| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |