Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.48145030G>ACA384555675PFKMc.2215-1G>A (n.2215-1G>A)
c.2206-1G>A (n.2206-1G>A)
c.1993-1G>A (n.1993-1G>A)
c.1735-1G>A (n.1735-1G>A)
c.2302-1G>A (n.2302-1G>A)
n.2317-1G>A
c.*2261-1G>A (n.*2261-1G>A)
c.1900-1G>A (n.1900-1G>A)
c.269-1G>A
c.2209-1G>A (n.2209-1G>A)
c.2137-1G>A (n.2137-1G>A)
c.2017-1G>A (n.2017-1G>A)
c.1906-1G>A (n.1906-1G>A)
c.1867-1G>A (n.1867-1G>A)
c.1843-1G>A (n.1843-1G>A)
n.2430-1G>A
n.3066-1G>A
n.2356-1G>A
n.2585-1G>A
n.2333-1G>A
n.2259-1G>A
c.2113-1G>A (n.2113-1G>A)
c.2092-1G>A (n.2092-1G>A)
n.2296-1G>A
n.2222-1G>A
n.2451-1G>A
n.2199-1G>A
n.2125-1G>A
12g.48145030G>CCA384555676PFKMc.2215-1G>C (n.2215-1G>C)
c.2206-1G>C (n.2206-1G>C)
c.1993-1G>C (n.1993-1G>C)
c.1735-1G>C (n.1735-1G>C)
c.2302-1G>C (n.2302-1G>C)
n.2317-1G>C
c.*2261-1G>C (n.*2261-1G>C)
c.1900-1G>C (n.1900-1G>C)
c.269-1G>C
c.2209-1G>C (n.2209-1G>C)
c.2137-1G>C (n.2137-1G>C)
c.2017-1G>C (n.2017-1G>C)
c.1906-1G>C (n.1906-1G>C)
c.1867-1G>C (n.1867-1G>C)
c.1843-1G>C (n.1843-1G>C)
n.2430-1G>C
n.3066-1G>C
n.2356-1G>C
n.2585-1G>C
n.2333-1G>C
n.2259-1G>C
c.2113-1G>C (n.2113-1G>C)
c.2092-1G>C (n.2092-1G>C)
n.2296-1G>C
n.2222-1G>C
n.2451-1G>C
n.2199-1G>C
n.2125-1G>C
12g.48145030G>TCA384555679PFKMc.2215-1G>T (n.2215-1G>T)
c.2206-1G>T (n.2206-1G>T)
c.1993-1G>T (n.1993-1G>T)
c.1735-1G>T (n.1735-1G>T)
c.2302-1G>T (n.2302-1G>T)
n.2317-1G>T
c.*2261-1G>T (n.*2261-1G>T)
c.1900-1G>T (n.1900-1G>T)
c.269-1G>T
c.2209-1G>T (n.2209-1G>T)
c.2137-1G>T (n.2137-1G>T)
c.2017-1G>T (n.2017-1G>T)
c.1906-1G>T (n.1906-1G>T)
c.1867-1G>T (n.1867-1G>T)
c.1843-1G>T (n.1843-1G>T)
n.2430-1G>T
n.3066-1G>T
n.2356-1G>T
n.2585-1G>T
n.2333-1G>T
n.2259-1G>T
c.2113-1G>T (n.2113-1G>T)
c.2092-1G>T (n.2092-1G>T)
n.2296-1G>T
n.2222-1G>T
n.2451-1G>T
n.2199-1G>T
n.2125-1G>T
12g.48145031G>ACA384555682PFKMc.2215G>A (p.Gly739Ser)
c.2206G>A (p.Gly736Ser)
c.1993G>A (p.Gly665Ser)
c.1735G>A (p.Gly579Ser)
c.2302G>A (p.Gly768Ser)
n.2317G>A
c.*2261G>A (n.*2261G>A)
c.1900G>A (p.Gly634Ser)
c.269G>A
c.2209G>A (p.Gly737Ser)
c.2137G>A (p.Gly713Ser)
c.2017G>A (p.Gly673Ser)
c.1906G>A (p.Gly636Ser)
c.1867G>A (p.Gly623Ser)
c.1843G>A (p.Gly615Ser)
n.2430G>A
n.3066G>A
n.2356G>A
n.2585G>A
n.2333G>A
n.2259G>A
c.2113G>A (p.Gly705Ser)
c.2092G>A (p.Gly698Ser)
n.2296G>A
n.2222G>A
n.2451G>A
n.2199G>A
n.2125G>A
12g.48145031G>CCA384555684PFKMc.2215G>C (p.Gly739Arg)
c.2206G>C (p.Gly736Arg)
c.1993G>C (p.Gly665Arg)
c.1735G>C (p.Gly579Arg)
c.2302G>C (p.Gly768Arg)
n.2317G>C
c.*2261G>C (n.*2261G>C)
c.1900G>C (p.Gly634Arg)
c.269G>C
c.2209G>C (p.Gly737Arg)
c.2137G>C (p.Gly713Arg)
c.2017G>C (p.Gly673Arg)
c.1906G>C (p.Gly636Arg)
c.1867G>C (p.Gly623Arg)
c.1843G>C (p.Gly615Arg)
n.2430G>C
n.3066G>C
n.2356G>C
n.2585G>C
n.2333G>C
n.2259G>C
c.2113G>C (p.Gly705Arg)
c.2092G>C (p.Gly698Arg)
n.2296G>C
n.2222G>C
n.2451G>C
n.2199G>C
n.2125G>C
12g.48145031G>TCA384555680PFKMc.2215G>T (p.Gly739Cys)
c.2206G>T (p.Gly736Cys)
c.1993G>T (p.Gly665Cys)
c.1735G>T (p.Gly579Cys)
c.2302G>T (p.Gly768Cys)
n.2317G>T
c.*2261G>T (n.*2261G>T)
c.1900G>T (p.Gly634Cys)
c.269G>T
c.2209G>T (p.Gly737Cys)
c.2137G>T (p.Gly713Cys)
c.2017G>T (p.Gly673Cys)
c.1906G>T (p.Gly636Cys)
c.1867G>T (p.Gly623Cys)
c.1843G>T (p.Gly615Cys)
n.2430G>T
n.3066G>T
n.2356G>T
n.2585G>T
n.2333G>T
n.2259G>T
c.2113G>T (p.Gly705Cys)
c.2092G>T (p.Gly698Cys)
n.2296G>T
n.2222G>T
n.2451G>T
n.2199G>T
n.2125G>T
12g.48145032G>ACA384555686PFKMc.2216G>A (p.Gly739Asp)
c.2207G>A (p.Gly736Asp)
c.1994G>A (p.Gly665Asp)
c.1736G>A (p.Gly579Asp)
c.2303G>A (p.Gly768Asp)
n.2318G>A
c.*2262G>A (n.*2262G>A)
c.1901G>A (p.Gly634Asp)
c.270G>A
c.2210G>A (p.Gly737Asp)
c.2138G>A (p.Gly713Asp)
c.2018G>A (p.Gly673Asp)
c.1907G>A (p.Gly636Asp)
c.1868G>A (p.Gly623Asp)
c.1844G>A (p.Gly615Asp)
n.2431G>A
n.3067G>A
n.2357G>A
n.2586G>A
n.2334G>A
n.2260G>A
c.2114G>A (p.Gly705Asp)
c.2093G>A (p.Gly698Asp)
n.2297G>A
n.2223G>A
n.2452G>A
n.2200G>A
n.2126G>A
12g.48145032G>CCA384555689PFKMc.2216G>C (p.Gly739Ala)
c.2207G>C (p.Gly736Ala)
c.1994G>C (p.Gly665Ala)
c.1736G>C (p.Gly579Ala)
c.2303G>C (p.Gly768Ala)
n.2318G>C
c.*2262G>C (n.*2262G>C)
c.1901G>C (p.Gly634Ala)
c.270G>C
c.2210G>C (p.Gly737Ala)
c.2138G>C (p.Gly713Ala)
c.2018G>C (p.Gly673Ala)
c.1907G>C (p.Gly636Ala)
c.1868G>C (p.Gly623Ala)
c.1844G>C (p.Gly615Ala)
n.2431G>C
n.3067G>C
n.2357G>C
n.2586G>C
n.2334G>C
n.2260G>C
c.2114G>C (p.Gly705Ala)
c.2093G>C (p.Gly698Ala)
n.2297G>C
n.2223G>C
n.2452G>C
n.2200G>C
n.2126G>C
12g.48145032G>TCA384555691PFKMc.2216G>T (p.Gly739Val)
c.2207G>T (p.Gly736Val)
c.1994G>T (p.Gly665Val)
c.1736G>T (p.Gly579Val)
c.2303G>T (p.Gly768Val)
n.2318G>T
c.*2262G>T (n.*2262G>T)
c.1901G>T (p.Gly634Val)
c.270G>T
c.2210G>T (p.Gly737Val)
c.2138G>T (p.Gly713Val)
c.2018G>T (p.Gly673Val)
c.1907G>T (p.Gly636Val)
c.1868G>T (p.Gly623Val)
c.1844G>T (p.Gly615Val)
n.2431G>T
n.3067G>T
n.2357G>T
n.2586G>T
n.2334G>T
n.2260G>T
c.2114G>T (p.Gly705Val)
c.2093G>T (p.Gly698Val)
n.2297G>T
n.2223G>T
n.2452G>T
n.2200G>T
n.2126G>T
12g.48145033T>ACA479459515PFKMc.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
12g.48145033T>CCA236519702PFKMc.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
12g.48145033T>GCA479459513PFKMc.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
12g.48145033T=CA2034544873PFKMc.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=
12g.48145034G>ACA384555695PFKMc.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
12g.48145034G>CCA384555697PFKMc.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
12g.48145034G>TCA384555699PFKMc.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
12g.48145035G>ACA384555701PFKMc.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
12g.48145035G>CCA384555703PFKMc.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
12g.48145035G>TCA384555705PFKMc.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
12g.48145036G>ACA479459533PFKMc.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
12g.48145036G>CCA479459535PFKMc.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
12g.48145036G>TCA479459538PFKMc.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
12g.48145037A>CCA384555707PFKMc.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
12g.48145037A>GCA384555709PFKMc.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
12g.48145037A>TCA384555711PFKMc.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
12g.48145038G>ACA384555716PFKMc.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
12g.48145038G>CCA384555715PFKMc.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
12g.48145038G=CA2034544877PFKMc.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=
12g.48145038G>TCA384555713PFKMc.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
12g.48145038_48145039delinsGCCA2034544876PFKMc.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
12g.48145039C>ACA384555720PFKMc.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
12g.48145039C=CA2034544891PFKMc.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=
12g.48145039C>GCA384555722PFKMc.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
12g.48145039C>TCA236519703PFKMc.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
12g.48145041delCA6537511PFKMc.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
12g.48145040C>ACA384555728PFKMc.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
12g.48145040C=CA2034544892PFKMc.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=
12g.48145040C>GCA384555730PFKMc.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
12g.48145040C>TCA384555731PFKMc.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
12g.48145041C>ACA384555732PFKMc.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
12g.48145041C>GCA384555733PFKMc.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
12g.48145041C>TCA384555734PFKMc.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
12g.48145042A>CCA479459566PFKMc.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
12g.48145042A>GCA479459569PFKMc.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
12g.48145042A>TCA479459571PFKMc.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
12g.48145043A>CCA384555735PFKMc.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
12g.48145043A>GCA384555736PFKMc.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
12g.48145043A>TCA384555737PFKMc.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
12g.48145044C>ACA384555739PFKMc.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
12g.48145044C>GCA384555740PFKMc.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
12g.48145044C>TCA384555738PFKMc.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
12g.48145045C>ACA6537512PFKMc.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
12g.48145045C=CA2034544893PFKMc.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=
12g.48145045C>GCA479459580PFKMc.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
12g.48145045C>TCA479459582PFKMc.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
12g.48145046C>ACA384555741PFKMc.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
12g.48145046C=CA2034544896PFKMc.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=
12g.48145046C>GCA384555742PFKMc.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
12g.48145046C>TCA384555743PFKMc.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
12g.48145047C>ACA384555744PFKMc.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
12g.48145047C>GCA384555745PFKMc.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
12g.48145047C>TCA384555746PFKMc.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
12g.48145048A>CCA479459593PFKMc.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
12g.48145048A>GCA479459595PFKMc.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
12g.48145048A>TCA479459597PFKMc.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
12g.48145049T>ACA384555747PFKMc.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
12g.48145049T>CCA384555748PFKMc.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
12g.48145049T>GCA384555749PFKMc.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
12g.48145050T>ACA384555750PFKMc.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
12g.48145050T>CCA384555751PFKMc.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
12g.48145050T>GCA384555752PFKMc.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
12g.48145051T>ACA384555754PFKMc.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
12g.48145051T>CCA479459610PFKMc.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
12g.48145051T>GCA384555753PFKMc.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
12g.48145052G>ACA384555755PFKMc.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
12g.48145052G>CCA384555756PFKMc.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
12g.48145052G=CA2034544897PFKMc.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=
12g.48145052G>TCA384555757PFKMc.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
12g.48145053A=CA2034544898PFKMc.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=
12g.48145053A>CCA384555758PFKMc.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
12g.48145053A>GCA384555759PFKMc.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
12g.48145053A>TCA384555760PFKMc.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
12g.48145054T>ACA384555761PFKMc.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
12g.48145054T>CCA479459635PFKMc.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
12g.48145054T>GCA384555762PFKMc.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
12g.48145055A>CCA479459638PFKMc.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
12g.48145055A>GCA384555763PFKMc.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
12g.48145055A>TCA384555764PFKMc.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
12g.48145056G>ACA384555765PFKMc.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
12g.48145056G>CCA384555766PFKMc.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
12g.48145056G>TCA384555767PFKMc.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
12g.48145057G>ACA479459642PFKMc.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
12g.48145057G>CCA384555769PFKMc.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
12g.48145057G=CA2034544899PFKMc.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=
12g.48145057G>TCA384555768PFKMc.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
12g.48145058A>CCA384555770PFKMc.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
12g.48145058A>GCA384555772PFKMc.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
12g.48145058A>TCA384555771PFKMc.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
12g.48145059A>CCA384555773PFKMc.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
12g.48145059A>GCA384555775PFKMc.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
12g.48145059A>TCA384555774PFKMc.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
12g.48145060T>ACA384555776PFKMc.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
12g.48145060T>CCA479459651PFKMc.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
12g.48145060T>GCA384555777PFKMc.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
12g.48145061T>ACA384555778PFKMc.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
12g.48145061T>CCA384555779PFKMc.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
12g.48145061T>GCA384555780PFKMc.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
12g.48145062T>ACA384555781PFKMc.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
12g.48145062T>CCA384555782PFKMc.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
12g.48145062T>GCA384555783PFKMc.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
12g.48145063T>ACA384555784PFKMc.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
12g.48145063T>CCA479459664PFKMc.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
12g.48145063T>GCA384555785PFKMc.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
12g.48145064G>ACA384555786PFKMc.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
12g.48145064G>CCA384555787PFKMc.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
12g.48145064G=CA2034544901PFKMc.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=
12g.48145064G>TCA384555788PFKMc.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
12g.48145065C>ACA384555791PFKMc.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
12g.48145065C>GCA384555790PFKMc.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
12g.48145065C>TCA384555789PFKMc.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
12g.48145066C>ACA479459685PFKMc.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
12g.48145066C=CA2034544904PFKMc.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=
12g.48145066C>GCA479459679PFKMc.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
12g.48145066C>TCA479459682PFKMc.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
12g.48145067A=CA2034544905PFKMc.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=
12g.48145067A>CCA384555792PFKMc.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
12g.48145067A>GCA6537513PFKMc.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
12g.48145067A>TCA384555793PFKMc.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
12g.48145068C>ACA384555794PFKMc.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
12g.48145068C=CA2034544909PFKMc.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=
12g.48145068C>GCA384555795PFKMc.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
12g.48145068C>TCA384555796PFKMc.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
12g.48145069T>ACA479459694PFKMc.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
12g.48145069T>CCA479459697PFKMc.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
12g.48145069T>GCA479459698PFKMc.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
12g.48145070A>CCA384555797PFKMc.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
12g.48145070A>GCA384555798PFKMc.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
12g.48145070A>TCA384555799PFKMc.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
12g.48145071A>CCA384555800PFKMc.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
12g.48145071A>GCA384555801PFKMc.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
12g.48145071A>TCA384555802PFKMc.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
12g.48145072G>ACA479459703PFKMc.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
12g.48145072G>CCA384555804PFKMc.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
12g.48145072G=CA2034544911PFKMc.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=
12g.48145072G>TCA384555803PFKMc.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
12g.48145073A>CCA384555805PFKMc.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
12g.48145073A>GCA384555806PFKMc.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
12g.48145073A>TCA384555807PFKMc.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
12g.48145074T>ACA384555808PFKMc.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
12g.48145074T>CCA384555809PFKMc.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
12g.48145074T>GCA384555810PFKMc.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
12g.48145075G>ACA384555811PFKMc.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
12g.48145075G>CCA384555812PFKMc.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
12g.48145075G=CA2034544913PFKMc.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=
12g.48145075G>TCA6537514PFKMc.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
12g.48145076G>ACA384555813PFKMc.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
12g.48145076G>CCA384555814PFKMc.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
12g.48145076G=CA2034544915PFKMc.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=
12g.48145076G>TCA6537515PFKMc.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
12g.48145077G>ACA384555817PFKMc.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
12g.48145077G>CCA384555816PFKMc.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
12g.48145077G>TCA384555815PFKMc.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
12g.48145078C>ACA479459722PFKMc.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
12g.48145078C=CA2034544921PFKMc.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=
12g.48145078C>GCA479459724PFKMc.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
12g.48145078C>TCA6537516PFKMc.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
12g.48145079G>ACA6537517PFKMc.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
12g.48145079G>CCA384555818PFKMc.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
12g.48145079G=CA2034544927PFKMc.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=
12g.48145079G>TCA384555819PFKMc.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
12g.48145080C>ACA384555820PFKMc.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
12g.48145080C=CA2034544933PFKMc.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=
12g.48145080C>GCA6537518PFKMc.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
12g.48145080C>TCA6537519PFKMc.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
12g.48145081C>ACA479459734PFKMc.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
12g.48145081C>GCA479459736PFKMc.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
12g.48145081C>TCA479459739PFKMc.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
12g.48145082A>CCA384555821PFKMc.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
12g.48145082A>GCA384555822PFKMc.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
12g.48145082A>TCA384555823PFKMc.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
12g.48145083A>CCA384555824PFKMc.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
12g.48145083A>GCA384555825PFKMc.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
12g.48145083A>TCA384555826PFKMc.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
12g.48145085_48145144delCA2697559257PFKMc.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
12g.48145084G>ACA479459748PFKMc.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
12g.48145084G>CCA384555827PFKMc.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
12g.48145084G=CA2034544936PFKMc.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=
12g.48145084G>TCA384555828PFKMc.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
12g.48145085G>ACA384555829PFKMc.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
12g.48145085G>CCA384555830PFKMc.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
12g.48145085G>TCA384555831PFKMc.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
12g.48145086C>ACA384555832PFKMc.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
12g.48145086C>GCA384555833PFKMc.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
12g.48145086C>TCA384555834PFKMc.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
12g.48145087T>ACA479459757PFKMc.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
12g.48145087T>CCA479459760PFKMc.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
12g.48145087T>GCA479459758PFKMc.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
12g.48145087T=CA2034544938PFKMc.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=
12g.48145088A>CCA384555837PFKMc.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
12g.48145088A>GCA384555836PFKMc.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
12g.48145088A>TCA384555835PFKMc.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
12g.48145089T>ACA384555838PFKMc.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
12g.48145089T>CCA384555839PFKMc.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
12g.48145089T>GCA384555840PFKMc.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
12g.48145090G>ACA384555841PFKMc.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
12g.48145090G>CCA384555842PFKMc.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
12g.48145090G=CA2034544943PFKMc.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=
12g.48145090G>TCA384555843PFKMc.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
12g.48145091A=CA2034544947PFKMc.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=
12g.48145091A>CCA384555844PFKMc.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
12g.48145091A>GCA6537520PFKMc.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
12g.48145091A>TCA384555845PFKMc.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
12g.48145092A>CCA384555846PFKMc.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
12g.48145092A>GCA384555847PFKMc.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
12g.48145092A>TCA384555848PFKMc.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
12g.48145093C>ACA384555849PFKMc.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
12g.48145093C>GCA384555850PFKMc.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
12g.48145093C>TCA479459774PFKMc.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
12g.48145094T>ACA384555851PFKMc.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
12g.48145094T>CCA6537521PFKMc.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
12g.48145094T>GCA384555852PFKMc.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
12g.48145094T=CA2034544953PFKMc.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=
12g.48145095G>ACA384555853PFKMc.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
12g.48145095G>CCA384555854PFKMc.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
12g.48145095G>TCA384555855PFKMc.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
12g.48145096G>ACA384555856PFKMc.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
12g.48145096G>CCA384555857PFKMc.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
12g.48145096G=CA2034544962PFKMc.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=
12g.48145096G>TCA114809PFKMc.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
12g.48145097A>CCA384555858PFKMc.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
12g.48145097A>GCA384555859PFKMc.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
12g.48145097A>TCA384555860PFKMc.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
12g.48145098T>ACA384555861PFKMc.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
12g.48145098T>CCA384555862PFKMc.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
12g.48145098T>GCA384555863PFKMc.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
12g.48145098T=CA2034544969PFKMc.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=
12g.48145099G>ACA384555864PFKMc.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
12g.48145099G>CCA384555865PFKMc.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
12g.48145099G=CA2034544975PFKMc.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=
12g.48145099G>TCA384555866PFKMc.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
12g.48145100T>ACA384555867PFKMc.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
12g.48145100T>CCA384555868PFKMc.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
12g.48145100T>GCA384555869PFKMc.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
12g.48145101C>ACA384555872PFKMc.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
12g.48145101C>GCA384555870PFKMc.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
12g.48145101C>TCA384555871PFKMc.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
12g.48145102T>ACA479459796PFKMc.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
12g.48145102T>CCA479459798PFKMc.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
12g.48145102T>GCA479459800PFKMc.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
12g.48145103G>ACA384555873PFKMc.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
12g.48145103G>CCA384555874PFKMc.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
12g.48145103G=CA2034544978PFKMc.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=
12g.48145103G>TCA384555875PFKMc.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
12g.48145104G>ACA384555876PFKMc.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
12g.48145104G>CCA384555877PFKMc.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
12g.48145104G=CA2034544984PFKMc.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=
12g.48145104G>TCA384555878PFKMc.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
12g.48145105G>ACA479459811PFKMc.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
12g.48145105G>CCA479459812PFKMc.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
12g.48145105G>TCA479459813PFKMc.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
12g.48145106A>CCA384555879PFKMc.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
12g.48145106A>GCA384555880PFKMc.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
12g.48145106A>TCA384555881PFKMc.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
12g.48145107A>CCA384555882PFKMc.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
12g.48145107A>GCA384555883PFKMc.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
12g.48145107A>TCA384555884PFKMc.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
12g.48145108A=CA2034544987PFKMc.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=
12g.48145108A>CCA384555886PFKMc.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
12g.48145108A>GCA479459822PFKMc.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
12g.48145108A>TCA384555885PFKMc.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
12g.48145109A>CCA384555887PFKMc.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
12g.48145109A>GCA384555889PFKMc.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
12g.48145109A>TCA384555888PFKMc.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
12g.48145110T>ACA384555890PFKMc.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
12g.48145110T>CCA384555891PFKMc.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
12g.48145110T>GCA6537522PFKMc.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
12g.48145110T=CA2034544994PFKMc.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=
12g.48145111C>ACA479459831PFKMc.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
12g.48145111C=CA2034544998PFKMc.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=
12g.48145111C>GCA384555892PFKMc.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
12g.48145111C>TCA479459834PFKMc.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
12g.48145112A>CCA384555893PFKMc.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
12g.48145112A>GCA384555894PFKMc.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
12g.48145112A>TCA384555895PFKMc.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
12g.48145113_48145114delCA2573148749PFKMc.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
12g.48145113A>CCA384555896PFKMc.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
12g.48145113A>GCA384555897PFKMc.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
12g.48145113A>TCA384555898PFKMc.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
12g.48145113_48145115delinsAAGCA2034545002PFKMc.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
12g.48145114A>CCA384555899PFKMc.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
12g.48145114A>GCA479459843PFKMc.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
12g.48145114A>TCA384555900PFKMc.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
12g.48145116_48145119dupCA915947912PFKMc.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
12g.48145118_48145119delCA604849298PFKMc.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
12g.48145115G>ACA384555901PFKMc.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
12g.48145115G>CCA384555902PFKMc.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
12g.48145115G>TCA384555903PFKMc.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
12g.48145116A>CCA384555904PFKMc.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
12g.48145116A>GCA384555906PFKMc.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
12g.48145116A>TCA384555905PFKMc.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
12g.48145117G>ACA479459855PFKMc.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
12g.48145117G>CCA236519741PFKMc.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
12g.48145117G=CA2034545015PFKMc.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=
12g.48145117G>TCA384555907PFKMc.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
12g.48145118A>CCA384555908PFKMc.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
12g.48145118A>GCA384555909PFKMc.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
12g.48145118A>TCA384555910PFKMc.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
12g.48145119G>ACA384555911PFKMc.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
12g.48145119G>CCA384555912PFKMc.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
12g.48145119G=CA2034545020PFKMc.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=
12g.48145119G>TCA384555913PFKMc.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
12g.48145120T>ACA384555914PFKMc.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
12g.48145120T>CCA479459870PFKMc.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
12g.48145120T>GCA384555915PFKMc.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
12g.48145121T>ACA384555917PFKMc.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
12g.48145121T>CCA384555918PFKMc.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
12g.48145121T>GCA384555916PFKMc.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
12g.48145122A>CCA384555919PFKMc.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
12g.48145122A>GCA384555920PFKMc.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
12g.48145122A>TCA384555921PFKMc.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
12g.48145123C>ACA384555922PFKMc.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
12g.48145123C=CA2034545032PFKMc.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=
12g.48145123C>GCA384555923PFKMc.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
12g.48145123C>TCA6537523PFKMc.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
12g.48145124C>ACA384555924PFKMc.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
12g.48145124C=CA2034545037PFKMc.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=
12g.48145124C>GCA6537524PFKMc.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
12g.48145124C>TCA6537525PFKMc.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
12g.48145125G>ACA6537526PFKMc.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
12g.48145125G>CCA384555925PFKMc.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
12g.48145125G=CA2034545045PFKMc.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=
12g.48145125G>TCA384555926PFKMc.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
12g.48145126T>ACA479459893PFKMc.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
12g.48145126T>CCA479459897PFKMc.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
12g.48145126T>GCA479459898PFKMc.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
12g.48145127A>CCA384555928PFKMc.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
12g.48145127A>GCA384555929PFKMc.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
12g.48145127A>TCA384555927PFKMc.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
12g.48145128A>CCA384555930PFKMc.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
12g.48145128A>GCA384555931PFKMc.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
12g.48145128A>TCA384555932PFKMc.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
12g.48145129T>ACA384555933PFKMc.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
12g.48145129T>CCA479459908PFKMc.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
12g.48145129T>GCA384555934PFKMc.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
12g.48145130G>ACA384555937PFKMc.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
12g.48145130G>CCA384555935PFKMc.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
12g.48145130G>TCA384555936PFKMc.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
12g.48145132_48145210delCA2618528686PFKMc.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

Number of alleles fetched