp636Gly) n.2493T>G n.3129T>G n.2419T>G n.2648T>G n.2396T>G n.2322T>G c.2176T>G (p.Trp726Gly) c.2155T>G (p.Trp719Gly) n.2359T>G n.2285T>G n.2514T>G n.2262T>G n.2188T>G | |
12 | g.48145094T= | CA2034544953 | PFKM | c.2278T= (p.Trp760=) c.2269T= (p.Trp757=) c.2056T= (p.Trp686=) c.1798T= (p.Trp600=) c.2365T= (p.Trp789=) n.2380T= c.*2324T= (n.*2324T=) c.1963T= (p.Trp655=) c.2272T= (p.Trp758=) c.2200T= (p.Trp734=) c.2080T= (p.Trp694=) c.1969T= (p.Trp657=) c.1930T= (p.Trp644=) c.1906T= (p.Trp636=) n.2493T= n.3129T= n.2419T= n.2648T= n.2396T= n.2322T= c.2176T= (p.Trp726=) c.2155T= (p.Trp719=) n.2359T= n.2285T= n.2514T= n.2262T= n.2188T= | |
12 | g.48145095G>A | CA384555853 | PFKM | c.2279G>A (p.Trp760Ter) c.2270G>A (p.Trp757Ter) c.2057G>A (p.Trp686Ter) c.1799G>A (p.Trp600Ter) c.2366G>A (p.Trp789Ter) n.2381G>A c.*2325G>A (n.*2325G>A) c.1964G>A (p.Trp655Ter) c.2273G>A (p.Trp758Ter) c.2201G>A (p.Trp734Ter) c.2081G>A (p.Trp694Ter) c.1970G>A (p.Trp657Ter) c.1931G>A (p.Trp644Ter) c.1907G>A (p.Trp636Ter) n.2494G>A n.3130G>A n.2420G>A n.2649G>A n.2397G>A n.2323G>A c.2177G>A (p.Trp726Ter) c.2156G>A (p.Trp719Ter) n.2360G>A n.2286G>A n.2515G>A n.2263G>A n.2189G>A | COSMIC COSMIC |
12 | g.48145095G>C | CA384555854 | PFKM | c.2279G>C (p.Trp760Ser) c.2270G>C (p.Trp757Ser) c.2057G>C (p.Trp686Ser) c.1799G>C (p.Trp600Ser) c.2366G>C (p.Trp789Ser) n.2381G>C c.*2325G>C (n.*2325G>C) c.1964G>C (p.Trp655Ser) c.2273G>C (p.Trp758Ser) c.2201G>C (p.Trp734Ser) c.2081G>C (p.Trp694Ser) c.1970G>C (p.Trp657Ser) c.1931G>C (p.Trp644Ser) c.1907G>C (p.Trp636Ser) n.2494G>C n.3130G>C n.2420G>C n.2649G>C n.2397G>C n.2323G>C c.2177G>C (p.Trp726Ser) c.2156G>C (p.Trp719Ser) n.2360G>C n.2286G>C n.2515G>C n.2263G>C n.2189G>C | |
12 | g.48145095G>T | CA384555855 | PFKM | c.2279G>T (p.Trp760Leu) c.2270G>T (p.Trp757Leu) c.2057G>T (p.Trp686Leu) c.1799G>T (p.Trp600Leu) c.2366G>T (p.Trp789Leu) n.2381G>T c.*2325G>T (n.*2325G>T) c.1964G>T (p.Trp655Leu) c.2273G>T (p.Trp758Leu) c.2201G>T (p.Trp734Leu) c.2081G>T (p.Trp694Leu) c.1970G>T (p.Trp657Leu) c.1931G>T (p.Trp644Leu) c.1907G>T (p.Trp636Leu) n.2494G>T n.3130G>T n.2420G>T n.2649G>T n.2397G>T n.2323G>T c.2177G>T (p.Trp726Leu) c.2156G>T (p.Trp719Leu) n.2360G>T n.2286G>T n.2515G>T n.2263G>T n.2189G>T | COSMIC COSMIC |
12 | g.48145096G>A | CA384555856 | PFKM | c.2280G>A (p.Trp760Ter) c.2271G>A (p.Trp757Ter) c.2058G>A (p.Trp686Ter) c.1800G>A (p.Trp600Ter) c.2367G>A (p.Trp789Ter) n.2382G>A c.*2326G>A (n.*2326G>A) c.1965G>A (p.Trp655Ter) c.2274G>A (p.Trp758Ter) c.2202G>A (p.Trp734Ter) c.2082G>A (p.Trp694Ter) c.1971G>A (p.Trp657Ter) c.1932G>A (p.Trp644Ter) c.1908G>A (p.Trp636Ter) n.2495G>A n.3131G>A n.2421G>A n.2650G>A n.2398G>A n.2324G>A c.2178G>A (p.Trp726Ter) c.2157G>A (p.Trp719Ter) n.2361G>A n.2287G>A n.2516G>A n.2264G>A n.2190G>A | COSMIC COSMIC |
12 | g.48145096G>C | CA384555857 | PFKM | c.2280G>C (p.Trp760Cys) c.2271G>C (p.Trp757Cys) c.2058G>C (p.Trp686Cys) c.1800G>C (p.Trp600Cys) c.2367G>C (p.Trp789Cys) n.2382G>C c.*2326G>C (n.*2326G>C) c.1965G>C (p.Trp655Cys) c.2274G>C (p.Trp758Cys) c.2202G>C (p.Trp734Cys) c.2082G>C (p.Trp694Cys) c.1971G>C (p.Trp657Cys) c.1932G>C (p.Trp644Cys) c.1908G>C (p.Trp636Cys) n.2495G>C n.3131G>C n.2421G>C n.2650G>C n.2398G>C n.2324G>C c.2178G>C (p.Trp726Cys) c.2157G>C (p.Trp719Cys) n.2361G>C n.2287G>C n.2516G>C n.2264G>C n.2190G>C | |
12 | g.48145096G= | CA2034544962 | PFKM | c.2280G= (p.Trp760=) c.2271G= (p.Trp757=) c.2058G= (p.Trp686=) c.1800G= (p.Trp600=) c.2367G= (p.Trp789=) n.2382G= c.*2326G= (n.*2326G=) c.1965G= (p.Trp655=) c.2274G= (p.Trp758=) c.2202G= (p.Trp734=) c.2082G= (p.Trp694=) c.1971G= (p.Trp657=) c.1932G= (p.Trp644=) c.1908G= (p.Trp636=) n.2495G= n.3131G= n.2421G= n.2650G= n.2398G= n.2324G= c.2178G= (p.Trp726=) c.2157G= (p.Trp719=) n.2361G= n.2287G= n.2516G= n.2264G= n.2190G= | |
12 | g.48145096G>T | CA114809 | PFKM | c.2280G>T (p.Trp760Cys) c.2271G>T (p.Trp757Cys) c.2058G>T (p.Trp686Cys) c.1800G>T (p.Trp600Cys) c.2367G>T (p.Trp789Cys) n.2382G>T c.*2326G>T (n.*2326G>T) c.1965G>T (p.Trp655Cys) c.2274G>T (p.Trp758Cys) c.2202G>T (p.Trp734Cys) c.2082G>T (p.Trp694Cys) c.1971G>T (p.Trp657Cys) c.1932G>T (p.Trp644Cys) c.1908G>T (p.Trp636Cys) n.2495G>T n.3131G>T n.2421G>T n.2650G>T n.2398G>T n.2324G>T c.2178G>T (p.Trp726Cys) c.2157G>T (p.Trp719Cys) n.2361G>T n.2287G>T n.2516G>T n.2264G>T n.2190G>T | ClinVar dbSNP |
12 | g.48145097A>C | CA384555858 | PFKM | c.2281A>C (p.Met761Leu) c.2272A>C (p.Met758Leu) c.2059A>C (p.Met687Leu) c.1801A>C (p.Met601Leu) c.2368A>C (p.Met790Leu) n.2383A>C c.*2327A>C (n.*2327A>C) c.1966A>C (p.Met656Leu) c.2275A>C (p.Met759Leu) c.2203A>C (p.Met735Leu) c.2083A>C (p.Met695Leu) c.1972A>C (p.Met658Leu) c.1933A>C (p.Met645Leu) c.1909A>C (p.Met637Leu) n.2496A>C n.3132A>C n.2422A>C n.2651A>C n.2399A>C n.2325A>C c.2179A>C (p.Met727Leu) c.2158A>C (p.Met720Leu) n.2362A>C n.2288A>C n.2517A>C n.2265A>C n.2191A>C | |
12 | g.48145097A>G | CA384555859 | PFKM | c.2281A>G (p.Met761Val) c.2272A>G (p.Met758Val) c.2059A>G (p.Met687Val) c.1801A>G (p.Met601Val) c.2368A>G (p.Met790Val) n.2383A>G c.*2327A>G (n.*2327A>G) c.1966A>G (p.Met656Val) c.2275A>G (p.Met759Val) c.2203A>G (p.Met735Val) c.2083A>G (p.Met695Val) c.1972A>G (p.Met658Val) c.1933A>G (p.Met645Val) c.1909A>G (p.Met637Val) n.2496A>G n.3132A>G n.2422A>G n.2651A>G n.2399A>G n.2325A>G c.2179A>G (p.Met727Val) c.2158A>G (p.Met720Val) n.2362A>G n.2288A>G n.2517A>G n.2265A>G n.2191A>G | gnomAD v4 |
12 | g.48145097A>T | CA384555860 | PFKM | c.2281A>T (p.Met761Leu) c.2272A>T (p.Met758Leu) c.2059A>T (p.Met687Leu) c.1801A>T (p.Met601Leu) c.2368A>T (p.Met790Leu) n.2383A>T c.*2327A>T (n.*2327A>T) c.1966A>T (p.Met656Leu) c.2275A>T (p.Met759Leu) c.2203A>T (p.Met735Leu) c.2083A>T (p.Met695Leu) c.1972A>T (p.Met658Leu) c.1933A>T (p.Met645Leu) c.1909A>T (p.Met637Leu) n.2496A>T n.3132A>T n.2422A>T n.2651A>T n.2399A>T n.2325A>T c.2179A>T (p.Met727Leu) c.2158A>T (p.Met720Leu) n.2362A>T n.2288A>T n.2517A>T n.2265A>T n.2191A>T | |
12 | g.48145098T>A | CA384555861 | PFKM | c.2282T>A (p.Met761Lys) c.2273T>A (p.Met758Lys) c.2060T>A (p.Met687Lys) c.1802T>A (p.Met601Lys) c.2369T>A (p.Met790Lys) n.2384T>A c.*2328T>A (n.*2328T>A) c.1967T>A (p.Met656Lys) c.2276T>A (p.Met759Lys) c.2204T>A (p.Met735Lys) c.2084T>A (p.Met695Lys) c.1973T>A (p.Met658Lys) c.1934T>A (p.Met645Lys) c.1910T>A (p.Met637Lys) n.2497T>A n.3133T>A n.2423T>A n.2652T>A n.2400T>A n.2326T>A c.2180T>A (p.Met727Lys) c.2159T>A (p.Met720Lys) n.2363T>A n.2289T>A n.2518T>A n.2266T>A n.2192T>A | |
12 | g.48145098T>C | CA384555862 | PFKM | c.2282T>C (p.Met761Thr) c.2273T>C (p.Met758Thr) c.2060T>C (p.Met687Thr) c.1802T>C (p.Met601Thr) c.2369T>C (p.Met790Thr) n.2384T>C c.*2328T>C (n.*2328T>C) c.1967T>C (p.Met656Thr) c.2276T>C (p.Met759Thr) c.2204T>C (p.Met735Thr) c.2084T>C (p.Met695Thr) c.1973T>C (p.Met658Thr) c.1934T>C (p.Met645Thr) c.1910T>C (p.Met637Thr) n.2497T>C n.3133T>C n.2423T>C n.2652T>C n.2400T>C n.2326T>C c.2180T>C (p.Met727Thr) c.2159T>C (p.Met720Thr) n.2363T>C n.2289T>C n.2518T>C n.2266T>C n.2192T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145098T>G | CA384555863 | PFKM | c.2282T>G (p.Met761Arg) c.2273T>G (p.Met758Arg) c.2060T>G (p.Met687Arg) c.1802T>G (p.Met601Arg) c.2369T>G (p.Met790Arg) n.2384T>G c.*2328T>G (n.*2328T>G) c.1967T>G (p.Met656Arg) c.2276T>G (p.Met759Arg) c.2204T>G (p.Met735Arg) c.2084T>G (p.Met695Arg) c.1973T>G (p.Met658Arg) c.1934T>G (p.Met645Arg) c.1910T>G (p.Met637Arg) n.2497T>G n.3133T>G n.2423T>G n.2652T>G n.2400T>G n.2326T>G c.2180T>G (p.Met727Arg) c.2159T>G (p.Met720Arg) n.2363T>G n.2289T>G n.2518T>G n.2266T>G n.2192T>G | |
12 | g.48145098T= | CA2034544969 | PFKM | c.2282T= (p.Met761=) c.2273T= (p.Met758=) c.2060T= (p.Met687=) c.1802T= (p.Met601=) c.2369T= (p.Met790=) n.2384T= c.*2328T= (n.*2328T=) c.1967T= (p.Met656=) c.2276T= (p.Met759=) c.2204T= (p.Met735=) c.2084T= (p.Met695=) c.1973T= (p.Met658=) c.1934T= (p.Met645=) c.1910T= (p.Met637=) n.2497T= n.3133T= n.2423T= n.2652T= n.2400T= n.2326T= c.2180T= (p.Met727=) c.2159T= (p.Met720=) n.2363T= n.2289T= n.2518T= n.2266T= n.2192T= | |
12 | g.48145099G>A | CA384555864 | PFKM | c.2283G>A (p.Met761Ile) c.2274G>A (p.Met758Ile) c.2061G>A (p.Met687Ile) c.1803G>A (p.Met601Ile) c.2370G>A (p.Met790Ile) n.2385G>A c.*2329G>A (n.*2329G>A) c.1968G>A (p.Met656Ile) c.2277G>A (p.Met759Ile) c.2205G>A (p.Met735Ile) c.2085G>A (p.Met695Ile) c.1974G>A (p.Met658Ile) c.1935G>A (p.Met645Ile) c.1911G>A (p.Met637Ile) n.2498G>A n.3134G>A n.2424G>A n.2653G>A n.2401G>A n.2327G>A c.2181G>A (p.Met727Ile) c.2160G>A (p.Met720Ile) n.2364G>A n.2290G>A n.2519G>A n.2267G>A n.2193G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145099G>C | CA384555865 | PFKM | c.2283G>C (p.Met761Ile) c.2274G>C (p.Met758Ile) c.2061G>C (p.Met687Ile) c.1803G>C (p.Met601Ile) c.2370G>C (p.Met790Ile) n.2385G>C c.*2329G>C (n.*2329G>C) c.1968G>C (p.Met656Ile) c.2277G>C (p.Met759Ile) c.2205G>C (p.Met735Ile) c.2085G>C (p.Met695Ile) c.1974G>C (p.Met658Ile) c.1935G>C (p.Met645Ile) c.1911G>C (p.Met637Ile) n.2498G>C n.3134G>C n.2424G>C n.2653G>C n.2401G>C n.2327G>C c.2181G>C (p.Met727Ile) c.2160G>C (p.Met720Ile) n.2364G>C n.2290G>C n.2519G>C n.2267G>C n.2193G>C | |
12 | g.48145099G= | CA2034544975 | PFKM | c.2283G= (p.Met761=) c.2274G= (p.Met758=) c.2061G= (p.Met687=) c.1803G= (p.Met601=) c.2370G= (p.Met790=) n.2385G= c.*2329G= (n.*2329G=) c.1968G= (p.Met656=) c.2277G= (p.Met759=) c.2205G= (p.Met735=) c.2085G= (p.Met695=) c.1974G= (p.Met658=) c.1935G= (p.Met645=) c.1911G= (p.Met637=) n.2498G= n.3134G= n.2424G= n.2653G= n.2401G= n.2327G= c.2181G= (p.Met727=) c.2160G= (p.Met720=) n.2364G= n.2290G= n.2519G= n.2267G= n.2193G= | |
12 | g.48145099G>T | CA384555866 | PFKM | c.2283G>T (p.Met761Ile) c.2274G>T (p.Met758Ile) c.2061G>T (p.Met687Ile) c.1803G>T (p.Met601Ile) c.2370G>T (p.Met790Ile) n.2385G>T c.*2329G>T (n.*2329G>T) c.1968G>T (p.Met656Ile) c.2277G>T (p.Met759Ile) c.2205G>T (p.Met735Ile) c.2085G>T (p.Met695Ile) c.1974G>T (p.Met658Ile) c.1935G>T (p.Met645Ile) c.1911G>T (p.Met637Ile) n.2498G>T n.3134G>T n.2424G>T n.2653G>T n.2401G>T n.2327G>T c.2181G>T (p.Met727Ile) c.2160G>T (p.Met720Ile) n.2364G>T n.2290G>T n.2519G>T n.2267G>T n.2193G>T | |
12 | g.48145100T>A | CA384555867 | PFKM | c.2284T>A (p.Ser762Thr) c.2275T>A (p.Ser759Thr) c.2062T>A (p.Ser688Thr) c.1804T>A (p.Ser602Thr) c.2371T>A (p.Ser791Thr) n.2386T>A c.*2330T>A (n.*2330T>A) c.1969T>A (p.Ser657Thr) c.2278T>A (p.Ser760Thr) c.2206T>A (p.Ser736Thr) c.2086T>A (p.Ser696Thr) c.1975T>A (p.Ser659Thr) c.1936T>A (p.Ser646Thr) c.1912T>A (p.Ser638Thr) n.2499T>A n.3135T>A n.2425T>A n.2654T>A n.2402T>A n.2328T>A c.2182T>A (p.Ser728Thr) c.2161T>A (p.Ser721Thr) n.2365T>A n.2291T>A n.2520T>A n.2268T>A n.2194T>A | |
12 | g.48145100T>C | CA384555868 | PFKM | c.2284T>C (p.Ser762Pro) c.2275T>C (p.Ser759Pro) c.2062T>C (p.Ser688Pro) c.1804T>C (p.Ser602Pro) c.2371T>C (p.Ser791Pro) n.2386T>C c.*2330T>C (n.*2330T>C) c.1969T>C (p.Ser657Pro) c.2278T>C (p.Ser760Pro) c.2206T>C (p.Ser736Pro) c.2086T>C (p.Ser696Pro) c.1975T>C (p.Ser659Pro) c.1936T>C (p.Ser646Pro) c.1912T>C (p.Ser638Pro) n.2499T>C n.3135T>C n.2425T>C n.2654T>C n.2402T>C n.2328T>C c.2182T>C (p.Ser728Pro) c.2161T>C (p.Ser721Pro) n.2365T>C n.2291T>C n.2520T>C n.2268T>C n.2194T>C | gnomAD v4 |
12 | g.48145100T>G | CA384555869 | PFKM | c.2284T>G (p.Ser762Ala) c.2275T>G (p.Ser759Ala) c.2062T>G (p.Ser688Ala) c.1804T>G (p.Ser602Ala) c.2371T>G (p.Ser791Ala) n.2386T>G c.*2330T>G (n.*2330T>G) c.1969T>G (p.Ser657Ala) c.2278T>G (p.Ser760Ala) c.2206T>G (p.Ser736Ala) c.2086T>G (p.Ser696Ala) c.1975T>G (p.Ser659Ala) c.1936T>G (p.Ser646Ala) c.1912T>G (p.Ser638Ala) n.2499T>G n.3135T>G n.2425T>G n.2654T>G n.2402T>G n.2328T>G c.2182T>G (p.Ser728Ala) c.2161T>G (p.Ser721Ala) n.2365T>G n.2291T>G n.2520T>G n.2268T>G n.2194T>G | |
12 | g.48145101C>A | CA384555872 | PFKM | c.2285C>A (p.Ser762Tyr) c.2276C>A (p.Ser759Tyr) c.2063C>A (p.Ser688Tyr) c.1805C>A (p.Ser602Tyr) c.2372C>A (p.Ser791Tyr) n.2387C>A c.*2331C>A (n.*2331C>A) c.1970C>A (p.Ser657Tyr) c.2279C>A (p.Ser760Tyr) c.2207C>A (p.Ser736Tyr) c.2087C>A (p.Ser696Tyr) c.1976C>A (p.Ser659Tyr) c.1937C>A (p.Ser646Tyr) c.1913C>A (p.Ser638Tyr) n.2500C>A n.3136C>A n.2426C>A n.2655C>A n.2403C>A n.2329C>A c.2183C>A (p.Ser728Tyr) c.2162C>A (p.Ser721Tyr) n.2366C>A n.2292C>A n.2521C>A n.2269C>A n.2195C>A | |
12 | g.48145101C>G | CA384555870 | PFKM | c.2285C>G (p.Ser762Cys) c.2276C>G (p.Ser759Cys) c.2063C>G (p.Ser688Cys) c.1805C>G (p.Ser602Cys) c.2372C>G (p.Ser791Cys) n.2387C>G c.*2331C>G (n.*2331C>G) c.1970C>G (p.Ser657Cys) c.2279C>G (p.Ser760Cys) c.2207C>G (p.Ser736Cys) c.2087C>G (p.Ser696Cys) c.1976C>G (p.Ser659Cys) c.1937C>G (p.Ser646Cys) c.1913C>G (p.Ser638Cys) n.2500C>G n.3136C>G n.2426C>G n.2655C>G n.2403C>G n.2329C>G c.2183C>G (p.Ser728Cys) c.2162C>G (p.Ser721Cys) n.2366C>G n.2292C>G n.2521C>G n.2269C>G n.2195C>G | |
12 | g.48145101C>T | CA384555871 | PFKM | c.2285C>T (p.Ser762Phe) c.2276C>T (p.Ser759Phe) c.2063C>T (p.Ser688Phe) c.1805C>T (p.Ser602Phe) c.2372C>T (p.Ser791Phe) n.2387C>T c.*2331C>T (n.*2331C>T) c.1970C>T (p.Ser657Phe) c.2279C>T (p.Ser760Phe) c.2207C>T (p.Ser736Phe) c.2087C>T (p.Ser696Phe) c.1976C>T (p.Ser659Phe) c.1937C>T (p.Ser646Phe) c.1913C>T (p.Ser638Phe) n.2500C>T n.3136C>T n.2426C>T n.2655C>T n.2403C>T n.2329C>T c.2183C>T (p.Ser728Phe) c.2162C>T (p.Ser721Phe) n.2366C>T n.2292C>T n.2521C>T n.2269C>T n.2195C>T | |
12 | g.48145102T>A | CA479459796 | PFKM | c.2286T>A (p.Ser762=) c.2277T>A (p.Ser759=) c.2064T>A (p.Ser688=) c.1806T>A (p.Ser602=) c.2373T>A (p.Ser791=) n.2388T>A c.*2332T>A (n.*2332T>A) c.1971T>A (p.Ser657=) c.2280T>A (p.Ser760=) c.2208T>A (p.Ser736=) c.2088T>A (p.Ser696=) c.1977T>A (p.Ser659=) c.1938T>A (p.Ser646=) c.1914T>A (p.Ser638=) n.2501T>A n.3137T>A n.2427T>A n.2656T>A n.2404T>A n.2330T>A c.2184T>A (p.Ser728=) c.2163T>A (p.Ser721=) n.2367T>A n.2293T>A n.2522T>A n.2270T>A n.2196T>A | |
12 | g.48145102T>C | CA479459798 | PFKM | c.2286T>C (p.Ser762=) c.2277T>C (p.Ser759=) c.2064T>C (p.Ser688=) c.1806T>C (p.Ser602=) c.2373T>C (p.Ser791=) n.2388T>C c.*2332T>C (n.*2332T>C) c.1971T>C (p.Ser657=) c.2280T>C (p.Ser760=) c.2208T>C (p.Ser736=) c.2088T>C (p.Ser696=) c.1977T>C (p.Ser659=) c.1938T>C (p.Ser646=) c.1914T>C (p.Ser638=) n.2501T>C n.3137T>C n.2427T>C n.2656T>C n.2404T>C n.2330T>C c.2184T>C (p.Ser728=) c.2163T>C (p.Ser721=) n.2367T>C n.2293T>C n.2522T>C n.2270T>C n.2196T>C | |
12 | g.48145102T>G | CA479459800 | PFKM | c.2286T>G (p.Ser762=) c.2277T>G (p.Ser759=) c.2064T>G (p.Ser688=) c.1806T>G (p.Ser602=) c.2373T>G (p.Ser791=) n.2388T>G c.*2332T>G (n.*2332T>G) c.1971T>G (p.Ser657=) c.2280T>G (p.Ser760=) c.2208T>G (p.Ser736=) c.2088T>G (p.Ser696=) c.1977T>G (p.Ser659=) c.1938T>G (p.Ser646=) c.1914T>G (p.Ser638=) n.2501T>G n.3137T>G n.2427T>G n.2656T>G n.2404T>G n.2330T>G c.2184T>G (p.Ser728=) c.2163T>G (p.Ser721=) n.2367T>G n.2293T>G n.2522T>G n.2270T>G n.2196T>G | ClinVar gnomAD v4 |
12 | g.48145103G>A | CA384555873 | PFKM | c.2287G>A (p.Gly763Arg) c.2278G>A (p.Gly760Arg) c.2065G>A (p.Gly689Arg) c.1807G>A (p.Gly603Arg) c.2374G>A (p.Gly792Arg) n.2389G>A c.*2333G>A (n.*2333G>A) c.1972G>A (p.Gly658Arg) c.2281G>A (p.Gly761Arg) c.2209G>A (p.Gly737Arg) c.2089G>A (p.Gly697Arg) c.1978G>A (p.Gly660Arg) c.1939G>A (p.Gly647Arg) c.1915G>A (p.Gly639Arg) n.2502G>A n.3138G>A n.2428G>A n.2657G>A n.2405G>A n.2331G>A c.2185G>A (p.Gly729Arg) c.2164G>A (p.Gly722Arg) n.2368G>A n.2294G>A n.2523G>A n.2271G>A n.2197G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.48145103G>C | CA384555874 | PFKM | c.2287G>C (p.Gly763Arg) c.2278G>C (p.Gly760Arg) c.2065G>C (p.Gly689Arg) c.1807G>C (p.Gly603Arg) c.2374G>C (p.Gly792Arg) n.2389G>C c.*2333G>C (n.*2333G>C) c.1972G>C (p.Gly658Arg) c.2281G>C (p.Gly761Arg) c.2209G>C (p.Gly737Arg) c.2089G>C (p.Gly697Arg) c.1978G>C (p.Gly660Arg) c.1939G>C (p.Gly647Arg) c.1915G>C (p.Gly639Arg) n.2502G>C n.3138G>C n.2428G>C n.2657G>C n.2405G>C n.2331G>C c.2185G>C (p.Gly729Arg) c.2164G>C (p.Gly722Arg) n.2368G>C n.2294G>C n.2523G>C n.2271G>C n.2197G>C | |
12 | g.48145103G= | CA2034544978 | PFKM | c.2287G= (p.Gly763=) c.2278G= (p.Gly760=) c.2065G= (p.Gly689=) c.1807G= (p.Gly603=) c.2374G= (p.Gly792=) n.2389G= c.*2333G= (n.*2333G=) c.1972G= (p.Gly658=) c.2281G= (p.Gly761=) c.2209G= (p.Gly737=) c.2089G= (p.Gly697=) c.1978G= (p.Gly660=) c.1939G= (p.Gly647=) c.1915G= (p.Gly639=) n.2502G= n.3138G= n.2428G= n.2657G= n.2405G= n.2331G= c.2185G= (p.Gly729=) c.2164G= (p.Gly722=) n.2368G= n.2294G= n.2523G= n.2271G= n.2197G= | |
12 | g.48145103G>T | CA384555875 | PFKM | c.2287G>T (p.Gly763Trp) c.2278G>T (p.Gly760Trp) c.2065G>T (p.Gly689Trp) c.1807G>T (p.Gly603Trp) c.2374G>T (p.Gly792Trp) n.2389G>T c.*2333G>T (n.*2333G>T) c.1972G>T (p.Gly658Trp) c.2281G>T (p.Gly761Trp) c.2209G>T (p.Gly737Trp) c.2089G>T (p.Gly697Trp) c.1978G>T (p.Gly660Trp) c.1939G>T (p.Gly647Trp) c.1915G>T (p.Gly639Trp) n.2502G>T n.3138G>T n.2428G>T n.2657G>T n.2405G>T n.2331G>T c.2185G>T (p.Gly729Trp) c.2164G>T (p.Gly722Trp) n.2368G>T n.2294G>T n.2523G>T n.2271G>T n.2197G>T | gnomAD v4 |
12 | g.48145104G>A | CA384555876 | PFKM | c.2288G>A (p.Gly763Glu) c.2279G>A (p.Gly760Glu) c.2066G>A (p.Gly689Glu) c.1808G>A (p.Gly603Glu) c.2375G>A (p.Gly792Glu) n.2390G>A c.*2334G>A (n.*2334G>A) c.1973G>A (p.Gly658Glu) c.2282G>A (p.Gly761Glu) c.2210G>A (p.Gly737Glu) c.2090G>A (p.Gly697Glu) c.1979G>A (p.Gly660Glu) c.1940G>A (p.Gly647Glu) c.1916G>A (p.Gly639Glu) n.2503G>A n.3139G>A n.2429G>A n.2658G>A n.2406G>A n.2332G>A c.2186G>A (p.Gly729Glu) c.2165G>A (p.Gly722Glu) n.2369G>A n.2295G>A n.2524G>A n.2272G>A n.2198G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.48145104G>C | CA384555877 | PFKM | c.2288G>C (p.Gly763Ala) c.2279G>C (p.Gly760Ala) c.2066G>C (p.Gly689Ala) c.1808G>C (p.Gly603Ala) c.2375G>C (p.Gly792Ala) n.2390G>C c.*2334G>C (n.*2334G>C) c.1973G>C (p.Gly658Ala) c.2282G>C (p.Gly761Ala) c.2210G>C (p.Gly737Ala) c.2090G>C (p.Gly697Ala) c.1979G>C (p.Gly660Ala) c.1940G>C (p.Gly647Ala) c.1916G>C (p.Gly639Ala) n.2503G>C n.3139G>C n.2429G>C n.2658G>C n.2406G>C n.2332G>C c.2186G>C (p.Gly729Ala) c.2165G>C (p.Gly722Ala) n.2369G>C n.2295G>C n.2524G>C n.2272G>C n.2198G>C | |
12 | g.48145104G= | CA2034544984 | PFKM | c.2288G= (p.Gly763=) c.2279G= (p.Gly760=) c.2066G= (p.Gly689=) c.1808G= (p.Gly603=) c.2375G= (p.Gly792=) n.2390G= c.*2334G= (n.*2334G=) c.1973G= (p.Gly658=) c.2282G= (p.Gly761=) c.2210G= (p.Gly737=) c.2090G= (p.Gly697=) c.1979G= (p.Gly660=) c.1940G= (p.Gly647=) c.1916G= (p.Gly639=) n.2503G= n.3139G= n.2429G= n.2658G= n.2406G= n.2332G= c.2186G= (p.Gly729=) c.2165G= (p.Gly722=) n.2369G= n.2295G= n.2524G= n.2272G= n.2198G= | |
12 | g.48145104G>T | CA384555878 | PFKM | c.2288G>T (p.Gly763Val) c.2279G>T (p.Gly760Val) c.2066G>T (p.Gly689Val) c.1808G>T (p.Gly603Val) c.2375G>T (p.Gly792Val) n.2390G>T c.*2334G>T (n.*2334G>T) c.1973G>T (p.Gly658Val) c.2282G>T (p.Gly761Val) c.2210G>T (p.Gly737Val) c.2090G>T (p.Gly697Val) c.1979G>T (p.Gly660Val) c.1940G>T (p.Gly647Val) c.1916G>T (p.Gly639Val) n.2503G>T n.3139G>T n.2429G>T n.2658G>T n.2406G>T n.2332G>T c.2186G>T (p.Gly729Val) c.2165G>T (p.Gly722Val) n.2369G>T n.2295G>T n.2524G>T n.2272G>T n.2198G>T | |
12 | g.48145105G>A | CA479459811 | PFKM | c.2289G>A (p.Gly763=) c.2280G>A (p.Gly760=) c.2067G>A (p.Gly689=) c.1809G>A (p.Gly603=) c.2376G>A (p.Gly792=) n.2391G>A c.*2335G>A (n.*2335G>A) c.1974G>A (p.Gly658=) c.2283G>A (p.Gly761=) c.2211G>A (p.Gly737=) c.2091G>A (p.Gly697=) c.1980G>A (p.Gly660=) c.1941G>A (p.Gly647=) c.1917G>A (p.Gly639=) n.2504G>A n.3140G>A n.2430G>A n.2659G>A n.2407G>A n.2333G>A c.2187G>A (p.Gly729=) c.2166G>A (p.Gly722=) n.2370G>A n.2296G>A n.2525G>A n.2273G>A n.2199G>A | |
12 | g.48145105G>C | CA479459812 | PFKM | c.2289G>C (p.Gly763=) c.2280G>C (p.Gly760=) c.2067G>C (p.Gly689=) c.1809G>C (p.Gly603=) c.2376G>C (p.Gly792=) n.2391G>C c.*2335G>C (n.*2335G>C) c.1974G>C (p.Gly658=) c.2283G>C (p.Gly761=) c.2211G>C (p.Gly737=) c.2091G>C (p.Gly697=) c.1980G>C (p.Gly660=) c.1941G>C (p.Gly647=) c.1917G>C (p.Gly639=) n.2504G>C n.3140G>C n.2430G>C n.2659G>C n.2407G>C n.2333G>C c.2187G>C (p.Gly729=) c.2166G>C (p.Gly722=) n.2370G>C n.2296G>C n.2525G>C n.2273G>C n.2199G>C | |
12 | g.48145105G>T | CA479459813 | PFKM | c.2289G>T (p.Gly763=) c.2280G>T (p.Gly760=) c.2067G>T (p.Gly689=) c.1809G>T (p.Gly603=) c.2376G>T (p.Gly792=) n.2391G>T c.*2335G>T (n.*2335G>T) c.1974G>T (p.Gly658=) c.2283G>T (p.Gly761=) c.2211G>T (p.Gly737=) c.2091G>T (p.Gly697=) c.1980G>T (p.Gly660=) c.1941G>T (p.Gly647=) c.1917G>T (p.Gly639=) n.2504G>T n.3140G>T n.2430G>T n.2659G>T n.2407G>T n.2333G>T c.2187G>T (p.Gly729=) c.2166G>T (p.Gly722=) n.2370G>T n.2296G>T n.2525G>T n.2273G>T n.2199G>T | |
12 | g.48145106A>C | CA384555879 | PFKM | c.2290A>C (p.Lys764Gln) c.2281A>C (p.Lys761Gln) c.2068A>C (p.Lys690Gln) c.1810A>C (p.Lys604Gln) c.2377A>C (p.Lys793Gln) n.2392A>C c.*2336A>C (n.*2336A>C) c.1975A>C (p.Lys659Gln) c.2284A>C (p.Lys762Gln) c.2212A>C (p.Lys738Gln) c.2092A>C (p.Lys698Gln) c.1981A>C (p.Lys661Gln) c.1942A>C (p.Lys648Gln) c.1918A>C (p.Lys640Gln) n.2505A>C n.3141A>C n.2431A>C n.2660A>C n.2408A>C n.2334A>C c.2188A>C (p.Lys730Gln) c.2167A>C (p.Lys723Gln) n.2371A>C n.2297A>C n.2526A>C n.2274A>C n.2200A>C | |
12 | g.48145106A>G | CA384555880 | PFKM | c.2290A>G (p.Lys764Glu) c.2281A>G (p.Lys761Glu) c.2068A>G (p.Lys690Glu) c.1810A>G (p.Lys604Glu) c.2377A>G (p.Lys793Glu) n.2392A>G c.*2336A>G (n.*2336A>G) c.1975A>G (p.Lys659Glu) c.2284A>G (p.Lys762Glu) c.2212A>G (p.Lys738Glu) c.2092A>G (p.Lys698Glu) c.1981A>G (p.Lys661Glu) c.1942A>G (p.Lys648Glu) c.1918A>G (p.Lys640Glu) n.2505A>G n.3141A>G n.2431A>G n.2660A>G n.2408A>G n.2334A>G c.2188A>G (p.Lys730Glu) c.2167A>G (p.Lys723Glu) n.2371A>G n.2297A>G n.2526A>G n.2274A>G n.2200A>G | |
12 | g.48145106A>T | CA384555881 | PFKM | c.2290A>T (p.Lys764Ter) c.2281A>T (p.Lys761Ter) c.2068A>T (p.Lys690Ter) c.1810A>T (p.Lys604Ter) c.2377A>T (p.Lys793Ter) n.2392A>T c.*2336A>T (n.*2336A>T) c.1975A>T (p.Lys659Ter) c.2284A>T (p.Lys762Ter) c.2212A>T (p.Lys738Ter) c.2092A>T (p.Lys698Ter) c.1981A>T (p.Lys661Ter) c.1942A>T (p.Lys648Ter) c.1918A>T (p.Lys640Ter) n.2505A>T n.3141A>T n.2431A>T n.2660A>T n.2408A>T n.2334A>T c.2188A>T (p.Lys730Ter) c.2167A>T (p.Lys723Ter) n.2371A>T n.2297A>T n.2526A>T n.2274A>T n.2200A>T | |
12 | g.48145107A>C | CA384555882 | PFKM | c.2291A>C (p.Lys764Thr) c.2282A>C (p.Lys761Thr) c.2069A>C (p.Lys690Thr) c.1811A>C (p.Lys604Thr) c.2378A>C (p.Lys793Thr) n.2393A>C c.*2337A>C (n.*2337A>C) c.1976A>C (p.Lys659Thr) c.2285A>C (p.Lys762Thr) c.2213A>C (p.Lys738Thr) c.2093A>C (p.Lys698Thr) c.1982A>C (p.Lys661Thr) c.1943A>C (p.Lys648Thr) c.1919A>C (p.Lys640Thr) n.2506A>C n.3142A>C n.2432A>C n.2661A>C n.2409A>C n.2335A>C c.2189A>C (p.Lys730Thr) c.2168A>C (p.Lys723Thr) n.2372A>C n.2298A>C n.2527A>C n.2275A>C n.2201A>C | |
12 | g.48145107A>G | CA384555883 | PFKM | c.2291A>G (p.Lys764Arg) c.2282A>G (p.Lys761Arg) c.2069A>G (p.Lys690Arg) c.1811A>G (p.Lys604Arg) c.2378A>G (p.Lys793Arg) n.2393A>G c.*2337A>G (n.*2337A>G) c.1976A>G (p.Lys659Arg) c.2285A>G (p.Lys762Arg) c.2213A>G (p.Lys738Arg) c.2093A>G (p.Lys698Arg) c.1982A>G (p.Lys661Arg) c.1943A>G (p.Lys648Arg) c.1919A>G (p.Lys640Arg) n.2506A>G n.3142A>G n.2432A>G n.2661A>G n.2409A>G n.2335A>G c.2189A>G (p.Lys730Arg) c.2168A>G (p.Lys723Arg) n.2372A>G n.2298A>G n.2527A>G n.2275A>G n.2201A>G | |
12 | g.48145107A>T | CA384555884 | PFKM | c.2291A>T (p.Lys764Ile) c.2282A>T (p.Lys761Ile) c.2069A>T (p.Lys690Ile) c.1811A>T (p.Lys604Ile) c.2378A>T (p.Lys793Ile) n.2393A>T c.*2337A>T (n.*2337A>T) c.1976A>T (p.Lys659Ile) c.2285A>T (p.Lys762Ile) c.2213A>T (p.Lys738Ile) c.2093A>T (p.Lys698Ile) c.1982A>T (p.Lys661Ile) c.1943A>T (p.Lys648Ile) c.1919A>T (p.Lys640Ile) n.2506A>T n.3142A>T n.2432A>T n.2661A>T n.2409A>T n.2335A>T c.2189A>T (p.Lys730Ile) c.2168A>T (p.Lys723Ile) n.2372A>T n.2298A>T n.2527A>T n.2275A>T n.2201A>T | |
12 | g.48145108A= | CA2034544987 | PFKM | c.2292A= (p.Lys764=) c.2283A= (p.Lys761=) c.2070A= (p.Lys690=) c.1812A= (p.Lys604=) c.2379A= (p.Lys793=) n.2394A= c.*2338A= (n.*2338A=) c.1977A= (p.Lys659=) c.2286A= (p.Lys762=) c.2214A= (p.Lys738=) c.2094A= (p.Lys698=) c.1983A= (p.Lys661=) c.1944A= (p.Lys648=) c.1920A= (p.Lys640=) n.2507A= n.3143A= n.2433A= n.2662A= n.2410A= n.2336A= c.2190A= (p.Lys730=) c.2169A= (p.Lys723=) n.2373A= n.2299A= n.2528A= n.2276A= n.2202A= | |
12 | g.48145108A>C | CA384555886 | PFKM | c.2292A>C (p.Lys764Asn) c.2283A>C (p.Lys761Asn) c.2070A>C (p.Lys690Asn) c.1812A>C (p.Lys604Asn) c.2379A>C (p.Lys793Asn) n.2394A>C c.*2338A>C (n.*2338A>C) c.1977A>C (p.Lys659Asn) c.2286A>C (p.Lys762Asn) c.2214A>C (p.Lys738Asn) c.2094A>C (p.Lys698Asn) c.1983A>C (p.Lys661Asn) c.1944A>C (p.Lys648Asn) c.1920A>C (p.Lys640Asn) n.2507A>C n.3143A>C n.2433A>C n.2662A>C n.2410A>C n.2336A>C c.2190A>C (p.Lys730Asn) c.2169A>C (p.Lys723Asn) n.2373A>C n.2299A>C n.2528A>C n.2276A>C n.2202A>C | |
12 | g.48145108A>G | CA479459822 | PFKM | c.2292A>G (p.Lys764=) c.2283A>G (p.Lys761=) c.2070A>G (p.Lys690=) c.1812A>G (p.Lys604=) c.2379A>G (p.Lys793=) n.2394A>G c.*2338A>G (n.*2338A>G) c.1977A>G (p.Lys659=) c.2286A>G (p.Lys762=) c.2214A>G (p.Lys738=) c.2094A>G (p.Lys698=) c.1983A>G (p.Lys661=) c.1944A>G (p.Lys648=) c.1920A>G (p.Lys640=) n.2507A>G n.3143A>G n.2433A>G n.2662A>G n.2410A>G n.2336A>G c.2190A>G (p.Lys730=) c.2169A>G (p.Lys723=) n.2373A>G n.2299A>G n.2528A>G n.2276A>G n.2202A>G | ClinVar dbSNP |
12 | g.48145108A>T | CA384555885 | PFKM | c.2292A>T (p.Lys764Asn) c.2283A>T (p.Lys761Asn) c.2070A>T (p.Lys690Asn) c.1812A>T (p.Lys604Asn) c.2379A>T (p.Lys793Asn) n.2394A>T c.*2338A>T (n.*2338A>T) c.1977A>T (p.Lys659Asn) c.2286A>T (p.Lys762Asn) c.2214A>T (p.Lys738Asn) c.2094A>T (p.Lys698Asn) c.1983A>T (p.Lys661Asn) c.1944A>T (p.Lys648Asn) c.1920A>T (p.Lys640Asn) n.2507A>T n.3143A>T n.2433A>T n.2662A>T n.2410A>T n.2336A>T c.2190A>T (p.Lys730Asn) c.2169A>T (p.Lys723Asn) n.2373A>T n.2299A>T n.2528A>T n.2276A>T n.2202A>T | |
12 | g.48145109A>C | CA384555887 | PFKM | c.2293A>C (p.Ile765Leu) c.2284A>C (p.Ile762Leu) c.2071A>C (p.Ile691Leu) c.1813A>C (p.Ile605Leu) c.2380A>C (p.Ile794Leu) n.2395A>C c.*2339A>C (n.*2339A>C) c.1978A>C (p.Ile660Leu) c.2287A>C (p.Ile763Leu) c.2215A>C (p.Ile739Leu) c.2095A>C (p.Ile699Leu) c.1984A>C (p.Ile662Leu) c.1945A>C (p.Ile649Leu) c.1921A>C (p.Ile641Leu) n.2508A>C n.3144A>C n.2434A>C n.2663A>C n.2411A>C n.2337A>C c.2191A>C (p.Ile731Leu) c.2170A>C (p.Ile724Leu) n.2374A>C n.2300A>C n.2529A>C n.2277A>C n.2203A>C | |
12 | g.48145109A>G | CA384555889 | PFKM | c.2293A>G (p.Ile765Val) c.2284A>G (p.Ile762Val) c.2071A>G (p.Ile691Val) c.1813A>G (p.Ile605Val) c.2380A>G (p.Ile794Val) n.2395A>G c.*2339A>G (n.*2339A>G) c.1978A>G (p.Ile660Val) c.2287A>G (p.Ile763Val) c.2215A>G (p.Ile739Val) c.2095A>G (p.Ile699Val) c.1984A>G (p.Ile662Val) c.1945A>G (p.Ile649Val) c.1921A>G (p.Ile641Val) n.2508A>G n.3144A>G n.2434A>G n.2663A>G n.2411A>G n.2337A>G c.2191A>G (p.Ile731Val) c.2170A>G (p.Ile724Val) n.2374A>G n.2300A>G n.2529A>G n.2277A>G n.2203A>G | |
12 | g.48145109A>T | CA384555888 | PFKM | c.2293A>T (p.Ile765Phe) c.2284A>T (p.Ile762Phe) c.2071A>T (p.Ile691Phe) c.1813A>T (p.Ile605Phe) c.2380A>T (p.Ile794Phe) n.2395A>T c.*2339A>T (n.*2339A>T) c.1978A>T (p.Ile660Phe) c.2287A>T (p.Ile763Phe) c.2215A>T (p.Ile739Phe) c.2095A>T (p.Ile699Phe) c.1984A>T (p.Ile662Phe) c.1945A>T (p.Ile649Phe) c.1921A>T (p.Ile641Phe) n.2508A>T n.3144A>T n.2434A>T n.2663A>T n.2411A>T n.2337A>T c.2191A>T (p.Ile731Phe) c.2170A>T (p.Ile724Phe) n.2374A>T n.2300A>T n.2529A>T n.2277A>T n.2203A>T | |
12 | g.48145110T>A | CA384555890 | PFKM | c.2294T>A (p.Ile765Asn) c.2285T>A (p.Ile762Asn) c.2072T>A (p.Ile691Asn) c.1814T>A (p.Ile605Asn) c.2381T>A (p.Ile794Asn) n.2396T>A c.*2340T>A (n.*2340T>A) c.1979T>A (p.Ile660Asn) c.2288T>A (p.Ile763Asn) c.2216T>A (p.Ile739Asn) c.2096T>A (p.Ile699Asn) c.1985T>A (p.Ile662Asn) c.1946T>A (p.Ile649Asn) c.1922T>A (p.Ile641Asn) n.2509T>A n.3145T>A n.2435T>A n.2664T>A n.2412T>A n.2338T>A c.2192T>A (p.Ile731Asn) c.2171T>A (p.Ile724Asn) n.2375T>A n.2301T>A n.2530T>A n.2278T>A n.2204T>A | |
12 | g.48145110T>C | CA384555891 | PFKM | c.2294T>C (p.Ile765Thr) c.2285T>C (p.Ile762Thr) c.2072T>C (p.Ile691Thr) c.1814T>C (p.Ile605Thr) c.2381T>C (p.Ile794Thr) n.2396T>C c.*2340T>C (n.*2340T>C) c.1979T>C (p.Ile660Thr) c.2288T>C (p.Ile763Thr) c.2216T>C (p.Ile739Thr) c.2096T>C (p.Ile699Thr) c.1985T>C (p.Ile662Thr) c.1946T>C (p.Ile649Thr) c.1922T>C (p.Ile641Thr) n.2509T>C n.3145T>C n.2435T>C n.2664T>C n.2412T>C n.2338T>C c.2192T>C (p.Ile731Thr) c.2171T>C (p.Ile724Thr) n.2375T>C n.2301T>C n.2530T>C n.2278T>C n.2204T>C | |
12 | g.48145110T>G | CA6537522 | PFKM | c.2294T>G (p.Ile765Ser) c.2285T>G (p.Ile762Ser) c.2072T>G (p.Ile691Ser) c.1814T>G (p.Ile605Ser) c.2381T>G (p.Ile794Ser) n.2396T>G c.*2340T>G (n.*2340T>G) c.1979T>G (p.Ile660Ser) c.2288T>G (p.Ile763Ser) c.2216T>G (p.Ile739Ser) c.2096T>G (p.Ile699Ser) c.1985T>G (p.Ile662Ser) c.1946T>G (p.Ile649Ser) c.1922T>G (p.Ile641Ser) n.2509T>G n.3145T>G n.2435T>G n.2664T>G n.2412T>G n.2338T>G c.2192T>G (p.Ile731Ser) c.2171T>G (p.Ile724Ser) n.2375T>G n.2301T>G n.2530T>G n.2278T>G n.2204T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145110T= | CA2034544994 | PFKM | c.2294T= (p.Ile765=) c.2285T= (p.Ile762=) c.2072T= (p.Ile691=) c.1814T= (p.Ile605=) c.2381T= (p.Ile794=) n.2396T= c.*2340T= (n.*2340T=) c.1979T= (p.Ile660=) c.2288T= (p.Ile763=) c.2216T= (p.Ile739=) c.2096T= (p.Ile699=) c.1985T= (p.Ile662=) c.1946T= (p.Ile649=) c.1922T= (p.Ile641=) n.2509T= n.3145T= n.2435T= n.2664T= n.2412T= n.2338T= c.2192T= (p.Ile731=) c.2171T= (p.Ile724=) n.2375T= n.2301T= n.2530T= n.2278T= n.2204T= | |
12 | g.48145111C>A | CA479459831 | PFKM | c.2295C>A (p.Ile765=) c.2286C>A (p.Ile762=) c.2073C>A (p.Ile691=) c.1815C>A (p.Ile605=) c.2382C>A (p.Ile794=) n.2397C>A c.*2341C>A (n.*2341C>A) c.1980C>A (p.Ile660=) c.2289C>A (p.Ile763=) c.2217C>A (p.Ile739=) c.2097C>A (p.Ile699=) c.1986C>A (p.Ile662=) c.1947C>A (p.Ile649=) c.1923C>A (p.Ile641=) n.2510C>A n.3146C>A n.2436C>A n.2665C>A n.2413C>A n.2339C>A c.2193C>A (p.Ile731=) c.2172C>A (p.Ile724=) n.2376C>A n.2302C>A n.2531C>A n.2279C>A n.2205C>A | ClinVar gnomAD v4 |
12 | g.48145111C= | CA2034544998 | PFKM | c.2295C= (p.Ile765=) c.2286C= (p.Ile762=) c.2073C= (p.Ile691=) c.1815C= (p.Ile605=) c.2382C= (p.Ile794=) n.2397C= c.*2341C= (n.*2341C=) c.1980C= (p.Ile660=) c.2289C= (p.Ile763=) c.2217C= (p.Ile739=) c.2097C= (p.Ile699=) c.1986C= (p.Ile662=) c.1947C= (p.Ile649=) c.1923C= (p.Ile641=) n.2510C= n.3146C= n.2436C= n.2665C= n.2413C= n.2339C= c.2193C= (p.Ile731=) c.2172C= (p.Ile724=) n.2376C= n.2302C= n.2531C= n.2279C= n.2205C= | |
12 | g.48145111C>G | CA384555892 | PFKM | c.2295C>G (p.Ile765Met) c.2286C>G (p.Ile762Met) c.2073C>G (p.Ile691Met) c.1815C>G (p.Ile605Met) c.2382C>G (p.Ile794Met) n.2397C>G c.*2341C>G (n.*2341C>G) c.1980C>G (p.Ile660Met) c.2289C>G (p.Ile763Met) c.2217C>G (p.Ile739Met) c.2097C>G (p.Ile699Met) c.1986C>G (p.Ile662Met) c.1947C>G (p.Ile649Met) c.1923C>G (p.Ile641Met) n.2510C>G n.3146C>G n.2436C>G n.2665C>G n.2413C>G n.2339C>G c.2193C>G (p.Ile731Met) c.2172C>G (p.Ile724Met) n.2376C>G n.2302C>G n.2531C>G n.2279C>G n.2205C>G | dbSNP COSMIC |
12 | g.48145111C>T | CA479459834 | PFKM | c.2295C>T (p.Ile765=) c.2286C>T (p.Ile762=) c.2073C>T (p.Ile691=) c.1815C>T (p.Ile605=) c.2382C>T (p.Ile794=) n.2397C>T c.*2341C>T (n.*2341C>T) c.1980C>T (p.Ile660=) c.2289C>T (p.Ile763=) c.2217C>T (p.Ile739=) c.2097C>T (p.Ile699=) c.1986C>T (p.Ile662=) c.1947C>T (p.Ile649=) c.1923C>T (p.Ile641=) n.2510C>T n.3146C>T n.2436C>T n.2665C>T n.2413C>T n.2339C>T c.2193C>T (p.Ile731=) c.2172C>T (p.Ile724=) n.2376C>T n.2302C>T n.2531C>T n.2279C>T n.2205C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.48145112A>C | CA384555893 | PFKM | c.2296A>C (p.Lys766Gln) c.2287A>C (p.Lys763Gln) c.2074A>C (p.Lys692Gln) c.1816A>C (p.Lys606Gln) c.2383A>C (p.Lys795Gln) n.2398A>C c.*2342A>C (n.*2342A>C) c.1981A>C (p.Lys661Gln) c.2290A>C (p.Lys764Gln) c.2218A>C (p.Lys740Gln) c.2098A>C (p.Lys700Gln) c.1987A>C (p.Lys663Gln) c.1948A>C (p.Lys650Gln) c.1924A>C (p.Lys642Gln) n.2511A>C n.3147A>C n.2437A>C n.2666A>C n.2414A>C n.2340A>C c.2194A>C (p.Lys732Gln) c.2173A>C (p.Lys725Gln) n.2377A>C n.2303A>C n.2532A>C n.2280A>C n.2206A>C | |
12 | g.48145112A>G | CA384555894 | PFKM | c.2296A>G (p.Lys766Glu) c.2287A>G (p.Lys763Glu) c.2074A>G (p.Lys692Glu) c.1816A>G (p.Lys606Glu) c.2383A>G (p.Lys795Glu) n.2398A>G c.*2342A>G (n.*2342A>G) c.1981A>G (p.Lys661Glu) c.2290A>G (p.Lys764Glu) c.2218A>G (p.Lys740Glu) c.2098A>G (p.Lys700Glu) c.1987A>G (p.Lys663Glu) c.1948A>G (p.Lys650Glu) c.1924A>G (p.Lys642Glu) n.2511A>G n.3147A>G n.2437A>G n.2666A>G n.2414A>G n.2340A>G c.2194A>G (p.Lys732Glu) c.2173A>G (p.Lys725Glu) n.2377A>G n.2303A>G n.2532A>G n.2280A>G n.2206A>G | |
12 | g.48145112A>T | CA384555895 | PFKM | c.2296A>T (p.Lys766Ter) c.2287A>T (p.Lys763Ter) c.2074A>T (p.Lys692Ter) c.1816A>T (p.Lys606Ter) c.2383A>T (p.Lys795Ter) n.2398A>T c.*2342A>T (n.*2342A>T) c.1981A>T (p.Lys661Ter) c.2290A>T (p.Lys764Ter) c.2218A>T (p.Lys740Ter) c.2098A>T (p.Lys700Ter) c.1987A>T (p.Lys663Ter) c.1948A>T (p.Lys650Ter) c.1924A>T (p.Lys642Ter) n.2511A>T n.3147A>T n.2437A>T n.2666A>T n.2414A>T n.2340A>T c.2194A>T (p.Lys732Ter) c.2173A>T (p.Lys725Ter) n.2377A>T n.2303A>T n.2532A>T n.2280A>T n.2206A>T | |
12 | g.48145113_48145114del | CA2573148749 | PFKM | c.2297_2298del (p.Lys766ArgfsTer5) c.2288_2289del (p.Lys763ArgfsTer5) c.2075_2076del (p.Lys692ArgfsTer5) c.1817_1818del (p.Lys606ArgfsTer5) c.2384_2385del (p.Lys795ArgfsTer5) n.2399_2400del c.*2343_*2344del (n.*2343_*2344del) c.1982_1983del (p.Lys661ArgfsTer5) c.2291_2292del (p.Lys764ArgfsTer5) c.2219_2220del (p.Lys740ArgfsTer5) c.2099_2100del (p.Lys700ArgfsTer5) c.1988_1989del (p.Lys663ArgfsTer5) c.1949_1950del (p.Lys650ArgfsTer5) c.1925_1926del (p.Lys642ArgfsTer5) n.2512_2513del n.3148_3149del n.2438_2439del n.2667_2668del n.2415_2416del n.2341_2342del c.2195_2196del (p.Lys732ArgfsTer5) c.2174_2175del (p.Lys725ArgfsTer5) n.2378_2379del n.2304_2305del n.2533_2534del n.2281_2282del n.2207_2208del | ClinVar dbSNP |
12 | g.48145113A>C | CA384555896 | PFKM | c.2297A>C (p.Lys766Thr) c.2288A>C (p.Lys763Thr) c.2075A>C (p.Lys692Thr) c.1817A>C (p.Lys606Thr) c.2384A>C (p.Lys795Thr) n.2399A>C c.*2343A>C (n.*2343A>C) c.1982A>C (p.Lys661Thr) c.2291A>C (p.Lys764Thr) c.2219A>C (p.Lys740Thr) c.2099A>C (p.Lys700Thr) c.1988A>C (p.Lys663Thr) c.1949A>C (p.Lys650Thr) c.1925A>C (p.Lys642Thr) n.2512A>C n.3148A>C n.2438A>C n.2667A>C n.2415A>C n.2341A>C c.2195A>C (p.Lys732Thr) c.2174A>C (p.Lys725Thr) n.2378A>C n.2304A>C n.2533A>C n.2281A>C n.2207A>C | |
12 | g.48145113A>G | CA384555897 | PFKM | c.2297A>G (p.Lys766Arg) c.2288A>G (p.Lys763Arg) c.2075A>G (p.Lys692Arg) c.1817A>G (p.Lys606Arg) c.2384A>G (p.Lys795Arg) n.2399A>G c.*2343A>G (n.*2343A>G) c.1982A>G (p.Lys661Arg) c.2291A>G (p.Lys764Arg) c.2219A>G (p.Lys740Arg) c.2099A>G (p.Lys700Arg) c.1988A>G (p.Lys663Arg) c.1949A>G (p.Lys650Arg) c.1925A>G (p.Lys642Arg) n.2512A>G n.3148A>G n.2438A>G n.2667A>G n.2415A>G n.2341A>G c.2195A>G (p.Lys732Arg) c.2174A>G (p.Lys725Arg) n.2378A>G n.2304A>G n.2533A>G n.2281A>G n.2207A>G | gnomAD v4 |
12 | g.48145113A>T | CA384555898 | PFKM | c.2297A>T (p.Lys766Ile) c.2288A>T (p.Lys763Ile) c.2075A>T (p.Lys692Ile) c.1817A>T (p.Lys606Ile) c.2384A>T (p.Lys795Ile) n.2399A>T c.*2343A>T (n.*2343A>T) c.1982A>T (p.Lys661Ile) c.2291A>T (p.Lys764Ile) c.2219A>T (p.Lys740Ile) c.2099A>T (p.Lys700Ile) c.1988A>T (p.Lys663Ile) c.1949A>T (p.Lys650Ile) c.1925A>T (p.Lys642Ile) n.2512A>T n.3148A>T n.2438A>T n.2667A>T n.2415A>T n.2341A>T c.2195A>T (p.Lys732Ile) c.2174A>T (p.Lys725Ile) n.2378A>T n.2304A>T n.2533A>T n.2281A>T n.2207A>T | |
12 | g.48145113_48145115delinsAAG | CA2034545002 | PFKM | c.2297_2299delinsAAG (p.Lys766=) c.2288_2290delinsAAG (p.Lys763=) c.2075_2077delinsAAG (p.Lys692=) c.1817_1819delinsAAG (p.Lys606=) c.2384_2386delinsAAG (p.Lys795=) n.2399_2401delinsAAG c.*2343_*2345delinsAAG (n.*2343_*2345delinsAAG) c.1982_1984delinsAAG (p.Lys661=) c.2291_2293delinsAAG (p.Lys764=) c.2219_2221delinsAAG (p.Lys740=) c.2099_2101delinsAAG (p.Lys700=) c.1988_1990delinsAAG (p.Lys663=) c.1949_1951delinsAAG (p.Lys650=) c.1925_1927delinsAAG (p.Lys642=) n.2512_2514delinsAAG n.3148_3150delinsAAG n.2438_2440delinsAAG n.2667_2669delinsAAG n.2415_2417delinsAAG n.2341_2343delinsAAG c.2195_2197delinsAAG (p.Lys732=) c.2174_2176delinsAAG (p.Lys725=) n.2378_2380delinsAAG n.2304_2306delinsAAG n.2533_2535delinsAAG n.2281_2283delinsAAG n.2207_2209delinsAAG | |
12 | g.48145114A>C | CA384555899 | PFKM | c.2298A>C (p.Lys766Asn) c.2289A>C (p.Lys763Asn) c.2076A>C (p.Lys692Asn) c.1818A>C (p.Lys606Asn) c.2385A>C (p.Lys795Asn) n.2400A>C c.*2344A>C (n.*2344A>C) c.1983A>C (p.Lys661Asn) c.2292A>C (p.Lys764Asn) c.2220A>C (p.Lys740Asn) c.2100A>C (p.Lys700Asn) c.1989A>C (p.Lys663Asn) c.1950A>C (p.Lys650Asn) c.1926A>C (p.Lys642Asn) n.2513A>C n.3149A>C n.2439A>C n.2668A>C n.2416A>C n.2342A>C c.2196A>C (p.Lys732Asn) c.2175A>C (p.Lys725Asn) n.2379A>C n.2305A>C n.2534A>C n.2282A>C n.2208A>C | |
12 | g.48145114A>G | CA479459843 | PFKM | c.2298A>G (p.Lys766=) c.2289A>G (p.Lys763=) c.2076A>G (p.Lys692=) c.1818A>G (p.Lys606=) c.2385A>G (p.Lys795=) n.2400A>G c.*2344A>G (n.*2344A>G) c.1983A>G (p.Lys661=) c.2292A>G (p.Lys764=) c.2220A>G (p.Lys740=) c.2100A>G (p.Lys700=) c.1989A>G (p.Lys663=) c.1950A>G (p.Lys650=) c.1926A>G (p.Lys642=) n.2513A>G n.3149A>G n.2439A>G n.2668A>G n.2416A>G n.2342A>G c.2196A>G (p.Lys732=) c.2175A>G (p.Lys725=) n.2379A>G n.2305A>G n.2534A>G n.2282A>G n.2208A>G | |
12 | g.48145114A>T | CA384555900 | PFKM | c.2298A>T (p.Lys766Asn) c.2289A>T (p.Lys763Asn) c.2076A>T (p.Lys692Asn) c.1818A>T (p.Lys606Asn) c.2385A>T (p.Lys795Asn) n.2400A>T c.*2344A>T (n.*2344A>T) c.1983A>T (p.Lys661Asn) c.2292A>T (p.Lys764Asn) c.2220A>T (p.Lys740Asn) c.2100A>T (p.Lys700Asn) c.1989A>T (p.Lys663Asn) c.1950A>T (p.Lys650Asn) c.1926A>T (p.Lys642Asn) n.2513A>T n.3149A>T n.2439A>T n.2668A>T n.2416A>T n.2342A>T c.2196A>T (p.Lys732Asn) c.2175A>T (p.Lys725Asn) n.2379A>T n.2305A>T n.2534A>T n.2282A>T n.2208A>T | |
12 | g.48145116_48145119dup | CA915947912 | PFKM | c.2300_2303dup (p.Ser768ArgfsTer5) c.2291_2294dup (p.Ser765ArgfsTer5) c.2078_2081dup (p.Ser694ArgfsTer5) c.1820_1823dup (p.Ser608ArgfsTer5) c.2387_2390dup (p.Ser797ArgfsTer5) n.2402_2405dup c.*2346_*2349dup (n.*2346_*2349dup) c.1985_1988dup (p.Ser663ArgfsTer5) c.2294_2297dup (p.Ser766ArgfsTer5) c.2222_2225dup (p.Ser742ArgfsTer5) c.2102_2105dup (p.Ser702ArgfsTer5) c.1991_1994dup (p.Ser665ArgfsTer5) c.1952_1955dup (p.Ser652ArgfsTer5) c.1928_1931dup (p.Ser644ArgfsTer5) n.2515_2518dup n.3151_3154dup n.2441_2444dup n.2670_2673dup n.2418_2421dup n.2344_2347dup c.2198_2201dup (p.Ser734ArgfsTer5) c.2177_2180dup (p.Ser727ArgfsTer5) n.2381_2384dup n.2307_2310dup n.2536_2539dup n.2284_2287dup n.2210_2213dup | ClinVar dbSNP |
12 | g.48145118_48145119del | CA604849298 | PFKM | c.2302_2303del (p.Ser768LeufsTer3) c.2293_2294del (p.Ser765LeufsTer3) c.2080_2081del (p.Ser694LeufsTer3) c.1822_1823del (p.Ser608LeufsTer3) c.2389_2390del (p.Ser797LeufsTer3) n.2404_2405del c.*2348_*2349del (n.*2348_*2349del) c.1987_1988del (p.Ser663LeufsTer3) c.2296_2297del (p.Ser766LeufsTer3) c.2224_2225del (p.Ser742LeufsTer3) c.2104_2105del (p.Ser702LeufsTer3) c.1993_1994del (p.Ser665LeufsTer3) c.1954_1955del (p.Ser652LeufsTer3) c.1930_1931del (p.Ser644LeufsTer3) n.2517_2518del n.3153_3154del n.2443_2444del n.2672_2673del n.2420_2421del n.2346_2347del c.2200_2201del (p.Ser734LeufsTer3) c.2179_2180del (p.Ser727LeufsTer3) n.2383_2384del n.2309_2310del n.2538_2539del n.2286_2287del n.2212_2213del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145115G>A | CA384555901 | PFKM | c.2299G>A (p.Glu767Lys) c.2290G>A (p.Glu764Lys) c.2077G>A (p.Glu693Lys) c.1819G>A (p.Glu607Lys) c.2386G>A (p.Glu796Lys) n.2401G>A c.*2345G>A (n.*2345G>A) c.1984G>A (p.Glu662Lys) c.2293G>A (p.Glu765Lys) c.2221G>A (p.Glu741Lys) c.2101G>A (p.Glu701Lys) c.1990G>A (p.Glu664Lys) c.1951G>A (p.Glu651Lys) c.1927G>A (p.Glu643Lys) n.2514G>A n.3150G>A n.2440G>A n.2669G>A n.2417G>A n.2343G>A c.2197G>A (p.Glu733Lys) c.2176G>A (p.Glu726Lys) n.2380G>A n.2306G>A n.2535G>A n.2283G>A n.2209G>A | |
12 | g.48145115G>C | CA384555902 | PFKM | c.2299G>C (p.Glu767Gln) c.2290G>C (p.Glu764Gln) c.2077G>C (p.Glu693Gln) c.1819G>C (p.Glu607Gln) c.2386G>C (p.Glu796Gln) n.2401G>C c.*2345G>C (n.*2345G>C) c.1984G>C (p.Glu662Gln) c.2293G>C (p.Glu765Gln) c.2221G>C (p.Glu741Gln) c.2101G>C (p.Glu701Gln) c.1990G>C (p.Glu664Gln) c.1951G>C (p.Glu651Gln) c.1927G>C (p.Glu643Gln) n.2514G>C n.3150G>C n.2440G>C n.2669G>C n.2417G>C n.2343G>C c.2197G>C (p.Glu733Gln) c.2176G>C (p.Glu726Gln) n.2380G>C n.2306G>C n.2535G>C n.2283G>C n.2209G>C | ClinVar gnomAD v4 |
12 | g.48145115G>T | CA384555903 | PFKM | c.2299G>T (p.Glu767Ter) c.2290G>T (p.Glu764Ter) c.2077G>T (p.Glu693Ter) c.1819G>T (p.Glu607Ter) c.2386G>T (p.Glu796Ter) n.2401G>T c.*2345G>T (n.*2345G>T) c.1984G>T (p.Glu662Ter) c.2293G>T (p.Glu765Ter) c.2221G>T (p.Glu741Ter) c.2101G>T (p.Glu701Ter) c.1990G>T (p.Glu664Ter) c.1951G>T (p.Glu651Ter) c.1927G>T (p.Glu643Ter) n.2514G>T n.3150G>T n.2440G>T n.2669G>T n.2417G>T n.2343G>T c.2197G>T (p.Glu733Ter) c.2176G>T (p.Glu726Ter) n.2380G>T n.2306G>T n.2535G>T n.2283G>T n.2209G>T | |
12 | g.48145116A>C | CA384555904 | PFKM | c.2300A>C (p.Glu767Ala) c.2291A>C (p.Glu764Ala) c.2078A>C (p.Glu693Ala) c.1820A>C (p.Glu607Ala) c.2387A>C (p.Glu796Ala) n.2402A>C c.*2346A>C (n.*2346A>C) c.1985A>C (p.Glu662Ala) c.2294A>C (p.Glu765Ala) c.2222A>C (p.Glu741Ala) c.2102A>C (p.Glu701Ala) c.1991A>C (p.Glu664Ala) c.1952A>C (p.Glu651Ala) c.1928A>C (p.Glu643Ala) n.2515A>C n.3151A>C n.2441A>C n.2670A>C n.2418A>C n.2344A>C c.2198A>C (p.Glu733Ala) c.2177A>C (p.Glu726Ala) n.2381A>C n.2307A>C n.2536A>C n.2284A>C n.2210A>C | |
12 | g.48145116A>G | CA384555906 | PFKM | c.2300A>G (p.Glu767Gly) c.2291A>G (p.Glu764Gly) c.2078A>G (p.Glu693Gly) c.1820A>G (p.Glu607Gly) c.2387A>G (p.Glu796Gly) n.2402A>G c.*2346A>G (n.*2346A>G) c.1985A>G (p.Glu662Gly) c.2294A>G (p.Glu765Gly) c.2222A>G (p.Glu741Gly) c.2102A>G (p.Glu701Gly) c.1991A>G (p.Glu664Gly) c.1952A>G (p.Glu651Gly) c.1928A>G (p.Glu643Gly) n.2515A>G n.3151A>G n.2441A>G n.2670A>G n.2418A>G n.2344A>G c.2198A>G (p.Glu733Gly) c.2177A>G (p.Glu726Gly) n.2381A>G n.2307A>G n.2536A>G n.2284A>G n.2210A>G | |
12 | g.48145116A>T | CA384555905 | PFKM | c.2300A>T (p.Glu767Val) c.2291A>T (p.Glu764Val) c.2078A>T (p.Glu693Val) c.1820A>T (p.Glu607Val) c.2387A>T (p.Glu796Val) n.2402A>T c.*2346A>T (n.*2346A>T) c.1985A>T (p.Glu662Val) c.2294A>T (p.Glu765Val) c.2222A>T (p.Glu741Val) c.2102A>T (p.Glu701Val) c.1991A>T (p.Glu664Val) c.1952A>T (p.Glu651Val) c.1928A>T (p.Glu643Val) n.2515A>T n.3151A>T n.2441A>T n.2670A>T n.2418A>T n.2344A>T c.2198A>T (p.Glu733Val) c.2177A>T (p.Glu726Val) n.2381A>T n.2307A>T n.2536A>T n.2284A>T n.2210A>T | |
12 | g.48145117G>A | CA479459855 | PFKM | c.2301G>A (p.Glu767=) c.2292G>A (p.Glu764=) c.2079G>A (p.Glu693=) c.1821G>A (p.Glu607=) c.2388G>A (p.Glu796=) n.2403G>A c.*2347G>A (n.*2347G>A) c.1986G>A (p.Glu662=) c.2295G>A (p.Glu765=) c.2223G>A (p.Glu741=) c.2103G>A (p.Glu701=) c.1992G>A (p.Glu664=) c.1953G>A (p.Glu651=) c.1929G>A (p.Glu643=) n.2516G>A n.3152G>A n.2442G>A n.2671G>A n.2419G>A n.2345G>A c.2199G>A (p.Glu733=) c.2178G>A (p.Glu726=) n.2382G>A n.2308G>A n.2537G>A n.2285G>A n.2211G>A | |
12 | g.48145117G>C | CA236519741 | PFKM | c.2301G>C (p.Glu767Asp) c.2292G>C (p.Glu764Asp) c.2079G>C (p.Glu693Asp) c.1821G>C (p.Glu607Asp) c.2388G>C (p.Glu796Asp) n.2403G>C c.*2347G>C (n.*2347G>C) c.1986G>C (p.Glu662Asp) c.2295G>C (p.Glu765Asp) c.2223G>C (p.Glu741Asp) c.2103G>C (p.Glu701Asp) c.1992G>C (p.Glu664Asp) c.1953G>C (p.Glu651Asp) c.1929G>C (p.Glu643Asp) n.2516G>C n.3152G>C n.2442G>C n.2671G>C n.2419G>C n.2345G>C c.2199G>C (p.Glu733Asp) c.2178G>C (p.Glu726Asp) n.2382G>C n.2308G>C n.2537G>C n.2285G>C n.2211G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.48145117G= | CA2034545015 | PFKM | c.2301G= (p.Glu767=) c.2292G= (p.Glu764=) c.2079G= (p.Glu693=) c.1821G= (p.Glu607=) c.2388G= (p.Glu796=) n.2403G= c.*2347G= (n.*2347G=) c.1986G= (p.Glu662=) c.2295G= (p.Glu765=) c.2223G= (p.Glu741=) c.2103G= (p.Glu701=) c.1992G= (p.Glu664=) c.1953G= (p.Glu651=) c.1929G= (p.Glu643=) n.2516G= n.3152G= n.2442G= n.2671G= n.2419G= n.2345G= c.2199G= (p.Glu733=) c.2178G= (p.Glu726=) n.2382G= n.2308G= n.2537G= n.2285G= n.2211G= | |
12 | g.48145117G>T | CA384555907 | PFKM | c.2301G>T (p.Glu767Asp) c.2292G>T (p.Glu764Asp) c.2079G>T (p.Glu693Asp) c.1821G>T (p.Glu607Asp) c.2388G>T (p.Glu796Asp) n.2403G>T c.*2347G>T (n.*2347G>T) c.1986G>T (p.Glu662Asp) c.2295G>T (p.Glu765Asp) c.2223G>T (p.Glu741Asp) c.2103G>T (p.Glu701Asp) c.1992G>T (p.Glu664Asp) c.1953G>T (p.Glu651Asp) c.1929G>T (p.Glu643Asp) n.2516G>T n.3152G>T n.2442G>T n.2671G>T n.2419G>T n.2345G>T c.2199G>T (p.Glu733Asp) c.2178G>T (p.Glu726Asp) n.2382G>T n.2308G>T n.2537G>T n.2285G>T n.2211G>T | |
12 | g.48145118A>C | CA384555908 | PFKM | c.2302A>C (p.Ser768Arg) c.2293A>C (p.Ser765Arg) c.2080A>C (p.Ser694Arg) c.1822A>C (p.Ser608Arg) c.2389A>C (p.Ser797Arg) n.2404A>C c.*2348A>C (n.*2348A>C) c.1987A>C (p.Ser663Arg) c.2296A>C (p.Ser766Arg) c.2224A>C (p.Ser742Arg) c.2104A>C (p.Ser702Arg) c.1993A>C (p.Ser665Arg) c.1954A>C (p.Ser652Arg) c.1930A>C (p.Ser644Arg) n.2517A>C n.3153A>C n.2443A>C n.2672A>C n.2420A>C n.2346A>C c.2200A>C (p.Ser734Arg) c.2179A>C (p.Ser727Arg) n.2383A>C n.2309A>C n.2538A>C n.2286A>C n.2212A>C | |
12 | g.48145118A>G | CA384555909 | PFKM | c.2302A>G (p.Ser768Gly) c.2293A>G (p.Ser765Gly) c.2080A>G (p.Ser694Gly) c.1822A>G (p.Ser608Gly) c.2389A>G (p.Ser797Gly) n.2404A>G c.*2348A>G (n.*2348A>G) c.1987A>G (p.Ser663Gly) c.2296A>G (p.Ser766Gly) c.2224A>G (p.Ser742Gly) c.2104A>G (p.Ser702Gly) c.1993A>G (p.Ser665Gly) c.1954A>G (p.Ser652Gly) c.1930A>G (p.Ser644Gly) n.2517A>G n.3153A>G n.2443A>G n.2672A>G n.2420A>G n.2346A>G c.2200A>G (p.Ser734Gly) c.2179A>G (p.Ser727Gly) n.2383A>G n.2309A>G n.2538A>G n.2286A>G n.2212A>G | |
12 | g.48145118A>T | CA384555910 | PFKM | c.2302A>T (p.Ser768Cys) c.2293A>T (p.Ser765Cys) c.2080A>T (p.Ser694Cys) c.1822A>T (p.Ser608Cys) c.2389A>T (p.Ser797Cys) n.2404A>T c.*2348A>T (n.*2348A>T) c.1987A>T (p.Ser663Cys) c.2296A>T (p.Ser766Cys) c.2224A>T (p.Ser742Cys) c.2104A>T (p.Ser702Cys) c.1993A>T (p.Ser665Cys) c.1954A>T (p.Ser652Cys) c.1930A>T (p.Ser644Cys) n.2517A>T n.3153A>T n.2443A>T n.2672A>T n.2420A>T n.2346A>T c.2200A>T (p.Ser734Cys) c.2179A>T (p.Ser727Cys) n.2383A>T n.2309A>T n.2538A>T n.2286A>T n.2212A>T | |
12 | g.48145119G>A | CA384555911 | PFKM | c.2303G>A (p.Ser768Asn) c.2294G>A (p.Ser765Asn) c.2081G>A (p.Ser694Asn) c.1823G>A (p.Ser608Asn) c.2390G>A (p.Ser797Asn) n.2405G>A c.*2349G>A (n.*2349G>A) c.1988G>A (p.Ser663Asn) c.2297G>A (p.Ser766Asn) c.2225G>A (p.Ser742Asn) c.2105G>A (p.Ser702Asn) c.1994G>A (p.Ser665Asn) c.1955G>A (p.Ser652Asn) c.1931G>A (p.Ser644Asn) n.2518G>A n.3154G>A n.2444G>A n.2673G>A n.2421G>A n.2347G>A c.2201G>A (p.Ser734Asn) c.2180G>A (p.Ser727Asn) n.2384G>A n.2310G>A n.2539G>A n.2287G>A n.2213G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48145119G>C | CA384555912 | PFKM | c.2303G>C (p.Ser768Thr) c.2294G>C (p.Ser765Thr) c.2081G>C (p.Ser694Thr) c.1823G>C (p.Ser608Thr) c.2390G>C (p.Ser797Thr) n.2405G>C c.*2349G>C (n.*2349G>C) c.1988G>C (p.Ser663Thr) c.2297G>C (p.Ser766Thr) c.2225G>C (p.Ser742Thr) c.2105G>C (p.Ser702Thr) c.1994G>C (p.Ser665Thr) c.1955G>C (p.Ser652Thr) c.1931G>C (p.Ser644Thr) n.2518G>C n.3154G>C n.2444G>C n.2673G>C n.2421G>C n.2347G>C c.2201G>C (p.Ser734Thr) c.2180G>C (p.Ser727Thr) n.2384G>C n.2310G>C n.2539G>C n.2287G>C n.2213G>C | gnomAD v4 |
12 | g.48145119G= | CA2034545020 | PFKM | c.2303G= (p.Ser768=) c.2294G= (p.Ser765=) c.2081G= (p.Ser694=) c.1823G= (p.Ser608=) c.2390G= (p.Ser797=) n.2405G= c.*2349G= (n.*2349G=) c.1988G= (p.Ser663=) c.2297G= (p.Ser766=) c.2225G= (p.Ser742=) c.2105G= (p.Ser702=) c.1994G= (p.Ser665=) c.1955G= (p.Ser652=) c.1931G= (p.Ser644=) n.2518G= n.3154G= n.2444G= n.2673G= n.2421G= n.2347G= c.2201G= (p.Ser734=) c.2180G= (p.Ser727=) n.2384G= n.2310G= n.2539G= n.2287G= n.2213G= | |
12 | g.48145119G>T | CA384555913 | PFKM | c.2303G>T (p.Ser768Ile) c.2294G>T (p.Ser765Ile) c.2081G>T (p.Ser694Ile) c.1823G>T (p.Ser608Ile) c.2390G>T (p.Ser797Ile) n.2405G>T c.*2349G>T (n.*2349G>T) c.1988G>T (p.Ser663Ile) c.2297G>T (p.Ser766Ile) c.2225G>T (p.Ser742Ile) c.2105G>T (p.Ser702Ile) c.1994G>T (p.Ser665Ile) c.1955G>T (p.Ser652Ile) c.1931G>T (p.Ser644Ile) n.2518G>T n.3154G>T n.2444G>T n.2673G>T n.2421G>T n.2347G>T c.2201G>T (p.Ser734Ile) c.2180G>T (p.Ser727Ile) n.2384G>T n.2310G>T n.2539G>T n.2287G>T n.2213G>T | |
12 | g.48145120T>A | CA384555914 | PFKM | c.2304T>A (p.Ser768Arg) c.2295T>A (p.Ser765Arg) c.2082T>A (p.Ser694Arg) c.1824T>A (p.Ser608Arg) c.2391T>A (p.Ser797Arg) n.2406T>A c.*2350T>A (n.*2350T>A) c.1989T>A (p.Ser663Arg) c.2298T>A (p.Ser766Arg) c.2226T>A (p.Ser742Arg) c.2106T>A (p.Ser702Arg) c.1995T>A (p.Ser665Arg) c.1956T>A (p.Ser652Arg) c.1932T>A (p.Ser644Arg) n.2519T>A n.3155T>A n.2445T>A n.2674T>A n.2422T>A n.2348T>A c.2202T>A (p.Ser734Arg) c.2181T>A (p.Ser727Arg) n.2385T>A n.2311T>A n.2540T>A n.2288T>A n.2214T>A | |
12 | g.48145120T>C | CA479459870 | PFKM | c.2304T>C (p.Ser768=) c.2295T>C (p.Ser765=) c.2082T>C (p.Ser694=) c.1824T>C (p.Ser608=) c.2391T>C (p.Ser797=) n.2406T>C c.*2350T>C (n.*2350T>C) c.1989T>C (p.Ser663=) c.2298T>C (p.Ser766=) c.2226T>C (p.Ser742=) c.2106T>C (p.Ser702=) c.1995T>C (p.Ser665=) c.1956T>C (p.Ser652=) c.1932T>C (p.Ser644=) n.2519T>C n.3155T>C n.2445T>C n.2674T>C n.2422T>C n.2348T>C c.2202T>C (p.Ser734=) c.2181T>C (p.Ser727=) n.2385T>C n.2311T>C n.2540T>C n.2288T>C n.2214T>C | |
12 | g.48145120T>G | CA384555915 | PFKM | c.2304T>G (p.Ser768Arg) c.2295T>G (p.Ser765Arg) c.2082T>G (p.Ser694Arg) c.1824T>G (p.Ser608Arg) c.2391T>G (p.Ser797Arg) n.2406T>G c.*2350T>G (n.*2350T>G) c.1989T>G (p.Ser663Arg) c.2298T>G (p.Ser766Arg) c.2226T>G (p.Ser742Arg) c.2106T>G (p.Ser702Arg) c.1995T>G (p.Ser665Arg) c.1956T>G (p.Ser652Arg) c.1932T>G (p.Ser644Arg) n.2519T>G n.3155T>G n.2445T>G n.2674T>G n.2422T>G n.2348T>G c.2202T>G (p.Ser734Arg) c.2181T>G (p.Ser727Arg) n.2385T>G n.2311T>G n.2540T>G n.2288T>G n.2214T>G | |
12 | g.48145121T>A | CA384555917 | PFKM | c.2305T>A (p.Tyr769Asn) c.2296T>A (p.Tyr766Asn) c.2083T>A (p.Tyr695Asn) c.1825T>A (p.Tyr609Asn) c.2392T>A (p.Tyr798Asn) n.2407T>A c.*2351T>A (n.*2351T>A) c.1990T>A (p.Tyr664Asn) c.2299T>A (p.Tyr767Asn) c.2227T>A (p.Tyr743Asn) c.2107T>A (p.Tyr703Asn) c.1996T>A (p.Tyr666Asn) c.1957T>A (p.Tyr653Asn) c.1933T>A (p.Tyr645Asn) n.2520T>A n.3156T>A n.2446T>A n.2675T>A n.2423T>A n.2349T>A c.2203T>A (p.Tyr735Asn) c.2182T>A (p.Tyr728Asn) n.2386T>A n.2312T>A n.2541T>A n.2289T>A n.2215T>A | |
12 | g.48145121T>C | CA384555918 | PFKM | c.2305T>C (p.Tyr769His) c.2296T>C (p.Tyr766His) c.2083T>C (p.Tyr695His) c.1825T>C (p.Tyr609His) c.2392T>C (p.Tyr798His) n.2407T>C c.*2351T>C (n.*2351T>C) c.1990T>C (p.Tyr664His) c.2299T>C (p.Tyr767His) c.2227T>C (p.Tyr743His) c.2107T>C (p.Tyr703His) c.1996T>C (p.Tyr666His) c.1957T>C (p.Tyr653His) c.1933T>C (p.Tyr645His) n.2520T>C n.3156T>C n.2446T>C n.2675T>C n.2423T>C n.2349T>C c.2203T>C (p.Tyr735His) c.2182T>C (p.Tyr728His) n.2386T>C n.2312T>C n.2541T>C n.2289T>C n.2215T>C | gnomAD v4 |
12 | g.48145121T>G | CA384555916 | PFKM | c.2305T>G (p.Tyr769Asp) c.2296T>G (p.Tyr766Asp) c.2083T>G (p.Tyr695Asp) c.1825T>G (p.Tyr609Asp) c.2392T>G (p.Tyr798Asp) n.2407T>G c.*2351T>G (n.*2351T>G) c.1990T>G (p.Tyr664Asp) c.2299T>G (p.Tyr767Asp) c.2227T>G (p.Tyr743Asp) c.2107T>G (p.Tyr703Asp) c.1996T>G (p.Tyr666Asp) c.1957T>G (p.Tyr653Asp) c.1933T>G (p.Tyr645Asp) n.2520T>G n.3156T>G n.2446T>G n.2675T>G n.2423T>G n.2349T>G c.2203T>G (p.Tyr735Asp) c.2182T>G (p.Tyr728Asp) n.2386T>G n.2312T>G n.2541T>G n.2289T>G n.2215T>G | |
12 | g.48145122A>C | CA384555919 | PFKM | c.2306A>C (p.Tyr769Ser) c.2297A>C (p.Tyr766Ser) c.2084A>C (p.Tyr695Ser) c.1826A>C (p.Tyr609Ser) c.2393A>C (p.Tyr798Ser) n.2408A>C c.*2352A>C (n.*2352A>C) c.1991A>C (p.Tyr664Ser) c.2300A>C (p.Tyr767Ser) c.2228A>C (p.Tyr743Ser) c.2108A>C (p.Tyr703Ser) c.1997A>C (p.Tyr666Ser) c.1958A>C (p.Tyr653Ser) c.1934A>C (p.Tyr645Ser) n.2521A>C n.3157A>C n.2447A>C n.2676A>C n.2424A>C n.2350A>C c.2204A>C (p.Tyr735Ser) c.2183A>C (p.Tyr728Ser) n.2387A>C n.2313A>C n.2542A>C n.2290A>C n.2216A>C | |
12 | g.48145122A>G | CA384555920 | PFKM | c.2306A>G (p.Tyr769Cys) c.2297A>G (p.Tyr766Cys) c.2084A>G (p.Tyr695Cys) c.1826A>G (p.Tyr609Cys) c.2393A>G (p.Tyr798Cys) n.2408A>G c.*2352A>G (n.*2352A>G) c.1991A>G (p.Tyr664Cys) c.2300A>G (p.Tyr767Cys) c.2228A>G (p.Tyr743Cys) c.2108A>G (p.Tyr703Cys) c.1997A>G (p.Tyr666Cys) c.1958A>G (p.Tyr653Cys) c.1934A>G (p.Tyr645Cys) n.2521A>G n.3157A>G n.2447A>G n.2676A>G n.2424A>G n.2350A>G c.2204A>G (p.Tyr735Cys) c.2183A>G (p.Tyr728Cys) n.2387A>G n.2313A>G n.2542A>G n.2290A>G n.2216A>G | |
12 | g.48145122A>T | CA384555921 | PFKM | c.2306A>T (p.Tyr769Phe) c.2297A>T (p.Tyr766Phe) c.2084A>T (p.Tyr695Phe) c.1826A>T (p.Tyr609Phe) c.2393A>T (p.Tyr798Phe) n.2408A>T c.*2352A>T (n.*2352A>T) c.1991A>T (p.Tyr664Phe) c.2300A>T (p.Tyr767Phe) c.2228A>T (p.Tyr743Phe) c.2108A>T (p.Tyr703Phe) c.1997A>T (p.Tyr666Phe) c.1958A>T (p.Tyr653Phe) c.1934A>T (p.Tyr645Phe) n.2521A>T n.3157A>T n.2447A>T n.2676A>T n.2424A>T n.2350A>T c.2204A>T (p.Tyr735Phe) c.2183A>T (p.Tyr728Phe) n.2387A>T n.2313A>T n.2542A>T n.2290A>T n.2216A>T | |
12 | g.48145123C>A | CA384555922 | PFKM | c.2307C>A (p.Tyr769Ter) c.2298C>A (p.Tyr766Ter) c.2085C>A (p.Tyr695Ter) c.1827C>A (p.Tyr609Ter) c.2394C>A (p.Tyr798Ter) n.2409C>A c.*2353C>A (n.*2353C>A) c.1992C>A (p.Tyr664Ter) c.2301C>A (p.Tyr767Ter) c.2229C>A (p.Tyr743Ter) c.2109C>A (p.Tyr703Ter) c.1998C>A (p.Tyr666Ter) c.1959C>A (p.Tyr653Ter) c.1935C>A (p.Tyr645Ter) n.2522C>A n.3158C>A n.2448C>A n.2677C>A n.2425C>A n.2351C>A c.2205C>A (p.Tyr735Ter) c.2184C>A (p.Tyr728Ter) n.2388C>A n.2314C>A n.2543C>A n.2291C>A n.2217C>A | |
12 | g.48145123C= | CA2034545032 | PFKM | c.2307C= (p.Tyr769=) c.2298C= (p.Tyr766=) c.2085C= (p.Tyr695=) c.1827C= (p.Tyr609=) c.2394C= (p.Tyr798=) n.2409C= c.*2353C= (n.*2353C=) c.1992C= (p.Tyr664=) c.2301C= (p.Tyr767=) c.2229C= (p.Tyr743=) c.2109C= (p.Tyr703=) c.1998C= (p.Tyr666=) c.1959C= (p.Tyr653=) c.1935C= (p.Tyr645=) n.2522C= n.3158C= n.2448C= n.2677C= n.2425C= n.2351C= c.2205C= (p.Tyr735=) c.2184C= (p.Tyr728=) n.2388C= n.2314C= n.2543C= n.2291C= n.2217C= | |
12 | g.48145123C>G | CA384555923 | PFKM | c.2307C>G (p.Tyr769Ter) c.2298C>G (p.Tyr766Ter) c.2085C>G (p.Tyr695Ter) c.1827C>G (p.Tyr609Ter) c.2394C>G (p.Tyr798Ter) n.2409C>G c.*2353C>G (n.*2353C>G) c.1992C>G (p.Tyr664Ter) c.2301C>G (p.Tyr767Ter) c.2229C>G (p.Tyr743Ter) c.2109C>G (p.Tyr703Ter) c.1998C>G (p.Tyr666Ter) c.1959C>G (p.Tyr653Ter) c.1935C>G (p.Tyr645Ter) n.2522C>G n.3158C>G n.2448C>G n.2677C>G n.2425C>G n.2351C>G c.2205C>G (p.Tyr735Ter) c.2184C>G (p.Tyr728Ter) n.2388C>G n.2314C>G n.2543C>G n.2291C>G n.2217C>G | |
12 | g.48145123C>T | CA6537523 | PFKM | c.2307C>T (p.Tyr769=) c.2298C>T (p.Tyr766=) c.2085C>T (p.Tyr695=) c.1827C>T (p.Tyr609=) c.2394C>T (p.Tyr798=) n.2409C>T c.*2353C>T (n.*2353C>T) c.1992C>T (p.Tyr664=) c.2301C>T (p.Tyr767=) c.2229C>T (p.Tyr743=) c.2109C>T (p.Tyr703=) c.1998C>T (p.Tyr666=) c.1959C>T (p.Tyr653=) c.1935C>T (p.Tyr645=) n.2522C>T n.3158C>T n.2448C>T n.2677C>T n.2425C>T n.2351C>T c.2205C>T (p.Tyr735=) c.2184C>T (p.Tyr728=) n.2388C>T n.2314C>T n.2543C>T n.2291C>T n.2217C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48145124C>A | CA384555924 | PFKM | c.2308C>A (p.Arg770Ser) c.2299C>A (p.Arg767Ser) c.2086C>A (p.Arg696Ser) c.1828C>A (p.Arg610Ser) c.2395C>A (p.Arg799Ser) n.2410C>A c.*2354C>A (n.*2354C>A) c.1993C>A (p.Arg665Ser) c.2302C>A (p.Arg768Ser) c.2230C>A (p.Arg744Ser) c.2110C>A (p.Arg704Ser) c.1999C>A (p.Arg667Ser) c.1960C>A (p.Arg654Ser) c.1936C>A (p.Arg646Ser) n.2523C>A n.3159C>A n.2449C>A n.2678C>A n.2426C>A n.2352C>A c.2206C>A (p.Arg736Ser) c.2185C>A (p.Arg729Ser) n.2389C>A n.2315C>A n.2544C>A n.2292C>A n.2218C>A | gnomAD v4 |
12 | g.48145124C= | CA2034545037 | PFKM | c.2308C= (p.Arg770=) c.2299C= (p.Arg767=) c.2086C= (p.Arg696=) c.1828C= (p.Arg610=) c.2395C= (p.Arg799=) n.2410C= c.*2354C= (n.*2354C=) c.1993C= (p.Arg665=) c.2302C= (p.Arg768=) c.2230C= (p.Arg744=) c.2110C= (p.Arg704=) c.1999C= (p.Arg667=) c.1960C= (p.Arg654=) c.1936C= (p.Arg646=) n.2523C= n.3159C= n.2449C= n.2678C= n.2426C= n.2352C= c.2206C= (p.Arg736=) c.2185C= (p.Arg729=) n.2389C= n.2315C= n.2544C= n.2292C= n.2218C= | |
12 | g.48145124C>G | CA6537524 | PFKM | c.2308C>G (p.Arg770Gly) c.2299C>G (p.Arg767Gly) c.2086C>G (p.Arg696Gly) c.1828C>G (p.Arg610Gly) c.2395C>G (p.Arg799Gly) n.2410C>G c.*2354C>G (n.*2354C>G) c.1993C>G (p.Arg665Gly) c.2302C>G (p.Arg768Gly) c.2230C>G (p.Arg744Gly) c.2110C>G (p.Arg704Gly) c.1999C>G (p.Arg667Gly) c.1960C>G (p.Arg654Gly) c.1936C>G (p.Arg646Gly) n.2523C>G n.3159C>G n.2449C>G n.2678C>G n.2426C>G n.2352C>G c.2206C>G (p.Arg736Gly) c.2185C>G (p.Arg729Gly) n.2389C>G n.2315C>G n.2544C>G n.2292C>G n.2218C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.48145124C>T | CA6537525 | PFKM | c.2308C>T (p.Arg770Cys) c.2299C>T (p.Arg767Cys) c.2086C>T (p.Arg696Cys) c.1828C>T (p.Arg610Cys) c.2395C>T (p.Arg799Cys) n.2410C>T c.*2354C>T (n.*2354C>T) c.1993C>T (p.Arg665Cys) c.2302C>T (p.Arg768Cys) c.2230C>T (p.Arg744Cys) c.2110C>T (p.Arg704Cys) c.1999C>T (p.Arg667Cys) c.1960C>T (p.Arg654Cys) c.1936C>T (p.Arg646Cys) n.2523C>T n.3159C>T n.2449C>T n.2678C>T n.2426C>T n.2352C>T c.2206C>T (p.Arg736Cys) c.2185C>T (p.Arg729Cys) n.2389C>T n.2315C>T n.2544C>T n.2292C>T n.2218C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.48145125G>A | CA6537526 | PFKM | c.2309G>A (p.Arg770His) c.2300G>A (p.Arg767His) c.2087G>A (p.Arg696His) c.1829G>A (p.Arg610His) c.2396G>A (p.Arg799His) n.2411G>A c.*2355G>A (n.*2355G>A) c.1994G>A (p.Arg665His) c.2303G>A (p.Arg768His) c.2231G>A (p.Arg744His) c.2111G>A (p.Arg704His) c.2000G>A (p.Arg667His) c.1961G>A (p.Arg654His) c.1937G>A (p.Arg646His) n.2524G>A n.3160G>A n.2450G>A n.2679G>A n.2427G>A n.2353G>A c.2207G>A (p.Arg736His) c.2186G>A (p.Arg729His) n.2390G>A n.2316G>A n.2545G>A n.2293G>A n.2219G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48145125G>C | CA384555925 | PFKM | c.2309G>C (p.Arg770Pro) c.2300G>C (p.Arg767Pro) c.2087G>C (p.Arg696Pro) c.1829G>C (p.Arg610Pro) c.2396G>C (p.Arg799Pro) n.2411G>C c.*2355G>C (n.*2355G>C) c.1994G>C (p.Arg665Pro) c.2303G>C (p.Arg768Pro) c.2231G>C (p.Arg744Pro) c.2111G>C (p.Arg704Pro) c.2000G>C (p.Arg667Pro) c.1961G>C (p.Arg654Pro) c.1937G>C (p.Arg646Pro) n.2524G>C n.3160G>C n.2450G>C n.2679G>C n.2427G>C n.2353G>C c.2207G>C (p.Arg736Pro) c.2186G>C (p.Arg729Pro) n.2390G>C n.2316G>C n.2545G>C n.2293G>C n.2219G>C | |
12 | g.48145125G= | CA2034545045 | PFKM | c.2309G= (p.Arg770=) c.2300G= (p.Arg767=) c.2087G= (p.Arg696=) c.1829G= (p.Arg610=) c.2396G= (p.Arg799=) n.2411G= c.*2355G= (n.*2355G=) c.1994G= (p.Arg665=) c.2303G= (p.Arg768=) c.2231G= (p.Arg744=) c.2111G= (p.Arg704=) c.2000G= (p.Arg667=) c.1961G= (p.Arg654=) c.1937G= (p.Arg646=) n.2524G= n.3160G= n.2450G= n.2679G= n.2427G= n.2353G= c.2207G= (p.Arg736=) c.2186G= (p.Arg729=) n.2390G= n.2316G= n.2545G= n.2293G= n.2219G= | |
12 | g.48145125G>T | CA384555926 | PFKM | c.2309G>T (p.Arg770Leu) c.2300G>T (p.Arg767Leu) c.2087G>T (p.Arg696Leu) c.1829G>T (p.Arg610Leu) c.2396G>T (p.Arg799Leu) n.2411G>T c.*2355G>T (n.*2355G>T) c.1994G>T (p.Arg665Leu) c.2303G>T (p.Arg768Leu) c.2231G>T (p.Arg744Leu) c.2111G>T (p.Arg704Leu) c.2000G>T (p.Arg667Leu) c.1961G>T (p.Arg654Leu) c.1937G>T (p.Arg646Leu) n.2524G>T n.3160G>T n.2450G>T n.2679G>T n.2427G>T n.2353G>T c.2207G>T (p.Arg736Leu) c.2186G>T (p.Arg729Leu) n.2390G>T n.2316G>T n.2545G>T n.2293G>T n.2219G>T | |
12 | g.48145126T>A | CA479459893 | PFKM | c.2310T>A (p.Arg770=) c.2301T>A (p.Arg767=) c.2088T>A (p.Arg696=) c.1830T>A (p.Arg610=) c.2397T>A (p.Arg799=) n.2412T>A c.*2356T>A (n.*2356T>A) c.1995T>A (p.Arg665=) c.2304T>A (p.Arg768=) c.2232T>A (p.Arg744=) c.2112T>A (p.Arg704=) c.2001T>A (p.Arg667=) c.1962T>A (p.Arg654=) c.1938T>A (p.Arg646=) n.2525T>A n.3161T>A n.2451T>A n.2680T>A n.2428T>A n.2354T>A c.2208T>A (p.Arg736=) c.2187T>A (p.Arg729=) n.2391T>A n.2317T>A n.2546T>A n.2294T>A n.2220T>A | |
12 | g.48145126T>C | CA479459897 | PFKM | c.2310T>C (p.Arg770=) c.2301T>C (p.Arg767=) c.2088T>C (p.Arg696=) c.1830T>C (p.Arg610=) c.2397T>C (p.Arg799=) n.2412T>C c.*2356T>C (n.*2356T>C) c.1995T>C (p.Arg665=) c.2304T>C (p.Arg768=) c.2232T>C (p.Arg744=) c.2112T>C (p.Arg704=) c.2001T>C (p.Arg667=) c.1962T>C (p.Arg654=) c.1938T>C (p.Arg646=) n.2525T>C n.3161T>C n.2451T>C n.2680T>C n.2428T>C n.2354T>C c.2208T>C (p.Arg736=) c.2187T>C (p.Arg729=) n.2391T>C n.2317T>C n.2546T>C n.2294T>C n.2220T>C | |
12 | g.48145126T>G | CA479459898 | PFKM | c.2310T>G (p.Arg770=) c.2301T>G (p.Arg767=) c.2088T>G (p.Arg696=) c.1830T>G (p.Arg610=) c.2397T>G (p.Arg799=) n.2412T>G c.*2356T>G (n.*2356T>G) c.1995T>G (p.Arg665=) c.2304T>G (p.Arg768=) c.2232T>G (p.Arg744=) c.2112T>G (p.Arg704=) c.2001T>G (p.Arg667=) c.1962T>G (p.Arg654=) c.1938T>G (p.Arg646=) n.2525T>G n.3161T>G n.2451T>G n.2680T>G n.2428T>G n.2354T>G c.2208T>G (p.Arg736=) c.2187T>G (p.Arg729=) n.2391T>G n.2317T>G n.2546T>G n.2294T>G n.2220T>G | |
12 | g.48145127A>C | CA384555928 | PFKM | c.2311A>C (p.Asn771His) c.2302A>C (p.Asn768His) c.2089A>C (p.Asn697His) c.1831A>C (p.Asn611His) c.2398A>C (p.Asn800His) n.2413A>C c.*2357A>C (n.*2357A>C) c.1996A>C (p.Asn666His) c.2305A>C (p.Asn769His) c.2233A>C (p.Asn745His) c.2113A>C (p.Asn705His) c.2002A>C (p.Asn668His) c.1963A>C (p.Asn655His) c.1939A>C (p.Asn647His) n.2526A>C n.3162A>C n.2452A>C n.2681A>C n.2429A>C n.2355A>C c.2209A>C (p.Asn737His) c.2188A>C (p.Asn730His) n.2392A>C n.2318A>C n.2547A>C n.2295A>C n.2221A>C | |
12 | g.48145127A>G | CA384555929 | PFKM | c.2311A>G (p.Asn771Asp) c.2302A>G (p.Asn768Asp) c.2089A>G (p.Asn697Asp) c.1831A>G (p.Asn611Asp) c.2398A>G (p.Asn800Asp) n.2413A>G c.*2357A>G (n.*2357A>G) c.1996A>G (p.Asn666Asp) c.2305A>G (p.Asn769Asp) c.2233A>G (p.Asn745Asp) c.2113A>G (p.Asn705Asp) c.2002A>G (p.Asn668Asp) c.1963A>G (p.Asn655Asp) c.1939A>G (p.Asn647Asp) n.2526A>G n.3162A>G n.2452A>G n.2681A>G n.2429A>G n.2355A>G c.2209A>G (p.Asn737Asp) c.2188A>G (p.Asn730Asp) n.2392A>G n.2318A>G n.2547A>G n.2295A>G n.2221A>G | |
12 | g.48145127A>T | CA384555927 | PFKM | c.2311A>T (p.Asn771Tyr) c.2302A>T (p.Asn768Tyr) c.2089A>T (p.Asn697Tyr) c.1831A>T (p.Asn611Tyr) c.2398A>T (p.Asn800Tyr) n.2413A>T c.*2357A>T (n.*2357A>T) c.1996A>T (p.Asn666Tyr) c.2305A>T (p.Asn769Tyr) c.2233A>T (p.Asn745Tyr) c.2113A>T (p.Asn705Tyr) c.2002A>T (p.Asn668Tyr) c.1963A>T (p.Asn655Tyr) c.1939A>T (p.Asn647Tyr) n.2526A>T n.3162A>T n.2452A>T n.2681A>T n.2429A>T n.2355A>T c.2209A>T (p.Asn737Tyr) c.2188A>T (p.Asn730Tyr) n.2392A>T n.2318A>T n.2547A>T n.2295A>T n.2221A>T | |
12 | g.48145128A>C | CA384555930 | PFKM | c.2312A>C (p.Asn771Thr) c.2303A>C (p.Asn768Thr) c.2090A>C (p.Asn697Thr) c.1832A>C (p.Asn611Thr) c.2399A>C (p.Asn800Thr) n.2414A>C c.*2358A>C (n.*2358A>C) c.1997A>C (p.Asn666Thr) c.2306A>C (p.Asn769Thr) c.2234A>C (p.Asn745Thr) c.2114A>C (p.Asn705Thr) c.2003A>C (p.Asn668Thr) c.1964A>C (p.Asn655Thr) c.1940A>C (p.Asn647Thr) n.2527A>C n.3163A>C n.2453A>C n.2682A>C n.2430A>C n.2356A>C c.2210A>C (p.Asn737Thr) c.2189A>C (p.Asn730Thr) n.2393A>C n.2319A>C n.2548A>C n.2296A>C n.2222A>C | |
12 | g.48145128A>G | CA384555931 | PFKM | c.2312A>G (p.Asn771Ser) c.2303A>G (p.Asn768Ser) c.2090A>G (p.Asn697Ser) c.1832A>G (p.Asn611Ser) c.2399A>G (p.Asn800Ser) n.2414A>G c.*2358A>G (n.*2358A>G) c.1997A>G (p.Asn666Ser) c.2306A>G (p.Asn769Ser) c.2234A>G (p.Asn745Ser) c.2114A>G (p.Asn705Ser) c.2003A>G (p.Asn668Ser) c.1964A>G (p.Asn655Ser) c.1940A>G (p.Asn647Ser) n.2527A>G n.3163A>G n.2453A>G n.2682A>G n.2430A>G n.2356A>G c.2210A>G (p.Asn737Ser) c.2189A>G (p.Asn730Ser) n.2393A>G n.2319A>G n.2548A>G n.2296A>G n.2222A>G | |
12 | g.48145128A>T | CA384555932 | PFKM | c.2312A>T (p.Asn771Ile) c.2303A>T (p.Asn768Ile) c.2090A>T (p.Asn697Ile) c.1832A>T (p.Asn611Ile) c.2399A>T (p.Asn800Ile) n.2414A>T c.*2358A>T (n.*2358A>T) c.1997A>T (p.Asn666Ile) c.2306A>T (p.Asn769Ile) c.2234A>T (p.Asn745Ile) c.2114A>T (p.Asn705Ile) c.2003A>T (p.Asn668Ile) c.1964A>T (p.Asn655Ile) c.1940A>T (p.Asn647Ile) n.2527A>T n.3163A>T n.2453A>T n.2682A>T n.2430A>T n.2356A>T c.2210A>T (p.Asn737Ile) c.2189A>T (p.Asn730Ile) n.2393A>T n.2319A>T n.2548A>T n.2296A>T n.2222A>T | |
12 | g.48145129T>A | CA384555933 | PFKM | c.2313T>A (p.Asn771Lys) c.2304T>A (p.Asn768Lys) c.2091T>A (p.Asn697Lys) c.1833T>A (p.Asn611Lys) c.2400T>A (p.Asn800Lys) n.2415T>A c.*2359T>A (n.*2359T>A) c.1998T>A (p.Asn666Lys) c.2307T>A (p.Asn769Lys) c.2235T>A (p.Asn745Lys) c.2115T>A (p.Asn705Lys) c.2004T>A (p.Asn668Lys) c.1965T>A (p.Asn655Lys) c.1941T>A (p.Asn647Lys) n.2528T>A n.3164T>A n.2454T>A n.2683T>A n.2431T>A n.2357T>A c.2211T>A (p.Asn737Lys) c.2190T>A (p.Asn730Lys) n.2394T>A n.2320T>A n.2549T>A n.2297T>A n.2223T>A | |
12 | g.48145129T>C | CA479459908 | PFKM | c.2313T>C (p.Asn771=) c.2304T>C (p.Asn768=) c.2091T>C (p.Asn697=) c.1833T>C (p.Asn611=) c.2400T>C (p.Asn800=) n.2415T>C c.*2359T>C (n.*2359T>C) c.1998T>C (p.Asn666=) c.2307T>C (p.Asn769=) c.2235T>C (p.Asn745=) c.2115T>C (p.Asn705=) c.2004T>C (p.Asn668=) c.1965T>C (p.Asn655=) c.1941T>C (p.Asn647=) n.2528T>C n.3164T>C n.2454T>C n.2683T>C n.2431T>C n.2357T>C c.2211T>C (p.Asn737=) c.2190T>C (p.Asn730=) n.2394T>C n.2320T>C n.2549T>C n.2297T>C n.2223T>C | |
12 | g.48145129T>G | CA384555934 | PFKM | c.2313T>G (p.Asn771Lys) c.2304T>G (p.Asn768Lys) c.2091T>G (p.Asn697Lys) c.1833T>G (p.Asn611Lys) c.2400T>G (p.Asn800Lys) n.2415T>G c.*2359T>G (n.*2359T>G) c.1998T>G (p.Asn666Lys) c.2307T>G (p.Asn769Lys) c.2235T>G (p.Asn745Lys) c.2115T>G (p.Asn705Lys) c.2004T>G (p.Asn668Lys) c.1965T>G (p.Asn655Lys) c.1941T>G (p.Asn647Lys) n.2528T>G n.3164T>G n.2454T>G n.2683T>G n.2431T>G n.2357T>G c.2211T>G (p.Asn737Lys) c.2190T>G (p.Asn730Lys) n.2394T>G n.2320T>G n.2549T>G n.2297T>G n.2223T>G | |
12 | g.48145130G>A | CA384555937 | PFKM | c.2314G>A (p.Gly772Arg) c.2305G>A (p.Gly769Arg) c.2092G>A (p.Gly698Arg) c.1834G>A (p.Gly612Arg) c.2401G>A (p.Gly801Arg) n.2416G>A c.*2360G>A (n.*2360G>A) c.1999G>A (p.Gly667Arg) c.2308G>A (p.Gly770Arg) c.2236G>A (p.Gly746Arg) c.2116G>A (p.Gly706Arg) c.2005G>A (p.Gly669Arg) c.1966G>A (p.Gly656Arg) c.1942G>A (p.Gly648Arg) n.2529G>A n.3165G>A n.2455G>A n.2684G>A n.2432G>A n.2358G>A c.2212G>A (p.Gly738Arg) c.2191G>A (p.Gly731Arg) n.2395G>A n.2321G>A n.2550G>A n.2298G>A n.2224G>A | |
12 | g.48145130G>C | CA384555935 | PFKM | c.2314G>C (p.Gly772Arg) c.2305G>C (p.Gly769Arg) c.2092G>C (p.Gly698Arg) c.1834G>C (p.Gly612Arg) c.2401G>C (p.Gly801Arg) n.2416G>C c.*2360G>C (n.*2360G>C) c.1999G>C (p.Gly667Arg) c.2308G>C (p.Gly770Arg) c.2236G>C (p.Gly746Arg) c.2116G>C (p.Gly706Arg) c.2005G>C (p.Gly669Arg) c.1966G>C (p.Gly656Arg) c.1942G>C (p.Gly648Arg) n.2529G>C n.3165G>C n.2455G>C n.2684G>C n.2432G>C n.2358G>C c.2212G>C (p.Gly738Arg) c.2191G>C (p.Gly731Arg) n.2395G>C n.2321G>C n.2550G>C n.2298G>C n.2224G>C | |
12 | g.48145130G>T | CA384555936 | PFKM | c.2314G>T (p.Gly772Trp) c.2305G>T (p.Gly769Trp) c.2092G>T (p.Gly698Trp) c.1834G>T (p.Gly612Trp) c.2401G>T (p.Gly801Trp) n.2416G>T c.*2360G>T (n.*2360G>T) c.1999G>T (p.Gly667Trp) c.2308G>T (p.Gly770Trp) c.2236G>T (p.Gly746Trp) c.2116G>T (p.Gly706Trp) c.2005G>T (p.Gly669Trp) c.1966G>T (p.Gly656Trp) c.1942G>T (p.Gly648Trp) n.2529G>T n.3165G>T n.2455G>T n.2684G>T n.2432G>T n.2358G>T c.2212G>T (p.Gly738Trp) c.2191G>T (p.Gly731Trp) n.2395G>T n.2321G>T n.2550G>T n.2298G>T n.2224G>T | |
12 | g.48145132_48145210del | CA2618528686 | PFKM | c.2314+2_2315del c.2305+2_2306del c.2092+2_2093del c.1834+2_1835del c.2401+2_2402del n.2416+2_2417del c.*2360+2_*2361del c.1999+2_2000del c.2308+2_2309del c.2236+2_2237del c.2116+2_2117del c.2005+2_2006del c.1966+2_1967del c.1942+2_1943del n.2529+2_2530del n.3165+2_3166del n.2455+2_2456del n.2684+2_2685del n.2432+2_2433del n.2358+2_2359del c.2212+2_2213del c.2191+2_2192del n.2395+2_2396del n.2321+2_2322del n.2550+2_2551del n.2298+2_2299del n.2224+2_2225del | gnomAD v4 |
12 | g.48145131G>A | CA384555938 | PFKM | c.2314+1G>A (n.2314+1G>A) c.2305+1G>A (n.2305+1G>A) c.2092+1G>A (n.2092+1G>A) c.1834+1G>A (n.1834+1G>A) c.2401+1G>A (n.2401+1G>A) n.2416+1G>A c.*2360+1G>A (n.*2360+1G>A) c.1999+1G>A (n.1999+1G>A) c.2308+1G>A (n.2308+1G>A) c.2236+1G>A (n.2236+1G>A) c.2116+1G>A (n.2116+1G>A) c.2005+1G>A (n.2005+1G>A) c.1966+1G>A (n.1966+1G>A) c.1942+1G>A (n.1942+1G>A) n.2529+1G>A n.3165+1G>A n.2455+1G>A n.2684+1G>A n.2432+1G>A n.2358+1G>A c.2212+1G>A (n.2212+1G>A) c.2191+1G>A (n.2191+1G>A) n.2395+1G>A n.2321+1G>A n.2550+1G>A n.2298+1G>A n.2224+1G>A | |
12 | g.48145131G>C | CA384555939 | PFKM | c.2314+1G>C (n.2314+1G>C) c.2305+1G>C (n.2305+1G>C) c.2092+1G>C (n.2092+1G>C) c.1834+1G>C (n.1834+1G>C) c.2401+1G>C (n.2401+1G>C) n.2416+1G>C c.*2360+1G>C (n.*2360+1G>C) c.1999+1G>C (n.1999+1G>C) c.2308+1G>C (n.2308+1G>C) c.2236+1G>C (n.2236+1G>C) c.2116+1G>C (n.2116+1G>C) c.2005+1G>C (n.2005+1G>C) c.1966+1G>C (n.1966+1G>C) c.1942+1G>C (n.1942+1G>C) n.2529+1G>C n.3165+1G>C n.2455+1G>C n.2684+1G>C n.2432+1G>C n.2358+1G>C c.2212+1G>C (n.2212+1G>C) c.2191+1G>C (n.2191+1G>C) n.2395+1G>C n.2321+1G>C n.2550+1G>C n.2298+1G>C n.2224+1G>C | |
12 | g.48145131G>T | CA384555940 | PFKM | c.2314+1G>T (n.2314+1G>T) c.2305+1G>T (n.2305+1G>T) c.2092+1G>T (n.2092+1G>T) c.1834+1G>T (n.1834+1G>T) c.2401+1G>T (n.2401+1G>T) n.2416+1G>T c.*2360+1G>T (n.*2360+1G>T) c.1999+1G>T (n.1999+1G>T) c.2308+1G>T (n.2308+1G>T) c.2236+1G>T (n.2236+1G>T) c.2116+1G>T (n.2116+1G>T) c.2005+1G>T (n.2005+1G>T) c.1966+1G>T (n.1966+1G>T) c.1942+1G>T (n.1942+1G>T) n.2529+1G>T n.3165+1G>T n.2455+1G>T n.2684+1G>T n.2432+1G>T n.2358+1G>T c.2212+1G>T (n.2212+1G>T) c.2191+1G>T (n.2191+1G>T) n.2395+1G>T n.2321+1G>T n.2550+1G>T n.2298+1G>T n.2224+1G>T | |
12 | g.48145132T>A | CA384555941 | PFKM | c.2314+2T>A (n.2314+2T>A) c.2305+2T>A (n.2305+2T>A) c.2092+2T>A (n.2092+2T>A) c.1834+2T>A (n.1834+2T>A) c.2401+2T>A (n.2401+2T>A) n.2416+2T>A c.*2360+2T>A (n.*2360+2T>A) c.1999+2T>A (n.1999+2T>A) c.2308+2T>A (n.2308+2T>A) c.2236+2T>A (n.2236+2T>A) c.2116+2T>A (n.2116+2T>A) c.2005+2T>A (n.2005+2T>A) c.1966+2T>A (n.1966+2T>A) c.1942+2T>A (n.1942+2T>A) n.2529+2T>A n.3165+2T>A n.2455+2T>A n.2684+2T>A n.2432+2T>A n.2358+2T>A c.2212+2T>A (n.2212+2T>A) c.2191+2T>A (n.2191+2T>A) n.2395+2T>A n.2321+2T>A n.2550+2T>A n.2298+2T>A n.2224+2T>A | |
12 | g.48145132T>C | CA384555942 | PFKM | c.2314+2T>C (n.2314+2T>C) c.2305+2T>C (n.2305+2T>C) c.2092+2T>C (n.2092+2T>C) c.1834+2T>C (n.1834+2T>C) c.2401+2T>C (n.2401+2T>C) n.2416+2T>C c.*2360+2T>C (n.*2360+2T>C) c.1999+2T>C (n.1999+2T>C) c.2308+2T>C (n.2308+2T>C) c.2236+2T>C (n.2236+2T>C) c.2116+2T>C (n.2116+2T>C) c.2005+2T>C (n.2005+2T>C) c.1966+2T>C (n.1966+2T>C) c.1942+2T>C (n.1942+2T>C) n.2529+2T>C n.3165+2T>C n.2455+2T>C n.2684+2T>C n.2432+2T>C n.2358+2T>C c.2212+2T>C (n.2212+2T>C) c.2191+2T>C (n.2191+2T>C) n.2395+2T>C n.2321+2T>C n.2550+2T>C n.2298+2T>C n.2224+2T>C | ClinVar |
12 | g.48145132T>G | CA384555943 | PFKM | c.2314+2T>G (n.2314+2T>G) c.2305+2T>G (n.2305+2T>G) c.2092+2T>G (n.2092+2T>G) c.1834+2T>G (n.1834+2T>G) c.2401+2T>G (n.2401+2T>G) n.2416+2T>G c.*2360+2T>G (n.*2360+2T>G) c.1999+2T>G (n.1999+2T>G) c.2308+2T>G (n.2308+2T>G) c.2236+2T>G (n.2236+2T>G) c.2116+2T>G (n.2116+2T>G) c.2005+2T>G (n.2005+2T>G) c.1966+2T>G (n.1966+2T>G) c.1942+2T>G (n.1942+2T>G) n.2529+2T>G n.3165+2T>G n.2455+2T>G n.2684+2T>G n.2432+2T>G n.2358+2T>G c.2212+2T>G (n.2212+2T>G) c.2191+2T>G (n.2191+2T>G) n.2395+2T>G n.2321+2T>G n.2550+2T>G n.2298+2T>G n.2224+2T>G | |
12 | g.48145133A= | CA2034545049 | PFKM | c.2314+3A= (n.2314+3A=) c.2305+3A= (n.2305+3A=) c.2092+3A= (n.2092+3A=) c.1834+3A= (n.1834+3A=) c.2401+3A= (n.2401+3A=) n.2416+3A= c.*2360+3A= (n.*2360+3A=) c.1999+3A= (n.1999+3A=) c.2308+3A= (n.2308+3A=) c.2236+3A= (n.2236+3A=) c.2116+3A= (n.2116+3A=) c.2005+3A= (n.2005+3A=) c.1966+3A= (n.1966+3A=) c.1942+3A= (n.1942+3A=) n.2529+3A= n.3165+3A= n.2455+3A= n.2684+3A= n.2432+3A= n.2358+3A= c.2212+3A= (n.2212+3A=) c.2191+3A= (n.2191+3A=) n.2395+3A= n.2321+3A= n.2550+3A= n.2298+3A= n.2224+3A= | |
12 | g.48145133A>G | CA2034545050 | PFKM | c.2314+3A>G (n.2314+3A>G) c.2305+3A>G (n.2305+3A>G) c.2092+3A>G (n.2092+3A>G) c.1834+3A>G (n.1834+3A>G) c.2401+3A>G (n.2401+3A>G) n.2416+3A>G c.*2360+3A>G (n.*2360+3A>G) c.1999+3A>G (n.1999+3A>G) c.2308+3A>G (n.2308+3A>G) c.2236+3A>G (n.2236+3A>G) c.2116+3A>G (n.2116+3A>G) c.2005+3A>G (n.2005+3A>G) c.1966+3A>G (n.1966+3A>G) c.1942+3A>G (n.1942+3A>G) n.2529+3A>G n.3165+3A>G n.2455+3A>G n.2684+3A>G n.2432+3A>G n.2358+3A>G c.2212+3A>G (n.2212+3A>G) c.2191+3A>G (n.2191+3A>G) n.2395+3A>G n.2321+3A>G n.2550+3A>G n.2298+3A>G n.2224+3A>G | dbSNP |