Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68157849_68157851del | CA2614700398 | KMT5B | c.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 |
11 | g.68157849_68157852delinsCAGA | CA1980500025 | KMT5B | c.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=) | |
11 | g.68157853_68157855del | CA600238789 | KMT5B | c.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 |
11 | g.68157851G>A | CA381586699 | KMT5B | c.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 |
11 | g.68157851G>C | CA6148005 | KMT5B | c.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 |
11 | g.68157851G= | CA1980500039 | KMT5B | c.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=) | |
11 | g.68157851G>T | CA381586696 | KMT5B | c.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) | |
11 | g.68157852A= | CA1980500044 | KMT5B | c.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=) | |
11 | g.68157852A>C | CA381586703 | KMT5B | c.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) | |
11 | g.68157852A>G | CA224247861 | KMT5B | c.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 |
11 | g.68157852A>T | CA381586708 | KMT5B | c.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) | |
11 | g.68157853A>C | CA475514631 | KMT5B | c.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=) | |
11 | g.68157853A>G | CA475514632 | KMT5B | c.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=) | |
11 | g.68157853A>T | CA475514633 | KMT5B | c.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=) | |
11 | g.68157853_68157856delinsAGAG | CA1980500050 | KMT5B | c.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=) | |
11 | g.68157854G>A | CA381586712 | KMT5B | c.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) | |
11 | g.68157854G>C | CA381586715 | KMT5B | c.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 |
11 | g.68157854G>T | CA381586718 | KMT5B | c.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 |
11 | g.68157859_68157861del | CA6148006 | KMT5B | c.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 |
11 | g.68157855A>C | CA381586725 | KMT5B | c.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) | |
11 | g.68157855A>G | CA381586728 | KMT5B | c.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) | |
11 | g.68157855A>T | CA381586729 | KMT5B | c.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) | |
11 | g.68157856G>A | CA475514637 | KMT5B | c.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=) | |
11 | g.68157856G>C | CA475514638 | KMT5B | c.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 |
11 | g.68157856G>T | CA475514639 | KMT5B | c.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=) | |
11 | g.68157857G>A | CA381586731 | KMT5B | c.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 |
11 | g.68157857G>C | CA381586734 | KMT5B | c.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 |
11 | g.68157857G= | CA1980500055 | KMT5B | c.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=) | |
11 | g.68157857G>T | CA381586737 | KMT5B | c.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) | |
11 | g.68157858A>C | CA381586749 | KMT5B | c.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) | |
11 | g.68157858A>G | CA381586742 | KMT5B | c.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 |
11 | g.68157858A>T | CA381586746 | KMT5B | c.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 |
11 | g.68157859G>A | CA475514643 | KMT5B | c.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 |
11 | g.68157859G>C | CA475514644 | KMT5B | c.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=) | |
11 | g.68157859G= | CA1980500062 | KMT5B | c.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=) | |
11 | g.68157859G>T | CA475514645 | KMT5B | c.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=) | |
11 | g.68157860G>A | CA381586754 | KMT5B | c.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) | |
11 | g.68157860G>C | CA381586756 | KMT5B | c.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) | |
11 | g.68157860G>T | CA381586762 | KMT5B | c.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 |
11 | g.68157861A>C | CA381586765 | KMT5B | c.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) | |
11 | g.68157861A>G | CA381586767 | KMT5B | c.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) | |
11 | g.68157861A>T | CA381586769 | KMT5B | c.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) | |
11 | g.68157861_68157864delinsAATC | CA1980500066 | KMT5B | c.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=) | |
11 | g.68157862A>C | CA381586772 | KMT5B | c.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) | |
11 | g.68157862A>G | CA475514649 | KMT5B | c.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 |
11 | g.68157862A>T | CA381586784 | KMT5B | c.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) | |
11 | g.68157865_68157867del | CA6148007 | KMT5B | c.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 |
11 | g.68157863T>A | CA381586789 | KMT5B | c.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 |
11 | g.68157863T>C | CA381586790 | KMT5B | c.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 |
11 | g.68157863T>G | CA381586793 | KMT5B | c.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) | |
11 | g.68157863T= | CA1980500075 | KMT5B | c.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=) | |
11 | g.68157864C>A | CA381586801 | KMT5B | c.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 |
11 | g.68157864C>G | CA381586805 | KMT5B | c.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) | |
11 | g.68157864C>T | CA381586797 | KMT5B | c.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 |
11 | g.68157865A= | CA1980500081 | KMT5B | c.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=) | |
11 | g.68157865A>C | CA381586808 | KMT5B | c.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) | |
11 | g.68157865A>G | CA6148008 | KMT5B | c.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 |
11 | g.68157865A>T | CA381586812 | KMT5B | c.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) | |
11 | g.68157866T>A | CA381586816 | KMT5B | c.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) | |
11 | g.68157866T>C | CA381586826 | KMT5B | c.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) | |
11 | g.68157866T>G | CA381586829 | KMT5B | c.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) | |
11 | g.68157867C>A | CA381586833 | KMT5B | c.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 |
11 | g.68157867C>G | CA381586835 | KMT5B | c.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) | |
11 | g.68157867C>T | CA381586837 | KMT5B | c.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) | |
11 | g.68157868T>A | CA475514657 | KMT5B | c.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 |
11 | g.68157868T>C | CA475514655 | KMT5B | c.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=) | |
11 | g.68157868T>G | CA475514653 | KMT5B | c.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=) | |
11 | g.68157869G>A | CA381586839 | KMT5B | c.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) | |
11 | g.68157869G>C | CA381586846 | KMT5B | c.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) | |
11 | g.68157869G>T | CA381586848 | KMT5B | c.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) | |
11 | g.68157870T>A | CA381586849 | KMT5B | c.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) | |
11 | g.68157870T>C | CA381586852 | KMT5B | c.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) | |
11 | g.68157870T>G | CA381586854 | KMT5B | c.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) | |
11 | g.68157871A= | CA1980500086 | KMT5B | c.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=) | |
11 | g.68157871A>C | CA381586857 | KMT5B | c.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) | |
11 | g.68157871A>G | CA475514659 | KMT5B | c.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 |
11 | g.68157871A>T | CA381586859 | KMT5B | c.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) | |
11 | g.68157872C>A | CA381586862 | KMT5B | c.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) | |
11 | g.68157872C>G | CA381586866 | KMT5B | c.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) | |
11 | g.68157872C>T | CA381586869 | KMT5B | c.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 |
11 | g.68157875_68157878del | CA2580084652 | KMT5B | c.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 |
11 | g.68157873T>A | CA381586870 | KMT5B | c.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) | |
11 | g.68157873T>C | CA381586872 | KMT5B | c.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) | |
11 | g.68157873T>G | CA381586873 | KMT5B | c.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) | |
11 | g.68157874T>A | CA381586879 | KMT5B | c.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) | |
11 | g.68157874T>C | CA475514664 | KMT5B | c.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 |
11 | g.68157874T>G | CA381586876 | KMT5B | c.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) | |
11 | g.68157875T>A | CA381586881 | KMT5B | c.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) | |
11 | g.68157875T>C | CA381586883 | KMT5B | c.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) | |
11 | g.68157875T>G | CA381586885 | KMT5B | c.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) | |
11 | g.68157876C>A | CA381586887 | KMT5B | c.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) | |
11 | g.68157876C>G | CA381586888 | KMT5B | c.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 |
11 | g.68157876C>T | CA381586890 | KMT5B | c.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 |
11 | g.68157877T>A | CA381586893 | KMT5B | c.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) | |
11 | g.68157877T>C | CA224247901 | KMT5B | c.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 |
11 | g.68157877T>G | CA381586894 | KMT5B | c.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) | |
11 | g.68157877T= | CA1980500094 | KMT5B | c.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=) | |
11 | g.68157878T>A | CA381586901 | KMT5B | c.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) | |
11 | g.68157878T>C | CA381586903 | KMT5B | c.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) | |
11 | g.68157878T>G | CA381586906 | KMT5B | c.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) | |
11 | g.68157879C>A | CA381586912 | KMT5B | c.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) | |
11 | g.68157879C>G | CA381586927 | KMT5B | c.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) | |
11 | g.68157879C>T | CA381586930 | KMT5B | c.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) | |
11 | g.68157880C>A | CA381586935 | KMT5B | c.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) | |
11 | g.68157880C= | CA1980500101 | KMT5B | c.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=) | |
11 | g.68157880C>G | CA381586937 | KMT5B | c.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) | |
11 | g.68157880C>T | CA6148009 | KMT5B | c.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 |
11 | g.68157881T>A | CA381586944 | KMT5B | c.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) | |
11 | g.68157881T>C | CA381586946 | KMT5B | c.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) | |
11 | g.68157881T>G | CA381586949 | KMT5B | c.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) | |
11 | g.68157882C>A | CA381586955 | KMT5B | c.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) | |
11 | g.68157882C= | CA1980500106 | KMT5B | c.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=) | |
11 | g.68157882C>G | CA381586967 | KMT5B | c.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) | |
11 | g.68157882C>T | CA6148010 | KMT5B | c.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 |
11 | g.68157883A= | CA1980500116 | KMT5B | c.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=) | |
11 | g.68157883A>C | CA381586972 | KMT5B | c.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) | |
11 | g.68157883A>G | CA475514672 | KMT5B | c.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 |
11 | g.68157883A>T | CA381586975 | KMT5B | c.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) | |
11 | g.68157884T>A | CA381586978 | KMT5B | c.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) | |
11 | g.68157884T>C | CA381586983 | KMT5B | c.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 |
11 | g.68157884T>G | CA381586988 | KMT5B | c.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) | |
11 | g.68157884T= | CA1980500121 | KMT5B | c.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=) | |
11 | g.68157885A= | CA1980500126 | KMT5B | c.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=) | |
11 | g.68157885A>C | CA381587001 | KMT5B | c.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) | |
11 | g.68157885A>G | CA381586994 | KMT5B | c.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 |
11 | g.68157885A>T | CA381586997 | KMT5B | c.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 |
11 | g.68157886C>A | CA381587007 | KMT5B | c.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) | |
11 | g.68157886C>G | CA381587011 | KMT5B | c.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) | |
11 | g.68157886C>T | CA475514673 | KMT5B | c.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=) | |
11 | g.68157887T>A | CA381587013 | KMT5B | c.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 |
11 | g.68157887T>C | CA6148011 | KMT5B | c.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 |
11 | g.68157887T>G | CA381587017 | KMT5B | c.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 |
11 | g.68157887T= | CA1980500130 | KMT5B | c.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=) | |
11 | g.68157888G>A | CA381587025 | KMT5B | c.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) | |
11 | g.68157888G>C | CA381587023 | KMT5B | c.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) | |
11 | g.68157888G>T | CA381587021 | KMT5B | c.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) | |
11 | g.68157889A>C | CA381587026 | KMT5B | c.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) | |
11 | g.68157889A>G | CA475514677 | KMT5B | c.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=) | |
11 | g.68157889A>T | CA381587029 | KMT5B | c.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) | |
11 | g.68157890C>A | CA381587032 | KMT5B | c.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) | |
11 | g.68157890C>G | CA381587037 | KMT5B | c.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) | |
11 | g.68157890C>T | CA381587035 | KMT5B | c.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) | |
11 | g.68157891T>A | CA381587044 | KMT5B | c.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) | |
11 | g.68157891T>C | CA381587047 | KMT5B | c.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) | |
11 | g.68157891T>G | CA381587045 | KMT5B | c.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) | |
11 | g.68157893_68157894del | CA2695214892 | KMT5B | c.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) | |
11 | g.68157892A= | CA1980500134 | KMT5B | c.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=) | |
11 | g.68157892A>C | CA381587050 | KMT5B | c.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) | |
11 | g.68157892A>G | CA475514679 | KMT5B | c.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 |
11 | g.68157892A>T | CA381587053 | KMT5B | c.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) | |
11 | g.68157893T>A | CA381587056 | KMT5B | c.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) | |
11 | g.68157893T>C | CA381587057 | KMT5B | c.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 |
11 | g.68157893T>G | CA381587060 | KMT5B | c.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) | |
11 | g.68157893T= | CA1980500137 | KMT5B | c.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=) | |
11 | g.68157894A>C | CA381587063 | KMT5B | c.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) | |
11 | g.68157894A>G | CA381587066 | KMT5B | c.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 |
11 | g.68157894A>T | CA381587068 | KMT5B | c.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) | |
11 | g.68157895G>A | CA475514681 | KMT5B | c.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 |
11 | g.68157895G>C | CA381587071 | KMT5B | c.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 |
11 | g.68157895G= | CA1980500138 | KMT5B | c.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=) | |
11 | g.68157895G>T | CA381587074 | KMT5B | c.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) | |
11 | g.68157896T>A | CA381587082 | KMT5B | c.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) | |
11 | g.68157896T>C | CA381587079 | KMT5B | c.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) | |
11 | g.68157896T>G | CA381587077 | KMT5B | c.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) | |
11 | g.68157897C>A | CA381587084 | KMT5B | c.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) | |
11 | g.68157897C>G | CA381587087 | KMT5B | c.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) | |
11 | g.68157897C>T | CA381587089 | KMT5B | c.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 |
11 | g.68157898A>C | CA381587091 | KMT5B | c.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) | |
11 | g.68157898A>G | CA475514685 | KMT5B | c.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=) | |
11 | g.68157898A>T | CA381587093 | KMT5B | c.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) | |
11 | g.68157899T>A | CA381587097 | KMT5B | c.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) | |
11 | g.68157899T>C | CA381587099 | KMT5B | c.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) | |
11 | g.68157899T>G | CA381587101 | KMT5B | c.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) | |
11 | g.68157900C>A | CA381587104 | KMT5B | c.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) | |
11 | g.68157900C>G | CA381587106 | KMT5B | c.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) | |
11 | g.68157900C>T | CA381587109 | KMT5B | c.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) | |
11 | g.68157901C>A | CA475514689 | KMT5B | c.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=) | |
11 | g.68157901C>G | CA475514690 | KMT5B | c.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=) | |
11 | g.68157901C>T | CA475514691 | KMT5B | c.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=) | |
11 | g.68157902A>C | CA381587114 | KMT5B | c.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) | |
11 | g.68157902A>G | CA381587117 | KMT5B | c.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) | |
11 | g.68157902A>T | CA381587112 | KMT5B | c.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) | |
11 | g.68157903C>A | CA381587118 | KMT5B | c.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) | |
11 | g.68157903C= | CA1980500143 | KMT5B | c.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=) | |
11 | g.68157903C>G | CA381587121 | KMT5B | c.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) | |
11 | g.68157903C>T | CA381587123 | KMT5B | c.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 |
11 | g.68157904C>A | CA381587125 | KMT5B | c.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) | |
11 | g.68157904C= | CA1980500150 | KMT5B | c.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=) | |
11 | g.68157904C>G | CA381587128 | KMT5B | c.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 |
11 | g.68157904C>T | CA475514693 | KMT5B | c.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 |
11 | g.68157905T>A | CA381587132 | KMT5B | c.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) | |
11 | g.68157905T>C | CA381587134 | KMT5B | c.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) | |
11 | g.68157905T>G | CA381587136 | KMT5B | c.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 |
11 | g.68157905T= | CA1980500156 | KMT5B | c.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=) | |
11 | g.68157906C>A | CA381587139 | KMT5B | c.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) | |
11 | g.68157906C= | CA1980500160 | KMT5B | c.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=) | |
11 | g.68157906C>G | CA381587141 | KMT5B | c.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) | |
11 | g.68157906C>T | CA6148012 | KMT5B | c.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 |
11 | g.68157907C>A | CA381587154 | KMT5B | c.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 |
11 | g.68157907C= | CA1980500167 | KMT5B | c.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=) | |
11 | g.68157907C>G | CA381587157 | KMT5B | c.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) | |
11 | g.68157907C>T | CA381587152 | KMT5B | c.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 |
11 | g.68157908A= | CA1980500175 | KMT5B | c.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=) | |
11 | g.68157908A>C | CA381587160 | KMT5B | c.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) | |
11 | g.68157908A>G | CA381587164 | KMT5B | c.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 |
11 | g.68157908A>T | CA381587165 | KMT5B | c.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) | |
11 | g.68157909T>A | CA381587167 | KMT5B | c.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) | |
11 | g.68157909T>C | CA381587168 | KMT5B | c.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) | |
11 | g.68157909T>G | CA381587171 | KMT5B | c.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) | |
11 | g.68157910T>A | CA475514694 | KMT5B | c.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=) | |
11 | g.68157910T>C | CA475514696 | KMT5B | c.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=) | |
11 | g.68157910T>G | CA475514695 | KMT5B | c.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 |
11 | g.68157910T= | CA1980500188 | KMT5B | c.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=) | |
11 | g.68157911C>A | CA381587175 | KMT5B | c.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) | |
11 | g.68157911C= | CA1980500193 | KMT5B | c.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=) | |
11 | g.68157911C>G | CA381587178 | KMT5B | c.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 |
11 | g.68157911C>T | CA6148013 | KMT5B | c.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 |
11 | g.68157912G>A | CA381587181 | KMT5B | c.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 |
11 | g.68157912G>C | CA381587184 | KMT5B | c.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 |
11 | g.68157912G= | CA1980500212 | KMT5B | c.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=) | |
11 | g.68157912G>T | CA475514697 | KMT5B | c.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=) | |
11 | g.68157913A>C | CA475514698 | KMT5B | c.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=) | |
11 | g.68157913A>G | CA475514699 | KMT5B | c.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=) | |
11 | g.68157913A>T | CA475514700 | KMT5B | c.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=) | |
11 | g.68157914G>A | CA381587186 | KMT5B | c.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) | |
11 | g.68157914G>C | CA381587189 | KMT5B | c.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) | |
11 | g.68157914G>T | CA381587192 | KMT5B | c.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) | |
11 | g.68157915A>C | CA381587198 | KMT5B | c.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) | |
11 | g.68157915A>G | CA381587197 | KMT5B | c.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) | |
11 | g.68157915A>T | CA381587194 | KMT5B | c.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) | |
11 | g.68157916C>A | CA381587200 | KMT5B | c.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 |
11 | g.68157916C= | CA1980500220 | KMT5B | c.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=) | |
11 | g.68157916C>G | CA381587199 | KMT5B | c.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) | |
11 | g.68157916C>T | CA475514701 | KMT5B | c.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 |
11 | g.68157917T>A | CA381587201 | KMT5B | c.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) | |
11 | g.68157917T>C | CA381587202 | KMT5B | c.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) | |
11 | g.68157917T>G | CA381587203 | KMT5B | c.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) | |
11 | g.68157918C>A | CA381587205 | KMT5B | c.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) | |
11 | g.68157918C= | CA1980500225 | KMT5B | c.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=) | |
11 | g.68157918C>G | CA381587206 | KMT5B | c.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) | |
11 | g.68157918C>T | CA6148014 | KMT5B | c.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 |
11 | g.68157919C>A | CA381587211 | KMT5B | c.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 |
11 | g.68157919C>G | CA381587209 | KMT5B | c.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) | |
11 | g.68157919C>T | CA475514702 | KMT5B | c.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 |
11 | g.68157920A= | CA1980500232 | KMT5B | c.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=) | |
11 | g.68157920A>C | CA381587214 | KMT5B | c.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) | |
11 | g.68157920A>G | CA224247930 | KMT5B | c.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 |
11 | g.68157920A>T | CA381587218 | KMT5B | c.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) | |
11 | g.68157921A>C | CA381587219 | KMT5B | c.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) | |
11 | g.68157921A>G | CA475514703 | KMT5B | c.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=) | |
11 | g.68157921A>T | CA381587222 | KMT5B | c.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) | |
11 | g.68157924_68157927del | CA2580615742 | KMT5B | c.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 |
11 | g.68157922G>A | CA224247931 | KMT5B | c.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 |
11 | g.68157922G>C | CA475514704 | KMT5B | c.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=) | |
11 | g.68157922G= | CA1980500237 | KMT5B | c.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=) | |
11 | g.68157922G>T | CA475514705 | KMT5B | c.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=) | |
11 | g.68157923A>C | CA381587227 | KMT5B | c.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 |
11 | g.68157923A>G | CA381587230 | KMT5B | c.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) | |
11 | g.68157923A>T | CA381587228 | KMT5B | c.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) | |
11 | g.68157924G>A | CA381587235 | KMT5B | c.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 |
11 | g.68157924G>C | CA381587239 | KMT5B | c.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) | |
11 | g.68157924G= | CA1980500250 | KMT5B | c.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=) | |
11 | g.68157924G>T | CA381587244 | KMT5B | c.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) | |
11 | g.68157924_68157925insTTT | CA2614700438 | KMT5B | c.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 |
11 | g.68157925A= | CA1980500254 | KMT5B | c.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=) | |
11 | g.68157925A>C | CA475514706 | KMT5B | c.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 |
11 | g.68157925A>G | CA475514707 | KMT5B | c.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=) | |
11 | g.68157925A>T | CA475514708 | KMT5B | c.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=) | |
11 | g.68157926G>A | CA381587246 | KMT5B | c.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) | |
11 | g.68157926G>C | CA381587248 | KMT5B | c.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) | |
11 | g.68157926G>T | CA381587261 | KMT5B | c.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) | |
11 | g.68157927A>C | CA381587266 | KMT5B | c.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) | |
11 | g.68157927A>G | CA381587269 | KMT5B | c.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 |
11 | g.68157927A>T | CA381587273 | KMT5B | c.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) | |
11 | g.68157928A= | CA1980500257 | KMT5B | c.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=) | |
11 | g.68157928A>C | CA475514709 | KMT5B | c.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=) | |
11 | g.68157928A>G | CA475514710 | KMT5B | c.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 |
11 | g.68157928A>T | CA475514711 | KMT5B | c.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=) | |
11 | g.68157929A>C | CA381587276 | KMT5B | c.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) | |
11 | g.68157929A>G | CA381587280 | KMT5B | c.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) | |
11 | g.68157929A>T | CA381587282 | KMT5B | c.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) | |
11 | g.68157930G>A | CA381587289 | KMT5B | c.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 |
11 | g.68157930G>C | CA381587293 | KMT5B | c.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 |
11 | g.68157930G= | CA1980500259 | KMT5B | c.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=) | |
11 | g.68157930G>T | CA381587292 | KMT5B | c.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) | |
11 | g.68157932_68157934del | CA2519170960 | KMT5B | c.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 |
11 | g.68157931A>C | CA475514712 | KMT5B | c.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=) | |
11 | g.68157931A>G | CA475514713 | KMT5B | c.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=) | |
11 | g.68157931A>T | CA475514714 | KMT5B | c.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=) | |
11 | g.68157932G>A | CA381587297 | KMT5B | c.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 |
11 | g.68157932G>C | CA381587302 | KMT5B | c.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) | |
11 | g.68157932G= | CA1980500264 | KMT5B | c.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=) | |
11 | g.68157932G>T | CA381587305 | KMT5B | c.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) | |
11 | g.68157933G>A | CA381587306 | KMT5B | c.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 |
11 | g.68157933G>C | CA381587307 | KMT5B | c.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 |
11 | g.68157933G>T | CA381587308 | KMT5B | c.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) | |
11 | g.68157934A>C | CA381587312 | KMT5B | c.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) | |
11 | g.68157934A>G | CA475514715 | KMT5B | c.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=) | |
11 | g.68157934A>T | CA381587309 | KMT5B | c.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) | |
11 | g.68157935T>A | CA381587315 | KMT5B | c.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) | |
11 | g.68157935T>C | CA381587317 | KMT5B | c.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 |
11 | g.68157935T>G | CA381587318 | KMT5B | c.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) | |
11 | g.68157936C>A | CA381587321 | KMT5B | c.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) | |
11 | g.68157936C>G | CA381587322 | KMT5B | c.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) | |
11 | g.68157936C>T | CA381587325 | KMT5B | c.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) | |
11 | g.68157937A= | CA1980500270 | KMT5B | c.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=) | |
11 | g.68157937A>C | CA381587326 | KMT5B | c.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) | |
11 | g.68157937A>G | CA6148015 | KMT5B | c.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 |
11 | g.68157937A>T | CA381587327 | KMT5B | c.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) | |
11 | g.68157938C>A | CA381587330 | KMT5B | c.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 |
11 | g.68157938C>G | CA381587331 | KMT5B | c.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 |
11 | g.68157938C>T | CA381587332 | KMT5B | c.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) | |
11 | g.68157939T>A | CA381587333 | KMT5B | c.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) | |
11 | g.68157939T>C | CA224247937 | KMT5B | c.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 |
11 | g.68157939T>G | CA381587335 | KMT5B | c.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) | |
11 | g.68157939T= | CA1980500285 | KMT5B | c.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=) | |
11 | g.68157940G>A | CA475514716 | KMT5B | c.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 |
11 | g.68157940G>C | CA381587337 | KMT5B | c.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) | |
11 | g.68157940G= | CA1980500289 | KMT5B | c.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=) | |
11 | g.68157940G>T | CA381587340 | KMT5B | c.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) | |
11 | g.68157941C>A | CA381587341 | KMT5B | c.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 |
11 | g.68157941C= | CA1980500294 | KMT5B | c.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=) | |
11 | g.68157941C>G | CA381587346 | KMT5B | c.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) | |
11 | g.68157941C>T | CA381587349 | KMT5B | c.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) | |
11 | g.68157942A>C | CA381587356 | KMT5B | c.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) | |
11 | g.68157942A>G | CA381587367 | KMT5B | c.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 |
11 | g.68157942A>T | CA381587352 | KMT5B | c.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) | |
11 | g.68157943G>A | CA475514717 | KMT5B | c.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=) | |
11 | g.68157943G>C | CA381587371 | KMT5B | c.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) | |
11 | g.68157943G>T | CA381587380 | KMT5B | c.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) | |
11 | g.68157944C>A | CA381587384 | KMT5B | c.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) | |
11 | g.68157944C>G | CA381587386 | KMT5B | c.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) | |
11 | g.68157944C>T | CA381587390 | KMT5B | c.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) | |
11 | g.68157945A>C | CA381587397 | KMT5B | c.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) | |
11 | g.68157945A>G | CA381587396 | KMT5B | c.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) | |
11 | g.68157945A>T | CA381587393 | KMT5B | c.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) | |
11 | g.68157946C>A | CA475514718 | KMT5B | c.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=) | |
11 | g.68157946C= | CA1980500297 | KMT5B | c.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=) | |
11 | g.68157946C>G | CA475514719 | KMT5B | c.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=) | |
11 | g.68157946C>T | CA475514720 | KMT5B | c.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 |
11 | g.68157947A>C | CA381587400 | KMT5B | c.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) | |
11 | g.68157947A>G | CA381587401 | KMT5B | c.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) | |
11 | g.68157947A>T | CA381587405 | KMT5B | c.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) | |
11 | g.68157948C>A | CA381587410 | KMT5B | c.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) | |
11 | g.68157948C>G | CA381587414 | KMT5B | c.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) | |
11 | g.68157948C>T | CA381587419 | KMT5B | c.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 |
11 | g.68157950_68157951del | CA645596786 | KMT5B | c.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 |
11 | g.68157949C>A | CA475514721 | KMT5B | c.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 |
11 | g.68157949C= | CA1980500306 | KMT5B | c.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=) | |
11 | g.68157949C>G | CA475514722 | KMT5B | c.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=) | |
11 | g.68157949C>T | CA475514723 | KMT5B | c.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 |
11 | g.68157950C>A | CA381587432 | KMT5B | c.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) | |
11 | g.68157950C>G | CA381587423 | KMT5B | c.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) | |
11 | g.68157950C>T | CA381587429 | KMT5B | c.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) | |
11 | g.68157951C>A | CA381587436 | KMT5B | c.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) | |
11 | g.68157951C= | CA1980500310 | KMT5B | c.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=) | |
11 | g.68157951C>G | CA6148016 | KMT5B | c.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 |
11 | g.68157951C>T | CA381587447 | KMT5B | c.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) |