Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503556C>ACA382806397KMT2Ac.7763C>A (p.Ser2588Ter)
c.7754C>A (p.Ser2585Ter)
c.1703C>A (p.Ser568Ter)
c.1961C>A (p.Ser654Ter)
c.7736C>A (p.Ser2579Ter)
c.7655C>A (p.Ser2552Ter)
n.7006C>A
c.7664C>A (p.Ser2555Ter)
c.7541C>A (p.Ser2514Ter)
n.1791C>A
c.5147C>A (p.Ser1716Ter)
c.7760C>A (p.Ser2587Ter)
c.5570C>A (p.Ser1857Ter)
c.5246C>A (p.Ser1749Ter)
 dbSNP
11g.118503556C>GCA382806400KMT2Ac.7763C>G (p.Ser2588Ter)
c.7754C>G (p.Ser2585Ter)
c.1703C>G (p.Ser568Ter)
c.1961C>G (p.Ser654Ter)
c.7736C>G (p.Ser2579Ter)
c.7655C>G (p.Ser2552Ter)
n.7006C>G
c.7664C>G (p.Ser2555Ter)
c.7541C>G (p.Ser2514Ter)
n.1791C>G
c.5147C>G (p.Ser1716Ter)
c.7760C>G (p.Ser2587Ter)
c.5570C>G (p.Ser1857Ter)
c.5246C>G (p.Ser1749Ter)
11g.118503556C>TCA382806407KMT2Ac.7763C>T (p.Ser2588Leu)
c.7754C>T (p.Ser2585Leu)
c.1703C>T (p.Ser568Leu)
c.1961C>T (p.Ser654Leu)
c.7736C>T (p.Ser2579Leu)
c.7655C>T (p.Ser2552Leu)
n.7006C>T
c.7664C>T (p.Ser2555Leu)
c.7541C>T (p.Ser2514Leu)
n.1791C>T
c.5147C>T (p.Ser1716Leu)
c.7760C>T (p.Ser2587Leu)
c.5570C>T (p.Ser1857Leu)
c.5246C>T (p.Ser1749Leu)
11g.118503557A>CCA477359929KMT2Ac.7764A>C (p.Ser2588=)
c.7755A>C (p.Ser2585=)
c.1704A>C (p.Ser568=)
c.1962A>C (p.Ser654=)
c.7737A>C (p.Ser2579=)
c.7656A>C (p.Ser2552=)
n.7007A>C
c.7665A>C (p.Ser2555=)
c.7542A>C (p.Ser2514=)
n.1792A>C
c.5148A>C (p.Ser1716=)
c.7761A>C (p.Ser2587=)
c.5571A>C (p.Ser1857=)
c.5247A>C (p.Ser1749=)
11g.118503557A>GCA477359930KMT2Ac.7764A>G (p.Ser2588=)
c.7755A>G (p.Ser2585=)
c.1704A>G (p.Ser568=)
c.1962A>G (p.Ser654=)
c.7737A>G (p.Ser2579=)
c.7656A>G (p.Ser2552=)
n.7007A>G
c.7665A>G (p.Ser2555=)
c.7542A>G (p.Ser2514=)
n.1792A>G
c.5148A>G (p.Ser1716=)
c.7761A>G (p.Ser2587=)
c.5571A>G (p.Ser1857=)
c.5247A>G (p.Ser1749=)
11g.118503557A>TCA477359931KMT2Ac.7764A>T (p.Ser2588=)
c.7755A>T (p.Ser2585=)
c.1704A>T (p.Ser568=)
c.1962A>T (p.Ser654=)
c.7737A>T (p.Ser2579=)
c.7656A>T (p.Ser2552=)
n.7007A>T
c.7665A>T (p.Ser2555=)
c.7542A>T (p.Ser2514=)
n.1792A>T
c.5148A>T (p.Ser1716=)
c.7761A>T (p.Ser2587=)
c.5571A>T (p.Ser1857=)
c.5247A>T (p.Ser1749=)
 gnomAD v4
11g.118503558A=CA2003528006KMT2Ac.7765A= (p.Thr2589=)
c.7756A= (p.Thr2586=)
c.1705A= (p.Thr569=)
c.1963A= (p.Thr655=)
c.7738A= (p.Thr2580=)
c.7657A= (p.Thr2553=)
n.7008A=
c.7666A= (p.Thr2556=)
c.7543A= (p.Thr2515=)
n.1793A=
c.5149A= (p.Thr1717=)
c.7762A= (p.Thr2588=)
c.5572A= (p.Thr1858=)
c.5248A= (p.Thr1750=)
11g.118503558A>CCA6304421KMT2Ac.7765A>C (p.Thr2589Pro)
c.7756A>C (p.Thr2586Pro)
c.1705A>C (p.Thr569Pro)
c.1963A>C (p.Thr655Pro)
c.7738A>C (p.Thr2580Pro)
c.7657A>C (p.Thr2553Pro)
n.7008A>C
c.7666A>C (p.Thr2556Pro)
c.7543A>C (p.Thr2515Pro)
n.1793A>C
c.5149A>C (p.Thr1717Pro)
c.7762A>C (p.Thr2588Pro)
c.5572A>C (p.Thr1858Pro)
c.5248A>C (p.Thr1750Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503558A>GCA382806409KMT2Ac.7765A>G (p.Thr2589Ala)
c.7756A>G (p.Thr2586Ala)
c.1705A>G (p.Thr569Ala)
c.1963A>G (p.Thr655Ala)
c.7738A>G (p.Thr2580Ala)
c.7657A>G (p.Thr2553Ala)
n.7008A>G
c.7666A>G (p.Thr2556Ala)
c.7543A>G (p.Thr2515Ala)
n.1793A>G
c.5149A>G (p.Thr1717Ala)
c.7762A>G (p.Thr2588Ala)
c.5572A>G (p.Thr1858Ala)
c.5248A>G (p.Thr1750Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.118503558A>TCA382806412KMT2Ac.7765A>T (p.Thr2589Ser)
c.7756A>T (p.Thr2586Ser)
c.1705A>T (p.Thr569Ser)
c.1963A>T (p.Thr655Ser)
c.7738A>T (p.Thr2580Ser)
c.7657A>T (p.Thr2553Ser)
n.7008A>T
c.7666A>T (p.Thr2556Ser)
c.7543A>T (p.Thr2515Ser)
n.1793A>T
c.5149A>T (p.Thr1717Ser)
c.7762A>T (p.Thr2588Ser)
c.5572A>T (p.Thr1858Ser)
c.5248A>T (p.Thr1750Ser)
11g.118503559C>ACA382806416KMT2Ac.7766C>A (p.Thr2589Lys)
c.7757C>A (p.Thr2586Lys)
c.1706C>A (p.Thr569Lys)
c.1964C>A (p.Thr655Lys)
c.7739C>A (p.Thr2580Lys)
c.7658C>A (p.Thr2553Lys)
n.7009C>A
c.7667C>A (p.Thr2556Lys)
c.7544C>A (p.Thr2515Lys)
n.1794C>A
c.5150C>A (p.Thr1717Lys)
c.7763C>A (p.Thr2588Lys)
c.5573C>A (p.Thr1858Lys)
c.5249C>A (p.Thr1750Lys)
 dbSNP
11g.118503559C>GCA382806418KMT2Ac.7766C>G (p.Thr2589Arg)
c.7757C>G (p.Thr2586Arg)
c.1706C>G (p.Thr569Arg)
c.1964C>G (p.Thr655Arg)
c.7739C>G (p.Thr2580Arg)
c.7658C>G (p.Thr2553Arg)
n.7009C>G
c.7667C>G (p.Thr2556Arg)
c.7544C>G (p.Thr2515Arg)
n.1794C>G
c.5150C>G (p.Thr1717Arg)
c.7763C>G (p.Thr2588Arg)
c.5573C>G (p.Thr1858Arg)
c.5249C>G (p.Thr1750Arg)
11g.118503559C>TCA382806420KMT2Ac.7766C>T (p.Thr2589Ile)
c.7757C>T (p.Thr2586Ile)
c.1706C>T (p.Thr569Ile)
c.1964C>T (p.Thr655Ile)
c.7739C>T (p.Thr2580Ile)
c.7658C>T (p.Thr2553Ile)
n.7009C>T
c.7667C>T (p.Thr2556Ile)
c.7544C>T (p.Thr2515Ile)
n.1794C>T
c.5150C>T (p.Thr1717Ile)
c.7763C>T (p.Thr2588Ile)
c.5573C>T (p.Thr1858Ile)
c.5249C>T (p.Thr1750Ile)
 dbSNP
11g.118503560A=CA2003528008KMT2Ac.7767A= (p.Thr2589=)
c.7758A= (p.Thr2586=)
c.1707A= (p.Thr569=)
c.1965A= (p.Thr655=)
c.7740A= (p.Thr2580=)
c.7659A= (p.Thr2553=)
n.7010A=
c.7668A= (p.Thr2556=)
c.7545A= (p.Thr2515=)
n.1795A=
c.5151A= (p.Thr1717=)
c.7764A= (p.Thr2588=)
c.5574A= (p.Thr1858=)
c.5250A= (p.Thr1750=)
11g.118503560A>CCA477359932KMT2Ac.7767A>C (p.Thr2589=)
c.7758A>C (p.Thr2586=)
c.1707A>C (p.Thr569=)
c.1965A>C (p.Thr655=)
c.7740A>C (p.Thr2580=)
c.7659A>C (p.Thr2553=)
n.7010A>C
c.7668A>C (p.Thr2556=)
c.7545A>C (p.Thr2515=)
n.1795A>C
c.5151A>C (p.Thr1717=)
c.7764A>C (p.Thr2588=)
c.5574A>C (p.Thr1858=)
c.5250A>C (p.Thr1750=)
11g.118503560A>GCA6304422KMT2Ac.7767A>G (p.Thr2589=)
c.7758A>G (p.Thr2586=)
c.1707A>G (p.Thr569=)
c.1965A>G (p.Thr655=)
c.7740A>G (p.Thr2580=)
c.7659A>G (p.Thr2553=)
n.7010A>G
c.7668A>G (p.Thr2556=)
c.7545A>G (p.Thr2515=)
n.1795A>G
c.5151A>G (p.Thr1717=)
c.7764A>G (p.Thr2588=)
c.5574A>G (p.Thr1858=)
c.5250A>G (p.Thr1750=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503560A>TCA477359933KMT2Ac.7767A>T (p.Thr2589=)
c.7758A>T (p.Thr2586=)
c.1707A>T (p.Thr569=)
c.1965A>T (p.Thr655=)
c.7740A>T (p.Thr2580=)
c.7659A>T (p.Thr2553=)
n.7010A>T
c.7668A>T (p.Thr2556=)
c.7545A>T (p.Thr2515=)
n.1795A>T
c.5151A>T (p.Thr1717=)
c.7764A>T (p.Thr2588=)
c.5574A>T (p.Thr1858=)
c.5250A>T (p.Thr1750=)
11g.118503561T>ACA382806431KMT2Ac.7768T>A (p.Ser2590Thr)
c.7759T>A (p.Ser2587Thr)
c.1708T>A (p.Ser570Thr)
c.1966T>A (p.Ser656Thr)
c.7741T>A (p.Ser2581Thr)
c.7660T>A (p.Ser2554Thr)
n.7011T>A
c.7669T>A (p.Ser2557Thr)
c.7546T>A (p.Ser2516Thr)
n.1796T>A
c.5152T>A (p.Ser1718Thr)
c.7765T>A (p.Ser2589Thr)
c.5575T>A (p.Ser1859Thr)
c.5251T>A (p.Ser1751Thr)
11g.118503561T>CCA382806433KMT2Ac.7768T>C (p.Ser2590Pro)
c.7759T>C (p.Ser2587Pro)
c.1708T>C (p.Ser570Pro)
c.1966T>C (p.Ser656Pro)
c.7741T>C (p.Ser2581Pro)
c.7660T>C (p.Ser2554Pro)
n.7011T>C
c.7669T>C (p.Ser2557Pro)
c.7546T>C (p.Ser2516Pro)
n.1796T>C
c.5152T>C (p.Ser1718Pro)
c.7765T>C (p.Ser2589Pro)
c.5575T>C (p.Ser1859Pro)
c.5251T>C (p.Ser1751Pro)
11g.118503561T>GCA382806435KMT2Ac.7768T>G (p.Ser2590Ala)
c.7759T>G (p.Ser2587Ala)
c.1708T>G (p.Ser570Ala)
c.1966T>G (p.Ser656Ala)
c.7741T>G (p.Ser2581Ala)
c.7660T>G (p.Ser2554Ala)
n.7011T>G
c.7669T>G (p.Ser2557Ala)
c.7546T>G (p.Ser2516Ala)
n.1796T>G
c.5152T>G (p.Ser1718Ala)
c.7765T>G (p.Ser2589Ala)
c.5575T>G (p.Ser1859Ala)
c.5251T>G (p.Ser1751Ala)
11g.118503562C>ACA382806451KMT2Ac.7769C>A (p.Ser2590Tyr)
c.7760C>A (p.Ser2587Tyr)
c.1709C>A (p.Ser570Tyr)
c.1967C>A (p.Ser656Tyr)
c.7742C>A (p.Ser2581Tyr)
c.7661C>A (p.Ser2554Tyr)
n.7012C>A
c.7670C>A (p.Ser2557Tyr)
c.7547C>A (p.Ser2516Tyr)
n.1797C>A
c.5153C>A (p.Ser1718Tyr)
c.7766C>A (p.Ser2589Tyr)
c.5576C>A (p.Ser1859Tyr)
c.5252C>A (p.Ser1751Tyr)
11g.118503562C>GCA382806465KMT2Ac.7769C>G (p.Ser2590Cys)
c.7760C>G (p.Ser2587Cys)
c.1709C>G (p.Ser570Cys)
c.1967C>G (p.Ser656Cys)
c.7742C>G (p.Ser2581Cys)
c.7661C>G (p.Ser2554Cys)
n.7012C>G
c.7670C>G (p.Ser2557Cys)
c.7547C>G (p.Ser2516Cys)
n.1797C>G
c.5153C>G (p.Ser1718Cys)
c.7766C>G (p.Ser2589Cys)
c.5576C>G (p.Ser1859Cys)
c.5252C>G (p.Ser1751Cys)
11g.118503562C>TCA382806454KMT2Ac.7769C>T (p.Ser2590Phe)
c.7760C>T (p.Ser2587Phe)
c.1709C>T (p.Ser570Phe)
c.1967C>T (p.Ser656Phe)
c.7742C>T (p.Ser2581Phe)
c.7661C>T (p.Ser2554Phe)
n.7012C>T
c.7670C>T (p.Ser2557Phe)
c.7547C>T (p.Ser2516Phe)
n.1797C>T
c.5153C>T (p.Ser1718Phe)
c.7766C>T (p.Ser2589Phe)
c.5576C>T (p.Ser1859Phe)
c.5252C>T (p.Ser1751Phe)
 dbSNP
11g.118503563T>ACA477359936KMT2Ac.7770T>A (p.Ser2590=)
c.7761T>A (p.Ser2587=)
c.1710T>A (p.Ser570=)
c.1968T>A (p.Ser656=)
c.7743T>A (p.Ser2581=)
c.7662T>A (p.Ser2554=)
n.7013T>A
c.7671T>A (p.Ser2557=)
c.7548T>A (p.Ser2516=)
n.1798T>A
c.5154T>A (p.Ser1718=)
c.7767T>A (p.Ser2589=)
c.5577T>A (p.Ser1859=)
c.5253T>A (p.Ser1751=)
11g.118503563T>CCA477359937KMT2Ac.7770T>C (p.Ser2590=)
c.7761T>C (p.Ser2587=)
c.1710T>C (p.Ser570=)
c.1968T>C (p.Ser656=)
c.7743T>C (p.Ser2581=)
c.7662T>C (p.Ser2554=)
n.7013T>C
c.7671T>C (p.Ser2557=)
c.7548T>C (p.Ser2516=)
n.1798T>C
c.5154T>C (p.Ser1718=)
c.7767T>C (p.Ser2589=)
c.5577T>C (p.Ser1859=)
c.5253T>C (p.Ser1751=)
11g.118503563T>GCA477359938KMT2Ac.7770T>G (p.Ser2590=)
c.7761T>G (p.Ser2587=)
c.1710T>G (p.Ser570=)
c.1968T>G (p.Ser656=)
c.7743T>G (p.Ser2581=)
c.7662T>G (p.Ser2554=)
n.7013T>G
c.7671T>G (p.Ser2557=)
c.7548T>G (p.Ser2516=)
n.1798T>G
c.5154T>G (p.Ser1718=)
c.7767T>G (p.Ser2589=)
c.5577T>G (p.Ser1859=)
c.5253T>G (p.Ser1751=)
 gnomAD v4
11g.118503564C>ACA382806468KMT2Ac.7771C>A (p.Pro2591Thr)
c.7762C>A (p.Pro2588Thr)
c.1711C>A (p.Pro571Thr)
c.1969C>A (p.Pro657Thr)
c.7744C>A (p.Pro2582Thr)
c.7663C>A (p.Pro2555Thr)
n.7014C>A
c.7672C>A (p.Pro2558Thr)
c.7549C>A (p.Pro2517Thr)
n.1799C>A
c.5155C>A (p.Pro1719Thr)
c.7768C>A (p.Pro2590Thr)
c.5578C>A (p.Pro1860Thr)
c.5254C>A (p.Pro1752Thr)
11g.118503564C=CA2003528009KMT2Ac.7771C= (p.Pro2591=)
c.7762C= (p.Pro2588=)
c.1711C= (p.Pro571=)
c.1969C= (p.Pro657=)
c.7744C= (p.Pro2582=)
c.7663C= (p.Pro2555=)
n.7014C=
c.7672C= (p.Pro2558=)
c.7549C= (p.Pro2517=)
n.1799C=
c.5155C= (p.Pro1719=)
c.7768C= (p.Pro2590=)
c.5578C= (p.Pro1860=)
c.5254C= (p.Pro1752=)
11g.118503564C>GCA382806471KMT2Ac.7771C>G (p.Pro2591Ala)
c.7762C>G (p.Pro2588Ala)
c.1711C>G (p.Pro571Ala)
c.1969C>G (p.Pro657Ala)
c.7744C>G (p.Pro2582Ala)
c.7663C>G (p.Pro2555Ala)
n.7014C>G
c.7672C>G (p.Pro2558Ala)
c.7549C>G (p.Pro2517Ala)
n.1799C>G
c.5155C>G (p.Pro1719Ala)
c.7768C>G (p.Pro2590Ala)
c.5578C>G (p.Pro1860Ala)
c.5254C>G (p.Pro1752Ala)
11g.118503564C>TCA382806472KMT2Ac.7771C>T (p.Pro2591Ser)
c.7762C>T (p.Pro2588Ser)
c.1711C>T (p.Pro571Ser)
c.1969C>T (p.Pro657Ser)
c.7744C>T (p.Pro2582Ser)
c.7663C>T (p.Pro2555Ser)
n.7014C>T
c.7672C>T (p.Pro2558Ser)
c.7549C>T (p.Pro2517Ser)
n.1799C>T
c.5155C>T (p.Pro1719Ser)
c.7768C>T (p.Pro2590Ser)
c.5578C>T (p.Pro1860Ser)
c.5254C>T (p.Pro1752Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.118503565C>ACA382806476KMT2Ac.7772C>A (p.Pro2591His)
c.7763C>A (p.Pro2588His)
c.1712C>A (p.Pro571His)
c.1970C>A (p.Pro657His)
c.7745C>A (p.Pro2582His)
c.7664C>A (p.Pro2555His)
n.7015C>A
c.7673C>A (p.Pro2558His)
c.7550C>A (p.Pro2517His)
c.5156C>A (p.Pro1719His)
c.7769C>A (p.Pro2590His)
c.5579C>A (p.Pro1860His)
c.5255C>A (p.Pro1752His)
11g.118503565C=CA2003528011KMT2Ac.7772C= (p.Pro2591=)
c.7763C= (p.Pro2588=)
c.1712C= (p.Pro571=)
c.1970C= (p.Pro657=)
c.7745C= (p.Pro2582=)
c.7664C= (p.Pro2555=)
n.7015C=
c.7673C= (p.Pro2558=)
c.7550C= (p.Pro2517=)
c.5156C= (p.Pro1719=)
c.7769C= (p.Pro2590=)
c.5579C= (p.Pro1860=)
c.5255C= (p.Pro1752=)
11g.118503565C>GCA382806478KMT2Ac.7772C>G (p.Pro2591Arg)
c.7763C>G (p.Pro2588Arg)
c.1712C>G (p.Pro571Arg)
c.1970C>G (p.Pro657Arg)
c.7745C>G (p.Pro2582Arg)
c.7664C>G (p.Pro2555Arg)
n.7015C>G
c.7673C>G (p.Pro2558Arg)
c.7550C>G (p.Pro2517Arg)
c.5156C>G (p.Pro1719Arg)
c.7769C>G (p.Pro2590Arg)
c.5579C>G (p.Pro1860Arg)
c.5255C>G (p.Pro1752Arg)
11g.118503565C>TCA382806481KMT2Ac.7772C>T (p.Pro2591Leu)
c.7763C>T (p.Pro2588Leu)
c.1712C>T (p.Pro571Leu)
c.1970C>T (p.Pro657Leu)
c.7745C>T (p.Pro2582Leu)
c.7664C>T (p.Pro2555Leu)
n.7015C>T
c.7673C>T (p.Pro2558Leu)
c.7550C>T (p.Pro2517Leu)
c.5156C>T (p.Pro1719Leu)
c.7769C>T (p.Pro2590Leu)
c.5579C>T (p.Pro1860Leu)
c.5255C>T (p.Pro1752Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118503566C>ACA477359944KMT2Ac.7773C>A (p.Pro2591=)
c.7764C>A (p.Pro2588=)
c.1713C>A (p.Pro571=)
c.1971C>A (p.Pro657=)
c.7746C>A (p.Pro2582=)
c.7665C>A (p.Pro2555=)
n.7016C>A
c.7674C>A (p.Pro2558=)
c.7551C>A (p.Pro2517=)
c.5157C>A (p.Pro1719=)
c.7770C>A (p.Pro2590=)
c.5580C>A (p.Pro1860=)
c.5256C>A (p.Pro1752=)
 dbSNP
11g.118503566C>GCA477359946KMT2Ac.7773C>G (p.Pro2591=)
c.7764C>G (p.Pro2588=)
c.1713C>G (p.Pro571=)
c.1971C>G (p.Pro657=)
c.7746C>G (p.Pro2582=)
c.7665C>G (p.Pro2555=)
n.7016C>G
c.7674C>G (p.Pro2558=)
c.7551C>G (p.Pro2517=)
c.5157C>G (p.Pro1719=)
c.7770C>G (p.Pro2590=)
c.5580C>G (p.Pro1860=)
c.5256C>G (p.Pro1752=)
11g.118503566C>TCA477359947KMT2Ac.7773C>T (p.Pro2591=)
c.7764C>T (p.Pro2588=)
c.1713C>T (p.Pro571=)
c.1971C>T (p.Pro657=)
c.7746C>T (p.Pro2582=)
c.7665C>T (p.Pro2555=)
n.7016C>T
c.7674C>T (p.Pro2558=)
c.7551C>T (p.Pro2517=)
c.5157C>T (p.Pro1719=)
c.7770C>T (p.Pro2590=)
c.5580C>T (p.Pro1860=)
c.5256C>T (p.Pro1752=)
11g.118503567A>CCA382806485KMT2Ac.7774A>C (p.Thr2592Pro)
c.7765A>C (p.Thr2589Pro)
c.1714A>C (p.Thr572Pro)
c.1972A>C (p.Thr658Pro)
c.7747A>C (p.Thr2583Pro)
c.7666A>C (p.Thr2556Pro)
n.7017A>C
c.7675A>C (p.Thr2559Pro)
c.7552A>C (p.Thr2518Pro)
c.5158A>C (p.Thr1720Pro)
c.7771A>C (p.Thr2591Pro)
c.5581A>C (p.Thr1861Pro)
c.5257A>C (p.Thr1753Pro)
 gnomAD v4
11g.118503567A>GCA382806487KMT2Ac.7774A>G (p.Thr2592Ala)
c.7765A>G (p.Thr2589Ala)
c.1714A>G (p.Thr572Ala)
c.1972A>G (p.Thr658Ala)
c.7747A>G (p.Thr2583Ala)
c.7666A>G (p.Thr2556Ala)
n.7017A>G
c.7675A>G (p.Thr2559Ala)
c.7552A>G (p.Thr2518Ala)
c.5158A>G (p.Thr1720Ala)
c.7771A>G (p.Thr2591Ala)
c.5581A>G (p.Thr1861Ala)
c.5257A>G (p.Thr1753Ala)
11g.118503567A>TCA382806491KMT2Ac.7774A>T (p.Thr2592Ser)
c.7765A>T (p.Thr2589Ser)
c.1714A>T (p.Thr572Ser)
c.1972A>T (p.Thr658Ser)
c.7747A>T (p.Thr2583Ser)
c.7666A>T (p.Thr2556Ser)
n.7017A>T
c.7675A>T (p.Thr2559Ser)
c.7552A>T (p.Thr2518Ser)
c.5158A>T (p.Thr1720Ser)
c.7771A>T (p.Thr2591Ser)
c.5581A>T (p.Thr1861Ser)
c.5257A>T (p.Thr1753Ser)
11g.118503568C>ACA6304423KMT2Ac.7775C>A (p.Thr2592Lys)
c.7766C>A (p.Thr2589Lys)
c.1715C>A (p.Thr572Lys)
c.1973C>A (p.Thr658Lys)
c.7748C>A (p.Thr2583Lys)
c.7667C>A (p.Thr2556Lys)
n.7018C>A
c.7676C>A (p.Thr2559Lys)
c.7553C>A (p.Thr2518Lys)
c.5159C>A (p.Thr1720Lys)
c.7772C>A (p.Thr2591Lys)
c.5582C>A (p.Thr1861Lys)
c.5258C>A (p.Thr1753Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503568C=CA2003528013KMT2Ac.7775C= (p.Thr2592=)
c.7766C= (p.Thr2589=)
c.1715C= (p.Thr572=)
c.1973C= (p.Thr658=)
c.7748C= (p.Thr2583=)
c.7667C= (p.Thr2556=)
n.7018C=
c.7676C= (p.Thr2559=)
c.7553C= (p.Thr2518=)
c.5159C= (p.Thr1720=)
c.7772C= (p.Thr2591=)
c.5582C= (p.Thr1861=)
c.5258C= (p.Thr1753=)
11g.118503568C>GCA382806497KMT2Ac.7775C>G (p.Thr2592Arg)
c.7766C>G (p.Thr2589Arg)
c.1715C>G (p.Thr572Arg)
c.1973C>G (p.Thr658Arg)
c.7748C>G (p.Thr2583Arg)
c.7667C>G (p.Thr2556Arg)
n.7018C>G
c.7676C>G (p.Thr2559Arg)
c.7553C>G (p.Thr2518Arg)
c.5159C>G (p.Thr1720Arg)
c.7772C>G (p.Thr2591Arg)
c.5582C>G (p.Thr1861Arg)
c.5258C>G (p.Thr1753Arg)
 dbSNP
11g.118503568C>TCA382806494KMT2Ac.7775C>T (p.Thr2592Ile)
c.7766C>T (p.Thr2589Ile)
c.1715C>T (p.Thr572Ile)
c.1973C>T (p.Thr658Ile)
c.7748C>T (p.Thr2583Ile)
c.7667C>T (p.Thr2556Ile)
n.7018C>T
c.7676C>T (p.Thr2559Ile)
c.7553C>T (p.Thr2518Ile)
c.5159C>T (p.Thr1720Ile)
c.7772C>T (p.Thr2591Ile)
c.5582C>T (p.Thr1861Ile)
c.5258C>T (p.Thr1753Ile)
 dbSNP gnomAD v4
11g.118503569A>CCA477359957KMT2Ac.7776A>C (p.Thr2592=)
c.7767A>C (p.Thr2589=)
c.1716A>C (p.Thr572=)
c.1974A>C (p.Thr658=)
c.7749A>C (p.Thr2583=)
c.7668A>C (p.Thr2556=)
n.7019A>C
c.7677A>C (p.Thr2559=)
c.7554A>C (p.Thr2518=)
c.5160A>C (p.Thr1720=)
c.7773A>C (p.Thr2591=)
c.5583A>C (p.Thr1861=)
c.5259A>C (p.Thr1753=)
11g.118503569A>GCA477359958KMT2Ac.7776A>G (p.Thr2592=)
c.7767A>G (p.Thr2589=)
c.1716A>G (p.Thr572=)
c.1974A>G (p.Thr658=)
c.7749A>G (p.Thr2583=)
c.7668A>G (p.Thr2556=)
n.7019A>G
c.7677A>G (p.Thr2559=)
c.7554A>G (p.Thr2518=)
c.5160A>G (p.Thr1720=)
c.7773A>G (p.Thr2591=)
c.5583A>G (p.Thr1861=)
c.5259A>G (p.Thr1753=)
11g.118503569A>TCA477359959KMT2Ac.7776A>T (p.Thr2592=)
c.7767A>T (p.Thr2589=)
c.1716A>T (p.Thr572=)
c.1974A>T (p.Thr658=)
c.7749A>T (p.Thr2583=)
c.7668A>T (p.Thr2556=)
n.7019A>T
c.7677A>T (p.Thr2559=)
c.7554A>T (p.Thr2518=)
c.5160A>T (p.Thr1720=)
c.7773A>T (p.Thr2591=)
c.5583A>T (p.Thr1861=)
c.5259A>T (p.Thr1753=)
11g.118503570G>ACA382806502KMT2Ac.7777G>A (p.Glu2593Lys)
c.7768G>A (p.Glu2590Lys)
c.1717G>A (p.Glu573Lys)
c.1975G>A (p.Glu659Lys)
c.7750G>A (p.Glu2584Lys)
c.7669G>A (p.Glu2557Lys)
n.7020G>A
c.7678G>A (p.Glu2560Lys)
c.7555G>A (p.Glu2519Lys)
c.5161G>A (p.Glu1721Lys)
c.7774G>A (p.Glu2592Lys)
c.5584G>A (p.Glu1862Lys)
c.5260G>A (p.Glu1754Lys)
11g.118503570G>CCA382806505KMT2Ac.7777G>C (p.Glu2593Gln)
c.7768G>C (p.Glu2590Gln)
c.1717G>C (p.Glu573Gln)
c.1975G>C (p.Glu659Gln)
c.7750G>C (p.Glu2584Gln)
c.7669G>C (p.Glu2557Gln)
n.7020G>C
c.7678G>C (p.Glu2560Gln)
c.7555G>C (p.Glu2519Gln)
c.5161G>C (p.Glu1721Gln)
c.7774G>C (p.Glu2592Gln)
c.5584G>C (p.Glu1862Gln)
c.5260G>C (p.Glu1754Gln)
11g.118503570G>TCA382806507KMT2Ac.7777G>T (p.Glu2593Ter)
c.7768G>T (p.Glu2590Ter)
c.1717G>T (p.Glu573Ter)
c.1975G>T (p.Glu659Ter)
c.7750G>T (p.Glu2584Ter)
c.7669G>T (p.Glu2557Ter)
n.7020G>T
c.7678G>T (p.Glu2560Ter)
c.7555G>T (p.Glu2519Ter)
c.5161G>T (p.Glu1721Ter)
c.7774G>T (p.Glu2592Ter)
c.5584G>T (p.Glu1862Ter)
c.5260G>T (p.Glu1754Ter)
11g.118503571A>CCA382806509KMT2Ac.7778A>C (p.Glu2593Ala)
c.7769A>C (p.Glu2590Ala)
c.1718A>C (p.Glu573Ala)
c.1976A>C (p.Glu659Ala)
c.7751A>C (p.Glu2584Ala)
c.7670A>C (p.Glu2557Ala)
n.7021A>C
c.7679A>C (p.Glu2560Ala)
c.7556A>C (p.Glu2519Ala)
c.5162A>C (p.Glu1721Ala)
c.7775A>C (p.Glu2592Ala)
c.5585A>C (p.Glu1862Ala)
c.5261A>C (p.Glu1754Ala)
11g.118503571A>GCA382806511KMT2Ac.7778A>G (p.Glu2593Gly)
c.7769A>G (p.Glu2590Gly)
c.1718A>G (p.Glu573Gly)
c.1976A>G (p.Glu659Gly)
c.7751A>G (p.Glu2584Gly)
c.7670A>G (p.Glu2557Gly)
n.7021A>G
c.7679A>G (p.Glu2560Gly)
c.7556A>G (p.Glu2519Gly)
c.5162A>G (p.Glu1721Gly)
c.7775A>G (p.Glu2592Gly)
c.5585A>G (p.Glu1862Gly)
c.5261A>G (p.Glu1754Gly)
11g.118503571A>TCA382806515KMT2Ac.7778A>T (p.Glu2593Val)
c.7769A>T (p.Glu2590Val)
c.1718A>T (p.Glu573Val)
c.1976A>T (p.Glu659Val)
c.7751A>T (p.Glu2584Val)
c.7670A>T (p.Glu2557Val)
n.7021A>T
c.7679A>T (p.Glu2560Val)
c.7556A>T (p.Glu2519Val)
c.5162A>T (p.Glu1721Val)
c.7775A>T (p.Glu2592Val)
c.5585A>T (p.Glu1862Val)
c.5261A>T (p.Glu1754Val)
11g.118503572A>CCA382806520KMT2Ac.7779A>C (p.Glu2593Asp)
c.7770A>C (p.Glu2590Asp)
c.1719A>C (p.Glu573Asp)
c.1977A>C (p.Glu659Asp)
c.7752A>C (p.Glu2584Asp)
c.7671A>C (p.Glu2557Asp)
n.7022A>C
c.7680A>C (p.Glu2560Asp)
c.7557A>C (p.Glu2519Asp)
c.5163A>C (p.Glu1721Asp)
c.7776A>C (p.Glu2592Asp)
c.5586A>C (p.Glu1862Asp)
c.5262A>C (p.Glu1754Asp)
11g.118503572A>GCA477359967KMT2Ac.7779A>G (p.Glu2593=)
c.7770A>G (p.Glu2590=)
c.1719A>G (p.Glu573=)
c.1977A>G (p.Glu659=)
c.7752A>G (p.Glu2584=)
c.7671A>G (p.Glu2557=)
n.7022A>G
c.7680A>G (p.Glu2560=)
c.7557A>G (p.Glu2519=)
c.5163A>G (p.Glu1721=)
c.7776A>G (p.Glu2592=)
c.5586A>G (p.Glu1862=)
c.5262A>G (p.Glu1754=)
11g.118503572A>TCA382806517KMT2Ac.7779A>T (p.Glu2593Asp)
c.7770A>T (p.Glu2590Asp)
c.1719A>T (p.Glu573Asp)
c.1977A>T (p.Glu659Asp)
c.7752A>T (p.Glu2584Asp)
c.7671A>T (p.Glu2557Asp)
n.7022A>T
c.7680A>T (p.Glu2560Asp)
c.7557A>T (p.Glu2519Asp)
c.5163A>T (p.Glu1721Asp)
c.7776A>T (p.Glu2592Asp)
c.5586A>T (p.Glu1862Asp)
c.5262A>T (p.Glu1754Asp)
11g.118503573C>ACA382806523KMT2Ac.7780C>A (p.Pro2594Thr)
c.7771C>A (p.Pro2591Thr)
c.1720C>A (p.Pro574Thr)
c.1978C>A (p.Pro660Thr)
c.7753C>A (p.Pro2585Thr)
c.7672C>A (p.Pro2558Thr)
n.7023C>A
c.7681C>A (p.Pro2561Thr)
c.7558C>A (p.Pro2520Thr)
c.5164C>A (p.Pro1722Thr)
c.7777C>A (p.Pro2593Thr)
c.5587C>A (p.Pro1863Thr)
c.5263C>A (p.Pro1755Thr)
 dbSNP
11g.118503573C=CA2003528016KMT2Ac.7780C= (p.Pro2594=)
c.7771C= (p.Pro2591=)
c.1720C= (p.Pro574=)
c.1978C= (p.Pro660=)
c.7753C= (p.Pro2585=)
c.7672C= (p.Pro2558=)
n.7023C=
c.7681C= (p.Pro2561=)
c.7558C= (p.Pro2520=)
c.5164C= (p.Pro1722=)
c.7777C= (p.Pro2593=)
c.5587C= (p.Pro1863=)
c.5263C= (p.Pro1755=)
11g.118503573C>GCA382806525KMT2Ac.7780C>G (p.Pro2594Ala)
c.7771C>G (p.Pro2591Ala)
c.1720C>G (p.Pro574Ala)
c.1978C>G (p.Pro660Ala)
c.7753C>G (p.Pro2585Ala)
c.7672C>G (p.Pro2558Ala)
n.7023C>G
c.7681C>G (p.Pro2561Ala)
c.7558C>G (p.Pro2520Ala)
c.5164C>G (p.Pro1722Ala)
c.7777C>G (p.Pro2593Ala)
c.5587C>G (p.Pro1863Ala)
c.5263C>G (p.Pro1755Ala)
 dbSNP
11g.118503573C>TCA382806528KMT2Ac.7780C>T (p.Pro2594Ser)
c.7771C>T (p.Pro2591Ser)
c.1720C>T (p.Pro574Ser)
c.1978C>T (p.Pro660Ser)
c.7753C>T (p.Pro2585Ser)
c.7672C>T (p.Pro2558Ser)
n.7023C>T
c.7681C>T (p.Pro2561Ser)
c.7558C>T (p.Pro2520Ser)
c.5164C>T (p.Pro1722Ser)
c.7777C>T (p.Pro2593Ser)
c.5587C>T (p.Pro1863Ser)
c.5263C>T (p.Pro1755Ser)
 gnomAD v4
11g.118503574C>ACA382806529KMT2Ac.7781C>A (p.Pro2594Gln)
c.7772C>A (p.Pro2591Gln)
c.1721C>A (p.Pro574Gln)
c.1979C>A (p.Pro660Gln)
c.7754C>A (p.Pro2585Gln)
c.7673C>A (p.Pro2558Gln)
n.7024C>A
c.7682C>A (p.Pro2561Gln)
c.7559C>A (p.Pro2520Gln)
c.5165C>A (p.Pro1722Gln)
c.7778C>A (p.Pro2593Gln)
c.5588C>A (p.Pro1863Gln)
c.5264C>A (p.Pro1755Gln)
 dbSNP
11g.118503574C=CA2003528018KMT2Ac.7781C= (p.Pro2594=)
c.7772C= (p.Pro2591=)
c.1721C= (p.Pro574=)
c.1979C= (p.Pro660=)
c.7754C= (p.Pro2585=)
c.7673C= (p.Pro2558=)
n.7024C=
c.7682C= (p.Pro2561=)
c.7559C= (p.Pro2520=)
c.5165C= (p.Pro1722=)
c.7778C= (p.Pro2593=)
c.5588C= (p.Pro1863=)
c.5264C= (p.Pro1755=)
11g.118503574C>GCA382806530KMT2Ac.7781C>G (p.Pro2594Arg)
c.7772C>G (p.Pro2591Arg)
c.1721C>G (p.Pro574Arg)
c.1979C>G (p.Pro660Arg)
c.7754C>G (p.Pro2585Arg)
c.7673C>G (p.Pro2558Arg)
n.7024C>G
c.7682C>G (p.Pro2561Arg)
c.7559C>G (p.Pro2520Arg)
c.5165C>G (p.Pro1722Arg)
c.7778C>G (p.Pro2593Arg)
c.5588C>G (p.Pro1863Arg)
c.5264C>G (p.Pro1755Arg)
11g.118503574C>TCA382806531KMT2Ac.7781C>T (p.Pro2594Leu)
c.7772C>T (p.Pro2591Leu)
c.1721C>T (p.Pro574Leu)
c.1979C>T (p.Pro660Leu)
c.7754C>T (p.Pro2585Leu)
c.7673C>T (p.Pro2558Leu)
n.7024C>T
c.7682C>T (p.Pro2561Leu)
c.7559C>T (p.Pro2520Leu)
c.5165C>T (p.Pro1722Leu)
c.7778C>T (p.Pro2593Leu)
c.5588C>T (p.Pro1863Leu)
c.5264C>T (p.Pro1755Leu)
 dbSNP gnomAD v4
11g.118503575A>CCA477359970KMT2Ac.7782A>C (p.Pro2594=)
c.7773A>C (p.Pro2591=)
c.1722A>C (p.Pro574=)
c.1980A>C (p.Pro660=)
c.7755A>C (p.Pro2585=)
c.7674A>C (p.Pro2558=)
n.7025A>C
c.7683A>C (p.Pro2561=)
c.7560A>C (p.Pro2520=)
c.5166A>C (p.Pro1722=)
c.7779A>C (p.Pro2593=)
c.5589A>C (p.Pro1863=)
c.5265A>C (p.Pro1755=)
11g.118503575A>GCA477359972KMT2Ac.7782A>G (p.Pro2594=)
c.7773A>G (p.Pro2591=)
c.1722A>G (p.Pro574=)
c.1980A>G (p.Pro660=)
c.7755A>G (p.Pro2585=)
c.7674A>G (p.Pro2558=)
n.7025A>G
c.7683A>G (p.Pro2561=)
c.7560A>G (p.Pro2520=)
c.5166A>G (p.Pro1722=)
c.7779A>G (p.Pro2593=)
c.5589A>G (p.Pro1863=)
c.5265A>G (p.Pro1755=)
 COSMIC COSMIC
11g.118503575A>TCA477359974KMT2Ac.7782A>T (p.Pro2594=)
c.7773A>T (p.Pro2591=)
c.1722A>T (p.Pro574=)
c.1980A>T (p.Pro660=)
c.7755A>T (p.Pro2585=)
c.7674A>T (p.Pro2558=)
n.7025A>T
c.7683A>T (p.Pro2561=)
c.7560A>T (p.Pro2520=)
c.5166A>T (p.Pro1722=)
c.7779A>T (p.Pro2593=)
c.5589A>T (p.Pro1863=)
c.5265A>T (p.Pro1755=)
11g.118503576A=CA2003528020KMT2Ac.7783A= (p.Ile2595=)
c.7774A= (p.Ile2592=)
c.1723A= (p.Ile575=)
c.1981A= (p.Ile661=)
c.7756A= (p.Ile2586=)
c.7675A= (p.Ile2559=)
n.7026A=
c.7684A= (p.Ile2562=)
c.7561A= (p.Ile2521=)
c.5167A= (p.Ile1723=)
c.7780A= (p.Ile2594=)
c.5590A= (p.Ile1864=)
c.5266A= (p.Ile1756=)
11g.118503576A>CCA382806535KMT2Ac.7783A>C (p.Ile2595Leu)
c.7774A>C (p.Ile2592Leu)
c.1723A>C (p.Ile575Leu)
c.1981A>C (p.Ile661Leu)
c.7756A>C (p.Ile2586Leu)
c.7675A>C (p.Ile2559Leu)
n.7026A>C
c.7684A>C (p.Ile2562Leu)
c.7561A>C (p.Ile2521Leu)
c.5167A>C (p.Ile1723Leu)
c.7780A>C (p.Ile2594Leu)
c.5590A>C (p.Ile1864Leu)
c.5266A>C (p.Ile1756Leu)
11g.118503576A>GCA382806539KMT2Ac.7783A>G (p.Ile2595Val)
c.7774A>G (p.Ile2592Val)
c.1723A>G (p.Ile575Val)
c.1981A>G (p.Ile661Val)
c.7756A>G (p.Ile2586Val)
c.7675A>G (p.Ile2559Val)
n.7026A>G
c.7684A>G (p.Ile2562Val)
c.7561A>G (p.Ile2521Val)
c.5167A>G (p.Ile1723Val)
c.7780A>G (p.Ile2594Val)
c.5590A>G (p.Ile1864Val)
c.5266A>G (p.Ile1756Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503576A>TCA382806536KMT2Ac.7783A>T (p.Ile2595Phe)
c.7774A>T (p.Ile2592Phe)
c.1723A>T (p.Ile575Phe)
c.1981A>T (p.Ile661Phe)
c.7756A>T (p.Ile2586Phe)
c.7675A>T (p.Ile2559Phe)
n.7026A>T
c.7684A>T (p.Ile2562Phe)
c.7561A>T (p.Ile2521Phe)
c.5167A>T (p.Ile1723Phe)
c.7780A>T (p.Ile2594Phe)
c.5590A>T (p.Ile1864Phe)
c.5266A>T (p.Ile1756Phe)
11g.118503577T>ACA382806543KMT2Ac.7784T>A (p.Ile2595Asn)
c.7775T>A (p.Ile2592Asn)
c.1724T>A (p.Ile575Asn)
c.1982T>A (p.Ile661Asn)
c.7757T>A (p.Ile2586Asn)
c.7676T>A (p.Ile2559Asn)
n.7027T>A
c.7685T>A (p.Ile2562Asn)
c.7562T>A (p.Ile2521Asn)
c.5168T>A (p.Ile1723Asn)
c.7781T>A (p.Ile2594Asn)
c.5591T>A (p.Ile1864Asn)
c.5267T>A (p.Ile1756Asn)
 COSMIC COSMIC
11g.118503577T>CCA382806546KMT2Ac.7784T>C (p.Ile2595Thr)
c.7775T>C (p.Ile2592Thr)
c.1724T>C (p.Ile575Thr)
c.1982T>C (p.Ile661Thr)
c.7757T>C (p.Ile2586Thr)
c.7676T>C (p.Ile2559Thr)
n.7027T>C
c.7685T>C (p.Ile2562Thr)
c.7562T>C (p.Ile2521Thr)
c.5168T>C (p.Ile1723Thr)
c.7781T>C (p.Ile2594Thr)
c.5591T>C (p.Ile1864Thr)
c.5267T>C (p.Ile1756Thr)
 gnomAD v4
11g.118503577T>GCA382806547KMT2Ac.7784T>G (p.Ile2595Ser)
c.7775T>G (p.Ile2592Ser)
c.1724T>G (p.Ile575Ser)
c.1982T>G (p.Ile661Ser)
c.7757T>G (p.Ile2586Ser)
c.7676T>G (p.Ile2559Ser)
n.7027T>G
c.7685T>G (p.Ile2562Ser)
c.7562T>G (p.Ile2521Ser)
c.5168T>G (p.Ile1723Ser)
c.7781T>G (p.Ile2594Ser)
c.5591T>G (p.Ile1864Ser)
c.5267T>G (p.Ile1756Ser)
11g.118503578T>ACA477359977KMT2Ac.7785T>A (p.Ile2595=)
c.7776T>A (p.Ile2592=)
c.1725T>A (p.Ile575=)
c.1983T>A (p.Ile661=)
c.7758T>A (p.Ile2586=)
c.7677T>A (p.Ile2559=)
n.7028T>A
c.7686T>A (p.Ile2562=)
c.7563T>A (p.Ile2521=)
c.5169T>A (p.Ile1723=)
c.7782T>A (p.Ile2594=)
c.5592T>A (p.Ile1864=)
c.5268T>A (p.Ile1756=)
11g.118503578T>CCA477359978KMT2Ac.7785T>C (p.Ile2595=)
c.7776T>C (p.Ile2592=)
c.1725T>C (p.Ile575=)
c.1983T>C (p.Ile661=)
c.7758T>C (p.Ile2586=)
c.7677T>C (p.Ile2559=)
n.7028T>C
c.7686T>C (p.Ile2562=)
c.7563T>C (p.Ile2521=)
c.5169T>C (p.Ile1723=)
c.7782T>C (p.Ile2594=)
c.5592T>C (p.Ile1864=)
c.5268T>C (p.Ile1756=)
11g.118503578T>GCA382806549KMT2Ac.7785T>G (p.Ile2595Met)
c.7776T>G (p.Ile2592Met)
c.1725T>G (p.Ile575Met)
c.1983T>G (p.Ile661Met)
c.7758T>G (p.Ile2586Met)
c.7677T>G (p.Ile2559Met)
n.7028T>G
c.7686T>G (p.Ile2562Met)
c.7563T>G (p.Ile2521Met)
c.5169T>G (p.Ile1723Met)
c.7782T>G (p.Ile2594Met)
c.5592T>G (p.Ile1864Met)
c.5268T>G (p.Ile1756Met)
11g.118503579T>ACA382806553KMT2Ac.7786T>A (p.Ser2596Thr)
c.7777T>A (p.Ser2593Thr)
c.1726T>A (p.Ser576Thr)
c.1984T>A (p.Ser662Thr)
c.7759T>A (p.Ser2587Thr)
c.7678T>A (p.Ser2560Thr)
n.7029T>A
c.7687T>A (p.Ser2563Thr)
c.7564T>A (p.Ser2522Thr)
c.5170T>A (p.Ser1724Thr)
c.7783T>A (p.Ser2595Thr)
c.5593T>A (p.Ser1865Thr)
c.5269T>A (p.Ser1757Thr)
11g.118503579T>CCA382806555KMT2Ac.7786T>C (p.Ser2596Pro)
c.7777T>C (p.Ser2593Pro)
c.1726T>C (p.Ser576Pro)
c.1984T>C (p.Ser662Pro)
c.7759T>C (p.Ser2587Pro)
c.7678T>C (p.Ser2560Pro)
n.7029T>C
c.7687T>C (p.Ser2563Pro)
c.7564T>C (p.Ser2522Pro)
c.5170T>C (p.Ser1724Pro)
c.7783T>C (p.Ser2595Pro)
c.5593T>C (p.Ser1865Pro)
c.5269T>C (p.Ser1757Pro)
 gnomAD v4
11g.118503579T>GCA6304424KMT2Ac.7786T>G (p.Ser2596Ala)
c.7777T>G (p.Ser2593Ala)
c.1726T>G (p.Ser576Ala)
c.1984T>G (p.Ser662Ala)
c.7759T>G (p.Ser2587Ala)
c.7678T>G (p.Ser2560Ala)
n.7029T>G
c.7687T>G (p.Ser2563Ala)
c.7564T>G (p.Ser2522Ala)
c.5170T>G (p.Ser1724Ala)
c.7783T>G (p.Ser2595Ala)
c.5593T>G (p.Ser1865Ala)
c.5269T>G (p.Ser1757Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503579T=CA2003528022KMT2Ac.7786T= (p.Ser2596=)
c.7777T= (p.Ser2593=)
c.1726T= (p.Ser576=)
c.1984T= (p.Ser662=)
c.7759T= (p.Ser2587=)
c.7678T= (p.Ser2560=)
n.7029T=
c.7687T= (p.Ser2563=)
c.7564T= (p.Ser2522=)
c.5170T= (p.Ser1724=)
c.7783T= (p.Ser2595=)
c.5593T= (p.Ser1865=)
c.5269T= (p.Ser1757=)
11g.118503580C>ACA382806556KMT2Ac.7787C>A (p.Ser2596Ter)
c.7778C>A (p.Ser2593Ter)
c.1727C>A (p.Ser576Ter)
c.1985C>A (p.Ser662Ter)
c.7760C>A (p.Ser2587Ter)
c.7679C>A (p.Ser2560Ter)
n.7030C>A
c.7688C>A (p.Ser2563Ter)
c.7565C>A (p.Ser2522Ter)
c.5171C>A (p.Ser1724Ter)
c.7784C>A (p.Ser2595Ter)
c.5594C>A (p.Ser1865Ter)
c.5270C>A (p.Ser1757Ter)
11g.118503580C>GCA382806557KMT2Ac.7787C>G (p.Ser2596Ter)
c.7778C>G (p.Ser2593Ter)
c.1727C>G (p.Ser576Ter)
c.1985C>G (p.Ser662Ter)
c.7760C>G (p.Ser2587Ter)
c.7679C>G (p.Ser2560Ter)
n.7030C>G
c.7688C>G (p.Ser2563Ter)
c.7565C>G (p.Ser2522Ter)
c.5171C>G (p.Ser1724Ter)
c.7784C>G (p.Ser2595Ter)
c.5594C>G (p.Ser1865Ter)
c.5270C>G (p.Ser1757Ter)
11g.118503580C>TCA382806559KMT2Ac.7787C>T (p.Ser2596Leu)
c.7778C>T (p.Ser2593Leu)
c.1727C>T (p.Ser576Leu)
c.1985C>T (p.Ser662Leu)
c.7760C>T (p.Ser2587Leu)
c.7679C>T (p.Ser2560Leu)
n.7030C>T
c.7688C>T (p.Ser2563Leu)
c.7565C>T (p.Ser2522Leu)
c.5171C>T (p.Ser1724Leu)
c.7784C>T (p.Ser2595Leu)
c.5594C>T (p.Ser1865Leu)
c.5270C>T (p.Ser1757Leu)
 gnomAD v4
11g.118503581A=CA2003528027KMT2Ac.7788A= (p.Ser2596=)
c.7779A= (p.Ser2593=)
c.1728A= (p.Ser576=)
c.1986A= (p.Ser662=)
c.7761A= (p.Ser2587=)
c.7680A= (p.Ser2560=)
n.7031A=
c.7689A= (p.Ser2563=)
c.7566A= (p.Ser2522=)
c.5172A= (p.Ser1724=)
c.7785A= (p.Ser2595=)
c.5595A= (p.Ser1865=)
c.5271A= (p.Ser1757=)
11g.118503581A>CCA477359981KMT2Ac.7788A>C (p.Ser2596=)
c.7779A>C (p.Ser2593=)
c.1728A>C (p.Ser576=)
c.1986A>C (p.Ser662=)
c.7761A>C (p.Ser2587=)
c.7680A>C (p.Ser2560=)
n.7031A>C
c.7689A>C (p.Ser2563=)
c.7566A>C (p.Ser2522=)
c.5172A>C (p.Ser1724=)
c.7785A>C (p.Ser2595=)
c.5595A>C (p.Ser1865=)
c.5271A>C (p.Ser1757=)
11g.118503581A>GCA6304425KMT2Ac.7788A>G (p.Ser2596=)
c.7779A>G (p.Ser2593=)
c.1728A>G (p.Ser576=)
c.1986A>G (p.Ser662=)
c.7761A>G (p.Ser2587=)
c.7680A>G (p.Ser2560=)
n.7031A>G
c.7689A>G (p.Ser2563=)
c.7566A>G (p.Ser2522=)
c.5172A>G (p.Ser1724=)
c.7785A>G (p.Ser2595=)
c.5595A>G (p.Ser1865=)
c.5271A>G (p.Ser1757=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503581A>TCA477359982KMT2Ac.7788A>T (p.Ser2596=)
c.7779A>T (p.Ser2593=)
c.1728A>T (p.Ser576=)
c.1986A>T (p.Ser662=)
c.7761A>T (p.Ser2587=)
c.7680A>T (p.Ser2560=)
n.7031A>T
c.7689A>T (p.Ser2563=)
c.7566A>T (p.Ser2522=)
c.5172A>T (p.Ser1724=)
c.7785A>T (p.Ser2595=)
c.5595A>T (p.Ser1865=)
c.5271A>T (p.Ser1757=)
11g.118503582G>ACA382806568KMT2Ac.7789G>A (p.Ala2597Thr)
c.7780G>A (p.Ala2594Thr)
c.1729G>A (p.Ala577Thr)
c.1987G>A (p.Ala663Thr)
c.7762G>A (p.Ala2588Thr)
c.7681G>A (p.Ala2561Thr)
n.7032G>A
c.7690G>A (p.Ala2564Thr)
c.7567G>A (p.Ala2523Thr)
c.5173G>A (p.Ala1725Thr)
c.7786G>A (p.Ala2596Thr)
c.5596G>A (p.Ala1866Thr)
c.5272G>A (p.Ala1758Thr)
 dbSNP
11g.118503582G>CCA6304426KMT2Ac.7789G>C (p.Ala2597Pro)
c.7780G>C (p.Ala2594Pro)
c.1729G>C (p.Ala577Pro)
c.1987G>C (p.Ala663Pro)
c.7762G>C (p.Ala2588Pro)
c.7681G>C (p.Ala2561Pro)
n.7032G>C
c.7690G>C (p.Ala2564Pro)
c.7567G>C (p.Ala2523Pro)
c.5173G>C (p.Ala1725Pro)
c.7786G>C (p.Ala2596Pro)
c.5596G>C (p.Ala1866Pro)
c.5272G>C (p.Ala1758Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503582G=CA2003528033KMT2Ac.7789G= (p.Ala2597=)
c.7780G= (p.Ala2594=)
c.1729G= (p.Ala577=)
c.1987G= (p.Ala663=)
c.7762G= (p.Ala2588=)
c.7681G= (p.Ala2561=)
n.7032G=
c.7690G= (p.Ala2564=)
c.7567G= (p.Ala2523=)
c.5173G= (p.Ala1725=)
c.7786G= (p.Ala2596=)
c.5596G= (p.Ala1866=)
c.5272G= (p.Ala1758=)
11g.118503582G>TCA382806563KMT2Ac.7789G>T (p.Ala2597Ser)
c.7780G>T (p.Ala2594Ser)
c.1729G>T (p.Ala577Ser)
c.1987G>T (p.Ala663Ser)
c.7762G>T (p.Ala2588Ser)
c.7681G>T (p.Ala2561Ser)
n.7032G>T
c.7690G>T (p.Ala2564Ser)
c.7567G>T (p.Ala2523Ser)
c.5173G>T (p.Ala1725Ser)
c.7786G>T (p.Ala2596Ser)
c.5596G>T (p.Ala1866Ser)
c.5272G>T (p.Ala1758Ser)
11g.118503583C>ACA382806579KMT2Ac.7790C>A (p.Ala2597Asp)
c.7781C>A (p.Ala2594Asp)
c.1730C>A (p.Ala577Asp)
c.1988C>A (p.Ala663Asp)
c.7763C>A (p.Ala2588Asp)
c.7682C>A (p.Ala2561Asp)
n.7033C>A
c.7691C>A (p.Ala2564Asp)
c.7568C>A (p.Ala2523Asp)
c.5174C>A (p.Ala1725Asp)
c.7787C>A (p.Ala2596Asp)
c.5597C>A (p.Ala1866Asp)
c.5273C>A (p.Ala1758Asp)
11g.118503583C>GCA382806573KMT2Ac.7790C>G (p.Ala2597Gly)
c.7781C>G (p.Ala2594Gly)
c.1730C>G (p.Ala577Gly)
c.1988C>G (p.Ala663Gly)
c.7763C>G (p.Ala2588Gly)
c.7682C>G (p.Ala2561Gly)
n.7033C>G
c.7691C>G (p.Ala2564Gly)
c.7568C>G (p.Ala2523Gly)
c.5174C>G (p.Ala1725Gly)
c.7787C>G (p.Ala2596Gly)
c.5597C>G (p.Ala1866Gly)
c.5273C>G (p.Ala1758Gly)
11g.118503583C>TCA382806576KMT2Ac.7790C>T (p.Ala2597Val)
c.7781C>T (p.Ala2594Val)
c.1730C>T (p.Ala577Val)
c.1988C>T (p.Ala663Val)
c.7763C>T (p.Ala2588Val)
c.7682C>T (p.Ala2561Val)
n.7033C>T
c.7691C>T (p.Ala2564Val)
c.7568C>T (p.Ala2523Val)
c.5174C>T (p.Ala1725Val)
c.7787C>T (p.Ala2596Val)
c.5597C>T (p.Ala1866Val)
c.5273C>T (p.Ala1758Val)
 dbSNP
11g.118503584C>ACA477359990KMT2Ac.7791C>A (p.Ala2597=)
c.7782C>A (p.Ala2594=)
c.1731C>A (p.Ala577=)
c.1989C>A (p.Ala663=)
c.7764C>A (p.Ala2588=)
c.7683C>A (p.Ala2561=)
n.7034C>A
c.7692C>A (p.Ala2564=)
c.7569C>A (p.Ala2523=)
c.5175C>A (p.Ala1725=)
c.7788C>A (p.Ala2596=)
c.5598C>A (p.Ala1866=)
c.5274C>A (p.Ala1758=)
11g.118503584C=CA2003528035KMT2Ac.7791C= (p.Ala2597=)
c.7782C= (p.Ala2594=)
c.1731C= (p.Ala577=)
c.1989C= (p.Ala663=)
c.7764C= (p.Ala2588=)
c.7683C= (p.Ala2561=)
n.7034C=
c.7692C= (p.Ala2564=)
c.7569C= (p.Ala2523=)
c.5175C= (p.Ala1725=)
c.7788C= (p.Ala2596=)
c.5598C= (p.Ala1866=)
c.5274C= (p.Ala1758=)
11g.118503584C>GCA477359991KMT2Ac.7791C>G (p.Ala2597=)
c.7782C>G (p.Ala2594=)
c.1731C>G (p.Ala577=)
c.1989C>G (p.Ala663=)
c.7764C>G (p.Ala2588=)
c.7683C>G (p.Ala2561=)
n.7034C>G
c.7692C>G (p.Ala2564=)
c.7569C>G (p.Ala2523=)
c.5175C>G (p.Ala1725=)
c.7788C>G (p.Ala2596=)
c.5598C>G (p.Ala1866=)
c.5274C>G (p.Ala1758=)
11g.118503584C>TCA477359992KMT2Ac.7791C>T (p.Ala2597=)
c.7782C>T (p.Ala2594=)
c.1731C>T (p.Ala577=)
c.1989C>T (p.Ala663=)
c.7764C>T (p.Ala2588=)
c.7683C>T (p.Ala2561=)
n.7034C>T
c.7692C>T (p.Ala2564=)
c.7569C>T (p.Ala2523=)
c.5175C>T (p.Ala1725=)
c.7788C>T (p.Ala2596=)
c.5598C>T (p.Ala1866=)
c.5274C>T (p.Ala1758=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503585T>ACA382806582KMT2Ac.7792T>A (p.Ser2598Thr)
c.7783T>A (p.Ser2595Thr)
c.1732T>A (p.Ser578Thr)
c.1990T>A (p.Ser664Thr)
c.7765T>A (p.Ser2589Thr)
c.7684T>A (p.Ser2562Thr)
n.7035T>A
c.7693T>A (p.Ser2565Thr)
c.7570T>A (p.Ser2524Thr)
c.5176T>A (p.Ser1726Thr)
c.7789T>A (p.Ser2597Thr)
c.5599T>A (p.Ser1867Thr)
c.5275T>A (p.Ser1759Thr)
11g.118503585T>CCA382806584KMT2Ac.7792T>C (p.Ser2598Pro)
c.7783T>C (p.Ser2595Pro)
c.1732T>C (p.Ser578Pro)
c.1990T>C (p.Ser664Pro)
c.7765T>C (p.Ser2589Pro)
c.7684T>C (p.Ser2562Pro)
n.7035T>C
c.7693T>C (p.Ser2565Pro)
c.7570T>C (p.Ser2524Pro)
c.5176T>C (p.Ser1726Pro)
c.7789T>C (p.Ser2597Pro)
c.5599T>C (p.Ser1867Pro)
c.5275T>C (p.Ser1759Pro)
11g.118503585T>GCA382806587KMT2Ac.7792T>G (p.Ser2598Ala)
c.7783T>G (p.Ser2595Ala)
c.1732T>G (p.Ser578Ala)
c.1990T>G (p.Ser664Ala)
c.7765T>G (p.Ser2589Ala)
c.7684T>G (p.Ser2562Ala)
n.7035T>G
c.7693T>G (p.Ser2565Ala)
c.7570T>G (p.Ser2524Ala)
c.5176T>G (p.Ser1726Ala)
c.7789T>G (p.Ser2597Ala)
c.5599T>G (p.Ser1867Ala)
c.5275T>G (p.Ser1759Ala)
11g.118503586C>ACA382806591KMT2Ac.7793C>A (p.Ser2598Tyr)
c.7784C>A (p.Ser2595Tyr)
c.1733C>A (p.Ser578Tyr)
c.1991C>A (p.Ser664Tyr)
c.7766C>A (p.Ser2589Tyr)
c.7685C>A (p.Ser2562Tyr)
n.7036C>A
c.7694C>A (p.Ser2565Tyr)
c.7571C>A (p.Ser2524Tyr)
c.5177C>A (p.Ser1726Tyr)
c.7790C>A (p.Ser2597Tyr)
c.5600C>A (p.Ser1867Tyr)
c.5276C>A (p.Ser1759Tyr)
11g.118503586C>GCA382806593KMT2Ac.7793C>G (p.Ser2598Cys)
c.7784C>G (p.Ser2595Cys)
c.1733C>G (p.Ser578Cys)
c.1991C>G (p.Ser664Cys)
c.7766C>G (p.Ser2589Cys)
c.7685C>G (p.Ser2562Cys)
n.7036C>G
c.7694C>G (p.Ser2565Cys)
c.7571C>G (p.Ser2524Cys)
c.5177C>G (p.Ser1726Cys)
c.7790C>G (p.Ser2597Cys)
c.5600C>G (p.Ser1867Cys)
c.5276C>G (p.Ser1759Cys)
11g.118503586C>TCA382806595KMT2Ac.7793C>T (p.Ser2598Phe)
c.7784C>T (p.Ser2595Phe)
c.1733C>T (p.Ser578Phe)
c.1991C>T (p.Ser664Phe)
c.7766C>T (p.Ser2589Phe)
c.7685C>T (p.Ser2562Phe)
n.7036C>T
c.7694C>T (p.Ser2565Phe)
c.7571C>T (p.Ser2524Phe)
c.5177C>T (p.Ser1726Phe)
c.7790C>T (p.Ser2597Phe)
c.5600C>T (p.Ser1867Phe)
c.5276C>T (p.Ser1759Phe)
11g.118503587T>ACA477360002KMT2Ac.7794T>A (p.Ser2598=)
c.7785T>A (p.Ser2595=)
c.1734T>A (p.Ser578=)
c.1992T>A (p.Ser664=)
c.7767T>A (p.Ser2589=)
c.7686T>A (p.Ser2562=)
n.7037T>A
c.7695T>A (p.Ser2565=)
c.7572T>A (p.Ser2524=)
c.5178T>A (p.Ser1726=)
c.7791T>A (p.Ser2597=)
c.5601T>A (p.Ser1867=)
c.5277T>A (p.Ser1759=)
11g.118503587T>CCA477360003KMT2Ac.7794T>C (p.Ser2598=)
c.7785T>C (p.Ser2595=)
c.1734T>C (p.Ser578=)
c.1992T>C (p.Ser664=)
c.7767T>C (p.Ser2589=)
c.7686T>C (p.Ser2562=)
n.7037T>C
c.7695T>C (p.Ser2565=)
c.7572T>C (p.Ser2524=)
c.5178T>C (p.Ser1726=)
c.7791T>C (p.Ser2597=)
c.5601T>C (p.Ser1867=)
c.5277T>C (p.Ser1759=)
11g.118503587T>GCA477360001KMT2Ac.7794T>G (p.Ser2598=)
c.7785T>G (p.Ser2595=)
c.1734T>G (p.Ser578=)
c.1992T>G (p.Ser664=)
c.7767T>G (p.Ser2589=)
c.7686T>G (p.Ser2562=)
n.7037T>G
c.7695T>G (p.Ser2565=)
c.7572T>G (p.Ser2524=)
c.5178T>G (p.Ser1726=)
c.7791T>G (p.Ser2597=)
c.5601T>G (p.Ser1867=)
c.5277T>G (p.Ser1759=)
11g.118503587_118503588delCA658793520KMT2Ac.7794_7795del (p.Glu2599LysfsTer14)
c.7785_7786del (p.Glu2596LysfsTer14)
c.1734_1735del (p.Glu579LysfsTer14)
c.1992_1993del (p.Glu665LysfsTer14)
c.7767_7768del (p.Glu2590LysfsTer14)
c.7686_7687del (p.Glu2563LysfsTer14)
n.7037_7038del
c.7695_7696del (p.Glu2566LysfsTer14)
c.7572_7573del (p.Glu2525LysfsTer14)
c.5178_5179del (p.Glu1727LysfsTer14)
c.7791_7792del (p.Glu2598LysfsTer14)
c.5601_5602del (p.Glu1868LysfsTer14)
c.5277_5278del (p.Glu1760LysfsTer14)
11g.118503588G>ACA6304427KMT2Ac.7795G>A (p.Glu2599Lys)
c.7786G>A (p.Glu2596Lys)
c.1735G>A (p.Glu579Lys)
c.1993G>A (p.Glu665Lys)
c.7768G>A (p.Glu2590Lys)
c.7687G>A (p.Glu2563Lys)
n.7038G>A
c.7696G>A (p.Glu2566Lys)
c.7573G>A (p.Glu2525Lys)
c.5179G>A (p.Glu1727Lys)
c.7792G>A (p.Glu2598Lys)
c.5602G>A (p.Glu1868Lys)
c.5278G>A (p.Glu1760Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503588G>CCA382806598KMT2Ac.7795G>C (p.Glu2599Gln)
c.7786G>C (p.Glu2596Gln)
c.1735G>C (p.Glu579Gln)
c.1993G>C (p.Glu665Gln)
c.7768G>C (p.Glu2590Gln)
c.7687G>C (p.Glu2563Gln)
n.7038G>C
c.7696G>C (p.Glu2566Gln)
c.7573G>C (p.Glu2525Gln)
c.5179G>C (p.Glu1727Gln)
c.7792G>C (p.Glu2598Gln)
c.5602G>C (p.Glu1868Gln)
c.5278G>C (p.Glu1760Gln)
11g.118503588G=CA2003528037KMT2Ac.7795G= (p.Glu2599=)
c.7786G= (p.Glu2596=)
c.1735G= (p.Glu579=)
c.1993G= (p.Glu665=)
c.7768G= (p.Glu2590=)
c.7687G= (p.Glu2563=)
n.7038G=
c.7696G= (p.Glu2566=)
c.7573G= (p.Glu2525=)
c.5179G= (p.Glu1727=)
c.7792G= (p.Glu2598=)
c.5602G= (p.Glu1868=)
c.5278G= (p.Glu1760=)
11g.118503588G>TCA382806601KMT2Ac.7795G>T (p.Glu2599Ter)
c.7786G>T (p.Glu2596Ter)
c.1735G>T (p.Glu579Ter)
c.1993G>T (p.Glu665Ter)
c.7768G>T (p.Glu2590Ter)
c.7687G>T (p.Glu2563Ter)
n.7038G>T
c.7696G>T (p.Glu2566Ter)
c.7573G>T (p.Glu2525Ter)
c.5179G>T (p.Glu1727Ter)
c.7792G>T (p.Glu2598Ter)
c.5602G>T (p.Glu1868Ter)
c.5278G>T (p.Glu1760Ter)
11g.118503589A>CCA382806608KMT2Ac.7796A>C (p.Glu2599Ala)
c.7787A>C (p.Glu2596Ala)
c.1736A>C (p.Glu579Ala)
c.1994A>C (p.Glu665Ala)
c.7769A>C (p.Glu2590Ala)
c.7688A>C (p.Glu2563Ala)
n.7039A>C
c.7697A>C (p.Glu2566Ala)
c.7574A>C (p.Glu2525Ala)
c.5180A>C (p.Glu1727Ala)
c.7793A>C (p.Glu2598Ala)
c.5603A>C (p.Glu1868Ala)
c.5279A>C (p.Glu1760Ala)
11g.118503589A>GCA382806607KMT2Ac.7796A>G (p.Glu2599Gly)
c.7787A>G (p.Glu2596Gly)
c.1736A>G (p.Glu579Gly)
c.1994A>G (p.Glu665Gly)
c.7769A>G (p.Glu2590Gly)
c.7688A>G (p.Glu2563Gly)
n.7039A>G
c.7697A>G (p.Glu2566Gly)
c.7574A>G (p.Glu2525Gly)
c.5180A>G (p.Glu1727Gly)
c.7793A>G (p.Glu2598Gly)
c.5603A>G (p.Glu1868Gly)
c.5279A>G (p.Glu1760Gly)
11g.118503589A>TCA382806605KMT2Ac.7796A>T (p.Glu2599Val)
c.7787A>T (p.Glu2596Val)
c.1736A>T (p.Glu579Val)
c.1994A>T (p.Glu665Val)
c.7769A>T (p.Glu2590Val)
c.7688A>T (p.Glu2563Val)
n.7039A>T
c.7697A>T (p.Glu2566Val)
c.7574A>T (p.Glu2525Val)
c.5180A>T (p.Glu1727Val)
c.7793A>T (p.Glu2598Val)
c.5603A>T (p.Glu1868Val)
c.5279A>T (p.Glu1760Val)
11g.118503590A>CCA382806609KMT2Ac.7797A>C (p.Glu2599Asp)
c.7788A>C (p.Glu2596Asp)
c.1737A>C (p.Glu579Asp)
c.1995A>C (p.Glu665Asp)
c.7770A>C (p.Glu2590Asp)
c.7689A>C (p.Glu2563Asp)
n.7040A>C
c.7698A>C (p.Glu2566Asp)
c.7575A>C (p.Glu2525Asp)
c.5181A>C (p.Glu1727Asp)
c.7794A>C (p.Glu2598Asp)
c.5604A>C (p.Glu1868Asp)
c.5280A>C (p.Glu1760Asp)
11g.118503590A>GCA477360011KMT2Ac.7797A>G (p.Glu2599=)
c.7788A>G (p.Glu2596=)
c.1737A>G (p.Glu579=)
c.1995A>G (p.Glu665=)
c.7770A>G (p.Glu2590=)
c.7689A>G (p.Glu2563=)
n.7040A>G
c.7698A>G (p.Glu2566=)
c.7575A>G (p.Glu2525=)
c.5181A>G (p.Glu1727=)
c.7794A>G (p.Glu2598=)
c.5604A>G (p.Glu1868=)
c.5280A>G (p.Glu1760=)
11g.118503590A>TCA382806610KMT2Ac.7797A>T (p.Glu2599Asp)
c.7788A>T (p.Glu2596Asp)
c.1737A>T (p.Glu579Asp)
c.1995A>T (p.Glu665Asp)
c.7770A>T (p.Glu2590Asp)
c.7689A>T (p.Glu2563Asp)
n.7040A>T
c.7698A>T (p.Glu2566Asp)
c.7575A>T (p.Glu2525Asp)
c.5181A>T (p.Glu1727Asp)
c.7794A>T (p.Glu2598Asp)
c.5604A>T (p.Glu1868Asp)
c.5280A>T (p.Glu1760Asp)
11g.118503591A>CCA382806612KMT2Ac.7798A>C (p.Asn2600His)
c.7789A>C (p.Asn2597His)
c.1738A>C (p.Asn580His)
c.1996A>C (p.Asn666His)
c.7771A>C (p.Asn2591His)
c.7690A>C (p.Asn2564His)
n.7041A>C
c.7699A>C (p.Asn2567His)
c.7576A>C (p.Asn2526His)
c.5182A>C (p.Asn1728His)
c.7795A>C (p.Asn2599His)
c.5605A>C (p.Asn1869His)
c.5281A>C (p.Asn1761His)
11g.118503591A>GCA382806613KMT2Ac.7798A>G (p.Asn2600Asp)
c.7789A>G (p.Asn2597Asp)
c.1738A>G (p.Asn580Asp)
c.1996A>G (p.Asn666Asp)
c.7771A>G (p.Asn2591Asp)
c.7690A>G (p.Asn2564Asp)
n.7041A>G
c.7699A>G (p.Asn2567Asp)
c.7576A>G (p.Asn2526Asp)
c.5182A>G (p.Asn1728Asp)
c.7795A>G (p.Asn2599Asp)
c.5605A>G (p.Asn1869Asp)
c.5281A>G (p.Asn1761Asp)
 ClinVar
11g.118503591A>TCA382806616KMT2Ac.7798A>T (p.Asn2600Tyr)
c.7789A>T (p.Asn2597Tyr)
c.1738A>T (p.Asn580Tyr)
c.1996A>T (p.Asn666Tyr)
c.7771A>T (p.Asn2591Tyr)
c.7690A>T (p.Asn2564Tyr)
n.7041A>T
c.7699A>T (p.Asn2567Tyr)
c.7576A>T (p.Asn2526Tyr)
c.5182A>T (p.Asn1728Tyr)
c.7795A>T (p.Asn2599Tyr)
c.5605A>T (p.Asn1869Tyr)
c.5281A>T (p.Asn1761Tyr)
11g.118503592A>CCA382806617KMT2Ac.7799A>C (p.Asn2600Thr)
c.7790A>C (p.Asn2597Thr)
c.1739A>C (p.Asn580Thr)
c.1997A>C (p.Asn666Thr)
c.7772A>C (p.Asn2591Thr)
c.7691A>C (p.Asn2564Thr)
n.7042A>C
c.7700A>C (p.Asn2567Thr)
c.7577A>C (p.Asn2526Thr)
c.5183A>C (p.Asn1728Thr)
c.7796A>C (p.Asn2599Thr)
c.5606A>C (p.Asn1869Thr)
c.5282A>C (p.Asn1761Thr)
11g.118503592A>GCA382806619KMT2Ac.7799A>G (p.Asn2600Ser)
c.7790A>G (p.Asn2597Ser)
c.1739A>G (p.Asn580Ser)
c.1997A>G (p.Asn666Ser)
c.7772A>G (p.Asn2591Ser)
c.7691A>G (p.Asn2564Ser)
n.7042A>G
c.7700A>G (p.Asn2567Ser)
c.7577A>G (p.Asn2526Ser)
c.5183A>G (p.Asn1728Ser)
c.7796A>G (p.Asn2599Ser)
c.5606A>G (p.Asn1869Ser)
c.5282A>G (p.Asn1761Ser)
 gnomAD v4
11g.118503592A>TCA382806622KMT2Ac.7799A>T (p.Asn2600Ile)
c.7790A>T (p.Asn2597Ile)
c.1739A>T (p.Asn580Ile)
c.1997A>T (p.Asn666Ile)
c.7772A>T (p.Asn2591Ile)
c.7691A>T (p.Asn2564Ile)
n.7042A>T
c.7700A>T (p.Asn2567Ile)
c.7577A>T (p.Asn2526Ile)
c.5183A>T (p.Asn1728Ile)
c.7796A>T (p.Asn2599Ile)
c.5606A>T (p.Asn1869Ile)
c.5282A>T (p.Asn1761Ile)
11g.118503593T>ACA382806624KMT2Ac.7800T>A (p.Asn2600Lys)
c.7791T>A (p.Asn2597Lys)
c.1740T>A (p.Asn580Lys)
c.1998T>A (p.Asn666Lys)
c.7773T>A (p.Asn2591Lys)
c.7692T>A (p.Asn2564Lys)
n.7043T>A
c.7701T>A (p.Asn2567Lys)
c.7578T>A (p.Asn2526Lys)
c.5184T>A (p.Asn1728Lys)
c.7797T>A (p.Asn2599Lys)
c.5607T>A (p.Asn1869Lys)
c.5283T>A (p.Asn1761Lys)
 dbSNP
11g.118503593T>CCA477360021KMT2Ac.7800T>C (p.Asn2600=)
c.7791T>C (p.Asn2597=)
c.1740T>C (p.Asn580=)
c.1998T>C (p.Asn666=)
c.7773T>C (p.Asn2591=)
c.7692T>C (p.Asn2564=)
n.7043T>C
c.7701T>C (p.Asn2567=)
c.7578T>C (p.Asn2526=)
c.5184T>C (p.Asn1728=)
c.7797T>C (p.Asn2599=)
c.5607T>C (p.Asn1869=)
c.5283T>C (p.Asn1761=)
11g.118503593T>GCA382806626KMT2Ac.7800T>G (p.Asn2600Lys)
c.7791T>G (p.Asn2597Lys)
c.1740T>G (p.Asn580Lys)
c.1998T>G (p.Asn666Lys)
c.7773T>G (p.Asn2591Lys)
c.7692T>G (p.Asn2564Lys)
n.7043T>G
c.7701T>G (p.Asn2567Lys)
c.7578T>G (p.Asn2526Lys)
c.5184T>G (p.Asn1728Lys)
c.7797T>G (p.Asn2599Lys)
c.5607T>G (p.Asn1869Lys)
c.5283T>G (p.Asn1761Lys)
11g.118503594C>ACA382806631KMT2Ac.7801C>A (p.Pro2601Thr)
c.7792C>A (p.Pro2598Thr)
c.1741C>A (p.Pro581Thr)
c.1999C>A (p.Pro667Thr)
c.7774C>A (p.Pro2592Thr)
c.7693C>A (p.Pro2565Thr)
n.7044C>A
c.7702C>A (p.Pro2568Thr)
c.7579C>A (p.Pro2527Thr)
c.5185C>A (p.Pro1729Thr)
c.7798C>A (p.Pro2600Thr)
c.5608C>A (p.Pro1870Thr)
c.5284C>A (p.Pro1762Thr)
11g.118503594C=CA2003528039KMT2Ac.7801C= (p.Pro2601=)
c.7792C= (p.Pro2598=)
c.1741C= (p.Pro581=)
c.1999C= (p.Pro667=)
c.7774C= (p.Pro2592=)
c.7693C= (p.Pro2565=)
n.7044C=
c.7702C= (p.Pro2568=)
c.7579C= (p.Pro2527=)
c.5185C= (p.Pro1729=)
c.7798C= (p.Pro2600=)
c.5608C= (p.Pro1870=)
c.5284C= (p.Pro1762=)
11g.118503594C>GCA382806633KMT2Ac.7801C>G (p.Pro2601Ala)
c.7792C>G (p.Pro2598Ala)
c.1741C>G (p.Pro581Ala)
c.1999C>G (p.Pro667Ala)
c.7774C>G (p.Pro2592Ala)
c.7693C>G (p.Pro2565Ala)
n.7044C>G
c.7702C>G (p.Pro2568Ala)
c.7579C>G (p.Pro2527Ala)
c.5185C>G (p.Pro1729Ala)
c.7798C>G (p.Pro2600Ala)
c.5608C>G (p.Pro1870Ala)
c.5284C>G (p.Pro1762Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.118503594C>TCA382806635KMT2Ac.7801C>T (p.Pro2601Ser)
c.7792C>T (p.Pro2598Ser)
c.1741C>T (p.Pro581Ser)
c.1999C>T (p.Pro667Ser)
c.7774C>T (p.Pro2592Ser)
c.7693C>T (p.Pro2565Ser)
n.7044C>T
c.7702C>T (p.Pro2568Ser)
c.7579C>T (p.Pro2527Ser)
c.5185C>T (p.Pro1729Ser)
c.7798C>T (p.Pro2600Ser)
c.5608C>T (p.Pro1870Ser)
c.5284C>T (p.Pro1762Ser)
11g.118503595C>ACA382806641KMT2Ac.7802C>A (p.Pro2601Gln)
c.7793C>A (p.Pro2598Gln)
c.1742C>A (p.Pro581Gln)
c.2000C>A (p.Pro667Gln)
c.7775C>A (p.Pro2592Gln)
c.7694C>A (p.Pro2565Gln)
n.7045C>A
c.7703C>A (p.Pro2568Gln)
c.7580C>A (p.Pro2527Gln)
c.5186C>A (p.Pro1729Gln)
c.7799C>A (p.Pro2600Gln)
c.5609C>A (p.Pro1870Gln)
c.5285C>A (p.Pro1762Gln)
 dbSNP
11g.118503595C>GCA382806639KMT2Ac.7802C>G (p.Pro2601Arg)
c.7793C>G (p.Pro2598Arg)
c.1742C>G (p.Pro581Arg)
c.2000C>G (p.Pro667Arg)
c.7775C>G (p.Pro2592Arg)
c.7694C>G (p.Pro2565Arg)
n.7045C>G
c.7703C>G (p.Pro2568Arg)
c.7580C>G (p.Pro2527Arg)
c.5186C>G (p.Pro1729Arg)
c.7799C>G (p.Pro2600Arg)
c.5609C>G (p.Pro1870Arg)
c.5285C>G (p.Pro1762Arg)
 gnomAD v4
11g.118503595C>TCA382806636KMT2Ac.7802C>T (p.Pro2601Leu)
c.7793C>T (p.Pro2598Leu)
c.1742C>T (p.Pro581Leu)
c.2000C>T (p.Pro667Leu)
c.7775C>T (p.Pro2592Leu)
c.7694C>T (p.Pro2565Leu)
n.7045C>T
c.7703C>T (p.Pro2568Leu)
c.7580C>T (p.Pro2527Leu)
c.5186C>T (p.Pro1729Leu)
c.7799C>T (p.Pro2600Leu)
c.5609C>T (p.Pro1870Leu)
c.5285C>T (p.Pro1762Leu)
11g.118503596A=CA2003528042KMT2Ac.7803A= (p.Pro2601=)
c.7794A= (p.Pro2598=)
c.1743A= (p.Pro581=)
c.2001A= (p.Pro667=)
c.7776A= (p.Pro2592=)
c.7695A= (p.Pro2565=)
n.7046A=
c.7704A= (p.Pro2568=)
c.7581A= (p.Pro2527=)
c.5187A= (p.Pro1729=)
c.7800A= (p.Pro2600=)
c.5610A= (p.Pro1870=)
c.5286A= (p.Pro1762=)
11g.118503596A>CCA477360029KMT2Ac.7803A>C (p.Pro2601=)
c.7794A>C (p.Pro2598=)
c.1743A>C (p.Pro581=)
c.2001A>C (p.Pro667=)
c.7776A>C (p.Pro2592=)
c.7695A>C (p.Pro2565=)
n.7046A>C
c.7704A>C (p.Pro2568=)
c.7581A>C (p.Pro2527=)
c.5187A>C (p.Pro1729=)
c.7800A>C (p.Pro2600=)
c.5610A>C (p.Pro1870=)
c.5286A>C (p.Pro1762=)
11g.118503596A>GCA477360030KMT2Ac.7803A>G (p.Pro2601=)
c.7794A>G (p.Pro2598=)
c.1743A>G (p.Pro581=)
c.2001A>G (p.Pro667=)
c.7776A>G (p.Pro2592=)
c.7695A>G (p.Pro2565=)
n.7046A>G
c.7704A>G (p.Pro2568=)
c.7581A>G (p.Pro2527=)
c.5187A>G (p.Pro1729=)
c.7800A>G (p.Pro2600=)
c.5610A>G (p.Pro1870=)
c.5286A>G (p.Pro1762=)
 dbSNP
11g.118503596A>TCA6304428KMT2Ac.7803A>T (p.Pro2601=)
c.7794A>T (p.Pro2598=)
c.1743A>T (p.Pro581=)
c.2001A>T (p.Pro667=)
c.7776A>T (p.Pro2592=)
c.7695A>T (p.Pro2565=)
n.7046A>T
c.7704A>T (p.Pro2568=)
c.7581A>T (p.Pro2527=)
c.5187A>T (p.Pro1729=)
c.7800A>T (p.Pro2600=)
c.5610A>T (p.Pro1870=)
c.5286A>T (p.Pro1762=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503597G>ACA382806646KMT2Ac.7804G>A (p.Gly2602Arg)
c.7795G>A (p.Gly2599Arg)
c.1744G>A (p.Gly582Arg)
c.2002G>A (p.Gly668Arg)
c.7777G>A (p.Gly2593Arg)
c.7696G>A (p.Gly2566Arg)
n.7047G>A
c.7705G>A (p.Gly2569Arg)
c.7582G>A (p.Gly2528Arg)
c.5188G>A (p.Gly1730Arg)
c.7801G>A (p.Gly2601Arg)
c.5611G>A (p.Gly1871Arg)
c.5287G>A (p.Gly1763Arg)
11g.118503597G>CCA6304429KMT2Ac.7804G>C (p.Gly2602Arg)
c.7795G>C (p.Gly2599Arg)
c.1744G>C (p.Gly582Arg)
c.2002G>C (p.Gly668Arg)
c.7777G>C (p.Gly2593Arg)
c.7696G>C (p.Gly2566Arg)
n.7047G>C
c.7705G>C (p.Gly2569Arg)
c.7582G>C (p.Gly2528Arg)
c.5188G>C (p.Gly1730Arg)
c.7801G>C (p.Gly2601Arg)
c.5611G>C (p.Gly1871Arg)
c.5287G>C (p.Gly1763Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503597G=CA2003528045KMT2Ac.7804G= (p.Gly2602=)
c.7795G= (p.Gly2599=)
c.1744G= (p.Gly582=)
c.2002G= (p.Gly668=)
c.7777G= (p.Gly2593=)
c.7696G= (p.Gly2566=)
n.7047G=
c.7705G= (p.Gly2569=)
c.7582G= (p.Gly2528=)
c.5188G= (p.Gly1730=)
c.7801G= (p.Gly2601=)
c.5611G= (p.Gly1871=)
c.5287G= (p.Gly1763=)
11g.118503597G>TCA382806652KMT2Ac.7804G>T (p.Gly2602Ter)
c.7795G>T (p.Gly2599Ter)
c.1744G>T (p.Gly582Ter)
c.2002G>T (p.Gly668Ter)
c.7777G>T (p.Gly2593Ter)
c.7696G>T (p.Gly2566Ter)
n.7047G>T
c.7705G>T (p.Gly2569Ter)
c.7582G>T (p.Gly2528Ter)
c.5188G>T (p.Gly1730Ter)
c.7801G>T (p.Gly2601Ter)
c.5611G>T (p.Gly1871Ter)
c.5287G>T (p.Gly1763Ter)
11g.118503598G>ACA382806654KMT2Ac.7805G>A (p.Gly2602Glu)
c.7796G>A (p.Gly2599Glu)
c.1745G>A (p.Gly582Glu)
c.2003G>A (p.Gly668Glu)
c.7778G>A (p.Gly2593Glu)
c.7697G>A (p.Gly2566Glu)
n.7048G>A
c.7706G>A (p.Gly2569Glu)
c.7583G>A (p.Gly2528Glu)
c.5189G>A (p.Gly1730Glu)
c.7802G>A (p.Gly2601Glu)
c.5612G>A (p.Gly1871Glu)
c.5288G>A (p.Gly1763Glu)
11g.118503598G>CCA382806656KMT2Ac.7805G>C (p.Gly2602Ala)
c.7796G>C (p.Gly2599Ala)
c.1745G>C (p.Gly582Ala)
c.2003G>C (p.Gly668Ala)
c.7778G>C (p.Gly2593Ala)
c.7697G>C (p.Gly2566Ala)
n.7048G>C
c.7706G>C (p.Gly2569Ala)
c.7583G>C (p.Gly2528Ala)
c.5189G>C (p.Gly1730Ala)
c.7802G>C (p.Gly2601Ala)
c.5612G>C (p.Gly1871Ala)
c.5288G>C (p.Gly1763Ala)
 ClinVar dbSNP gnomAD v4
11g.118503598G=CA2003528055KMT2Ac.7805G= (p.Gly2602=)
c.7796G= (p.Gly2599=)
c.1745G= (p.Gly582=)
c.2003G= (p.Gly668=)
c.7778G= (p.Gly2593=)
c.7697G= (p.Gly2566=)
n.7048G=
c.7706G= (p.Gly2569=)
c.7583G= (p.Gly2528=)
c.5189G= (p.Gly1730=)
c.7802G= (p.Gly2601=)
c.5612G= (p.Gly1871=)
c.5288G= (p.Gly1763=)
11g.118503598G>TCA382806658KMT2Ac.7805G>T (p.Gly2602Val)
c.7796G>T (p.Gly2599Val)
c.1745G>T (p.Gly582Val)
c.2003G>T (p.Gly668Val)
c.7778G>T (p.Gly2593Val)
c.7697G>T (p.Gly2566Val)
n.7048G>T
c.7706G>T (p.Gly2569Val)
c.7583G>T (p.Gly2528Val)
c.5189G>T (p.Gly1730Val)
c.7802G>T (p.Gly2601Val)
c.5612G>T (p.Gly1871Val)
c.5288G>T (p.Gly1763Val)
11g.118503599A>CCA477360035KMT2Ac.7806A>C (p.Gly2602=)
c.7797A>C (p.Gly2599=)
c.1746A>C (p.Gly582=)
c.2004A>C (p.Gly668=)
c.7779A>C (p.Gly2593=)
c.7698A>C (p.Gly2566=)
n.7049A>C
c.7707A>C (p.Gly2569=)
c.7584A>C (p.Gly2528=)
c.5190A>C (p.Gly1730=)
c.7803A>C (p.Gly2601=)
c.5613A>C (p.Gly1871=)
c.5289A>C (p.Gly1763=)
11g.118503599A>GCA477360037KMT2Ac.7806A>G (p.Gly2602=)
c.7797A>G (p.Gly2599=)
c.1746A>G (p.Gly582=)
c.2004A>G (p.Gly668=)
c.7779A>G (p.Gly2593=)
c.7698A>G (p.Gly2566=)
n.7049A>G
c.7707A>G (p.Gly2569=)
c.7584A>G (p.Gly2528=)
c.5190A>G (p.Gly1730=)
c.7803A>G (p.Gly2601=)
c.5613A>G (p.Gly1871=)
c.5289A>G (p.Gly1763=)
11g.118503599A>TCA477360040KMT2Ac.7806A>T (p.Gly2602=)
c.7797A>T (p.Gly2599=)
c.1746A>T (p.Gly582=)
c.2004A>T (p.Gly668=)
c.7779A>T (p.Gly2593=)
c.7698A>T (p.Gly2566=)
n.7049A>T
c.7707A>T (p.Gly2569=)
c.7584A>T (p.Gly2528=)
c.5190A>T (p.Gly1730=)
c.7803A>T (p.Gly2601=)
c.5613A>T (p.Gly1871=)
c.5289A>T (p.Gly1763=)
11g.118503600G>ACA382806664KMT2Ac.7807G>A (p.Asp2603Asn)
c.7798G>A (p.Asp2600Asn)
c.1747G>A (p.Asp583Asn)
c.2005G>A (p.Asp669Asn)
c.7780G>A (p.Asp2594Asn)
c.7699G>A (p.Asp2567Asn)
n.7050G>A
c.7708G>A (p.Asp2570Asn)
c.7585G>A (p.Asp2529Asn)
c.5191G>A (p.Asp1731Asn)
c.7804G>A (p.Asp2602Asn)
c.5614G>A (p.Asp1872Asn)
c.5290G>A (p.Asp1764Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.118503600G>CCA382806659KMT2Ac.7807G>C (p.Asp2603His)
c.7798G>C (p.Asp2600His)
c.1747G>C (p.Asp583His)
c.2005G>C (p.Asp669His)
c.7780G>C (p.Asp2594His)
c.7699G>C (p.Asp2567His)
n.7050G>C
c.7708G>C (p.Asp2570His)
c.7585G>C (p.Asp2529His)
c.5191G>C (p.Asp1731His)
c.7804G>C (p.Asp2602His)
c.5614G>C (p.Asp1872His)
c.5290G>C (p.Asp1764His)
11g.118503600G=CA2003528060KMT2Ac.7807G= (p.Asp2603=)
c.7798G= (p.Asp2600=)
c.1747G= (p.Asp583=)
c.2005G= (p.Asp669=)
c.7780G= (p.Asp2594=)
c.7699G= (p.Asp2567=)
n.7050G=
c.7708G= (p.Asp2570=)
c.7585G= (p.Asp2529=)
c.5191G= (p.Asp1731=)
c.7804G= (p.Asp2602=)
c.5614G= (p.Asp1872=)
c.5290G= (p.Asp1764=)
11g.118503600G>TCA382806662KMT2Ac.7807G>T (p.Asp2603Tyr)
c.7798G>T (p.Asp2600Tyr)
c.1747G>T (p.Asp583Tyr)
c.2005G>T (p.Asp669Tyr)
c.7780G>T (p.Asp2594Tyr)
c.7699G>T (p.Asp2567Tyr)
n.7050G>T
c.7708G>T (p.Asp2570Tyr)
c.7585G>T (p.Asp2529Tyr)
c.5191G>T (p.Asp1731Tyr)
c.7804G>T (p.Asp2602Tyr)
c.5614G>T (p.Asp1872Tyr)
c.5290G>T (p.Asp1764Tyr)
11g.118503601A>CCA382806667KMT2Ac.7808A>C (p.Asp2603Ala)
c.7799A>C (p.Asp2600Ala)
c.1748A>C (p.Asp583Ala)
c.2006A>C (p.Asp669Ala)
c.7781A>C (p.Asp2594Ala)
c.7700A>C (p.Asp2567Ala)
n.7051A>C
c.7709A>C (p.Asp2570Ala)
c.7586A>C (p.Asp2529Ala)
c.5192A>C (p.Asp1731Ala)
c.7805A>C (p.Asp2602Ala)
c.5615A>C (p.Asp1872Ala)
c.5291A>C (p.Asp1764Ala)
11g.118503601A>GCA382806669KMT2Ac.7808A>G (p.Asp2603Gly)
c.7799A>G (p.Asp2600Gly)
c.1748A>G (p.Asp583Gly)
c.2006A>G (p.Asp669Gly)
c.7781A>G (p.Asp2594Gly)
c.7700A>G (p.Asp2567Gly)
n.7051A>G
c.7709A>G (p.Asp2570Gly)
c.7586A>G (p.Asp2529Gly)
c.5192A>G (p.Asp1731Gly)
c.7805A>G (p.Asp2602Gly)
c.5615A>G (p.Asp1872Gly)
c.5291A>G (p.Asp1764Gly)
11g.118503601A>TCA382806672KMT2Ac.7808A>T (p.Asp2603Val)
c.7799A>T (p.Asp2600Val)
c.1748A>T (p.Asp583Val)
c.2006A>T (p.Asp669Val)
c.7781A>T (p.Asp2594Val)
c.7700A>T (p.Asp2567Val)
n.7051A>T
c.7709A>T (p.Asp2570Val)
c.7586A>T (p.Asp2529Val)
c.5192A>T (p.Asp1731Val)
c.7805A>T (p.Asp2602Val)
c.5615A>T (p.Asp1872Val)
c.5291A>T (p.Asp1764Val)
11g.118503602T>ACA382806673KMT2Ac.7809T>A (p.Asp2603Glu)
c.7800T>A (p.Asp2600Glu)
c.1749T>A (p.Asp583Glu)
c.2007T>A (p.Asp669Glu)
c.7782T>A (p.Asp2594Glu)
c.7701T>A (p.Asp2567Glu)
n.7052T>A
c.7710T>A (p.Asp2570Glu)
c.7587T>A (p.Asp2529Glu)
c.5193T>A (p.Asp1731Glu)
c.7806T>A (p.Asp2602Glu)
c.5616T>A (p.Asp1872Glu)
c.5292T>A (p.Asp1764Glu)
11g.118503602T>CCA477360043KMT2Ac.7809T>C (p.Asp2603=)
c.7800T>C (p.Asp2600=)
c.1749T>C (p.Asp583=)
c.2007T>C (p.Asp669=)
c.7782T>C (p.Asp2594=)
c.7701T>C (p.Asp2567=)
n.7052T>C
c.7710T>C (p.Asp2570=)
c.7587T>C (p.Asp2529=)
c.5193T>C (p.Asp1731=)
c.7806T>C (p.Asp2602=)
c.5616T>C (p.Asp1872=)
c.5292T>C (p.Asp1764=)
11g.118503602T>GCA382806674KMT2Ac.7809T>G (p.Asp2603Glu)
c.7800T>G (p.Asp2600Glu)
c.1749T>G (p.Asp583Glu)
c.2007T>G (p.Asp669Glu)
c.7782T>G (p.Asp2594Glu)
c.7701T>G (p.Asp2567Glu)
n.7052T>G
c.7710T>G (p.Asp2570Glu)
c.7587T>G (p.Asp2529Glu)
c.5193T>G (p.Asp1731Glu)
c.7806T>G (p.Asp2602Glu)
c.5616T>G (p.Asp1872Glu)
c.5292T>G (p.Asp1764Glu)
11g.118503603G>ACA382806675KMT2Ac.7810G>A (p.Gly2604Ser)
c.7801G>A (p.Gly2601Ser)
c.1750G>A (p.Gly584Ser)
c.2008G>A (p.Gly670Ser)
c.7783G>A (p.Gly2595Ser)
c.7702G>A (p.Gly2568Ser)
n.7053G>A
c.7711G>A (p.Gly2571Ser)
c.7588G>A (p.Gly2530Ser)
c.5194G>A (p.Gly1732Ser)
c.7807G>A (p.Gly2603Ser)
c.5617G>A (p.Gly1873Ser)
c.5293G>A (p.Gly1765Ser)
11g.118503603G>CCA382806678KMT2Ac.7810G>C (p.Gly2604Arg)
c.7801G>C (p.Gly2601Arg)
c.1750G>C (p.Gly584Arg)
c.2008G>C (p.Gly670Arg)
c.7783G>C (p.Gly2595Arg)
c.7702G>C (p.Gly2568Arg)
n.7053G>C
c.7711G>C (p.Gly2571Arg)
c.7588G>C (p.Gly2530Arg)
c.5194G>C (p.Gly1732Arg)
c.7807G>C (p.Gly2603Arg)
c.5617G>C (p.Gly1873Arg)
c.5293G>C (p.Gly1765Arg)
11g.118503603G=CA2003528063KMT2Ac.7810G= (p.Gly2604=)
c.7801G= (p.Gly2601=)
c.1750G= (p.Gly584=)
c.2008G= (p.Gly670=)
c.7783G= (p.Gly2595=)
c.7702G= (p.Gly2568=)
n.7053G=
c.7711G= (p.Gly2571=)
c.7588G= (p.Gly2530=)
c.5194G= (p.Gly1732=)
c.7807G= (p.Gly2603=)
c.5617G= (p.Gly1873=)
c.5293G= (p.Gly1765=)
11g.118503603G>TCA382806676KMT2Ac.7810G>T (p.Gly2604Cys)
c.7801G>T (p.Gly2601Cys)
c.1750G>T (p.Gly584Cys)
c.2008G>T (p.Gly670Cys)
c.7783G>T (p.Gly2595Cys)
c.7702G>T (p.Gly2568Cys)
n.7053G>T
c.7711G>T (p.Gly2571Cys)
c.7588G>T (p.Gly2530Cys)
c.5194G>T (p.Gly1732Cys)
c.7807G>T (p.Gly2603Cys)
c.5617G>T (p.Gly1873Cys)
c.5293G>T (p.Gly1765Cys)
 dbSNP
11g.118503604G>ACA382806680KMT2Ac.7811G>A (p.Gly2604Asp)
c.7802G>A (p.Gly2601Asp)
c.1751G>A (p.Gly584Asp)
c.2009G>A (p.Gly670Asp)
c.7784G>A (p.Gly2595Asp)
c.7703G>A (p.Gly2568Asp)
n.7054G>A
c.7712G>A (p.Gly2571Asp)
c.7589G>A (p.Gly2530Asp)
c.5195G>A (p.Gly1732Asp)
c.7808G>A (p.Gly2603Asp)
c.5618G>A (p.Gly1873Asp)
c.5294G>A (p.Gly1765Asp)
11g.118503604G>CCA382806682KMT2Ac.7811G>C (p.Gly2604Ala)
c.7802G>C (p.Gly2601Ala)
c.1751G>C (p.Gly584Ala)
c.2009G>C (p.Gly670Ala)
c.7784G>C (p.Gly2595Ala)
c.7703G>C (p.Gly2568Ala)
n.7054G>C
c.7712G>C (p.Gly2571Ala)
c.7589G>C (p.Gly2530Ala)
c.5195G>C (p.Gly1732Ala)
c.7808G>C (p.Gly2603Ala)
c.5618G>C (p.Gly1873Ala)
c.5294G>C (p.Gly1765Ala)
 dbSNP
11g.118503604G>TCA382806683KMT2Ac.7811G>T (p.Gly2604Val)
c.7802G>T (p.Gly2601Val)
c.1751G>T (p.Gly584Val)
c.2009G>T (p.Gly670Val)
c.7784G>T (p.Gly2595Val)
c.7703G>T (p.Gly2568Val)
n.7054G>T
c.7712G>T (p.Gly2571Val)
c.7589G>T (p.Gly2530Val)
c.5195G>T (p.Gly1732Val)
c.7808G>T (p.Gly2603Val)
c.5618G>T (p.Gly1873Val)
c.5294G>T (p.Gly1765Val)
11g.118503605T>ACA477360050KMT2Ac.7812T>A (p.Gly2604=)
c.7803T>A (p.Gly2601=)
c.1752T>A (p.Gly584=)
c.2010T>A (p.Gly670=)
c.7785T>A (p.Gly2595=)
c.7704T>A (p.Gly2568=)
n.7055T>A
c.7713T>A (p.Gly2571=)
c.7590T>A (p.Gly2530=)
c.5196T>A (p.Gly1732=)
c.7809T>A (p.Gly2603=)
c.5619T>A (p.Gly1873=)
c.5295T>A (p.Gly1765=)
11g.118503605T>CCA477360052KMT2Ac.7812T>C (p.Gly2604=)
c.7803T>C (p.Gly2601=)
c.1752T>C (p.Gly584=)
c.2010T>C (p.Gly670=)
c.7785T>C (p.Gly2595=)
c.7704T>C (p.Gly2568=)
n.7055T>C
c.7713T>C (p.Gly2571=)
c.7590T>C (p.Gly2530=)
c.5196T>C (p.Gly1732=)
c.7809T>C (p.Gly2603=)
c.5619T>C (p.Gly1873=)
c.5295T>C (p.Gly1765=)
11g.118503605T>GCA477360053KMT2Ac.7812T>G (p.Gly2604=)
c.7803T>G (p.Gly2601=)
c.1752T>G (p.Gly584=)
c.2010T>G (p.Gly670=)
c.7785T>G (p.Gly2595=)
c.7704T>G (p.Gly2568=)
n.7055T>G
c.7713T>G (p.Gly2571=)
c.7590T>G (p.Gly2530=)
c.5196T>G (p.Gly1732=)
c.7809T>G (p.Gly2603=)
c.5619T>G (p.Gly1873=)
c.5295T>G (p.Gly1765=)
11g.118503606C>ACA382806684KMT2Ac.7813C>A (p.Pro2605Thr)
c.7804C>A (p.Pro2602Thr)
c.1753C>A (p.Pro585Thr)
c.2011C>A (p.Pro671Thr)
c.7786C>A (p.Pro2596Thr)
c.7705C>A (p.Pro2569Thr)
n.7056C>A
c.7714C>A (p.Pro2572Thr)
c.7591C>A (p.Pro2531Thr)
c.5197C>A (p.Pro1733Thr)
c.7810C>A (p.Pro2604Thr)
c.5620C>A (p.Pro1874Thr)
c.5296C>A (p.Pro1766Thr)
 gnomAD v4
11g.118503606C>GCA382806685KMT2Ac.7813C>G (p.Pro2605Ala)
c.7804C>G (p.Pro2602Ala)
c.1753C>G (p.Pro585Ala)
c.2011C>G (p.Pro671Ala)
c.7786C>G (p.Pro2596Ala)
c.7705C>G (p.Pro2569Ala)
n.7056C>G
c.7714C>G (p.Pro2572Ala)
c.7591C>G (p.Pro2531Ala)
c.5197C>G (p.Pro1733Ala)
c.7810C>G (p.Pro2604Ala)
c.5620C>G (p.Pro1874Ala)
c.5296C>G (p.Pro1766Ala)
 dbSNP
11g.118503606C>TCA382806686KMT2Ac.7813C>T (p.Pro2605Ser)
c.7804C>T (p.Pro2602Ser)
c.1753C>T (p.Pro585Ser)
c.2011C>T (p.Pro671Ser)
c.7786C>T (p.Pro2596Ser)
c.7705C>T (p.Pro2569Ser)
n.7056C>T
c.7714C>T (p.Pro2572Ser)
c.7591C>T (p.Pro2531Ser)
c.5197C>T (p.Pro1733Ser)
c.7810C>T (p.Pro2604Ser)
c.5620C>T (p.Pro1874Ser)
c.5296C>T (p.Pro1766Ser)
11g.118503607C>ACA382806688KMT2Ac.7814C>A (p.Pro2605Gln)
c.7805C>A (p.Pro2602Gln)
c.1754C>A (p.Pro585Gln)
c.2012C>A (p.Pro671Gln)
c.7787C>A (p.Pro2596Gln)
c.7706C>A (p.Pro2569Gln)
n.7057C>A
c.7715C>A (p.Pro2572Gln)
c.7592C>A (p.Pro2531Gln)
c.5198C>A (p.Pro1733Gln)
c.7811C>A (p.Pro2604Gln)
c.5621C>A (p.Pro1874Gln)
c.5297C>A (p.Pro1766Gln)
11g.118503607C=CA2003528065KMT2Ac.7814C= (p.Pro2605=)
c.7805C= (p.Pro2602=)
c.1754C= (p.Pro585=)
c.2012C= (p.Pro671=)
c.7787C= (p.Pro2596=)
c.7706C= (p.Pro2569=)
n.7057C=
c.7715C= (p.Pro2572=)
c.7592C= (p.Pro2531=)
c.5198C= (p.Pro1733=)
c.7811C= (p.Pro2604=)
c.5621C= (p.Pro1874=)
c.5297C= (p.Pro1766=)
11g.118503607C>GCA382806690KMT2Ac.7814C>G (p.Pro2605Arg)
c.7805C>G (p.Pro2602Arg)
c.1754C>G (p.Pro585Arg)
c.2012C>G (p.Pro671Arg)
c.7787C>G (p.Pro2596Arg)
c.7706C>G (p.Pro2569Arg)
n.7057C>G
c.7715C>G (p.Pro2572Arg)
c.7592C>G (p.Pro2531Arg)
c.5198C>G (p.Pro1733Arg)
c.7811C>G (p.Pro2604Arg)
c.5621C>G (p.Pro1874Arg)
c.5297C>G (p.Pro1766Arg)
11g.118503607C>TCA6304430KMT2Ac.7814C>T (p.Pro2605Leu)
c.7805C>T (p.Pro2602Leu)
c.1754C>T (p.Pro585Leu)
c.2012C>T (p.Pro671Leu)
c.7787C>T (p.Pro2596Leu)
c.7706C>T (p.Pro2569Leu)
n.7057C>T
c.7715C>T (p.Pro2572Leu)
c.7592C>T (p.Pro2531Leu)
c.5198C>T (p.Pro1733Leu)
c.7811C>T (p.Pro2604Leu)
c.5621C>T (p.Pro1874Leu)
c.5297C>T (p.Pro1766Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503608A>CCA477360064KMT2Ac.7815A>C (p.Pro2605=)
c.7806A>C (p.Pro2602=)
c.1755A>C (p.Pro585=)
c.2013A>C (p.Pro671=)
c.7788A>C (p.Pro2596=)
c.7707A>C (p.Pro2569=)
n.7058A>C
c.7716A>C (p.Pro2572=)
c.7593A>C (p.Pro2531=)
c.5199A>C (p.Pro1733=)
c.7812A>C (p.Pro2604=)
c.5622A>C (p.Pro1874=)
c.5298A>C (p.Pro1766=)
11g.118503608A>GCA477360067KMT2Ac.7815A>G (p.Pro2605=)
c.7806A>G (p.Pro2602=)
c.1755A>G (p.Pro585=)
c.2013A>G (p.Pro671=)
c.7788A>G (p.Pro2596=)
c.7707A>G (p.Pro2569=)
n.7058A>G
c.7716A>G (p.Pro2572=)
c.7593A>G (p.Pro2531=)
c.5199A>G (p.Pro1733=)
c.7812A>G (p.Pro2604=)
c.5622A>G (p.Pro1874=)
c.5298A>G (p.Pro1766=)
11g.118503608A>TCA477360070KMT2Ac.7815A>T (p.Pro2605=)
c.7806A>T (p.Pro2602=)
c.1755A>T (p.Pro585=)
c.2013A>T (p.Pro671=)
c.7788A>T (p.Pro2596=)
c.7707A>T (p.Pro2569=)
n.7058A>T
c.7716A>T (p.Pro2572=)
c.7593A>T (p.Pro2531=)
c.5199A>T (p.Pro1733=)
c.7812A>T (p.Pro2604=)
c.5622A>T (p.Pro1874=)
c.5298A>T (p.Pro1766=)
11g.118503609G>ACA382806695KMT2Ac.7816G>A (p.Val2606Met)
c.7807G>A (p.Val2603Met)
c.1756G>A (p.Val586Met)
c.2014G>A (p.Val672Met)
c.7789G>A (p.Val2597Met)
c.7708G>A (p.Val2570Met)
n.7059G>A
c.7717G>A (p.Val2573Met)
c.7594G>A (p.Val2532Met)
c.5200G>A (p.Val1734Met)
c.7813G>A (p.Val2605Met)
c.5623G>A (p.Val1875Met)
c.5299G>A (p.Val1767Met)
 dbSNP
11g.118503609G>CCA382806697KMT2Ac.7816G>C (p.Val2606Leu)
c.7807G>C (p.Val2603Leu)
c.1756G>C (p.Val586Leu)
c.2014G>C (p.Val672Leu)
c.7789G>C (p.Val2597Leu)
c.7708G>C (p.Val2570Leu)
n.7059G>C
c.7717G>C (p.Val2573Leu)
c.7594G>C (p.Val2532Leu)
c.5200G>C (p.Val1734Leu)
c.7813G>C (p.Val2605Leu)
c.5623G>C (p.Val1875Leu)
c.5299G>C (p.Val1767Leu)
11g.118503609G>TCA382806699KMT2Ac.7816G>T (p.Val2606Leu)
c.7807G>T (p.Val2603Leu)
c.1756G>T (p.Val586Leu)
c.2014G>T (p.Val672Leu)
c.7789G>T (p.Val2597Leu)
c.7708G>T (p.Val2570Leu)
n.7059G>T
c.7717G>T (p.Val2573Leu)
c.7594G>T (p.Val2532Leu)
c.5200G>T (p.Val1734Leu)
c.7813G>T (p.Val2605Leu)
c.5623G>T (p.Val1875Leu)
c.5299G>T (p.Val1767Leu)
11g.118503610T>ACA382806706KMT2Ac.7817T>A (p.Val2606Glu)
c.7808T>A (p.Val2603Glu)
c.1757T>A (p.Val586Glu)
c.2015T>A (p.Val672Glu)
c.7790T>A (p.Val2597Glu)
c.7709T>A (p.Val2570Glu)
n.7060T>A
c.7718T>A (p.Val2573Glu)
c.7595T>A (p.Val2532Glu)
c.5201T>A (p.Val1734Glu)
c.7814T>A (p.Val2605Glu)
c.5624T>A (p.Val1875Glu)
c.5300T>A (p.Val1767Glu)
11g.118503610T>CCA382806707KMT2Ac.7817T>C (p.Val2606Ala)
c.7808T>C (p.Val2603Ala)
c.1757T>C (p.Val586Ala)
c.2015T>C (p.Val672Ala)
c.7790T>C (p.Val2597Ala)
c.7709T>C (p.Val2570Ala)
n.7060T>C
c.7718T>C (p.Val2573Ala)
c.7595T>C (p.Val2532Ala)
c.5201T>C (p.Val1734Ala)
c.7814T>C (p.Val2605Ala)
c.5624T>C (p.Val1875Ala)
c.5300T>C (p.Val1767Ala)
11g.118503610T>GCA382806703KMT2Ac.7817T>G (p.Val2606Gly)
c.7808T>G (p.Val2603Gly)
c.1757T>G (p.Val586Gly)
c.2015T>G (p.Val672Gly)
c.7790T>G (p.Val2597Gly)
c.7709T>G (p.Val2570Gly)
n.7060T>G
c.7718T>G (p.Val2573Gly)
c.7595T>G (p.Val2532Gly)
c.5201T>G (p.Val1734Gly)
c.7814T>G (p.Val2605Gly)
c.5624T>G (p.Val1875Gly)
c.5300T>G (p.Val1767Gly)
11g.118503611G>ACA477360073KMT2Ac.7818G>A (p.Val2606=)
c.7809G>A (p.Val2603=)
c.1758G>A (p.Val586=)
c.2016G>A (p.Val672=)
c.7791G>A (p.Val2597=)
c.7710G>A (p.Val2570=)
n.7061G>A
c.7719G>A (p.Val2573=)
c.7596G>A (p.Val2532=)
c.5202G>A (p.Val1734=)
c.7815G>A (p.Val2605=)
c.5625G>A (p.Val1875=)
c.5301G>A (p.Val1767=)
11g.118503611G>CCA477360074KMT2Ac.7818G>C (p.Val2606=)
c.7809G>C (p.Val2603=)
c.1758G>C (p.Val586=)
c.2016G>C (p.Val672=)
c.7791G>C (p.Val2597=)
c.7710G>C (p.Val2570=)
n.7061G>C
c.7719G>C (p.Val2573=)
c.7596G>C (p.Val2532=)
c.5202G>C (p.Val1734=)
c.7815G>C (p.Val2605=)
c.5625G>C (p.Val1875=)
c.5301G>C (p.Val1767=)
11g.118503611G>TCA477360076KMT2Ac.7818G>T (p.Val2606=)
c.7809G>T (p.Val2603=)
c.1758G>T (p.Val586=)
c.2016G>T (p.Val672=)
c.7791G>T (p.Val2597=)
c.7710G>T (p.Val2570=)
n.7061G>T
c.7719G>T (p.Val2573=)
c.7596G>T (p.Val2532=)
c.5202G>T (p.Val1734=)
c.7815G>T (p.Val2605=)
c.5625G>T (p.Val1875=)
c.5301G>T (p.Val1767=)
11g.118503612G>ACA382806709KMT2Ac.7819G>A (p.Ala2607Thr)
c.7810G>A (p.Ala2604Thr)
c.1759G>A (p.Ala587Thr)
c.2017G>A (p.Ala673Thr)
c.7792G>A (p.Ala2598Thr)
c.7711G>A (p.Ala2571Thr)
n.7062G>A
c.7720G>A (p.Ala2574Thr)
c.7597G>A (p.Ala2533Thr)
c.5203G>A (p.Ala1735Thr)
c.7816G>A (p.Ala2606Thr)
c.5626G>A (p.Ala1876Thr)
c.5302G>A (p.Ala1768Thr)
 ClinVar
11g.118503612G>CCA382806715KMT2Ac.7819G>C (p.Ala2607Pro)
c.7810G>C (p.Ala2604Pro)
c.1759G>C (p.Ala587Pro)
c.2017G>C (p.Ala673Pro)
c.7792G>C (p.Ala2598Pro)
c.7711G>C (p.Ala2571Pro)
n.7062G>C
c.7720G>C (p.Ala2574Pro)
c.7597G>C (p.Ala2533Pro)
c.5203G>C (p.Ala1735Pro)
c.7816G>C (p.Ala2606Pro)
c.5626G>C (p.Ala1876Pro)
c.5302G>C (p.Ala1768Pro)
11g.118503612G>TCA382806718KMT2Ac.7819G>T (p.Ala2607Ser)
c.7810G>T (p.Ala2604Ser)
c.1759G>T (p.Ala587Ser)
c.2017G>T (p.Ala673Ser)
c.7792G>T (p.Ala2598Ser)
c.7711G>T (p.Ala2571Ser)
n.7062G>T
c.7720G>T (p.Ala2574Ser)
c.7597G>T (p.Ala2533Ser)
c.5203G>T (p.Ala1735Ser)
c.7816G>T (p.Ala2606Ser)
c.5626G>T (p.Ala1876Ser)
c.5302G>T (p.Ala1768Ser)
11g.118503613C>ACA382806720KMT2Ac.7820C>A (p.Ala2607Asp)
c.7811C>A (p.Ala2604Asp)
c.1760C>A (p.Ala587Asp)
c.2018C>A (p.Ala673Asp)
c.7793C>A (p.Ala2598Asp)
c.7712C>A (p.Ala2571Asp)
n.7063C>A
c.7721C>A (p.Ala2574Asp)
c.7598C>A (p.Ala2533Asp)
c.5204C>A (p.Ala1735Asp)
c.7817C>A (p.Ala2606Asp)
c.5627C>A (p.Ala1876Asp)
c.5303C>A (p.Ala1768Asp)
11g.118503613C>GCA382806722KMT2Ac.7820C>G (p.Ala2607Gly)
c.7811C>G (p.Ala2604Gly)
c.1760C>G (p.Ala587Gly)
c.2018C>G (p.Ala673Gly)
c.7793C>G (p.Ala2598Gly)
c.7712C>G (p.Ala2571Gly)
n.7063C>G
c.7721C>G (p.Ala2574Gly)
c.7598C>G (p.Ala2533Gly)
c.5204C>G (p.Ala1735Gly)
c.7817C>G (p.Ala2606Gly)
c.5627C>G (p.Ala1876Gly)
c.5303C>G (p.Ala1768Gly)
11g.118503613C>TCA382806725KMT2Ac.7820C>T (p.Ala2607Val)
c.7811C>T (p.Ala2604Val)
c.1760C>T (p.Ala587Val)
c.2018C>T (p.Ala673Val)
c.7793C>T (p.Ala2598Val)
c.7712C>T (p.Ala2571Val)
n.7063C>T
c.7721C>T (p.Ala2574Val)
c.7598C>T (p.Ala2533Val)
c.5204C>T (p.Ala1735Val)
c.7817C>T (p.Ala2606Val)
c.5627C>T (p.Ala1876Val)
c.5303C>T (p.Ala1768Val)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.118503613_118503617delinsCCCAACA2003528069KMT2Ac.7820_7824delinsCCCAA (p.Ala2607=)
c.7811_7815delinsCCCAA (p.Ala2604=)
c.1760_1764delinsCCCAA (p.Ala587=)
c.2018_2022delinsCCCAA (p.Ala673=)
c.7793_7797delinsCCCAA (p.Ala2598=)
c.7712_7716delinsCCCAA (p.Ala2571=)
n.7063_7067delinsCCCAA
c.7721_7725delinsCCCAA (p.Ala2574=)
c.7598_7602delinsCCCAA (p.Ala2533=)
c.5204_5208delinsCCCAA (p.Ala1735=)
c.7817_7821delinsCCCAA (p.Ala2606=)
c.5627_5631delinsCCCAA (p.Ala1876=)
c.5303_5307delinsCCCAA (p.Ala1768=)
11g.118503614C>ACA6304431KMT2Ac.7821C>A (p.Ala2607=)
c.7812C>A (p.Ala2604=)
c.1761C>A (p.Ala587=)
c.2019C>A (p.Ala673=)
c.7794C>A (p.Ala2598=)
c.7713C>A (p.Ala2571=)
n.7064C>A
c.7722C>A (p.Ala2574=)
c.7599C>A (p.Ala2533=)
c.5205C>A (p.Ala1735=)
c.7818C>A (p.Ala2606=)
c.5628C>A (p.Ala1876=)
c.5304C>A (p.Ala1768=)
 dbSNP ExAC gnomAD v2
11g.118503614C=CA2003528079KMT2Ac.7821C= (p.Ala2607=)
c.7812C= (p.Ala2604=)
c.1761C= (p.Ala587=)
c.2019C= (p.Ala673=)
c.7794C= (p.Ala2598=)
c.7713C= (p.Ala2571=)
n.7064C=
c.7722C= (p.Ala2574=)
c.7599C= (p.Ala2533=)
c.5205C= (p.Ala1735=)
c.7818C= (p.Ala2606=)
c.5628C= (p.Ala1876=)
c.5304C= (p.Ala1768=)
11g.118503614C>GCA477360083KMT2Ac.7821C>G (p.Ala2607=)
c.7812C>G (p.Ala2604=)
c.1761C>G (p.Ala587=)
c.2019C>G (p.Ala673=)
c.7794C>G (p.Ala2598=)
c.7713C>G (p.Ala2571=)
n.7064C>G
c.7722C>G (p.Ala2574=)
c.7599C>G (p.Ala2533=)
c.5205C>G (p.Ala1735=)
c.7818C>G (p.Ala2606=)
c.5628C>G (p.Ala1876=)
c.5304C>G (p.Ala1768=)
11g.118503614C>TCA477360082KMT2Ac.7821C>T (p.Ala2607=)
c.7812C>T (p.Ala2604=)
c.1761C>T (p.Ala587=)
c.2019C>T (p.Ala673=)
c.7794C>T (p.Ala2598=)
c.7713C>T (p.Ala2571=)
n.7064C>T
c.7722C>T (p.Ala2574=)
c.7599C>T (p.Ala2533=)
c.5205C>T (p.Ala1735=)
c.7818C>T (p.Ala2606=)
c.5628C>T (p.Ala1876=)
c.5304C>T (p.Ala1768=)
11g.118503618_118503621delCA658797810KMT2Ac.7825_7828del (p.Pro2609AlafsTer25)
c.7816_7819del (p.Pro2606AlafsTer25)
c.1765_1768del (p.Pro589AlafsTer25)
c.2023_2026del (p.Pro675AlafsTer25)
c.7798_7801del (p.Pro2600AlafsTer25)
c.7717_7720del (p.Pro2573AlafsTer25)
n.7068_7071del
c.7726_7729del (p.Pro2576AlafsTer25)
c.7603_7606del (p.Pro2535AlafsTer25)
c.5209_5212del (p.Pro1737AlafsTer25)
c.7822_7825del (p.Pro2608AlafsTer25)
c.5632_5635del (p.Pro1878AlafsTer25)
c.5308_5311del (p.Pro1770AlafsTer25)
 ClinVar dbSNP
11g.118503615C>ACA382806730KMT2Ac.7822C>A (p.Gln2608Lys)
c.7813C>A (p.Gln2605Lys)
c.1762C>A (p.Gln588Lys)
c.2020C>A (p.Gln674Lys)
c.7795C>A (p.Gln2599Lys)
c.7714C>A (p.Gln2572Lys)
n.7065C>A
c.7723C>A (p.Gln2575Lys)
c.7600C>A (p.Gln2534Lys)
c.5206C>A (p.Gln1736Lys)
c.7819C>A (p.Gln2607Lys)
c.5629C>A (p.Gln1877Lys)
c.5305C>A (p.Gln1769Lys)
11g.118503615C>GCA382806734KMT2Ac.7822C>G (p.Gln2608Glu)
c.7813C>G (p.Gln2605Glu)
c.1762C>G (p.Gln588Glu)
c.2020C>G (p.Gln674Glu)
c.7795C>G (p.Gln2599Glu)
c.7714C>G (p.Gln2572Glu)
n.7065C>G
c.7723C>G (p.Gln2575Glu)
c.7600C>G (p.Gln2534Glu)
c.5206C>G (p.Gln1736Glu)
c.7819C>G (p.Gln2607Glu)
c.5629C>G (p.Gln1877Glu)
c.5305C>G (p.Gln1769Glu)
11g.118503615C>TCA382806736KMT2Ac.7822C>T (p.Gln2608Ter)
c.7813C>T (p.Gln2605Ter)
c.1762C>T (p.Gln588Ter)
c.2020C>T (p.Gln674Ter)
c.7795C>T (p.Gln2599Ter)
c.7714C>T (p.Gln2572Ter)
n.7065C>T
c.7723C>T (p.Gln2575Ter)
c.7600C>T (p.Gln2534Ter)
c.5206C>T (p.Gln1736Ter)
c.7819C>T (p.Gln2607Ter)
c.5629C>T (p.Gln1877Ter)
c.5305C>T (p.Gln1769Ter)
11g.118503616A=CA2003528086KMT2Ac.7823A= (p.Gln2608=)
c.7814A= (p.Gln2605=)
c.1763A= (p.Gln588=)
c.2021A= (p.Gln674=)
c.7796A= (p.Gln2599=)
c.7715A= (p.Gln2572=)
n.7066A=
c.7724A= (p.Gln2575=)
c.7601A= (p.Gln2534=)
c.5207A= (p.Gln1736=)
c.7820A= (p.Gln2607=)
c.5630A= (p.Gln1877=)
c.5306A= (p.Gln1769=)
11g.118503616A>CCA382806739KMT2Ac.7823A>C (p.Gln2608Pro)
c.7814A>C (p.Gln2605Pro)
c.1763A>C (p.Gln588Pro)
c.2021A>C (p.Gln674Pro)
c.7796A>C (p.Gln2599Pro)
c.7715A>C (p.Gln2572Pro)
n.7066A>C
c.7724A>C (p.Gln2575Pro)
c.7601A>C (p.Gln2534Pro)
c.5207A>C (p.Gln1736Pro)
c.7820A>C (p.Gln2607Pro)
c.5630A>C (p.Gln1877Pro)
c.5306A>C (p.Gln1769Pro)
11g.118503616A>GCA229527037KMT2Ac.7823A>G (p.Gln2608Arg)
c.7814A>G (p.Gln2605Arg)
c.1763A>G (p.Gln588Arg)
c.2021A>G (p.Gln674Arg)
c.7796A>G (p.Gln2599Arg)
c.7715A>G (p.Gln2572Arg)
n.7066A>G
c.7724A>G (p.Gln2575Arg)
c.7601A>G (p.Gln2534Arg)
c.5207A>G (p.Gln1736Arg)
c.7820A>G (p.Gln2607Arg)
c.5630A>G (p.Gln1877Arg)
c.5306A>G (p.Gln1769Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.118503616A>TCA382806742KMT2Ac.7823A>T (p.Gln2608Leu)
c.7814A>T (p.Gln2605Leu)
c.1763A>T (p.Gln588Leu)
c.2021A>T (p.Gln674Leu)
c.7796A>T (p.Gln2599Leu)
c.7715A>T (p.Gln2572Leu)
n.7066A>T
c.7724A>T (p.Gln2575Leu)
c.7601A>T (p.Gln2534Leu)
c.5207A>T (p.Gln1736Leu)
c.7820A>T (p.Gln2607Leu)
c.5630A>T (p.Gln1877Leu)
c.5306A>T (p.Gln1769Leu)
11g.118503617A=CA2003528090KMT2Ac.7824A= (p.Gln2608=)
c.7815A= (p.Gln2605=)
c.1764A= (p.Gln588=)
c.2022A= (p.Gln674=)
c.7797A= (p.Gln2599=)
c.7716A= (p.Gln2572=)
n.7067A=
c.7725A= (p.Gln2575=)
c.7602A= (p.Gln2534=)
c.5208A= (p.Gln1736=)
c.7821A= (p.Gln2607=)
c.5631A= (p.Gln1877=)
c.5307A= (p.Gln1769=)
11g.118503617A>CCA382806752KMT2Ac.7824A>C (p.Gln2608His)
c.7815A>C (p.Gln2605His)
c.1764A>C (p.Gln588His)
c.2022A>C (p.Gln674His)
c.7797A>C (p.Gln2599His)
c.7716A>C (p.Gln2572His)
n.7067A>C
c.7725A>C (p.Gln2575His)
c.7602A>C (p.Gln2534His)
c.5208A>C (p.Gln1736His)
c.7821A>C (p.Gln2607His)
c.5631A>C (p.Gln1877His)
c.5307A>C (p.Gln1769His)
11g.118503617A>GCA6304432KMT2Ac.7824A>G (p.Gln2608=)
c.7815A>G (p.Gln2605=)
c.1764A>G (p.Gln588=)
c.2022A>G (p.Gln674=)
c.7797A>G (p.Gln2599=)
c.7716A>G (p.Gln2572=)
n.7067A>G
c.7725A>G (p.Gln2575=)
c.7602A>G (p.Gln2534=)
c.5208A>G (p.Gln1736=)
c.7821A>G (p.Gln2607=)
c.5631A>G (p.Gln1877=)
c.5307A>G (p.Gln1769=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503617A>TCA382806747KMT2Ac.7824A>T (p.Gln2608His)
c.7815A>T (p.Gln2605His)
c.1764A>T (p.Gln588His)
c.2022A>T (p.Gln674His)
c.7797A>T (p.Gln2599His)
c.7716A>T (p.Gln2572His)
n.7067A>T
c.7725A>T (p.Gln2575His)
c.7602A>T (p.Gln2534His)
c.5208A>T (p.Gln1736His)
c.7821A>T (p.Gln2607His)
c.5631A>T (p.Gln1877His)
c.5307A>T (p.Gln1769His)
11g.118503618C>ACA382806754KMT2Ac.7825C>A (p.Pro2609Thr)
c.7816C>A (p.Pro2606Thr)
c.1765C>A (p.Pro589Thr)
c.2023C>A (p.Pro675Thr)
c.7798C>A (p.Pro2600Thr)
c.7717C>A (p.Pro2573Thr)
n.7068C>A
c.7726C>A (p.Pro2576Thr)
c.7603C>A (p.Pro2535Thr)
c.5209C>A (p.Pro1737Thr)
c.7822C>A (p.Pro2608Thr)
c.5632C>A (p.Pro1878Thr)
c.5308C>A (p.Pro1770Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.118503618C=CA2003528097KMT2Ac.7825C= (p.Pro2609=)
c.7816C= (p.Pro2606=)
c.1765C= (p.Pro589=)
c.2023C= (p.Pro675=)
c.7798C= (p.Pro2600=)
c.7717C= (p.Pro2573=)
n.7068C=
c.7726C= (p.Pro2576=)
c.7603C= (p.Pro2535=)
c.5209C= (p.Pro1737=)
c.7822C= (p.Pro2608=)
c.5632C= (p.Pro1878=)
c.5308C= (p.Pro1770=)
11g.118503618C>GCA382806756KMT2Ac.7825C>G (p.Pro2609Ala)
c.7816C>G (p.Pro2606Ala)
c.1765C>G (p.Pro589Ala)
c.2023C>G (p.Pro675Ala)
c.7798C>G (p.Pro2600Ala)
c.7717C>G (p.Pro2573Ala)
n.7068C>G
c.7726C>G (p.Pro2576Ala)
c.7603C>G (p.Pro2535Ala)
c.5209C>G (p.Pro1737Ala)
c.7822C>G (p.Pro2608Ala)
c.5632C>G (p.Pro1878Ala)
c.5308C>G (p.Pro1770Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.118503618C>TCA382806759KMT2Ac.7825C>T (p.Pro2609Ser)
c.7816C>T (p.Pro2606Ser)
c.1765C>T (p.Pro589Ser)
c.2023C>T (p.Pro675Ser)
c.7798C>T (p.Pro2600Ser)
c.7717C>T (p.Pro2573Ser)
n.7068C>T
c.7726C>T (p.Pro2576Ser)
c.7603C>T (p.Pro2535Ser)
c.5209C>T (p.Pro1737Ser)
c.7822C>T (p.Pro2608Ser)
c.5632C>T (p.Pro1878Ser)
c.5308C>T (p.Pro1770Ser)
 dbSNP COSMIC COSMIC
11g.118503619C>ACA382806762KMT2Ac.7826C>A (p.Pro2609Gln)
c.7817C>A (p.Pro2606Gln)
c.1766C>A (p.Pro589Gln)
c.2024C>A (p.Pro675Gln)
c.7799C>A (p.Pro2600Gln)
c.7718C>A (p.Pro2573Gln)
n.7069C>A
c.7727C>A (p.Pro2576Gln)
c.7604C>A (p.Pro2535Gln)
c.5210C>A (p.Pro1737Gln)
c.7823C>A (p.Pro2608Gln)
c.5633C>A (p.Pro1878Gln)
c.5309C>A (p.Pro1770Gln)
11g.118503619C>GCA382806765KMT2Ac.7826C>G (p.Pro2609Arg)
c.7817C>G (p.Pro2606Arg)
c.1766C>G (p.Pro589Arg)
c.2024C>G (p.Pro675Arg)
c.7799C>G (p.Pro2600Arg)
c.7718C>G (p.Pro2573Arg)
n.7069C>G
c.7727C>G (p.Pro2576Arg)
c.7604C>G (p.Pro2535Arg)
c.5210C>G (p.Pro1737Arg)
c.7823C>G (p.Pro2608Arg)
c.5633C>G (p.Pro1878Arg)
c.5309C>G (p.Pro1770Arg)
11g.118503619C>TCA382806767KMT2Ac.7826C>T (p.Pro2609Leu)
c.7817C>T (p.Pro2606Leu)
c.1766C>T (p.Pro589Leu)
c.2024C>T (p.Pro675Leu)
c.7799C>T (p.Pro2600Leu)
c.7718C>T (p.Pro2573Leu)
n.7069C>T
c.7727C>T (p.Pro2576Leu)
c.7604C>T (p.Pro2535Leu)
c.5210C>T (p.Pro1737Leu)
c.7823C>T (p.Pro2608Leu)
c.5633C>T (p.Pro1878Leu)
c.5309C>T (p.Pro1770Leu)
11g.118503620A>CCA477360098KMT2Ac.7827A>C (p.Pro2609=)
c.7818A>C (p.Pro2606=)
c.1767A>C (p.Pro589=)
c.2025A>C (p.Pro675=)
c.7800A>C (p.Pro2600=)
c.7719A>C (p.Pro2573=)
n.7070A>C
c.7728A>C (p.Pro2576=)
c.7605A>C (p.Pro2535=)
c.5211A>C (p.Pro1737=)
c.7824A>C (p.Pro2608=)
c.5634A>C (p.Pro1878=)
c.5310A>C (p.Pro1770=)
11g.118503620A>GCA477360102KMT2Ac.7827A>G (p.Pro2609=)
c.7818A>G (p.Pro2606=)
c.1767A>G (p.Pro589=)
c.2025A>G (p.Pro675=)
c.7800A>G (p.Pro2600=)
c.7719A>G (p.Pro2573=)
n.7070A>G
c.7728A>G (p.Pro2576=)
c.7605A>G (p.Pro2535=)
c.5211A>G (p.Pro1737=)
c.7824A>G (p.Pro2608=)
c.5634A>G (p.Pro1878=)
c.5310A>G (p.Pro1770=)
11g.118503620A>TCA477360101KMT2Ac.7827A>T (p.Pro2609=)
c.7818A>T (p.Pro2606=)
c.1767A>T (p.Pro589=)
c.2025A>T (p.Pro675=)
c.7800A>T (p.Pro2600=)
c.7719A>T (p.Pro2573=)
n.7070A>T
c.7728A>T (p.Pro2576=)
c.7605A>T (p.Pro2535=)
c.5211A>T (p.Pro1737=)
c.7824A>T (p.Pro2608=)
c.5634A>T (p.Pro1878=)
c.5310A>T (p.Pro1770=)
 dbSNP
11g.118503621A>CCA382806769KMT2Ac.7828A>C (p.Ser2610Arg)
c.7819A>C (p.Ser2607Arg)
c.1768A>C (p.Ser590Arg)
c.2026A>C (p.Ser676Arg)
c.7801A>C (p.Ser2601Arg)
c.7720A>C (p.Ser2574Arg)
n.7071A>C
c.7729A>C (p.Ser2577Arg)
c.7606A>C (p.Ser2536Arg)
c.5212A>C (p.Ser1738Arg)
c.7825A>C (p.Ser2609Arg)
c.5635A>C (p.Ser1879Arg)
c.5311A>C (p.Ser1771Arg)
11g.118503621A>GCA382806772KMT2Ac.7828A>G (p.Ser2610Gly)
c.7819A>G (p.Ser2607Gly)
c.1768A>G (p.Ser590Gly)
c.2026A>G (p.Ser676Gly)
c.7801A>G (p.Ser2601Gly)
c.7720A>G (p.Ser2574Gly)
n.7071A>G
c.7729A>G (p.Ser2577Gly)
c.7606A>G (p.Ser2536Gly)
c.5212A>G (p.Ser1738Gly)
c.7825A>G (p.Ser2609Gly)
c.5635A>G (p.Ser1879Gly)
c.5311A>G (p.Ser1771Gly)
11g.118503621A>TCA382806775KMT2Ac.7828A>T (p.Ser2610Cys)
c.7819A>T (p.Ser2607Cys)
c.1768A>T (p.Ser590Cys)
c.2026A>T (p.Ser676Cys)
c.7801A>T (p.Ser2601Cys)
c.7720A>T (p.Ser2574Cys)
n.7071A>T
c.7729A>T (p.Ser2577Cys)
c.7606A>T (p.Ser2536Cys)
c.5212A>T (p.Ser1738Cys)
c.7825A>T (p.Ser2609Cys)
c.5635A>T (p.Ser1879Cys)
c.5311A>T (p.Ser1771Cys)
11g.118503622G>ACA382806778KMT2Ac.7829G>A (p.Ser2610Asn)
c.7820G>A (p.Ser2607Asn)
c.1769G>A (p.Ser590Asn)
c.2027G>A (p.Ser676Asn)
c.7802G>A (p.Ser2601Asn)
c.7721G>A (p.Ser2574Asn)
n.7072G>A
c.7730G>A (p.Ser2577Asn)
c.7607G>A (p.Ser2536Asn)
c.5213G>A (p.Ser1738Asn)
c.7826G>A (p.Ser2609Asn)
c.5636G>A (p.Ser1879Asn)
c.5312G>A (p.Ser1771Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503622G>CCA382806779KMT2Ac.7829G>C (p.Ser2610Thr)
c.7820G>C (p.Ser2607Thr)
c.1769G>C (p.Ser590Thr)
c.2027G>C (p.Ser676Thr)
c.7802G>C (p.Ser2601Thr)
c.7721G>C (p.Ser2574Thr)
n.7072G>C
c.7730G>C (p.Ser2577Thr)
c.7607G>C (p.Ser2536Thr)
c.5213G>C (p.Ser1738Thr)
c.7826G>C (p.Ser2609Thr)
c.5636G>C (p.Ser1879Thr)
c.5312G>C (p.Ser1771Thr)
11g.118503622G=CA2003528101KMT2Ac.7829G= (p.Ser2610=)
c.7820G= (p.Ser2607=)
c.1769G= (p.Ser590=)
c.2027G= (p.Ser676=)
c.7802G= (p.Ser2601=)
c.7721G= (p.Ser2574=)
n.7072G=
c.7730G= (p.Ser2577=)
c.7607G= (p.Ser2536=)
c.5213G= (p.Ser1738=)
c.7826G= (p.Ser2609=)
c.5636G= (p.Ser1879=)
c.5312G= (p.Ser1771=)
11g.118503622G>TCA382806780KMT2Ac.7829G>T (p.Ser2610Ile)
c.7820G>T (p.Ser2607Ile)
c.1769G>T (p.Ser590Ile)
c.2027G>T (p.Ser676Ile)
c.7802G>T (p.Ser2601Ile)
c.7721G>T (p.Ser2574Ile)
n.7072G>T
c.7730G>T (p.Ser2577Ile)
c.7607G>T (p.Ser2536Ile)
c.5213G>T (p.Ser1738Ile)
c.7826G>T (p.Ser2609Ile)
c.5636G>T (p.Ser1879Ile)
c.5312G>T (p.Ser1771Ile)
11g.118503623C>ACA382806781KMT2Ac.7830C>A (p.Ser2610Arg)
c.7821C>A (p.Ser2607Arg)
c.1770C>A (p.Ser590Arg)
c.2028C>A (p.Ser676Arg)
c.7803C>A (p.Ser2601Arg)
c.7722C>A (p.Ser2574Arg)
n.7073C>A
c.7731C>A (p.Ser2577Arg)
c.7608C>A (p.Ser2536Arg)
c.5214C>A (p.Ser1738Arg)
c.7827C>A (p.Ser2609Arg)
c.5637C>A (p.Ser1879Arg)
c.5313C>A (p.Ser1771Arg)
 dbSNP
11g.118503623C>GCA382806782KMT2Ac.7830C>G (p.Ser2610Arg)
c.7821C>G (p.Ser2607Arg)
c.1770C>G (p.Ser590Arg)
c.2028C>G (p.Ser676Arg)
c.7803C>G (p.Ser2601Arg)
c.7722C>G (p.Ser2574Arg)
n.7073C>G
c.7731C>G (p.Ser2577Arg)
c.7608C>G (p.Ser2536Arg)
c.5214C>G (p.Ser1738Arg)
c.7827C>G (p.Ser2609Arg)
c.5637C>G (p.Ser1879Arg)
c.5313C>G (p.Ser1771Arg)
11g.118503623C>TCA477360110KMT2Ac.7830C>T (p.Ser2610=)
c.7821C>T (p.Ser2607=)
c.1770C>T (p.Ser590=)
c.2028C>T (p.Ser676=)
c.7803C>T (p.Ser2601=)
c.7722C>T (p.Ser2574=)
n.7073C>T
c.7731C>T (p.Ser2577=)
c.7608C>T (p.Ser2536=)
c.5214C>T (p.Ser1738=)
c.7827C>T (p.Ser2609=)
c.5637C>T (p.Ser1879=)
c.5313C>T (p.Ser1771=)
 dbSNP
11g.118503626delCA2725067211KMT2Ac.7833del (p.Asn2612IlefsTer23)
c.7824del (p.Asn2609IlefsTer23)
c.1773del (p.Asn592IlefsTer23)
c.2031del (p.Asn678IlefsTer23)
c.7806del (p.Asn2603IlefsTer23)
c.7725del (p.Asn2576IlefsTer23)
n.7076del
c.7734del (p.Asn2579IlefsTer23)
c.7611del (p.Asn2538IlefsTer23)
c.5217del (p.Asn1740IlefsTer23)
c.7830del (p.Asn2611IlefsTer23)
c.5640del (p.Asn1881IlefsTer23)
c.5316del (p.Asn1773IlefsTer23)
 dbSNP
11g.118503624C>ACA382806785KMT2Ac.7831C>A (p.Pro2611Thr)
c.7822C>A (p.Pro2608Thr)
c.1771C>A (p.Pro591Thr)
c.2029C>A (p.Pro677Thr)
c.7804C>A (p.Pro2602Thr)
c.7723C>A (p.Pro2575Thr)
n.7074C>A
c.7732C>A (p.Pro2578Thr)
c.7609C>A (p.Pro2537Thr)
c.5215C>A (p.Pro1739Thr)
c.7828C>A (p.Pro2610Thr)
c.5638C>A (p.Pro1880Thr)
c.5314C>A (p.Pro1772Thr)
 dbSNP
11g.118503624C>GCA382806787KMT2Ac.7831C>G (p.Pro2611Ala)
c.7822C>G (p.Pro2608Ala)
c.1771C>G (p.Pro591Ala)
c.2029C>G (p.Pro677Ala)
c.7804C>G (p.Pro2602Ala)
c.7723C>G (p.Pro2575Ala)
n.7074C>G
c.7732C>G (p.Pro2578Ala)
c.7609C>G (p.Pro2537Ala)
c.5215C>G (p.Pro1739Ala)
c.7828C>G (p.Pro2610Ala)
c.5638C>G (p.Pro1880Ala)
c.5314C>G (p.Pro1772Ala)
 dbSNP
11g.118503624C>TCA382806784KMT2Ac.7831C>T (p.Pro2611Ser)
c.7822C>T (p.Pro2608Ser)
c.1771C>T (p.Pro591Ser)
c.2029C>T (p.Pro677Ser)
c.7804C>T (p.Pro2602Ser)
c.7723C>T (p.Pro2575Ser)
n.7074C>T
c.7732C>T (p.Pro2578Ser)
c.7609C>T (p.Pro2537Ser)
c.5215C>T (p.Pro1739Ser)
c.7828C>T (p.Pro2610Ser)
c.5638C>T (p.Pro1880Ser)
c.5314C>T (p.Pro1772Ser)
11g.118503625C>ACA382806788KMT2Ac.7832C>A (p.Pro2611His)
c.7823C>A (p.Pro2608His)
c.1772C>A (p.Pro591His)
c.2030C>A (p.Pro677His)
c.7805C>A (p.Pro2602His)
c.7724C>A (p.Pro2575His)
n.7075C>A
c.7733C>A (p.Pro2578His)
c.7610C>A (p.Pro2537His)
c.5216C>A (p.Pro1739His)
c.7829C>A (p.Pro2610His)
c.5639C>A (p.Pro1880His)
c.5315C>A (p.Pro1772His)
 dbSNP
11g.118503625C>GCA382806790KMT2Ac.7832C>G (p.Pro2611Arg)
c.7823C>G (p.Pro2608Arg)
c.1772C>G (p.Pro591Arg)
c.2030C>G (p.Pro677Arg)
c.7805C>G (p.Pro2602Arg)
c.7724C>G (p.Pro2575Arg)
n.7075C>G
c.7733C>G (p.Pro2578Arg)
c.7610C>G (p.Pro2537Arg)
c.5216C>G (p.Pro1739Arg)
c.7829C>G (p.Pro2610Arg)
c.5639C>G (p.Pro1880Arg)
c.5315C>G (p.Pro1772Arg)
 gnomAD v4
11g.118503625C>TCA382806791KMT2Ac.7832C>T (p.Pro2611Leu)
c.7823C>T (p.Pro2608Leu)
c.1772C>T (p.Pro591Leu)
c.2030C>T (p.Pro677Leu)
c.7805C>T (p.Pro2602Leu)
c.7724C>T (p.Pro2575Leu)
n.7075C>T
c.7733C>T (p.Pro2578Leu)
c.7610C>T (p.Pro2537Leu)
c.5216C>T (p.Pro1739Leu)
c.7829C>T (p.Pro2610Leu)
c.5639C>T (p.Pro1880Leu)
c.5315C>T (p.Pro1772Leu)
 dbSNP COSMIC COSMIC
11g.118503626C>ACA477360123KMT2Ac.7833C>A (p.Pro2611=)
c.7824C>A (p.Pro2608=)
c.1773C>A (p.Pro591=)
c.2031C>A (p.Pro677=)
c.7806C>A (p.Pro2602=)
c.7725C>A (p.Pro2575=)
n.7076C>A
c.7734C>A (p.Pro2578=)
c.7611C>A (p.Pro2537=)
c.5217C>A (p.Pro1739=)
c.7830C>A (p.Pro2610=)
c.5640C>A (p.Pro1880=)
c.5316C>A (p.Pro1772=)
11g.118503626C>GCA477360124KMT2Ac.7833C>G (p.Pro2611=)
c.7824C>G (p.Pro2608=)
c.1773C>G (p.Pro591=)
c.2031C>G (p.Pro677=)
c.7806C>G (p.Pro2602=)
c.7725C>G (p.Pro2575=)
n.7076C>G
c.7734C>G (p.Pro2578=)
c.7611C>G (p.Pro2537=)
c.5217C>G (p.Pro1739=)
c.7830C>G (p.Pro2610=)
c.5640C>G (p.Pro1880=)
c.5316C>G (p.Pro1772=)
11g.118503626C>TCA477360125KMT2Ac.7833C>T (p.Pro2611=)
c.7824C>T (p.Pro2608=)
c.1773C>T (p.Pro591=)
c.2031C>T (p.Pro677=)
c.7806C>T (p.Pro2602=)
c.7725C>T (p.Pro2575=)
n.7076C>T
c.7734C>T (p.Pro2578=)
c.7611C>T (p.Pro2537=)
c.5217C>T (p.Pro1739=)
c.7830C>T (p.Pro2610=)
c.5640C>T (p.Pro1880=)
c.5316C>T (p.Pro1772=)
11g.118503626_118503629delinsCAATCA2003528103KMT2Ac.7833_7836delinsCAAT (p.Pro2611=)
c.7824_7827delinsCAAT (p.Pro2608=)
c.1773_1776delinsCAAT (p.Pro591=)
c.2031_2034delinsCAAT (p.Pro677=)
c.7806_7809delinsCAAT (p.Pro2602=)
c.7725_7728delinsCAAT (p.Pro2575=)
n.7076_7079delinsCAAT
c.7734_7737delinsCAAT (p.Pro2578=)
c.7611_7614delinsCAAT (p.Pro2537=)
c.5217_5220delinsCAAT (p.Pro1739=)
c.7830_7833delinsCAAT (p.Pro2610=)
c.5640_5643delinsCAAT (p.Pro1880=)
c.5316_5319delinsCAAT (p.Pro1772=)
11g.118503627A=CA2003528107KMT2Ac.7834A= (p.Asn2612=)
c.7825A= (p.Asn2609=)
c.1774A= (p.Asn592=)
c.2032A= (p.Asn678=)
c.7807A= (p.Asn2603=)
c.7726A= (p.Asn2576=)
n.7077A=
c.7735A= (p.Asn2579=)
c.7612A= (p.Asn2538=)
c.5218A= (p.Asn1740=)
c.7831A= (p.Asn2611=)
c.5641A= (p.Asn1881=)
c.5317A= (p.Asn1773=)
11g.118503627A>CCA382806794KMT2Ac.7834A>C (p.Asn2612His)
c.7825A>C (p.Asn2609His)
c.1774A>C (p.Asn592His)
c.2032A>C (p.Asn678His)
c.7807A>C (p.Asn2603His)
c.7726A>C (p.Asn2576His)
n.7077A>C
c.7735A>C (p.Asn2579His)
c.7612A>C (p.Asn2538His)
c.5218A>C (p.Asn1740His)
c.7831A>C (p.Asn2611His)
c.5641A>C (p.Asn1881His)
c.5317A>C (p.Asn1773His)
11g.118503627A>GCA382806796KMT2Ac.7834A>G (p.Asn2612Asp)
c.7825A>G (p.Asn2609Asp)
c.1774A>G (p.Asn592Asp)
c.2032A>G (p.Asn678Asp)
c.7807A>G (p.Asn2603Asp)
c.7726A>G (p.Asn2576Asp)
n.7077A>G
c.7735A>G (p.Asn2579Asp)
c.7612A>G (p.Asn2538Asp)
c.5218A>G (p.Asn1740Asp)
c.7831A>G (p.Asn2611Asp)
c.5641A>G (p.Asn1881Asp)
c.5317A>G (p.Asn1773Asp)
11g.118503627A>TCA382806798KMT2Ac.7834A>T (p.Asn2612Tyr)
c.7825A>T (p.Asn2609Tyr)
c.1774A>T (p.Asn592Tyr)
c.2032A>T (p.Asn678Tyr)
c.7807A>T (p.Asn2603Tyr)
c.7726A>T (p.Asn2576Tyr)
n.7077A>T
c.7735A>T (p.Asn2579Tyr)
c.7612A>T (p.Asn2538Tyr)
c.5218A>T (p.Asn1740Tyr)
c.7831A>T (p.Asn2611Tyr)
c.5641A>T (p.Asn1881Tyr)
c.5317A>T (p.Asn1773Tyr)
11g.118503631_118503633delCA672353505KMT2Ac.7838_7840del (p.Asn2613del)
c.7829_7831del (p.Asn2610del)
c.1778_1780del (p.Asn593del)
c.2036_2038del (p.Asn679del)
c.7811_7813del (p.Asn2604del)
c.7730_7732del (p.Asn2577del)
n.7081_7083del
c.7739_7741del (p.Asn2580del)
c.7616_7618del (p.Asn2539del)
c.5222_5224del (p.Asn1741del)
c.7835_7837del (p.Asn2612del)
c.5645_5647del (p.Asn1882del)
c.5321_5323del (p.Asn1774del)
 dbSNP gnomAD v4
11g.118503627_118503628insGCA229527052KMT2Ac.7834_7835insG (p.Asn2612ArgfsTer2)
c.7825_7826insG (p.Asn2609ArgfsTer2)
c.1774_1775insG (p.Asn592ArgfsTer2)
c.2032_2033insG (p.Asn678ArgfsTer2)
c.7807_7808insG (p.Asn2603ArgfsTer2)
c.7726_7727insG (p.Asn2576ArgfsTer2)
n.7077_7078insG
c.7735_7736insG (p.Asn2579ArgfsTer2)
c.7612_7613insG (p.Asn2538ArgfsTer2)
c.5218_5219insG (p.Asn1740ArgfsTer2)
c.7831_7832insG (p.Asn2611ArgfsTer2)
c.5641_5642insG (p.Asn1881ArgfsTer2)
c.5317_5318insG (p.Asn1773ArgfsTer2)
 dbSNP
11g.118503628A=CA2003528110KMT2Ac.7835A= (p.Asn2612=)
c.7826A= (p.Asn2609=)
c.1775A= (p.Asn592=)
c.2033A= (p.Asn678=)
c.7808A= (p.Asn2603=)
c.7727A= (p.Asn2576=)
n.7078A=
c.7736A= (p.Asn2579=)
c.7613A= (p.Asn2538=)
c.5219A= (p.Asn1740=)
c.7832A= (p.Asn2611=)
c.5642A= (p.Asn1881=)
c.5318A= (p.Asn1773=)
11g.118503628A>CCA382806804KMT2Ac.7835A>C (p.Asn2612Thr)
c.7826A>C (p.Asn2609Thr)
c.1775A>C (p.Asn592Thr)
c.2033A>C (p.Asn678Thr)
c.7808A>C (p.Asn2603Thr)
c.7727A>C (p.Asn2576Thr)
n.7078A>C
c.7736A>C (p.Asn2579Thr)
c.7613A>C (p.Asn2538Thr)
c.5219A>C (p.Asn1740Thr)
c.7832A>C (p.Asn2611Thr)
c.5642A>C (p.Asn1881Thr)
c.5318A>C (p.Asn1773Thr)
11g.118503628A>GCA6304433KMT2Ac.7835A>G (p.Asn2612Ser)
c.7826A>G (p.Asn2609Ser)
c.1775A>G (p.Asn592Ser)
c.2033A>G (p.Asn678Ser)
c.7808A>G (p.Asn2603Ser)
c.7727A>G (p.Asn2576Ser)
n.7078A>G
c.7736A>G (p.Asn2579Ser)
c.7613A>G (p.Asn2538Ser)
c.5219A>G (p.Asn1740Ser)
c.7832A>G (p.Asn2611Ser)
c.5642A>G (p.Asn1881Ser)
c.5318A>G (p.Asn1773Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503628A>TCA382806808KMT2Ac.7835A>T (p.Asn2612Ile)
c.7826A>T (p.Asn2609Ile)
c.1775A>T (p.Asn592Ile)
c.2033A>T (p.Asn678Ile)
c.7808A>T (p.Asn2603Ile)
c.7727A>T (p.Asn2576Ile)
n.7078A>T
c.7736A>T (p.Asn2579Ile)
c.7613A>T (p.Asn2538Ile)
c.5219A>T (p.Asn1740Ile)
c.7832A>T (p.Asn2611Ile)
c.5642A>T (p.Asn1881Ile)
c.5318A>T (p.Asn1773Ile)
11g.118503629T>ACA382806811KMT2Ac.7836T>A (p.Asn2612Lys)
c.7827T>A (p.Asn2609Lys)
c.1776T>A (p.Asn592Lys)
c.2034T>A (p.Asn678Lys)
c.7809T>A (p.Asn2603Lys)
c.7728T>A (p.Asn2576Lys)
n.7079T>A
c.7737T>A (p.Asn2579Lys)
c.7614T>A (p.Asn2538Lys)
c.5220T>A (p.Asn1740Lys)
c.7833T>A (p.Asn2611Lys)
c.5643T>A (p.Asn1881Lys)
c.5319T>A (p.Asn1773Lys)
 dbSNP
11g.118503629T>CCA477360135KMT2Ac.7836T>C (p.Asn2612=)
c.7827T>C (p.Asn2609=)
c.1776T>C (p.Asn592=)
c.2034T>C (p.Asn678=)
c.7809T>C (p.Asn2603=)
c.7728T>C (p.Asn2576=)
n.7079T>C
c.7737T>C (p.Asn2579=)
c.7614T>C (p.Asn2538=)
c.5220T>C (p.Asn1740=)
c.7833T>C (p.Asn2611=)
c.5643T>C (p.Asn1881=)
c.5319T>C (p.Asn1773=)
11g.118503629T>GCA382806814KMT2Ac.7836T>G (p.Asn2612Lys)
c.7827T>G (p.Asn2609Lys)
c.1776T>G (p.Asn592Lys)
c.2034T>G (p.Asn678Lys)
c.7809T>G (p.Asn2603Lys)
c.7728T>G (p.Asn2576Lys)
n.7079T>G
c.7737T>G (p.Asn2579Lys)
c.7614T>G (p.Asn2538Lys)
c.5220T>G (p.Asn1740Lys)
c.7833T>G (p.Asn2611Lys)
c.5643T>G (p.Asn1881Lys)
c.5319T>G (p.Asn1773Lys)
11g.118503630A>CCA382806822KMT2Ac.7837A>C (p.Asn2613His)
c.7828A>C (p.Asn2610His)
c.1777A>C (p.Asn593His)
c.2035A>C (p.Asn679His)
c.7810A>C (p.Asn2604His)
c.7729A>C (p.Asn2577His)
n.7080A>C
c.7738A>C (p.Asn2580His)
c.7615A>C (p.Asn2539His)
c.5221A>C (p.Asn1741His)
c.7834A>C (p.Asn2612His)
c.5644A>C (p.Asn1882His)
c.5320A>C (p.Asn1774His)
11g.118503630A>GCA382806817KMT2Ac.7837A>G (p.Asn2613Asp)
c.7828A>G (p.Asn2610Asp)
c.1777A>G (p.Asn593Asp)
c.2035A>G (p.Asn679Asp)
c.7810A>G (p.Asn2604Asp)
c.7729A>G (p.Asn2577Asp)
n.7080A>G
c.7738A>G (p.Asn2580Asp)
c.7615A>G (p.Asn2539Asp)
c.5221A>G (p.Asn1741Asp)
c.7834A>G (p.Asn2612Asp)
c.5644A>G (p.Asn1882Asp)
c.5320A>G (p.Asn1774Asp)
 gnomAD v4
11g.118503630A>TCA382806819KMT2Ac.7837A>T (p.Asn2613Tyr)
c.7828A>T (p.Asn2610Tyr)
c.1777A>T (p.Asn593Tyr)
c.2035A>T (p.Asn679Tyr)
c.7810A>T (p.Asn2604Tyr)
c.7729A>T (p.Asn2577Tyr)
n.7080A>T
c.7738A>T (p.Asn2580Tyr)
c.7615A>T (p.Asn2539Tyr)
c.5221A>T (p.Asn1741Tyr)
c.7834A>T (p.Asn2612Tyr)
c.5644A>T (p.Asn1882Tyr)
c.5320A>T (p.Asn1774Tyr)
11g.118503631A>CCA382806825KMT2Ac.7838A>C (p.Asn2613Thr)
c.7829A>C (p.Asn2610Thr)
c.1778A>C (p.Asn593Thr)
c.2036A>C (p.Asn679Thr)
c.7811A>C (p.Asn2604Thr)
c.7730A>C (p.Asn2577Thr)
n.7081A>C
c.7739A>C (p.Asn2580Thr)
c.7616A>C (p.Asn2539Thr)
c.5222A>C (p.Asn1741Thr)
c.7835A>C (p.Asn2612Thr)
c.5645A>C (p.Asn1882Thr)
c.5321A>C (p.Asn1774Thr)
11g.118503631A>GCA382806828KMT2Ac.7838A>G (p.Asn2613Ser)
c.7829A>G (p.Asn2610Ser)
c.1778A>G (p.Asn593Ser)
c.2036A>G (p.Asn679Ser)
c.7811A>G (p.Asn2604Ser)
c.7730A>G (p.Asn2577Ser)
n.7081A>G
c.7739A>G (p.Asn2580Ser)
c.7616A>G (p.Asn2539Ser)
c.5222A>G (p.Asn1741Ser)
c.7835A>G (p.Asn2612Ser)
c.5645A>G (p.Asn1882Ser)
c.5321A>G (p.Asn1774Ser)
11g.118503631A>TCA382806830KMT2Ac.7838A>T (p.Asn2613Ile)
c.7829A>T (p.Asn2610Ile)
c.1778A>T (p.Asn593Ile)
c.2036A>T (p.Asn679Ile)
c.7811A>T (p.Asn2604Ile)
c.7730A>T (p.Asn2577Ile)
n.7081A>T
c.7739A>T (p.Asn2580Ile)
c.7616A>T (p.Asn2539Ile)
c.5222A>T (p.Asn1741Ile)
c.7835A>T (p.Asn2612Ile)
c.5645A>T (p.Asn1882Ile)
c.5321A>T (p.Asn1774Ile)
11g.118503632T>ACA382806834KMT2Ac.7839T>A (p.Asn2613Lys)
c.7830T>A (p.Asn2610Lys)
c.1779T>A (p.Asn593Lys)
c.2037T>A (p.Asn679Lys)
c.7812T>A (p.Asn2604Lys)
c.7731T>A (p.Asn2577Lys)
n.7082T>A
c.7740T>A (p.Asn2580Lys)
c.7617T>A (p.Asn2539Lys)
c.5223T>A (p.Asn1741Lys)
c.7836T>A (p.Asn2612Lys)
c.5646T>A (p.Asn1882Lys)
c.5322T>A (p.Asn1774Lys)
11g.118503632T>CCA477360141KMT2Ac.7839T>C (p.Asn2613=)
c.7830T>C (p.Asn2610=)
c.1779T>C (p.Asn593=)
c.2037T>C (p.Asn679=)
c.7812T>C (p.Asn2604=)
c.7731T>C (p.Asn2577=)
n.7082T>C
c.7740T>C (p.Asn2580=)
c.7617T>C (p.Asn2539=)
c.5223T>C (p.Asn1741=)
c.7836T>C (p.Asn2612=)
c.5646T>C (p.Asn1882=)
c.5322T>C (p.Asn1774=)
 gnomAD v4
11g.118503632T>GCA382806836KMT2Ac.7839T>G (p.Asn2613Lys)
c.7830T>G (p.Asn2610Lys)
c.1779T>G (p.Asn593Lys)
c.2037T>G (p.Asn679Lys)
c.7812T>G (p.Asn2604Lys)
c.7731T>G (p.Asn2577Lys)
n.7082T>G
c.7740T>G (p.Asn2580Lys)
c.7617T>G (p.Asn2539Lys)
c.5223T>G (p.Asn1741Lys)
c.7836T>G (p.Asn2612Lys)
c.5646T>G (p.Asn1882Lys)
c.5322T>G (p.Asn1774Lys)
11g.118503633A=CA2003528117KMT2Ac.7840A= (p.Thr2614=)
c.7831A= (p.Thr2611=)
c.1780A= (p.Thr594=)
c.2038A= (p.Thr680=)
c.7813A= (p.Thr2605=)
c.7732A= (p.Thr2578=)
n.7083A=
c.7741A= (p.Thr2581=)
c.7618A= (p.Thr2540=)
c.5224A= (p.Thr1742=)
c.7837A= (p.Thr2613=)
c.5647A= (p.Thr1883=)
c.5323A= (p.Thr1775=)
11g.118503633A>CCA382806841KMT2Ac.7840A>C (p.Thr2614Pro)
c.7831A>C (p.Thr2611Pro)
c.1780A>C (p.Thr594Pro)
c.2038A>C (p.Thr680Pro)
c.7813A>C (p.Thr2605Pro)
c.7732A>C (p.Thr2578Pro)
n.7083A>C
c.7741A>C (p.Thr2581Pro)
c.7618A>C (p.Thr2540Pro)
c.5224A>C (p.Thr1742Pro)
c.7837A>C (p.Thr2613Pro)
c.5647A>C (p.Thr1883Pro)
c.5323A>C (p.Thr1775Pro)
11g.118503633A>GCA229527066KMT2Ac.7840A>G (p.Thr2614Ala)
c.7831A>G (p.Thr2611Ala)
c.1780A>G (p.Thr594Ala)
c.2038A>G (p.Thr680Ala)
c.7813A>G (p.Thr2605Ala)
c.7732A>G (p.Thr2578Ala)
n.7083A>G
c.7741A>G (p.Thr2581Ala)
c.7618A>G (p.Thr2540Ala)
c.5224A>G (p.Thr1742Ala)
c.7837A>G (p.Thr2613Ala)
c.5647A>G (p.Thr1883Ala)
c.5323A>G (p.Thr1775Ala)
 ClinVar dbSNP gnomAD v4
11g.118503633A>TCA382806845KMT2Ac.7840A>T (p.Thr2614Ser)
c.7831A>T (p.Thr2611Ser)
c.1780A>T (p.Thr594Ser)
c.2038A>T (p.Thr680Ser)
c.7813A>T (p.Thr2605Ser)
c.7732A>T (p.Thr2578Ser)
n.7083A>T
c.7741A>T (p.Thr2581Ser)
c.7618A>T (p.Thr2540Ser)
c.5224A>T (p.Thr1742Ser)
c.7837A>T (p.Thr2613Ser)
c.5647A>T (p.Thr1883Ser)
c.5323A>T (p.Thr1775Ser)
11g.118503634C>ACA382806848KMT2Ac.7841C>A (p.Thr2614Asn)
c.7832C>A (p.Thr2611Asn)
c.1781C>A (p.Thr594Asn)
c.2039C>A (p.Thr680Asn)
c.7814C>A (p.Thr2605Asn)
c.7733C>A (p.Thr2578Asn)
n.7084C>A
c.7742C>A (p.Thr2581Asn)
c.7619C>A (p.Thr2540Asn)
c.5225C>A (p.Thr1742Asn)
c.7838C>A (p.Thr2613Asn)
c.5648C>A (p.Thr1883Asn)
c.5324C>A (p.Thr1775Asn)
 dbSNP
11g.118503634C>GCA382806850KMT2Ac.7841C>G (p.Thr2614Ser)
c.7832C>G (p.Thr2611Ser)
c.1781C>G (p.Thr594Ser)
c.2039C>G (p.Thr680Ser)
c.7814C>G (p.Thr2605Ser)
c.7733C>G (p.Thr2578Ser)
n.7084C>G
c.7742C>G (p.Thr2581Ser)
c.7619C>G (p.Thr2540Ser)
c.5225C>G (p.Thr1742Ser)
c.7838C>G (p.Thr2613Ser)
c.5648C>G (p.Thr1883Ser)
c.5324C>G (p.Thr1775Ser)
11g.118503634C>TCA382806852KMT2Ac.7841C>T (p.Thr2614Ile)
c.7832C>T (p.Thr2611Ile)
c.1781C>T (p.Thr594Ile)
c.2039C>T (p.Thr680Ile)
c.7814C>T (p.Thr2605Ile)
c.7733C>T (p.Thr2578Ile)
n.7084C>T
c.7742C>T (p.Thr2581Ile)
c.7619C>T (p.Thr2540Ile)
c.5225C>T (p.Thr1742Ile)
c.7838C>T (p.Thr2613Ile)
c.5648C>T (p.Thr1883Ile)
c.5324C>T (p.Thr1775Ile)
11g.118503635C>ACA477360151KMT2Ac.7842C>A (p.Thr2614=)
c.7833C>A (p.Thr2611=)
c.1782C>A (p.Thr594=)
c.2040C>A (p.Thr680=)
c.7815C>A (p.Thr2605=)
c.7734C>A (p.Thr2578=)
n.7085C>A
c.7743C>A (p.Thr2581=)
c.7620C>A (p.Thr2540=)
c.5226C>A (p.Thr1742=)
c.7839C>A (p.Thr2613=)
c.5649C>A (p.Thr1883=)
c.5325C>A (p.Thr1775=)
11g.118503635C>GCA477360152KMT2Ac.7842C>G (p.Thr2614=)
c.7833C>G (p.Thr2611=)
c.1782C>G (p.Thr594=)
c.2040C>G (p.Thr680=)
c.7815C>G (p.Thr2605=)
c.7734C>G (p.Thr2578=)
n.7085C>G
c.7743C>G (p.Thr2581=)
c.7620C>G (p.Thr2540=)
c.5226C>G (p.Thr1742=)
c.7839C>G (p.Thr2613=)
c.5649C>G (p.Thr1883=)
c.5325C>G (p.Thr1775=)
 gnomAD v4
11g.118503635C>TCA477360157KMT2Ac.7842C>T (p.Thr2614=)
c.7833C>T (p.Thr2611=)
c.1782C>T (p.Thr594=)
c.2040C>T (p.Thr680=)
c.7815C>T (p.Thr2605=)
c.7734C>T (p.Thr2578=)
n.7085C>T
c.7743C>T (p.Thr2581=)
c.7620C>T (p.Thr2540=)
c.5226C>T (p.Thr1742=)
c.7839C>T (p.Thr2613=)
c.5649C>T (p.Thr1883=)
c.5325C>T (p.Thr1775=)
 dbSNP
11g.118503636T>ACA382806860KMT2Ac.7843T>A (p.Ser2615Thr)
c.7834T>A (p.Ser2612Thr)
c.1783T>A (p.Ser595Thr)
c.2041T>A (p.Ser681Thr)
c.7816T>A (p.Ser2606Thr)
c.7735T>A (p.Ser2579Thr)
n.7086T>A
c.7744T>A (p.Ser2582Thr)
c.7621T>A (p.Ser2541Thr)
c.5227T>A (p.Ser1743Thr)
c.7840T>A (p.Ser2614Thr)
c.5650T>A (p.Ser1884Thr)
c.5326T>A (p.Ser1776Thr)
11g.118503636T>CCA382806858KMT2Ac.7843T>C (p.Ser2615Pro)
c.7834T>C (p.Ser2612Pro)
c.1783T>C (p.Ser595Pro)
c.2041T>C (p.Ser681Pro)
c.7816T>C (p.Ser2606Pro)
c.7735T>C (p.Ser2579Pro)
n.7086T>C
c.7744T>C (p.Ser2582Pro)
c.7621T>C (p.Ser2541Pro)
c.5227T>C (p.Ser1743Pro)
c.7840T>C (p.Ser2614Pro)
c.5650T>C (p.Ser1884Pro)
c.5326T>C (p.Ser1776Pro)
11g.118503636T>GCA382806855KMT2Ac.7843T>G (p.Ser2615Ala)
c.7834T>G (p.Ser2612Ala)
c.1783T>G (p.Ser595Ala)
c.2041T>G (p.Ser681Ala)
c.7816T>G (p.Ser2606Ala)
c.7735T>G (p.Ser2579Ala)
n.7086T>G
c.7744T>G (p.Ser2582Ala)
c.7621T>G (p.Ser2541Ala)
c.5227T>G (p.Ser1743Ala)
c.7840T>G (p.Ser2614Ala)
c.5650T>G (p.Ser1884Ala)
c.5326T>G (p.Ser1776Ala)
 gnomAD v4
11g.118503637C>ACA382806863KMT2Ac.7844C>A (p.Ser2615Ter)
c.7835C>A (p.Ser2612Ter)
c.1784C>A (p.Ser595Ter)
c.2042C>A (p.Ser681Ter)
c.7817C>A (p.Ser2606Ter)
c.7736C>A (p.Ser2579Ter)
n.7087C>A
c.7745C>A (p.Ser2582Ter)
c.7622C>A (p.Ser2541Ter)
c.5228C>A (p.Ser1743Ter)
c.7841C>A (p.Ser2614Ter)
c.5651C>A (p.Ser1884Ter)
c.5327C>A (p.Ser1776Ter)
11g.118503637C>GCA382806868KMT2Ac.7844C>G (p.Ser2615Ter)
c.7835C>G (p.Ser2612Ter)
c.1784C>G (p.Ser595Ter)
c.2042C>G (p.Ser681Ter)
c.7817C>G (p.Ser2606Ter)
c.7736C>G (p.Ser2579Ter)
n.7087C>G
c.7745C>G (p.Ser2582Ter)
c.7622C>G (p.Ser2541Ter)
c.5228C>G (p.Ser1743Ter)
c.7841C>G (p.Ser2614Ter)
c.5651C>G (p.Ser1884Ter)
c.5327C>G (p.Ser1776Ter)
11g.118503637C>TCA382806866KMT2Ac.7844C>T (p.Ser2615Leu)
c.7835C>T (p.Ser2612Leu)
c.1784C>T (p.Ser595Leu)
c.2042C>T (p.Ser681Leu)
c.7817C>T (p.Ser2606Leu)
c.7736C>T (p.Ser2579Leu)
n.7087C>T
c.7745C>T (p.Ser2582Leu)
c.7622C>T (p.Ser2541Leu)
c.5228C>T (p.Ser1743Leu)
c.7841C>T (p.Ser2614Leu)
c.5651C>T (p.Ser1884Leu)
c.5327C>T (p.Ser1776Leu)
11g.118503638A=CA2003528120KMT2Ac.7845A= (p.Ser2615=)
c.7836A= (p.Ser2612=)
c.1785A= (p.Ser595=)
c.2043A= (p.Ser681=)
c.7818A= (p.Ser2606=)
c.7737A= (p.Ser2579=)
n.7088A=
c.7746A= (p.Ser2582=)
c.7623A= (p.Ser2541=)
c.5229A= (p.Ser1743=)
c.7842A= (p.Ser2614=)
c.5652A= (p.Ser1884=)
c.5328A= (p.Ser1776=)
11g.118503638A>CCA477360159KMT2Ac.7845A>C (p.Ser2615=)
c.7836A>C (p.Ser2612=)
c.1785A>C (p.Ser595=)
c.2043A>C (p.Ser681=)
c.7818A>C (p.Ser2606=)
c.7737A>C (p.Ser2579=)
n.7088A>C
c.7746A>C (p.Ser2582=)
c.7623A>C (p.Ser2541=)
c.5229A>C (p.Ser1743=)
c.7842A>C (p.Ser2614=)
c.5652A>C (p.Ser1884=)
c.5328A>C (p.Ser1776=)
 gnomAD v4
11g.118503638A>GCA477360160KMT2Ac.7845A>G (p.Ser2615=)
c.7836A>G (p.Ser2612=)
c.1785A>G (p.Ser595=)
c.2043A>G (p.Ser681=)
c.7818A>G (p.Ser2606=)
c.7737A>G (p.Ser2579=)
n.7088A>G
c.7746A>G (p.Ser2582=)
c.7623A>G (p.Ser2541=)
c.5229A>G (p.Ser1743=)
c.7842A>G (p.Ser2614=)
c.5652A>G (p.Ser1884=)
c.5328A>G (p.Ser1776=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503638A>TCA477360162KMT2Ac.7845A>T (p.Ser2615=)
c.7836A>T (p.Ser2612=)
c.1785A>T (p.Ser595=)
c.2043A>T (p.Ser681=)
c.7818A>T (p.Ser2606=)
c.7737A>T (p.Ser2579=)
n.7088A>T
c.7746A>T (p.Ser2582=)
c.7623A>T (p.Ser2541=)
c.5229A>T (p.Ser1743=)
c.7842A>T (p.Ser2614=)
c.5652A>T (p.Ser1884=)
c.5328A>T (p.Ser1776=)
11g.118503639T>ACA382806870KMT2Ac.7846T>A (p.Cys2616Ser)
c.7837T>A (p.Cys2613Ser)
c.1786T>A (p.Cys596Ser)
c.2044T>A (p.Cys682Ser)
c.7819T>A (p.Cys2607Ser)
c.7738T>A (p.Cys2580Ser)
n.7089T>A
c.7747T>A (p.Cys2583Ser)
c.7624T>A (p.Cys2542Ser)
c.5230T>A (p.Cys1744Ser)
c.7843T>A (p.Cys2615Ser)
c.5653T>A (p.Cys1885Ser)
c.5329T>A (p.Cys1777Ser)
 gnomAD v4
11g.118503639T>CCA382806875KMT2Ac.7846T>C (p.Cys2616Arg)
c.7837T>C (p.Cys2613Arg)
c.1786T>C (p.Cys596Arg)
c.2044T>C (p.Cys682Arg)
c.7819T>C (p.Cys2607Arg)
c.7738T>C (p.Cys2580Arg)
n.7089T>C
c.7747T>C (p.Cys2583Arg)
c.7624T>C (p.Cys2542Arg)
c.5230T>C (p.Cys1744Arg)
c.7843T>C (p.Cys2615Arg)
c.5653T>C (p.Cys1885Arg)
c.5329T>C (p.Cys1777Arg)
11g.118503639T>GCA382806872KMT2Ac.7846T>G (p.Cys2616Gly)
c.7837T>G (p.Cys2613Gly)
c.1786T>G (p.Cys596Gly)
c.2044T>G (p.Cys682Gly)
c.7819T>G (p.Cys2607Gly)
c.7738T>G (p.Cys2580Gly)
n.7089T>G
c.7747T>G (p.Cys2583Gly)
c.7624T>G (p.Cys2542Gly)
c.5230T>G (p.Cys1744Gly)
c.7843T>G (p.Cys2615Gly)
c.5653T>G (p.Cys1885Gly)
c.5329T>G (p.Cys1777Gly)
11g.118503640G>ACA382806878KMT2Ac.7847G>A (p.Cys2616Tyr)
c.7838G>A (p.Cys2613Tyr)
c.1787G>A (p.Cys596Tyr)
c.2045G>A (p.Cys682Tyr)
c.7820G>A (p.Cys2607Tyr)
c.7739G>A (p.Cys2580Tyr)
n.7090G>A
c.7748G>A (p.Cys2583Tyr)
c.7625G>A (p.Cys2542Tyr)
c.5231G>A (p.Cys1744Tyr)
c.7844G>A (p.Cys2615Tyr)
c.5654G>A (p.Cys1885Tyr)
c.5330G>A (p.Cys1777Tyr)
11g.118503640G>CCA382806884KMT2Ac.7847G>C (p.Cys2616Ser)
c.7838G>C (p.Cys2613Ser)
c.1787G>C (p.Cys596Ser)
c.2045G>C (p.Cys682Ser)
c.7820G>C (p.Cys2607Ser)
c.7739G>C (p.Cys2580Ser)
n.7090G>C
c.7748G>C (p.Cys2583Ser)
c.7625G>C (p.Cys2542Ser)
c.5231G>C (p.Cys1744Ser)
c.7844G>C (p.Cys2615Ser)
c.5654G>C (p.Cys1885Ser)
c.5330G>C (p.Cys1777Ser)
11g.118503640G>TCA382806881KMT2Ac.7847G>T (p.Cys2616Phe)
c.7838G>T (p.Cys2613Phe)
c.1787G>T (p.Cys596Phe)
c.2045G>T (p.Cys682Phe)
c.7820G>T (p.Cys2607Phe)
c.7739G>T (p.Cys2580Phe)
n.7090G>T
c.7748G>T (p.Cys2583Phe)
c.7625G>T (p.Cys2542Phe)
c.5231G>T (p.Cys1744Phe)
c.7844G>T (p.Cys2615Phe)
c.5654G>T (p.Cys1885Phe)
c.5330G>T (p.Cys1777Phe)
 gnomAD v4
11g.118503641C>ACA382806888KMT2Ac.7848C>A (p.Cys2616Ter)
c.7839C>A (p.Cys2613Ter)
c.1788C>A (p.Cys596Ter)
c.2046C>A (p.Cys682Ter)
c.7821C>A (p.Cys2607Ter)
c.7740C>A (p.Cys2580Ter)
n.7091C>A
c.7749C>A (p.Cys2583Ter)
c.7626C>A (p.Cys2542Ter)
c.5232C>A (p.Cys1744Ter)
c.7845C>A (p.Cys2615Ter)
c.5655C>A (p.Cys1885Ter)
c.5331C>A (p.Cys1777Ter)
 dbSNP
11g.118503641C>GCA382806889KMT2Ac.7848C>G (p.Cys2616Trp)
c.7839C>G (p.Cys2613Trp)
c.1788C>G (p.Cys596Trp)
c.2046C>G (p.Cys682Trp)
c.7821C>G (p.Cys2607Trp)
c.7740C>G (p.Cys2580Trp)
n.7091C>G
c.7749C>G (p.Cys2583Trp)
c.7626C>G (p.Cys2542Trp)
c.5232C>G (p.Cys1744Trp)
c.7845C>G (p.Cys2615Trp)
c.5655C>G (p.Cys1885Trp)
c.5331C>G (p.Cys1777Trp)
11g.118503641C>TCA477360170KMT2Ac.7848C>T (p.Cys2616=)
c.7839C>T (p.Cys2613=)
c.1788C>T (p.Cys596=)
c.2046C>T (p.Cys682=)
c.7821C>T (p.Cys2607=)
c.7740C>T (p.Cys2580=)
n.7091C>T
c.7749C>T (p.Cys2583=)
c.7626C>T (p.Cys2542=)
c.5232C>T (p.Cys1744=)
c.7845C>T (p.Cys2615=)
c.5655C>T (p.Cys1885=)
c.5331C>T (p.Cys1777=)
11g.118503642C>ACA382806893KMT2Ac.7849C>A (p.Gln2617Lys)
c.7840C>A (p.Gln2614Lys)
c.1789C>A (p.Gln597Lys)
c.2047C>A (p.Gln683Lys)
c.7822C>A (p.Gln2608Lys)
c.7741C>A (p.Gln2581Lys)
n.7092C>A
c.7750C>A (p.Gln2584Lys)
c.7627C>A (p.Gln2543Lys)
c.5233C>A (p.Gln1745Lys)
c.7846C>A (p.Gln2616Lys)
c.5656C>A (p.Gln1886Lys)
c.5332C>A (p.Gln1778Lys)
 dbSNP
11g.118503642C>GCA382806896KMT2Ac.7849C>G (p.Gln2617Glu)
c.7840C>G (p.Gln2614Glu)
c.1789C>G (p.Gln597Glu)
c.2047C>G (p.Gln683Glu)
c.7822C>G (p.Gln2608Glu)
c.7741C>G (p.Gln2581Glu)
n.7092C>G
c.7750C>G (p.Gln2584Glu)
c.7627C>G (p.Gln2543Glu)
c.5233C>G (p.Gln1745Glu)
c.7846C>G (p.Gln2616Glu)
c.5656C>G (p.Gln1886Glu)
c.5332C>G (p.Gln1778Glu)
11g.118503642C>TCA382806899KMT2Ac.7849C>T (p.Gln2617Ter)
c.7840C>T (p.Gln2614Ter)
c.1789C>T (p.Gln597Ter)
c.2047C>T (p.Gln683Ter)
c.7822C>T (p.Gln2608Ter)
c.7741C>T (p.Gln2581Ter)
n.7092C>T
c.7750C>T (p.Gln2584Ter)
c.7627C>T (p.Gln2543Ter)
c.5233C>T (p.Gln1745Ter)
c.7846C>T (p.Gln2616Ter)
c.5656C>T (p.Gln1886Ter)
c.5332C>T (p.Gln1778Ter)
11g.118503643A=CA2003528125KMT2Ac.7850A= (p.Gln2617=)
c.7841A= (p.Gln2614=)
c.1790A= (p.Gln597=)
c.2048A= (p.Gln683=)
c.7823A= (p.Gln2608=)
c.7742A= (p.Gln2581=)
n.7093A=
c.7751A= (p.Gln2584=)
c.7628A= (p.Gln2543=)
c.5234A= (p.Gln1745=)
c.7847A= (p.Gln2616=)
c.5657A= (p.Gln1886=)
c.5333A= (p.Gln1778=)
11g.118503643A>CCA382806903KMT2Ac.7850A>C (p.Gln2617Pro)
c.7841A>C (p.Gln2614Pro)
c.1790A>C (p.Gln597Pro)
c.2048A>C (p.Gln683Pro)
c.7823A>C (p.Gln2608Pro)
c.7742A>C (p.Gln2581Pro)
n.7093A>C
c.7751A>C (p.Gln2584Pro)
c.7628A>C (p.Gln2543Pro)
c.5234A>C (p.Gln1745Pro)
c.7847A>C (p.Gln2616Pro)
c.5657A>C (p.Gln1886Pro)
c.5333A>C (p.Gln1778Pro)
 dbSNP
11g.118503643A>GCA382806906KMT2Ac.7850A>G (p.Gln2617Arg)
c.7841A>G (p.Gln2614Arg)
c.1790A>G (p.Gln597Arg)
c.2048A>G (p.Gln683Arg)
c.7823A>G (p.Gln2608Arg)
c.7742A>G (p.Gln2581Arg)
n.7093A>G
c.7751A>G (p.Gln2584Arg)
c.7628A>G (p.Gln2543Arg)
c.5234A>G (p.Gln1745Arg)
c.7847A>G (p.Gln2616Arg)
c.5657A>G (p.Gln1886Arg)
c.5333A>G (p.Gln1778Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.118503643A>TCA382806908KMT2Ac.7850A>T (p.Gln2617Leu)
c.7841A>T (p.Gln2614Leu)
c.1790A>T (p.Gln597Leu)
c.2048A>T (p.Gln683Leu)
c.7823A>T (p.Gln2608Leu)
c.7742A>T (p.Gln2581Leu)
n.7093A>T
c.7751A>T (p.Gln2584Leu)
c.7628A>T (p.Gln2543Leu)
c.5234A>T (p.Gln1745Leu)
c.7847A>T (p.Gln2616Leu)
c.5657A>T (p.Gln1886Leu)
c.5333A>T (p.Gln1778Leu)
11g.118503644G>ACA477360176KMT2Ac.7851G>A (p.Gln2617=)
c.7842G>A (p.Gln2614=)
c.1791G>A (p.Gln597=)
c.2049G>A (p.Gln683=)
c.7824G>A (p.Gln2608=)
c.7743G>A (p.Gln2581=)
n.7094G>A
c.7752G>A (p.Gln2584=)
c.7629G>A (p.Gln2543=)
c.5235G>A (p.Gln1745=)
c.7848G>A (p.Gln2616=)
c.5658G>A (p.Gln1886=)
c.5334G>A (p.Gln1778=)
11g.118503644G>CCA382806911KMT2Ac.7851G>C (p.Gln2617His)
c.7842G>C (p.Gln2614His)
c.1791G>C (p.Gln597His)
c.2049G>C (p.Gln683His)
c.7824G>C (p.Gln2608His)
c.7743G>C (p.Gln2581His)
n.7094G>C
c.7752G>C (p.Gln2584His)
c.7629G>C (p.Gln2543His)
c.5235G>C (p.Gln1745His)
c.7848G>C (p.Gln2616His)
c.5658G>C (p.Gln1886His)
c.5334G>C (p.Gln1778His)
 COSMIC COSMIC
11g.118503644G>TCA382806912KMT2Ac.7851G>T (p.Gln2617His)
c.7842G>T (p.Gln2614His)
c.1791G>T (p.Gln597His)
c.2049G>T (p.Gln683His)
c.7824G>T (p.Gln2608His)
c.7743G>T (p.Gln2581His)
n.7094G>T
c.7752G>T (p.Gln2584His)
c.7629G>T (p.Gln2543His)
c.5235G>T (p.Gln1745His)
c.7848G>T (p.Gln2616His)
c.5658G>T (p.Gln1886His)
c.5334G>T (p.Gln1778His)
11g.118503645delCA1139771246KMT2Ac.7852del (p.Asp2618IlefsTer17)
c.7843del (p.Asp2615IlefsTer17)
c.1792del (p.Asp598IlefsTer17)
c.2050del (p.Asp684IlefsTer17)
c.7825del (p.Asp2609IlefsTer17)
c.7744del (p.Asp2582IlefsTer17)
n.7095del
c.7753del (p.Asp2585IlefsTer17)
c.7630del (p.Asp2544IlefsTer17)
c.5236del (p.Asp1746IlefsTer17)
c.7849del (p.Asp2617IlefsTer17)
c.5659del (p.Asp1887IlefsTer17)
c.5335del (p.Asp1779IlefsTer17)
 ClinVar
11g.118503645G>ACA382806922KMT2Ac.7852G>A (p.Asp2618Asn)
c.7843G>A (p.Asp2615Asn)
c.1792G>A (p.Asp598Asn)
c.2050G>A (p.Asp684Asn)
c.7825G>A (p.Asp2609Asn)
c.7744G>A (p.Asp2582Asn)
n.7095G>A
c.7753G>A (p.Asp2585Asn)
c.7630G>A (p.Asp2544Asn)
c.5236G>A (p.Asp1746Asn)
c.7849G>A (p.Asp2617Asn)
c.5659G>A (p.Asp1887Asn)
c.5335G>A (p.Asp1779Asn)
11g.118503645G>CCA382806920KMT2Ac.7852G>C (p.Asp2618His)
c.7843G>C (p.Asp2615His)
c.1792G>C (p.Asp598His)
c.2050G>C (p.Asp684His)
c.7825G>C (p.Asp2609His)
c.7744G>C (p.Asp2582His)
n.7095G>C
c.7753G>C (p.Asp2585His)
c.7630G>C (p.Asp2544His)
c.5236G>C (p.Asp1746His)
c.7849G>C (p.Asp2617His)
c.5659G>C (p.Asp1887His)
c.5335G>C (p.Asp1779His)
 ClinVar gnomAD v4
11g.118503645G>TCA382806917KMT2Ac.7852G>T (p.Asp2618Tyr)
c.7843G>T (p.Asp2615Tyr)
c.1792G>T (p.Asp598Tyr)
c.2050G>T (p.Asp684Tyr)
c.7825G>T (p.Asp2609Tyr)
c.7744G>T (p.Asp2582Tyr)
n.7095G>T
c.7753G>T (p.Asp2585Tyr)
c.7630G>T (p.Asp2544Tyr)
c.5236G>T (p.Asp1746Tyr)
c.7849G>T (p.Asp2617Tyr)
c.5659G>T (p.Asp1887Tyr)
c.5335G>T (p.Asp1779Tyr)
11g.118503646A>CCA382806925KMT2Ac.7853A>C (p.Asp2618Ala)
c.7844A>C (p.Asp2615Ala)
c.1793A>C (p.Asp598Ala)
c.2051A>C (p.Asp684Ala)
c.7826A>C (p.Asp2609Ala)
c.7745A>C (p.Asp2582Ala)
n.7096A>C
c.7754A>C (p.Asp2585Ala)
c.7631A>C (p.Asp2544Ala)
c.5237A>C (p.Asp1746Ala)
c.7850A>C (p.Asp2617Ala)
c.5660A>C (p.Asp1887Ala)
c.5336A>C (p.Asp1779Ala)
11g.118503646A>GCA382806927KMT2Ac.7853A>G (p.Asp2618Gly)
c.7844A>G (p.Asp2615Gly)
c.1793A>G (p.Asp598Gly)
c.2051A>G (p.Asp684Gly)
c.7826A>G (p.Asp2609Gly)
c.7745A>G (p.Asp2582Gly)
n.7096A>G
c.7754A>G (p.Asp2585Gly)
c.7631A>G (p.Asp2544Gly)
c.5237A>G (p.Asp1746Gly)
c.7850A>G (p.Asp2617Gly)
c.5660A>G (p.Asp1887Gly)
c.5336A>G (p.Asp1779Gly)
11g.118503646A>TCA382806929KMT2Ac.7853A>T (p.Asp2618Val)
c.7844A>T (p.Asp2615Val)
c.1793A>T (p.Asp598Val)
c.2051A>T (p.Asp684Val)
c.7826A>T (p.Asp2609Val)
c.7745A>T (p.Asp2582Val)
n.7096A>T
c.7754A>T (p.Asp2585Val)
c.7631A>T (p.Asp2544Val)
c.5237A>T (p.Asp1746Val)
c.7850A>T (p.Asp2617Val)
c.5660A>T (p.Asp1887Val)
c.5336A>T (p.Asp1779Val)
11g.118503647T>ACA382806932KMT2Ac.7854T>A (p.Asp2618Glu)
c.7845T>A (p.Asp2615Glu)
c.1794T>A (p.Asp598Glu)
c.2052T>A (p.Asp684Glu)
c.7827T>A (p.Asp2609Glu)
c.7746T>A (p.Asp2582Glu)
n.7097T>A
c.7755T>A (p.Asp2585Glu)
c.7632T>A (p.Asp2544Glu)
c.5238T>A (p.Asp1746Glu)
c.7851T>A (p.Asp2617Glu)
c.5661T>A (p.Asp1887Glu)
c.5337T>A (p.Asp1779Glu)
11g.118503647T>CCA477360185KMT2Ac.7854T>C (p.Asp2618=)
c.7845T>C (p.Asp2615=)
c.1794T>C (p.Asp598=)
c.2052T>C (p.Asp684=)
c.7827T>C (p.Asp2609=)
c.7746T>C (p.Asp2582=)
n.7097T>C
c.7755T>C (p.Asp2585=)
c.7632T>C (p.Asp2544=)
c.5238T>C (p.Asp1746=)
c.7851T>C (p.Asp2617=)
c.5661T>C (p.Asp1887=)
c.5337T>C (p.Asp1779=)
11g.118503647T>GCA382806933KMT2Ac.7854T>G (p.Asp2618Glu)
c.7845T>G (p.Asp2615Glu)
c.1794T>G (p.Asp598Glu)
c.2052T>G (p.Asp684Glu)
c.7827T>G (p.Asp2609Glu)
c.7746T>G (p.Asp2582Glu)
n.7097T>G
c.7755T>G (p.Asp2585Glu)
c.7632T>G (p.Asp2544Glu)
c.5238T>G (p.Asp1746Glu)
c.7851T>G (p.Asp2617Glu)
c.5661T>G (p.Asp1887Glu)
c.5337T>G (p.Asp1779Glu)
11g.118503648T>ACA382806936KMT2Ac.7855T>A (p.Ser2619Thr)
c.7846T>A (p.Ser2616Thr)
c.1795T>A (p.Ser599Thr)
c.2053T>A (p.Ser685Thr)
c.7828T>A (p.Ser2610Thr)
c.7747T>A (p.Ser2583Thr)
n.7098T>A
c.7756T>A (p.Ser2586Thr)
c.7633T>A (p.Ser2545Thr)
c.5239T>A (p.Ser1747Thr)
c.7852T>A (p.Ser2618Thr)
c.5662T>A (p.Ser1888Thr)
c.5338T>A (p.Ser1780Thr)
11g.118503648T>CCA382806938KMT2Ac.7855T>C (p.Ser2619Pro)
c.7846T>C (p.Ser2616Pro)
c.1795T>C (p.Ser599Pro)
c.2053T>C (p.Ser685Pro)
c.7828T>C (p.Ser2610Pro)
c.7747T>C (p.Ser2583Pro)
n.7098T>C
c.7756T>C (p.Ser2586Pro)
c.7633T>C (p.Ser2545Pro)
c.5239T>C (p.Ser1747Pro)
c.7852T>C (p.Ser2618Pro)
c.5662T>C (p.Ser1888Pro)
c.5338T>C (p.Ser1780Pro)
11g.118503648T>GCA382806941KMT2Ac.7855T>G (p.Ser2619Ala)
c.7846T>G (p.Ser2616Ala)
c.1795T>G (p.Ser599Ala)
c.2053T>G (p.Ser685Ala)
c.7828T>G (p.Ser2610Ala)
c.7747T>G (p.Ser2583Ala)
n.7098T>G
c.7756T>G (p.Ser2586Ala)
c.7633T>G (p.Ser2545Ala)
c.5239T>G (p.Ser1747Ala)
c.7852T>G (p.Ser2618Ala)
c.5662T>G (p.Ser1888Ala)
c.5338T>G (p.Ser1780Ala)
11g.118503649C>ACA382806944KMT2Ac.7856C>A (p.Ser2619Tyr)
c.7847C>A (p.Ser2616Tyr)
c.1796C>A (p.Ser599Tyr)
c.2054C>A (p.Ser685Tyr)
c.7829C>A (p.Ser2610Tyr)
c.7748C>A (p.Ser2583Tyr)
n.7099C>A
c.7757C>A (p.Ser2586Tyr)
c.7634C>A (p.Ser2545Tyr)
c.5240C>A (p.Ser1747Tyr)
c.7853C>A (p.Ser2618Tyr)
c.5663C>A (p.Ser1888Tyr)
c.5339C>A (p.Ser1780Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.118503649C=CA2003528129KMT2Ac.7856C= (p.Ser2619=)
c.7847C= (p.Ser2616=)
c.1796C= (p.Ser599=)
c.2054C= (p.Ser685=)
c.7829C= (p.Ser2610=)
c.7748C= (p.Ser2583=)
n.7099C=
c.7757C= (p.Ser2586=)
c.7634C= (p.Ser2545=)
c.5240C= (p.Ser1747=)
c.7853C= (p.Ser2618=)
c.5663C= (p.Ser1888=)
c.5339C= (p.Ser1780=)
11g.118503649C>GCA382806947KMT2Ac.7856C>G (p.Ser2619Cys)
c.7847C>G (p.Ser2616Cys)
c.1796C>G (p.Ser599Cys)
c.2054C>G (p.Ser685Cys)
c.7829C>G (p.Ser2610Cys)
c.7748C>G (p.Ser2583Cys)
n.7099C>G
c.7757C>G (p.Ser2586Cys)
c.7634C>G (p.Ser2545Cys)
c.5240C>G (p.Ser1747Cys)
c.7853C>G (p.Ser2618Cys)
c.5663C>G (p.Ser1888Cys)
c.5339C>G (p.Ser1780Cys)
 dbSNP
11g.118503649C>TCA382806955KMT2Ac.7856C>T (p.Ser2619Phe)
c.7847C>T (p.Ser2616Phe)
c.1796C>T (p.Ser599Phe)
c.2054C>T (p.Ser685Phe)
c.7829C>T (p.Ser2610Phe)
c.7748C>T (p.Ser2583Phe)
n.7099C>T
c.7757C>T (p.Ser2586Phe)
c.7634C>T (p.Ser2545Phe)
c.5240C>T (p.Ser1747Phe)
c.7853C>T (p.Ser2618Phe)
c.5663C>T (p.Ser1888Phe)
c.5339C>T (p.Ser1780Phe)
 dbSNP gnomAD v4 COSMIC
11g.118503650T>ACA477360195KMT2Ac.7857T>A (p.Ser2619=)
c.7848T>A (p.Ser2616=)
c.1797T>A (p.Ser599=)
c.2055T>A (p.Ser685=)
c.7830T>A (p.Ser2610=)
c.7749T>A (p.Ser2583=)
n.7100T>A
c.7758T>A (p.Ser2586=)
c.7635T>A (p.Ser2545=)
c.5241T>A (p.Ser1747=)
c.7854T>A (p.Ser2618=)
c.5664T>A (p.Ser1888=)
c.5340T>A (p.Ser1780=)
 dbSNP
11g.118503650T>CCA477360193KMT2Ac.7857T>C (p.Ser2619=)
c.7848T>C (p.Ser2616=)
c.1797T>C (p.Ser599=)
c.2055T>C (p.Ser685=)
c.7830T>C (p.Ser2610=)
c.7749T>C (p.Ser2583=)
n.7100T>C
c.7758T>C (p.Ser2586=)
c.7635T>C (p.Ser2545=)
c.5241T>C (p.Ser1747=)
c.7854T>C (p.Ser2618=)
c.5664T>C (p.Ser1888=)
c.5340T>C (p.Ser1780=)
11g.118503650T>GCA477360191KMT2Ac.7857T>G (p.Ser2619=)
c.7848T>G (p.Ser2616=)
c.1797T>G (p.Ser599=)
c.2055T>G (p.Ser685=)
c.7830T>G (p.Ser2610=)
c.7749T>G (p.Ser2583=)
n.7100T>G
c.7758T>G (p.Ser2586=)
c.7635T>G (p.Ser2545=)
c.5241T>G (p.Ser1747=)
c.7854T>G (p.Ser2618=)
c.5664T>G (p.Ser1888=)
c.5340T>G (p.Ser1780=)
11g.118503651C>ACA382806966KMT2Ac.7858C>A (p.Gln2620Lys)
c.7849C>A (p.Gln2617Lys)
c.1798C>A (p.Gln600Lys)
c.2056C>A (p.Gln686Lys)
c.7831C>A (p.Gln2611Lys)
c.7750C>A (p.Gln2584Lys)
n.7101C>A
c.7759C>A (p.Gln2587Lys)
c.7636C>A (p.Gln2546Lys)
c.5242C>A (p.Gln1748Lys)
c.7855C>A (p.Gln2619Lys)
c.5665C>A (p.Gln1889Lys)
c.5341C>A (p.Gln1781Lys)
11g.118503651C>GCA382806963KMT2Ac.7858C>G (p.Gln2620Glu)
c.7849C>G (p.Gln2617Glu)
c.1798C>G (p.Gln600Glu)
c.2056C>G (p.Gln686Glu)
c.7831C>G (p.Gln2611Glu)
c.7750C>G (p.Gln2584Glu)
n.7101C>G
c.7759C>G (p.Gln2587Glu)
c.7636C>G (p.Gln2546Glu)
c.5242C>G (p.Gln1748Glu)
c.7855C>G (p.Gln2619Glu)
c.5665C>G (p.Gln1889Glu)
c.5341C>G (p.Gln1781Glu)
 dbSNP
11g.118503651C>TCA382806960KMT2Ac.7858C>T (p.Gln2620Ter)
c.7849C>T (p.Gln2617Ter)
c.1798C>T (p.Gln600Ter)
c.2056C>T (p.Gln686Ter)
c.7831C>T (p.Gln2611Ter)
c.7750C>T (p.Gln2584Ter)
n.7101C>T
c.7759C>T (p.Gln2587Ter)
c.7636C>T (p.Gln2546Ter)
c.5242C>T (p.Gln1748Ter)
c.7855C>T (p.Gln2619Ter)
c.5665C>T (p.Gln1889Ter)
c.5341C>T (p.Gln1781Ter)
11g.118503652A>CCA382806972KMT2Ac.7859A>C (p.Gln2620Pro)
c.7850A>C (p.Gln2617Pro)
c.1799A>C (p.Gln600Pro)
c.2057A>C (p.Gln686Pro)
c.7832A>C (p.Gln2611Pro)
c.7751A>C (p.Gln2584Pro)
n.7102A>C
c.7760A>C (p.Gln2587Pro)
c.7637A>C (p.Gln2546Pro)
c.5243A>C (p.Gln1748Pro)
c.7856A>C (p.Gln2619Pro)
c.5666A>C (p.Gln1889Pro)
c.5342A>C (p.Gln1781Pro)
11g.118503652A>GCA382806974KMT2Ac.7859A>G (p.Gln2620Arg)
c.7850A>G (p.Gln2617Arg)
c.1799A>G (p.Gln600Arg)
c.2057A>G (p.Gln686Arg)
c.7832A>G (p.Gln2611Arg)
c.7751A>G (p.Gln2584Arg)
n.7102A>G
c.7760A>G (p.Gln2587Arg)
c.7637A>G (p.Gln2546Arg)
c.5243A>G (p.Gln1748Arg)
c.7856A>G (p.Gln2619Arg)
c.5666A>G (p.Gln1889Arg)
c.5342A>G (p.Gln1781Arg)
11g.118503652A>TCA382806977KMT2Ac.7859A>T (p.Gln2620Leu)
c.7850A>T (p.Gln2617Leu)
c.1799A>T (p.Gln600Leu)
c.2057A>T (p.Gln686Leu)
c.7832A>T (p.Gln2611Leu)
c.7751A>T (p.Gln2584Leu)
n.7102A>T
c.7760A>T (p.Gln2587Leu)
c.7637A>T (p.Gln2546Leu)
c.5243A>T (p.Gln1748Leu)
c.7856A>T (p.Gln2619Leu)
c.5666A>T (p.Gln1889Leu)
c.5342A>T (p.Gln1781Leu)
11g.118503653A>CCA382806978KMT2Ac.7860A>C (p.Gln2620His)
c.7851A>C (p.Gln2617His)
c.1800A>C (p.Gln600His)
c.2058A>C (p.Gln686His)
c.7833A>C (p.Gln2611His)
c.7752A>C (p.Gln2584His)
n.7103A>C
c.7761A>C (p.Gln2587His)
c.7638A>C (p.Gln2546His)
c.5244A>C (p.Gln1748His)
c.7857A>C (p.Gln2619His)
c.5667A>C (p.Gln1889His)
c.5343A>C (p.Gln1781His)
11g.118503653A>GCA477360201KMT2Ac.7860A>G (p.Gln2620=)
c.7851A>G (p.Gln2617=)
c.1800A>G (p.Gln600=)
c.2058A>G (p.Gln686=)
c.7833A>G (p.Gln2611=)
c.7752A>G (p.Gln2584=)
n.7103A>G
c.7761A>G (p.Gln2587=)
c.7638A>G (p.Gln2546=)
c.5244A>G (p.Gln1748=)
c.7857A>G (p.Gln2619=)
c.5667A>G (p.Gln1889=)
c.5343A>G (p.Gln1781=)
 COSMIC COSMIC
11g.118503653A>TCA382806980KMT2Ac.7860A>T (p.Gln2620His)
c.7851A>T (p.Gln2617His)
c.1800A>T (p.Gln600His)
c.2058A>T (p.Gln686His)
c.7833A>T (p.Gln2611His)
c.7752A>T (p.Gln2584His)
n.7103A>T
c.7761A>T (p.Gln2587His)
c.7638A>T (p.Gln2546His)
c.5244A>T (p.Gln1748His)
c.7857A>T (p.Gln2619His)
c.5667A>T (p.Gln1889His)
c.5343A>T (p.Gln1781His)
 gnomAD v4
11g.118503654A>CCA382806984KMT2Ac.7861A>C (p.Ser2621Arg)
c.7852A>C (p.Ser2618Arg)
c.1801A>C (p.Ser601Arg)
c.2059A>C (p.Ser687Arg)
c.7834A>C (p.Ser2612Arg)
c.7753A>C (p.Ser2585Arg)
n.7104A>C
c.7762A>C (p.Ser2588Arg)
c.7639A>C (p.Ser2547Arg)
c.5245A>C (p.Ser1749Arg)
c.7858A>C (p.Ser2620Arg)
c.5668A>C (p.Ser1890Arg)
c.5344A>C (p.Ser1782Arg)
11g.118503654A>GCA382806986KMT2Ac.7861A>G (p.Ser2621Gly)
c.7852A>G (p.Ser2618Gly)
c.1801A>G (p.Ser601Gly)
c.2059A>G (p.Ser687Gly)
c.7834A>G (p.Ser2612Gly)
c.7753A>G (p.Ser2585Gly)
n.7104A>G
c.7762A>G (p.Ser2588Gly)
c.7639A>G (p.Ser2547Gly)
c.5245A>G (p.Ser1749Gly)
c.7858A>G (p.Ser2620Gly)
c.5668A>G (p.Ser1890Gly)
c.5344A>G (p.Ser1782Gly)
11g.118503654A>TCA382806988KMT2Ac.7861A>T (p.Ser2621Cys)
c.7852A>T (p.Ser2618Cys)
c.1801A>T (p.Ser601Cys)
c.2059A>T (p.Ser687Cys)
c.7834A>T (p.Ser2612Cys)
c.7753A>T (p.Ser2585Cys)
n.7104A>T
c.7762A>T (p.Ser2588Cys)
c.7639A>T (p.Ser2547Cys)
c.5245A>T (p.Ser1749Cys)
c.7858A>T (p.Ser2620Cys)
c.5668A>T (p.Ser1890Cys)
c.5344A>T (p.Ser1782Cys)
11g.118503655G>ACA382806991KMT2Ac.7862G>A (p.Ser2621Asn)
c.7853G>A (p.Ser2618Asn)
c.1802G>A (p.Ser601Asn)
c.2060G>A (p.Ser687Asn)
c.7835G>A (p.Ser2612Asn)
c.7754G>A (p.Ser2585Asn)
n.7105G>A
c.7763G>A (p.Ser2588Asn)
c.7640G>A (p.Ser2547Asn)
c.5246G>A (p.Ser1749Asn)
c.7859G>A (p.Ser2620Asn)
c.5669G>A (p.Ser1890Asn)
c.5345G>A (p.Ser1782Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.118503655G>CCA382806992KMT2Ac.7862G>C (p.Ser2621Thr)
c.7853G>C (p.Ser2618Thr)
c.1802G>C (p.Ser601Thr)
c.2060G>C (p.Ser687Thr)
c.7835G>C (p.Ser2612Thr)
c.7754G>C (p.Ser2585Thr)
n.7105G>C
c.7763G>C (p.Ser2588Thr)
c.7640G>C (p.Ser2547Thr)
c.5246G>C (p.Ser1749Thr)
c.7859G>C (p.Ser2620Thr)
c.5669G>C (p.Ser1890Thr)
c.5345G>C (p.Ser1782Thr)
 dbSNP
11g.118503655G=CA2003528135KMT2Ac.7862G= (p.Ser2621=)
c.7853G= (p.Ser2618=)
c.1802G= (p.Ser601=)
c.2060G= (p.Ser687=)
c.7835G= (p.Ser2612=)
c.7754G= (p.Ser2585=)
n.7105G=
c.7763G= (p.Ser2588=)
c.7640G= (p.Ser2547=)
c.5246G= (p.Ser1749=)
c.7859G= (p.Ser2620=)
c.5669G= (p.Ser1890=)
c.5345G= (p.Ser1782=)
11g.118503655G>TCA382806994KMT2Ac.7862G>T (p.Ser2621Ile)
c.7853G>T (p.Ser2618Ile)
c.1802G>T (p.Ser601Ile)
c.2060G>T (p.Ser687Ile)
c.7835G>T (p.Ser2612Ile)
c.7754G>T (p.Ser2585Ile)
n.7105G>T
c.7763G>T (p.Ser2588Ile)
c.7640G>T (p.Ser2547Ile)
c.5246G>T (p.Ser1749Ile)
c.7859G>T (p.Ser2620Ile)
c.5669G>T (p.Ser1890Ile)
c.5345G>T (p.Ser1782Ile)
11g.118503656T>ACA382806996KMT2Ac.7863T>A (p.Ser2621Arg)
c.7854T>A (p.Ser2618Arg)
c.1803T>A (p.Ser601Arg)
c.2061T>A (p.Ser687Arg)
c.7836T>A (p.Ser2612Arg)
c.7755T>A (p.Ser2585Arg)
n.7106T>A
c.7764T>A (p.Ser2588Arg)
c.7641T>A (p.Ser2547Arg)
c.5247T>A (p.Ser1749Arg)
c.7860T>A (p.Ser2620Arg)
c.5670T>A (p.Ser1890Arg)
c.5346T>A (p.Ser1782Arg)
 dbSNP
11g.118503656T>CCA477360211KMT2Ac.7863T>C (p.Ser2621=)
c.7854T>C (p.Ser2618=)
c.1803T>C (p.Ser601=)
c.2061T>C (p.Ser687=)
c.7836T>C (p.Ser2612=)
c.7755T>C (p.Ser2585=)
n.7106T>C
c.7764T>C (p.Ser2588=)
c.7641T>C (p.Ser2547=)
c.5247T>C (p.Ser1749=)
c.7860T>C (p.Ser2620=)
c.5670T>C (p.Ser1890=)
c.5346T>C (p.Ser1782=)
11g.118503656T>GCA382806998KMT2Ac.7863T>G (p.Ser2621Arg)
c.7854T>G (p.Ser2618Arg)
c.1803T>G (p.Ser601Arg)
c.2061T>G (p.Ser687Arg)
c.7836T>G (p.Ser2612Arg)
c.7755T>G (p.Ser2585Arg)
n.7106T>G
c.7764T>G (p.Ser2588Arg)
c.7641T>G (p.Ser2547Arg)
c.5247T>G (p.Ser1749Arg)
c.7860T>G (p.Ser2620Arg)
c.5670T>G (p.Ser1890Arg)
c.5346T>G (p.Ser1782Arg)

Number of alleles fetched