| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.48145047del | CA2977596509 | PFKM | c.2231del (p.Pro744HisfsTer15) c.2222del (p.Pro741HisfsTer15) c.2009del (p.Pro670HisfsTer15) c.1751del (p.Pro584HisfsTer15) c.2318del (p.Pro773HisfsTer15) n.2333del c.*2277del (n.*2277del) c.1916del (p.Pro639HisfsTer15) c.285del c.2225del (p.Pro742HisfsTer15) c.2153del (p.Pro718HisfsTer15) c.2033del (p.Pro678HisfsTer15) c.1922del (p.Pro641HisfsTer15) c.1883del (p.Pro628HisfsTer15) c.1859del (p.Pro620HisfsTer15) n.2446del n.3082del n.2372del n.2601del n.2349del n.2275del c.2129del (p.Pro710HisfsTer15) c.2108del (p.Pro703HisfsTer15) n.2312del n.2238del n.2467del n.2215del n.2141del | |
| 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 |