Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68157849_68157851delCA2614700398KMT5Bc.2282_2284del (p.Ser761Ter)
n.2847_2849del
c.*2119_*2121del (n.*2119_*2121del)
c.*2162_*2164del (n.*2162_*2164del)
c.1979_1981del (p.Ser660Ter)
c.*1703_*1705del (n.*1703_*1705del)
c.2495_2497del (p.Ser832Ter)
c.1775_1777del (p.Ser592Ter)
c.2426_2428del (p.Ser809Ter)
c.1253_1255del (p.Ser418Ter)
gnomAD v4
11g.68157849_68157852delinsCAGACA1980500025KMT5Bc.2281_2284delinsTCTG (p.Ser761=)
n.2846_2849delinsTCTG
c.*2118_*2121delinsTCTG (n.*2118_*2121delinsTCTG)
c.*2161_*2164delinsTCTG (n.*2161_*2164delinsTCTG)
c.1978_1981delinsTCTG (p.Ser660=)
c.*1702_*1705delinsTCTG (n.*1702_*1705delinsTCTG)
c.2494_2497delinsTCTG (p.Ser832=)
c.1774_1777delinsTCTG (p.Ser592=)
c.2425_2428delinsTCTG (p.Ser809=)
c.1252_1255delinsTCTG (p.Ser418=)
11g.68157853_68157855delCA600238789KMT5Bc.2281_2283del (p.Ser761del)
n.2846_2848del
c.*2118_*2120del (n.*2118_*2120del)
c.*2161_*2163del (n.*2161_*2163del)
c.1978_1980del (p.Ser660del)
c.*1702_*1704del (n.*1702_*1704del)
c.2494_2496del (p.Ser832del)
c.1774_1776del (p.Ser592del)
c.2425_2427del (p.Ser809del)
c.1252_1254del (p.Ser418del)
dbSNP gnomAD v2 gnomAD v4
11g.68157851G>ACA381586699KMT5Bc.2282C>T (p.Ser761Phe)
n.2847C>T
c.*2119C>T (n.*2119C>T)
c.*2162C>T (n.*2162C>T)
c.1979C>T (p.Ser660Phe)
c.*1703C>T (n.*1703C>T)
c.2495C>T (p.Ser832Phe)
c.1775C>T (p.Ser592Phe)
c.2426C>T (p.Ser809Phe)
c.1253C>T (p.Ser418Phe)
dbSNP
11g.68157851G>CCA6148005KMT5Bc.2282C>G (p.Ser761Cys)
n.2847C>G
c.*2119C>G (n.*2119C>G)
c.*2162C>G (n.*2162C>G)
c.1979C>G (p.Ser660Cys)
c.*1703C>G (n.*1703C>G)
c.2495C>G (p.Ser832Cys)
c.1775C>G (p.Ser592Cys)
c.2426C>G (p.Ser809Cys)
c.1253C>G (p.Ser418Cys)
dbSNP ExAC gnomAD v2
11g.68157851G=CA1980500039KMT5Bc.2282C= (p.Ser761=)
n.2847C=
c.*2119C= (n.*2119C=)
c.*2162C= (n.*2162C=)
c.1979C= (p.Ser660=)
c.*1703C= (n.*1703C=)
c.2495C= (p.Ser832=)
c.1775C= (p.Ser592=)
c.2426C= (p.Ser809=)
c.1253C= (p.Ser418=)
11g.68157851G>TCA381586696KMT5Bc.2282C>A (p.Ser761Tyr)
n.2847C>A
c.*2119C>A (n.*2119C>A)
c.*2162C>A (n.*2162C>A)
c.1979C>A (p.Ser660Tyr)
c.*1703C>A (n.*1703C>A)
c.2495C>A (p.Ser832Tyr)
c.1775C>A (p.Ser592Tyr)
c.2426C>A (p.Ser809Tyr)
c.1253C>A (p.Ser418Tyr)
11g.68157852A=CA1980500044KMT5Bc.2281T= (p.Ser761=)
n.2846T=
c.*2118T= (n.*2118T=)
c.*2161T= (n.*2161T=)
c.1978T= (p.Ser660=)
c.*1702T= (n.*1702T=)
c.2494T= (p.Ser832=)
c.1774T= (p.Ser592=)
c.2425T= (p.Ser809=)
c.1252T= (p.Ser418=)
11g.68157852A>CCA381586703KMT5Bc.2281T>G (p.Ser761Ala)
n.2846T>G
c.*2118T>G (n.*2118T>G)
c.*2161T>G (n.*2161T>G)
c.1978T>G (p.Ser660Ala)
c.*1702T>G (n.*1702T>G)
c.2494T>G (p.Ser832Ala)
c.1774T>G (p.Ser592Ala)
c.2425T>G (p.Ser809Ala)
c.1252T>G (p.Ser418Ala)
11g.68157852A>GCA224247861KMT5Bc.2281T>C (p.Ser761Pro)
n.2846T>C
c.*2118T>C (n.*2118T>C)
c.*2161T>C (n.*2161T>C)
c.1978T>C (p.Ser660Pro)
c.*1702T>C (n.*1702T>C)
c.2494T>C (p.Ser832Pro)
c.1774T>C (p.Ser592Pro)
c.2425T>C (p.Ser809Pro)
c.1252T>C (p.Ser418Pro)
dbSNP
11g.68157852A>TCA381586708KMT5Bc.2281T>A (p.Ser761Thr)
n.2846T>A
c.*2118T>A (n.*2118T>A)
c.*2161T>A (n.*2161T>A)
c.1978T>A (p.Ser660Thr)
c.*1702T>A (n.*1702T>A)
c.2494T>A (p.Ser832Thr)
c.1774T>A (p.Ser592Thr)
c.2425T>A (p.Ser809Thr)
c.1252T>A (p.Ser418Thr)
11g.68157853A>CCA475514631KMT5Bc.2280T>G (p.Ser760=)
n.2845T>G
c.*2117T>G (n.*2117T>G)
c.*2160T>G (n.*2160T>G)
c.1977T>G (p.Ser659=)
c.*1701T>G (n.*1701T>G)
c.2493T>G (p.Ser831=)
c.1773T>G (p.Ser591=)
c.2424T>G (p.Ser808=)
c.1251T>G (p.Ser417=)
11g.68157853A>GCA475514632KMT5Bc.2280T>C (p.Ser760=)
n.2845T>C
c.*2117T>C (n.*2117T>C)
c.*2160T>C (n.*2160T>C)
c.1977T>C (p.Ser659=)
c.*1701T>C (n.*1701T>C)
c.2493T>C (p.Ser831=)
c.1773T>C (p.Ser591=)
c.2424T>C (p.Ser808=)
c.1251T>C (p.Ser417=)
11g.68157853A>TCA475514633KMT5Bc.2280T>A (p.Ser760=)
n.2845T>A
c.*2117T>A (n.*2117T>A)
c.*2160T>A (n.*2160T>A)
c.1977T>A (p.Ser659=)
c.*1701T>A (n.*1701T>A)
c.2493T>A (p.Ser831=)
c.1773T>A (p.Ser591=)
c.2424T>A (p.Ser808=)
c.1251T>A (p.Ser417=)
11g.68157853_68157856delinsAGAGCA1980500050KMT5Bc.2277_2280delinsCTCT (p.Ser759=)
n.2842_2845delinsCTCT
c.*2114_*2117delinsCTCT (n.*2114_*2117delinsCTCT)
c.*2157_*2160delinsCTCT (n.*2157_*2160delinsCTCT)
c.1974_1977delinsCTCT (p.Ser658=)
c.*1698_*1701delinsCTCT (n.*1698_*1701delinsCTCT)
c.2490_2493delinsCTCT (p.Ser830=)
c.1770_1773delinsCTCT (p.Ser590=)
c.2421_2424delinsCTCT (p.Ser807=)
c.1248_1251delinsCTCT (p.Ser416=)
11g.68157854G>ACA381586712KMT5Bc.2279C>T (p.Ser760Phe)
n.2844C>T
c.*2116C>T (n.*2116C>T)
c.*2159C>T (n.*2159C>T)
c.1976C>T (p.Ser659Phe)
c.*1700C>T (n.*1700C>T)
c.2492C>T (p.Ser831Phe)
c.1772C>T (p.Ser591Phe)
c.2423C>T (p.Ser808Phe)
c.1250C>T (p.Ser417Phe)
11g.68157854G>CCA381586715KMT5Bc.2279C>G (p.Ser760Cys)
n.2844C>G
c.*2116C>G (n.*2116C>G)
c.*2159C>G (n.*2159C>G)
c.1976C>G (p.Ser659Cys)
c.*1700C>G (n.*1700C>G)
c.2492C>G (p.Ser831Cys)
c.1772C>G (p.Ser591Cys)
c.2423C>G (p.Ser808Cys)
c.1250C>G (p.Ser417Cys)
gnomAD v4
11g.68157854G>TCA381586718KMT5Bc.2279C>A (p.Ser760Tyr)
n.2844C>A
c.*2116C>A (n.*2116C>A)
c.*2159C>A (n.*2159C>A)
c.1976C>A (p.Ser659Tyr)
c.*1700C>A (n.*1700C>A)
c.2492C>A (p.Ser831Tyr)
c.1772C>A (p.Ser591Tyr)
c.2423C>A (p.Ser808Tyr)
c.1250C>A (p.Ser417Tyr)
ClinVar
11g.68157859_68157861delCA6148006KMT5Bc.2277_2279del (p.Ser760del)
n.2842_2844del
c.*2114_*2116del (n.*2114_*2116del)
c.*2157_*2159del (n.*2157_*2159del)
c.1974_1976del (p.Ser659del)
c.*1698_*1700del (n.*1698_*1700del)
c.2490_2492del (p.Ser831del)
c.1770_1772del (p.Ser591del)
c.2421_2423del (p.Ser808del)
c.1248_1250del (p.Ser417del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157855A>CCA381586725KMT5Bc.2278T>G (p.Ser760Ala)
n.2843T>G
c.*2115T>G (n.*2115T>G)
c.*2158T>G (n.*2158T>G)
c.1975T>G (p.Ser659Ala)
c.*1699T>G (n.*1699T>G)
c.2491T>G (p.Ser831Ala)
c.1771T>G (p.Ser591Ala)
c.2422T>G (p.Ser808Ala)
c.1249T>G (p.Ser417Ala)
11g.68157855A>GCA381586728KMT5Bc.2278T>C (p.Ser760Pro)
n.2843T>C
c.*2115T>C (n.*2115T>C)
c.*2158T>C (n.*2158T>C)
c.1975T>C (p.Ser659Pro)
c.*1699T>C (n.*1699T>C)
c.2491T>C (p.Ser831Pro)
c.1771T>C (p.Ser591Pro)
c.2422T>C (p.Ser808Pro)
c.1249T>C (p.Ser417Pro)
11g.68157855A>TCA381586729KMT5Bc.2278T>A (p.Ser760Thr)
n.2843T>A
c.*2115T>A (n.*2115T>A)
c.*2158T>A (n.*2158T>A)
c.1975T>A (p.Ser659Thr)
c.*1699T>A (n.*1699T>A)
c.2491T>A (p.Ser831Thr)
c.1771T>A (p.Ser591Thr)
c.2422T>A (p.Ser808Thr)
c.1249T>A (p.Ser417Thr)
11g.68157856G>ACA475514637KMT5Bc.2277C>T (p.Ser759=)
n.2842C>T
c.*2114C>T (n.*2114C>T)
c.*2157C>T (n.*2157C>T)
c.1974C>T (p.Ser658=)
c.*1698C>T (n.*1698C>T)
c.2490C>T (p.Ser830=)
c.1770C>T (p.Ser590=)
c.2421C>T (p.Ser807=)
c.1248C>T (p.Ser416=)
11g.68157856G>CCA475514638KMT5Bc.2277C>G (p.Ser759=)
n.2842C>G
c.*2114C>G (n.*2114C>G)
c.*2157C>G (n.*2157C>G)
c.1974C>G (p.Ser658=)
c.*1698C>G (n.*1698C>G)
c.2490C>G (p.Ser830=)
c.1770C>G (p.Ser590=)
c.2421C>G (p.Ser807=)
c.1248C>G (p.Ser416=)
gnomAD v4
11g.68157856G>TCA475514639KMT5Bc.2277C>A (p.Ser759=)
n.2842C>A
c.*2114C>A (n.*2114C>A)
c.*2157C>A (n.*2157C>A)
c.1974C>A (p.Ser658=)
c.*1698C>A (n.*1698C>A)
c.2490C>A (p.Ser830=)
c.1770C>A (p.Ser590=)
c.2421C>A (p.Ser807=)
c.1248C>A (p.Ser416=)
11g.68157857G>ACA381586731KMT5Bc.2276C>T (p.Ser759Phe)
n.2841C>T
c.*2113C>T (n.*2113C>T)
c.*2156C>T (n.*2156C>T)
c.1973C>T (p.Ser658Phe)
c.*1697C>T (n.*1697C>T)
c.2489C>T (p.Ser830Phe)
c.1769C>T (p.Ser590Phe)
c.2420C>T (p.Ser807Phe)
c.1247C>T (p.Ser416Phe)
ClinVar gnomAD v4
11g.68157857G>CCA381586734KMT5Bc.2276C>G (p.Ser759Cys)
n.2841C>G
c.*2113C>G (n.*2113C>G)
c.*2156C>G (n.*2156C>G)
c.1973C>G (p.Ser658Cys)
c.*1697C>G (n.*1697C>G)
c.2489C>G (p.Ser830Cys)
c.1769C>G (p.Ser590Cys)
c.2420C>G (p.Ser807Cys)
c.1247C>G (p.Ser416Cys)
dbSNP
11g.68157857G=CA1980500055KMT5Bc.2276C= (p.Ser759=)
n.2841C=
c.*2113C= (n.*2113C=)
c.*2156C= (n.*2156C=)
c.1973C= (p.Ser658=)
c.*1697C= (n.*1697C=)
c.2489C= (p.Ser830=)
c.1769C= (p.Ser590=)
c.2420C= (p.Ser807=)
c.1247C= (p.Ser416=)
11g.68157857G>TCA381586737KMT5Bc.2276C>A (p.Ser759Tyr)
n.2841C>A
c.*2113C>A (n.*2113C>A)
c.*2156C>A (n.*2156C>A)
c.1973C>A (p.Ser658Tyr)
c.*1697C>A (n.*1697C>A)
c.2489C>A (p.Ser830Tyr)
c.1769C>A (p.Ser590Tyr)
c.2420C>A (p.Ser807Tyr)
c.1247C>A (p.Ser416Tyr)
11g.68157858A>CCA381586749KMT5Bc.2275T>G (p.Ser759Ala)
n.2840T>G
c.*2112T>G (n.*2112T>G)
c.*2155T>G (n.*2155T>G)
c.1972T>G (p.Ser658Ala)
c.*1696T>G (n.*1696T>G)
c.2488T>G (p.Ser830Ala)
c.1768T>G (p.Ser590Ala)
c.2419T>G (p.Ser807Ala)
c.1246T>G (p.Ser416Ala)
11g.68157858A>GCA381586742KMT5Bc.2275T>C (p.Ser759Pro)
n.2840T>C
c.*2112T>C (n.*2112T>C)
c.*2155T>C (n.*2155T>C)
c.1972T>C (p.Ser658Pro)
c.*1696T>C (n.*1696T>C)
c.2488T>C (p.Ser830Pro)
c.1768T>C (p.Ser590Pro)
c.2419T>C (p.Ser807Pro)
c.1246T>C (p.Ser416Pro)
gnomAD v4
11g.68157858A>TCA381586746KMT5Bc.2275T>A (p.Ser759Thr)
n.2840T>A
c.*2112T>A (n.*2112T>A)
c.*2155T>A (n.*2155T>A)
c.1972T>A (p.Ser658Thr)
c.*1696T>A (n.*1696T>A)
c.2488T>A (p.Ser830Thr)
c.1768T>A (p.Ser590Thr)
c.2419T>A (p.Ser807Thr)
c.1246T>A (p.Ser416Thr)
gnomAD v4
11g.68157859G>ACA475514643KMT5Bc.2274C>T (p.Ser758=)
n.2839C>T
c.*2111C>T (n.*2111C>T)
c.*2154C>T (n.*2154C>T)
c.1971C>T (p.Ser657=)
c.*1695C>T (n.*1695C>T)
c.2487C>T (p.Ser829=)
c.1767C>T (p.Ser589=)
c.2418C>T (p.Ser806=)
c.1245C>T (p.Ser415=)
dbSNP gnomAD v4
11g.68157859G>CCA475514644KMT5Bc.2274C>G (p.Ser758=)
n.2839C>G
c.*2111C>G (n.*2111C>G)
c.*2154C>G (n.*2154C>G)
c.1971C>G (p.Ser657=)
c.*1695C>G (n.*1695C>G)
c.2487C>G (p.Ser829=)
c.1767C>G (p.Ser589=)
c.2418C>G (p.Ser806=)
c.1245C>G (p.Ser415=)
11g.68157859G=CA1980500062KMT5Bc.2274C= (p.Ser758=)
n.2839C=
c.*2111C= (n.*2111C=)
c.*2154C= (n.*2154C=)
c.1971C= (p.Ser657=)
c.*1695C= (n.*1695C=)
c.2487C= (p.Ser829=)
c.1767C= (p.Ser589=)
c.2418C= (p.Ser806=)
c.1245C= (p.Ser415=)
11g.68157859G>TCA475514645KMT5Bc.2274C>A (p.Ser758=)
n.2839C>A
c.*2111C>A (n.*2111C>A)
c.*2154C>A (n.*2154C>A)
c.1971C>A (p.Ser657=)
c.*1695C>A (n.*1695C>A)
c.2487C>A (p.Ser829=)
c.1767C>A (p.Ser589=)
c.2418C>A (p.Ser806=)
c.1245C>A (p.Ser415=)
11g.68157860G>ACA381586754KMT5Bc.2273C>T (p.Ser758Phe)
n.2838C>T
c.*2110C>T (n.*2110C>T)
c.*2153C>T (n.*2153C>T)
c.1970C>T (p.Ser657Phe)
c.*1694C>T (n.*1694C>T)
c.2486C>T (p.Ser829Phe)
c.1766C>T (p.Ser589Phe)
c.2417C>T (p.Ser806Phe)
c.1244C>T (p.Ser415Phe)
11g.68157860G>CCA381586756KMT5Bc.2273C>G (p.Ser758Cys)
n.2838C>G
c.*2110C>G (n.*2110C>G)
c.*2153C>G (n.*2153C>G)
c.1970C>G (p.Ser657Cys)
c.*1694C>G (n.*1694C>G)
c.2486C>G (p.Ser829Cys)
c.1766C>G (p.Ser589Cys)
c.2417C>G (p.Ser806Cys)
c.1244C>G (p.Ser415Cys)
11g.68157860G>TCA381586762KMT5Bc.2273C>A (p.Ser758Tyr)
n.2838C>A
c.*2110C>A (n.*2110C>A)
c.*2153C>A (n.*2153C>A)
c.1970C>A (p.Ser657Tyr)
c.*1694C>A (n.*1694C>A)
c.2486C>A (p.Ser829Tyr)
c.1766C>A (p.Ser589Tyr)
c.2417C>A (p.Ser806Tyr)
c.1244C>A (p.Ser415Tyr)
gnomAD v4
11g.68157861A>CCA381586765KMT5Bc.2272T>G (p.Ser758Ala)
n.2837T>G
c.*2109T>G (n.*2109T>G)
c.*2152T>G (n.*2152T>G)
c.1969T>G (p.Ser657Ala)
c.*1693T>G (n.*1693T>G)
c.2485T>G (p.Ser829Ala)
c.1765T>G (p.Ser589Ala)
c.2416T>G (p.Ser806Ala)
c.1243T>G (p.Ser415Ala)
11g.68157861A>GCA381586767KMT5Bc.2272T>C (p.Ser758Pro)
n.2837T>C
c.*2109T>C (n.*2109T>C)
c.*2152T>C (n.*2152T>C)
c.1969T>C (p.Ser657Pro)
c.*1693T>C (n.*1693T>C)
c.2485T>C (p.Ser829Pro)
c.1765T>C (p.Ser589Pro)
c.2416T>C (p.Ser806Pro)
c.1243T>C (p.Ser415Pro)
11g.68157861A>TCA381586769KMT5Bc.2272T>A (p.Ser758Thr)
n.2837T>A
c.*2109T>A (n.*2109T>A)
c.*2152T>A (n.*2152T>A)
c.1969T>A (p.Ser657Thr)
c.*1693T>A (n.*1693T>A)
c.2485T>A (p.Ser829Thr)
c.1765T>A (p.Ser589Thr)
c.2416T>A (p.Ser806Thr)
c.1243T>A (p.Ser415Thr)
11g.68157861_68157864delinsAATCCA1980500066KMT5Bc.2269_2272delinsGATT (p.Asp757=)
n.2834_2837delinsGATT
c.*2106_*2109delinsGATT (n.*2106_*2109delinsGATT)
c.*2149_*2152delinsGATT (n.*2149_*2152delinsGATT)
c.1966_1969delinsGATT (p.Asp656=)
c.*1690_*1693delinsGATT (n.*1690_*1693delinsGATT)
c.2482_2485delinsGATT (p.Asp828=)
c.1762_1765delinsGATT (p.Asp588=)
c.2413_2416delinsGATT (p.Asp805=)
c.1240_1243delinsGATT (p.Asp414=)
11g.68157862A>CCA381586772KMT5Bc.2271T>G (p.Asp757Glu)
n.2836T>G
c.*2108T>G (n.*2108T>G)
c.*2151T>G (n.*2151T>G)
c.1968T>G (p.Asp656Glu)
c.*1692T>G (n.*1692T>G)
c.2484T>G (p.Asp828Glu)
c.1764T>G (p.Asp588Glu)
c.2415T>G (p.Asp805Glu)
c.1242T>G (p.Asp414Glu)
11g.68157862A>GCA475514649KMT5Bc.2271T>C (p.Asp757=)
n.2836T>C
c.*2108T>C (n.*2108T>C)
c.*2151T>C (n.*2151T>C)
c.1968T>C (p.Asp656=)
c.*1692T>C (n.*1692T>C)
c.2484T>C (p.Asp828=)
c.1764T>C (p.Asp588=)
c.2415T>C (p.Asp805=)
c.1242T>C (p.Asp414=)
gnomAD v4
11g.68157862A>TCA381586784KMT5Bc.2271T>A (p.Asp757Glu)
n.2836T>A
c.*2108T>A (n.*2108T>A)
c.*2151T>A (n.*2151T>A)
c.1968T>A (p.Asp656Glu)
c.*1692T>A (n.*1692T>A)
c.2484T>A (p.Asp828Glu)
c.1764T>A (p.Asp588Glu)
c.2415T>A (p.Asp805Glu)
c.1242T>A (p.Asp414Glu)
11g.68157865_68157867delCA6148007KMT5Bc.2269_2271del (p.Asp757del)
n.2834_2836del
c.*2106_*2108del (n.*2106_*2108del)
c.*2149_*2151del (n.*2149_*2151del)
c.1966_1968del (p.Asp656del)
c.*1690_*1692del (n.*1690_*1692del)
c.2482_2484del (p.Asp828del)
c.1762_1764del (p.Asp588del)
c.2413_2415del (p.Asp805del)
c.1240_1242del (p.Asp414del)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157863T>ACA381586789KMT5Bc.2270A>T (p.Asp757Val)
n.2835A>T
c.*2107A>T (n.*2107A>T)
c.*2150A>T (n.*2150A>T)
c.1967A>T (p.Asp656Val)
c.*1691A>T (n.*1691A>T)
c.2483A>T (p.Asp828Val)
c.1763A>T (p.Asp588Val)
c.2414A>T (p.Asp805Val)
c.1241A>T (p.Asp414Val)
dbSNP
11g.68157863T>CCA381586790KMT5Bc.2270A>G (p.Asp757Gly)
n.2835A>G
c.*2107A>G (n.*2107A>G)
c.*2150A>G (n.*2150A>G)
c.1967A>G (p.Asp656Gly)
c.*1691A>G (n.*1691A>G)
c.2483A>G (p.Asp828Gly)
c.1763A>G (p.Asp588Gly)
c.2414A>G (p.Asp805Gly)
c.1241A>G (p.Asp414Gly)
gnomAD v4
11g.68157863T>GCA381586793KMT5Bc.2270A>C (p.Asp757Ala)
n.2835A>C
c.*2107A>C (n.*2107A>C)
c.*2150A>C (n.*2150A>C)
c.1967A>C (p.Asp656Ala)
c.*1691A>C (n.*1691A>C)
c.2483A>C (p.Asp828Ala)
c.1763A>C (p.Asp588Ala)
c.2414A>C (p.Asp805Ala)
c.1241A>C (p.Asp414Ala)
11g.68157863T=CA1980500075KMT5Bc.2270A= (p.Asp757=)
n.2835A=
c.*2107A= (n.*2107A=)
c.*2150A= (n.*2150A=)
c.1967A= (p.Asp656=)
c.*1691A= (n.*1691A=)
c.2483A= (p.Asp828=)
c.1763A= (p.Asp588=)
c.2414A= (p.Asp805=)
c.1241A= (p.Asp414=)
11g.68157864C>ACA381586801KMT5Bc.2269G>T (p.Asp757Tyr)
n.2834G>T
c.*2106G>T (n.*2106G>T)
c.*2149G>T (n.*2149G>T)
c.1966G>T (p.Asp656Tyr)
c.*1690G>T (n.*1690G>T)
c.2482G>T (p.Asp828Tyr)
c.1762G>T (p.Asp588Tyr)
c.2413G>T (p.Asp805Tyr)
c.1240G>T (p.Asp414Tyr)
gnomAD v4
11g.68157864C>GCA381586805KMT5Bc.2269G>C (p.Asp757His)
n.2834G>C
c.*2106G>C (n.*2106G>C)
c.*2149G>C (n.*2149G>C)
c.1966G>C (p.Asp656His)
c.*1690G>C (n.*1690G>C)
c.2482G>C (p.Asp828His)
c.1762G>C (p.Asp588His)
c.2413G>C (p.Asp805His)
c.1240G>C (p.Asp414His)
11g.68157864C>TCA381586797KMT5Bc.2269G>A (p.Asp757Asn)
n.2834G>A
c.*2106G>A (n.*2106G>A)
c.*2149G>A (n.*2149G>A)
c.1966G>A (p.Asp656Asn)
c.*1690G>A (n.*1690G>A)
c.2482G>A (p.Asp828Asn)
c.1762G>A (p.Asp588Asn)
c.2413G>A (p.Asp805Asn)
c.1240G>A (p.Asp414Asn)
COSMIC COSMIC
11g.68157865A=CA1980500081KMT5Bc.2268T= (p.Asp756=)
n.2833T=
c.*2105T= (n.*2105T=)
c.*2148T= (n.*2148T=)
c.1965T= (p.Asp655=)
c.*1689T= (n.*1689T=)
c.2481T= (p.Asp827=)
c.1761T= (p.Asp587=)
c.2412T= (p.Asp804=)
c.1239T= (p.Asp413=)
11g.68157865A>CCA381586808KMT5Bc.2268T>G (p.Asp756Glu)
n.2833T>G
c.*2105T>G (n.*2105T>G)
c.*2148T>G (n.*2148T>G)
c.1965T>G (p.Asp655Glu)
c.*1689T>G (n.*1689T>G)
c.2481T>G (p.Asp827Glu)
c.1761T>G (p.Asp587Glu)
c.2412T>G (p.Asp804Glu)
c.1239T>G (p.Asp413Glu)
11g.68157865A>GCA6148008KMT5Bc.2268T>C (p.Asp756=)
n.2833T>C
c.*2105T>C (n.*2105T>C)
c.*2148T>C (n.*2148T>C)
c.1965T>C (p.Asp655=)
c.*1689T>C (n.*1689T>C)
c.2481T>C (p.Asp827=)
c.1761T>C (p.Asp587=)
c.2412T>C (p.Asp804=)
c.1239T>C (p.Asp413=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157865A>TCA381586812KMT5Bc.2268T>A (p.Asp756Glu)
n.2833T>A
c.*2105T>A (n.*2105T>A)
c.*2148T>A (n.*2148T>A)
c.1965T>A (p.Asp655Glu)
c.*1689T>A (n.*1689T>A)
c.2481T>A (p.Asp827Glu)
c.1761T>A (p.Asp587Glu)
c.2412T>A (p.Asp804Glu)
c.1239T>A (p.Asp413Glu)
11g.68157866T>ACA381586816KMT5Bc.2267A>T (p.Asp756Val)
n.2832A>T
c.*2104A>T (n.*2104A>T)
c.*2147A>T (n.*2147A>T)
c.1964A>T (p.Asp655Val)
c.*1688A>T (n.*1688A>T)
c.2480A>T (p.Asp827Val)
c.1760A>T (p.Asp587Val)
c.2411A>T (p.Asp804Val)
c.1238A>T (p.Asp413Val)
11g.68157866T>CCA381586826KMT5Bc.2267A>G (p.Asp756Gly)
n.2832A>G
c.*2104A>G (n.*2104A>G)
c.*2147A>G (n.*2147A>G)
c.1964A>G (p.Asp655Gly)
c.*1688A>G (n.*1688A>G)
c.2480A>G (p.Asp827Gly)
c.1760A>G (p.Asp587Gly)
c.2411A>G (p.Asp804Gly)
c.1238A>G (p.Asp413Gly)
11g.68157866T>GCA381586829KMT5Bc.2267A>C (p.Asp756Ala)
n.2832A>C
c.*2104A>C (n.*2104A>C)
c.*2147A>C (n.*2147A>C)
c.1964A>C (p.Asp655Ala)
c.*1688A>C (n.*1688A>C)
c.2480A>C (p.Asp827Ala)
c.1760A>C (p.Asp587Ala)
c.2411A>C (p.Asp804Ala)
c.1238A>C (p.Asp413Ala)
11g.68157867C>ACA381586833KMT5Bc.2266G>T (p.Asp756Tyr)
n.2831G>T
c.*2103G>T (n.*2103G>T)
c.*2146G>T (n.*2146G>T)
c.1963G>T (p.Asp655Tyr)
c.*1687G>T (n.*1687G>T)
c.2479G>T (p.Asp827Tyr)
c.1759G>T (p.Asp587Tyr)
c.2410G>T (p.Asp804Tyr)
c.1237G>T (p.Asp413Tyr)
COSMIC COSMIC
11g.68157867C>GCA381586835KMT5Bc.2266G>C (p.Asp756His)
n.2831G>C
c.*2103G>C (n.*2103G>C)
c.*2146G>C (n.*2146G>C)
c.1963G>C (p.Asp655His)
c.*1687G>C (n.*1687G>C)
c.2479G>C (p.Asp827His)
c.1759G>C (p.Asp587His)
c.2410G>C (p.Asp804His)
c.1237G>C (p.Asp413His)
11g.68157867C>TCA381586837KMT5Bc.2266G>A (p.Asp756Asn)
n.2831G>A
c.*2103G>A (n.*2103G>A)
c.*2146G>A (n.*2146G>A)
c.1963G>A (p.Asp655Asn)
c.*1687G>A (n.*1687G>A)
c.2479G>A (p.Asp827Asn)
c.1759G>A (p.Asp587Asn)
c.2410G>A (p.Asp804Asn)
c.1237G>A (p.Asp413Asn)
11g.68157868T>ACA475514657KMT5Bc.2265A>T (p.Thr755=)
n.2830A>T
c.*2102A>T (n.*2102A>T)
c.*2145A>T (n.*2145A>T)
c.1962A>T (p.Thr654=)
c.*1686A>T (n.*1686A>T)
c.2478A>T (p.Thr826=)
c.1758A>T (p.Thr586=)
c.2409A>T (p.Thr803=)
c.1236A>T (p.Thr412=)
gnomAD v4
11g.68157868T>CCA475514655KMT5Bc.2265A>G (p.Thr755=)
n.2830A>G
c.*2102A>G (n.*2102A>G)
c.*2145A>G (n.*2145A>G)
c.1962A>G (p.Thr654=)
c.*1686A>G (n.*1686A>G)
c.2478A>G (p.Thr826=)
c.1758A>G (p.Thr586=)
c.2409A>G (p.Thr803=)
c.1236A>G (p.Thr412=)
11g.68157868T>GCA475514653KMT5Bc.2265A>C (p.Thr755=)
n.2830A>C
c.*2102A>C (n.*2102A>C)
c.*2145A>C (n.*2145A>C)
c.1962A>C (p.Thr654=)
c.*1686A>C (n.*1686A>C)
c.2478A>C (p.Thr826=)
c.1758A>C (p.Thr586=)
c.2409A>C (p.Thr803=)
c.1236A>C (p.Thr412=)
11g.68157869G>ACA381586839KMT5Bc.2264C>T (p.Thr755Ile)
n.2829C>T
c.*2101C>T (n.*2101C>T)
c.*2144C>T (n.*2144C>T)
c.1961C>T (p.Thr654Ile)
c.*1685C>T (n.*1685C>T)
c.2477C>T (p.Thr826Ile)
c.1757C>T (p.Thr586Ile)
c.2408C>T (p.Thr803Ile)
c.1235C>T (p.Thr412Ile)
11g.68157869G>CCA381586846KMT5Bc.2264C>G (p.Thr755Arg)
n.2829C>G
c.*2101C>G (n.*2101C>G)
c.*2144C>G (n.*2144C>G)
c.1961C>G (p.Thr654Arg)
c.*1685C>G (n.*1685C>G)
c.2477C>G (p.Thr826Arg)
c.1757C>G (p.Thr586Arg)
c.2408C>G (p.Thr803Arg)
c.1235C>G (p.Thr412Arg)
11g.68157869G>TCA381586848KMT5Bc.2264C>A (p.Thr755Lys)
n.2829C>A
c.*2101C>A (n.*2101C>A)
c.*2144C>A (n.*2144C>A)
c.1961C>A (p.Thr654Lys)
c.*1685C>A (n.*1685C>A)
c.2477C>A (p.Thr826Lys)
c.1757C>A (p.Thr586Lys)
c.2408C>A (p.Thr803Lys)
c.1235C>A (p.Thr412Lys)
11g.68157870T>ACA381586849KMT5Bc.2263A>T (p.Thr755Ser)
n.2828A>T
c.*2100A>T (n.*2100A>T)
c.*2143A>T (n.*2143A>T)
c.1960A>T (p.Thr654Ser)
c.*1684A>T (n.*1684A>T)
c.2476A>T (p.Thr826Ser)
c.1756A>T (p.Thr586Ser)
c.2407A>T (p.Thr803Ser)
c.1234A>T (p.Thr412Ser)
11g.68157870T>CCA381586852KMT5Bc.2263A>G (p.Thr755Ala)
n.2828A>G
c.*2100A>G (n.*2100A>G)
c.*2143A>G (n.*2143A>G)
c.1960A>G (p.Thr654Ala)
c.*1684A>G (n.*1684A>G)
c.2476A>G (p.Thr826Ala)
c.1756A>G (p.Thr586Ala)
c.2407A>G (p.Thr803Ala)
c.1234A>G (p.Thr412Ala)
11g.68157870T>GCA381586854KMT5Bc.2263A>C (p.Thr755Pro)
n.2828A>C
c.*2100A>C (n.*2100A>C)
c.*2143A>C (n.*2143A>C)
c.1960A>C (p.Thr654Pro)
c.*1684A>C (n.*1684A>C)
c.2476A>C (p.Thr826Pro)
c.1756A>C (p.Thr586Pro)
c.2407A>C (p.Thr803Pro)
c.1234A>C (p.Thr412Pro)
11g.68157871A=CA1980500086KMT5Bc.2262T= (p.Ser754=)
n.2827T=
c.*2099T= (n.*2099T=)
c.*2142T= (n.*2142T=)
c.1959T= (p.Ser653=)
c.*1683T= (n.*1683T=)
c.2475T= (p.Ser825=)
c.1755T= (p.Ser585=)
c.2406T= (p.Ser802=)
c.1233T= (p.Ser411=)
11g.68157871A>CCA381586857KMT5Bc.2262T>G (p.Ser754Arg)
n.2827T>G
c.*2099T>G (n.*2099T>G)
c.*2142T>G (n.*2142T>G)
c.1959T>G (p.Ser653Arg)
c.*1683T>G (n.*1683T>G)
c.2475T>G (p.Ser825Arg)
c.1755T>G (p.Ser585Arg)
c.2406T>G (p.Ser802Arg)
c.1233T>G (p.Ser411Arg)
11g.68157871A>GCA475514659KMT5Bc.2262T>C (p.Ser754=)
n.2827T>C
c.*2099T>C (n.*2099T>C)
c.*2142T>C (n.*2142T>C)
c.1959T>C (p.Ser653=)
c.*1683T>C (n.*1683T>C)
c.2475T>C (p.Ser825=)
c.1755T>C (p.Ser585=)
c.2406T>C (p.Ser802=)
c.1233T>C (p.Ser411=)
dbSNP gnomAD v4
11g.68157871A>TCA381586859KMT5Bc.2262T>A (p.Ser754Arg)
n.2827T>A
c.*2099T>A (n.*2099T>A)
c.*2142T>A (n.*2142T>A)
c.1959T>A (p.Ser653Arg)
c.*1683T>A (n.*1683T>A)
c.2475T>A (p.Ser825Arg)
c.1755T>A (p.Ser585Arg)
c.2406T>A (p.Ser802Arg)
c.1233T>A (p.Ser411Arg)
11g.68157872C>ACA381586862KMT5Bc.2261G>T (p.Ser754Ile)
n.2826G>T
c.*2098G>T (n.*2098G>T)
c.*2141G>T (n.*2141G>T)
c.1958G>T (p.Ser653Ile)
c.*1682G>T (n.*1682G>T)
c.2474G>T (p.Ser825Ile)
c.1754G>T (p.Ser585Ile)
c.2405G>T (p.Ser802Ile)
c.1232G>T (p.Ser411Ile)
11g.68157872C>GCA381586866KMT5Bc.2261G>C (p.Ser754Thr)
n.2826G>C
c.*2098G>C (n.*2098G>C)
c.*2141G>C (n.*2141G>C)
c.1958G>C (p.Ser653Thr)
c.*1682G>C (n.*1682G>C)
c.2474G>C (p.Ser825Thr)
c.1754G>C (p.Ser585Thr)
c.2405G>C (p.Ser802Thr)
c.1232G>C (p.Ser411Thr)
11g.68157872C>TCA381586869KMT5Bc.2261G>A (p.Ser754Asn)
n.2826G>A
c.*2098G>A (n.*2098G>A)
c.*2141G>A (n.*2141G>A)
c.1958G>A (p.Ser653Asn)
c.*1682G>A (n.*1682G>A)
c.2474G>A (p.Ser825Asn)
c.1754G>A (p.Ser585Asn)
c.2405G>A (p.Ser802Asn)
c.1232G>A (p.Ser411Asn)
ClinVar dbSNP
11g.68157875_68157878delCA2580084652KMT5Bc.2258_2261del (p.Glu753ValfsTer?)
n.2823_2826del
c.*2095_*2098del (n.*2095_*2098del)
c.*2138_*2141del (n.*2138_*2141del)
c.1955_1958del (p.Glu652ValfsTer?)
c.*1679_*1682del (n.*1679_*1682del)
c.2471_2474del (p.Glu824ValfsTer?)
c.1751_1754del (p.Glu584ValfsTer?)
c.2402_2405del (p.Glu801ValfsTer?)
c.1229_1232del (p.Glu410ValfsTer?)
ClinVar
11g.68157873T>ACA381586870KMT5Bc.2260A>T (p.Ser754Cys)
n.2825A>T
c.*2097A>T (n.*2097A>T)
c.*2140A>T (n.*2140A>T)
c.1957A>T (p.Ser653Cys)
c.*1681A>T (n.*1681A>T)
c.2473A>T (p.Ser825Cys)
c.1753A>T (p.Ser585Cys)
c.2404A>T (p.Ser802Cys)
c.1231A>T (p.Ser411Cys)
11g.68157873T>CCA381586872KMT5Bc.2260A>G (p.Ser754Gly)
n.2825A>G
c.*2097A>G (n.*2097A>G)
c.*2140A>G (n.*2140A>G)
c.1957A>G (p.Ser653Gly)
c.*1681A>G (n.*1681A>G)
c.2473A>G (p.Ser825Gly)
c.1753A>G (p.Ser585Gly)
c.2404A>G (p.Ser802Gly)
c.1231A>G (p.Ser411Gly)
11g.68157873T>GCA381586873KMT5Bc.2260A>C (p.Ser754Arg)
n.2825A>C
c.*2097A>C (n.*2097A>C)
c.*2140A>C (n.*2140A>C)
c.1957A>C (p.Ser653Arg)
c.*1681A>C (n.*1681A>C)
c.2473A>C (p.Ser825Arg)
c.1753A>C (p.Ser585Arg)
c.2404A>C (p.Ser802Arg)
c.1231A>C (p.Ser411Arg)
11g.68157874T>ACA381586879KMT5Bc.2259A>T (p.Glu753Asp)
n.2824A>T
c.*2096A>T (n.*2096A>T)
c.*2139A>T (n.*2139A>T)
c.1956A>T (p.Glu652Asp)
c.*1680A>T (n.*1680A>T)
c.2472A>T (p.Glu824Asp)
c.1752A>T (p.Glu584Asp)
c.2403A>T (p.Glu801Asp)
c.1230A>T (p.Glu410Asp)
11g.68157874T>CCA475514664KMT5Bc.2259A>G (p.Glu753=)
n.2824A>G
c.*2096A>G (n.*2096A>G)
c.*2139A>G (n.*2139A>G)
c.1956A>G (p.Glu652=)
c.*1680A>G (n.*1680A>G)
c.2472A>G (p.Glu824=)
c.1752A>G (p.Glu584=)
c.2403A>G (p.Glu801=)
c.1230A>G (p.Glu410=)
gnomAD v4
11g.68157874T>GCA381586876KMT5Bc.2259A>C (p.Glu753Asp)
n.2824A>C
c.*2096A>C (n.*2096A>C)
c.*2139A>C (n.*2139A>C)
c.1956A>C (p.Glu652Asp)
c.*1680A>C (n.*1680A>C)
c.2472A>C (p.Glu824Asp)
c.1752A>C (p.Glu584Asp)
c.2403A>C (p.Glu801Asp)
c.1230A>C (p.Glu410Asp)
11g.68157875T>ACA381586881KMT5Bc.2258A>T (p.Glu753Val)
n.2823A>T
c.*2095A>T (n.*2095A>T)
c.*2138A>T (n.*2138A>T)
c.1955A>T (p.Glu652Val)
c.*1679A>T (n.*1679A>T)
c.2471A>T (p.Glu824Val)
c.1751A>T (p.Glu584Val)
c.2402A>T (p.Glu801Val)
c.1229A>T (p.Glu410Val)
11g.68157875T>CCA381586883KMT5Bc.2258A>G (p.Glu753Gly)
n.2823A>G
c.*2095A>G (n.*2095A>G)
c.*2138A>G (n.*2138A>G)
c.1955A>G (p.Glu652Gly)
c.*1679A>G (n.*1679A>G)
c.2471A>G (p.Glu824Gly)
c.1751A>G (p.Glu584Gly)
c.2402A>G (p.Glu801Gly)
c.1229A>G (p.Glu410Gly)
11g.68157875T>GCA381586885KMT5Bc.2258A>C (p.Glu753Ala)
n.2823A>C
c.*2095A>C (n.*2095A>C)
c.*2138A>C (n.*2138A>C)
c.1955A>C (p.Glu652Ala)
c.*1679A>C (n.*1679A>C)
c.2471A>C (p.Glu824Ala)
c.1751A>C (p.Glu584Ala)
c.2402A>C (p.Glu801Ala)
c.1229A>C (p.Glu410Ala)
11g.68157876C>ACA381586887KMT5Bc.2257G>T (p.Glu753Ter)
n.2822G>T
c.*2094G>T (n.*2094G>T)
c.*2137G>T (n.*2137G>T)
c.1954G>T (p.Glu652Ter)
c.*1678G>T (n.*1678G>T)
c.2470G>T (p.Glu824Ter)
c.1750G>T (p.Glu584Ter)
c.2401G>T (p.Glu801Ter)
c.1228G>T (p.Glu410Ter)
11g.68157876C>GCA381586888KMT5Bc.2257G>C (p.Glu753Gln)
n.2822G>C
c.*2094G>C (n.*2094G>C)
c.*2137G>C (n.*2137G>C)
c.1954G>C (p.Glu652Gln)
c.*1678G>C (n.*1678G>C)
c.2470G>C (p.Glu824Gln)
c.1750G>C (p.Glu584Gln)
c.2401G>C (p.Glu801Gln)
c.1228G>C (p.Glu410Gln)
gnomAD v4
11g.68157876C>TCA381586890KMT5Bc.2257G>A (p.Glu753Lys)
n.2822G>A
c.*2094G>A (n.*2094G>A)
c.*2137G>A (n.*2137G>A)
c.1954G>A (p.Glu652Lys)
c.*1678G>A (n.*1678G>A)
c.2470G>A (p.Glu824Lys)
c.1750G>A (p.Glu584Lys)
c.2401G>A (p.Glu801Lys)
c.1228G>A (p.Glu410Lys)
gnomAD v4
11g.68157877T>ACA381586893KMT5Bc.2256A>T (p.Glu752Asp)
n.2821A>T
c.*2093A>T (n.*2093A>T)
c.*2136A>T (n.*2136A>T)
c.1953A>T (p.Glu651Asp)
c.*1677A>T (n.*1677A>T)
c.2469A>T (p.Glu823Asp)
c.1749A>T (p.Glu583Asp)
c.2400A>T (p.Glu800Asp)
c.1227A>T (p.Glu409Asp)
11g.68157877T>CCA224247901KMT5Bc.2256A>G (p.Glu752=)
n.2821A>G
c.*2093A>G (n.*2093A>G)
c.*2136A>G (n.*2136A>G)
c.1953A>G (p.Glu651=)
c.*1677A>G (n.*1677A>G)
c.2469A>G (p.Glu823=)
c.1749A>G (p.Glu583=)
c.2400A>G (p.Glu800=)
c.1227A>G (p.Glu409=)
dbSNP gnomAD v3 gnomAD v4
11g.68157877T>GCA381586894KMT5Bc.2256A>C (p.Glu752Asp)
n.2821A>C
c.*2093A>C (n.*2093A>C)
c.*2136A>C (n.*2136A>C)
c.1953A>C (p.Glu651Asp)
c.*1677A>C (n.*1677A>C)
c.2469A>C (p.Glu823Asp)
c.1749A>C (p.Glu583Asp)
c.2400A>C (p.Glu800Asp)
c.1227A>C (p.Glu409Asp)
11g.68157877T=CA1980500094KMT5Bc.2256A= (p.Glu752=)
n.2821A=
c.*2093A= (n.*2093A=)
c.*2136A= (n.*2136A=)
c.1953A= (p.Glu651=)
c.*1677A= (n.*1677A=)
c.2469A= (p.Glu823=)
c.1749A= (p.Glu583=)
c.2400A= (p.Glu800=)
c.1227A= (p.Glu409=)
11g.68157878T>ACA381586901KMT5Bc.2255A>T (p.Glu752Val)
n.2820A>T
c.*2092A>T (n.*2092A>T)
c.*2135A>T (n.*2135A>T)
c.1952A>T (p.Glu651Val)
c.*1676A>T (n.*1676A>T)
c.2468A>T (p.Glu823Val)
c.1748A>T (p.Glu583Val)
c.2399A>T (p.Glu800Val)
c.1226A>T (p.Glu409Val)
11g.68157878T>CCA381586903KMT5Bc.2255A>G (p.Glu752Gly)
n.2820A>G
c.*2092A>G (n.*2092A>G)
c.*2135A>G (n.*2135A>G)
c.1952A>G (p.Glu651Gly)
c.*1676A>G (n.*1676A>G)
c.2468A>G (p.Glu823Gly)
c.1748A>G (p.Glu583Gly)
c.2399A>G (p.Glu800Gly)
c.1226A>G (p.Glu409Gly)
11g.68157878T>GCA381586906KMT5Bc.2255A>C (p.Glu752Ala)
n.2820A>C
c.*2092A>C (n.*2092A>C)
c.*2135A>C (n.*2135A>C)
c.1952A>C (p.Glu651Ala)
c.*1676A>C (n.*1676A>C)
c.2468A>C (p.Glu823Ala)
c.1748A>C (p.Glu583Ala)
c.2399A>C (p.Glu800Ala)
c.1226A>C (p.Glu409Ala)
11g.68157879C>ACA381586912KMT5Bc.2254G>T (p.Glu752Ter)
n.2819G>T
c.*2091G>T (n.*2091G>T)
c.*2134G>T (n.*2134G>T)
c.1951G>T (p.Glu651Ter)
c.*1675G>T (n.*1675G>T)
c.2467G>T (p.Glu823Ter)
c.1747G>T (p.Glu583Ter)
c.2398G>T (p.Glu800Ter)
c.1225G>T (p.Glu409Ter)
11g.68157879C>GCA381586927KMT5Bc.2254G>C (p.Glu752Gln)
n.2819G>C
c.*2091G>C (n.*2091G>C)
c.*2134G>C (n.*2134G>C)
c.1951G>C (p.Glu651Gln)
c.*1675G>C (n.*1675G>C)
c.2467G>C (p.Glu823Gln)
c.1747G>C (p.Glu583Gln)
c.2398G>C (p.Glu800Gln)
c.1225G>C (p.Glu409Gln)
11g.68157879C>TCA381586930KMT5Bc.2254G>A (p.Glu752Lys)
n.2819G>A
c.*2091G>A (n.*2091G>A)
c.*2134G>A (n.*2134G>A)
c.1951G>A (p.Glu651Lys)
c.*1675G>A (n.*1675G>A)
c.2467G>A (p.Glu823Lys)
c.1747G>A (p.Glu583Lys)
c.2398G>A (p.Glu800Lys)
c.1225G>A (p.Glu409Lys)
11g.68157880C>ACA381586935KMT5Bc.2253G>T (p.Glu751Asp)
n.2818G>T
c.*2090G>T (n.*2090G>T)
c.*2133G>T (n.*2133G>T)
c.1950G>T (p.Glu650Asp)
c.*1674G>T (n.*1674G>T)
c.2466G>T (p.Glu822Asp)
c.1746G>T (p.Glu582Asp)
c.2397G>T (p.Glu799Asp)
c.1224G>T (p.Glu408Asp)
11g.68157880C=CA1980500101KMT5Bc.2253G= (p.Glu751=)
n.2818G=
c.*2090G= (n.*2090G=)
c.*2133G= (n.*2133G=)
c.1950G= (p.Glu650=)
c.*1674G= (n.*1674G=)
c.2466G= (p.Glu822=)
c.1746G= (p.Glu582=)
c.2397G= (p.Glu799=)
c.1224G= (p.Glu408=)
11g.68157880C>GCA381586937KMT5Bc.2253G>C (p.Glu751Asp)
n.2818G>C
c.*2090G>C (n.*2090G>C)
c.*2133G>C (n.*2133G>C)
c.1950G>C (p.Glu650Asp)
c.*1674G>C (n.*1674G>C)
c.2466G>C (p.Glu822Asp)
c.1746G>C (p.Glu582Asp)
c.2397G>C (p.Glu799Asp)
c.1224G>C (p.Glu408Asp)
11g.68157880C>TCA6148009KMT5Bc.2253G>A (p.Glu751=)
n.2818G>A
c.*2090G>A (n.*2090G>A)
c.*2133G>A (n.*2133G>A)
c.1950G>A (p.Glu650=)
c.*1674G>A (n.*1674G>A)
c.2466G>A (p.Glu822=)
c.1746G>A (p.Glu582=)
c.2397G>A (p.Glu799=)
c.1224G>A (p.Glu408=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157881T>ACA381586944KMT5Bc.2252A>T (p.Glu751Val)
n.2817A>T
c.*2089A>T (n.*2089A>T)
c.*2132A>T (n.*2132A>T)
c.1949A>T (p.Glu650Val)
c.*1673A>T (n.*1673A>T)
c.2465A>T (p.Glu822Val)
c.1745A>T (p.Glu582Val)
c.2396A>T (p.Glu799Val)
c.1223A>T (p.Glu408Val)
11g.68157881T>CCA381586946KMT5Bc.2252A>G (p.Glu751Gly)
n.2817A>G
c.*2089A>G (n.*2089A>G)
c.*2132A>G (n.*2132A>G)
c.1949A>G (p.Glu650Gly)
c.*1673A>G (n.*1673A>G)
c.2465A>G (p.Glu822Gly)
c.1745A>G (p.Glu582Gly)
c.2396A>G (p.Glu799Gly)
c.1223A>G (p.Glu408Gly)
11g.68157881T>GCA381586949KMT5Bc.2252A>C (p.Glu751Ala)
n.2817A>C
c.*2089A>C (n.*2089A>C)
c.*2132A>C (n.*2132A>C)
c.1949A>C (p.Glu650Ala)
c.*1673A>C (n.*1673A>C)
c.2465A>C (p.Glu822Ala)
c.1745A>C (p.Glu582Ala)
c.2396A>C (p.Glu799Ala)
c.1223A>C (p.Glu408Ala)
11g.68157882C>ACA381586955KMT5Bc.2251G>T (p.Glu751Ter)
n.2816G>T
c.*2088G>T (n.*2088G>T)
c.*2131G>T (n.*2131G>T)
c.1948G>T (p.Glu650Ter)
c.*1672G>T (n.*1672G>T)
c.2464G>T (p.Glu822Ter)
c.1744G>T (p.Glu582Ter)
c.2395G>T (p.Glu799Ter)
c.1222G>T (p.Glu408Ter)
11g.68157882C=CA1980500106KMT5Bc.2251G= (p.Glu751=)
n.2816G=
c.*2088G= (n.*2088G=)
c.*2131G= (n.*2131G=)
c.1948G= (p.Glu650=)
c.*1672G= (n.*1672G=)
c.2464G= (p.Glu822=)
c.1744G= (p.Glu582=)
c.2395G= (p.Glu799=)
c.1222G= (p.Glu408=)
11g.68157882C>GCA381586967KMT5Bc.2251G>C (p.Glu751Gln)
n.2816G>C
c.*2088G>C (n.*2088G>C)
c.*2131G>C (n.*2131G>C)
c.1948G>C (p.Glu650Gln)
c.*1672G>C (n.*1672G>C)
c.2464G>C (p.Glu822Gln)
c.1744G>C (p.Glu582Gln)
c.2395G>C (p.Glu799Gln)
c.1222G>C (p.Glu408Gln)
11g.68157882C>TCA6148010KMT5Bc.2251G>A (p.Glu751Lys)
n.2816G>A
c.*2088G>A (n.*2088G>A)
c.*2131G>A (n.*2131G>A)
c.1948G>A (p.Glu650Lys)
c.*1672G>A (n.*1672G>A)
c.2464G>A (p.Glu822Lys)
c.1744G>A (p.Glu582Lys)
c.2395G>A (p.Glu799Lys)
c.1222G>A (p.Glu408Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157883A=CA1980500116KMT5Bc.2250T= (p.Tyr750=)
n.2815T=
c.*2087T= (n.*2087T=)
c.*2130T= (n.*2130T=)
c.1947T= (p.Tyr649=)
c.*1671T= (n.*1671T=)
c.2463T= (p.Tyr821=)
c.1743T= (p.Tyr581=)
c.2394T= (p.Tyr798=)
c.1221T= (p.Tyr407=)
11g.68157883A>CCA381586972KMT5Bc.2250T>G (p.Tyr750Ter)
n.2815T>G
c.*2087T>G (n.*2087T>G)
c.*2130T>G (n.*2130T>G)
c.1947T>G (p.Tyr649Ter)
c.*1671T>G (n.*1671T>G)
c.2463T>G (p.Tyr821Ter)
c.1743T>G (p.Tyr581Ter)
c.2394T>G (p.Tyr798Ter)
c.1221T>G (p.Tyr407Ter)
11g.68157883A>GCA475514672KMT5Bc.2250T>C (p.Tyr750=)
n.2815T>C
c.*2087T>C (n.*2087T>C)
c.*2130T>C (n.*2130T>C)
c.1947T>C (p.Tyr649=)
c.*1671T>C (n.*1671T>C)
c.2463T>C (p.Tyr821=)
c.1743T>C (p.Tyr581=)
c.2394T>C (p.Tyr798=)
c.1221T>C (p.Tyr407=)
dbSNP gnomAD v2 gnomAD v4
11g.68157883A>TCA381586975KMT5Bc.2250T>A (p.Tyr750Ter)
n.2815T>A
c.*2087T>A (n.*2087T>A)
c.*2130T>A (n.*2130T>A)
c.1947T>A (p.Tyr649Ter)
c.*1671T>A (n.*1671T>A)
c.2463T>A (p.Tyr821Ter)
c.1743T>A (p.Tyr581Ter)
c.2394T>A (p.Tyr798Ter)
c.1221T>A (p.Tyr407Ter)
11g.68157884T>ACA381586978KMT5Bc.2249A>T (p.Tyr750Phe)
n.2814A>T
c.*2086A>T (n.*2086A>T)
c.*2129A>T (n.*2129A>T)
c.1946A>T (p.Tyr649Phe)
c.*1670A>T (n.*1670A>T)
c.2462A>T (p.Tyr821Phe)
c.1742A>T (p.Tyr581Phe)
c.2393A>T (p.Tyr798Phe)
c.1220A>T (p.Tyr407Phe)
11g.68157884T>CCA381586983KMT5Bc.2249A>G (p.Tyr750Cys)
n.2814A>G
c.*2086A>G (n.*2086A>G)
c.*2129A>G (n.*2129A>G)
c.1946A>G (p.Tyr649Cys)
c.*1670A>G (n.*1670A>G)
c.2462A>G (p.Tyr821Cys)
c.1742A>G (p.Tyr581Cys)
c.2393A>G (p.Tyr798Cys)
c.1220A>G (p.Tyr407Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68157884T>GCA381586988KMT5Bc.2249A>C (p.Tyr750Ser)
n.2814A>C
c.*2086A>C (n.*2086A>C)
c.*2129A>C (n.*2129A>C)
c.1946A>C (p.Tyr649Ser)
c.*1670A>C (n.*1670A>C)
c.2462A>C (p.Tyr821Ser)
c.1742A>C (p.Tyr581Ser)
c.2393A>C (p.Tyr798Ser)
c.1220A>C (p.Tyr407Ser)
11g.68157884T=CA1980500121KMT5Bc.2249A= (p.Tyr750=)
n.2814A=
c.*2086A= (n.*2086A=)
c.*2129A= (n.*2129A=)
c.1946A= (p.Tyr649=)
c.*1670A= (n.*1670A=)
c.2462A= (p.Tyr821=)
c.1742A= (p.Tyr581=)
c.2393A= (p.Tyr798=)
c.1220A= (p.Tyr407=)
11g.68157885A=CA1980500126KMT5Bc.2248T= (p.Tyr750=)
n.2813T=
c.*2085T= (n.*2085T=)
c.*2128T= (n.*2128T=)
c.1945T= (p.Tyr649=)
c.*1669T= (n.*1669T=)
c.2461T= (p.Tyr821=)
c.1741T= (p.Tyr581=)
c.2392T= (p.Tyr798=)
c.1219T= (p.Tyr407=)
11g.68157885A>CCA381587001KMT5Bc.2248T>G (p.Tyr750Asp)
n.2813T>G
c.*2085T>G (n.*2085T>G)
c.*2128T>G (n.*2128T>G)
c.1945T>G (p.Tyr649Asp)
c.*1669T>G (n.*1669T>G)
c.2461T>G (p.Tyr821Asp)
c.1741T>G (p.Tyr581Asp)
c.2392T>G (p.Tyr798Asp)
c.1219T>G (p.Tyr407Asp)
11g.68157885A>GCA381586994KMT5Bc.2248T>C (p.Tyr750His)
n.2813T>C
c.*2085T>C (n.*2085T>C)
c.*2128T>C (n.*2128T>C)
c.1945T>C (p.Tyr649His)
c.*1669T>C (n.*1669T>C)
c.2461T>C (p.Tyr821His)
c.1741T>C (p.Tyr581His)
c.2392T>C (p.Tyr798His)
c.1219T>C (p.Tyr407His)
dbSNP gnomAD v4
11g.68157885A>TCA381586997KMT5Bc.2248T>A (p.Tyr750Asn)
n.2813T>A
c.*2085T>A (n.*2085T>A)
c.*2128T>A (n.*2128T>A)
c.1945T>A (p.Tyr649Asn)
c.*1669T>A (n.*1669T>A)
c.2461T>A (p.Tyr821Asn)
c.1741T>A (p.Tyr581Asn)
c.2392T>A (p.Tyr798Asn)
c.1219T>A (p.Tyr407Asn)
dbSNP gnomAD v2
11g.68157886C>ACA381587007KMT5Bc.2247G>T (p.Gln749His)
n.2812G>T
c.*2084G>T (n.*2084G>T)
c.*2127G>T (n.*2127G>T)
c.1944G>T (p.Gln648His)
c.*1668G>T (n.*1668G>T)
c.2460G>T (p.Gln820His)
c.1740G>T (p.Gln580His)
c.2391G>T (p.Gln797His)
c.1218G>T (p.Gln406His)
11g.68157886C>GCA381587011KMT5Bc.2247G>C (p.Gln749His)
n.2812G>C
c.*2084G>C (n.*2084G>C)
c.*2127G>C (n.*2127G>C)
c.1944G>C (p.Gln648His)
c.*1668G>C (n.*1668G>C)
c.2460G>C (p.Gln820His)
c.1740G>C (p.Gln580His)
c.2391G>C (p.Gln797His)
c.1218G>C (p.Gln406His)
11g.68157886C>TCA475514673KMT5Bc.2247G>A (p.Gln749=)
n.2812G>A
c.*2084G>A (n.*2084G>A)
c.*2127G>A (n.*2127G>A)
c.1944G>A (p.Gln648=)
c.*1668G>A (n.*1668G>A)
c.2460G>A (p.Gln820=)
c.1740G>A (p.Gln580=)
c.2391G>A (p.Gln797=)
c.1218G>A (p.Gln406=)
11g.68157887T>ACA381587013KMT5Bc.2246A>T (p.Gln749Leu)
n.2811A>T
c.*2083A>T (n.*2083A>T)
c.*2126A>T (n.*2126A>T)
c.1943A>T (p.Gln648Leu)
c.*1667A>T (n.*1667A>T)
c.2459A>T (p.Gln820Leu)
c.1739A>T (p.Gln580Leu)
c.2390A>T (p.Gln797Leu)
c.1217A>T (p.Gln406Leu)
dbSNP gnomAD v2 gnomAD v4
11g.68157887T>CCA6148011KMT5Bc.2246A>G (p.Gln749Arg)
n.2811A>G
c.*2083A>G (n.*2083A>G)
c.*2126A>G (n.*2126A>G)
c.1943A>G (p.Gln648Arg)
c.*1667A>G (n.*1667A>G)
c.2459A>G (p.Gln820Arg)
c.1739A>G (p.Gln580Arg)
c.2390A>G (p.Gln797Arg)
c.1217A>G (p.Gln406Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157887T>GCA381587017KMT5Bc.2246A>C (p.Gln749Pro)
n.2811A>C
c.*2083A>C (n.*2083A>C)
c.*2126A>C (n.*2126A>C)
c.1943A>C (p.Gln648Pro)
c.*1667A>C (n.*1667A>C)
c.2459A>C (p.Gln820Pro)
c.1739A>C (p.Gln580Pro)
c.2390A>C (p.Gln797Pro)
c.1217A>C (p.Gln406Pro)
gnomAD v4
11g.68157887T=CA1980500130KMT5Bc.2246A= (p.Gln749=)
n.2811A=
c.*2083A= (n.*2083A=)
c.*2126A= (n.*2126A=)
c.1943A= (p.Gln648=)
c.*1667A= (n.*1667A=)
c.2459A= (p.Gln820=)
c.1739A= (p.Gln580=)
c.2390A= (p.Gln797=)
c.1217A= (p.Gln406=)
11g.68157888G>ACA381587025KMT5Bc.2245C>T (p.Gln749Ter)
n.2810C>T
c.*2082C>T (n.*2082C>T)
c.*2125C>T (n.*2125C>T)
c.1942C>T (p.Gln648Ter)
c.*1666C>T (n.*1666C>T)
c.2458C>T (p.Gln820Ter)
c.1738C>T (p.Gln580Ter)
c.2389C>T (p.Gln797Ter)
c.1216C>T (p.Gln406Ter)
11g.68157888G>CCA381587023KMT5Bc.2245C>G (p.Gln749Glu)
n.2810C>G
c.*2082C>G (n.*2082C>G)
c.*2125C>G (n.*2125C>G)
c.1942C>G (p.Gln648Glu)
c.*1666C>G (n.*1666C>G)
c.2458C>G (p.Gln820Glu)
c.1738C>G (p.Gln580Glu)
c.2389C>G (p.Gln797Glu)
c.1216C>G (p.Gln406Glu)
11g.68157888G>TCA381587021KMT5Bc.2245C>A (p.Gln749Lys)
n.2810C>A
c.*2082C>A (n.*2082C>A)
c.*2125C>A (n.*2125C>A)
c.1942C>A (p.Gln648Lys)
c.*1666C>A (n.*1666C>A)
c.2458C>A (p.Gln820Lys)
c.1738C>A (p.Gln580Lys)
c.2389C>A (p.Gln797Lys)
c.1216C>A (p.Gln406Lys)
11g.68157889A>CCA381587026KMT5Bc.2244T>G (p.Ser748Arg)
n.2809T>G
c.*2081T>G (n.*2081T>G)
c.*2124T>G (n.*2124T>G)
c.1941T>G (p.Ser647Arg)
c.*1665T>G (n.*1665T>G)
c.2457T>G (p.Ser819Arg)
c.1737T>G (p.Ser579Arg)
c.2388T>G (p.Ser796Arg)
c.1215T>G (p.Ser405Arg)
11g.68157889A>GCA475514677KMT5Bc.2244T>C (p.Ser748=)
n.2809T>C
c.*2081T>C (n.*2081T>C)
c.*2124T>C (n.*2124T>C)
c.1941T>C (p.Ser647=)
c.*1665T>C (n.*1665T>C)
c.2457T>C (p.Ser819=)
c.1737T>C (p.Ser579=)
c.2388T>C (p.Ser796=)
c.1215T>C (p.Ser405=)
11g.68157889A>TCA381587029KMT5Bc.2244T>A (p.Ser748Arg)
n.2809T>A
c.*2081T>A (n.*2081T>A)
c.*2124T>A (n.*2124T>A)
c.1941T>A (p.Ser647Arg)
c.*1665T>A (n.*1665T>A)
c.2457T>A (p.Ser819Arg)
c.1737T>A (p.Ser579Arg)
c.2388T>A (p.Ser796Arg)
c.1215T>A (p.Ser405Arg)
11g.68157890C>ACA381587032KMT5Bc.2243G>T (p.Ser748Ile)
n.2808G>T
c.*2080G>T (n.*2080G>T)
c.*2123G>T (n.*2123G>T)
c.1940G>T (p.Ser647Ile)
c.*1664G>T (n.*1664G>T)
c.2456G>T (p.Ser819Ile)
c.1736G>T (p.Ser579Ile)
c.2387G>T (p.Ser796Ile)
c.1214G>T (p.Ser405Ile)
11g.68157890C>GCA381587037KMT5Bc.2243G>C (p.Ser748Thr)
n.2808G>C
c.*2080G>C (n.*2080G>C)
c.*2123G>C (n.*2123G>C)
c.1940G>C (p.Ser647Thr)
c.*1664G>C (n.*1664G>C)
c.2456G>C (p.Ser819Thr)
c.1736G>C (p.Ser579Thr)
c.2387G>C (p.Ser796Thr)
c.1214G>C (p.Ser405Thr)
11g.68157890C>TCA381587035KMT5Bc.2243G>A (p.Ser748Asn)
n.2808G>A
c.*2080G>A (n.*2080G>A)
c.*2123G>A (n.*2123G>A)
c.1940G>A (p.Ser647Asn)
c.*1664G>A (n.*1664G>A)
c.2456G>A (p.Ser819Asn)
c.1736G>A (p.Ser579Asn)
c.2387G>A (p.Ser796Asn)
c.1214G>A (p.Ser405Asn)
11g.68157891T>ACA381587044KMT5Bc.2242A>T (p.Ser748Cys)
n.2807A>T
c.*2079A>T (n.*2079A>T)
c.*2122A>T (n.*2122A>T)
c.1939A>T (p.Ser647Cys)
c.*1663A>T (n.*1663A>T)
c.2455A>T (p.Ser819Cys)
c.1735A>T (p.Ser579Cys)
c.2386A>T (p.Ser796Cys)
c.1213A>T (p.Ser405Cys)
11g.68157891T>CCA381587047KMT5Bc.2242A>G (p.Ser748Gly)
n.2807A>G
c.*2079A>G (n.*2079A>G)
c.*2122A>G (n.*2122A>G)
c.1939A>G (p.Ser647Gly)
c.*1663A>G (n.*1663A>G)
c.2455A>G (p.Ser819Gly)
c.1735A>G (p.Ser579Gly)
c.2386A>G (p.Ser796Gly)
c.1213A>G (p.Ser405Gly)
11g.68157891T>GCA381587045KMT5Bc.2242A>C (p.Ser748Arg)
n.2807A>C
c.*2079A>C (n.*2079A>C)
c.*2122A>C (n.*2122A>C)
c.1939A>C (p.Ser647Arg)
c.*1663A>C (n.*1663A>C)
c.2455A>C (p.Ser819Arg)
c.1735A>C (p.Ser579Arg)
c.2386A>C (p.Ser796Arg)
c.1213A>C (p.Ser405Arg)
11g.68157893_68157894delCA2695214892KMT5Bc.2241_2242del (p.Tyr747Ter)
n.2806_2807del
c.*2078_*2079del (n.*2078_*2079del)
c.*2121_*2122del (n.*2121_*2122del)
c.1938_1939del (p.Tyr646Ter)
c.*1662_*1663del (n.*1662_*1663del)
c.2454_2455del (p.Tyr818Ter)
c.1734_1735del (p.Tyr578Ter)
c.2385_2386del (p.Tyr795Ter)
c.1212_1213del (p.Tyr404Ter)
11g.68157892A=CA1980500134KMT5Bc.2241T= (p.Tyr747=)
n.2806T=
c.*2078T= (n.*2078T=)
c.*2121T= (n.*2121T=)
c.1938T= (p.Tyr646=)
c.*1662T= (n.*1662T=)
c.2454T= (p.Tyr818=)
c.1734T= (p.Tyr578=)
c.2385T= (p.Tyr795=)
c.1212T= (p.Tyr404=)
11g.68157892A>CCA381587050KMT5Bc.2241T>G (p.Tyr747Ter)
n.2806T>G
c.*2078T>G (n.*2078T>G)
c.*2121T>G (n.*2121T>G)
c.1938T>G (p.Tyr646Ter)
c.*1662T>G (n.*1662T>G)
c.2454T>G (p.Tyr818Ter)
c.1734T>G (p.Tyr578Ter)
c.2385T>G (p.Tyr795Ter)
c.1212T>G (p.Tyr404Ter)
11g.68157892A>GCA475514679KMT5Bc.2241T>C (p.Tyr747=)
n.2806T>C
c.*2078T>C (n.*2078T>C)
c.*2121T>C (n.*2121T>C)
c.1938T>C (p.Tyr646=)
c.*1662T>C (n.*1662T>C)
c.2454T>C (p.Tyr818=)
c.1734T>C (p.Tyr578=)
c.2385T>C (p.Tyr795=)
c.1212T>C (p.Tyr404=)
dbSNP gnomAD v2 gnomAD v4
11g.68157892A>TCA381587053KMT5Bc.2241T>A (p.Tyr747Ter)
n.2806T>A
c.*2078T>A (n.*2078T>A)
c.*2121T>A (n.*2121T>A)
c.1938T>A (p.Tyr646Ter)
c.*1662T>A (n.*1662T>A)
c.2454T>A (p.Tyr818Ter)
c.1734T>A (p.Tyr578Ter)
c.2385T>A (p.Tyr795Ter)
c.1212T>A (p.Tyr404Ter)
11g.68157893T>ACA381587056KMT5Bc.2240A>T (p.Tyr747Phe)
n.2805A>T
c.*2077A>T (n.*2077A>T)
c.*2120A>T (n.*2120A>T)
c.1937A>T (p.Tyr646Phe)
c.*1661A>T (n.*1661A>T)
c.2453A>T (p.Tyr818Phe)
c.1733A>T (p.Tyr578Phe)
c.2384A>T (p.Tyr795Phe)
c.1211A>T (p.Tyr404Phe)
11g.68157893T>CCA381587057KMT5Bc.2240A>G (p.Tyr747Cys)
n.2805A>G
c.*2077A>G (n.*2077A>G)
c.*2120A>G (n.*2120A>G)
c.1937A>G (p.Tyr646Cys)
c.*1661A>G (n.*1661A>G)
c.2453A>G (p.Tyr818Cys)
c.1733A>G (p.Tyr578Cys)
c.2384A>G (p.Tyr795Cys)
c.1211A>G (p.Tyr404Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68157893T>GCA381587060KMT5Bc.2240A>C (p.Tyr747Ser)
n.2805A>C
c.*2077A>C (n.*2077A>C)
c.*2120A>C (n.*2120A>C)
c.1937A>C (p.Tyr646Ser)
c.*1661A>C (n.*1661A>C)
c.2453A>C (p.Tyr818Ser)
c.1733A>C (p.Tyr578Ser)
c.2384A>C (p.Tyr795Ser)
c.1211A>C (p.Tyr404Ser)
11g.68157893T=CA1980500137KMT5Bc.2240A= (p.Tyr747=)
n.2805A=
c.*2077A= (n.*2077A=)
c.*2120A= (n.*2120A=)
c.1937A= (p.Tyr646=)
c.*1661A= (n.*1661A=)
c.2453A= (p.Tyr818=)
c.1733A= (p.Tyr578=)
c.2384A= (p.Tyr795=)
c.1211A= (p.Tyr404=)
11g.68157894A>CCA381587063KMT5Bc.2239T>G (p.Tyr747Asp)
n.2804T>G
c.*2076T>G (n.*2076T>G)
c.*2119T>G (n.*2119T>G)
c.1936T>G (p.Tyr646Asp)
c.*1660T>G (n.*1660T>G)
c.2452T>G (p.Tyr818Asp)
c.1732T>G (p.Tyr578Asp)
c.2383T>G (p.Tyr795Asp)
c.1210T>G (p.Tyr404Asp)
11g.68157894A>GCA381587066KMT5Bc.2239T>C (p.Tyr747His)
n.2804T>C
c.*2076T>C (n.*2076T>C)
c.*2119T>C (n.*2119T>C)
c.1936T>C (p.Tyr646His)
c.*1660T>C (n.*1660T>C)
c.2452T>C (p.Tyr818His)
c.1732T>C (p.Tyr578His)
c.2383T>C (p.Tyr795His)
c.1210T>C (p.Tyr404His)
gnomAD v4 COSMIC COSMIC
11g.68157894A>TCA381587068KMT5Bc.2239T>A (p.Tyr747Asn)
n.2804T>A
c.*2076T>A (n.*2076T>A)
c.*2119T>A (n.*2119T>A)
c.1936T>A (p.Tyr646Asn)
c.*1660T>A (n.*1660T>A)
c.2452T>A (p.Tyr818Asn)
c.1732T>A (p.Tyr578Asn)
c.2383T>A (p.Tyr795Asn)
c.1210T>A (p.Tyr404Asn)
11g.68157895G>ACA475514681KMT5Bc.2238C>T (p.Asp746=)
n.2803C>T
c.*2075C>T (n.*2075C>T)
c.*2118C>T (n.*2118C>T)
c.1935C>T (p.Asp645=)
c.*1659C>T (n.*1659C>T)
c.2451C>T (p.Asp817=)
c.1731C>T (p.Asp577=)
c.2382C>T (p.Asp794=)
c.1209C>T (p.Asp403=)
dbSNP
11g.68157895G>CCA381587071KMT5Bc.2238C>G (p.Asp746Glu)
n.2803C>G
c.*2075C>G (n.*2075C>G)
c.*2118C>G (n.*2118C>G)
c.1935C>G (p.Asp645Glu)
c.*1659C>G (n.*1659C>G)
c.2451C>G (p.Asp817Glu)
c.1731C>G (p.Asp577Glu)
c.2382C>G (p.Asp794Glu)
c.1209C>G (p.Asp403Glu)
gnomAD v4
11g.68157895G=CA1980500138KMT5Bc.2238C= (p.Asp746=)
n.2803C=
c.*2075C= (n.*2075C=)
c.*2118C= (n.*2118C=)
c.1935C= (p.Asp645=)
c.*1659C= (n.*1659C=)
c.2451C= (p.Asp817=)
c.1731C= (p.Asp577=)
c.2382C= (p.Asp794=)
c.1209C= (p.Asp403=)
11g.68157895G>TCA381587074KMT5Bc.2238C>A (p.Asp746Glu)
n.2803C>A
c.*2075C>A (n.*2075C>A)
c.*2118C>A (n.*2118C>A)
c.1935C>A (p.Asp645Glu)
c.*1659C>A (n.*1659C>A)
c.2451C>A (p.Asp817Glu)
c.1731C>A (p.Asp577Glu)
c.2382C>A (p.Asp794Glu)
c.1209C>A (p.Asp403Glu)
11g.68157896T>ACA381587082KMT5Bc.2237A>T (p.Asp746Val)
n.2802A>T
c.*2074A>T (n.*2074A>T)
c.*2117A>T (n.*2117A>T)
c.1934A>T (p.Asp645Val)
c.*1658A>T (n.*1658A>T)
c.2450A>T (p.Asp817Val)
c.1730A>T (p.Asp577Val)
c.2381A>T (p.Asp794Val)
c.1208A>T (p.Asp403Val)
11g.68157896T>CCA381587079KMT5Bc.2237A>G (p.Asp746Gly)
n.2802A>G
c.*2074A>G (n.*2074A>G)
c.*2117A>G (n.*2117A>G)
c.1934A>G (p.Asp645Gly)
c.*1658A>G (n.*1658A>G)
c.2450A>G (p.Asp817Gly)
c.1730A>G (p.Asp577Gly)
c.2381A>G (p.Asp794Gly)
c.1208A>G (p.Asp403Gly)
11g.68157896T>GCA381587077KMT5Bc.2237A>C (p.Asp746Ala)
n.2802A>C
c.*2074A>C (n.*2074A>C)
c.*2117A>C (n.*2117A>C)
c.1934A>C (p.Asp645Ala)
c.*1658A>C (n.*1658A>C)
c.2450A>C (p.Asp817Ala)
c.1730A>C (p.Asp577Ala)
c.2381A>C (p.Asp794Ala)
c.1208A>C (p.Asp403Ala)
11g.68157897C>ACA381587084KMT5Bc.2236G>T (p.Asp746Tyr)
n.2801G>T
c.*2073G>T (n.*2073G>T)
c.*2116G>T (n.*2116G>T)
c.1933G>T (p.Asp645Tyr)
c.*1657G>T (n.*1657G>T)
c.2449G>T (p.Asp817Tyr)
c.1729G>T (p.Asp577Tyr)
c.2380G>T (p.Asp794Tyr)
c.1207G>T (p.Asp403Tyr)
11g.68157897C>GCA381587087KMT5Bc.2236G>C (p.Asp746His)
n.2801G>C
c.*2073G>C (n.*2073G>C)
c.*2116G>C (n.*2116G>C)
c.1933G>C (p.Asp645His)
c.*1657G>C (n.*1657G>C)
c.2449G>C (p.Asp817His)
c.1729G>C (p.Asp577His)
c.2380G>C (p.Asp794His)
c.1207G>C (p.Asp403His)
11g.68157897C>TCA381587089KMT5Bc.2236G>A (p.Asp746Asn)
n.2801G>A
c.*2073G>A (n.*2073G>A)
c.*2116G>A (n.*2116G>A)
c.1933G>A (p.Asp645Asn)
c.*1657G>A (n.*1657G>A)
c.2449G>A (p.Asp817Asn)
c.1729G>A (p.Asp577Asn)
c.2380G>A (p.Asp794Asn)
c.1207G>A (p.Asp403Asn)
gnomAD v4
11g.68157898A>CCA381587091KMT5Bc.2235T>G (p.Asp745Glu)
n.2800T>G
c.*2072T>G (n.*2072T>G)
c.*2115T>G (n.*2115T>G)
c.1932T>G (p.Asp644Glu)
c.*1656T>G (n.*1656T>G)
c.2448T>G (p.Asp816Glu)
c.1728T>G (p.Asp576Glu)
c.2379T>G (p.Asp793Glu)
c.1206T>G (p.Asp402Glu)
11g.68157898A>GCA475514685KMT5Bc.2235T>C (p.Asp745=)
n.2800T>C
c.*2072T>C (n.*2072T>C)
c.*2115T>C (n.*2115T>C)
c.1932T>C (p.Asp644=)
c.*1656T>C (n.*1656T>C)
c.2448T>C (p.Asp816=)
c.1728T>C (p.Asp576=)
c.2379T>C (p.Asp793=)
c.1206T>C (p.Asp402=)
11g.68157898A>TCA381587093KMT5Bc.2235T>A (p.Asp745Glu)
n.2800T>A
c.*2072T>A (n.*2072T>A)
c.*2115T>A (n.*2115T>A)
c.1932T>A (p.Asp644Glu)
c.*1656T>A (n.*1656T>A)
c.2448T>A (p.Asp816Glu)
c.1728T>A (p.Asp576Glu)
c.2379T>A (p.Asp793Glu)
c.1206T>A (p.Asp402Glu)
11g.68157899T>ACA381587097KMT5Bc.2234A>T (p.Asp745Val)
n.2799A>T
c.*2071A>T (n.*2071A>T)
c.*2114A>T (n.*2114A>T)
c.1931A>T (p.Asp644Val)
c.*1655A>T (n.*1655A>T)
c.2447A>T (p.Asp816Val)
c.1727A>T (p.Asp576Val)
c.2378A>T (p.Asp793Val)
c.1205A>T (p.Asp402Val)
11g.68157899T>CCA381587099KMT5Bc.2234A>G (p.Asp745Gly)
n.2799A>G
c.*2071A>G (n.*2071A>G)
c.*2114A>G (n.*2114A>G)
c.1931A>G (p.Asp644Gly)
c.*1655A>G (n.*1655A>G)
c.2447A>G (p.Asp816Gly)
c.1727A>G (p.Asp576Gly)
c.2378A>G (p.Asp793Gly)
c.1205A>G (p.Asp402Gly)
11g.68157899T>GCA381587101KMT5Bc.2234A>C (p.Asp745Ala)
n.2799A>C
c.*2071A>C (n.*2071A>C)
c.*2114A>C (n.*2114A>C)
c.1931A>C (p.Asp644Ala)
c.*1655A>C (n.*1655A>C)
c.2447A>C (p.Asp816Ala)
c.1727A>C (p.Asp576Ala)
c.2378A>C (p.Asp793Ala)
c.1205A>C (p.Asp402Ala)
11g.68157900C>ACA381587104KMT5Bc.2233G>T (p.Asp745Tyr)
n.2798G>T
c.*2070G>T (n.*2070G>T)
c.*2113G>T (n.*2113G>T)
c.1930G>T (p.Asp644Tyr)
c.*1654G>T (n.*1654G>T)
c.2446G>T (p.Asp816Tyr)
c.1726G>T (p.Asp576Tyr)
c.2377G>T (p.Asp793Tyr)
c.1204G>T (p.Asp402Tyr)
11g.68157900C>GCA381587106KMT5Bc.2233G>C (p.Asp745His)
n.2798G>C
c.*2070G>C (n.*2070G>C)
c.*2113G>C (n.*2113G>C)
c.1930G>C (p.Asp644His)
c.*1654G>C (n.*1654G>C)
c.2446G>C (p.Asp816His)
c.1726G>C (p.Asp576His)
c.2377G>C (p.Asp793His)
c.1204G>C (p.Asp402His)
11g.68157900C>TCA381587109KMT5Bc.2233G>A (p.Asp745Asn)
n.2798G>A
c.*2070G>A (n.*2070G>A)
c.*2113G>A (n.*2113G>A)
c.1930G>A (p.Asp644Asn)
c.*1654G>A (n.*1654G>A)
c.2446G>A (p.Asp816Asn)
c.1726G>A (p.Asp576Asn)
c.2377G>A (p.Asp793Asn)
c.1204G>A (p.Asp402Asn)
11g.68157901C>ACA475514689KMT5Bc.2232G>T (p.Val744=)
n.2797G>T
c.*2069G>T (n.*2069G>T)
c.*2112G>T (n.*2112G>T)
c.1929G>T (p.Val643=)
c.*1653G>T (n.*1653G>T)
c.2445G>T (p.Val815=)
c.1725G>T (p.Val575=)
c.2376G>T (p.Val792=)
c.1203G>T (p.Val401=)
11g.68157901C>GCA475514690KMT5Bc.2232G>C (p.Val744=)
n.2797G>C
c.*2069G>C (n.*2069G>C)
c.*2112G>C (n.*2112G>C)
c.1929G>C (p.Val643=)
c.*1653G>C (n.*1653G>C)
c.2445G>C (p.Val815=)
c.1725G>C (p.Val575=)
c.2376G>C (p.Val792=)
c.1203G>C (p.Val401=)
11g.68157901C>TCA475514691KMT5Bc.2232G>A (p.Val744=)
n.2797G>A
c.*2069G>A (n.*2069G>A)
c.*2112G>A (n.*2112G>A)
c.1929G>A (p.Val643=)
c.*1653G>A (n.*1653G>A)
c.2445G>A (p.Val815=)
c.1725G>A (p.Val575=)
c.2376G>A (p.Val792=)
c.1203G>A (p.Val401=)
11g.68157902A>CCA381587114KMT5Bc.2231T>G (p.Val744Gly)
n.2796T>G
c.*2068T>G (n.*2068T>G)
c.*2111T>G (n.*2111T>G)
c.1928T>G (p.Val643Gly)
c.*1652T>G (n.*1652T>G)
c.2444T>G (p.Val815Gly)
c.1724T>G (p.Val575Gly)
c.2375T>G (p.Val792Gly)
c.1202T>G (p.Val401Gly)
11g.68157902A>GCA381587117KMT5Bc.2231T>C (p.Val744Ala)
n.2796T>C
c.*2068T>C (n.*2068T>C)
c.*2111T>C (n.*2111T>C)
c.1928T>C (p.Val643Ala)
c.*1652T>C (n.*1652T>C)
c.2444T>C (p.Val815Ala)
c.1724T>C (p.Val575Ala)
c.2375T>C (p.Val792Ala)
c.1202T>C (p.Val401Ala)
11g.68157902A>TCA381587112KMT5Bc.2231T>A (p.Val744Glu)
n.2796T>A
c.*2068T>A (n.*2068T>A)
c.*2111T>A (n.*2111T>A)
c.1928T>A (p.Val643Glu)
c.*1652T>A (n.*1652T>A)
c.2444T>A (p.Val815Glu)
c.1724T>A (p.Val575Glu)
c.2375T>A (p.Val792Glu)
c.1202T>A (p.Val401Glu)
11g.68157903C>ACA381587118KMT5Bc.2230G>T (p.Val744Leu)
n.2795G>T
c.*2067G>T (n.*2067G>T)
c.*2110G>T (n.*2110G>T)
c.1927G>T (p.Val643Leu)
c.*1651G>T (n.*1651G>T)
c.2443G>T (p.Val815Leu)
c.1723G>T (p.Val575Leu)
c.2374G>T (p.Val792Leu)
c.1201G>T (p.Val401Leu)
11g.68157903C=CA1980500143KMT5Bc.2230G= (p.Val744=)
n.2795G=
c.*2067G= (n.*2067G=)
c.*2110G= (n.*2110G=)
c.1927G= (p.Val643=)
c.*1651G= (n.*1651G=)
c.2443G= (p.Val815=)
c.1723G= (p.Val575=)
c.2374G= (p.Val792=)
c.1201G= (p.Val401=)
11g.68157903C>GCA381587121KMT5Bc.2230G>C (p.Val744Leu)
n.2795G>C
c.*2067G>C (n.*2067G>C)
c.*2110G>C (n.*2110G>C)
c.1927G>C (p.Val643Leu)
c.*1651G>C (n.*1651G>C)
c.2443G>C (p.Val815Leu)
c.1723G>C (p.Val575Leu)
c.2374G>C (p.Val792Leu)
c.1201G>C (p.Val401Leu)
11g.68157903C>TCA381587123KMT5Bc.2230G>A (p.Val744Met)
n.2795G>A
c.*2067G>A (n.*2067G>A)
c.*2110G>A (n.*2110G>A)
c.1927G>A (p.Val643Met)
c.*1651G>A (n.*1651G>A)
c.2443G>A (p.Val815Met)
c.1723G>A (p.Val575Met)
c.2374G>A (p.Val792Met)
c.1201G>A (p.Val401Met)
dbSNP gnomAD v2 gnomAD v4
11g.68157904C>ACA381587125KMT5Bc.2229G>T (p.Glu743Asp)
n.2794G>T
c.*2066G>T (n.*2066G>T)
c.*2109G>T (n.*2109G>T)
c.1926G>T (p.Glu642Asp)
c.*1650G>T (n.*1650G>T)
c.2442G>T (p.Glu814Asp)
c.1722G>T (p.Glu574Asp)
c.2373G>T (p.Glu791Asp)
c.1200G>T (p.Glu400Asp)
11g.68157904C=CA1980500150KMT5Bc.2229G= (p.Glu743=)
n.2794G=
c.*2066G= (n.*2066G=)
c.*2109G= (n.*2109G=)
c.1926G= (p.Glu642=)
c.*1650G= (n.*1650G=)
c.2442G= (p.Glu814=)
c.1722G= (p.Glu574=)
c.2373G= (p.Glu791=)
c.1200G= (p.Glu400=)
11g.68157904C>GCA381587128KMT5Bc.2229G>C (p.Glu743Asp)
n.2794G>C
c.*2066G>C (n.*2066G>C)
c.*2109G>C (n.*2109G>C)
c.1926G>C (p.Glu642Asp)
c.*1650G>C (n.*1650G>C)
c.2442G>C (p.Glu814Asp)
c.1722G>C (p.Glu574Asp)
c.2373G>C (p.Glu791Asp)
c.1200G>C (p.Glu400Asp)
gnomAD v4
11g.68157904C>TCA475514693KMT5Bc.2229G>A (p.Glu743=)
n.2794G>A
c.*2066G>A (n.*2066G>A)
c.*2109G>A (n.*2109G>A)
c.1926G>A (p.Glu642=)
c.*1650G>A (n.*1650G>A)
c.2442G>A (p.Glu814=)
c.1722G>A (p.Glu574=)
c.2373G>A (p.Glu791=)
c.1200G>A (p.Glu400=)
dbSNP
11g.68157905T>ACA381587132KMT5Bc.2228A>T (p.Glu743Val)
n.2793A>T
c.*2065A>T (n.*2065A>T)
c.*2108A>T (n.*2108A>T)
c.1925A>T (p.Glu642Val)
c.*1649A>T (n.*1649A>T)
c.2441A>T (p.Glu814Val)
c.1721A>T (p.Glu574Val)
c.2372A>T (p.Glu791Val)
c.1199A>T (p.Glu400Val)
11g.68157905T>CCA381587134KMT5Bc.2228A>G (p.Glu743Gly)
n.2793A>G
c.*2065A>G (n.*2065A>G)
c.*2108A>G (n.*2108A>G)
c.1925A>G (p.Glu642Gly)
c.*1649A>G (n.*1649A>G)
c.2441A>G (p.Glu814Gly)
c.1721A>G (p.Glu574Gly)
c.2372A>G (p.Glu791Gly)
c.1199A>G (p.Glu400Gly)
11g.68157905T>GCA381587136KMT5Bc.2228A>C (p.Glu743Ala)
n.2793A>C
c.*2065A>C (n.*2065A>C)
c.*2108A>C (n.*2108A>C)
c.1925A>C (p.Glu642Ala)
c.*1649A>C (n.*1649A>C)
c.2441A>C (p.Glu814Ala)
c.1721A>C (p.Glu574Ala)
c.2372A>C (p.Glu791Ala)
c.1199A>C (p.Glu400Ala)
dbSNP gnomAD v2 gnomAD v4
11g.68157905T=CA1980500156KMT5Bc.2228A= (p.Glu743=)
n.2793A=
c.*2065A= (n.*2065A=)
c.*2108A= (n.*2108A=)
c.1925A= (p.Glu642=)
c.*1649A= (n.*1649A=)
c.2441A= (p.Glu814=)
c.1721A= (p.Glu574=)
c.2372A= (p.Glu791=)
c.1199A= (p.Glu400=)
11g.68157906C>ACA381587139KMT5Bc.2227G>T (p.Glu743Ter)
n.2792G>T
c.*2064G>T (n.*2064G>T)
c.*2107G>T (n.*2107G>T)
c.1924G>T (p.Glu642Ter)
c.*1648G>T (n.*1648G>T)
c.2440G>T (p.Glu814Ter)
c.1720G>T (p.Glu574Ter)
c.2371G>T (p.Glu791Ter)
c.1198G>T (p.Glu400Ter)
11g.68157906C=CA1980500160KMT5Bc.2227G= (p.Glu743=)
n.2792G=
c.*2064G= (n.*2064G=)
c.*2107G= (n.*2107G=)
c.1924G= (p.Glu642=)
c.*1648G= (n.*1648G=)
c.2440G= (p.Glu814=)
c.1720G= (p.Glu574=)
c.2371G= (p.Glu791=)
c.1198G= (p.Glu400=)
11g.68157906C>GCA381587141KMT5Bc.2227G>C (p.Glu743Gln)
n.2792G>C
c.*2064G>C (n.*2064G>C)
c.*2107G>C (n.*2107G>C)
c.1924G>C (p.Glu642Gln)
c.*1648G>C (n.*1648G>C)
c.2440G>C (p.Glu814Gln)
c.1720G>C (p.Glu574Gln)
c.2371G>C (p.Glu791Gln)
c.1198G>C (p.Glu400Gln)
11g.68157906C>TCA6148012KMT5Bc.2227G>A (p.Glu743Lys)
n.2792G>A
c.*2064G>A (n.*2064G>A)
c.*2107G>A (n.*2107G>A)
c.1924G>A (p.Glu642Lys)
c.*1648G>A (n.*1648G>A)
c.2440G>A (p.Glu814Lys)
c.1720G>A (p.Glu574Lys)
c.2371G>A (p.Glu791Lys)
c.1198G>A (p.Glu400Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157907C>ACA381587154KMT5Bc.2226G>T (p.Met742Ile)
n.2791G>T
c.*2063G>T (n.*2063G>T)
c.*2106G>T (n.*2106G>T)
c.1923G>T (p.Met641Ile)
c.*1647G>T (n.*1647G>T)
c.2439G>T (p.Met813Ile)
c.1719G>T (p.Met573Ile)
c.2370G>T (p.Met790Ile)
c.1197G>T (p.Met399Ile)
dbSNP gnomAD v3 gnomAD v4
11g.68157907C=CA1980500167KMT5Bc.2226G= (p.Met742=)
n.2791G=
c.*2063G= (n.*2063G=)
c.*2106G= (n.*2106G=)
c.1923G= (p.Met641=)
c.*1647G= (n.*1647G=)
c.2439G= (p.Met813=)
c.1719G= (p.Met573=)
c.2370G= (p.Met790=)
c.1197G= (p.Met399=)
11g.68157907C>GCA381587157KMT5Bc.2226G>C (p.Met742Ile)
n.2791G>C
c.*2063G>C (n.*2063G>C)
c.*2106G>C (n.*2106G>C)
c.1923G>C (p.Met641Ile)
c.*1647G>C (n.*1647G>C)
c.2439G>C (p.Met813Ile)
c.1719G>C (p.Met573Ile)
c.2370G>C (p.Met790Ile)
c.1197G>C (p.Met399Ile)
11g.68157907C>TCA381587152KMT5Bc.2226G>A (p.Met742Ile)
n.2791G>A
c.*2063G>A (n.*2063G>A)
c.*2106G>A (n.*2106G>A)
c.1923G>A (p.Met641Ile)
c.*1647G>A (n.*1647G>A)
c.2439G>A (p.Met813Ile)
c.1719G>A (p.Met573Ile)
c.2370G>A (p.Met790Ile)
c.1197G>A (p.Met399Ile)
COSMIC COSMIC
11g.68157908A=CA1980500175KMT5Bc.2225T= (p.Met742=)
n.2790T=
c.*2062T= (n.*2062T=)
c.*2105T= (n.*2105T=)
c.1922T= (p.Met641=)
c.*1646T= (n.*1646T=)
c.2438T= (p.Met813=)
c.1718T= (p.Met573=)
c.2369T= (p.Met790=)
c.1196T= (p.Met399=)
11g.68157908A>CCA381587160KMT5Bc.2225T>G (p.Met742Arg)
n.2790T>G
c.*2062T>G (n.*2062T>G)
c.*2105T>G (n.*2105T>G)
c.1922T>G (p.Met641Arg)
c.*1646T>G (n.*1646T>G)
c.2438T>G (p.Met813Arg)
c.1718T>G (p.Met573Arg)
c.2369T>G (p.Met790Arg)
c.1196T>G (p.Met399Arg)
11g.68157908A>GCA381587164KMT5Bc.2225T>C (p.Met742Thr)
n.2790T>C
c.*2062T>C (n.*2062T>C)
c.*2105T>C (n.*2105T>C)
c.1922T>C (p.Met641Thr)
c.*1646T>C (n.*1646T>C)
c.2438T>C (p.Met813Thr)
c.1718T>C (p.Met573Thr)
c.2369T>C (p.Met790Thr)
c.1196T>C (p.Met399Thr)
dbSNP gnomAD v2
11g.68157908A>TCA381587165KMT5Bc.2225T>A (p.Met742Lys)
n.2790T>A
c.*2062T>A (n.*2062T>A)
c.*2105T>A (n.*2105T>A)
c.1922T>A (p.Met641Lys)
c.*1646T>A (n.*1646T>A)
c.2438T>A (p.Met813Lys)
c.1718T>A (p.Met573Lys)
c.2369T>A (p.Met790Lys)
c.1196T>A (p.Met399Lys)
11g.68157909T>ACA381587167KMT5Bc.2224A>T (p.Met742Leu)
n.2789A>T
c.*2061A>T (n.*2061A>T)
c.*2104A>T (n.*2104A>T)
c.1921A>T (p.Met641Leu)
c.*1645A>T (n.*1645A>T)
c.2437A>T (p.Met813Leu)
c.1717A>T (p.Met573Leu)
c.2368A>T (p.Met790Leu)
c.1195A>T (p.Met399Leu)
11g.68157909T>CCA381587168KMT5Bc.2224A>G (p.Met742Val)
n.2789A>G
c.*2061A>G (n.*2061A>G)
c.*2104A>G (n.*2104A>G)
c.1921A>G (p.Met641Val)
c.*1645A>G (n.*1645A>G)
c.2437A>G (p.Met813Val)
c.1717A>G (p.Met573Val)
c.2368A>G (p.Met790Val)
c.1195A>G (p.Met399Val)
11g.68157909T>GCA381587171KMT5Bc.2224A>C (p.Met742Leu)
n.2789A>C
c.*2061A>C (n.*2061A>C)
c.*2104A>C (n.*2104A>C)
c.1921A>C (p.Met641Leu)
c.*1645A>C (n.*1645A>C)
c.2437A>C (p.Met813Leu)
c.1717A>C (p.Met573Leu)
c.2368A>C (p.Met790Leu)
c.1195A>C (p.Met399Leu)
11g.68157910T>ACA475514694KMT5Bc.2223A>T (p.Arg741=)
n.2788A>T
c.*2060A>T (n.*2060A>T)
c.*2103A>T (n.*2103A>T)
c.1920A>T (p.Arg640=)
c.*1644A>T (n.*1644A>T)
c.2436A>T (p.Arg812=)
c.1716A>T (p.Arg572=)
c.2367A>T (p.Arg789=)
c.1194A>T (p.Arg398=)
11g.68157910T>CCA475514696KMT5Bc.2223A>G (p.Arg741=)
n.2788A>G
c.*2060A>G (n.*2060A>G)
c.*2103A>G (n.*2103A>G)
c.1920A>G (p.Arg640=)
c.*1644A>G (n.*1644A>G)
c.2436A>G (p.Arg812=)
c.1716A>G (p.Arg572=)
c.2367A>G (p.Arg789=)
c.1194A>G (p.Arg398=)
11g.68157910T>GCA475514695KMT5Bc.2223A>C (p.Arg741=)
n.2788A>C
c.*2060A>C (n.*2060A>C)
c.*2103A>C (n.*2103A>C)
c.1920A>C (p.Arg640=)
c.*1644A>C (n.*1644A>C)
c.2436A>C (p.Arg812=)
c.1716A>C (p.Arg572=)
c.2367A>C (p.Arg789=)
c.1194A>C (p.Arg398=)
dbSNP gnomAD v2 gnomAD v4
11g.68157910T=CA1980500188KMT5Bc.2223A= (p.Arg741=)
n.2788A=
c.*2060A= (n.*2060A=)
c.*2103A= (n.*2103A=)
c.1920A= (p.Arg640=)
c.*1644A= (n.*1644A=)
c.2436A= (p.Arg812=)
c.1716A= (p.Arg572=)
c.2367A= (p.Arg789=)
c.1194A= (p.Arg398=)
11g.68157911C>ACA381587175KMT5Bc.2222G>T (p.Arg741Leu)
n.2787G>T
c.*2059G>T (n.*2059G>T)
c.*2102G>T (n.*2102G>T)
c.1919G>T (p.Arg640Leu)
c.*1643G>T (n.*1643G>T)
c.2435G>T (p.Arg812Leu)
c.1715G>T (p.Arg572Leu)
c.2366G>T (p.Arg789Leu)
c.1193G>T (p.Arg398Leu)
11g.68157911C=CA1980500193KMT5Bc.2222G= (p.Arg741=)
n.2787G=
c.*2059G= (n.*2059G=)
c.*2102G= (n.*2102G=)
c.1919G= (p.Arg640=)
c.*1643G= (n.*1643G=)
c.2435G= (p.Arg812=)
c.1715G= (p.Arg572=)
c.2366G= (p.Arg789=)
c.1193G= (p.Arg398=)
11g.68157911C>GCA381587178KMT5Bc.2222G>C (p.Arg741Pro)
n.2787G>C
c.*2059G>C (n.*2059G>C)
c.*2102G>C (n.*2102G>C)
c.1919G>C (p.Arg640Pro)
c.*1643G>C (n.*1643G>C)
c.2435G>C (p.Arg812Pro)
c.1715G>C (p.Arg572Pro)
c.2366G>C (p.Arg789Pro)
c.1193G>C (p.Arg398Pro)
ClinVar gnomAD v4
11g.68157911C>TCA6148013KMT5Bc.2222G>A (p.Arg741Gln)
n.2787G>A
c.*2059G>A (n.*2059G>A)
c.*2102G>A (n.*2102G>A)
c.1919G>A (p.Arg640Gln)
c.*1643G>A (n.*1643G>A)
c.2435G>A (p.Arg812Gln)
c.1715G>A (p.Arg572Gln)
c.2366G>A (p.Arg789Gln)
c.1193G>A (p.Arg398Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157912G>ACA381587181KMT5Bc.2221C>T (p.Arg741Ter)
n.2786C>T
c.*2058C>T (n.*2058C>T)
c.*2101C>T (n.*2101C>T)
c.1918C>T (p.Arg640Ter)
c.*1642C>T (n.*1642C>T)
c.2434C>T (p.Arg812Ter)
c.1714C>T (p.Arg572Ter)
c.2365C>T (p.Arg789Ter)
c.1192C>T (p.Arg398Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.68157912G>CCA381587184KMT5Bc.2221C>G (p.Arg741Gly)
n.2786C>G
c.*2058C>G (n.*2058C>G)
c.*2101C>G (n.*2101C>G)
c.1918C>G (p.Arg640Gly)
c.*1642C>G (n.*1642C>G)
c.2434C>G (p.Arg812Gly)
c.1714C>G (p.Arg572Gly)
c.2365C>G (p.Arg789Gly)
c.1192C>G (p.Arg398Gly)
dbSNP gnomAD v3 gnomAD v4
11g.68157912G=CA1980500212KMT5Bc.2221C= (p.Arg741=)
n.2786C=
c.*2058C= (n.*2058C=)
c.*2101C= (n.*2101C=)
c.1918C= (p.Arg640=)
c.*1642C= (n.*1642C=)
c.2434C= (p.Arg812=)
c.1714C= (p.Arg572=)
c.2365C= (p.Arg789=)
c.1192C= (p.Arg398=)
11g.68157912G>TCA475514697KMT5Bc.2221C>A (p.Arg741=)
n.2786C>A
c.*2058C>A (n.*2058C>A)
c.*2101C>A (n.*2101C>A)
c.1918C>A (p.Arg640=)
c.*1642C>A (n.*1642C>A)
c.2434C>A (p.Arg812=)
c.1714C>A (p.Arg572=)
c.2365C>A (p.Arg789=)
c.1192C>A (p.Arg398=)
11g.68157913A>CCA475514698KMT5Bc.2220T>G (p.Ser740=)
n.2785T>G
c.*2057T>G (n.*2057T>G)
c.*2100T>G (n.*2100T>G)
c.1917T>G (p.Ser639=)
c.*1641T>G (n.*1641T>G)
c.2433T>G (p.Ser811=)
c.1713T>G (p.Ser571=)
c.2364T>G (p.Ser788=)
c.1191T>G (p.Ser397=)
11g.68157913A>GCA475514699KMT5Bc.2220T>C (p.Ser740=)
n.2785T>C
c.*2057T>C (n.*2057T>C)
c.*2100T>C (n.*2100T>C)
c.1917T>C (p.Ser639=)
c.*1641T>C (n.*1641T>C)
c.2433T>C (p.Ser811=)
c.1713T>C (p.Ser571=)
c.2364T>C (p.Ser788=)
c.1191T>C (p.Ser397=)
11g.68157913A>TCA475514700KMT5Bc.2220T>A (p.Ser740=)
n.2785T>A
c.*2057T>A (n.*2057T>A)
c.*2100T>A (n.*2100T>A)
c.1917T>A (p.Ser639=)
c.*1641T>A (n.*1641T>A)
c.2433T>A (p.Ser811=)
c.1713T>A (p.Ser571=)
c.2364T>A (p.Ser788=)
c.1191T>A (p.Ser397=)
11g.68157914G>ACA381587186KMT5Bc.2219C>T (p.Ser740Phe)
n.2784C>T
c.*2056C>T (n.*2056C>T)
c.*2099C>T (n.*2099C>T)
c.1916C>T (p.Ser639Phe)
c.*1640C>T (n.*1640C>T)
c.2432C>T (p.Ser811Phe)
c.1712C>T (p.Ser571Phe)
c.2363C>T (p.Ser788Phe)
c.1190C>T (p.Ser397Phe)
11g.68157914G>CCA381587189KMT5Bc.2219C>G (p.Ser740Cys)
n.2784C>G
c.*2056C>G (n.*2056C>G)
c.*2099C>G (n.*2099C>G)
c.1916C>G (p.Ser639Cys)
c.*1640C>G (n.*1640C>G)
c.2432C>G (p.Ser811Cys)
c.1712C>G (p.Ser571Cys)
c.2363C>G (p.Ser788Cys)
c.1190C>G (p.Ser397Cys)
11g.68157914G>TCA381587192KMT5Bc.2219C>A (p.Ser740Tyr)
n.2784C>A
c.*2056C>A (n.*2056C>A)
c.*2099C>A (n.*2099C>A)
c.1916C>A (p.Ser639Tyr)
c.*1640C>A (n.*1640C>A)
c.2432C>A (p.Ser811Tyr)
c.1712C>A (p.Ser571Tyr)
c.2363C>A (p.Ser788Tyr)
c.1190C>A (p.Ser397Tyr)
11g.68157915A>CCA381587198KMT5Bc.2218T>G (p.Ser740Ala)
n.2783T>G
c.*2055T>G (n.*2055T>G)
c.*2098T>G (n.*2098T>G)
c.1915T>G (p.Ser639Ala)
c.*1639T>G (n.*1639T>G)
c.2431T>G (p.Ser811Ala)
c.1711T>G (p.Ser571Ala)
c.2362T>G (p.Ser788Ala)
c.1189T>G (p.Ser397Ala)
11g.68157915A>GCA381587197KMT5Bc.2218T>C (p.Ser740Pro)
n.2783T>C
c.*2055T>C (n.*2055T>C)
c.*2098T>C (n.*2098T>C)
c.1915T>C (p.Ser639Pro)
c.*1639T>C (n.*1639T>C)
c.2431T>C (p.Ser811Pro)
c.1711T>C (p.Ser571Pro)
c.2362T>C (p.Ser788Pro)
c.1189T>C (p.Ser397Pro)
11g.68157915A>TCA381587194KMT5Bc.2218T>A (p.Ser740Thr)
n.2783T>A
c.*2055T>A (n.*2055T>A)
c.*2098T>A (n.*2098T>A)
c.1915T>A (p.Ser639Thr)
c.*1639T>A (n.*1639T>A)
c.2431T>A (p.Ser811Thr)
c.1711T>A (p.Ser571Thr)
c.2362T>A (p.Ser788Thr)
c.1189T>A (p.Ser397Thr)
11g.68157916C>ACA381587200KMT5Bc.2217G>T (p.Glu739Asp)
n.2782G>T
c.*2054G>T (n.*2054G>T)
c.*2097G>T (n.*2097G>T)
c.1914G>T (p.Glu638Asp)
c.*1638G>T (n.*1638G>T)
c.2430G>T (p.Glu810Asp)
c.1710G>T (p.Glu570Asp)
c.2361G>T (p.Glu787Asp)
c.1188G>T (p.Glu396Asp)
dbSNP gnomAD v2 gnomAD v4
11g.68157916C=CA1980500220KMT5Bc.2217G= (p.Glu739=)
n.2782G=
c.*2054G= (n.*2054G=)
c.*2097G= (n.*2097G=)
c.1914G= (p.Glu638=)
c.*1638G= (n.*1638G=)
c.2430G= (p.Glu810=)
c.1710G= (p.Glu570=)
c.2361G= (p.Glu787=)
c.1188G= (p.Glu396=)
11g.68157916C>GCA381587199KMT5Bc.2217G>C (p.Glu739Asp)
n.2782G>C
c.*2054G>C (n.*2054G>C)
c.*2097G>C (n.*2097G>C)
c.1914G>C (p.Glu638Asp)
c.*1638G>C (n.*1638G>C)
c.2430G>C (p.Glu810Asp)
c.1710G>C (p.Glu570Asp)
c.2361G>C (p.Glu787Asp)
c.1188G>C (p.Glu396Asp)
11g.68157916C>TCA475514701KMT5Bc.2217G>A (p.Glu739=)
n.2782G>A
c.*2054G>A (n.*2054G>A)
c.*2097G>A (n.*2097G>A)
c.1914G>A (p.Glu638=)
c.*1638G>A (n.*1638G>A)
c.2430G>A (p.Glu810=)
c.1710G>A (p.Glu570=)
c.2361G>A (p.Glu787=)
c.1188G>A (p.Glu396=)
dbSNP gnomAD v2 gnomAD v4
11g.68157917T>ACA381587201KMT5Bc.2216A>T (p.Glu739Val)
n.2781A>T
c.*2053A>T (n.*2053A>T)
c.*2096A>T (n.*2096A>T)
c.1913A>T (p.Glu638Val)
c.*1637A>T (n.*1637A>T)
c.2429A>T (p.Glu810Val)
c.1709A>T (p.Glu570Val)
c.2360A>T (p.Glu787Val)
c.1187A>T (p.Glu396Val)
11g.68157917T>CCA381587202KMT5Bc.2216A>G (p.Glu739Gly)
n.2781A>G
c.*2053A>G (n.*2053A>G)
c.*2096A>G (n.*2096A>G)
c.1913A>G (p.Glu638Gly)
c.*1637A>G (n.*1637A>G)
c.2429A>G (p.Glu810Gly)
c.1709A>G (p.Glu570Gly)
c.2360A>G (p.Glu787Gly)
c.1187A>G (p.Glu396Gly)
11g.68157917T>GCA381587203KMT5Bc.2216A>C (p.Glu739Ala)
n.2781A>C
c.*2053A>C (n.*2053A>C)
c.*2096A>C (n.*2096A>C)
c.1913A>C (p.Glu638Ala)
c.*1637A>C (n.*1637A>C)
c.2429A>C (p.Glu810Ala)
c.1709A>C (p.Glu570Ala)
c.2360A>C (p.Glu787Ala)
c.1187A>C (p.Glu396Ala)
11g.68157918C>ACA381587205KMT5Bc.2215G>T (p.Glu739Ter)
n.2780G>T
c.*2052G>T (n.*2052G>T)
c.*2095G>T (n.*2095G>T)
c.1912G>T (p.Glu638Ter)
c.*1636G>T (n.*1636G>T)
c.2428G>T (p.Glu810Ter)
c.1708G>T (p.Glu570Ter)
c.2359G>T (p.Glu787Ter)
c.1186G>T (p.Glu396Ter)
11g.68157918C=CA1980500225KMT5Bc.2215G= (p.Glu739=)
n.2780G=
c.*2052G= (n.*2052G=)
c.*2095G= (n.*2095G=)
c.1912G= (p.Glu638=)
c.*1636G= (n.*1636G=)
c.2428G= (p.Glu810=)
c.1708G= (p.Glu570=)
c.2359G= (p.Glu787=)
c.1186G= (p.Glu396=)
11g.68157918C>GCA381587206KMT5Bc.2215G>C (p.Glu739Gln)
n.2780G>C
c.*2052G>C (n.*2052G>C)
c.*2095G>C (n.*2095G>C)
c.1912G>C (p.Glu638Gln)
c.*1636G>C (n.*1636G>C)
c.2428G>C (p.Glu810Gln)
c.1708G>C (p.Glu570Gln)
c.2359G>C (p.Glu787Gln)
c.1186G>C (p.Glu396Gln)
11g.68157918C>TCA6148014KMT5Bc.2215G>A (p.Glu739Lys)
n.2780G>A
c.*2052G>A (n.*2052G>A)
c.*2095G>A (n.*2095G>A)
c.1912G>A (p.Glu638Lys)
c.*1636G>A (n.*1636G>A)
c.2428G>A (p.Glu810Lys)
c.1708G>A (p.Glu570Lys)
c.2359G>A (p.Glu787Lys)
c.1186G>A (p.Glu396Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157919C>ACA381587211KMT5Bc.2214G>T (p.Leu738Phe)
n.2779G>T
c.*2051G>T (n.*2051G>T)
c.*2094G>T (n.*2094G>T)
c.1911G>T (p.Leu637Phe)
c.*1635G>T (n.*1635G>T)
c.2427G>T (p.Leu809Phe)
c.1707G>T (p.Leu569Phe)
c.2358G>T (p.Leu786Phe)
c.1185G>T (p.Leu395Phe)
gnomAD v4
11g.68157919C>GCA381587209KMT5Bc.2214G>C (p.Leu738Phe)
n.2779G>C
c.*2051G>C (n.*2051G>C)
c.*2094G>C (n.*2094G>C)
c.1911G>C (p.Leu637Phe)
c.*1635G>C (n.*1635G>C)
c.2427G>C (p.Leu809Phe)
c.1707G>C (p.Leu569Phe)
c.2358G>C (p.Leu786Phe)
c.1185G>C (p.Leu395Phe)
11g.68157919C>TCA475514702KMT5Bc.2214G>A (p.Leu738=)
n.2779G>A
c.*2051G>A (n.*2051G>A)
c.*2094G>A (n.*2094G>A)
c.1911G>A (p.Leu637=)
c.*1635G>A (n.*1635G>A)
c.2427G>A (p.Leu809=)
c.1707G>A (p.Leu569=)
c.2358G>A (p.Leu786=)
c.1185G>A (p.Leu395=)
COSMIC COSMIC
11g.68157920A=CA1980500232KMT5Bc.2213T= (p.Leu738=)
n.2778T=
c.*2050T= (n.*2050T=)
c.*2093T= (n.*2093T=)
c.1910T= (p.Leu637=)
c.*1634T= (n.*1634T=)
c.2426T= (p.Leu809=)
c.1706T= (p.Leu569=)
c.2357T= (p.Leu786=)
c.1184T= (p.Leu395=)
11g.68157920A>CCA381587214KMT5Bc.2213T>G (p.Leu738Trp)
n.2778T>G
c.*2050T>G (n.*2050T>G)
c.*2093T>G (n.*2093T>G)
c.1910T>G (p.Leu637Trp)
c.*1634T>G (n.*1634T>G)
c.2426T>G (p.Leu809Trp)
c.1706T>G (p.Leu569Trp)
c.2357T>G (p.Leu786Trp)
c.1184T>G (p.Leu395Trp)
11g.68157920A>GCA224247930KMT5Bc.2213T>C (p.Leu738Ser)
n.2778T>C
c.*2050T>C (n.*2050T>C)
c.*2093T>C (n.*2093T>C)
c.1910T>C (p.Leu637Ser)
c.*1634T>C (n.*1634T>C)
c.2426T>C (p.Leu809Ser)
c.1706T>C (p.Leu569Ser)
c.2357T>C (p.Leu786Ser)
c.1184T>C (p.Leu395Ser)
dbSNP gnomAD v2 gnomAD v4
11g.68157920A>TCA381587218KMT5Bc.2213T>A (p.Leu738Ter)
n.2778T>A
c.*2050T>A (n.*2050T>A)
c.*2093T>A (n.*2093T>A)
c.1910T>A (p.Leu637Ter)
c.*1634T>A (n.*1634T>A)
c.2426T>A (p.Leu809Ter)
c.1706T>A (p.Leu569Ter)
c.2357T>A (p.Leu786Ter)
c.1184T>A (p.Leu395Ter)
11g.68157921A>CCA381587219KMT5Bc.2212T>G (p.Leu738Val)
n.2777T>G
c.*2049T>G (n.*2049T>G)
c.*2092T>G (n.*2092T>G)
c.1909T>G (p.Leu637Val)
c.*1633T>G (n.*1633T>G)
c.2425T>G (p.Leu809Val)
c.1705T>G (p.Leu569Val)
c.2356T>G (p.Leu786Val)
c.1183T>G (p.Leu395Val)
11g.68157921A>GCA475514703KMT5Bc.2212T>C (p.Leu738=)
n.2777T>C
c.*2049T>C (n.*2049T>C)
c.*2092T>C (n.*2092T>C)
c.1909T>C (p.Leu637=)
c.*1633T>C (n.*1633T>C)
c.2425T>C (p.Leu809=)
c.1705T>C (p.Leu569=)
c.2356T>C (p.Leu786=)
c.1183T>C (p.Leu395=)
11g.68157921A>TCA381587222KMT5Bc.2212T>A (p.Leu738Met)
n.2777T>A
c.*2049T>A (n.*2049T>A)
c.*2092T>A (n.*2092T>A)
c.1909T>A (p.Leu637Met)
c.*1633T>A (n.*1633T>A)
c.2425T>A (p.Leu809Met)
c.1705T>A (p.Leu569Met)
c.2356T>A (p.Leu786Met)
c.1183T>A (p.Leu395Met)
11g.68157924_68157927delCA2580615742KMT5Bc.2209_2212del (p.Leu737TrpfsTer?)
n.2774_2777del
c.*2046_*2049del (n.*2046_*2049del)
c.*2089_*2092del (n.*2089_*2092del)
c.1906_1909del (p.Leu636TrpfsTer?)
c.*1630_*1633del (n.*1630_*1633del)
c.2422_2425del (p.Leu808TrpfsTer?)
c.1702_1705del (p.Leu568TrpfsTer?)
c.2353_2356del (p.Leu785TrpfsTer?)
c.1180_1183del (p.Leu394TrpfsTer?)
ClinVar dbSNP
11g.68157922G>ACA224247931KMT5Bc.2211C>T (p.Leu737=)
n.2776C>T
c.*2048C>T (n.*2048C>T)
c.*2091C>T (n.*2091C>T)
c.1908C>T (p.Leu636=)
c.*1632C>T (n.*1632C>T)
c.2424C>T (p.Leu808=)
c.1704C>T (p.Leu568=)
c.2355C>T (p.Leu785=)
c.1182C>T (p.Leu394=)
dbSNP gnomAD v4
11g.68157922G>CCA475514704KMT5Bc.2211C>G (p.Leu737=)
n.2776C>G
c.*2048C>G (n.*2048C>G)
c.*2091C>G (n.*2091C>G)
c.1908C>G (p.Leu636=)
c.*1632C>G (n.*1632C>G)
c.2424C>G (p.Leu808=)
c.1704C>G (p.Leu568=)
c.2355C>G (p.Leu785=)
c.1182C>G (p.Leu394=)
11g.68157922G=CA1980500237KMT5Bc.2211C= (p.Leu737=)
n.2776C=
c.*2048C= (n.*2048C=)
c.*2091C= (n.*2091C=)
c.1908C= (p.Leu636=)
c.*1632C= (n.*1632C=)
c.2424C= (p.Leu808=)
c.1704C= (p.Leu568=)
c.2355C= (p.Leu785=)
c.1182C= (p.Leu394=)
11g.68157922G>TCA475514705KMT5Bc.2211C>A (p.Leu737=)
n.2776C>A
c.*2048C>A (n.*2048C>A)
c.*2091C>A (n.*2091C>A)
c.1908C>A (p.Leu636=)
c.*1632C>A (n.*1632C>A)
c.2424C>A (p.Leu808=)
c.1704C>A (p.Leu568=)
c.2355C>A (p.Leu785=)
c.1182C>A (p.Leu394=)
11g.68157923A>CCA381587227KMT5Bc.2210T>G (p.Leu737Arg)
n.2775T>G
c.*2047T>G (n.*2047T>G)
c.*2090T>G (n.*2090T>G)
c.1907T>G (p.Leu636Arg)
c.*1631T>G (n.*1631T>G)
c.2423T>G (p.Leu808Arg)
c.1703T>G (p.Leu568Arg)
c.2354T>G (p.Leu785Arg)
c.1181T>G (p.Leu394Arg)
ClinVar
11g.68157923A>GCA381587230KMT5Bc.2210T>C (p.Leu737Pro)
n.2775T>C
c.*2047T>C (n.*2047T>C)
c.*2090T>C (n.*2090T>C)
c.1907T>C (p.Leu636Pro)
c.*1631T>C (n.*1631T>C)
c.2423T>C (p.Leu808Pro)
c.1703T>C (p.Leu568Pro)
c.2354T>C (p.Leu785Pro)
c.1181T>C (p.Leu394Pro)
11g.68157923A>TCA381587228KMT5Bc.2210T>A (p.Leu737His)
n.2775T>A
c.*2047T>A (n.*2047T>A)
c.*2090T>A (n.*2090T>A)
c.1907T>A (p.Leu636His)
c.*1631T>A (n.*1631T>A)
c.2423T>A (p.Leu808His)
c.1703T>A (p.Leu568His)
c.2354T>A (p.Leu785His)
c.1181T>A (p.Leu394His)
11g.68157924G>ACA381587235KMT5Bc.2209C>T (p.Leu737Phe)
n.2774C>T
c.*2046C>T (n.*2046C>T)
c.*2089C>T (n.*2089C>T)
c.1906C>T (p.Leu636Phe)
c.*1630C>T (n.*1630C>T)
c.2422C>T (p.Leu808Phe)
c.1702C>T (p.Leu568Phe)
c.2353C>T (p.Leu785Phe)
c.1180C>T (p.Leu394Phe)
dbSNP gnomAD v2 gnomAD v4
11g.68157924G>CCA381587239KMT5Bc.2209C>G (p.Leu737Val)
n.2774C>G
c.*2046C>G (n.*2046C>G)
c.*2089C>G (n.*2089C>G)
c.1906C>G (p.Leu636Val)
c.*1630C>G (n.*1630C>G)
c.2422C>G (p.Leu808Val)
c.1702C>G (p.Leu568Val)
c.2353C>G (p.Leu785Val)
c.1180C>G (p.Leu394Val)
11g.68157924G=CA1980500250KMT5Bc.2209C= (p.Leu737=)
n.2774C=
c.*2046C= (n.*2046C=)
c.*2089C= (n.*2089C=)
c.1906C= (p.Leu636=)
c.*1630C= (n.*1630C=)
c.2422C= (p.Leu808=)
c.1702C= (p.Leu568=)
c.2353C= (p.Leu785=)
c.1180C= (p.Leu394=)
11g.68157924G>TCA381587244KMT5Bc.2209C>A (p.Leu737Ile)
n.2774C>A
c.*2046C>A (n.*2046C>A)
c.*2089C>A (n.*2089C>A)
c.1906C>A (p.Leu636Ile)
c.*1630C>A (n.*1630C>A)
c.2422C>A (p.Leu808Ile)
c.1702C>A (p.Leu568Ile)
c.2353C>A (p.Leu785Ile)
c.1180C>A (p.Leu394Ile)
11g.68157924_68157925insTTTCA2614700438KMT5Bc.2208_2209insAAA (p.Ser736_Leu737insLys)
n.2773_2774insAAA
c.*2045_*2046insAAA (n.*2045_*2046insAAA)
c.*2088_*2089insAAA (n.*2088_*2089insAAA)
c.1905_1906insAAA (p.Ser635_Leu636insLys)
c.*1629_*1630insAAA (n.*1629_*1630insAAA)
c.2421_2422insAAA (p.Ser807_Leu808insLys)
c.1701_1702insAAA (p.Ser567_Leu568insLys)
c.2352_2353insAAA (p.Ser784_Leu785insLys)
c.1179_1180insAAA (p.Ser393_Leu394insLys)
gnomAD v4
11g.68157925A=CA1980500254KMT5Bc.2208T= (p.Ser736=)
n.2773T=
c.*2045T= (n.*2045T=)
c.*2088T= (n.*2088T=)
c.1905T= (p.Ser635=)
c.*1629T= (n.*1629T=)
c.2421T= (p.Ser807=)
c.1701T= (p.Ser567=)
c.2352T= (p.Ser784=)
c.1179T= (p.Ser393=)
11g.68157925A>CCA475514706KMT5Bc.2208T>G (p.Ser736=)
n.2773T>G
c.*2045T>G (n.*2045T>G)
c.*2088T>G (n.*2088T>G)
c.1905T>G (p.Ser635=)
c.*1629T>G (n.*1629T>G)
c.2421T>G (p.Ser807=)
c.1701T>G (p.Ser567=)
c.2352T>G (p.Ser784=)
c.1179T>G (p.Ser393=)
dbSNP
11g.68157925A>GCA475514707KMT5Bc.2208T>C (p.Ser736=)
n.2773T>C
c.*2045T>C (n.*2045T>C)
c.*2088T>C (n.*2088T>C)
c.1905T>C (p.Ser635=)
c.*1629T>C (n.*1629T>C)
c.2421T>C (p.Ser807=)
c.1701T>C (p.Ser567=)
c.2352T>C (p.Ser784=)
c.1179T>C (p.Ser393=)
11g.68157925A>TCA475514708KMT5Bc.2208T>A (p.Ser736=)
n.2773T>A
c.*2045T>A (n.*2045T>A)
c.*2088T>A (n.*2088T>A)
c.1905T>A (p.Ser635=)
c.*1629T>A (n.*1629T>A)
c.2421T>A (p.Ser807=)
c.1701T>A (p.Ser567=)
c.2352T>A (p.Ser784=)
c.1179T>A (p.Ser393=)
11g.68157926G>ACA381587246KMT5Bc.2207C>T (p.Ser736Phe)
n.2772C>T
c.*2044C>T (n.*2044C>T)
c.*2087C>T (n.*2087C>T)
c.1904C>T (p.Ser635Phe)
c.*1628C>T (n.*1628C>T)
c.2420C>T (p.Ser807Phe)
c.1700C>T (p.Ser567Phe)
c.2351C>T (p.Ser784Phe)
c.1178C>T (p.Ser393Phe)
11g.68157926G>CCA381587248KMT5Bc.2207C>G (p.Ser736Cys)
n.2772C>G
c.*2044C>G (n.*2044C>G)
c.*2087C>G (n.*2087C>G)
c.1904C>G (p.Ser635Cys)
c.*1628C>G (n.*1628C>G)
c.2420C>G (p.Ser807Cys)
c.1700C>G (p.Ser567Cys)
c.2351C>G (p.Ser784Cys)
c.1178C>G (p.Ser393Cys)
11g.68157926G>TCA381587261KMT5Bc.2207C>A (p.Ser736Tyr)
n.2772C>A
c.*2044C>A (n.*2044C>A)
c.*2087C>A (n.*2087C>A)
c.1904C>A (p.Ser635Tyr)
c.*1628C>A (n.*1628C>A)
c.2420C>A (p.Ser807Tyr)
c.1700C>A (p.Ser567Tyr)
c.2351C>A (p.Ser784Tyr)
c.1178C>A (p.Ser393Tyr)
11g.68157927A>CCA381587266KMT5Bc.2206T>G (p.Ser736Ala)
n.2771T>G
c.*2043T>G (n.*2043T>G)
c.*2086T>G (n.*2086T>G)
c.1903T>G (p.Ser635Ala)
c.*1627T>G (n.*1627T>G)
c.2419T>G (p.Ser807Ala)
c.1699T>G (p.Ser567Ala)
c.2350T>G (p.Ser784Ala)
c.1177T>G (p.Ser393Ala)
11g.68157927A>GCA381587269KMT5Bc.2206T>C (p.Ser736Pro)
n.2771T>C
c.*2043T>C (n.*2043T>C)
c.*2086T>C (n.*2086T>C)
c.1903T>C (p.Ser635Pro)
c.*1627T>C (n.*1627T>C)
c.2419T>C (p.Ser807Pro)
c.1699T>C (p.Ser567Pro)
c.2350T>C (p.Ser784Pro)
c.1177T>C (p.Ser393Pro)
gnomAD v4
11g.68157927A>TCA381587273KMT5Bc.2206T>A (p.Ser736Thr)
n.2771T>A
c.*2043T>A (n.*2043T>A)
c.*2086T>A (n.*2086T>A)
c.1903T>A (p.Ser635Thr)
c.*1627T>A (n.*1627T>A)
c.2419T>A (p.Ser807Thr)
c.1699T>A (p.Ser567Thr)
c.2350T>A (p.Ser784Thr)
c.1177T>A (p.Ser393Thr)
11g.68157928A=CA1980500257KMT5Bc.2205T= (p.Leu735=)
n.2770T=
c.*2042T= (n.*2042T=)
c.*2085T= (n.*2085T=)
c.1902T= (p.Leu634=)
c.*1626T= (n.*1626T=)
c.2418T= (p.Leu806=)
c.1698T= (p.Leu566=)
c.2349T= (p.Leu783=)
c.1176T= (p.Leu392=)
11g.68157928A>CCA475514709KMT5Bc.2205T>G (p.Leu735=)
n.2770T>G
c.*2042T>G (n.*2042T>G)
c.*2085T>G (n.*2085T>G)
c.1902T>G (p.Leu634=)
c.*1626T>G (n.*1626T>G)
c.2418T>G (p.Leu806=)
c.1698T>G (p.Leu566=)
c.2349T>G (p.Leu783=)
c.1176T>G (p.Leu392=)
11g.68157928A>GCA475514710KMT5Bc.2205T>C (p.Leu735=)
n.2770T>C
c.*2042T>C (n.*2042T>C)
c.*2085T>C (n.*2085T>C)
c.1902T>C (p.Leu634=)
c.*1626T>C (n.*1626T>C)
c.2418T>C (p.Leu806=)
c.1698T>C (p.Leu566=)
c.2349T>C (p.Leu783=)
c.1176T>C (p.Leu392=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68157928A>TCA475514711KMT5Bc.2205T>A (p.Leu735=)
n.2770T>A
c.*2042T>A (n.*2042T>A)
c.*2085T>A (n.*2085T>A)
c.1902T>A (p.Leu634=)
c.*1626T>A (n.*1626T>A)
c.2418T>A (p.Leu806=)
c.1698T>A (p.Leu566=)
c.2349T>A (p.Leu783=)
c.1176T>A (p.Leu392=)
11g.68157929A>CCA381587276KMT5Bc.2204T>G (p.Leu735Arg)
n.2769T>G
c.*2041T>G (n.*2041T>G)
c.*2084T>G (n.*2084T>G)
c.1901T>G (p.Leu634Arg)
c.*1625T>G (n.*1625T>G)
c.2417T>G (p.Leu806Arg)
c.1697T>G (p.Leu566Arg)
c.2348T>G (p.Leu783Arg)
c.1175T>G (p.Leu392Arg)
11g.68157929A>GCA381587280KMT5Bc.2204T>C (p.Leu735Pro)
n.2769T>C
c.*2041T>C (n.*2041T>C)
c.*2084T>C (n.*2084T>C)
c.1901T>C (p.Leu634Pro)
c.*1625T>C (n.*1625T>C)
c.2417T>C (p.Leu806Pro)
c.1697T>C (p.Leu566Pro)
c.2348T>C (p.Leu783Pro)
c.1175T>C (p.Leu392Pro)
11g.68157929A>TCA381587282KMT5Bc.2204T>A (p.Leu735His)
n.2769T>A
c.*2041T>A (n.*2041T>A)
c.*2084T>A (n.*2084T>A)
c.1901T>A (p.Leu634His)
c.*1625T>A (n.*1625T>A)
c.2417T>A (p.Leu806His)
c.1697T>A (p.Leu566His)
c.2348T>A (p.Leu783His)
c.1175T>A (p.Leu392His)
11g.68157930G>ACA381587289KMT5Bc.2203C>T (p.Leu735Phe)
n.2768C>T
c.*2040C>T (n.*2040C>T)
c.*2083C>T (n.*2083C>T)
c.1900C>T (p.Leu634Phe)
c.*1624C>T (n.*1624C>T)
c.2416C>T (p.Leu806Phe)
c.1696C>T (p.Leu566Phe)
c.2347C>T (p.Leu783Phe)
c.1174C>T (p.Leu392Phe)
dbSNP gnomAD v2 gnomAD v4
11g.68157930G>CCA381587293KMT5Bc.2203C>G (p.Leu735Val)
n.2768C>G
c.*2040C>G (n.*2040C>G)
c.*2083C>G (n.*2083C>G)
c.1900C>G (p.Leu634Val)
c.*1624C>G (n.*1624C>G)
c.2416C>G (p.Leu806Val)
c.1696C>G (p.Leu566Val)
c.2347C>G (p.Leu783Val)
c.1174C>G (p.Leu392Val)
COSMIC COSMIC
11g.68157930G=CA1980500259KMT5Bc.2203C= (p.Leu735=)
n.2768C=
c.*2040C= (n.*2040C=)
c.*2083C= (n.*2083C=)
c.1900C= (p.Leu634=)
c.*1624C= (n.*1624C=)
c.2416C= (p.Leu806=)
c.1696C= (p.Leu566=)
c.2347C= (p.Leu783=)
c.1174C= (p.Leu392=)
11g.68157930G>TCA381587292KMT5Bc.2203C>A (p.Leu735Ile)
n.2768C>A
c.*2040C>A (n.*2040C>A)
c.*2083C>A (n.*2083C>A)
c.1900C>A (p.Leu634Ile)
c.*1624C>A (n.*1624C>A)
c.2416C>A (p.Leu806Ile)
c.1696C>A (p.Leu566Ile)
c.2347C>A (p.Leu783Ile)
c.1174C>A (p.Leu392Ile)
11g.68157932_68157934delCA2519170960KMT5Bc.2201_2203del (p.Pro734del)
n.2766_2768del
c.*2038_*2040del (n.*2038_*2040del)
c.*2081_*2083del (n.*2081_*2083del)
c.1898_1900del (p.Pro633del)
c.*1622_*1624del (n.*1622_*1624del)
c.2414_2416del (p.Pro805del)
c.1694_1696del (p.Pro565del)
c.2345_2347del (p.Pro782del)
c.1172_1174del (p.Pro391del)
gnomAD v4
11g.68157931A>CCA475514712KMT5Bc.2202T>G (p.Pro734=)
n.2767T>G
c.*2039T>G (n.*2039T>G)
c.*2082T>G (n.*2082T>G)
c.1899T>G (p.Pro633=)
c.*1623T>G (n.*1623T>G)
c.2415T>G (p.Pro805=)
c.1695T>G (p.Pro565=)
c.2346T>G (p.Pro782=)
c.1173T>G (p.Pro391=)
11g.68157931A>GCA475514713KMT5Bc.2202T>C (p.Pro734=)
n.2767T>C
c.*2039T>C (n.*2039T>C)
c.*2082T>C (n.*2082T>C)
c.1899T>C (p.Pro633=)
c.*1623T>C (n.*1623T>C)
c.2415T>C (p.Pro805=)
c.1695T>C (p.Pro565=)
c.2346T>C (p.Pro782=)
c.1173T>C (p.Pro391=)
11g.68157931A>TCA475514714KMT5Bc.2202T>A (p.Pro734=)
n.2767T>A
c.*2039T>A (n.*2039T>A)
c.*2082T>A (n.*2082T>A)
c.1899T>A (p.Pro633=)
c.*1623T>A (n.*1623T>A)
c.2415T>A (p.Pro805=)
c.1695T>A (p.Pro565=)
c.2346T>A (p.Pro782=)
c.1173T>A (p.Pro391=)
11g.68157932G>ACA381587297KMT5Bc.2201C>T (p.Pro734Leu)
n.2766C>T
c.*2038C>T (n.*2038C>T)
c.*2081C>T (n.*2081C>T)
c.1898C>T (p.Pro633Leu)
c.*1622C>T (n.*1622C>T)
c.2414C>T (p.Pro805Leu)
c.1694C>T (p.Pro565Leu)
c.2345C>T (p.Pro782Leu)
c.1172C>T (p.Pro391Leu)
dbSNP
11g.68157932G>CCA381587302KMT5Bc.2201C>G (p.Pro734Arg)
n.2766C>G
c.*2038C>G (n.*2038C>G)
c.*2081C>G (n.*2081C>G)
c.1898C>G (p.Pro633Arg)
c.*1622C>G (n.*1622C>G)
c.2414C>G (p.Pro805Arg)
c.1694C>G (p.Pro565Arg)
c.2345C>G (p.Pro782Arg)
c.1172C>G (p.Pro391Arg)
11g.68157932G=CA1980500264KMT5Bc.2201C= (p.Pro734=)
n.2766C=
c.*2038C= (n.*2038C=)
c.*2081C= (n.*2081C=)
c.1898C= (p.Pro633=)
c.*1622C= (n.*1622C=)
c.2414C= (p.Pro805=)
c.1694C= (p.Pro565=)
c.2345C= (p.Pro782=)
c.1172C= (p.Pro391=)
11g.68157932G>TCA381587305KMT5Bc.2201C>A (p.Pro734His)
n.2766C>A
c.*2038C>A (n.*2038C>A)
c.*2081C>A (n.*2081C>A)
c.1898C>A (p.Pro633His)
c.*1622C>A (n.*1622C>A)
c.2414C>A (p.Pro805His)
c.1694C>A (p.Pro565His)
c.2345C>A (p.Pro782His)
c.1172C>A (p.Pro391His)
11g.68157933G>ACA381587306KMT5Bc.2200C>T (p.Pro734Ser)
n.2765C>T
c.*2037C>T (n.*2037C>T)
c.*2080C>T (n.*2080C>T)
c.1897C>T (p.Pro633Ser)
c.*1621C>T (n.*1621C>T)
c.2413C>T (p.Pro805Ser)
c.1693C>T (p.Pro565Ser)
c.2344C>T (p.Pro782Ser)
c.1171C>T (p.Pro391Ser)
ClinVar dbSNP gnomAD v4
11g.68157933G>CCA381587307KMT5Bc.2200C>G (p.Pro734Ala)
n.2765C>G
c.*2037C>G (n.*2037C>G)
c.*2080C>G (n.*2080C>G)
c.1897C>G (p.Pro633Ala)
c.*1621C>G (n.*1621C>G)
c.2413C>G (p.Pro805Ala)
c.1693C>G (p.Pro565Ala)
c.2344C>G (p.Pro782Ala)
c.1171C>G (p.Pro391Ala)
gnomAD v4
11g.68157933G>TCA381587308KMT5Bc.2200C>A (p.Pro734Thr)
n.2765C>A
c.*2037C>A (n.*2037C>A)
c.*2080C>A (n.*2080C>A)
c.1897C>A (p.Pro633Thr)
c.*1621C>A (n.*1621C>A)
c.2413C>A (p.Pro805Thr)
c.1693C>A (p.Pro565Thr)
c.2344C>A (p.Pro782Thr)
c.1171C>A (p.Pro391Thr)
11g.68157934A>CCA381587312KMT5Bc.2199T>G (p.Asp733Glu)
n.2764T>G
c.*2036T>G (n.*2036T>G)
c.*2079T>G (n.*2079T>G)
c.1896T>G (p.Asp632Glu)
c.*1620T>G (n.*1620T>G)
c.2412T>G (p.Asp804Glu)
c.1692T>G (p.Asp564Glu)
c.2343T>G (p.Asp781Glu)
c.1170T>G (p.Asp390Glu)
11g.68157934A>GCA475514715KMT5Bc.2199T>C (p.Asp733=)
n.2764T>C
c.*2036T>C (n.*2036T>C)
c.*2079T>C (n.*2079T>C)
c.1896T>C (p.Asp632=)
c.*1620T>C (n.*1620T>C)
c.2412T>C (p.Asp804=)
c.1692T>C (p.Asp564=)
c.2343T>C (p.Asp781=)
c.1170T>C (p.Asp390=)
11g.68157934A>TCA381587309KMT5Bc.2199T>A (p.Asp733Glu)
n.2764T>A
c.*2036T>A (n.*2036T>A)
c.*2079T>A (n.*2079T>A)
c.1896T>A (p.Asp632Glu)
c.*1620T>A (n.*1620T>A)
c.2412T>A (p.Asp804Glu)
c.1692T>A (p.Asp564Glu)
c.2343T>A (p.Asp781Glu)
c.1170T>A (p.Asp390Glu)
11g.68157935T>ACA381587315KMT5Bc.2198A>T (p.Asp733Val)
n.2763A>T
c.*2035A>T (n.*2035A>T)
c.*2078A>T (n.*2078A>T)
c.1895A>T (p.Asp632Val)
c.*1619A>T (n.*1619A>T)
c.2411A>T (p.Asp804Val)
c.1691A>T (p.Asp564Val)
c.2342A>T (p.Asp781Val)
c.1169A>T (p.Asp390Val)
11g.68157935T>CCA381587317KMT5Bc.2198A>G (p.Asp733Gly)
n.2763A>G
c.*2035A>G (n.*2035A>G)
c.*2078A>G (n.*2078A>G)
c.1895A>G (p.Asp632Gly)
c.*1619A>G (n.*1619A>G)
c.2411A>G (p.Asp804Gly)
c.1691A>G (p.Asp564Gly)
c.2342A>G (p.Asp781Gly)
c.1169A>G (p.Asp390Gly)
gnomAD v4
11g.68157935T>GCA381587318KMT5Bc.2198A>C (p.Asp733Ala)
n.2763A>C
c.*2035A>C (n.*2035A>C)
c.*2078A>C (n.*2078A>C)
c.1895A>C (p.Asp632Ala)
c.*1619A>C (n.*1619A>C)
c.2411A>C (p.Asp804Ala)
c.1691A>C (p.Asp564Ala)
c.2342A>C (p.Asp781Ala)
c.1169A>C (p.Asp390Ala)
11g.68157936C>ACA381587321KMT5Bc.2197G>T (p.Asp733Tyr)
n.2762G>T
c.*2034G>T (n.*2034G>T)
c.*2077G>T (n.*2077G>T)
c.1894G>T (p.Asp632Tyr)
c.*1618G>T (n.*1618G>T)
c.2410G>T (p.Asp804Tyr)
c.1690G>T (p.Asp564Tyr)
c.2341G>T (p.Asp781Tyr)
c.1168G>T (p.Asp390Tyr)
11g.68157936C>GCA381587322KMT5Bc.2197G>C (p.Asp733His)
n.2762G>C
c.*2034G>C (n.*2034G>C)
c.*2077G>C (n.*2077G>C)
c.1894G>C (p.Asp632His)
c.*1618G>C (n.*1618G>C)
c.2410G>C (p.Asp804His)
c.1690G>C (p.Asp564His)
c.2341G>C (p.Asp781His)
c.1168G>C (p.Asp390His)
11g.68157936C>TCA381587325KMT5Bc.2197G>A (p.Asp733Asn)
n.2762G>A
c.*2034G>A (n.*2034G>A)
c.*2077G>A (n.*2077G>A)
c.1894G>A (p.Asp632Asn)
c.*1618G>A (n.*1618G>A)
c.2410G>A (p.Asp804Asn)
c.1690G>A (p.Asp564Asn)
c.2341G>A (p.Asp781Asn)
c.1168G>A (p.Asp390Asn)
11g.68157937A=CA1980500270KMT5Bc.2196T= (p.Ser732=)
n.2761T=
c.*2033T= (n.*2033T=)
c.*2076T= (n.*2076T=)
c.1893T= (p.Ser631=)
c.*1617T= (n.*1617T=)
c.2409T= (p.Ser803=)
c.1689T= (p.Ser563=)
c.2340T= (p.Ser780=)
c.1167T= (p.Ser389=)
11g.68157937A>CCA381587326KMT5Bc.2196T>G (p.Ser732Arg)
n.2761T>G
c.*2033T>G (n.*2033T>G)
c.*2076T>G (n.*2076T>G)
c.1893T>G (p.Ser631Arg)
c.*1617T>G (n.*1617T>G)
c.2409T>G (p.Ser803Arg)
c.1689T>G (p.Ser563Arg)
c.2340T>G (p.Ser780Arg)
c.1167T>G (p.Ser389Arg)
11g.68157937A>GCA6148015KMT5Bc.2196T>C (p.Ser732=)
n.2761T>C
c.*2033T>C (n.*2033T>C)
c.*2076T>C (n.*2076T>C)
c.1893T>C (p.Ser631=)
c.*1617T>C (n.*1617T>C)
c.2409T>C (p.Ser803=)
c.1689T>C (p.Ser563=)
c.2340T>C (p.Ser780=)
c.1167T>C (p.Ser389=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157937A>TCA381587327KMT5Bc.2196T>A (p.Ser732Arg)
n.2761T>A
c.*2033T>A (n.*2033T>A)
c.*2076T>A (n.*2076T>A)
c.1893T>A (p.Ser631Arg)
c.*1617T>A (n.*1617T>A)
c.2409T>A (p.Ser803Arg)
c.1689T>A (p.Ser563Arg)
c.2340T>A (p.Ser780Arg)
c.1167T>A (p.Ser389Arg)
11g.68157938C>ACA381587330KMT5Bc.2195G>T (p.Ser732Ile)
n.2760G>T
c.*2032G>T (n.*2032G>T)
c.*2075G>T (n.*2075G>T)
c.1892G>T (p.Ser631Ile)
c.*1616G>T (n.*1616G>T)
c.2408G>T (p.Ser803Ile)
c.1688G>T (p.Ser563Ile)
c.2339G>T (p.Ser780Ile)
c.1166G>T (p.Ser389Ile)
COSMIC COSMIC
11g.68157938C>GCA381587331KMT5Bc.2195G>C (p.Ser732Thr)
n.2760G>C
c.*2032G>C (n.*2032G>C)
c.*2075G>C (n.*2075G>C)
c.1892G>C (p.Ser631Thr)
c.*1616G>C (n.*1616G>C)
c.2408G>C (p.Ser803Thr)
c.1688G>C (p.Ser563Thr)
c.2339G>C (p.Ser780Thr)
c.1166G>C (p.Ser389Thr)
gnomAD v4
11g.68157938C>TCA381587332KMT5Bc.2195G>A (p.Ser732Asn)
n.2760G>A
c.*2032G>A (n.*2032G>A)
c.*2075G>A (n.*2075G>A)
c.1892G>A (p.Ser631Asn)
c.*1616G>A (n.*1616G>A)
c.2408G>A (p.Ser803Asn)
c.1688G>A (p.Ser563Asn)
c.2339G>A (p.Ser780Asn)
c.1166G>A (p.Ser389Asn)
11g.68157939T>ACA381587333KMT5Bc.2194A>T (p.Ser732Cys)
n.2759A>T
c.*2031A>T (n.*2031A>T)
c.*2074A>T (n.*2074A>T)
c.1891A>T (p.Ser631Cys)
c.*1615A>T (n.*1615A>T)
c.2407A>T (p.Ser803Cys)
c.1687A>T (p.Ser563Cys)
c.2338A>T (p.Ser780Cys)
c.1165A>T (p.Ser389Cys)
11g.68157939T>CCA224247937KMT5Bc.2194A>G (p.Ser732Gly)
n.2759A>G
c.*2031A>G (n.*2031A>G)
c.*2074A>G (n.*2074A>G)
c.1891A>G (p.Ser631Gly)
c.*1615A>G (n.*1615A>G)
c.2407A>G (p.Ser803Gly)
c.1687A>G (p.Ser563Gly)
c.2338A>G (p.Ser780Gly)
c.1165A>G (p.Ser389Gly)
dbSNP gnomAD v3 gnomAD v4
11g.68157939T>GCA381587335KMT5Bc.2194A>C (p.Ser732Arg)
n.2759A>C
c.*2031A>C (n.*2031A>C)
c.*2074A>C (n.*2074A>C)
c.1891A>C (p.Ser631Arg)
c.*1615A>C (n.*1615A>C)
c.2407A>C (p.Ser803Arg)
c.1687A>C (p.Ser563Arg)
c.2338A>C (p.Ser780Arg)
c.1165A>C (p.Ser389Arg)
11g.68157939T=CA1980500285KMT5Bc.2194A= (p.Ser732=)
n.2759A=
c.*2031A= (n.*2031A=)
c.*2074A= (n.*2074A=)
c.1891A= (p.Ser631=)
c.*1615A= (n.*1615A=)
c.2407A= (p.Ser803=)
c.1687A= (p.Ser563=)
c.2338A= (p.Ser780=)
c.1165A= (p.Ser389=)
11g.68157940G>ACA475514716KMT5Bc.2193C>T (p.Cys731=)
n.2758C>T
c.*2030C>T (n.*2030C>T)
c.*2073C>T (n.*2073C>T)
c.1890C>T (p.Cys630=)
c.*1614C>T (n.*1614C>T)
c.2406C>T (p.Cys802=)
c.1686C>T (p.Cys562=)
c.2337C>T (p.Cys779=)
c.1164C>T (p.Cys388=)
dbSNP gnomAD v2 gnomAD v4
11g.68157940G>CCA381587337KMT5Bc.2193C>G (p.Cys731Trp)
n.2758C>G
c.*2030C>G (n.*2030C>G)
c.*2073C>G (n.*2073C>G)
c.1890C>G (p.Cys630Trp)
c.*1614C>G (n.*1614C>G)
c.2406C>G (p.Cys802Trp)
c.1686C>G (p.Cys562Trp)
c.2337C>G (p.Cys779Trp)
c.1164C>G (p.Cys388Trp)
11g.68157940G=CA1980500289KMT5Bc.2193C= (p.Cys731=)
n.2758C=
c.*2030C= (n.*2030C=)
c.*2073C= (n.*2073C=)
c.1890C= (p.Cys630=)
c.*1614C= (n.*1614C=)
c.2406C= (p.Cys802=)
c.1686C= (p.Cys562=)
c.2337C= (p.Cys779=)
c.1164C= (p.Cys388=)
11g.68157940G>TCA381587340KMT5Bc.2193C>A (p.Cys731Ter)
n.2758C>A
c.*2030C>A (n.*2030C>A)
c.*2073C>A (n.*2073C>A)
c.1890C>A (p.Cys630Ter)
c.*1614C>A (n.*1614C>A)
c.2406C>A (p.Cys802Ter)
c.1686C>A (p.Cys562Ter)
c.2337C>A (p.Cys779Ter)
c.1164C>A (p.Cys388Ter)
11g.68157941C>ACA381587341KMT5Bc.2192G>T (p.Cys731Phe)
n.2757G>T
c.*2029G>T (n.*2029G>T)
c.*2072G>T (n.*2072G>T)
c.1889G>T (p.Cys630Phe)
c.*1613G>T (n.*1613G>T)
c.2405G>T (p.Cys802Phe)
c.1685G>T (p.Cys562Phe)
c.2336G>T (p.Cys779Phe)
c.1163G>T (p.Cys388Phe)
dbSNP gnomAD v3 gnomAD v4
11g.68157941C=CA1980500294KMT5Bc.2192G= (p.Cys731=)
n.2757G=
c.*2029G= (n.*2029G=)
c.*2072G= (n.*2072G=)
c.1889G= (p.Cys630=)
c.*1613G= (n.*1613G=)
c.2405G= (p.Cys802=)
c.1685G= (p.Cys562=)
c.2336G= (p.Cys779=)
c.1163G= (p.Cys388=)
11g.68157941C>GCA381587346KMT5Bc.2192G>C (p.Cys731Ser)
n.2757G>C
c.*2029G>C (n.*2029G>C)
c.*2072G>C (n.*2072G>C)
c.1889G>C (p.Cys630Ser)
c.*1613G>C (n.*1613G>C)
c.2405G>C (p.Cys802Ser)
c.1685G>C (p.Cys562Ser)
c.2336G>C (p.Cys779Ser)
c.1163G>C (p.Cys388Ser)
11g.68157941C>TCA381587349KMT5Bc.2192G>A (p.Cys731Tyr)
n.2757G>A
c.*2029G>A (n.*2029G>A)
c.*2072G>A (n.*2072G>A)
c.1889G>A (p.Cys630Tyr)
c.*1613G>A (n.*1613G>A)
c.2405G>A (p.Cys802Tyr)
c.1685G>A (p.Cys562Tyr)
c.2336G>A (p.Cys779Tyr)
c.1163G>A (p.Cys388Tyr)
11g.68157942A>CCA381587356KMT5Bc.2191T>G (p.Cys731Gly)
n.2756T>G
c.*2028T>G (n.*2028T>G)
c.*2071T>G (n.*2071T>G)
c.1888T>G (p.Cys630Gly)
c.*1612T>G (n.*1612T>G)
c.2404T>G (p.Cys802Gly)
c.1684T>G (p.Cys562Gly)
c.2335T>G (p.Cys779Gly)
c.1162T>G (p.Cys388Gly)
11g.68157942A>GCA381587367KMT5Bc.2191T>C (p.Cys731Arg)
n.2756T>C
c.*2028T>C (n.*2028T>C)
c.*2071T>C (n.*2071T>C)
c.1888T>C (p.Cys630Arg)
c.*1612T>C (n.*1612T>C)
c.2404T>C (p.Cys802Arg)
c.1684T>C (p.Cys562Arg)
c.2335T>C (p.Cys779Arg)
c.1162T>C (p.Cys388Arg)
gnomAD v4
11g.68157942A>TCA381587352KMT5Bc.2191T>A (p.Cys731Ser)
n.2756T>A
c.*2028T>A (n.*2028T>A)
c.*2071T>A (n.*2071T>A)
c.1888T>A (p.Cys630Ser)
c.*1612T>A (n.*1612T>A)
c.2404T>A (p.Cys802Ser)
c.1684T>A (p.Cys562Ser)
c.2335T>A (p.Cys779Ser)
c.1162T>A (p.Cys388Ser)
11g.68157943G>ACA475514717KMT5Bc.2190C>T (p.Cys730=)
n.2755C>T
c.*2027C>T (n.*2027C>T)
c.*2070C>T (n.*2070C>T)
c.1887C>T (p.Cys629=)
c.*1611C>T (n.*1611C>T)
c.2403C>T (p.Cys801=)
c.1683C>T (p.Cys561=)
c.2334C>T (p.Cys778=)
c.1161C>T (p.Cys387=)
11g.68157943G>CCA381587371KMT5Bc.2190C>G (p.Cys730Trp)
n.2755C>G
c.*2027C>G (n.*2027C>G)
c.*2070C>G (n.*2070C>G)
c.1887C>G (p.Cys629Trp)
c.*1611C>G (n.*1611C>G)
c.2403C>G (p.Cys801Trp)
c.1683C>G (p.Cys561Trp)
c.2334C>G (p.Cys778Trp)
c.1161C>G (p.Cys387Trp)
11g.68157943G>TCA381587380KMT5Bc.2190C>A (p.Cys730Ter)
n.2755C>A
c.*2027C>A (n.*2027C>A)
c.*2070C>A (n.*2070C>A)
c.1887C>A (p.Cys629Ter)
c.*1611C>A (n.*1611C>A)
c.2403C>A (p.Cys801Ter)
c.1683C>A (p.Cys561Ter)
c.2334C>A (p.Cys778Ter)
c.1161C>A (p.Cys387Ter)
11g.68157944C>ACA381587384KMT5Bc.2189G>T (p.Cys730Phe)
n.2754G>T
c.*2026G>T (n.*2026G>T)
c.*2069G>T (n.*2069G>T)
c.1886G>T (p.Cys629Phe)
c.*1610G>T (n.*1610G>T)
c.2402G>T (p.Cys801Phe)
c.1682G>T (p.Cys561Phe)
c.2333G>T (p.Cys778Phe)
c.1160G>T (p.Cys387Phe)
11g.68157944C>GCA381587386KMT5Bc.2189G>C (p.Cys730Ser)
n.2754G>C
c.*2026G>C (n.*2026G>C)
c.*2069G>C (n.*2069G>C)
c.1886G>C (p.Cys629Ser)
c.*1610G>C (n.*1610G>C)
c.2402G>C (p.Cys801Ser)
c.1682G>C (p.Cys561Ser)
c.2333G>C (p.Cys778Ser)
c.1160G>C (p.Cys387Ser)
11g.68157944C>TCA381587390KMT5Bc.2189G>A (p.Cys730Tyr)
n.2754G>A
c.*2026G>A (n.*2026G>A)
c.*2069G>A (n.*2069G>A)
c.1886G>A (p.Cys629Tyr)
c.*1610G>A (n.*1610G>A)
c.2402G>A (p.Cys801Tyr)
c.1682G>A (p.Cys561Tyr)
c.2333G>A (p.Cys778Tyr)
c.1160G>A (p.Cys387Tyr)
11g.68157945A>CCA381587397KMT5Bc.2188T>G (p.Cys730Gly)
n.2753T>G
c.*2025T>G (n.*2025T>G)
c.*2068T>G (n.*2068T>G)
c.1885T>G (p.Cys629Gly)
c.*1609T>G (n.*1609T>G)
c.2401T>G (p.Cys801Gly)
c.1681T>G (p.Cys561Gly)
c.2332T>G (p.Cys778Gly)
c.1159T>G (p.Cys387Gly)
11g.68157945A>GCA381587396KMT5Bc.2188T>C (p.Cys730Arg)
n.2753T>C
c.*2025T>C (n.*2025T>C)
c.*2068T>C (n.*2068T>C)
c.1885T>C (p.Cys629Arg)
c.*1609T>C (n.*1609T>C)
c.2401T>C (p.Cys801Arg)
c.1681T>C (p.Cys561Arg)
c.2332T>C (p.Cys778Arg)
c.1159T>C (p.Cys387Arg)
11g.68157945A>TCA381587393KMT5Bc.2188T>A (p.Cys730Ser)
n.2753T>A
c.*2025T>A (n.*2025T>A)
c.*2068T>A (n.*2068T>A)
c.1885T>A (p.Cys629Ser)
c.*1609T>A (n.*1609T>A)
c.2401T>A (p.Cys801Ser)
c.1681T>A (p.Cys561Ser)
c.2332T>A (p.Cys778Ser)
c.1159T>A (p.Cys387Ser)
11g.68157946C>ACA475514718KMT5Bc.2187G>T (p.Val729=)
n.2752G>T
c.*2024G>T (n.*2024G>T)
c.*2067G>T (n.*2067G>T)
c.1884G>T (p.Val628=)
c.*1608G>T (n.*1608G>T)
c.2400G>T (p.Val800=)
c.1680G>T (p.Val560=)
c.2331G>T (p.Val777=)
c.1158G>T (p.Val386=)
11g.68157946C=CA1980500297KMT5Bc.2187G= (p.Val729=)
n.2752G=
c.*2024G= (n.*2024G=)
c.*2067G= (n.*2067G=)
c.1884G= (p.Val628=)
c.*1608G= (n.*1608G=)
c.2400G= (p.Val800=)
c.1680G= (p.Val560=)
c.2331G= (p.Val777=)
c.1158G= (p.Val386=)
11g.68157946C>GCA475514719KMT5Bc.2187G>C (p.Val729=)
n.2752G>C
c.*2024G>C (n.*2024G>C)
c.*2067G>C (n.*2067G>C)
c.1884G>C (p.Val628=)
c.*1608G>C (n.*1608G>C)
c.2400G>C (p.Val800=)
c.1680G>C (p.Val560=)
c.2331G>C (p.Val777=)
c.1158G>C (p.Val386=)
11g.68157946C>TCA475514720KMT5Bc.2187G>A (p.Val729=)
n.2752G>A
c.*2024G>A (n.*2024G>A)
c.*2067G>A (n.*2067G>A)
c.1884G>A (p.Val628=)
c.*1608G>A (n.*1608G>A)
c.2400G>A (p.Val800=)
c.1680G>A (p.Val560=)
c.2331G>A (p.Val777=)
c.1158G>A (p.Val386=)
dbSNP gnomAD v3 gnomAD v4
11g.68157947A>CCA381587400KMT5Bc.2186T>G (p.Val729Gly)
n.2751T>G
c.*2023T>G (n.*2023T>G)
c.*2066T>G (n.*2066T>G)
c.1883T>G (p.Val628Gly)
c.*1607T>G (n.*1607T>G)
c.2399T>G (p.Val800Gly)
c.1679T>G (p.Val560Gly)
c.2330T>G (p.Val777Gly)
c.1157T>G (p.Val386Gly)
11g.68157947A>GCA381587401KMT5Bc.2186T>C (p.Val729Ala)
n.2751T>C
c.*2023T>C (n.*2023T>C)
c.*2066T>C (n.*2066T>C)
c.1883T>C (p.Val628Ala)
c.*1607T>C (n.*1607T>C)
c.2399T>C (p.Val800Ala)
c.1679T>C (p.Val560Ala)
c.2330T>C (p.Val777Ala)
c.1157T>C (p.Val386Ala)
11g.68157947A>TCA381587405KMT5Bc.2186T>A (p.Val729Glu)
n.2751T>A
c.*2023T>A (n.*2023T>A)
c.*2066T>A (n.*2066T>A)
c.1883T>A (p.Val628Glu)
c.*1607T>A (n.*1607T>A)
c.2399T>A (p.Val800Glu)
c.1679T>A (p.Val560Glu)
c.2330T>A (p.Val777Glu)
c.1157T>A (p.Val386Glu)
11g.68157948C>ACA381587410KMT5Bc.2185G>T (p.Val729Leu)
n.2750G>T
c.*2022G>T (n.*2022G>T)
c.*2065G>T (n.*2065G>T)
c.1882G>T (p.Val628Leu)
c.*1606G>T (n.*1606G>T)
c.2398G>T (p.Val800Leu)
c.1678G>T (p.Val560Leu)
c.2329G>T (p.Val777Leu)
c.1156G>T (p.Val386Leu)
11g.68157948C>GCA381587414KMT5Bc.2185G>C (p.Val729Leu)
n.2750G>C
c.*2022G>C (n.*2022G>C)
c.*2065G>C (n.*2065G>C)
c.1882G>C (p.Val628Leu)
c.*1606G>C (n.*1606G>C)
c.2398G>C (p.Val800Leu)
c.1678G>C (p.Val560Leu)
c.2329G>C (p.Val777Leu)
c.1156G>C (p.Val386Leu)
11g.68157948C>TCA381587419KMT5Bc.2185G>A (p.Val729Met)
n.2750G>A
c.*2022G>A (n.*2022G>A)
c.*2065G>A (n.*2065G>A)
c.1882G>A (p.Val628Met)
c.*1606G>A (n.*1606G>A)
c.2398G>A (p.Val800Met)
c.1678G>A (p.Val560Met)
c.2329G>A (p.Val777Met)
c.1156G>A (p.Val386Met)
gnomAD v4
11g.68157950_68157951delCA645596786KMT5Bc.2184_2185del (p.Cys730LeufsTer3)
n.2749_2750del
c.*2021_*2022del (n.*2021_*2022del)
c.*2064_*2065del (n.*2064_*2065del)
c.1881_1882del (p.Cys629LeufsTer3)
c.*1605_*1606del (n.*1605_*1606del)
c.2397_2398del (p.Cys801LeufsTer3)
c.1677_1678del (p.Cys561LeufsTer3)
c.2328_2329del (p.Cys778LeufsTer3)
c.1155_1156del (p.Cys387LeufsTer3)
COSMIC
11g.68157949C>ACA475514721KMT5Bc.2184G>T (p.Gly728=)
n.2749G>T
c.*2021G>T (n.*2021G>T)
c.*2064G>T (n.*2064G>T)
c.1881G>T (p.Gly627=)
c.*1605G>T (n.*1605G>T)
c.2397G>T (p.Gly799=)
c.1677G>T (p.Gly559=)
c.2328G>T (p.Gly776=)
c.1155G>T (p.Gly385=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68157949C=CA1980500306KMT5Bc.2184G= (p.Gly728=)
n.2749G=
c.*2021G= (n.*2021G=)
c.*2064G= (n.*2064G=)
c.1881G= (p.Gly627=)
c.*1605G= (n.*1605G=)
c.2397G= (p.Gly799=)
c.1677G= (p.Gly559=)
c.2328G= (p.Gly776=)
c.1155G= (p.Gly385=)
11g.68157949C>GCA475514722KMT5Bc.2184G>C (p.Gly728=)
n.2749G>C
c.*2021G>C (n.*2021G>C)
c.*2064G>C (n.*2064G>C)
c.1881G>C (p.Gly627=)
c.*1605G>C (n.*1605G>C)
c.2397G>C (p.Gly799=)
c.1677G>C (p.Gly559=)
c.2328G>C (p.Gly776=)
c.1155G>C (p.Gly385=)
11g.68157949C>TCA475514723KMT5Bc.2184G>A (p.Gly728=)
n.2749G>A
c.*2021G>A (n.*2021G>A)
c.*2064G>A (n.*2064G>A)
c.1881G>A (p.Gly627=)
c.*1605G>A (n.*1605G>A)
c.2397G>A (p.Gly799=)
c.1677G>A (p.Gly559=)
c.2328G>A (p.Gly776=)
c.1155G>A (p.Gly385=)
gnomAD v4
11g.68157950C>ACA381587432KMT5Bc.2183G>T (p.Gly728Val)
n.2748G>T
c.*2020G>T (n.*2020G>T)
c.*2063G>T (n.*2063G>T)
c.1880G>T (p.Gly627Val)
c.*1604G>T (n.*1604G>T)
c.2396G>T (p.Gly799Val)
c.1676G>T (p.Gly559Val)
c.2327G>T (p.Gly776Val)
c.1154G>T (p.Gly385Val)
11g.68157950C>GCA381587423KMT5Bc.2183G>C (p.Gly728Ala)
n.2748G>C
c.*2020G>C (n.*2020G>C)
c.*2063G>C (n.*2063G>C)
c.1880G>C (p.Gly627Ala)
c.*1604G>C (n.*1604G>C)
c.2396G>C (p.Gly799Ala)
c.1676G>C (p.Gly559Ala)
c.2327G>C (p.Gly776Ala)
c.1154G>C (p.Gly385Ala)
11g.68157950C>TCA381587429KMT5Bc.2183G>A (p.Gly728Glu)
n.2748G>A
c.*2020G>A (n.*2020G>A)
c.*2063G>A (n.*2063G>A)
c.1880G>A (p.Gly627Glu)
c.*1604G>A (n.*1604G>A)
c.2396G>A (p.Gly799Glu)
c.1676G>A (p.Gly559Glu)
c.2327G>A (p.Gly776Glu)
c.1154G>A (p.Gly385Glu)
11g.68157951C>ACA381587436KMT5Bc.2182G>T (p.Gly728Trp)
n.2747G>T
c.*2019G>T (n.*2019G>T)
c.*2062G>T (n.*2062G>T)
c.1879G>T (p.Gly627Trp)
c.*1603G>T (n.*1603G>T)
c.2395G>T (p.Gly799Trp)
c.1675G>T (p.Gly559Trp)
c.2326G>T (p.Gly776Trp)
c.1153G>T (p.Gly385Trp)
11g.68157951C=CA1980500310KMT5Bc.2182G= (p.Gly728=)
n.2747G=
c.*2019G= (n.*2019G=)
c.*2062G= (n.*2062G=)
c.1879G= (p.Gly627=)
c.*1603G= (n.*1603G=)
c.2395G= (p.Gly799=)
c.1675G= (p.Gly559=)
c.2326G= (p.Gly776=)
c.1153G= (p.Gly385=)
11g.68157951C>GCA6148016KMT5Bc.2182G>C (p.Gly728Arg)
n.2747G>C
c.*2019G>C (n.*2019G>C)
c.*2062G>C (n.*2062G>C)
c.1879G>C (p.Gly627Arg)
c.*1603G>C (n.*1603G>C)
c.2395G>C (p.Gly799Arg)
c.1675G>C (p.Gly559Arg)
c.2326G>C (p.Gly776Arg)
c.1153G>C (p.Gly385Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157951C>TCA381587447KMT5Bc.2182G>A (p.Gly728Arg)
n.2747G>A
c.*2019G>A (n.*2019G>A)
c.*2062G>A (n.*2062G>A)
c.1879G>A (p.Gly627Arg)
c.*1603G>A (n.*1603G>A)
c.2395G>A (p.Gly799Arg)
c.1675G>A (p.Gly559Arg)
c.2326G>A (p.Gly776Arg)
c.1153G>A (p.Gly385Arg)

Number of alleles fetched