| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= | dbSNP |
| 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= | dbSNP |
| 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 | ClinVar 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 | ClinVar dbSNP 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.48145054T= | CA3196800433 | PFKM | c.2238T= (p.Asp746=) c.2229T= (p.Asp743=) c.2016T= (p.Asp672=) c.1758T= (p.Asp586=) c.2325T= (p.Asp775=) n.2340T= c.*2284T= (n.*2284T=) c.1923T= (p.Asp641=) c.2232T= (p.Asp744=) c.2160T= (p.Asp720=) c.2040T= (p.Asp680=) c.1929T= (p.Asp643=) c.1890T= (p.Asp630=) c.1866T= (p.Asp622=) n.2453T= n.3089T= n.2379T= n.2608T= n.2356T= n.2282T= c.2136T= (p.Asp712=) c.2115T= (p.Asp705=) n.2319T= n.2245T= n.2474T= n.2222T= n.2148T= | dbSNP |
| 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= | dbSNP |
| 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 | dbSNP 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.48145061T= | CA3196800481 | PFKM | c.2245T= (p.Phe749=) c.2236T= (p.Phe746=) c.2023T= (p.Phe675=) c.1765T= (p.Phe589=) c.2332T= (p.Phe778=) n.2347T= c.*2291T= (n.*2291T=) c.1930T= (p.Phe644=) c.2239T= (p.Phe747=) c.2167T= (p.Phe723=) c.2047T= (p.Phe683=) c.1936T= (p.Phe646=) c.1897T= (p.Phe633=) c.1873T= (p.Phe625=) n.2460T= n.3096T= n.2386T= n.2615T= n.2363T= n.2289T= c.2143T= (p.Phe715=) c.2122T= (p.Phe708=) n.2326T= n.2252T= n.2481T= n.2229T= n.2155T= | dbSNP |
| 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 |