Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503459_118503462delCA236389KMT2Ac.7666_7669del (p.Val2556LysfsTer2)
c.7657_7660del (p.Val2553LysfsTer2)
c.1606_1609del (p.Val536LysfsTer2)
c.1864_1867del (p.Val622LysfsTer2)
c.7639_7642del (p.Val2547LysfsTer2)
c.7558_7561del (p.Val2520LysfsTer2)
n.6909_6912del
c.7567_7570del (p.Val2523LysfsTer2)
c.7444_7447del (p.Val2482LysfsTer2)
n.1694_1697del
c.5050_5053del (p.Val1684LysfsTer2)
c.7663_7666del (p.Val2555LysfsTer2)
c.5473_5476del (p.Val1825LysfsTer2)
c.5149_5152del (p.Val1717LysfsTer2)
ClinVar dbSNP
11g.118503462A>CCA382806037KMT2Ac.7669A>C (p.Lys2557Gln)
c.7660A>C (p.Lys2554Gln)
c.1609A>C (p.Lys537Gln)
c.1867A>C (p.Lys623Gln)
c.7642A>C (p.Lys2548Gln)
c.7561A>C (p.Lys2521Gln)
n.6912A>C
c.7570A>C (p.Lys2524Gln)
c.7447A>C (p.Lys2483Gln)
n.1697A>C
c.5053A>C (p.Lys1685Gln)
c.7666A>C (p.Lys2556Gln)
c.5476A>C (p.Lys1826Gln)
c.5152A>C (p.Lys1718Gln)
11g.118503462A>GCA382806035KMT2Ac.7669A>G (p.Lys2557Glu)
c.7660A>G (p.Lys2554Glu)
c.1609A>G (p.Lys537Glu)
c.1867A>G (p.Lys623Glu)
c.7642A>G (p.Lys2548Glu)
c.7561A>G (p.Lys2521Glu)
n.6912A>G
c.7570A>G (p.Lys2524Glu)
c.7447A>G (p.Lys2483Glu)
n.1697A>G
c.5053A>G (p.Lys1685Glu)
c.7666A>G (p.Lys2556Glu)
c.5476A>G (p.Lys1826Glu)
c.5152A>G (p.Lys1718Glu)
gnomAD v4
11g.118503462A>TCA382806036KMT2Ac.7669A>T (p.Lys2557Ter)
c.7660A>T (p.Lys2554Ter)
c.1609A>T (p.Lys537Ter)
c.1867A>T (p.Lys623Ter)
c.7642A>T (p.Lys2548Ter)
c.7561A>T (p.Lys2521Ter)
n.6912A>T
c.7570A>T (p.Lys2524Ter)
c.7447A>T (p.Lys2483Ter)
n.1697A>T
c.5053A>T (p.Lys1685Ter)
c.7666A>T (p.Lys2556Ter)
c.5476A>T (p.Lys1826Ter)
c.5152A>T (p.Lys1718Ter)
11g.118503463A>CCA382806038KMT2Ac.7670A>C (p.Lys2557Thr)
c.7661A>C (p.Lys2554Thr)
c.1610A>C (p.Lys537Thr)
c.1868A>C (p.Lys623Thr)
c.7643A>C (p.Lys2548Thr)
c.7562A>C (p.Lys2521Thr)
n.6913A>C
c.7571A>C (p.Lys2524Thr)
c.7448A>C (p.Lys2483Thr)
n.1698A>C
c.5054A>C (p.Lys1685Thr)
c.7667A>C (p.Lys2556Thr)
c.5477A>C (p.Lys1826Thr)
c.5153A>C (p.Lys1718Thr)
11g.118503463A>GCA382806039KMT2Ac.7670A>G (p.Lys2557Arg)
c.7661A>G (p.Lys2554Arg)
c.1610A>G (p.Lys537Arg)
c.1868A>G (p.Lys623Arg)
c.7643A>G (p.Lys2548Arg)
c.7562A>G (p.Lys2521Arg)
n.6913A>G
c.7571A>G (p.Lys2524Arg)
c.7448A>G (p.Lys2483Arg)
n.1698A>G
c.5054A>G (p.Lys1685Arg)
c.7667A>G (p.Lys2556Arg)
c.5477A>G (p.Lys1826Arg)
c.5153A>G (p.Lys1718Arg)
11g.118503463A>TCA382806040KMT2Ac.7670A>T (p.Lys2557Ile)
c.7661A>T (p.Lys2554Ile)
c.1610A>T (p.Lys537Ile)
c.1868A>T (p.Lys623Ile)
c.7643A>T (p.Lys2548Ile)
c.7562A>T (p.Lys2521Ile)
n.6913A>T
c.7571A>T (p.Lys2524Ile)
c.7448A>T (p.Lys2483Ile)
n.1698A>T
c.5054A>T (p.Lys1685Ile)
c.7667A>T (p.Lys2556Ile)
c.5477A>T (p.Lys1826Ile)
c.5153A>T (p.Lys1718Ile)
11g.118503464A>CCA382806041KMT2Ac.7671A>C (p.Lys2557Asn)
c.7662A>C (p.Lys2554Asn)
c.1611A>C (p.Lys537Asn)
c.1869A>C (p.Lys623Asn)
c.7644A>C (p.Lys2548Asn)
c.7563A>C (p.Lys2521Asn)
n.6914A>C
c.7572A>C (p.Lys2524Asn)
c.7449A>C (p.Lys2483Asn)
n.1699A>C
c.5055A>C (p.Lys1685Asn)
c.7668A>C (p.Lys2556Asn)
c.5478A>C (p.Lys1826Asn)
c.5154A>C (p.Lys1718Asn)
11g.118503464A>GCA477359727KMT2Ac.7671A>G (p.Lys2557=)
c.7662A>G (p.Lys2554=)
c.1611A>G (p.Lys537=)
c.1869A>G (p.Lys623=)
c.7644A>G (p.Lys2548=)
c.7563A>G (p.Lys2521=)
n.6914A>G
c.7572A>G (p.Lys2524=)
c.7449A>G (p.Lys2483=)
n.1699A>G
c.5055A>G (p.Lys1685=)
c.7668A>G (p.Lys2556=)
c.5478A>G (p.Lys1826=)
c.5154A>G (p.Lys1718=)
11g.118503464A>TCA382806042KMT2Ac.7671A>T (p.Lys2557Asn)
c.7662A>T (p.Lys2554Asn)
c.1611A>T (p.Lys537Asn)
c.1869A>T (p.Lys623Asn)
c.7644A>T (p.Lys2548Asn)
c.7563A>T (p.Lys2521Asn)
n.6914A>T
c.7572A>T (p.Lys2524Asn)
c.7449A>T (p.Lys2483Asn)
n.1699A>T
c.5055A>T (p.Lys1685Asn)
c.7668A>T (p.Lys2556Asn)
c.5478A>T (p.Lys1826Asn)
c.5154A>T (p.Lys1718Asn)
11g.118503465G>ACA382806043KMT2Ac.7672G>A (p.Val2558Met)
c.7663G>A (p.Val2555Met)
c.1612G>A (p.Val538Met)
c.1870G>A (p.Val624Met)
c.7645G>A (p.Val2549Met)
c.7564G>A (p.Val2522Met)
n.6915G>A
c.7573G>A (p.Val2525Met)
c.7450G>A (p.Val2484Met)
n.1700G>A
c.5056G>A (p.Val1686Met)
c.7669G>A (p.Val2557Met)
c.5479G>A (p.Val1827Met)
c.5155G>A (p.Val1719Met)
gnomAD v4 COSMIC COSMIC
11g.118503465G>CCA382806045KMT2Ac.7672G>C (p.Val2558Leu)
c.7663G>C (p.Val2555Leu)
c.1612G>C (p.Val538Leu)
c.1870G>C (p.Val624Leu)
c.7645G>C (p.Val2549Leu)
c.7564G>C (p.Val2522Leu)
n.6915G>C
c.7573G>C (p.Val2525Leu)
c.7450G>C (p.Val2484Leu)
n.1700G>C
c.5056G>C (p.Val1686Leu)
c.7669G>C (p.Val2557Leu)
c.5479G>C (p.Val1827Leu)
c.5155G>C (p.Val1719Leu)
gnomAD v4
11g.118503465G>TCA382806044KMT2Ac.7672G>T (p.Val2558Leu)
c.7663G>T (p.Val2555Leu)
c.1612G>T (p.Val538Leu)
c.1870G>T (p.Val624Leu)
c.7645G>T (p.Val2549Leu)
c.7564G>T (p.Val2522Leu)
n.6915G>T
c.7573G>T (p.Val2525Leu)
c.7450G>T (p.Val2484Leu)
n.1700G>T
c.5056G>T (p.Val1686Leu)
c.7669G>T (p.Val2557Leu)
c.5479G>T (p.Val1827Leu)
c.5155G>T (p.Val1719Leu)
11g.118503466T>ACA382806046KMT2Ac.7673T>A (p.Val2558Glu)
c.7664T>A (p.Val2555Glu)
c.1613T>A (p.Val538Glu)
c.1871T>A (p.Val624Glu)
c.7646T>A (p.Val2549Glu)
c.7565T>A (p.Val2522Glu)
n.6916T>A
c.7574T>A (p.Val2525Glu)
c.7451T>A (p.Val2484Glu)
n.1701T>A
c.5057T>A (p.Val1686Glu)
c.7670T>A (p.Val2557Glu)
c.5480T>A (p.Val1827Glu)
c.5156T>A (p.Val1719Glu)
11g.118503466T>CCA382806048KMT2Ac.7673T>C (p.Val2558Ala)
c.7664T>C (p.Val2555Ala)
c.1613T>C (p.Val538Ala)
c.1871T>C (p.Val624Ala)
c.7646T>C (p.Val2549Ala)
c.7565T>C (p.Val2522Ala)
n.6916T>C
c.7574T>C (p.Val2525Ala)
c.7451T>C (p.Val2484Ala)
n.1701T>C
c.5057T>C (p.Val1686Ala)
c.7670T>C (p.Val2557Ala)
c.5480T>C (p.Val1827Ala)
c.5156T>C (p.Val1719Ala)
11g.118503466T>GCA382806049KMT2Ac.7673T>G (p.Val2558Gly)
c.7664T>G (p.Val2555Gly)
c.1613T>G (p.Val538Gly)
c.1871T>G (p.Val624Gly)
c.7646T>G (p.Val2549Gly)
c.7565T>G (p.Val2522Gly)
n.6916T>G
c.7574T>G (p.Val2525Gly)
c.7451T>G (p.Val2484Gly)
n.1701T>G
c.5057T>G (p.Val1686Gly)
c.7670T>G (p.Val2557Gly)
c.5480T>G (p.Val1827Gly)
c.5156T>G (p.Val1719Gly)
11g.118503467G>ACA477359734KMT2Ac.7674G>A (p.Val2558=)
c.7665G>A (p.Val2555=)
c.1614G>A (p.Val538=)
c.1872G>A (p.Val624=)
c.7647G>A (p.Val2549=)
c.7566G>A (p.Val2522=)
n.6917G>A
c.7575G>A (p.Val2525=)
c.7452G>A (p.Val2484=)
n.1702G>A
c.5058G>A (p.Val1686=)
c.7671G>A (p.Val2557=)
c.5481G>A (p.Val1827=)
c.5157G>A (p.Val1719=)
11g.118503467G>CCA477359735KMT2Ac.7674G>C (p.Val2558=)
c.7665G>C (p.Val2555=)
c.1614G>C (p.Val538=)
c.1872G>C (p.Val624=)
c.7647G>C (p.Val2549=)
c.7566G>C (p.Val2522=)
n.6917G>C
c.7575G>C (p.Val2525=)
c.7452G>C (p.Val2484=)
n.1702G>C
c.5058G>C (p.Val1686=)
c.7671G>C (p.Val2557=)
c.5481G>C (p.Val1827=)
c.5157G>C (p.Val1719=)
dbSNP
11g.118503467G>TCA477359736KMT2Ac.7674G>T (p.Val2558=)
c.7665G>T (p.Val2555=)
c.1614G>T (p.Val538=)
c.1872G>T (p.Val624=)
c.7647G>T (p.Val2549=)
c.7566G>T (p.Val2522=)
n.6917G>T
c.7575G>T (p.Val2525=)
c.7452G>T (p.Val2484=)
n.1702G>T
c.5058G>T (p.Val1686=)
c.7671G>T (p.Val2557=)
c.5481G>T (p.Val1827=)
c.5157G>T (p.Val1719=)
11g.118503468A>CCA382806051KMT2Ac.7675A>C (p.Thr2559Pro)
c.7666A>C (p.Thr2556Pro)
c.1615A>C (p.Thr539Pro)
c.1873A>C (p.Thr625Pro)
c.7648A>C (p.Thr2550Pro)
c.7567A>C (p.Thr2523Pro)
n.6918A>C
c.7576A>C (p.Thr2526Pro)
c.7453A>C (p.Thr2485Pro)
n.1703A>C
c.5059A>C (p.Thr1687Pro)
c.7672A>C (p.Thr2558Pro)
c.5482A>C (p.Thr1828Pro)
c.5158A>C (p.Thr1720Pro)
11g.118503468A>GCA382806053KMT2Ac.7675A>G (p.Thr2559Ala)
c.7666A>G (p.Thr2556Ala)
c.1615A>G (p.Thr539Ala)
c.1873A>G (p.Thr625Ala)
c.7648A>G (p.Thr2550Ala)
c.7567A>G (p.Thr2523Ala)
n.6918A>G
c.7576A>G (p.Thr2526Ala)
c.7453A>G (p.Thr2485Ala)
n.1703A>G
c.5059A>G (p.Thr1687Ala)
c.7672A>G (p.Thr2558Ala)
c.5482A>G (p.Thr1828Ala)
c.5158A>G (p.Thr1720Ala)
11g.118503468A>TCA382806054KMT2Ac.7675A>T (p.Thr2559Ser)
c.7666A>T (p.Thr2556Ser)
c.1615A>T (p.Thr539Ser)
c.1873A>T (p.Thr625Ser)
c.7648A>T (p.Thr2550Ser)
c.7567A>T (p.Thr2523Ser)
n.6918A>T
c.7576A>T (p.Thr2526Ser)
c.7453A>T (p.Thr2485Ser)
n.1703A>T
c.5059A>T (p.Thr1687Ser)
c.7672A>T (p.Thr2558Ser)
c.5482A>T (p.Thr1828Ser)
c.5158A>T (p.Thr1720Ser)
11g.118503469C>ACA382806057KMT2Ac.7676C>A (p.Thr2559Lys)
c.7667C>A (p.Thr2556Lys)
c.1616C>A (p.Thr539Lys)
c.1874C>A (p.Thr625Lys)
c.7649C>A (p.Thr2550Lys)
c.7568C>A (p.Thr2523Lys)
n.6919C>A
c.7577C>A (p.Thr2526Lys)
c.7454C>A (p.Thr2485Lys)
n.1704C>A
c.5060C>A (p.Thr1687Lys)
c.7673C>A (p.Thr2558Lys)
c.5483C>A (p.Thr1828Lys)
c.5159C>A (p.Thr1720Lys)
11g.118503469C>GCA382806058KMT2Ac.7676C>G (p.Thr2559Arg)
c.7667C>G (p.Thr2556Arg)
c.1616C>G (p.Thr539Arg)
c.1874C>G (p.Thr625Arg)
c.7649C>G (p.Thr2550Arg)
c.7568C>G (p.Thr2523Arg)
n.6919C>G
c.7577C>G (p.Thr2526Arg)
c.7454C>G (p.Thr2485Arg)
n.1704C>G
c.5060C>G (p.Thr1687Arg)
c.7673C>G (p.Thr2558Arg)
c.5483C>G (p.Thr1828Arg)
c.5159C>G (p.Thr1720Arg)
11g.118503469C>TCA382806060KMT2Ac.7676C>T (p.Thr2559Ile)
c.7667C>T (p.Thr2556Ile)
c.1616C>T (p.Thr539Ile)
c.1874C>T (p.Thr625Ile)
c.7649C>T (p.Thr2550Ile)
c.7568C>T (p.Thr2523Ile)
n.6919C>T
c.7577C>T (p.Thr2526Ile)
c.7454C>T (p.Thr2485Ile)
n.1704C>T
c.5060C>T (p.Thr1687Ile)
c.7673C>T (p.Thr2558Ile)
c.5483C>T (p.Thr1828Ile)
c.5159C>T (p.Thr1720Ile)
11g.118503470A>CCA477359743KMT2Ac.7677A>C (p.Thr2559=)
c.7668A>C (p.Thr2556=)
c.1617A>C (p.Thr539=)
c.1875A>C (p.Thr625=)
c.7650A>C (p.Thr2550=)
c.7569A>C (p.Thr2523=)
n.6920A>C
c.7578A>C (p.Thr2526=)
c.7455A>C (p.Thr2485=)
n.1705A>C
c.5061A>C (p.Thr1687=)
c.7674A>C (p.Thr2558=)
c.5484A>C (p.Thr1828=)
c.5160A>C (p.Thr1720=)
11g.118503470A>GCA477359744KMT2Ac.7677A>G (p.Thr2559=)
c.7668A>G (p.Thr2556=)
c.1617A>G (p.Thr539=)
c.1875A>G (p.Thr625=)
c.7650A>G (p.Thr2550=)
c.7569A>G (p.Thr2523=)
n.6920A>G
c.7578A>G (p.Thr2526=)
c.7455A>G (p.Thr2485=)
n.1705A>G
c.5061A>G (p.Thr1687=)
c.7674A>G (p.Thr2558=)
c.5484A>G (p.Thr1828=)
c.5160A>G (p.Thr1720=)
gnomAD v4
11g.118503470A>TCA477359742KMT2Ac.7677A>T (p.Thr2559=)
c.7668A>T (p.Thr2556=)
c.1617A>T (p.Thr539=)
c.1875A>T (p.Thr625=)
c.7650A>T (p.Thr2550=)
c.7569A>T (p.Thr2523=)
n.6920A>T
c.7578A>T (p.Thr2526=)
c.7455A>T (p.Thr2485=)
n.1705A>T
c.5061A>T (p.Thr1687=)
c.7674A>T (p.Thr2558=)
c.5484A>T (p.Thr1828=)
c.5160A>T (p.Thr1720=)
11g.118503471C>ACA382806062KMT2Ac.7678C>A (p.Leu2560Met)
c.7669C>A (p.Leu2557Met)
c.1618C>A (p.Leu540Met)
c.1876C>A (p.Leu626Met)
c.7651C>A (p.Leu2551Met)
c.7570C>A (p.Leu2524Met)
n.6921C>A
c.7579C>A (p.Leu2527Met)
c.7456C>A (p.Leu2486Met)
n.1706C>A
c.5062C>A (p.Leu1688Met)
c.7675C>A (p.Leu2559Met)
c.5485C>A (p.Leu1829Met)
c.5161C>A (p.Leu1721Met)
11g.118503471C>GCA382806064KMT2Ac.7678C>G (p.Leu2560Val)
c.7669C>G (p.Leu2557Val)
c.1618C>G (p.Leu540Val)
c.1876C>G (p.Leu626Val)
c.7651C>G (p.Leu2551Val)
c.7570C>G (p.Leu2524Val)
n.6921C>G
c.7579C>G (p.Leu2527Val)
c.7456C>G (p.Leu2486Val)
n.1706C>G
c.5062C>G (p.Leu1688Val)
c.7675C>G (p.Leu2559Val)
c.5485C>G (p.Leu1829Val)
c.5161C>G (p.Leu1721Val)
11g.118503471C>TCA477359748KMT2Ac.7678C>T (p.Leu2560=)
c.7669C>T (p.Leu2557=)
c.1618C>T (p.Leu540=)
c.1876C>T (p.Leu626=)
c.7651C>T (p.Leu2551=)
c.7570C>T (p.Leu2524=)
n.6921C>T
c.7579C>T (p.Leu2527=)
c.7456C>T (p.Leu2486=)
n.1706C>T
c.5062C>T (p.Leu1688=)
c.7675C>T (p.Leu2559=)
c.5485C>T (p.Leu1829=)
c.5161C>T (p.Leu1721=)
11g.118503472T>ACA382806065KMT2Ac.7679T>A (p.Leu2560Gln)
c.7670T>A (p.Leu2557Gln)
c.1619T>A (p.Leu540Gln)
c.1877T>A (p.Leu626Gln)
c.7652T>A (p.Leu2551Gln)
c.7571T>A (p.Leu2524Gln)
n.6922T>A
c.7580T>A (p.Leu2527Gln)
c.7457T>A (p.Leu2486Gln)
n.1707T>A
c.5063T>A (p.Leu1688Gln)
c.7676T>A (p.Leu2559Gln)
c.5486T>A (p.Leu1829Gln)
c.5162T>A (p.Leu1721Gln)
11g.118503472T>CCA382806069KMT2Ac.7679T>C (p.Leu2560Pro)
c.7670T>C (p.Leu2557Pro)
c.1619T>C (p.Leu540Pro)
c.1877T>C (p.Leu626Pro)
c.7652T>C (p.Leu2551Pro)
c.7571T>C (p.Leu2524Pro)
n.6922T>C
c.7580T>C (p.Leu2527Pro)
c.7457T>C (p.Leu2486Pro)
n.1707T>C
c.5063T>C (p.Leu1688Pro)
c.7676T>C (p.Leu2559Pro)
c.5486T>C (p.Leu1829Pro)
c.5162T>C (p.Leu1721Pro)
11g.118503472T>GCA382806067KMT2Ac.7679T>G (p.Leu2560Arg)
c.7670T>G (p.Leu2557Arg)
c.1619T>G (p.Leu540Arg)
c.1877T>G (p.Leu626Arg)
c.7652T>G (p.Leu2551Arg)
c.7571T>G (p.Leu2524Arg)
n.6922T>G
c.7580T>G (p.Leu2527Arg)
c.7457T>G (p.Leu2486Arg)
n.1707T>G
c.5063T>G (p.Leu1688Arg)
c.7676T>G (p.Leu2559Arg)
c.5486T>G (p.Leu1829Arg)
c.5162T>G (p.Leu1721Arg)
11g.118503473G>ACA477359751KMT2Ac.7680G>A (p.Leu2560=)
c.7671G>A (p.Leu2557=)
c.1620G>A (p.Leu540=)
c.1878G>A (p.Leu626=)
c.7653G>A (p.Leu2551=)
c.7572G>A (p.Leu2524=)
n.6923G>A
c.7581G>A (p.Leu2527=)
c.7458G>A (p.Leu2486=)
n.1708G>A
c.5064G>A (p.Leu1688=)
c.7677G>A (p.Leu2559=)
c.5487G>A (p.Leu1829=)
c.5163G>A (p.Leu1721=)
dbSNP
11g.118503473G>CCA477359752KMT2Ac.7680G>C (p.Leu2560=)
c.7671G>C (p.Leu2557=)
c.1620G>C (p.Leu540=)
c.1878G>C (p.Leu626=)
c.7653G>C (p.Leu2551=)
c.7572G>C (p.Leu2524=)
n.6923G>C
c.7581G>C (p.Leu2527=)
c.7458G>C (p.Leu2486=)
n.1708G>C
c.5064G>C (p.Leu1688=)
c.7677G>C (p.Leu2559=)
c.5487G>C (p.Leu1829=)
c.5163G>C (p.Leu1721=)
dbSNP
11g.118503473G>TCA477359753KMT2Ac.7680G>T (p.Leu2560=)
c.7671G>T (p.Leu2557=)
c.1620G>T (p.Leu540=)
c.1878G>T (p.Leu626=)
c.7653G>T (p.Leu2551=)
c.7572G>T (p.Leu2524=)
n.6923G>T
c.7581G>T (p.Leu2527=)
c.7458G>T (p.Leu2486=)
n.1708G>T
c.5064G>T (p.Leu1688=)
c.7677G>T (p.Leu2559=)
c.5487G>T (p.Leu1829=)
c.5163G>T (p.Leu1721=)
dbSNP
11g.118503474A=CA2003527936KMT2Ac.7681A= (p.Thr2561=)
c.7672A= (p.Thr2558=)
c.1621A= (p.Thr541=)
c.1879A= (p.Thr627=)
c.7654A= (p.Thr2552=)
c.7573A= (p.Thr2525=)
n.6924A=
c.7582A= (p.Thr2528=)
c.7459A= (p.Thr2487=)
n.1709A=
c.5065A= (p.Thr1689=)
c.7678A= (p.Thr2560=)
c.5488A= (p.Thr1830=)
c.5164A= (p.Thr1722=)
11g.118503474A>CCA382806071KMT2Ac.7681A>C (p.Thr2561Pro)
c.7672A>C (p.Thr2558Pro)
c.1621A>C (p.Thr541Pro)
c.1879A>C (p.Thr627Pro)
c.7654A>C (p.Thr2552Pro)
c.7573A>C (p.Thr2525Pro)
n.6924A>C
c.7582A>C (p.Thr2528Pro)
c.7459A>C (p.Thr2487Pro)
n.1709A>C
c.5065A>C (p.Thr1689Pro)
c.7678A>C (p.Thr2560Pro)
c.5488A>C (p.Thr1830Pro)
c.5164A>C (p.Thr1722Pro)
dbSNP gnomAD v2 gnomAD v4
11g.118503474A>GCA382806072KMT2Ac.7681A>G (p.Thr2561Ala)
c.7672A>G (p.Thr2558Ala)
c.1621A>G (p.Thr541Ala)
c.1879A>G (p.Thr627Ala)
c.7654A>G (p.Thr2552Ala)
c.7573A>G (p.Thr2525Ala)
n.6924A>G
c.7582A>G (p.Thr2528Ala)
c.7459A>G (p.Thr2487Ala)
n.1709A>G
c.5065A>G (p.Thr1689Ala)
c.7678A>G (p.Thr2560Ala)
c.5488A>G (p.Thr1830Ala)
c.5164A>G (p.Thr1722Ala)
dbSNP gnomAD v4
11g.118503474A>TCA382806073KMT2Ac.7681A>T (p.Thr2561Ser)
c.7672A>T (p.Thr2558Ser)
c.1621A>T (p.Thr541Ser)
c.1879A>T (p.Thr627Ser)
c.7654A>T (p.Thr2552Ser)
c.7573A>T (p.Thr2525Ser)
n.6924A>T
c.7582A>T (p.Thr2528Ser)
c.7459A>T (p.Thr2487Ser)
n.1709A>T
c.5065A>T (p.Thr1689Ser)
c.7678A>T (p.Thr2560Ser)
c.5488A>T (p.Thr1830Ser)
c.5164A>T (p.Thr1722Ser)
11g.118503475C>ACA382806075KMT2Ac.7682C>A (p.Thr2561Lys)
c.7673C>A (p.Thr2558Lys)
c.1622C>A (p.Thr541Lys)
c.1880C>A (p.Thr627Lys)
c.7655C>A (p.Thr2552Lys)
c.7574C>A (p.Thr2525Lys)
n.6925C>A
c.7583C>A (p.Thr2528Lys)
c.7460C>A (p.Thr2487Lys)
n.1710C>A
c.5066C>A (p.Thr1689Lys)
c.7679C>A (p.Thr2560Lys)
c.5489C>A (p.Thr1830Lys)
c.5165C>A (p.Thr1722Lys)
11g.118503475C>GCA382806077KMT2Ac.7682C>G (p.Thr2561Arg)
c.7673C>G (p.Thr2558Arg)
c.1622C>G (p.Thr541Arg)
c.1880C>G (p.Thr627Arg)
c.7655C>G (p.Thr2552Arg)
c.7574C>G (p.Thr2525Arg)
n.6925C>G
c.7583C>G (p.Thr2528Arg)
c.7460C>G (p.Thr2487Arg)
n.1710C>G
c.5066C>G (p.Thr1689Arg)
c.7679C>G (p.Thr2560Arg)
c.5489C>G (p.Thr1830Arg)
c.5165C>G (p.Thr1722Arg)
11g.118503475C>TCA382806079KMT2Ac.7682C>T (p.Thr2561Ile)
c.7673C>T (p.Thr2558Ile)
c.1622C>T (p.Thr541Ile)
c.1880C>T (p.Thr627Ile)
c.7655C>T (p.Thr2552Ile)
c.7574C>T (p.Thr2525Ile)
n.6925C>T
c.7583C>T (p.Thr2528Ile)
c.7460C>T (p.Thr2487Ile)
n.1710C>T
c.5066C>T (p.Thr1689Ile)
c.7679C>T (p.Thr2560Ile)
c.5489C>T (p.Thr1830Ile)
c.5165C>T (p.Thr1722Ile)
11g.118503476A=CA2003527939KMT2Ac.7683A= (p.Thr2561=)
c.7674A= (p.Thr2558=)
c.1623A= (p.Thr541=)
c.1881A= (p.Thr627=)
c.7656A= (p.Thr2552=)
c.7575A= (p.Thr2525=)
n.6926A=
c.7584A= (p.Thr2528=)
c.7461A= (p.Thr2487=)
n.1711A=
c.5067A= (p.Thr1689=)
c.7680A= (p.Thr2560=)
c.5490A= (p.Thr1830=)
c.5166A= (p.Thr1722=)
11g.118503476A>CCA477359754KMT2Ac.7683A>C (p.Thr2561=)
c.7674A>C (p.Thr2558=)
c.1623A>C (p.Thr541=)
c.1881A>C (p.Thr627=)
c.7656A>C (p.Thr2552=)
c.7575A>C (p.Thr2525=)
n.6926A>C
c.7584A>C (p.Thr2528=)
c.7461A>C (p.Thr2487=)
n.1711A>C
c.5067A>C (p.Thr1689=)
c.7680A>C (p.Thr2560=)
c.5490A>C (p.Thr1830=)
c.5166A>C (p.Thr1722=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503476A>GCA477359758KMT2Ac.7683A>G (p.Thr2561=)
c.7674A>G (p.Thr2558=)
c.1623A>G (p.Thr541=)
c.1881A>G (p.Thr627=)
c.7656A>G (p.Thr2552=)
c.7575A>G (p.Thr2525=)
n.6926A>G
c.7584A>G (p.Thr2528=)
c.7461A>G (p.Thr2487=)
n.1711A>G
c.5067A>G (p.Thr1689=)
c.7680A>G (p.Thr2560=)
c.5490A>G (p.Thr1830=)
c.5166A>G (p.Thr1722=)
11g.118503476A>TCA477359756KMT2Ac.7683A>T (p.Thr2561=)
c.7674A>T (p.Thr2558=)
c.1623A>T (p.Thr541=)
c.1881A>T (p.Thr627=)
c.7656A>T (p.Thr2552=)
c.7575A>T (p.Thr2525=)
n.6926A>T
c.7584A>T (p.Thr2528=)
c.7461A>T (p.Thr2487=)
n.1711A>T
c.5067A>T (p.Thr1689=)
c.7680A>T (p.Thr2560=)
c.5490A>T (p.Thr1830=)
c.5166A>T (p.Thr1722=)
11g.118503477C>ACA382806080KMT2Ac.7684C>A (p.Pro2562Thr)
c.7675C>A (p.Pro2559Thr)
c.1624C>A (p.Pro542Thr)
c.1882C>A (p.Pro628Thr)
c.7657C>A (p.Pro2553Thr)
c.7576C>A (p.Pro2526Thr)
n.6927C>A
c.7585C>A (p.Pro2529Thr)
c.7462C>A (p.Pro2488Thr)
n.1712C>A
c.5068C>A (p.Pro1690Thr)
c.7681C>A (p.Pro2561Thr)
c.5491C>A (p.Pro1831Thr)
c.5167C>A (p.Pro1723Thr)
11g.118503477C>GCA382806082KMT2Ac.7684C>G (p.Pro2562Ala)
c.7675C>G (p.Pro2559Ala)
c.1624C>G (p.Pro542Ala)
c.1882C>G (p.Pro628Ala)
c.7657C>G (p.Pro2553Ala)
c.7576C>G (p.Pro2526Ala)
n.6927C>G
c.7585C>G (p.Pro2529Ala)
c.7462C>G (p.Pro2488Ala)
n.1712C>G
c.5068C>G (p.Pro1690Ala)
c.7681C>G (p.Pro2561Ala)
c.5491C>G (p.Pro1831Ala)
c.5167C>G (p.Pro1723Ala)
dbSNP
11g.118503477C>TCA382806084KMT2Ac.7684C>T (p.Pro2562Ser)
c.7675C>T (p.Pro2559Ser)
c.1624C>T (p.Pro542Ser)
c.1882C>T (p.Pro628Ser)
c.7657C>T (p.Pro2553Ser)
c.7576C>T (p.Pro2526Ser)
n.6927C>T
c.7585C>T (p.Pro2529Ser)
c.7462C>T (p.Pro2488Ser)
n.1712C>T
c.5068C>T (p.Pro1690Ser)
c.7681C>T (p.Pro2561Ser)
c.5491C>T (p.Pro1831Ser)
c.5167C>T (p.Pro1723Ser)
11g.118503478C>ACA382806086KMT2Ac.7685C>A (p.Pro2562His)
c.7676C>A (p.Pro2559His)
c.1625C>A (p.Pro542His)
c.1883C>A (p.Pro628His)
c.7658C>A (p.Pro2553His)
c.7577C>A (p.Pro2526His)
n.6928C>A
c.7586C>A (p.Pro2529His)
c.7463C>A (p.Pro2488His)
n.1713C>A
c.5069C>A (p.Pro1690His)
c.7682C>A (p.Pro2561His)
c.5492C>A (p.Pro1831His)
c.5168C>A (p.Pro1723His)
11g.118503478C=CA2003527943KMT2Ac.7685C= (p.Pro2562=)
c.7676C= (p.Pro2559=)
c.1625C= (p.Pro542=)
c.1883C= (p.Pro628=)
c.7658C= (p.Pro2553=)
c.7577C= (p.Pro2526=)
n.6928C=
c.7586C= (p.Pro2529=)
c.7463C= (p.Pro2488=)
n.1713C=
c.5069C= (p.Pro1690=)
c.7682C= (p.Pro2561=)
c.5492C= (p.Pro1831=)
c.5168C= (p.Pro1723=)
11g.118503478C>GCA382806087KMT2Ac.7685C>G (p.Pro2562Arg)
c.7676C>G (p.Pro2559Arg)
c.1625C>G (p.Pro542Arg)
c.1883C>G (p.Pro628Arg)
c.7658C>G (p.Pro2553Arg)
c.7577C>G (p.Pro2526Arg)
n.6928C>G
c.7586C>G (p.Pro2529Arg)
c.7463C>G (p.Pro2488Arg)
n.1713C>G
c.5069C>G (p.Pro1690Arg)
c.7682C>G (p.Pro2561Arg)
c.5492C>G (p.Pro1831Arg)
c.5168C>G (p.Pro1723Arg)
dbSNP
11g.118503478C>TCA382806089KMT2Ac.7685C>T (p.Pro2562Leu)
c.7676C>T (p.Pro2559Leu)
c.1625C>T (p.Pro542Leu)
c.1883C>T (p.Pro628Leu)
c.7658C>T (p.Pro2553Leu)
c.7577C>T (p.Pro2526Leu)
n.6928C>T
c.7586C>T (p.Pro2529Leu)
c.7463C>T (p.Pro2488Leu)
n.1713C>T
c.5069C>T (p.Pro1690Leu)
c.7682C>T (p.Pro2561Leu)
c.5492C>T (p.Pro1831Leu)
c.5168C>T (p.Pro1723Leu)
11g.118503479T>ACA477359759KMT2Ac.7686T>A (p.Pro2562=)
c.7677T>A (p.Pro2559=)
c.1626T>A (p.Pro542=)
c.1884T>A (p.Pro628=)
c.7659T>A (p.Pro2553=)
c.7578T>A (p.Pro2526=)
n.6929T>A
c.7587T>A (p.Pro2529=)
c.7464T>A (p.Pro2488=)
n.1714T>A
c.5070T>A (p.Pro1690=)
c.7683T>A (p.Pro2561=)
c.5493T>A (p.Pro1831=)
c.5169T>A (p.Pro1723=)
11g.118503479T>CCA477359760KMT2Ac.7686T>C (p.Pro2562=)
c.7677T>C (p.Pro2559=)
c.1626T>C (p.Pro542=)
c.1884T>C (p.Pro628=)
c.7659T>C (p.Pro2553=)
c.7578T>C (p.Pro2526=)
n.6929T>C
c.7587T>C (p.Pro2529=)
c.7464T>C (p.Pro2488=)
n.1714T>C
c.5070T>C (p.Pro1690=)
c.7683T>C (p.Pro2561=)
c.5493T>C (p.Pro1831=)
c.5169T>C (p.Pro1723=)
11g.118503479T>GCA477359768KMT2Ac.7686T>G (p.Pro2562=)
c.7677T>G (p.Pro2559=)
c.1626T>G (p.Pro542=)
c.1884T>G (p.Pro628=)
c.7659T>G (p.Pro2553=)
c.7578T>G (p.Pro2526=)
n.6929T>G
c.7587T>G (p.Pro2529=)
c.7464T>G (p.Pro2488=)
n.1714T>G
c.5070T>G (p.Pro1690=)
c.7683T>G (p.Pro2561=)
c.5493T>G (p.Pro1831=)
c.5169T>G (p.Pro1723=)
11g.118503480C>ACA382806091KMT2Ac.7687C>A (p.Leu2563Ile)
c.7678C>A (p.Leu2560Ile)
c.1627C>A (p.Leu543Ile)
c.1885C>A (p.Leu629Ile)
c.7660C>A (p.Leu2554Ile)
c.7579C>A (p.Leu2527Ile)
n.6930C>A
c.7588C>A (p.Leu2530Ile)
c.7465C>A (p.Leu2489Ile)
n.1715C>A
c.5071C>A (p.Leu1691Ile)
c.7684C>A (p.Leu2562Ile)
c.5494C>A (p.Leu1832Ile)
c.5170C>A (p.Leu1724Ile)
11g.118503480C>GCA382806093KMT2Ac.7687C>G (p.Leu2563Val)
c.7678C>G (p.Leu2560Val)
c.1627C>G (p.Leu543Val)
c.1885C>G (p.Leu629Val)
c.7660C>G (p.Leu2554Val)
c.7579C>G (p.Leu2527Val)
n.6930C>G
c.7588C>G (p.Leu2530Val)
c.7465C>G (p.Leu2489Val)
n.1715C>G
c.5071C>G (p.Leu1691Val)
c.7684C>G (p.Leu2562Val)
c.5494C>G (p.Leu1832Val)
c.5170C>G (p.Leu1724Val)
11g.118503480C>TCA477359769KMT2Ac.7687C>T (p.Leu2563=)
c.7678C>T (p.Leu2560=)
c.1627C>T (p.Leu543=)
c.1885C>T (p.Leu629=)
c.7660C>T (p.Leu2554=)
c.7579C>T (p.Leu2527=)
n.6930C>T
c.7588C>T (p.Leu2530=)
c.7465C>T (p.Leu2489=)
n.1715C>T
c.5071C>T (p.Leu1691=)
c.7684C>T (p.Leu2562=)
c.5494C>T (p.Leu1832=)
c.5170C>T (p.Leu1724=)
11g.118503481T>ACA382806096KMT2Ac.7688T>A (p.Leu2563Gln)
c.7679T>A (p.Leu2560Gln)
c.1628T>A (p.Leu543Gln)
c.1886T>A (p.Leu629Gln)
c.7661T>A (p.Leu2554Gln)
c.7580T>A (p.Leu2527Gln)
n.6931T>A
c.7589T>A (p.Leu2530Gln)
c.7466T>A (p.Leu2489Gln)
n.1716T>A
c.5072T>A (p.Leu1691Gln)
c.7685T>A (p.Leu2562Gln)
c.5495T>A (p.Leu1832Gln)
c.5171T>A (p.Leu1724Gln)
11g.118503481T>CCA382806095KMT2Ac.7688T>C (p.Leu2563Pro)
c.7679T>C (p.Leu2560Pro)
c.1628T>C (p.Leu543Pro)
c.1886T>C (p.Leu629Pro)
c.7661T>C (p.Leu2554Pro)
c.7580T>C (p.Leu2527Pro)
n.6931T>C
c.7589T>C (p.Leu2530Pro)
c.7466T>C (p.Leu2489Pro)
n.1716T>C
c.5072T>C (p.Leu1691Pro)
c.7685T>C (p.Leu2562Pro)
c.5495T>C (p.Leu1832Pro)
c.5171T>C (p.Leu1724Pro)
gnomAD v4
11g.118503481T>GCA382806094KMT2Ac.7688T>G (p.Leu2563Arg)
c.7679T>G (p.Leu2560Arg)
c.1628T>G (p.Leu543Arg)
c.1886T>G (p.Leu629Arg)
c.7661T>G (p.Leu2554Arg)
c.7580T>G (p.Leu2527Arg)
n.6931T>G
c.7589T>G (p.Leu2530Arg)
c.7466T>G (p.Leu2489Arg)
n.1716T>G
c.5072T>G (p.Leu1691Arg)
c.7685T>G (p.Leu2562Arg)
c.5495T>G (p.Leu1832Arg)
c.5171T>G (p.Leu1724Arg)
11g.118503482A=CA2003527945KMT2Ac.7689A= (p.Leu2563=)
c.7680A= (p.Leu2560=)
c.1629A= (p.Leu543=)
c.1887A= (p.Leu629=)
c.7662A= (p.Leu2554=)
c.7581A= (p.Leu2527=)
n.6932A=
c.7590A= (p.Leu2530=)
c.7467A= (p.Leu2489=)
n.1717A=
c.5073A= (p.Leu1691=)
c.7686A= (p.Leu2562=)
c.5496A= (p.Leu1832=)
c.5172A= (p.Leu1724=)
11g.118503482A>CCA477359771KMT2Ac.7689A>C (p.Leu2563=)
c.7680A>C (p.Leu2560=)
c.1629A>C (p.Leu543=)
c.1887A>C (p.Leu629=)
c.7662A>C (p.Leu2554=)
c.7581A>C (p.Leu2527=)
n.6932A>C
c.7590A>C (p.Leu2530=)
c.7467A>C (p.Leu2489=)
n.1717A>C
c.5073A>C (p.Leu1691=)
c.7686A>C (p.Leu2562=)
c.5496A>C (p.Leu1832=)
c.5172A>C (p.Leu1724=)
dbSNP
11g.118503482A>GCA477359773KMT2Ac.7689A>G (p.Leu2563=)
c.7680A>G (p.Leu2560=)
c.1629A>G (p.Leu543=)
c.1887A>G (p.Leu629=)
c.7662A>G (p.Leu2554=)
c.7581A>G (p.Leu2527=)
n.6932A>G
c.7590A>G (p.Leu2530=)
c.7467A>G (p.Leu2489=)
n.1717A>G
c.5073A>G (p.Leu1691=)
c.7686A>G (p.Leu2562=)
c.5496A>G (p.Leu1832=)
c.5172A>G (p.Leu1724=)
gnomAD v4
11g.118503482A>TCA477359776KMT2Ac.7689A>T (p.Leu2563=)
c.7680A>T (p.Leu2560=)
c.1629A>T (p.Leu543=)
c.1887A>T (p.Leu629=)
c.7662A>T (p.Leu2554=)
c.7581A>T (p.Leu2527=)
n.6932A>T
c.7590A>T (p.Leu2530=)
c.7467A>T (p.Leu2489=)
n.1717A>T
c.5073A>T (p.Leu1691=)
c.7686A>T (p.Leu2562=)
c.5496A>T (p.Leu1832=)
c.5172A>T (p.Leu1724=)
11g.118503486delCA645575347KMT2Ac.7693del (p.Met2565TrpfsTer11)
c.7684del (p.Met2562TrpfsTer11)
c.1633del (p.Met545TrpfsTer11)
c.1891del (p.Met631TrpfsTer11)
c.7666del (p.Met2556TrpfsTer11)
c.7585del (p.Met2529TrpfsTer11)
n.6936del
c.7594del (p.Met2532TrpfsTer11)
c.7471del (p.Met2491TrpfsTer11)
n.1721del
c.5077del (p.Met1693TrpfsTer11)
c.7690del (p.Met2564TrpfsTer11)
c.5500del (p.Met1834TrpfsTer11)
c.5176del (p.Met1726TrpfsTer11)
COSMIC COSMIC
11g.118503483A>CCA382806097KMT2Ac.7690A>C (p.Lys2564Gln)
c.7681A>C (p.Lys2561Gln)
c.1630A>C (p.Lys544Gln)
c.1888A>C (p.Lys630Gln)
c.7663A>C (p.Lys2555Gln)
c.7582A>C (p.Lys2528Gln)
n.6933A>C
c.7591A>C (p.Lys2531Gln)
c.7468A>C (p.Lys2490Gln)
n.1718A>C
c.5074A>C (p.Lys1692Gln)
c.7687A>C (p.Lys2563Gln)
c.5497A>C (p.Lys1833Gln)
c.5173A>C (p.Lys1725Gln)
11g.118503483A>GCA382806098KMT2Ac.7690A>G (p.Lys2564Glu)
c.7681A>G (p.Lys2561Glu)
c.1630A>G (p.Lys544Glu)
c.1888A>G (p.Lys630Glu)
c.7663A>G (p.Lys2555Glu)
c.7582A>G (p.Lys2528Glu)
n.6933A>G
c.7591A>G (p.Lys2531Glu)
c.7468A>G (p.Lys2490Glu)
n.1718A>G
c.5074A>G (p.Lys1692Glu)
c.7687A>G (p.Lys2563Glu)
c.5497A>G (p.Lys1833Glu)
c.5173A>G (p.Lys1725Glu)
11g.118503483A>TCA382806099KMT2Ac.7690A>T (p.Lys2564Ter)
c.7681A>T (p.Lys2561Ter)
c.1630A>T (p.Lys544Ter)
c.1888A>T (p.Lys630Ter)
c.7663A>T (p.Lys2555Ter)
c.7582A>T (p.Lys2528Ter)
n.6933A>T
c.7591A>T (p.Lys2531Ter)
c.7468A>T (p.Lys2490Ter)
n.1718A>T
c.5074A>T (p.Lys1692Ter)
c.7687A>T (p.Lys2563Ter)
c.5497A>T (p.Lys1833Ter)
c.5173A>T (p.Lys1725Ter)
11g.118503484A>CCA382806102KMT2Ac.7691A>C (p.Lys2564Thr)
c.7682A>C (p.Lys2561Thr)
c.1631A>C (p.Lys544Thr)
c.1889A>C (p.Lys630Thr)
c.7664A>C (p.Lys2555Thr)
c.7583A>C (p.Lys2528Thr)
n.6934A>C
c.7592A>C (p.Lys2531Thr)
c.7469A>C (p.Lys2490Thr)
n.1719A>C
c.5075A>C (p.Lys1692Thr)
c.7688A>C (p.Lys2563Thr)
c.5498A>C (p.Lys1833Thr)
c.5174A>C (p.Lys1725Thr)
11g.118503484A>GCA382806103KMT2Ac.7691A>G (p.Lys2564Arg)
c.7682A>G (p.Lys2561Arg)
c.1631A>G (p.Lys544Arg)
c.1889A>G (p.Lys630Arg)
c.7664A>G (p.Lys2555Arg)
c.7583A>G (p.Lys2528Arg)
n.6934A>G
c.7592A>G (p.Lys2531Arg)
c.7469A>G (p.Lys2490Arg)
n.1719A>G
c.5075A>G (p.Lys1692Arg)
c.7688A>G (p.Lys2563Arg)
c.5498A>G (p.Lys1833Arg)
c.5174A>G (p.Lys1725Arg)
11g.118503484A>TCA382806105KMT2Ac.7691A>T (p.Lys2564Ile)
c.7682A>T (p.Lys2561Ile)
c.1631A>T (p.Lys544Ile)
c.1889A>T (p.Lys630Ile)
c.7664A>T (p.Lys2555Ile)
c.7583A>T (p.Lys2528Ile)
n.6934A>T
c.7592A>T (p.Lys2531Ile)
c.7469A>T (p.Lys2490Ile)
n.1719A>T
c.5075A>T (p.Lys1692Ile)
c.7688A>T (p.Lys2563Ile)
c.5498A>T (p.Lys1833Ile)
c.5174A>T (p.Lys1725Ile)
11g.118503485A>CCA382806106KMT2Ac.7692A>C (p.Lys2564Asn)
c.7683A>C (p.Lys2561Asn)
c.1632A>C (p.Lys544Asn)
c.1890A>C (p.Lys630Asn)
c.7665A>C (p.Lys2555Asn)
c.7584A>C (p.Lys2528Asn)
n.6935A>C
c.7593A>C (p.Lys2531Asn)
c.7470A>C (p.Lys2490Asn)
n.1720A>C
c.5076A>C (p.Lys1692Asn)
c.7689A>C (p.Lys2563Asn)
c.5499A>C (p.Lys1833Asn)
c.5175A>C (p.Lys1725Asn)
11g.118503485A>GCA477359781KMT2Ac.7692A>G (p.Lys2564=)
c.7683A>G (p.Lys2561=)
c.1632A>G (p.Lys544=)
c.1890A>G (p.Lys630=)
c.7665A>G (p.Lys2555=)
c.7584A>G (p.Lys2528=)
n.6935A>G
c.7593A>G (p.Lys2531=)
c.7470A>G (p.Lys2490=)
n.1720A>G
c.5076A>G (p.Lys1692=)
c.7689A>G (p.Lys2563=)
c.5499A>G (p.Lys1833=)
c.5175A>G (p.Lys1725=)
gnomAD v4
11g.118503485A>TCA382806108KMT2Ac.7692A>T (p.Lys2564Asn)
c.7683A>T (p.Lys2561Asn)
c.1632A>T (p.Lys544Asn)
c.1890A>T (p.Lys630Asn)
c.7665A>T (p.Lys2555Asn)
c.7584A>T (p.Lys2528Asn)
n.6935A>T
c.7593A>T (p.Lys2531Asn)
c.7470A>T (p.Lys2490Asn)
n.1720A>T
c.5076A>T (p.Lys1692Asn)
c.7689A>T (p.Lys2563Asn)
c.5499A>T (p.Lys1833Asn)
c.5175A>T (p.Lys1725Asn)
11g.118503486A>CCA382806110KMT2Ac.7693A>C (p.Met2565Leu)
c.7684A>C (p.Met2562Leu)
c.1633A>C (p.Met545Leu)
c.1891A>C (p.Met631Leu)
c.7666A>C (p.Met2556Leu)
c.7585A>C (p.Met2529Leu)
n.6936A>C
c.7594A>C (p.Met2532Leu)
c.7471A>C (p.Met2491Leu)
n.1721A>C
c.5077A>C (p.Met1693Leu)
c.7690A>C (p.Met2564Leu)
c.5500A>C (p.Met1834Leu)
c.5176A>C (p.Met1726Leu)
11g.118503486A>GCA382806112KMT2Ac.7693A>G (p.Met2565Val)
c.7684A>G (p.Met2562Val)
c.1633A>G (p.Met545Val)
c.1891A>G (p.Met631Val)
c.7666A>G (p.Met2556Val)
c.7585A>G (p.Met2529Val)
n.6936A>G
c.7594A>G (p.Met2532Val)
c.7471A>G (p.Met2491Val)
n.1721A>G
c.5077A>G (p.Met1693Val)
c.7690A>G (p.Met2564Val)
c.5500A>G (p.Met1834Val)
c.5176A>G (p.Met1726Val)
11g.118503486A>TCA382806113KMT2Ac.7693A>T (p.Met2565Leu)
c.7684A>T (p.Met2562Leu)
c.1633A>T (p.Met545Leu)
c.1891A>T (p.Met631Leu)
c.7666A>T (p.Met2556Leu)
c.7585A>T (p.Met2529Leu)
n.6936A>T
c.7594A>T (p.Met2532Leu)
c.7471A>T (p.Met2491Leu)
n.1721A>T
c.5077A>T (p.Met1693Leu)
c.7690A>T (p.Met2564Leu)
c.5500A>T (p.Met1834Leu)
c.5176A>T (p.Met1726Leu)
11g.118503487T>ACA382806115KMT2Ac.7694T>A (p.Met2565Lys)
c.7685T>A (p.Met2562Lys)
c.1634T>A (p.Met545Lys)
c.1892T>A (p.Met631Lys)
c.7667T>A (p.Met2556Lys)
c.7586T>A (p.Met2529Lys)
n.6937T>A
c.7595T>A (p.Met2532Lys)
c.7472T>A (p.Met2491Lys)
n.1722T>A
c.5078T>A (p.Met1693Lys)
c.7691T>A (p.Met2564Lys)
c.5501T>A (p.Met1834Lys)
c.5177T>A (p.Met1726Lys)
11g.118503487T>CCA382806117KMT2Ac.7694T>C (p.Met2565Thr)
c.7685T>C (p.Met2562Thr)
c.1634T>C (p.Met545Thr)
c.1892T>C (p.Met631Thr)
c.7667T>C (p.Met2556Thr)
c.7586T>C (p.Met2529Thr)
n.6937T>C
c.7595T>C (p.Met2532Thr)
c.7472T>C (p.Met2491Thr)
n.1722T>C
c.5078T>C (p.Met1693Thr)
c.7691T>C (p.Met2564Thr)
c.5501T>C (p.Met1834Thr)
c.5177T>C (p.Met1726Thr)
11g.118503487T>GCA382806119KMT2Ac.7694T>G (p.Met2565Arg)
c.7685T>G (p.Met2562Arg)
c.1634T>G (p.Met545Arg)
c.1892T>G (p.Met631Arg)
c.7667T>G (p.Met2556Arg)
c.7586T>G (p.Met2529Arg)
n.6937T>G
c.7595T>G (p.Met2532Arg)
c.7472T>G (p.Met2491Arg)
n.1722T>G
c.5078T>G (p.Met1693Arg)
c.7691T>G (p.Met2564Arg)
c.5501T>G (p.Met1834Arg)
c.5177T>G (p.Met1726Arg)
11g.118503488G>ACA382806122KMT2Ac.7695G>A (p.Met2565Ile)
c.7686G>A (p.Met2562Ile)
c.1635G>A (p.Met545Ile)
c.1893G>A (p.Met631Ile)
c.7668G>A (p.Met2556Ile)
c.7587G>A (p.Met2529Ile)
n.6938G>A
c.7596G>A (p.Met2532Ile)
c.7473G>A (p.Met2491Ile)
n.1723G>A
c.5079G>A (p.Met1693Ile)
c.7692G>A (p.Met2564Ile)
c.5502G>A (p.Met1834Ile)
c.5178G>A (p.Met1726Ile)
gnomAD v4
11g.118503488G>CCA382806124KMT2Ac.7695G>C (p.Met2565Ile)
c.7686G>C (p.Met2562Ile)
c.1635G>C (p.Met545Ile)
c.1893G>C (p.Met631Ile)
c.7668G>C (p.Met2556Ile)
c.7587G>C (p.Met2529Ile)
n.6938G>C
c.7596G>C (p.Met2532Ile)
c.7473G>C (p.Met2491Ile)
n.1723G>C
c.5079G>C (p.Met1693Ile)
c.7692G>C (p.Met2564Ile)
c.5502G>C (p.Met1834Ile)
c.5178G>C (p.Met1726Ile)
11g.118503488G>TCA382806120KMT2Ac.7695G>T (p.Met2565Ile)
c.7686G>T (p.Met2562Ile)
c.1635G>T (p.Met545Ile)
c.1893G>T (p.Met631Ile)
c.7668G>T (p.Met2556Ile)
c.7587G>T (p.Met2529Ile)
n.6938G>T
c.7596G>T (p.Met2532Ile)
c.7473G>T (p.Met2491Ile)
n.1723G>T
c.5079G>T (p.Met1693Ile)
c.7692G>T (p.Met2564Ile)
c.5502G>T (p.Met1834Ile)
c.5178G>T (p.Met1726Ile)
11g.118503489delCA2499220790KMT2Ac.7696del (p.Glu2566LysfsTer10)
c.7687del (p.Glu2563LysfsTer10)
c.1636del (p.Glu546LysfsTer10)
c.1894del (p.Glu632LysfsTer10)
c.7669del (p.Glu2557LysfsTer10)
c.7588del (p.Glu2530LysfsTer10)
n.6939del
c.7597del (p.Glu2533LysfsTer10)
c.7474del (p.Glu2492LysfsTer10)
n.1724del
c.5080del (p.Glu1694LysfsTer10)
c.7693del (p.Glu2565LysfsTer10)
c.5503del (p.Glu1835LysfsTer10)
c.5179del (p.Glu1727LysfsTer10)
ClinVar dbSNP
11g.118503489G>ACA382806126KMT2Ac.7696G>A (p.Glu2566Lys)
c.7687G>A (p.Glu2563Lys)
c.1636G>A (p.Glu546Lys)
c.1894G>A (p.Glu632Lys)
c.7669G>A (p.Glu2557Lys)
c.7588G>A (p.Glu2530Lys)
n.6939G>A
c.7597G>A (p.Glu2533Lys)
c.7474G>A (p.Glu2492Lys)
n.1724G>A
c.5080G>A (p.Glu1694Lys)
c.7693G>A (p.Glu2565Lys)
c.5503G>A (p.Glu1835Lys)
c.5179G>A (p.Glu1727Lys)
11g.118503489G>CCA382806127KMT2Ac.7696G>C (p.Glu2566Gln)
c.7687G>C (p.Glu2563Gln)
c.1636G>C (p.Glu546Gln)
c.1894G>C (p.Glu632Gln)
c.7669G>C (p.Glu2557Gln)
c.7588G>C (p.Glu2530Gln)
n.6939G>C
c.7597G>C (p.Glu2533Gln)
c.7474G>C (p.Glu2492Gln)
n.1724G>C
c.5080G>C (p.Glu1694Gln)
c.7693G>C (p.Glu2565Gln)
c.5503G>C (p.Glu1835Gln)
c.5179G>C (p.Glu1727Gln)
11g.118503489G>TCA382806129KMT2Ac.7696G>T (p.Glu2566Ter)
c.7687G>T (p.Glu2563Ter)
c.1636G>T (p.Glu546Ter)
c.1894G>T (p.Glu632Ter)
c.7669G>T (p.Glu2557Ter)
c.7588G>T (p.Glu2530Ter)
n.6939G>T
c.7597G>T (p.Glu2533Ter)
c.7474G>T (p.Glu2492Ter)
n.1724G>T
c.5080G>T (p.Glu1694Ter)
c.7693G>T (p.Glu2565Ter)
c.5503G>T (p.Glu1835Ter)
c.5179G>T (p.Glu1727Ter)
11g.118503490A=CA2003527949KMT2Ac.7697A= (p.Glu2566=)
c.7688A= (p.Glu2563=)
c.1637A= (p.Glu546=)
c.1895A= (p.Glu632=)
c.7670A= (p.Glu2557=)
c.7589A= (p.Glu2530=)
n.6940A=
c.7598A= (p.Glu2533=)
c.7475A= (p.Glu2492=)
n.1725A=
c.5081A= (p.Glu1694=)
c.7694A= (p.Glu2565=)
c.5504A= (p.Glu1835=)
c.5180A= (p.Glu1727=)
11g.118503490A>CCA382806131KMT2Ac.7697A>C (p.Glu2566Ala)
c.7688A>C (p.Glu2563Ala)
c.1637A>C (p.Glu546Ala)
c.1895A>C (p.Glu632Ala)
c.7670A>C (p.Glu2557Ala)
c.7589A>C (p.Glu2530Ala)
n.6940A>C
c.7598A>C (p.Glu2533Ala)
c.7475A>C (p.Glu2492Ala)
n.1725A>C
c.5081A>C (p.Glu1694Ala)
c.7694A>C (p.Glu2565Ala)
c.5504A>C (p.Glu1835Ala)
c.5180A>C (p.Glu1727Ala)
ClinVar dbSNP
11g.118503490A>GCA382806133KMT2Ac.7697A>G (p.Glu2566Gly)
c.7688A>G (p.Glu2563Gly)
c.1637A>G (p.Glu546Gly)
c.1895A>G (p.Glu632Gly)
c.7670A>G (p.Glu2557Gly)
c.7589A>G (p.Glu2530Gly)
n.6940A>G
c.7598A>G (p.Glu2533Gly)
c.7475A>G (p.Glu2492Gly)
n.1725A>G
c.5081A>G (p.Glu1694Gly)
c.7694A>G (p.Glu2565Gly)
c.5504A>G (p.Glu1835Gly)
c.5180A>G (p.Glu1727Gly)
11g.118503490A>TCA382806134KMT2Ac.7697A>T (p.Glu2566Val)
c.7688A>T (p.Glu2563Val)
c.1637A>T (p.Glu546Val)
c.1895A>T (p.Glu632Val)
c.7670A>T (p.Glu2557Val)
c.7589A>T (p.Glu2530Val)
n.6940A>T
c.7598A>T (p.Glu2533Val)
c.7475A>T (p.Glu2492Val)
n.1725A>T
c.5081A>T (p.Glu1694Val)
c.7694A>T (p.Glu2565Val)
c.5504A>T (p.Glu1835Val)
c.5180A>T (p.Glu1727Val)
11g.118503493delCA2725065649KMT2Ac.7700del (p.Asn2567MetfsTer9)
c.7691del (p.Asn2564MetfsTer9)
c.1640del (p.Asn547MetfsTer9)
c.1898del (p.Asn633MetfsTer9)
c.7673del (p.Asn2558MetfsTer9)
c.7592del (p.Asn2531MetfsTer9)
n.6943del
c.7601del (p.Asn2534MetfsTer9)
c.7478del (p.Asn2493MetfsTer9)
n.1728del
c.5084del (p.Asn1695MetfsTer9)
c.7697del (p.Asn2566MetfsTer9)
c.5507del (p.Asn1836MetfsTer9)
c.5183del (p.Asn1728MetfsTer9)
dbSNP
11g.118503491A>CCA382806136KMT2Ac.7698A>C (p.Glu2566Asp)
c.7689A>C (p.Glu2563Asp)
c.1638A>C (p.Glu546Asp)
c.1896A>C (p.Glu632Asp)
c.7671A>C (p.Glu2557Asp)
c.7590A>C (p.Glu2530Asp)
n.6941A>C
c.7599A>C (p.Glu2533Asp)
c.7476A>C (p.Glu2492Asp)
n.1726A>C
c.5082A>C (p.Glu1694Asp)
c.7695A>C (p.Glu2565Asp)
c.5505A>C (p.Glu1835Asp)
c.5181A>C (p.Glu1727Asp)
11g.118503491A>GCA477359794KMT2Ac.7698A>G (p.Glu2566=)
c.7689A>G (p.Glu2563=)
c.1638A>G (p.Glu546=)
c.1896A>G (p.Glu632=)
c.7671A>G (p.Glu2557=)
c.7590A>G (p.Glu2530=)
n.6941A>G
c.7599A>G (p.Glu2533=)
c.7476A>G (p.Glu2492=)
n.1726A>G
c.5082A>G (p.Glu1694=)
c.7695A>G (p.Glu2565=)
c.5505A>G (p.Glu1835=)
c.5181A>G (p.Glu1727=)
11g.118503491A>TCA382806138KMT2Ac.7698A>T (p.Glu2566Asp)
c.7689A>T (p.Glu2563Asp)
c.1638A>T (p.Glu546Asp)
c.1896A>T (p.Glu632Asp)
c.7671A>T (p.Glu2557Asp)
c.7590A>T (p.Glu2530Asp)
n.6941A>T
c.7599A>T (p.Glu2533Asp)
c.7476A>T (p.Glu2492Asp)
n.1726A>T
c.5082A>T (p.Glu1694Asp)
c.7695A>T (p.Glu2565Asp)
c.5505A>T (p.Glu1835Asp)
c.5181A>T (p.Glu1727Asp)
gnomAD v4
11g.118503492A>CCA382806139KMT2Ac.7699A>C (p.Asn2567His)
c.7690A>C (p.Asn2564His)
c.1639A>C (p.Asn547His)
c.1897A>C (p.Asn633His)
c.7672A>C (p.Asn2558His)
c.7591A>C (p.Asn2531His)
n.6942A>C
c.7600A>C (p.Asn2534His)
c.7477A>C (p.Asn2493His)
n.1727A>C
c.5083A>C (p.Asn1695His)
c.7696A>C (p.Asn2566His)
c.5506A>C (p.Asn1836His)
c.5182A>C (p.Asn1728His)
11g.118503492A>GCA382806141KMT2Ac.7699A>G (p.Asn2567Asp)
c.7690A>G (p.Asn2564Asp)
c.1639A>G (p.Asn547Asp)
c.1897A>G (p.Asn633Asp)
c.7672A>G (p.Asn2558Asp)
c.7591A>G (p.Asn2531Asp)
n.6942A>G
c.7600A>G (p.Asn2534Asp)
c.7477A>G (p.Asn2493Asp)
n.1727A>G
c.5083A>G (p.Asn1695Asp)
c.7696A>G (p.Asn2566Asp)
c.5506A>G (p.Asn1836Asp)
c.5182A>G (p.Asn1728Asp)
gnomAD v4
11g.118503492A>TCA382806142KMT2Ac.7699A>T (p.Asn2567Tyr)
c.7690A>T (p.Asn2564Tyr)
c.1639A>T (p.Asn547Tyr)
c.1897A>T (p.Asn633Tyr)
c.7672A>T (p.Asn2558Tyr)
c.7591A>T (p.Asn2531Tyr)
n.6942A>T
c.7600A>T (p.Asn2534Tyr)
c.7477A>T (p.Asn2493Tyr)
n.1727A>T
c.5083A>T (p.Asn1695Tyr)
c.7696A>T (p.Asn2566Tyr)
c.5506A>T (p.Asn1836Tyr)
c.5182A>T (p.Asn1728Tyr)
11g.118503493A>CCA382806145KMT2Ac.7700A>C (p.Asn2567Thr)
c.7691A>C (p.Asn2564Thr)
c.1640A>C (p.Asn547Thr)
c.1898A>C (p.Asn633Thr)
c.7673A>C (p.Asn2558Thr)
c.7592A>C (p.Asn2531Thr)
n.6943A>C
c.7601A>C (p.Asn2534Thr)
c.7478A>C (p.Asn2493Thr)
n.1728A>C
c.5084A>C (p.Asn1695Thr)
c.7697A>C (p.Asn2566Thr)
c.5507A>C (p.Asn1836Thr)
c.5183A>C (p.Asn1728Thr)
11g.118503493A>GCA382806146KMT2Ac.7700A>G (p.Asn2567Ser)
c.7691A>G (p.Asn2564Ser)
c.1640A>G (p.Asn547Ser)
c.1898A>G (p.Asn633Ser)
c.7673A>G (p.Asn2558Ser)
c.7592A>G (p.Asn2531Ser)
n.6943A>G
c.7601A>G (p.Asn2534Ser)
c.7478A>G (p.Asn2493Ser)
n.1728A>G
c.5084A>G (p.Asn1695Ser)
c.7697A>G (p.Asn2566Ser)
c.5507A>G (p.Asn1836Ser)
c.5183A>G (p.Asn1728Ser)
11g.118503493A>TCA382806147KMT2Ac.7700A>T (p.Asn2567Ile)
c.7691A>T (p.Asn2564Ile)
c.1640A>T (p.Asn547Ile)
c.1898A>T (p.Asn633Ile)
c.7673A>T (p.Asn2558Ile)
c.7592A>T (p.Asn2531Ile)
n.6943A>T
c.7601A>T (p.Asn2534Ile)
c.7478A>T (p.Asn2493Ile)
n.1728A>T
c.5084A>T (p.Asn1695Ile)
c.7697A>T (p.Asn2566Ile)
c.5507A>T (p.Asn1836Ile)
c.5183A>T (p.Asn1728Ile)
11g.118503494T>ACA382806150KMT2Ac.7701T>A (p.Asn2567Lys)
c.7692T>A (p.Asn2564Lys)
c.1641T>A (p.Asn547Lys)
c.1899T>A (p.Asn633Lys)
c.7674T>A (p.Asn2558Lys)
c.7593T>A (p.Asn2531Lys)
n.6944T>A
c.7602T>A (p.Asn2534Lys)
c.7479T>A (p.Asn2493Lys)
n.1729T>A
c.5085T>A (p.Asn1695Lys)
c.7698T>A (p.Asn2566Lys)
c.5508T>A (p.Asn1836Lys)
c.5184T>A (p.Asn1728Lys)
11g.118503494T>CCA477359799KMT2Ac.7701T>C (p.Asn2567=)
c.7692T>C (p.Asn2564=)
c.1641T>C (p.Asn547=)
c.1899T>C (p.Asn633=)
c.7674T>C (p.Asn2558=)
c.7593T>C (p.Asn2531=)
n.6944T>C
c.7602T>C (p.Asn2534=)
c.7479T>C (p.Asn2493=)
n.1729T>C
c.5085T>C (p.Asn1695=)
c.7698T>C (p.Asn2566=)
c.5508T>C (p.Asn1836=)
c.5184T>C (p.Asn1728=)
gnomAD v4
11g.118503494T>GCA382806151KMT2Ac.7701T>G (p.Asn2567Lys)
c.7692T>G (p.Asn2564Lys)
c.1641T>G (p.Asn547Lys)
c.1899T>G (p.Asn633Lys)
c.7674T>G (p.Asn2558Lys)
c.7593T>G (p.Asn2531Lys)
n.6944T>G
c.7602T>G (p.Asn2534Lys)
c.7479T>G (p.Asn2493Lys)
n.1729T>G
c.5085T>G (p.Asn1695Lys)
c.7698T>G (p.Asn2566Lys)
c.5508T>G (p.Asn1836Lys)
c.5184T>G (p.Asn1728Lys)
gnomAD v4
11g.118503495G>ACA382806153KMT2Ac.7702G>A (p.Glu2568Lys)
c.7693G>A (p.Glu2565Lys)
c.1642G>A (p.Glu548Lys)
c.1900G>A (p.Glu634Lys)
c.7675G>A (p.Glu2559Lys)
c.7594G>A (p.Glu2532Lys)
n.6945G>A
c.7603G>A (p.Glu2535Lys)
c.7480G>A (p.Glu2494Lys)
n.1730G>A
c.5086G>A (p.Glu1696Lys)
c.7699G>A (p.Glu2567Lys)
c.5509G>A (p.Glu1837Lys)
c.5185G>A (p.Glu1729Lys)
dbSNP gnomAD v4
11g.118503495G>CCA382806154KMT2Ac.7702G>C (p.Glu2568Gln)
c.7693G>C (p.Glu2565Gln)
c.1642G>C (p.Glu548Gln)
c.1900G>C (p.Glu634Gln)
c.7675G>C (p.Glu2559Gln)
c.7594G>C (p.Glu2532Gln)
n.6945G>C
c.7603G>C (p.Glu2535Gln)
c.7480G>C (p.Glu2494Gln)
n.1730G>C
c.5086G>C (p.Glu1696Gln)
c.7699G>C (p.Glu2567Gln)
c.5509G>C (p.Glu1837Gln)
c.5185G>C (p.Glu1729Gln)
11g.118503495G>TCA382806156KMT2Ac.7702G>T (p.Glu2568Ter)
c.7693G>T (p.Glu2565Ter)
c.1642G>T (p.Glu548Ter)
c.1900G>T (p.Glu634Ter)
c.7675G>T (p.Glu2559Ter)
c.7594G>T (p.Glu2532Ter)
n.6945G>T
c.7603G>T (p.Glu2535Ter)
c.7480G>T (p.Glu2494Ter)
n.1730G>T
c.5086G>T (p.Glu1696Ter)
c.7699G>T (p.Glu2567Ter)
c.5509G>T (p.Glu1837Ter)
c.5185G>T (p.Glu1729Ter)
11g.118503498_118503499delCA2695238918KMT2Ac.7705_7706del (p.Gln2570IlefsTer9)
c.7696_7697del (p.Gln2567IlefsTer9)
c.1645_1646del (p.Gln550IlefsTer9)
c.1903_1904del (p.Gln636IlefsTer9)
c.7678_7679del (p.Gln2561IlefsTer9)
c.7597_7598del (p.Gln2534IlefsTer9)
n.6948_6949del
c.7606_7607del (p.Gln2537IlefsTer9)
c.7483_7484del (p.Gln2496IlefsTer9)
n.1733_1734del
c.5089_5090del (p.Gln1698IlefsTer9)
c.7702_7703del (p.Gln2569IlefsTer9)
c.5512_5513del (p.Gln1839IlefsTer9)
c.5188_5189del (p.Gln1731IlefsTer9)
11g.118503496A>CCA382806158KMT2Ac.7703A>C (p.Glu2568Ala)
c.7694A>C (p.Glu2565Ala)
c.1643A>C (p.Glu548Ala)
c.1901A>C (p.Glu634Ala)
c.7676A>C (p.Glu2559Ala)
c.7595A>C (p.Glu2532Ala)
n.6946A>C
c.7604A>C (p.Glu2535Ala)
c.7481A>C (p.Glu2494Ala)
n.1731A>C
c.5087A>C (p.Glu1696Ala)
c.7700A>C (p.Glu2567Ala)
c.5510A>C (p.Glu1837Ala)
c.5186A>C (p.Glu1729Ala)
11g.118503496A>GCA382806160KMT2Ac.7703A>G (p.Glu2568Gly)
c.7694A>G (p.Glu2565Gly)
c.1643A>G (p.Glu548Gly)
c.1901A>G (p.Glu634Gly)
c.7676A>G (p.Glu2559Gly)
c.7595A>G (p.Glu2532Gly)
n.6946A>G
c.7604A>G (p.Glu2535Gly)
c.7481A>G (p.Glu2494Gly)
n.1731A>G
c.5087A>G (p.Glu1696Gly)
c.7700A>G (p.Glu2567Gly)
c.5510A>G (p.Glu1837Gly)
c.5186A>G (p.Glu1729Gly)
11g.118503496A>TCA382806161KMT2Ac.7703A>T (p.Glu2568Val)
c.7694A>T (p.Glu2565Val)
c.1643A>T (p.Glu548Val)
c.1901A>T (p.Glu634Val)
c.7676A>T (p.Glu2559Val)
c.7595A>T (p.Glu2532Val)
n.6946A>T
c.7604A>T (p.Glu2535Val)
c.7481A>T (p.Glu2494Val)
n.1731A>T
c.5087A>T (p.Glu1696Val)
c.7700A>T (p.Glu2567Val)
c.5510A>T (p.Glu1837Val)
c.5186A>T (p.Glu1729Val)
11g.118503497G>ACA477359804KMT2Ac.7704G>A (p.Glu2568=)
c.7695G>A (p.Glu2565=)
c.1644G>A (p.Glu548=)
c.1902G>A (p.Glu634=)
c.7677G>A (p.Glu2559=)
c.7596G>A (p.Glu2532=)
n.6947G>A
c.7605G>A (p.Glu2535=)
c.7482G>A (p.Glu2494=)
n.1732G>A
c.5088G>A (p.Glu1696=)
c.7701G>A (p.Glu2567=)
c.5511G>A (p.Glu1837=)
c.5187G>A (p.Glu1729=)
ClinVar dbSNP
11g.118503497G>CCA382806162KMT2Ac.7704G>C (p.Glu2568Asp)
c.7695G>C (p.Glu2565Asp)
c.1644G>C (p.Glu548Asp)
c.1902G>C (p.Glu634Asp)
c.7677G>C (p.Glu2559Asp)
c.7596G>C (p.Glu2532Asp)
n.6947G>C
c.7605G>C (p.Glu2535Asp)
c.7482G>C (p.Glu2494Asp)
n.1732G>C
c.5088G>C (p.Glu1696Asp)
c.7701G>C (p.Glu2567Asp)
c.5511G>C (p.Glu1837Asp)
c.5187G>C (p.Glu1729Asp)
dbSNP gnomAD v4
11g.118503497G=CA2003527954KMT2Ac.7704G= (p.Glu2568=)
c.7695G= (p.Glu2565=)
c.1644G= (p.Glu548=)
c.1902G= (p.Glu634=)
c.7677G= (p.Glu2559=)
c.7596G= (p.Glu2532=)
n.6947G=
c.7605G= (p.Glu2535=)
c.7482G= (p.Glu2494=)
n.1732G=
c.5088G= (p.Glu1696=)
c.7701G= (p.Glu2567=)
c.5511G= (p.Glu1837=)
c.5187G= (p.Glu1729=)
11g.118503497G>TCA382806164KMT2Ac.7704G>T (p.Glu2568Asp)
c.7695G>T (p.Glu2565Asp)
c.1644G>T (p.Glu548Asp)
c.1902G>T (p.Glu634Asp)
c.7677G>T (p.Glu2559Asp)
c.7596G>T (p.Glu2532Asp)
n.6947G>T
c.7605G>T (p.Glu2535Asp)
c.7482G>T (p.Glu2494Asp)
n.1732G>T
c.5088G>T (p.Glu1696Asp)
c.7701G>T (p.Glu2567Asp)
c.5511G>T (p.Glu1837Asp)
c.5187G>T (p.Glu1729Asp)
11g.118503498A>CCA382806166KMT2Ac.7705A>C (p.Ser2569Arg)
c.7696A>C (p.Ser2566Arg)
c.1645A>C (p.Ser549Arg)
c.1903A>C (p.Ser635Arg)
c.7678A>C (p.Ser2560Arg)
c.7597A>C (p.Ser2533Arg)
n.6948A>C
c.7606A>C (p.Ser2536Arg)
c.7483A>C (p.Ser2495Arg)
n.1733A>C
c.5089A>C (p.Ser1697Arg)
c.7702A>C (p.Ser2568Arg)
c.5512A>C (p.Ser1838Arg)
c.5188A>C (p.Ser1730Arg)
11g.118503498A>GCA382806168KMT2Ac.7705A>G (p.Ser2569Gly)
c.7696A>G (p.Ser2566Gly)
c.1645A>G (p.Ser549Gly)
c.1903A>G (p.Ser635Gly)
c.7678A>G (p.Ser2560Gly)
c.7597A>G (p.Ser2533Gly)
n.6948A>G
c.7606A>G (p.Ser2536Gly)
c.7483A>G (p.Ser2495Gly)
n.1733A>G
c.5089A>G (p.Ser1697Gly)
c.7702A>G (p.Ser2568Gly)
c.5512A>G (p.Ser1838Gly)
c.5188A>G (p.Ser1730Gly)
11g.118503498A>TCA382806169KMT2Ac.7705A>T (p.Ser2569Cys)
c.7696A>T (p.Ser2566Cys)
c.1645A>T (p.Ser549Cys)
c.1903A>T (p.Ser635Cys)
c.7678A>T (p.Ser2560Cys)
c.7597A>T (p.Ser2533Cys)
n.6948A>T
c.7606A>T (p.Ser2536Cys)
c.7483A>T (p.Ser2495Cys)
n.1733A>T
c.5089A>T (p.Ser1697Cys)
c.7702A>T (p.Ser2568Cys)
c.5512A>T (p.Ser1838Cys)
c.5188A>T (p.Ser1730Cys)
11g.118503499G>ACA382806170KMT2Ac.7706G>A (p.Ser2569Asn)
c.7697G>A (p.Ser2566Asn)
c.1646G>A (p.Ser549Asn)
c.1904G>A (p.Ser635Asn)
c.7679G>A (p.Ser2560Asn)
c.7598G>A (p.Ser2533Asn)
n.6949G>A
c.7607G>A (p.Ser2536Asn)
c.7484G>A (p.Ser2495Asn)
n.1734G>A
c.5090G>A (p.Ser1697Asn)
c.7703G>A (p.Ser2568Asn)
c.5513G>A (p.Ser1838Asn)
c.5189G>A (p.Ser1730Asn)
ClinVar dbSNP
11g.118503499G>CCA382806172KMT2Ac.7706G>C (p.Ser2569Thr)
c.7697G>C (p.Ser2566Thr)
c.1646G>C (p.Ser549Thr)
c.1904G>C (p.Ser635Thr)
c.7679G>C (p.Ser2560Thr)
c.7598G>C (p.Ser2533Thr)
n.6949G>C
c.7607G>C (p.Ser2536Thr)
c.7484G>C (p.Ser2495Thr)
n.1734G>C
c.5090G>C (p.Ser1697Thr)
c.7703G>C (p.Ser2568Thr)
c.5513G>C (p.Ser1838Thr)
c.5189G>C (p.Ser1730Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503499G=CA2003527956KMT2Ac.7706G= (p.Ser2569=)
c.7697G= (p.Ser2566=)
c.1646G= (p.Ser549=)
c.1904G= (p.Ser635=)
c.7679G= (p.Ser2560=)
c.7598G= (p.Ser2533=)
n.6949G=
c.7607G= (p.Ser2536=)
c.7484G= (p.Ser2495=)
n.1734G=
c.5090G= (p.Ser1697=)
c.7703G= (p.Ser2568=)
c.5513G= (p.Ser1838=)
c.5189G= (p.Ser1730=)
11g.118503499G>TCA382806171KMT2Ac.7706G>T (p.Ser2569Ile)
c.7697G>T (p.Ser2566Ile)
c.1646G>T (p.Ser549Ile)
c.1904G>T (p.Ser635Ile)
c.7679G>T (p.Ser2560Ile)
c.7598G>T (p.Ser2533Ile)
n.6949G>T
c.7607G>T (p.Ser2536Ile)
c.7484G>T (p.Ser2495Ile)
n.1734G>T
c.5090G>T (p.Ser1697Ile)
c.7703G>T (p.Ser2568Ile)
c.5513G>T (p.Ser1838Ile)
c.5189G>T (p.Ser1730Ile)
11g.118503500T>ACA382806174KMT2Ac.7707T>A (p.Ser2569Arg)
c.7698T>A (p.Ser2566Arg)
c.1647T>A (p.Ser549Arg)
c.1905T>A (p.Ser635Arg)
c.7680T>A (p.Ser2560Arg)
c.7599T>A (p.Ser2533Arg)
n.6950T>A
c.7608T>A (p.Ser2536Arg)
c.7485T>A (p.Ser2495Arg)
n.1735T>A
c.5091T>A (p.Ser1697Arg)
c.7704T>A (p.Ser2568Arg)
c.5514T>A (p.Ser1838Arg)
c.5190T>A (p.Ser1730Arg)
dbSNP
11g.118503500T>CCA477359811KMT2Ac.7707T>C (p.Ser2569=)
c.7698T>C (p.Ser2566=)
c.1647T>C (p.Ser549=)
c.1905T>C (p.Ser635=)
c.7680T>C (p.Ser2560=)
c.7599T>C (p.Ser2533=)
n.6950T>C
c.7608T>C (p.Ser2536=)
c.7485T>C (p.Ser2495=)
n.1735T>C
c.5091T>C (p.Ser1697=)
c.7704T>C (p.Ser2568=)
c.5514T>C (p.Ser1838=)
c.5190T>C (p.Ser1730=)
11g.118503500T>GCA382806175KMT2Ac.7707T>G (p.Ser2569Arg)
c.7698T>G (p.Ser2566Arg)
c.1647T>G (p.Ser549Arg)
c.1905T>G (p.Ser635Arg)
c.7680T>G (p.Ser2560Arg)
c.7599T>G (p.Ser2533Arg)
n.6950T>G
c.7608T>G (p.Ser2536Arg)
c.7485T>G (p.Ser2495Arg)
n.1735T>G
c.5091T>G (p.Ser1697Arg)
c.7704T>G (p.Ser2568Arg)
c.5514T>G (p.Ser1838Arg)
c.5190T>G (p.Ser1730Arg)
11g.118503501C>ACA382806178KMT2Ac.7708C>A (p.Gln2570Lys)
c.7699C>A (p.Gln2567Lys)
c.1648C>A (p.Gln550Lys)
c.1906C>A (p.Gln636Lys)
c.7681C>A (p.Gln2561Lys)
c.7600C>A (p.Gln2534Lys)
n.6951C>A
c.7609C>A (p.Gln2537Lys)
c.7486C>A (p.Gln2496Lys)
n.1736C>A
c.5092C>A (p.Gln1698Lys)
c.7705C>A (p.Gln2569Lys)
c.5515C>A (p.Gln1839Lys)
c.5191C>A (p.Gln1731Lys)
11g.118503501C=CA2003527958KMT2Ac.7708C= (p.Gln2570=)
c.7699C= (p.Gln2567=)
c.1648C= (p.Gln550=)
c.1906C= (p.Gln636=)
c.7681C= (p.Gln2561=)
c.7600C= (p.Gln2534=)
n.6951C=
c.7609C= (p.Gln2537=)
c.7486C= (p.Gln2496=)
n.1736C=
c.5092C= (p.Gln1698=)
c.7705C= (p.Gln2569=)
c.5515C= (p.Gln1839=)
c.5191C= (p.Gln1731=)
11g.118503501C>GCA382806179KMT2Ac.7708C>G (p.Gln2570Glu)
c.7699C>G (p.Gln2567Glu)
c.1648C>G (p.Gln550Glu)
c.1906C>G (p.Gln636Glu)
c.7681C>G (p.Gln2561Glu)
c.7600C>G (p.Gln2534Glu)
n.6951C>G
c.7609C>G (p.Gln2537Glu)
c.7486C>G (p.Gln2496Glu)
n.1736C>G
c.5092C>G (p.Gln1698Glu)
c.7705C>G (p.Gln2569Glu)
c.5515C>G (p.Gln1839Glu)
c.5191C>G (p.Gln1731Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118503501C>TCA382806180KMT2Ac.7708C>T (p.Gln2570Ter)
c.7699C>T (p.Gln2567Ter)
c.1648C>T (p.Gln550Ter)
c.1906C>T (p.Gln636Ter)
c.7681C>T (p.Gln2561Ter)
c.7600C>T (p.Gln2534Ter)
n.6951C>T
c.7609C>T (p.Gln2537Ter)
c.7486C>T (p.Gln2496Ter)
n.1736C>T
c.5092C>T (p.Gln1698Ter)
c.7705C>T (p.Gln2569Ter)
c.5515C>T (p.Gln1839Ter)
c.5191C>T (p.Gln1731Ter)
11g.118503502A>CCA382806183KMT2Ac.7709A>C (p.Gln2570Pro)
c.7700A>C (p.Gln2567Pro)
c.1649A>C (p.Gln550Pro)
c.1907A>C (p.Gln636Pro)
c.7682A>C (p.Gln2561Pro)
c.7601A>C (p.Gln2534Pro)
n.6952A>C
c.7610A>C (p.Gln2537Pro)
c.7487A>C (p.Gln2496Pro)
n.1737A>C
c.5093A>C (p.Gln1698Pro)
c.7706A>C (p.Gln2569Pro)
c.5516A>C (p.Gln1839Pro)
c.5192A>C (p.Gln1731Pro)
11g.118503502A>GCA382806184KMT2Ac.7709A>G (p.Gln2570Arg)
c.7700A>G (p.Gln2567Arg)
c.1649A>G (p.Gln550Arg)
c.1907A>G (p.Gln636Arg)
c.7682A>G (p.Gln2561Arg)
c.7601A>G (p.Gln2534Arg)
n.6952A>G
c.7610A>G (p.Gln2537Arg)
c.7487A>G (p.Gln2496Arg)
n.1737A>G
c.5093A>G (p.Gln1698Arg)
c.7706A>G (p.Gln2569Arg)
c.5516A>G (p.Gln1839Arg)
c.5192A>G (p.Gln1731Arg)
gnomAD v4
11g.118503502A>TCA382806185KMT2Ac.7709A>T (p.Gln2570Leu)
c.7700A>T (p.Gln2567Leu)
c.1649A>T (p.Gln550Leu)
c.1907A>T (p.Gln636Leu)
c.7682A>T (p.Gln2561Leu)
c.7601A>T (p.Gln2534Leu)
n.6952A>T
c.7610A>T (p.Gln2537Leu)
c.7487A>T (p.Gln2496Leu)
n.1737A>T
c.5093A>T (p.Gln1698Leu)
c.7706A>T (p.Gln2569Leu)
c.5516A>T (p.Gln1839Leu)
c.5192A>T (p.Gln1731Leu)
11g.118503503A>CCA382806188KMT2Ac.7710A>C (p.Gln2570His)
c.7701A>C (p.Gln2567His)
c.1650A>C (p.Gln550His)
c.1908A>C (p.Gln636His)
c.7683A>C (p.Gln2561His)
c.7602A>C (p.Gln2534His)
n.6953A>C
c.7611A>C (p.Gln2537His)
c.7488A>C (p.Gln2496His)
n.1738A>C
c.5094A>C (p.Gln1698His)
c.7707A>C (p.Gln2569His)
c.5517A>C (p.Gln1839His)
c.5193A>C (p.Gln1731His)
11g.118503503A>GCA477359815KMT2Ac.7710A>G (p.Gln2570=)
c.7701A>G (p.Gln2567=)
c.1650A>G (p.Gln550=)
c.1908A>G (p.Gln636=)
c.7683A>G (p.Gln2561=)
c.7602A>G (p.Gln2534=)
n.6953A>G
c.7611A>G (p.Gln2537=)
c.7488A>G (p.Gln2496=)
n.1738A>G
c.5094A>G (p.Gln1698=)
c.7707A>G (p.Gln2569=)
c.5517A>G (p.Gln1839=)
c.5193A>G (p.Gln1731=)
11g.118503503A>TCA382806190KMT2Ac.7710A>T (p.Gln2570His)
c.7701A>T (p.Gln2567His)
c.1650A>T (p.Gln550His)
c.1908A>T (p.Gln636His)
c.7683A>T (p.Gln2561His)
c.7602A>T (p.Gln2534His)
n.6953A>T
c.7611A>T (p.Gln2537His)
c.7488A>T (p.Gln2496His)
n.1738A>T
c.5094A>T (p.Gln1698His)
c.7707A>T (p.Gln2569His)
c.5517A>T (p.Gln1839His)
c.5193A>T (p.Gln1731His)
11g.118503504T>ACA382806191KMT2Ac.7711T>A (p.Ser2571Thr)
c.7702T>A (p.Ser2568Thr)
c.1651T>A (p.Ser551Thr)
c.1909T>A (p.Ser637Thr)
c.7684T>A (p.Ser2562Thr)
c.7603T>A (p.Ser2535Thr)
n.6954T>A
c.7612T>A (p.Ser2538Thr)
c.7489T>A (p.Ser2497Thr)
n.1739T>A
c.5095T>A (p.Ser1699Thr)
c.7708T>A (p.Ser2570Thr)
c.5518T>A (p.Ser1840Thr)
c.5194T>A (p.Ser1732Thr)
11g.118503504T>CCA382806193KMT2Ac.7711T>C (p.Ser2571Pro)
c.7702T>C (p.Ser2568Pro)
c.1651T>C (p.Ser551Pro)
c.1909T>C (p.Ser637Pro)
c.7684T>C (p.Ser2562Pro)
c.7603T>C (p.Ser2535Pro)
n.6954T>C
c.7612T>C (p.Ser2538Pro)
c.7489T>C (p.Ser2497Pro)
n.1739T>C
c.5095T>C (p.Ser1699Pro)
c.7708T>C (p.Ser2570Pro)
c.5518T>C (p.Ser1840Pro)
c.5194T>C (p.Ser1732Pro)
11g.118503504T>GCA382806195KMT2Ac.7711T>G (p.Ser2571Ala)
c.7702T>G (p.Ser2568Ala)
c.1651T>G (p.Ser551Ala)
c.1909T>G (p.Ser637Ala)
c.7684T>G (p.Ser2562Ala)
c.7603T>G (p.Ser2535Ala)
n.6954T>G
c.7612T>G (p.Ser2538Ala)
c.7489T>G (p.Ser2497Ala)
n.1739T>G
c.5095T>G (p.Ser1699Ala)
c.7708T>G (p.Ser2570Ala)
c.5518T>G (p.Ser1840Ala)
c.5194T>G (p.Ser1732Ala)
11g.118503505C>ACA6304415KMT2Ac.7712C>A (p.Ser2571Tyr)
c.7703C>A (p.Ser2568Tyr)
c.1652C>A (p.Ser551Tyr)
c.1910C>A (p.Ser637Tyr)
c.7685C>A (p.Ser2562Tyr)
c.7604C>A (p.Ser2535Tyr)
n.6955C>A
c.7613C>A (p.Ser2538Tyr)
c.7490C>A (p.Ser2497Tyr)
n.1740C>A
c.5096C>A (p.Ser1699Tyr)
c.7709C>A (p.Ser2570Tyr)
c.5519C>A (p.Ser1840Tyr)
c.5195C>A (p.Ser1732Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503505C=CA2003527961KMT2Ac.7712C= (p.Ser2571=)
c.7703C= (p.Ser2568=)
c.1652C= (p.Ser551=)
c.1910C= (p.Ser637=)
c.7685C= (p.Ser2562=)
c.7604C= (p.Ser2535=)
n.6955C=
c.7613C= (p.Ser2538=)
c.7490C= (p.Ser2497=)
n.1740C=
c.5096C= (p.Ser1699=)
c.7709C= (p.Ser2570=)
c.5519C= (p.Ser1840=)
c.5195C= (p.Ser1732=)
11g.118503505C>GCA382806197KMT2Ac.7712C>G (p.Ser2571Cys)
c.7703C>G (p.Ser2568Cys)
c.1652C>G (p.Ser551Cys)
c.1910C>G (p.Ser637Cys)
c.7685C>G (p.Ser2562Cys)
c.7604C>G (p.Ser2535Cys)
n.6955C>G
c.7613C>G (p.Ser2538Cys)
c.7490C>G (p.Ser2497Cys)
n.1740C>G
c.5096C>G (p.Ser1699Cys)
c.7709C>G (p.Ser2570Cys)
c.5519C>G (p.Ser1840Cys)
c.5195C>G (p.Ser1732Cys)
dbSNP
11g.118503505C>TCA382806199KMT2Ac.7712C>T (p.Ser2571Phe)
c.7703C>T (p.Ser2568Phe)
c.1652C>T (p.Ser551Phe)
c.1910C>T (p.Ser637Phe)
c.7685C>T (p.Ser2562Phe)
c.7604C>T (p.Ser2535Phe)
n.6955C>T
c.7613C>T (p.Ser2538Phe)
c.7490C>T (p.Ser2497Phe)
n.1740C>T
c.5096C>T (p.Ser1699Phe)
c.7709C>T (p.Ser2570Phe)
c.5519C>T (p.Ser1840Phe)
c.5195C>T (p.Ser1732Phe)
gnomAD v4
11g.118503506delCA2739291572KMT2Ac.7713del (p.Asn2573MetfsTer3)
c.7704del (p.Asn2570MetfsTer3)
c.1653del (p.Asn553MetfsTer3)
c.1911del (p.Asn639MetfsTer3)
c.7686del (p.Asn2564MetfsTer3)
c.7605del (p.Asn2537MetfsTer3)
n.6956del
c.7614del (p.Asn2540MetfsTer3)
c.7491del (p.Asn2499MetfsTer3)
n.1741del
c.5097del (p.Asn1701MetfsTer3)
c.7710del (p.Asn2572MetfsTer3)
c.5520del (p.Asn1842MetfsTer3)
c.5196del (p.Asn1734MetfsTer3)
11g.118503506C>ACA477359820KMT2Ac.7713C>A (p.Ser2571=)
c.7704C>A (p.Ser2568=)
c.1653C>A (p.Ser551=)
c.1911C>A (p.Ser637=)
c.7686C>A (p.Ser2562=)
c.7605C>A (p.Ser2535=)
n.6956C>A
c.7614C>A (p.Ser2538=)
c.7491C>A (p.Ser2497=)
n.1741C>A
c.5097C>A (p.Ser1699=)
c.7710C>A (p.Ser2570=)
c.5520C>A (p.Ser1840=)
c.5196C>A (p.Ser1732=)
11g.118503506C>GCA477359821KMT2Ac.7713C>G (p.Ser2571=)
c.7704C>G (p.Ser2568=)
c.1653C>G (p.Ser551=)
c.1911C>G (p.Ser637=)
c.7686C>G (p.Ser2562=)
c.7605C>G (p.Ser2535=)
n.6956C>G
c.7614C>G (p.Ser2538=)
c.7491C>G (p.Ser2497=)
n.1741C>G
c.5097C>G (p.Ser1699=)
c.7710C>G (p.Ser2570=)
c.5520C>G (p.Ser1840=)
c.5196C>G (p.Ser1732=)
11g.118503506C>TCA477359822KMT2Ac.7713C>T (p.Ser2571=)
c.7704C>T (p.Ser2568=)
c.1653C>T (p.Ser551=)
c.1911C>T (p.Ser637=)
c.7686C>T (p.Ser2562=)
c.7605C>T (p.Ser2535=)
n.6956C>T
c.7614C>T (p.Ser2538=)
c.7491C>T (p.Ser2497=)
n.1741C>T
c.5097C>T (p.Ser1699=)
c.7710C>T (p.Ser2570=)
c.5520C>T (p.Ser1840=)
c.5196C>T (p.Ser1732=)
gnomAD v4
11g.118503507A>CCA382806201KMT2Ac.7714A>C (p.Lys2572Gln)
c.7705A>C (p.Lys2569Gln)
c.1654A>C (p.Lys552Gln)
c.1912A>C (p.Lys638Gln)
c.7687A>C (p.Lys2563Gln)
c.7606A>C (p.Lys2536Gln)
n.6957A>C
c.7615A>C (p.Lys2539Gln)
c.7492A>C (p.Lys2498Gln)
n.1742A>C
c.5098A>C (p.Lys1700Gln)
c.7711A>C (p.Lys2571Gln)
c.5521A>C (p.Lys1841Gln)
c.5197A>C (p.Lys1733Gln)
11g.118503507A>GCA382806203KMT2Ac.7714A>G (p.Lys2572Glu)
c.7705A>G (p.Lys2569Glu)
c.1654A>G (p.Lys552Glu)
c.1912A>G (p.Lys638Glu)
c.7687A>G (p.Lys2563Glu)
c.7606A>G (p.Lys2536Glu)
n.6957A>G
c.7615A>G (p.Lys2539Glu)
c.7492A>G (p.Lys2498Glu)
n.1742A>G
c.5098A>G (p.Lys1700Glu)
c.7711A>G (p.Lys2571Glu)
c.5521A>G (p.Lys1841Glu)
c.5197A>G (p.Lys1733Glu)
11g.118503507A>TCA382806205KMT2Ac.7714A>T (p.Lys2572Ter)
c.7705A>T (p.Lys2569Ter)
c.1654A>T (p.Lys552Ter)
c.1912A>T (p.Lys638Ter)
c.7687A>T (p.Lys2563Ter)
c.7606A>T (p.Lys2536Ter)
n.6957A>T
c.7615A>T (p.Lys2539Ter)
c.7492A>T (p.Lys2498Ter)
n.1742A>T
c.5098A>T (p.Lys1700Ter)
c.7711A>T (p.Lys2571Ter)
c.5521A>T (p.Lys1841Ter)
c.5197A>T (p.Lys1733Ter)
11g.118503511delCA2725065776KMT2Ac.7718del (p.Asn2573MetfsTer3)
c.7709del (p.Asn2570MetfsTer3)
c.1658del (p.Asn553MetfsTer3)
c.1916del (p.Asn639MetfsTer3)
c.7691del (p.Asn2564MetfsTer3)
c.7610del (p.Asn2537MetfsTer3)
n.6961del
c.7619del (p.Asn2540MetfsTer3)
c.7496del (p.Asn2499MetfsTer3)
n.1746del
c.5102del (p.Asn1701MetfsTer3)
c.7715del (p.Asn2572MetfsTer3)
c.5525del (p.Asn1842MetfsTer3)
c.5201del (p.Asn1734MetfsTer3)
dbSNP
11g.118503508A>CCA382806207KMT2Ac.7715A>C (p.Lys2572Thr)
c.7706A>C (p.Lys2569Thr)
c.1655A>C (p.Lys552Thr)
c.1913A>C (p.Lys638Thr)
c.7688A>C (p.Lys2563Thr)
c.7607A>C (p.Lys2536Thr)
n.6958A>C
c.7616A>C (p.Lys2539Thr)
c.7493A>C (p.Lys2498Thr)
n.1743A>C
c.5099A>C (p.Lys1700Thr)
c.7712A>C (p.Lys2571Thr)
c.5522A>C (p.Lys1841Thr)
c.5198A>C (p.Lys1733Thr)
11g.118503508A>GCA382806208KMT2Ac.7715A>G (p.Lys2572Arg)
c.7706A>G (p.Lys2569Arg)
c.1655A>G (p.Lys552Arg)
c.1913A>G (p.Lys638Arg)
c.7688A>G (p.Lys2563Arg)
c.7607A>G (p.Lys2536Arg)
n.6958A>G
c.7616A>G (p.Lys2539Arg)
c.7493A>G (p.Lys2498Arg)
n.1743A>G
c.5099A>G (p.Lys1700Arg)
c.7712A>G (p.Lys2571Arg)
c.5522A>G (p.Lys1841Arg)
c.5198A>G (p.Lys1733Arg)
11g.118503508A>TCA382806210KMT2Ac.7715A>T (p.Lys2572Ile)
c.7706A>T (p.Lys2569Ile)
c.1655A>T (p.Lys552Ile)
c.1913A>T (p.Lys638Ile)
c.7688A>T (p.Lys2563Ile)
c.7607A>T (p.Lys2536Ile)
n.6958A>T
c.7616A>T (p.Lys2539Ile)
c.7493A>T (p.Lys2498Ile)
n.1743A>T
c.5099A>T (p.Lys1700Ile)
c.7712A>T (p.Lys2571Ile)
c.5522A>T (p.Lys1841Ile)
c.5198A>T (p.Lys1733Ile)
11g.118503509A>CCA382806212KMT2Ac.7716A>C (p.Lys2572Asn)
c.7707A>C (p.Lys2569Asn)
c.1656A>C (p.Lys552Asn)
c.1914A>C (p.Lys638Asn)
c.7689A>C (p.Lys2563Asn)
c.7608A>C (p.Lys2536Asn)
n.6959A>C
c.7617A>C (p.Lys2539Asn)
c.7494A>C (p.Lys2498Asn)
n.1744A>C
c.5100A>C (p.Lys1700Asn)
c.7713A>C (p.Lys2571Asn)
c.5523A>C (p.Lys1841Asn)
c.5199A>C (p.Lys1733Asn)
11g.118503509A>GCA477359824KMT2Ac.7716A>G (p.Lys2572=)
c.7707A>G (p.Lys2569=)
c.1656A>G (p.Lys552=)
c.1914A>G (p.Lys638=)
c.7689A>G (p.Lys2563=)
c.7608A>G (p.Lys2536=)
n.6959A>G
c.7617A>G (p.Lys2539=)
c.7494A>G (p.Lys2498=)
n.1744A>G
c.5100A>G (p.Lys1700=)
c.7713A>G (p.Lys2571=)
c.5523A>G (p.Lys1841=)
c.5199A>G (p.Lys1733=)
11g.118503509A>TCA382806213KMT2Ac.7716A>T (p.Lys2572Asn)
c.7707A>T (p.Lys2569Asn)
c.1656A>T (p.Lys552Asn)
c.1914A>T (p.Lys638Asn)
c.7689A>T (p.Lys2563Asn)
c.7608A>T (p.Lys2536Asn)
n.6959A>T
c.7617A>T (p.Lys2539Asn)
c.7494A>T (p.Lys2498Asn)
n.1744A>T
c.5100A>T (p.Lys1700Asn)
c.7713A>T (p.Lys2571Asn)
c.5523A>T (p.Lys1841Asn)
c.5199A>T (p.Lys1733Asn)
11g.118503509_118503510insCACACCCAACACCA2793815462KMT2Ac.7716_7717insCACACCCAACAC (p.Lys2572_Asn2573insHisThrGlnHis)
c.7707_7708insCACACCCAACAC (p.Lys2569_Asn2570insHisThrGlnHis)
c.1656_1657insCACACCCAACAC (p.Lys552_Asn553insHisThrGlnHis)
c.1914_1915insCACACCCAACAC (p.Lys638_Asn639insHisThrGlnHis)
c.7689_7690insCACACCCAACAC (p.Lys2563_Asn2564insHisThrGlnHis)
c.7608_7609insCACACCCAACAC (p.Lys2536_Asn2537insHisThrGlnHis)
n.6959_6960insCACACCCAACAC
c.7617_7618insCACACCCAACAC (p.Lys2539_Asn2540insHisThrGlnHis)
c.7494_7495insCACACCCAACAC (p.Lys2498_Asn2499insHisThrGlnHis)
n.1744_1745insCACACCCAACAC
c.5100_5101insCACACCCAACAC (p.Lys1700_Asn1701insHisThrGlnHis)
c.7713_7714insCACACCCAACAC (p.Lys2571_Asn2572insHisThrGlnHis)
c.5523_5524insCACACCCAACAC (p.Lys1841_Asn1842insHisThrGlnHis)
c.5199_5200insCACACCCAACAC (p.Lys1733_Asn1734insHisThrGlnHis)
11g.118503510A>CCA382806215KMT2Ac.7717A>C (p.Asn2573His)
c.7708A>C (p.Asn2570His)
c.1657A>C (p.Asn553His)
c.1915A>C (p.Asn639His)
c.7690A>C (p.Asn2564His)
c.7609A>C (p.Asn2537His)
n.6960A>C
c.7618A>C (p.Asn2540His)
c.7495A>C (p.Asn2499His)
n.1745A>C
c.5101A>C (p.Asn1701His)
c.7714A>C (p.Asn2572His)
c.5524A>C (p.Asn1842His)
c.5200A>C (p.Asn1734His)
11g.118503510A>GCA382806217KMT2Ac.7717A>G (p.Asn2573Asp)
c.7708A>G (p.Asn2570Asp)
c.1657A>G (p.Asn553Asp)
c.1915A>G (p.Asn639Asp)
c.7690A>G (p.Asn2564Asp)
c.7609A>G (p.Asn2537Asp)
n.6960A>G
c.7618A>G (p.Asn2540Asp)
c.7495A>G (p.Asn2499Asp)
n.1745A>G
c.5101A>G (p.Asn1701Asp)
c.7714A>G (p.Asn2572Asp)
c.5524A>G (p.Asn1842Asp)
c.5200A>G (p.Asn1734Asp)
11g.118503510A>TCA382806218KMT2Ac.7717A>T (p.Asn2573Tyr)
c.7708A>T (p.Asn2570Tyr)
c.1657A>T (p.Asn553Tyr)
c.1915A>T (p.Asn639Tyr)
c.7690A>T (p.Asn2564Tyr)
c.7609A>T (p.Asn2537Tyr)
n.6960A>T
c.7618A>T (p.Asn2540Tyr)
c.7495A>T (p.Asn2499Tyr)
n.1745A>T
c.5101A>T (p.Asn1701Tyr)
c.7714A>T (p.Asn2572Tyr)
c.5524A>T (p.Asn1842Tyr)
c.5200A>T (p.Asn1734Tyr)
11g.118503511A>CCA382806222KMT2Ac.7718A>C (p.Asn2573Thr)
c.7709A>C (p.Asn2570Thr)
c.1658A>C (p.Asn553Thr)
c.1916A>C (p.Asn639Thr)
c.7691A>C (p.Asn2564Thr)
c.7610A>C (p.Asn2537Thr)
n.6961A>C
c.7619A>C (p.Asn2540Thr)
c.7496A>C (p.Asn2499Thr)
n.1746A>C
c.5102A>C (p.Asn1701Thr)
c.7715A>C (p.Asn2572Thr)
c.5525A>C (p.Asn1842Thr)
c.5201A>C (p.Asn1734Thr)
11g.118503511A>GCA382806223KMT2Ac.7718A>G (p.Asn2573Ser)
c.7709A>G (p.Asn2570Ser)
c.1658A>G (p.Asn553Ser)
c.1916A>G (p.Asn639Ser)
c.7691A>G (p.Asn2564Ser)
c.7610A>G (p.Asn2537Ser)
n.6961A>G
c.7619A>G (p.Asn2540Ser)
c.7496A>G (p.Asn2499Ser)
n.1746A>G
c.5102A>G (p.Asn1701Ser)
c.7715A>G (p.Asn2572Ser)
c.5525A>G (p.Asn1842Ser)
c.5201A>G (p.Asn1734Ser)
11g.118503511A>TCA382806220KMT2Ac.7718A>T (p.Asn2573Ile)
c.7709A>T (p.Asn2570Ile)
c.1658A>T (p.Asn553Ile)
c.1916A>T (p.Asn639Ile)
c.7691A>T (p.Asn2564Ile)
c.7610A>T (p.Asn2537Ile)
n.6961A>T
c.7619A>T (p.Asn2540Ile)
c.7496A>T (p.Asn2499Ile)
n.1746A>T
c.5102A>T (p.Asn1701Ile)
c.7715A>T (p.Asn2572Ile)
c.5525A>T (p.Asn1842Ile)
c.5201A>T (p.Asn1734Ile)
11g.118503512T>ACA382806225KMT2Ac.7719T>A (p.Asn2573Lys)
c.7710T>A (p.Asn2570Lys)
c.1659T>A (p.Asn553Lys)
c.1917T>A (p.Asn639Lys)
c.7692T>A (p.Asn2564Lys)
c.7611T>A (p.Asn2537Lys)
n.6962T>A
c.7620T>A (p.Asn2540Lys)
c.7497T>A (p.Asn2499Lys)
n.1747T>A
c.5103T>A (p.Asn1701Lys)
c.7716T>A (p.Asn2572Lys)
c.5526T>A (p.Asn1842Lys)
c.5202T>A (p.Asn1734Lys)
11g.118503512T>CCA477359831KMT2Ac.7719T>C (p.Asn2573=)
c.7710T>C (p.Asn2570=)
c.1659T>C (p.Asn553=)
c.1917T>C (p.Asn639=)
c.7692T>C (p.Asn2564=)
c.7611T>C (p.Asn2537=)
n.6962T>C
c.7620T>C (p.Asn2540=)
c.7497T>C (p.Asn2499=)
n.1747T>C
c.5103T>C (p.Asn1701=)
c.7716T>C (p.Asn2572=)
c.5526T>C (p.Asn1842=)
c.5202T>C (p.Asn1734=)
dbSNP
11g.118503512T>GCA382806226KMT2Ac.7719T>G (p.Asn2573Lys)
c.7710T>G (p.Asn2570Lys)
c.1659T>G (p.Asn553Lys)
c.1917T>G (p.Asn639Lys)
c.7692T>G (p.Asn2564Lys)
c.7611T>G (p.Asn2537Lys)
n.6962T>G
c.7620T>G (p.Asn2540Lys)
c.7497T>G (p.Asn2499Lys)
n.1747T>G
c.5103T>G (p.Asn1701Lys)
c.7716T>G (p.Asn2572Lys)
c.5526T>G (p.Asn1842Lys)
c.5202T>G (p.Asn1734Lys)
11g.118503513G>ACA382806228KMT2Ac.7720G>A (p.Ala2574Thr)
c.7711G>A (p.Ala2571Thr)
c.1660G>A (p.Ala554Thr)
c.1918G>A (p.Ala640Thr)
c.7693G>A (p.Ala2565Thr)
c.7612G>A (p.Ala2538Thr)
n.6963G>A
c.7621G>A (p.Ala2541Thr)
c.7498G>A (p.Ala2500Thr)
n.1748G>A
c.5104G>A (p.Ala1702Thr)
c.7717G>A (p.Ala2573Thr)
c.5527G>A (p.Ala1843Thr)
c.5203G>A (p.Ala1735Thr)
11g.118503513G>CCA382806230KMT2Ac.7720G>C (p.Ala2574Pro)
c.7711G>C (p.Ala2571Pro)
c.1660G>C (p.Ala554Pro)
c.1918G>C (p.Ala640Pro)
c.7693G>C (p.Ala2565Pro)
c.7612G>C (p.Ala2538Pro)
n.6963G>C
c.7621G>C (p.Ala2541Pro)
c.7498G>C (p.Ala2500Pro)
n.1748G>C
c.5104G>C (p.Ala1702Pro)
c.7717G>C (p.Ala2573Pro)
c.5527G>C (p.Ala1843Pro)
c.5203G>C (p.Ala1735Pro)
11g.118503513G>TCA382806231KMT2Ac.7720G>T (p.Ala2574Ser)
c.7711G>T (p.Ala2571Ser)
c.1660G>T (p.Ala554Ser)
c.1918G>T (p.Ala640Ser)
c.7693G>T (p.Ala2565Ser)
c.7612G>T (p.Ala2538Ser)
n.6963G>T
c.7621G>T (p.Ala2541Ser)
c.7498G>T (p.Ala2500Ser)
n.1748G>T
c.5104G>T (p.Ala1702Ser)
c.7717G>T (p.Ala2573Ser)
c.5527G>T (p.Ala1843Ser)
c.5203G>T (p.Ala1735Ser)
COSMIC COSMIC
11g.118503514C>ACA382806233KMT2Ac.7721C>A (p.Ala2574Asp)
c.7712C>A (p.Ala2571Asp)
c.1661C>A (p.Ala554Asp)
c.1919C>A (p.Ala640Asp)
c.7694C>A (p.Ala2565Asp)
c.7613C>A (p.Ala2538Asp)
n.6964C>A
c.7622C>A (p.Ala2541Asp)
c.7499C>A (p.Ala2500Asp)
n.1749C>A
c.5105C>A (p.Ala1702Asp)
c.7718C>A (p.Ala2573Asp)
c.5528C>A (p.Ala1843Asp)
c.5204C>A (p.Ala1735Asp)
11g.118503514C>GCA382806234KMT2Ac.7721C>G (p.Ala2574Gly)
c.7712C>G (p.Ala2571Gly)
c.1661C>G (p.Ala554Gly)
c.1919C>G (p.Ala640Gly)
c.7694C>G (p.Ala2565Gly)
c.7613C>G (p.Ala2538Gly)
n.6964C>G
c.7622C>G (p.Ala2541Gly)
c.7499C>G (p.Ala2500Gly)
n.1749C>G
c.5105C>G (p.Ala1702Gly)
c.7718C>G (p.Ala2573Gly)
c.5528C>G (p.Ala1843Gly)
c.5204C>G (p.Ala1735Gly)
11g.118503514C>TCA382806236KMT2Ac.7721C>T (p.Ala2574Val)
c.7712C>T (p.Ala2571Val)
c.1661C>T (p.Ala554Val)
c.1919C>T (p.Ala640Val)
c.7694C>T (p.Ala2565Val)
c.7613C>T (p.Ala2538Val)
n.6964C>T
c.7622C>T (p.Ala2541Val)
c.7499C>T (p.Ala2500Val)
n.1749C>T
c.5105C>T (p.Ala1702Val)
c.7718C>T (p.Ala2573Val)
c.5528C>T (p.Ala1843Val)
c.5204C>T (p.Ala1735Val)
dbSNP
11g.118503515C>ACA477359837KMT2Ac.7722C>A (p.Ala2574=)
c.7713C>A (p.Ala2571=)
c.1662C>A (p.Ala554=)
c.1920C>A (p.Ala640=)
c.7695C>A (p.Ala2565=)
c.7614C>A (p.Ala2538=)
n.6965C>A
c.7623C>A (p.Ala2541=)
c.7500C>A (p.Ala2500=)
n.1750C>A
c.5106C>A (p.Ala1702=)
c.7719C>A (p.Ala2573=)
c.5529C>A (p.Ala1843=)
c.5205C>A (p.Ala1735=)
dbSNP
11g.118503515C>GCA477359838KMT2Ac.7722C>G (p.Ala2574=)
c.7713C>G (p.Ala2571=)
c.1662C>G (p.Ala554=)
c.1920C>G (p.Ala640=)
c.7695C>G (p.Ala2565=)
c.7614C>G (p.Ala2538=)
n.6965C>G
c.7623C>G (p.Ala2541=)
c.7500C>G (p.Ala2500=)
n.1750C>G
c.5106C>G (p.Ala1702=)
c.7719C>G (p.Ala2573=)
c.5529C>G (p.Ala1843=)
c.5205C>G (p.Ala1735=)
11g.118503515C>TCA477359839KMT2Ac.7722C>T (p.Ala2574=)
c.7713C>T (p.Ala2571=)
c.1662C>T (p.Ala554=)
c.1920C>T (p.Ala640=)
c.7695C>T (p.Ala2565=)
c.7614C>T (p.Ala2538=)
n.6965C>T
c.7623C>T (p.Ala2541=)
c.7500C>T (p.Ala2500=)
n.1750C>T
c.5106C>T (p.Ala1702=)
c.7719C>T (p.Ala2573=)
c.5529C>T (p.Ala1843=)
c.5205C>T (p.Ala1735=)
11g.118503516C>ACA382806238KMT2Ac.7723C>A (p.Leu2575Met)
c.7714C>A (p.Leu2572Met)
c.1663C>A (p.Leu555Met)
c.1921C>A (p.Leu641Met)
c.7696C>A (p.Leu2566Met)
c.7615C>A (p.Leu2539Met)
n.6966C>A
c.7624C>A (p.Leu2542Met)
c.7501C>A (p.Leu2501Met)
n.1751C>A
c.5107C>A (p.Leu1703Met)
c.7720C>A (p.Leu2574Met)
c.5530C>A (p.Leu1844Met)
c.5206C>A (p.Leu1736Met)
11g.118503516C=CA2003527963KMT2Ac.7723C= (p.Leu2575=)
c.7714C= (p.Leu2572=)
c.1663C= (p.Leu555=)
c.1921C= (p.Leu641=)
c.7696C= (p.Leu2566=)
c.7615C= (p.Leu2539=)
n.6966C=
c.7624C= (p.Leu2542=)
c.7501C= (p.Leu2501=)
n.1751C=
c.5107C= (p.Leu1703=)
c.7720C= (p.Leu2574=)
c.5530C= (p.Leu1844=)
c.5206C= (p.Leu1736=)
11g.118503516C>GCA382806240KMT2Ac.7723C>G (p.Leu2575Val)
c.7714C>G (p.Leu2572Val)
c.1663C>G (p.Leu555Val)
c.1921C>G (p.Leu641Val)
c.7696C>G (p.Leu2566Val)
c.7615C>G (p.Leu2539Val)
n.6966C>G
c.7624C>G (p.Leu2542Val)
c.7501C>G (p.Leu2501Val)
n.1751C>G
c.5107C>G (p.Leu1703Val)
c.7720C>G (p.Leu2574Val)
c.5530C>G (p.Leu1844Val)
c.5206C>G (p.Leu1736Val)
dbSNP gnomAD v3 gnomAD v4
11g.118503516C>TCA477359842KMT2Ac.7723C>T (p.Leu2575=)
c.7714C>T (p.Leu2572=)
c.1663C>T (p.Leu555=)
c.1921C>T (p.Leu641=)
c.7696C>T (p.Leu2566=)
c.7615C>T (p.Leu2539=)
n.6966C>T
c.7624C>T (p.Leu2542=)
c.7501C>T (p.Leu2501=)
n.1751C>T
c.5107C>T (p.Leu1703=)
c.7720C>T (p.Leu2574=)
c.5530C>T (p.Leu1844=)
c.5206C>T (p.Leu1736=)
11g.118503517T>ACA382806242KMT2Ac.7724T>A (p.Leu2575Gln)
c.7715T>A (p.Leu2572Gln)
c.1664T>A (p.Leu555Gln)
c.1922T>A (p.Leu641Gln)
c.7697T>A (p.Leu2566Gln)
c.7616T>A (p.Leu2539Gln)
n.6967T>A
c.7625T>A (p.Leu2542Gln)
c.7502T>A (p.Leu2501Gln)
n.1752T>A
c.5108T>A (p.Leu1703Gln)
c.7721T>A (p.Leu2574Gln)
c.5531T>A (p.Leu1844Gln)
c.5207T>A (p.Leu1736Gln)
11g.118503517T>CCA382806243KMT2Ac.7724T>C (p.Leu2575Pro)
c.7715T>C (p.Leu2572Pro)
c.1664T>C (p.Leu555Pro)
c.1922T>C (p.Leu641Pro)
c.7697T>C (p.Leu2566Pro)
c.7616T>C (p.Leu2539Pro)
n.6967T>C
c.7625T>C (p.Leu2542Pro)
c.7502T>C (p.Leu2501Pro)
n.1752T>C
c.5108T>C (p.Leu1703Pro)
c.7721T>C (p.Leu2574Pro)
c.5531T>C (p.Leu1844Pro)
c.5207T>C (p.Leu1736Pro)
11g.118503517T>GCA382806245KMT2Ac.7724T>G (p.Leu2575Arg)
c.7715T>G (p.Leu2572Arg)
c.1664T>G (p.Leu555Arg)
c.1922T>G (p.Leu641Arg)
c.7697T>G (p.Leu2566Arg)
c.7616T>G (p.Leu2539Arg)
n.6967T>G
c.7625T>G (p.Leu2542Arg)
c.7502T>G (p.Leu2501Arg)
n.1752T>G
c.5108T>G (p.Leu1703Arg)
c.7721T>G (p.Leu2574Arg)
c.5531T>G (p.Leu1844Arg)
c.5207T>G (p.Leu1736Arg)
11g.118503518G>ACA477359848KMT2Ac.7725G>A (p.Leu2575=)
c.7716G>A (p.Leu2572=)
c.1665G>A (p.Leu555=)
c.1923G>A (p.Leu641=)
c.7698G>A (p.Leu2566=)
c.7617G>A (p.Leu2539=)
n.6968G>A
c.7626G>A (p.Leu2542=)
c.7503G>A (p.Leu2501=)
n.1753G>A
c.5109G>A (p.Leu1703=)
c.7722G>A (p.Leu2574=)
c.5532G>A (p.Leu1844=)
c.5208G>A (p.Leu1736=)
dbSNP
11g.118503518G>CCA477359847KMT2Ac.7725G>C (p.Leu2575=)
c.7716G>C (p.Leu2572=)
c.1665G>C (p.Leu555=)
c.1923G>C (p.Leu641=)
c.7698G>C (p.Leu2566=)
c.7617G>C (p.Leu2539=)
n.6968G>C
c.7626G>C (p.Leu2542=)
c.7503G>C (p.Leu2501=)
n.1753G>C
c.5109G>C (p.Leu1703=)
c.7722G>C (p.Leu2574=)
c.5532G>C (p.Leu1844=)
c.5208G>C (p.Leu1736=)
dbSNP
11g.118503518G>TCA477359846KMT2Ac.7725G>T (p.Leu2575=)
c.7716G>T (p.Leu2572=)
c.1665G>T (p.Leu555=)
c.1923G>T (p.Leu641=)
c.7698G>T (p.Leu2566=)
c.7617G>T (p.Leu2539=)
n.6968G>T
c.7626G>T (p.Leu2542=)
c.7503G>T (p.Leu2501=)
n.1753G>T
c.5109G>T (p.Leu1703=)
c.7722G>T (p.Leu2574=)
c.5532G>T (p.Leu1844=)
c.5208G>T (p.Leu1736=)
11g.118503519A>CCA382806250KMT2Ac.7726A>C (p.Lys2576Gln)
c.7717A>C (p.Lys2573Gln)
c.1666A>C (p.Lys556Gln)
c.1924A>C (p.Lys642Gln)
c.7699A>C (p.Lys2567Gln)
c.7618A>C (p.Lys2540Gln)
n.6969A>C
c.7627A>C (p.Lys2543Gln)
c.7504A>C (p.Lys2502Gln)
n.1754A>C
c.5110A>C (p.Lys1704Gln)
c.7723A>C (p.Lys2575Gln)
c.5533A>C (p.Lys1845Gln)
c.5209A>C (p.Lys1737Gln)
11g.118503519A>GCA382806249KMT2Ac.7726A>G (p.Lys2576Glu)
c.7717A>G (p.Lys2573Glu)
c.1666A>G (p.Lys556Glu)
c.1924A>G (p.Lys642Glu)
c.7699A>G (p.Lys2567Glu)
c.7618A>G (p.Lys2540Glu)
n.6969A>G
c.7627A>G (p.Lys2543Glu)
c.7504A>G (p.Lys2502Glu)
n.1754A>G
c.5110A>G (p.Lys1704Glu)
c.7723A>G (p.Lys2575Glu)
c.5533A>G (p.Lys1845Glu)
c.5209A>G (p.Lys1737Glu)
11g.118503519A>TCA382806247KMT2Ac.7726A>T (p.Lys2576Ter)
c.7717A>T (p.Lys2573Ter)
c.1666A>T (p.Lys556Ter)
c.1924A>T (p.Lys642Ter)
c.7699A>T (p.Lys2567Ter)
c.7618A>T (p.Lys2540Ter)
n.6969A>T
c.7627A>T (p.Lys2543Ter)
c.7504A>T (p.Lys2502Ter)
n.1754A>T
c.5110A>T (p.Lys1704Ter)
c.7723A>T (p.Lys2575Ter)
c.5533A>T (p.Lys1845Ter)
c.5209A>T (p.Lys1737Ter)
dbSNP
11g.118503520A>CCA382806252KMT2Ac.7727A>C (p.Lys2576Thr)
c.7718A>C (p.Lys2573Thr)
c.1667A>C (p.Lys556Thr)
c.1925A>C (p.Lys642Thr)
c.7700A>C (p.Lys2567Thr)
c.7619A>C (p.Lys2540Thr)
n.6970A>C
c.7628A>C (p.Lys2543Thr)
c.7505A>C (p.Lys2502Thr)
n.1755A>C
c.5111A>C (p.Lys1704Thr)
c.7724A>C (p.Lys2575Thr)
c.5534A>C (p.Lys1845Thr)
c.5210A>C (p.Lys1737Thr)
11g.118503520A>GCA382806254KMT2Ac.7727A>G (p.Lys2576Arg)
c.7718A>G (p.Lys2573Arg)
c.1667A>G (p.Lys556Arg)
c.1925A>G (p.Lys642Arg)
c.7700A>G (p.Lys2567Arg)
c.7619A>G (p.Lys2540Arg)
n.6970A>G
c.7628A>G (p.Lys2543Arg)
c.7505A>G (p.Lys2502Arg)
n.1755A>G
c.5111A>G (p.Lys1704Arg)
c.7724A>G (p.Lys2575Arg)
c.5534A>G (p.Lys1845Arg)
c.5210A>G (p.Lys1737Arg)
ClinVar
11g.118503520A>TCA382806255KMT2Ac.7727A>T (p.Lys2576Ile)
c.7718A>T (p.Lys2573Ile)
c.1667A>T (p.Lys556Ile)
c.1925A>T (p.Lys642Ile)
c.7700A>T (p.Lys2567Ile)
c.7619A>T (p.Lys2540Ile)
n.6970A>T
c.7628A>T (p.Lys2543Ile)
c.7505A>T (p.Lys2502Ile)
n.1755A>T
c.5111A>T (p.Lys1704Ile)
c.7724A>T (p.Lys2575Ile)
c.5534A>T (p.Lys1845Ile)
c.5210A>T (p.Lys1737Ile)
11g.118503521A>CCA382806256KMT2Ac.7728A>C (p.Lys2576Asn)
c.7719A>C (p.Lys2573Asn)
c.1668A>C (p.Lys556Asn)
c.1926A>C (p.Lys642Asn)
c.7701A>C (p.Lys2567Asn)
c.7620A>C (p.Lys2540Asn)
n.6971A>C
c.7629A>C (p.Lys2543Asn)
c.7506A>C (p.Lys2502Asn)
n.1756A>C
c.5112A>C (p.Lys1704Asn)
c.7725A>C (p.Lys2575Asn)
c.5535A>C (p.Lys1845Asn)
c.5211A>C (p.Lys1737Asn)
11g.118503521A>GCA477359854KMT2Ac.7728A>G (p.Lys2576=)
c.7719A>G (p.Lys2573=)
c.1668A>G (p.Lys556=)
c.1926A>G (p.Lys642=)
c.7701A>G (p.Lys2567=)
c.7620A>G (p.Lys2540=)
n.6971A>G
c.7629A>G (p.Lys2543=)
c.7506A>G (p.Lys2502=)
n.1756A>G
c.5112A>G (p.Lys1704=)
c.7725A>G (p.Lys2575=)
c.5535A>G (p.Lys1845=)
c.5211A>G (p.Lys1737=)
11g.118503521A>TCA382806257KMT2Ac.7728A>T (p.Lys2576Asn)
c.7719A>T (p.Lys2573Asn)
c.1668A>T (p.Lys556Asn)
c.1926A>T (p.Lys642Asn)
c.7701A>T (p.Lys2567Asn)
c.7620A>T (p.Lys2540Asn)
n.6971A>T
c.7629A>T (p.Lys2543Asn)
c.7506A>T (p.Lys2502Asn)
n.1756A>T
c.5112A>T (p.Lys1704Asn)
c.7725A>T (p.Lys2575Asn)
c.5535A>T (p.Lys1845Asn)
c.5211A>T (p.Lys1737Asn)
11g.118503522G>ACA382806259KMT2Ac.7729G>A (p.Glu2577Lys)
c.7720G>A (p.Glu2574Lys)
c.1669G>A (p.Glu557Lys)
c.1927G>A (p.Glu643Lys)
c.7702G>A (p.Glu2568Lys)
c.7621G>A (p.Glu2541Lys)
n.6972G>A
c.7630G>A (p.Glu2544Lys)
c.7507G>A (p.Glu2503Lys)
n.1757G>A
c.5113G>A (p.Glu1705Lys)
c.7726G>A (p.Glu2576Lys)
c.5536G>A (p.Glu1846Lys)
c.5212G>A (p.Glu1738Lys)
11g.118503522G>CCA382806260KMT2Ac.7729G>C (p.Glu2577Gln)
c.7720G>C (p.Glu2574Gln)
c.1669G>C (p.Glu557Gln)
c.1927G>C (p.Glu643Gln)
c.7702G>C (p.Glu2568Gln)
c.7621G>C (p.Glu2541Gln)
n.6972G>C
c.7630G>C (p.Glu2544Gln)
c.7507G>C (p.Glu2503Gln)
n.1757G>C
c.5113G>C (p.Glu1705Gln)
c.7726G>C (p.Glu2576Gln)
c.5536G>C (p.Glu1846Gln)
c.5212G>C (p.Glu1738Gln)
dbSNP
11g.118503522G>TCA382806261KMT2Ac.7729G>T (p.Glu2577Ter)
c.7720G>T (p.Glu2574Ter)
c.1669G>T (p.Glu557Ter)
c.1927G>T (p.Glu643Ter)
c.7702G>T (p.Glu2568Ter)
c.7621G>T (p.Glu2541Ter)
n.6972G>T
c.7630G>T (p.Glu2544Ter)
c.7507G>T (p.Glu2503Ter)
n.1757G>T
c.5113G>T (p.Glu1705Ter)
c.7726G>T (p.Glu2576Ter)
c.5536G>T (p.Glu1846Ter)
c.5212G>T (p.Glu1738Ter)
11g.118503523A=CA2003527967KMT2Ac.7730A= (p.Glu2577=)
c.7721A= (p.Glu2574=)
c.1670A= (p.Glu557=)
c.1928A= (p.Glu643=)
c.7703A= (p.Glu2568=)
c.7622A= (p.Glu2541=)
n.6973A=
c.7631A= (p.Glu2544=)
c.7508A= (p.Glu2503=)
n.1758A=
c.5114A= (p.Glu1705=)
c.7727A= (p.Glu2576=)
c.5537A= (p.Glu1846=)
c.5213A= (p.Glu1738=)
11g.118503523A>CCA382806263KMT2Ac.7730A>C (p.Glu2577Ala)
c.7721A>C (p.Glu2574Ala)
c.1670A>C (p.Glu557Ala)
c.1928A>C (p.Glu643Ala)
c.7703A>C (p.Glu2568Ala)
c.7622A>C (p.Glu2541Ala)
n.6973A>C
c.7631A>C (p.Glu2544Ala)
c.7508A>C (p.Glu2503Ala)
n.1758A>C
c.5114A>C (p.Glu1705Ala)
c.7727A>C (p.Glu2576Ala)
c.5537A>C (p.Glu1846Ala)
c.5213A>C (p.Glu1738Ala)
11g.118503523A>GCA382806265KMT2Ac.7730A>G (p.Glu2577Gly)
c.7721A>G (p.Glu2574Gly)
c.1670A>G (p.Glu557Gly)
c.1928A>G (p.Glu643Gly)
c.7703A>G (p.Glu2568Gly)
c.7622A>G (p.Glu2541Gly)
n.6973A>G
c.7631A>G (p.Glu2544Gly)
c.7508A>G (p.Glu2503Gly)
n.1758A>G
c.5114A>G (p.Glu1705Gly)
c.7727A>G (p.Glu2576Gly)
c.5537A>G (p.Glu1846Gly)
c.5213A>G (p.Glu1738Gly)
11g.118503523A>TCA6304416KMT2Ac.7730A>T (p.Glu2577Val)
c.7721A>T (p.Glu2574Val)
c.1670A>T (p.Glu557Val)
c.1928A>T (p.Glu643Val)
c.7703A>T (p.Glu2568Val)
c.7622A>T (p.Glu2541Val)
n.6973A>T
c.7631A>T (p.Glu2544Val)
c.7508A>T (p.Glu2503Val)
n.1758A>T
c.5114A>T (p.Glu1705Val)
c.7727A>T (p.Glu2576Val)
c.5537A>T (p.Glu1846Val)
c.5213A>T (p.Glu1738Val)
dbSNP ExAC gnomAD v4
11g.118503524A>CCA382806266KMT2Ac.7731A>C (p.Glu2577Asp)
c.7722A>C (p.Glu2574Asp)
c.1671A>C (p.Glu557Asp)
c.1929A>C (p.Glu643Asp)
c.7704A>C (p.Glu2568Asp)
c.7623A>C (p.Glu2541Asp)
n.6974A>C
c.7632A>C (p.Glu2544Asp)
c.7509A>C (p.Glu2503Asp)
n.1759A>C
c.5115A>C (p.Glu1705Asp)
c.7728A>C (p.Glu2576Asp)
c.5538A>C (p.Glu1846Asp)
c.5214A>C (p.Glu1738Asp)
11g.118503524A>GCA477359857KMT2Ac.7731A>G (p.Glu2577=)
c.7722A>G (p.Glu2574=)
c.1671A>G (p.Glu557=)
c.1929A>G (p.Glu643=)
c.7704A>G (p.Glu2568=)
c.7623A>G (p.Glu2541=)
n.6974A>G
c.7632A>G (p.Glu2544=)
c.7509A>G (p.Glu2503=)
n.1759A>G
c.5115A>G (p.Glu1705=)
c.7728A>G (p.Glu2576=)
c.5538A>G (p.Glu1846=)
c.5214A>G (p.Glu1738=)
11g.118503524A>TCA382806267KMT2Ac.7731A>T (p.Glu2577Asp)
c.7722A>T (p.Glu2574Asp)
c.1671A>T (p.Glu557Asp)
c.1929A>T (p.Glu643Asp)
c.7704A>T (p.Glu2568Asp)
c.7623A>T (p.Glu2541Asp)
n.6974A>T
c.7632A>T (p.Glu2544Asp)
c.7509A>T (p.Glu2503Asp)
n.1759A>T
c.5115A>T (p.Glu1705Asp)
c.7728A>T (p.Glu2576Asp)
c.5538A>T (p.Glu1846Asp)
c.5214A>T (p.Glu1738Asp)
11g.118503525A>CCA382806270KMT2Ac.7732A>C (p.Ser2578Arg)
c.7723A>C (p.Ser2575Arg)
c.1672A>C (p.Ser558Arg)
c.1930A>C (p.Ser644Arg)
c.7705A>C (p.Ser2569Arg)
c.7624A>C (p.Ser2542Arg)
n.6975A>C
c.7633A>C (p.Ser2545Arg)
c.7510A>C (p.Ser2504Arg)
n.1760A>C
c.5116A>C (p.Ser1706Arg)
c.7729A>C (p.Ser2577Arg)
c.5539A>C (p.Ser1847Arg)
c.5215A>C (p.Ser1739Arg)
11g.118503525A>GCA382806269KMT2Ac.7732A>G (p.Ser2578Gly)
c.7723A>G (p.Ser2575Gly)
c.1672A>G (p.Ser558Gly)
c.1930A>G (p.Ser644Gly)
c.7705A>G (p.Ser2569Gly)
c.7624A>G (p.Ser2542Gly)
n.6975A>G
c.7633A>G (p.Ser2545Gly)
c.7510A>G (p.Ser2504Gly)
n.1760A>G
c.5116A>G (p.Ser1706Gly)
c.7729A>G (p.Ser2577Gly)
c.5539A>G (p.Ser1847Gly)
c.5215A>G (p.Ser1739Gly)
gnomAD v4
11g.118503525A>TCA382806268KMT2Ac.7732A>T (p.Ser2578Cys)
c.7723A>T (p.Ser2575Cys)
c.1672A>T (p.Ser558Cys)
c.1930A>T (p.Ser644Cys)
c.7705A>T (p.Ser2569Cys)
c.7624A>T (p.Ser2542Cys)
n.6975A>T
c.7633A>T (p.Ser2545Cys)
c.7510A>T (p.Ser2504Cys)
n.1760A>T
c.5116A>T (p.Ser1706Cys)
c.7729A>T (p.Ser2577Cys)
c.5539A>T (p.Ser1847Cys)
c.5215A>T (p.Ser1739Cys)
ClinVar dbSNP gnomAD v4
11g.118503526G>ACA382806271KMT2Ac.7733G>A (p.Ser2578Asn)
c.7724G>A (p.Ser2575Asn)
c.1673G>A (p.Ser558Asn)
c.1931G>A (p.Ser644Asn)
c.7706G>A (p.Ser2569Asn)
c.7625G>A (p.Ser2542Asn)
n.6976G>A
c.7634G>A (p.Ser2545Asn)
c.7511G>A (p.Ser2504Asn)
n.1761G>A
c.5117G>A (p.Ser1706Asn)
c.7730G>A (p.Ser2577Asn)
c.5540G>A (p.Ser1847Asn)
c.5216G>A (p.Ser1739Asn)
11g.118503526G>CCA382806274KMT2Ac.7733G>C (p.Ser2578Thr)
c.7724G>C (p.Ser2575Thr)
c.1673G>C (p.Ser558Thr)
c.1931G>C (p.Ser644Thr)
c.7706G>C (p.Ser2569Thr)
c.7625G>C (p.Ser2542Thr)
n.6976G>C
c.7634G>C (p.Ser2545Thr)
c.7511G>C (p.Ser2504Thr)
n.1761G>C
c.5117G>C (p.Ser1706Thr)
c.7730G>C (p.Ser2577Thr)
c.5540G>C (p.Ser1847Thr)
c.5216G>C (p.Ser1739Thr)
11g.118503526G>TCA382806272KMT2Ac.7733G>T (p.Ser2578Ile)
c.7724G>T (p.Ser2575Ile)
c.1673G>T (p.Ser558Ile)
c.1931G>T (p.Ser644Ile)
c.7706G>T (p.Ser2569Ile)
c.7625G>T (p.Ser2542Ile)
n.6976G>T
c.7634G>T (p.Ser2545Ile)
c.7511G>T (p.Ser2504Ile)
n.1761G>T
c.5117G>T (p.Ser1706Ile)
c.7730G>T (p.Ser2577Ile)
c.5540G>T (p.Ser1847Ile)
c.5216G>T (p.Ser1739Ile)
11g.118503527T>ACA382806276KMT2Ac.7734T>A (p.Ser2578Arg)
c.7725T>A (p.Ser2575Arg)
c.1674T>A (p.Ser558Arg)
c.1932T>A (p.Ser644Arg)
c.7707T>A (p.Ser2569Arg)
c.7626T>A (p.Ser2542Arg)
n.6977T>A
c.7635T>A (p.Ser2545Arg)
c.7512T>A (p.Ser2504Arg)
n.1762T>A
c.5118T>A (p.Ser1706Arg)
c.7731T>A (p.Ser2577Arg)
c.5541T>A (p.Ser1847Arg)
c.5217T>A (p.Ser1739Arg)
dbSNP
11g.118503527T>CCA229526934KMT2Ac.7734T>C (p.Ser2578=)
c.7725T>C (p.Ser2575=)
c.1674T>C (p.Ser558=)
c.1932T>C (p.Ser644=)
c.7707T>C (p.Ser2569=)
c.7626T>C (p.Ser2542=)
n.6977T>C
c.7635T>C (p.Ser2545=)
c.7512T>C (p.Ser2504=)
n.1762T>C
c.5118T>C (p.Ser1706=)
c.7731T>C (p.Ser2577=)
c.5541T>C (p.Ser1847=)
c.5217T>C (p.Ser1739=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503527T>GCA382806277KMT2Ac.7734T>G (p.Ser2578Arg)
c.7725T>G (p.Ser2575Arg)
c.1674T>G (p.Ser558Arg)
c.1932T>G (p.Ser644Arg)
c.7707T>G (p.Ser2569Arg)
c.7626T>G (p.Ser2542Arg)
n.6977T>G
c.7635T>G (p.Ser2545Arg)
c.7512T>G (p.Ser2504Arg)
n.1762T>G
c.5118T>G (p.Ser1706Arg)
c.7731T>G (p.Ser2577Arg)
c.5541T>G (p.Ser1847Arg)
c.5217T>G (p.Ser1739Arg)
11g.118503527T=CA2003527971KMT2Ac.7734T= (p.Ser2578=)
c.7725T= (p.Ser2575=)
c.1674T= (p.Ser558=)
c.1932T= (p.Ser644=)
c.7707T= (p.Ser2569=)
c.7626T= (p.Ser2542=)
n.6977T=
c.7635T= (p.Ser2545=)
c.7512T= (p.Ser2504=)
n.1762T=
c.5118T= (p.Ser1706=)
c.7731T= (p.Ser2577=)
c.5541T= (p.Ser1847=)
c.5217T= (p.Ser1739=)
11g.118503528A=CA2003527976KMT2Ac.7735A= (p.Ser2579=)
c.7726A= (p.Ser2576=)
c.1675A= (p.Ser559=)
c.1933A= (p.Ser645=)
c.7708A= (p.Ser2570=)
c.7627A= (p.Ser2543=)
n.6978A=
c.7636A= (p.Ser2546=)
c.7513A= (p.Ser2505=)
n.1763A=
c.5119A= (p.Ser1707=)
c.7732A= (p.Ser2578=)
c.5542A= (p.Ser1848=)
c.5218A= (p.Ser1740=)
11g.118503528A>CCA382806280KMT2Ac.7735A>C (p.Ser2579Arg)
c.7726A>C (p.Ser2576Arg)
c.1675A>C (p.Ser559Arg)
c.1933A>C (p.Ser645Arg)
c.7708A>C (p.Ser2570Arg)
c.7627A>C (p.Ser2543Arg)
n.6978A>C
c.7636A>C (p.Ser2546Arg)
c.7513A>C (p.Ser2505Arg)
n.1763A>C
c.5119A>C (p.Ser1707Arg)
c.7732A>C (p.Ser2578Arg)
c.5542A>C (p.Ser1848Arg)
c.5218A>C (p.Ser1740Arg)
11g.118503528A>GCA382806283KMT2Ac.7735A>G (p.Ser2579Gly)
c.7726A>G (p.Ser2576Gly)
c.1675A>G (p.Ser559Gly)
c.1933A>G (p.Ser645Gly)
c.7708A>G (p.Ser2570Gly)
c.7627A>G (p.Ser2543Gly)
n.6978A>G
c.7636A>G (p.Ser2546Gly)
c.7513A>G (p.Ser2505Gly)
n.1763A>G
c.5119A>G (p.Ser1707Gly)
c.7732A>G (p.Ser2578Gly)
c.5542A>G (p.Ser1848Gly)
c.5218A>G (p.Ser1740Gly)
dbSNP gnomAD v3 gnomAD v4
11g.118503528A>TCA382806282KMT2Ac.7735A>T (p.Ser2579Cys)
c.7726A>T (p.Ser2576Cys)
c.1675A>T (p.Ser559Cys)
c.1933A>T (p.Ser645Cys)
c.7708A>T (p.Ser2570Cys)
c.7627A>T (p.Ser2543Cys)
n.6978A>T
c.7636A>T (p.Ser2546Cys)
c.7513A>T (p.Ser2505Cys)
n.1763A>T
c.5119A>T (p.Ser1707Cys)
c.7732A>T (p.Ser2578Cys)
c.5542A>T (p.Ser1848Cys)
c.5218A>T (p.Ser1740Cys)
11g.118503529G>ACA382806285KMT2Ac.7736G>A (p.Ser2579Asn)
c.7727G>A (p.Ser2576Asn)
c.1676G>A (p.Ser559Asn)
c.1934G>A (p.Ser645Asn)
c.7709G>A (p.Ser2570Asn)
c.7628G>A (p.Ser2543Asn)
n.6979G>A
c.7637G>A (p.Ser2546Asn)
c.7514G>A (p.Ser2505Asn)
n.1764G>A
c.5120G>A (p.Ser1707Asn)
c.7733G>A (p.Ser2578Asn)
c.5543G>A (p.Ser1848Asn)
c.5219G>A (p.Ser1740Asn)
11g.118503529G>CCA382806289KMT2Ac.7736G>C (p.Ser2579Thr)
c.7727G>C (p.Ser2576Thr)
c.1676G>C (p.Ser559Thr)
c.1934G>C (p.Ser645Thr)
c.7709G>C (p.Ser2570Thr)
c.7628G>C (p.Ser2543Thr)
n.6979G>C
c.7637G>C (p.Ser2546Thr)
c.7514G>C (p.Ser2505Thr)
n.1764G>C
c.5120G>C (p.Ser1707Thr)
c.7733G>C (p.Ser2578Thr)
c.5543G>C (p.Ser1848Thr)
c.5219G>C (p.Ser1740Thr)
11g.118503529G>TCA382806287KMT2Ac.7736G>T (p.Ser2579Ile)
c.7727G>T (p.Ser2576Ile)
c.1676G>T (p.Ser559Ile)
c.1934G>T (p.Ser645Ile)
c.7709G>T (p.Ser2570Ile)
c.7628G>T (p.Ser2543Ile)
n.6979G>T
c.7637G>T (p.Ser2546Ile)
c.7514G>T (p.Ser2505Ile)
n.1764G>T
c.5120G>T (p.Ser1707Ile)
c.7733G>T (p.Ser2578Ile)
c.5543G>T (p.Ser1848Ile)
c.5219G>T (p.Ser1740Ile)
11g.118503530T>ACA382806290KMT2Ac.7737T>A (p.Ser2579Arg)
c.7728T>A (p.Ser2576Arg)
c.1677T>A (p.Ser559Arg)
c.1935T>A (p.Ser645Arg)
c.7710T>A (p.Ser2570Arg)
c.7629T>A (p.Ser2543Arg)
n.6980T>A
c.7638T>A (p.Ser2546Arg)
c.7515T>A (p.Ser2505Arg)
n.1765T>A
c.5121T>A (p.Ser1707Arg)
c.7734T>A (p.Ser2578Arg)
c.5544T>A (p.Ser1848Arg)
c.5220T>A (p.Ser1740Arg)
gnomAD v4
11g.118503530T>CCA477359873KMT2Ac.7737T>C (p.Ser2579=)
c.7728T>C (p.Ser2576=)
c.1677T>C (p.Ser559=)
c.1935T>C (p.Ser645=)
c.7710T>C (p.Ser2570=)
c.7629T>C (p.Ser2543=)
n.6980T>C
c.7638T>C (p.Ser2546=)
c.7515T>C (p.Ser2505=)
n.1765T>C
c.5121T>C (p.Ser1707=)
c.7734T>C (p.Ser2578=)
c.5544T>C (p.Ser1848=)
c.5220T>C (p.Ser1740=)
11g.118503530T>GCA382806292KMT2Ac.7737T>G (p.Ser2579Arg)
c.7728T>G (p.Ser2576Arg)
c.1677T>G (p.Ser559Arg)
c.1935T>G (p.Ser645Arg)
c.7710T>G (p.Ser2570Arg)
c.7629T>G (p.Ser2543Arg)
n.6980T>G
c.7638T>G (p.Ser2546Arg)
c.7515T>G (p.Ser2505Arg)
n.1765T>G
c.5121T>G (p.Ser1707Arg)
c.7734T>G (p.Ser2578Arg)
c.5544T>G (p.Ser1848Arg)
c.5220T>G (p.Ser1740Arg)
11g.118503530T=CA2003527977KMT2Ac.7737T= (p.Ser2579=)
c.7728T= (p.Ser2576=)
c.1677T= (p.Ser559=)
c.1935T= (p.Ser645=)
c.7710T= (p.Ser2570=)
c.7629T= (p.Ser2543=)
n.6980T=
c.7638T= (p.Ser2546=)
c.7515T= (p.Ser2505=)
n.1765T=
c.5121T= (p.Ser1707=)
c.7734T= (p.Ser2578=)
c.5544T= (p.Ser1848=)
c.5220T= (p.Ser1740=)
11g.118503531C>ACA382806295KMT2Ac.7738C>A (p.Pro2580Thr)
c.7729C>A (p.Pro2577Thr)
c.1678C>A (p.Pro560Thr)
c.1936C>A (p.Pro646Thr)
c.7711C>A (p.Pro2571Thr)
c.7630C>A (p.Pro2544Thr)
n.6981C>A
c.7639C>A (p.Pro2547Thr)
c.7516C>A (p.Pro2506Thr)
n.1766C>A
c.5122C>A (p.Pro1708Thr)
c.7735C>A (p.Pro2579Thr)
c.5545C>A (p.Pro1849Thr)
c.5221C>A (p.Pro1741Thr)
ClinVar dbSNP
11g.118503531C=CA2003527978KMT2Ac.7738C= (p.Pro2580=)
c.7729C= (p.Pro2577=)
c.1678C= (p.Pro560=)
c.1936C= (p.Pro646=)
c.7711C= (p.Pro2571=)
c.7630C= (p.Pro2544=)
n.6981C=
c.7639C= (p.Pro2547=)
c.7516C= (p.Pro2506=)
n.1766C=
c.5122C= (p.Pro1708=)
c.7735C= (p.Pro2579=)
c.5545C= (p.Pro1849=)
c.5221C= (p.Pro1741=)
11g.118503531C>GCA382806296KMT2Ac.7738C>G (p.Pro2580Ala)
c.7729C>G (p.Pro2577Ala)
c.1678C>G (p.Pro560Ala)
c.1936C>G (p.Pro646Ala)
c.7711C>G (p.Pro2571Ala)
c.7630C>G (p.Pro2544Ala)
n.6981C>G
c.7639C>G (p.Pro2547Ala)
c.7516C>G (p.Pro2506Ala)
n.1766C>G
c.5122C>G (p.Pro1708Ala)
c.7735C>G (p.Pro2579Ala)
c.5545C>G (p.Pro1849Ala)
c.5221C>G (p.Pro1741Ala)
dbSNP
11g.118503531C>TCA382806297KMT2Ac.7738C>T (p.Pro2580Ser)
c.7729C>T (p.Pro2577Ser)
c.1678C>T (p.Pro560Ser)
c.1936C>T (p.Pro646Ser)
c.7711C>T (p.Pro2571Ser)
c.7630C>T (p.Pro2544Ser)
n.6981C>T
c.7639C>T (p.Pro2547Ser)
c.7516C>T (p.Pro2506Ser)
n.1766C>T
c.5122C>T (p.Pro1708Ser)
c.7735C>T (p.Pro2579Ser)
c.5545C>T (p.Pro1849Ser)
c.5221C>T (p.Pro1741Ser)
ClinVar
11g.118503532dupCA918978448KMT2Ac.7739dup (p.Ala2581CysfsTer19)
c.7730dup (p.Ala2578CysfsTer19)
c.1679dup (p.Ala561CysfsTer19)
c.1937dup (p.Ala647CysfsTer19)
c.7712dup (p.Ala2572CysfsTer19)
c.7631dup (p.Ala2545CysfsTer19)
n.6982dup
c.7640dup (p.Ala2548CysfsTer19)
c.7517dup (p.Ala2507CysfsTer19)
n.1767dup
c.5123dup (p.Ala1709CysfsTer19)
c.7736dup (p.Ala2580CysfsTer19)
c.5546dup (p.Ala1850CysfsTer19)
c.5222dup (p.Ala1742CysfsTer19)
dbSNP
11g.118503532C>ACA382806300KMT2Ac.7739C>A (p.Pro2580His)
c.7730C>A (p.Pro2577His)
c.1679C>A (p.Pro560His)
c.1937C>A (p.Pro646His)
c.7712C>A (p.Pro2571His)
c.7631C>A (p.Pro2544His)
n.6982C>A
c.7640C>A (p.Pro2547His)
c.7517C>A (p.Pro2506His)
n.1767C>A
c.5123C>A (p.Pro1708His)
c.7736C>A (p.Pro2579His)
c.5546C>A (p.Pro1849His)
c.5222C>A (p.Pro1741His)
11g.118503532C>GCA382806301KMT2Ac.7739C>G (p.Pro2580Arg)
c.7730C>G (p.Pro2577Arg)
c.1679C>G (p.Pro560Arg)
c.1937C>G (p.Pro646Arg)
c.7712C>G (p.Pro2571Arg)
c.7631C>G (p.Pro2544Arg)
n.6982C>G
c.7640C>G (p.Pro2547Arg)
c.7517C>G (p.Pro2506Arg)
n.1767C>G
c.5123C>G (p.Pro1708Arg)
c.7736C>G (p.Pro2579Arg)
c.5546C>G (p.Pro1849Arg)
c.5222C>G (p.Pro1741Arg)
11g.118503532C>TCA382806303KMT2Ac.7739C>T (p.Pro2580Leu)
c.7730C>T (p.Pro2577Leu)
c.1679C>T (p.Pro560Leu)
c.1937C>T (p.Pro646Leu)
c.7712C>T (p.Pro2571Leu)
c.7631C>T (p.Pro2544Leu)
n.6982C>T
c.7640C>T (p.Pro2547Leu)
c.7517C>T (p.Pro2506Leu)
n.1767C>T
c.5123C>T (p.Pro1708Leu)
c.7736C>T (p.Pro2579Leu)
c.5546C>T (p.Pro1849Leu)
c.5222C>T (p.Pro1741Leu)
dbSNP
11g.118503533T>ACA229526937KMT2Ac.7740T>A (p.Pro2580=)
c.7731T>A (p.Pro2577=)
c.1680T>A (p.Pro560=)
c.1938T>A (p.Pro646=)
c.7713T>A (p.Pro2571=)
c.7632T>A (p.Pro2544=)
n.6983T>A
c.7641T>A (p.Pro2547=)
c.7518T>A (p.Pro2506=)
n.1768T>A
c.5124T>A (p.Pro1708=)
c.7737T>A (p.Pro2579=)
c.5547T>A (p.Pro1849=)
c.5223T>A (p.Pro1741=)
ClinVar dbSNP gnomAD v4
11g.118503533T>CCA477359883KMT2Ac.7740T>C (p.Pro2580=)
c.7731T>C (p.Pro2577=)
c.1680T>C (p.Pro560=)
c.1938T>C (p.Pro646=)
c.7713T>C (p.Pro2571=)
c.7632T>C (p.Pro2544=)
n.6983T>C
c.7641T>C (p.Pro2547=)
c.7518T>C (p.Pro2506=)
n.1768T>C
c.5124T>C (p.Pro1708=)
c.7737T>C (p.Pro2579=)
c.5547T>C (p.Pro1849=)
c.5223T>C (p.Pro1741=)
11g.118503533T>GCA477359880KMT2Ac.7740T>G (p.Pro2580=)
c.7731T>G (p.Pro2577=)
c.1680T>G (p.Pro560=)
c.1938T>G (p.Pro646=)
c.7713T>G (p.Pro2571=)
c.7632T>G (p.Pro2544=)
n.6983T>G
c.7641T>G (p.Pro2547=)
c.7518T>G (p.Pro2506=)
n.1768T>G
c.5124T>G (p.Pro1708=)
c.7737T>G (p.Pro2579=)
c.5547T>G (p.Pro1849=)
c.5223T>G (p.Pro1741=)
dbSNP gnomAD v2 gnomAD v4
11g.118503533T=CA2003527979KMT2Ac.7740T= (p.Pro2580=)
c.7731T= (p.Pro2577=)
c.1680T= (p.Pro560=)
c.1938T= (p.Pro646=)
c.7713T= (p.Pro2571=)
c.7632T= (p.Pro2544=)
n.6983T=
c.7641T= (p.Pro2547=)
c.7518T= (p.Pro2506=)
n.1768T=
c.5124T= (p.Pro1708=)
c.7737T= (p.Pro2579=)
c.5547T= (p.Pro1849=)
c.5223T= (p.Pro1741=)
11g.118503534G>ACA382806307KMT2Ac.7741G>A (p.Ala2581Thr)
c.7732G>A (p.Ala2578Thr)
c.1681G>A (p.Ala561Thr)
c.1939G>A (p.Ala647Thr)
c.7714G>A (p.Ala2572Thr)
c.7633G>A (p.Ala2545Thr)
n.6984G>A
c.7642G>A (p.Ala2548Thr)
c.7519G>A (p.Ala2507Thr)
n.1769G>A
c.5125G>A (p.Ala1709Thr)
c.7738G>A (p.Ala2580Thr)
c.5548G>A (p.Ala1850Thr)
c.5224G>A (p.Ala1742Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503534G>CCA382806310KMT2Ac.7741G>C (p.Ala2581Pro)
c.7732G>C (p.Ala2578Pro)
c.1681G>C (p.Ala561Pro)
c.1939G>C (p.Ala647Pro)
c.7714G>C (p.Ala2572Pro)
c.7633G>C (p.Ala2545Pro)
n.6984G>C
c.7642G>C (p.Ala2548Pro)
c.7519G>C (p.Ala2507Pro)
n.1769G>C
c.5125G>C (p.Ala1709Pro)
c.7738G>C (p.Ala2580Pro)
c.5548G>C (p.Ala1850Pro)
c.5224G>C (p.Ala1742Pro)
11g.118503534G=CA2003527981KMT2Ac.7741G= (p.Ala2581=)
c.7732G= (p.Ala2578=)
c.1681G= (p.Ala561=)
c.1939G= (p.Ala647=)
c.7714G= (p.Ala2572=)
c.7633G= (p.Ala2545=)
n.6984G=
c.7642G= (p.Ala2548=)
c.7519G= (p.Ala2507=)
n.1769G=
c.5125G= (p.Ala1709=)
c.7738G= (p.Ala2580=)
c.5548G= (p.Ala1850=)
c.5224G= (p.Ala1742=)
11g.118503534G>TCA382806312KMT2Ac.7741G>T (p.Ala2581Ser)
c.7732G>T (p.Ala2578Ser)
c.1681G>T (p.Ala561Ser)
c.1939G>T (p.Ala647Ser)
c.7714G>T (p.Ala2572Ser)
c.7633G>T (p.Ala2545Ser)
n.6984G>T
c.7642G>T (p.Ala2548Ser)
c.7519G>T (p.Ala2507Ser)
n.1769G>T
c.5125G>T (p.Ala1709Ser)
c.7738G>T (p.Ala2580Ser)
c.5548G>T (p.Ala1850Ser)
c.5224G>T (p.Ala1742Ser)
11g.118503534_118503535delinsGCCA2003527980KMT2Ac.7741_7742delinsGC (p.Ala2581=)
c.7732_7733delinsGC (p.Ala2578=)
c.1681_1682delinsGC (p.Ala561=)
c.1939_1940delinsGC (p.Ala647=)
c.7714_7715delinsGC (p.Ala2572=)
c.7633_7634delinsGC (p.Ala2545=)
n.6984_6985delinsGC
c.7642_7643delinsGC (p.Ala2548=)
c.7519_7520delinsGC (p.Ala2507=)
n.1769_1770delinsGC
c.5125_5126delinsGC (p.Ala1709=)
c.7738_7739delinsGC (p.Ala2580=)
c.5548_5549delinsGC (p.Ala1850=)
c.5224_5225delinsGC (p.Ala1742=)
11g.118503535delCA915947784KMT2Ac.7742del (p.Ala2581ValfsTer6)
c.7733del (p.Ala2578ValfsTer6)
c.1682del (p.Ala561ValfsTer6)
c.1940del (p.Ala647ValfsTer6)
c.7715del (p.Ala2572ValfsTer6)
c.7634del (p.Ala2545ValfsTer6)
n.6985del
c.7643del (p.Ala2548ValfsTer6)
c.7520del (p.Ala2507ValfsTer6)
n.1770del
c.5126del (p.Ala1709ValfsTer6)
c.7739del (p.Ala2580ValfsTer6)
c.5549del (p.Ala1850ValfsTer6)
c.5225del (p.Ala1742ValfsTer6)
ClinVar dbSNP
11g.118503535C>ACA382806317KMT2Ac.7742C>A (p.Ala2581Asp)
c.7733C>A (p.Ala2578Asp)
c.1682C>A (p.Ala561Asp)
c.1940C>A (p.Ala647Asp)
c.7715C>A (p.Ala2572Asp)
c.7634C>A (p.Ala2545Asp)
n.6985C>A
c.7643C>A (p.Ala2548Asp)
c.7520C>A (p.Ala2507Asp)
n.1770C>A
c.5126C>A (p.Ala1709Asp)
c.7739C>A (p.Ala2580Asp)
c.5549C>A (p.Ala1850Asp)
c.5225C>A (p.Ala1742Asp)
11g.118503535C>GCA382806316KMT2Ac.7742C>G (p.Ala2581Gly)
c.7733C>G (p.Ala2578Gly)
c.1682C>G (p.Ala561Gly)
c.1940C>G (p.Ala647Gly)
c.7715C>G (p.Ala2572Gly)
c.7634C>G (p.Ala2545Gly)
n.6985C>G
c.7643C>G (p.Ala2548Gly)
c.7520C>G (p.Ala2507Gly)
n.1770C>G
c.5126C>G (p.Ala1709Gly)
c.7739C>G (p.Ala2580Gly)
c.5549C>G (p.Ala1850Gly)
c.5225C>G (p.Ala1742Gly)
11g.118503535C>TCA382806314KMT2Ac.7742C>T (p.Ala2581Val)
c.7733C>T (p.Ala2578Val)
c.1682C>T (p.Ala561Val)
c.1940C>T (p.Ala647Val)
c.7715C>T (p.Ala2572Val)
c.7634C>T (p.Ala2545Val)
n.6985C>T
c.7643C>T (p.Ala2548Val)
c.7520C>T (p.Ala2507Val)
n.1770C>T
c.5126C>T (p.Ala1709Val)
c.7739C>T (p.Ala2580Val)
c.5549C>T (p.Ala1850Val)
c.5225C>T (p.Ala1742Val)
dbSNP gnomAD v4
11g.118503536T>ACA477359886KMT2Ac.7743T>A (p.Ala2581=)
c.7734T>A (p.Ala2578=)
c.1683T>A (p.Ala561=)
c.1941T>A (p.Ala647=)
c.7716T>A (p.Ala2572=)
c.7635T>A (p.Ala2545=)
n.6986T>A
c.7644T>A (p.Ala2548=)
c.7521T>A (p.Ala2507=)
n.1771T>A
c.5127T>A (p.Ala1709=)
c.7740T>A (p.Ala2580=)
c.5550T>A (p.Ala1850=)
c.5226T>A (p.Ala1742=)
11g.118503536T>CCA477359887KMT2Ac.7743T>C (p.Ala2581=)
c.7734T>C (p.Ala2578=)
c.1683T>C (p.Ala561=)
c.1941T>C (p.Ala647=)
c.7716T>C (p.Ala2572=)
c.7635T>C (p.Ala2545=)
n.6986T>C
c.7644T>C (p.Ala2548=)
c.7521T>C (p.Ala2507=)
n.1771T>C
c.5127T>C (p.Ala1709=)
c.7740T>C (p.Ala2580=)
c.5550T>C (p.Ala1850=)
c.5226T>C (p.Ala1742=)
gnomAD v4
11g.118503536T>GCA477359888KMT2Ac.7743T>G (p.Ala2581=)
c.7734T>G (p.Ala2578=)
c.1683T>G (p.Ala561=)
c.1941T>G (p.Ala647=)
c.7716T>G (p.Ala2572=)
c.7635T>G (p.Ala2545=)
n.6986T>G
c.7644T>G (p.Ala2548=)
c.7521T>G (p.Ala2507=)
n.1771T>G
c.5127T>G (p.Ala1709=)
c.7740T>G (p.Ala2580=)
c.5550T>G (p.Ala1850=)
c.5226T>G (p.Ala1742=)
11g.118503537T>ACA382806319KMT2Ac.7744T>A (p.Ser2582Thr)
c.7735T>A (p.Ser2579Thr)
c.1684T>A (p.Ser562Thr)
c.1942T>A (p.Ser648Thr)
c.7717T>A (p.Ser2573Thr)
c.7636T>A (p.Ser2546Thr)
n.6987T>A
c.7645T>A (p.Ser2549Thr)
c.7522T>A (p.Ser2508Thr)
n.1772T>A
c.5128T>A (p.Ser1710Thr)
c.7741T>A (p.Ser2581Thr)
c.5551T>A (p.Ser1851Thr)
c.5227T>A (p.Ser1743Thr)
11g.118503537T>CCA382806321KMT2Ac.7744T>C (p.Ser2582Pro)
c.7735T>C (p.Ser2579Pro)
c.1684T>C (p.Ser562Pro)
c.1942T>C (p.Ser648Pro)
c.7717T>C (p.Ser2573Pro)
c.7636T>C (p.Ser2546Pro)
n.6987T>C
c.7645T>C (p.Ser2549Pro)
c.7522T>C (p.Ser2508Pro)
n.1772T>C
c.5128T>C (p.Ser1710Pro)
c.7741T>C (p.Ser2581Pro)
c.5551T>C (p.Ser1851Pro)
c.5227T>C (p.Ser1743Pro)
11g.118503537T>GCA382806322KMT2Ac.7744T>G (p.Ser2582Ala)
c.7735T>G (p.Ser2579Ala)
c.1684T>G (p.Ser562Ala)
c.1942T>G (p.Ser648Ala)
c.7717T>G (p.Ser2573Ala)
c.7636T>G (p.Ser2546Ala)
n.6987T>G
c.7645T>G (p.Ser2549Ala)
c.7522T>G (p.Ser2508Ala)
n.1772T>G
c.5128T>G (p.Ser1710Ala)
c.7741T>G (p.Ser2581Ala)
c.5551T>G (p.Ser1851Ala)
c.5227T>G (p.Ser1743Ala)
11g.118503538C>ACA382806324KMT2Ac.7745C>A (p.Ser2582Tyr)
c.7736C>A (p.Ser2579Tyr)
c.1685C>A (p.Ser562Tyr)
c.1943C>A (p.Ser648Tyr)
c.7718C>A (p.Ser2573Tyr)
c.7637C>A (p.Ser2546Tyr)
n.6988C>A
c.7646C>A (p.Ser2549Tyr)
c.7523C>A (p.Ser2508Tyr)
n.1773C>A
c.5129C>A (p.Ser1710Tyr)
c.7742C>A (p.Ser2581Tyr)
c.5552C>A (p.Ser1851Tyr)
c.5228C>A (p.Ser1743Tyr)
gnomAD v4
11g.118503538C>GCA382806326KMT2Ac.7745C>G (p.Ser2582Cys)
c.7736C>G (p.Ser2579Cys)
c.1685C>G (p.Ser562Cys)
c.1943C>G (p.Ser648Cys)
c.7718C>G (p.Ser2573Cys)
c.7637C>G (p.Ser2546Cys)
n.6988C>G
c.7646C>G (p.Ser2549Cys)
c.7523C>G (p.Ser2508Cys)
n.1773C>G
c.5129C>G (p.Ser1710Cys)
c.7742C>G (p.Ser2581Cys)
c.5552C>G (p.Ser1851Cys)
c.5228C>G (p.Ser1743Cys)
11g.118503538C>TCA382806328KMT2Ac.7745C>T (p.Ser2582Phe)
c.7736C>T (p.Ser2579Phe)
c.1685C>T (p.Ser562Phe)
c.1943C>T (p.Ser648Phe)
c.7718C>T (p.Ser2573Phe)
c.7637C>T (p.Ser2546Phe)
n.6988C>T
c.7646C>T (p.Ser2549Phe)
c.7523C>T (p.Ser2508Phe)
n.1773C>T
c.5129C>T (p.Ser1710Phe)
c.7742C>T (p.Ser2581Phe)
c.5552C>T (p.Ser1851Phe)
c.5228C>T (p.Ser1743Phe)
dbSNP
11g.118503539C>ACA477359892KMT2Ac.7746C>A (p.Ser2582=)
c.7737C>A (p.Ser2579=)
c.1686C>A (p.Ser562=)
c.1944C>A (p.Ser648=)
c.7719C>A (p.Ser2573=)
c.7638C>A (p.Ser2546=)
n.6989C>A
c.7647C>A (p.Ser2549=)
c.7524C>A (p.Ser2508=)
n.1774C>A
c.5130C>A (p.Ser1710=)
c.7743C>A (p.Ser2581=)
c.5553C>A (p.Ser1851=)
c.5229C>A (p.Ser1743=)
11g.118503539C>GCA477359893KMT2Ac.7746C>G (p.Ser2582=)
c.7737C>G (p.Ser2579=)
c.1686C>G (p.Ser562=)
c.1944C>G (p.Ser648=)
c.7719C>G (p.Ser2573=)
c.7638C>G (p.Ser2546=)
n.6989C>G
c.7647C>G (p.Ser2549=)
c.7524C>G (p.Ser2508=)
n.1774C>G
c.5130C>G (p.Ser1710=)
c.7743C>G (p.Ser2581=)
c.5553C>G (p.Ser1851=)
c.5229C>G (p.Ser1743=)
11g.118503539C>TCA477359894KMT2Ac.7746C>T (p.Ser2582=)
c.7737C>T (p.Ser2579=)
c.1686C>T (p.Ser562=)
c.1944C>T (p.Ser648=)
c.7719C>T (p.Ser2573=)
c.7638C>T (p.Ser2546=)
n.6989C>T
c.7647C>T (p.Ser2549=)
c.7524C>T (p.Ser2508=)
n.1774C>T
c.5130C>T (p.Ser1710=)
c.7743C>T (p.Ser2581=)
c.5553C>T (p.Ser1851=)
c.5229C>T (p.Ser1743=)
dbSNP
11g.118503540C>ACA382806329KMT2Ac.7747C>A (p.Pro2583Thr)
c.7738C>A (p.Pro2580Thr)
c.1687C>A (p.Pro563Thr)
c.1945C>A (p.Pro649Thr)
c.7720C>A (p.Pro2574Thr)
c.7639C>A (p.Pro2547Thr)
n.6990C>A
c.7648C>A (p.Pro2550Thr)
c.7525C>A (p.Pro2509Thr)
n.1775C>A
c.5131C>A (p.Pro1711Thr)
c.7744C>A (p.Pro2582Thr)
c.5554C>A (p.Pro1852Thr)
c.5230C>A (p.Pro1744Thr)
11g.118503540C=CA2003527983KMT2Ac.7747C= (p.Pro2583=)
c.7738C= (p.Pro2580=)
c.1687C= (p.Pro563=)
c.1945C= (p.Pro649=)
c.7720C= (p.Pro2574=)
c.7639C= (p.Pro2547=)
n.6990C=
c.7648C= (p.Pro2550=)
c.7525C= (p.Pro2509=)
n.1775C=
c.5131C= (p.Pro1711=)
c.7744C= (p.Pro2582=)
c.5554C= (p.Pro1852=)
c.5230C= (p.Pro1744=)
11g.118503540C>GCA382806331KMT2Ac.7747C>G (p.Pro2583Ala)
c.7738C>G (p.Pro2580Ala)
c.1687C>G (p.Pro563Ala)
c.1945C>G (p.Pro649Ala)
c.7720C>G (p.Pro2574Ala)
c.7639C>G (p.Pro2547Ala)
n.6990C>G
c.7648C>G (p.Pro2550Ala)
c.7525C>G (p.Pro2509Ala)
n.1775C>G
c.5131C>G (p.Pro1711Ala)
c.7744C>G (p.Pro2582Ala)
c.5554C>G (p.Pro1852Ala)
c.5230C>G (p.Pro1744Ala)
11g.118503540C>TCA382806333KMT2Ac.7747C>T (p.Pro2583Ser)
c.7738C>T (p.Pro2580Ser)
c.1687C>T (p.Pro563Ser)
c.1945C>T (p.Pro649Ser)
c.7720C>T (p.Pro2574Ser)
c.7639C>T (p.Pro2547Ser)
n.6990C>T
c.7648C>T (p.Pro2550Ser)
c.7525C>T (p.Pro2509Ser)
n.1775C>T
c.5131C>T (p.Pro1711Ser)
c.7744C>T (p.Pro2582Ser)
c.5554C>T (p.Pro1852Ser)
c.5230C>T (p.Pro1744Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503541C>ACA382806334KMT2Ac.7748C>A (p.Pro2583His)
c.7739C>A (p.Pro2580His)
c.1688C>A (p.Pro563His)
c.1946C>A (p.Pro649His)
c.7721C>A (p.Pro2574His)
c.7640C>A (p.Pro2547His)
n.6991C>A
c.7649C>A (p.Pro2550His)
c.7526C>A (p.Pro2509His)
n.1776C>A
c.5132C>A (p.Pro1711His)
c.7745C>A (p.Pro2582His)
c.5555C>A (p.Pro1852His)
c.5231C>A (p.Pro1744His)
11g.118503541C=CA2003527984KMT2Ac.7748C= (p.Pro2583=)
c.7739C= (p.Pro2580=)
c.1688C= (p.Pro563=)
c.1946C= (p.Pro649=)
c.7721C= (p.Pro2574=)
c.7640C= (p.Pro2547=)
n.6991C=
c.7649C= (p.Pro2550=)
c.7526C= (p.Pro2509=)
n.1776C=
c.5132C= (p.Pro1711=)
c.7745C= (p.Pro2582=)
c.5555C= (p.Pro1852=)
c.5231C= (p.Pro1744=)
11g.118503541C>GCA382806336KMT2Ac.7748C>G (p.Pro2583Arg)
c.7739C>G (p.Pro2580Arg)
c.1688C>G (p.Pro563Arg)
c.1946C>G (p.Pro649Arg)
c.7721C>G (p.Pro2574Arg)
c.7640C>G (p.Pro2547Arg)
n.6991C>G
c.7649C>G (p.Pro2550Arg)
c.7526C>G (p.Pro2509Arg)
n.1776C>G
c.5132C>G (p.Pro1711Arg)
c.7745C>G (p.Pro2582Arg)
c.5555C>G (p.Pro1852Arg)
c.5231C>G (p.Pro1744Arg)
gnomAD v4
11g.118503541C>TCA382806337KMT2Ac.7748C>T (p.Pro2583Leu)
c.7739C>T (p.Pro2580Leu)
c.1688C>T (p.Pro563Leu)
c.1946C>T (p.Pro649Leu)
c.7721C>T (p.Pro2574Leu)
c.7640C>T (p.Pro2547Leu)
n.6991C>T
c.7649C>T (p.Pro2550Leu)
c.7526C>T (p.Pro2509Leu)
n.1776C>T
c.5132C>T (p.Pro1711Leu)
c.7745C>T (p.Pro2582Leu)
c.5555C>T (p.Pro1852Leu)
c.5231C>T (p.Pro1744Leu)
dbSNP
11g.118503542T>ACA477359904KMT2Ac.7749T>A (p.Pro2583=)
c.7740T>A (p.Pro2580=)
c.1689T>A (p.Pro563=)
c.1947T>A (p.Pro649=)
c.7722T>A (p.Pro2574=)
c.7641T>A (p.Pro2547=)
n.6992T>A
c.7650T>A (p.Pro2550=)
c.7527T>A (p.Pro2509=)
n.1777T>A
c.5133T>A (p.Pro1711=)
c.7746T>A (p.Pro2582=)
c.5556T>A (p.Pro1852=)
c.5232T>A (p.Pro1744=)
11g.118503542T>CCA477359903KMT2Ac.7749T>C (p.Pro2583=)
c.7740T>C (p.Pro2580=)
c.1689T>C (p.Pro563=)
c.1947T>C (p.Pro649=)
c.7722T>C (p.Pro2574=)
c.7641T>C (p.Pro2547=)
n.6992T>C
c.7650T>C (p.Pro2550=)
c.7527T>C (p.Pro2509=)
n.1777T>C
c.5133T>C (p.Pro1711=)
c.7746T>C (p.Pro2582=)
c.5556T>C (p.Pro1852=)
c.5232T>C (p.Pro1744=)
11g.118503542T>GCA477359902KMT2Ac.7749T>G (p.Pro2583=)
c.7740T>G (p.Pro2580=)
c.1689T>G (p.Pro563=)
c.1947T>G (p.Pro649=)
c.7722T>G (p.Pro2574=)
c.7641T>G (p.Pro2547=)
n.6992T>G
c.7650T>G (p.Pro2550=)
c.7527T>G (p.Pro2509=)
n.1777T>G
c.5133T>G (p.Pro1711=)
c.7746T>G (p.Pro2582=)
c.5556T>G (p.Pro1852=)
c.5232T>G (p.Pro1744=)
11g.118503543T>ACA382806341KMT2Ac.7750T>A (p.Leu2584Met)
c.7741T>A (p.Leu2581Met)
c.1690T>A (p.Leu564Met)
c.1948T>A (p.Leu650Met)
c.7723T>A (p.Leu2575Met)
c.7642T>A (p.Leu2548Met)
n.6993T>A
c.7651T>A (p.Leu2551Met)
c.7528T>A (p.Leu2510Met)
n.1778T>A
c.5134T>A (p.Leu1712Met)
c.7747T>A (p.Leu2583Met)
c.5557T>A (p.Leu1853Met)
c.5233T>A (p.Leu1745Met)
11g.118503543T>CCA477359905KMT2Ac.7750T>C (p.Leu2584=)
c.7741T>C (p.Leu2581=)
c.1690T>C (p.Leu564=)
c.1948T>C (p.Leu650=)
c.7723T>C (p.Leu2575=)
c.7642T>C (p.Leu2548=)
n.6993T>C
c.7651T>C (p.Leu2551=)
c.7528T>C (p.Leu2510=)
n.1778T>C
c.5134T>C (p.Leu1712=)
c.7747T>C (p.Leu2583=)
c.5557T>C (p.Leu1853=)
c.5233T>C (p.Leu1745=)
dbSNP gnomAD v4
11g.118503543T>GCA382806339KMT2Ac.7750T>G (p.Leu2584Val)
c.7741T>G (p.Leu2581Val)
c.1690T>G (p.Leu564Val)
c.1948T>G (p.Leu650Val)
c.7723T>G (p.Leu2575Val)
c.7642T>G (p.Leu2548Val)
n.6993T>G
c.7651T>G (p.Leu2551Val)
c.7528T>G (p.Leu2510Val)
n.1778T>G
c.5134T>G (p.Leu1712Val)
c.7747T>G (p.Leu2583Val)
c.5557T>G (p.Leu1853Val)
c.5233T>G (p.Leu1745Val)
11g.118503543T=CA2003527985KMT2Ac.7750T= (p.Leu2584=)
c.7741T= (p.Leu2581=)
c.1690T= (p.Leu564=)
c.1948T= (p.Leu650=)
c.7723T= (p.Leu2575=)
c.7642T= (p.Leu2548=)
n.6993T=
c.7651T= (p.Leu2551=)
c.7528T= (p.Leu2510=)
n.1778T=
c.5134T= (p.Leu1712=)
c.7747T= (p.Leu2583=)
c.5557T= (p.Leu1853=)
c.5233T= (p.Leu1745=)
11g.118503544T>ACA382806343KMT2Ac.7751T>A (p.Leu2584Ter)
c.7742T>A (p.Leu2581Ter)
c.1691T>A (p.Leu564Ter)
c.1949T>A (p.Leu650Ter)
c.7724T>A (p.Leu2575Ter)
c.7643T>A (p.Leu2548Ter)
n.6994T>A
c.7652T>A (p.Leu2551Ter)
c.7529T>A (p.Leu2510Ter)
n.1779T>A
c.5135T>A (p.Leu1712Ter)
c.7748T>A (p.Leu2583Ter)
c.5558T>A (p.Leu1853Ter)
c.5234T>A (p.Leu1745Ter)
11g.118503544T>CCA382806344KMT2Ac.7751T>C (p.Leu2584Ser)
c.7742T>C (p.Leu2581Ser)
c.1691T>C (p.Leu564Ser)
c.1949T>C (p.Leu650Ser)
c.7724T>C (p.Leu2575Ser)
c.7643T>C (p.Leu2548Ser)
n.6994T>C
c.7652T>C (p.Leu2551Ser)
c.7529T>C (p.Leu2510Ser)
n.1779T>C
c.5135T>C (p.Leu1712Ser)
c.7748T>C (p.Leu2583Ser)
c.5558T>C (p.Leu1853Ser)
c.5234T>C (p.Leu1745Ser)
11g.118503544T>GCA6304417KMT2Ac.7751T>G (p.Leu2584Trp)
c.7742T>G (p.Leu2581Trp)
c.1691T>G (p.Leu564Trp)
c.1949T>G (p.Leu650Trp)
c.7724T>G (p.Leu2575Trp)
c.7643T>G (p.Leu2548Trp)
n.6994T>G
c.7652T>G (p.Leu2551Trp)
c.7529T>G (p.Leu2510Trp)
n.1779T>G
c.5135T>G (p.Leu1712Trp)
c.7748T>G (p.Leu2583Trp)
c.5558T>G (p.Leu1853Trp)
c.5234T>G (p.Leu1745Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503544T=CA2003527986KMT2Ac.7751T= (p.Leu2584=)
c.7742T= (p.Leu2581=)
c.1691T= (p.Leu564=)
c.1949T= (p.Leu650=)
c.7724T= (p.Leu2575=)
c.7643T= (p.Leu2548=)
n.6994T=
c.7652T= (p.Leu2551=)
c.7529T= (p.Leu2510=)
n.1779T=
c.5135T= (p.Leu1712=)
c.7748T= (p.Leu2583=)
c.5558T= (p.Leu1853=)
c.5234T= (p.Leu1745=)
11g.118503545delCA2616265410KMT2Ac.7752del (p.Leu2584PhefsTer3)
c.7743del (p.Leu2581PhefsTer3)
c.1692del (p.Leu564PhefsTer3)
c.1950del (p.Leu650PhefsTer3)
c.7725del (p.Leu2575PhefsTer3)
c.7644del (p.Leu2548PhefsTer3)
n.6995del
c.7653del (p.Leu2551PhefsTer3)
c.7530del (p.Leu2510PhefsTer3)
n.1780del
c.5136del (p.Leu1712PhefsTer3)
c.7749del (p.Leu2583PhefsTer3)
c.5559del (p.Leu1853PhefsTer3)
c.5235del (p.Leu1745PhefsTer3)
gnomAD v4
11g.118503545G>ACA477359909KMT2Ac.7752G>A (p.Leu2584=)
c.7743G>A (p.Leu2581=)
c.1692G>A (p.Leu564=)
c.1950G>A (p.Leu650=)
c.7725G>A (p.Leu2575=)
c.7644G>A (p.Leu2548=)
n.6995G>A
c.7653G>A (p.Leu2551=)
c.7530G>A (p.Leu2510=)
n.1780G>A
c.5136G>A (p.Leu1712=)
c.7749G>A (p.Leu2583=)
c.5559G>A (p.Leu1853=)
c.5235G>A (p.Leu1745=)
dbSNP gnomAD v3 gnomAD v4
11g.118503545G>CCA382806348KMT2Ac.7752G>C (p.Leu2584Phe)
c.7743G>C (p.Leu2581Phe)
c.1692G>C (p.Leu564Phe)
c.1950G>C (p.Leu650Phe)
c.7725G>C (p.Leu2575Phe)
c.7644G>C (p.Leu2548Phe)
n.6995G>C
c.7653G>C (p.Leu2551Phe)
c.7530G>C (p.Leu2510Phe)
n.1780G>C
c.5136G>C (p.Leu1712Phe)
c.7749G>C (p.Leu2583Phe)
c.5559G>C (p.Leu1853Phe)
c.5235G>C (p.Leu1745Phe)
11g.118503545G=CA2003527987KMT2Ac.7752G= (p.Leu2584=)
c.7743G= (p.Leu2581=)
c.1692G= (p.Leu564=)
c.1950G= (p.Leu650=)
c.7725G= (p.Leu2575=)
c.7644G= (p.Leu2548=)
n.6995G=
c.7653G= (p.Leu2551=)
c.7530G= (p.Leu2510=)
n.1780G=
c.5136G= (p.Leu1712=)
c.7749G= (p.Leu2583=)
c.5559G= (p.Leu1853=)
c.5235G= (p.Leu1745=)
11g.118503545G>TCA382806349KMT2Ac.7752G>T (p.Leu2584Phe)
c.7743G>T (p.Leu2581Phe)
c.1692G>T (p.Leu564Phe)
c.1950G>T (p.Leu650Phe)
c.7725G>T (p.Leu2575Phe)
c.7644G>T (p.Leu2548Phe)
n.6995G>T
c.7653G>T (p.Leu2551Phe)
c.7530G>T (p.Leu2510Phe)
n.1780G>T
c.5136G>T (p.Leu1712Phe)
c.7749G>T (p.Leu2583Phe)
c.5559G>T (p.Leu1853Phe)
c.5235G>T (p.Leu1745Phe)
11g.118503546C>ACA382806351KMT2Ac.7753C>A (p.Gln2585Lys)
c.7744C>A (p.Gln2582Lys)
c.1693C>A (p.Gln565Lys)
c.1951C>A (p.Gln651Lys)
c.7726C>A (p.Gln2576Lys)
c.7645C>A (p.Gln2549Lys)
n.6996C>A
c.7654C>A (p.Gln2552Lys)
c.7531C>A (p.Gln2511Lys)
n.1781C>A
c.5137C>A (p.Gln1713Lys)
c.7750C>A (p.Gln2584Lys)
c.5560C>A (p.Gln1854Lys)
c.5236C>A (p.Gln1746Lys)
ClinVar dbSNP
11g.118503546C>GCA382806353KMT2Ac.7753C>G (p.Gln2585Glu)
c.7744C>G (p.Gln2582Glu)
c.1693C>G (p.Gln565Glu)
c.1951C>G (p.Gln651Glu)
c.7726C>G (p.Gln2576Glu)
c.7645C>G (p.Gln2549Glu)
n.6996C>G
c.7654C>G (p.Gln2552Glu)
c.7531C>G (p.Gln2511Glu)
n.1781C>G
c.5137C>G (p.Gln1713Glu)
c.7750C>G (p.Gln2584Glu)
c.5560C>G (p.Gln1854Glu)
c.5236C>G (p.Gln1746Glu)
ClinVar
11g.118503546C>TCA382806354KMT2Ac.7753C>T (p.Gln2585Ter)
c.7744C>T (p.Gln2582Ter)
c.1693C>T (p.Gln565Ter)
c.1951C>T (p.Gln651Ter)
c.7726C>T (p.Gln2576Ter)
c.7645C>T (p.Gln2549Ter)
n.6996C>T
c.7654C>T (p.Gln2552Ter)
c.7531C>T (p.Gln2511Ter)
n.1781C>T
c.5137C>T (p.Gln1713Ter)
c.7750C>T (p.Gln2584Ter)
c.5560C>T (p.Gln1854Ter)
c.5236C>T (p.Gln1746Ter)
dbSNP
11g.118503547A>CCA382806356KMT2Ac.7754A>C (p.Gln2585Pro)
c.7745A>C (p.Gln2582Pro)
c.1694A>C (p.Gln565Pro)
c.1952A>C (p.Gln651Pro)
c.7727A>C (p.Gln2576Pro)
c.7646A>C (p.Gln2549Pro)
n.6997A>C
c.7655A>C (p.Gln2552Pro)
c.7532A>C (p.Gln2511Pro)
n.1782A>C
c.5138A>C (p.Gln1713Pro)
c.7751A>C (p.Gln2584Pro)
c.5561A>C (p.Gln1854Pro)
c.5237A>C (p.Gln1746Pro)
11g.118503547A>GCA382806358KMT2Ac.7754A>G (p.Gln2585Arg)
c.7745A>G (p.Gln2582Arg)
c.1694A>G (p.Gln565Arg)
c.1952A>G (p.Gln651Arg)
c.7727A>G (p.Gln2576Arg)
c.7646A>G (p.Gln2549Arg)
n.6997A>G
c.7655A>G (p.Gln2552Arg)
c.7532A>G (p.Gln2511Arg)
n.1782A>G
c.5138A>G (p.Gln1713Arg)
c.7751A>G (p.Gln2584Arg)
c.5561A>G (p.Gln1854Arg)
c.5237A>G (p.Gln1746Arg)
11g.118503547A>TCA382806360KMT2Ac.7754A>T (p.Gln2585Leu)
c.7745A>T (p.Gln2582Leu)
c.1694A>T (p.Gln565Leu)
c.1952A>T (p.Gln651Leu)
c.7727A>T (p.Gln2576Leu)
c.7646A>T (p.Gln2549Leu)
n.6997A>T
c.7655A>T (p.Gln2552Leu)
c.7532A>T (p.Gln2511Leu)
n.1782A>T
c.5138A>T (p.Gln1713Leu)
c.7751A>T (p.Gln2584Leu)
c.5561A>T (p.Gln1854Leu)
c.5237A>T (p.Gln1746Leu)
11g.118503548A=CA2003527988KMT2Ac.7755A= (p.Gln2585=)
c.7746A= (p.Gln2582=)
c.1695A= (p.Gln565=)
c.1953A= (p.Gln651=)
c.7728A= (p.Gln2576=)
c.7647A= (p.Gln2549=)
n.6998A=
c.7656A= (p.Gln2552=)
c.7533A= (p.Gln2511=)
n.1783A=
c.5139A= (p.Gln1713=)
c.7752A= (p.Gln2584=)
c.5562A= (p.Gln1854=)
c.5238A= (p.Gln1746=)
11g.118503548A>CCA382806364KMT2Ac.7755A>C (p.Gln2585His)
c.7746A>C (p.Gln2582His)
c.1695A>C (p.Gln565His)
c.1953A>C (p.Gln651His)
c.7728A>C (p.Gln2576His)
c.7647A>C (p.Gln2549His)
n.6998A>C
c.7656A>C (p.Gln2552His)
c.7533A>C (p.Gln2511His)
n.1783A>C
c.5139A>C (p.Gln1713His)
c.7752A>C (p.Gln2584His)
c.5562A>C (p.Gln1854His)
c.5238A>C (p.Gln1746His)
11g.118503548A>GCA6304418KMT2Ac.7755A>G (p.Gln2585=)
c.7746A>G (p.Gln2582=)
c.1695A>G (p.Gln565=)
c.1953A>G (p.Gln651=)
c.7728A>G (p.Gln2576=)
c.7647A>G (p.Gln2549=)
n.6998A>G
c.7656A>G (p.Gln2552=)
c.7533A>G (p.Gln2511=)
n.1783A>G
c.5139A>G (p.Gln1713=)
c.7752A>G (p.Gln2584=)
c.5562A>G (p.Gln1854=)
c.5238A>G (p.Gln1746=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503548A>TCA382806362KMT2Ac.7755A>T (p.Gln2585His)
c.7746A>T (p.Gln2582His)
c.1695A>T (p.Gln565His)
c.1953A>T (p.Gln651His)
c.7728A>T (p.Gln2576His)
c.7647A>T (p.Gln2549His)
n.6998A>T
c.7656A>T (p.Gln2552His)
c.7533A>T (p.Gln2511His)
n.1783A>T
c.5139A>T (p.Gln1713His)
c.7752A>T (p.Gln2584His)
c.5562A>T (p.Gln1854His)
c.5238A>T (p.Gln1746His)
gnomAD v4
11g.118503549A=CA2003527989KMT2Ac.7756A= (p.Ile2586=)
c.7747A= (p.Ile2583=)
c.1696A= (p.Ile566=)
c.1954A= (p.Ile652=)
c.7729A= (p.Ile2577=)
c.7648A= (p.Ile2550=)
n.6999A=
c.7657A= (p.Ile2553=)
c.7534A= (p.Ile2512=)
n.1784A=
c.5140A= (p.Ile1714=)
c.7753A= (p.Ile2585=)
c.5563A= (p.Ile1855=)
c.5239A= (p.Ile1747=)
11g.118503549A>CCA382806366KMT2Ac.7756A>C (p.Ile2586Leu)
c.7747A>C (p.Ile2583Leu)
c.1696A>C (p.Ile566Leu)
c.1954A>C (p.Ile652Leu)
c.7729A>C (p.Ile2577Leu)
c.7648A>C (p.Ile2550Leu)
n.6999A>C
c.7657A>C (p.Ile2553Leu)
c.7534A>C (p.Ile2512Leu)
n.1784A>C
c.5140A>C (p.Ile1714Leu)
c.7753A>C (p.Ile2585Leu)
c.5563A>C (p.Ile1855Leu)
c.5239A>C (p.Ile1747Leu)
11g.118503549A>GCA382806368KMT2Ac.7756A>G (p.Ile2586Val)
c.7747A>G (p.Ile2583Val)
c.1696A>G (p.Ile566Val)
c.1954A>G (p.Ile652Val)
c.7729A>G (p.Ile2577Val)
c.7648A>G (p.Ile2550Val)
n.6999A>G
c.7657A>G (p.Ile2553Val)
c.7534A>G (p.Ile2512Val)
n.1784A>G
c.5140A>G (p.Ile1714Val)
c.7753A>G (p.Ile2585Val)
c.5563A>G (p.Ile1855Val)
c.5239A>G (p.Ile1747Val)
dbSNP
11g.118503549A>TCA6304419KMT2Ac.7756A>T (p.Ile2586Leu)
c.7747A>T (p.Ile2583Leu)
c.1696A>T (p.Ile566Leu)
c.1954A>T (p.Ile652Leu)
c.7729A>T (p.Ile2577Leu)
c.7648A>T (p.Ile2550Leu)
n.6999A>T
c.7657A>T (p.Ile2553Leu)
c.7534A>T (p.Ile2512Leu)
n.1784A>T
c.5140A>T (p.Ile1714Leu)
c.7753A>T (p.Ile2585Leu)
c.5563A>T (p.Ile1855Leu)
c.5239A>T (p.Ile1747Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503550T>ACA382806370KMT2Ac.7757T>A (p.Ile2586Lys)
c.7748T>A (p.Ile2583Lys)
c.1697T>A (p.Ile566Lys)
c.1955T>A (p.Ile652Lys)
c.7730T>A (p.Ile2577Lys)
c.7649T>A (p.Ile2550Lys)
n.7000T>A
c.7658T>A (p.Ile2553Lys)
c.7535T>A (p.Ile2512Lys)
n.1785T>A
c.5141T>A (p.Ile1714Lys)
c.7754T>A (p.Ile2585Lys)
c.5564T>A (p.Ile1855Lys)
c.5240T>A (p.Ile1747Lys)
dbSNP
11g.118503550T>CCA382806372KMT2Ac.7757T>C (p.Ile2586Thr)
c.7748T>C (p.Ile2583Thr)
c.1697T>C (p.Ile566Thr)
c.1955T>C (p.Ile652Thr)
c.7730T>C (p.Ile2577Thr)
c.7649T>C (p.Ile2550Thr)
n.7000T>C
c.7658T>C (p.Ile2553Thr)
c.7535T>C (p.Ile2512Thr)
n.1785T>C
c.5141T>C (p.Ile1714Thr)
c.7754T>C (p.Ile2585Thr)
c.5564T>C (p.Ile1855Thr)
c.5240T>C (p.Ile1747Thr)
dbSNP gnomAD v4
11g.118503550T>GCA382806374KMT2Ac.7757T>G (p.Ile2586Arg)
c.7748T>G (p.Ile2583Arg)
c.1697T>G (p.Ile566Arg)
c.1955T>G (p.Ile652Arg)
c.7730T>G (p.Ile2577Arg)
c.7649T>G (p.Ile2550Arg)
n.7000T>G
c.7658T>G (p.Ile2553Arg)
c.7535T>G (p.Ile2512Arg)
n.1785T>G
c.5141T>G (p.Ile1714Arg)
c.7754T>G (p.Ile2585Arg)
c.5564T>G (p.Ile1855Arg)
c.5240T>G (p.Ile1747Arg)
11g.118503550T=CA2003527991KMT2Ac.7757T= (p.Ile2586=)
c.7748T= (p.Ile2583=)
c.1697T= (p.Ile566=)
c.1955T= (p.Ile652=)
c.7730T= (p.Ile2577=)
c.7649T= (p.Ile2550=)
n.7000T=
c.7658T= (p.Ile2553=)
c.7535T= (p.Ile2512=)
n.1785T=
c.5141T= (p.Ile1714=)
c.7754T= (p.Ile2585=)
c.5564T= (p.Ile1855=)
c.5240T= (p.Ile1747=)
11g.118503551A>CCA477359921KMT2Ac.7758A>C (p.Ile2586=)
c.7749A>C (p.Ile2583=)
c.1698A>C (p.Ile566=)
c.1956A>C (p.Ile652=)
c.7731A>C (p.Ile2577=)
c.7650A>C (p.Ile2550=)
n.7001A>C
c.7659A>C (p.Ile2553=)
c.7536A>C (p.Ile2512=)
n.1786A>C
c.5142A>C (p.Ile1714=)
c.7755A>C (p.Ile2585=)
c.5565A>C (p.Ile1855=)
c.5241A>C (p.Ile1747=)
11g.118503551A>GCA382806376KMT2Ac.7758A>G (p.Ile2586Met)
c.7749A>G (p.Ile2583Met)
c.1698A>G (p.Ile566Met)
c.1956A>G (p.Ile652Met)
c.7731A>G (p.Ile2577Met)
c.7650A>G (p.Ile2550Met)
n.7001A>G
c.7659A>G (p.Ile2553Met)
c.7536A>G (p.Ile2512Met)
n.1786A>G
c.5142A>G (p.Ile1714Met)
c.7755A>G (p.Ile2585Met)
c.5565A>G (p.Ile1855Met)
c.5241A>G (p.Ile1747Met)
11g.118503551A>TCA477359923KMT2Ac.7758A>T (p.Ile2586=)
c.7749A>T (p.Ile2583=)
c.1698A>T (p.Ile566=)
c.1956A>T (p.Ile652=)
c.7731A>T (p.Ile2577=)
c.7650A>T (p.Ile2550=)
n.7001A>T
c.7659A>T (p.Ile2553=)
c.7536A>T (p.Ile2512=)
n.1786A>T
c.5142A>T (p.Ile1714=)
c.7755A>T (p.Ile2585=)
c.5565A>T (p.Ile1855=)
c.5241A>T (p.Ile1747=)
11g.118503551dupCA16603320KMT2Ac.7758dup (p.Glu2587ArgfsTer13)
c.7749dup (p.Glu2584ArgfsTer13)
c.1698dup (p.Glu567ArgfsTer13)
c.1956dup (p.Glu653ArgfsTer13)
c.7731dup (p.Glu2578ArgfsTer13)
c.7650dup (p.Glu2551ArgfsTer13)
n.7001dup
c.7659dup (p.Glu2554ArgfsTer13)
c.7536dup (p.Glu2513ArgfsTer13)
n.1786dup
c.5142dup (p.Glu1715ArgfsTer13)
c.7755dup (p.Glu2586ArgfsTer13)
c.5565dup (p.Glu1856ArgfsTer13)
c.5241dup (p.Glu1748ArgfsTer13)
ClinVar dbSNP
11g.118503552G>ACA382806378KMT2Ac.7759G>A (p.Glu2587Lys)
c.7750G>A (p.Glu2584Lys)
c.1699G>A (p.Glu567Lys)
c.1957G>A (p.Glu653Lys)
c.7732G>A (p.Glu2578Lys)
c.7651G>A (p.Glu2551Lys)
n.7002G>A
c.7660G>A (p.Glu2554Lys)
c.7537G>A (p.Glu2513Lys)
n.1787G>A
c.5143G>A (p.Glu1715Lys)
c.7756G>A (p.Glu2586Lys)
c.5566G>A (p.Glu1856Lys)
c.5242G>A (p.Glu1748Lys)
11g.118503552G>CCA382806380KMT2Ac.7759G>C (p.Glu2587Gln)
c.7750G>C (p.Glu2584Gln)
c.1699G>C (p.Glu567Gln)
c.1957G>C (p.Glu653Gln)
c.7732G>C (p.Glu2578Gln)
c.7651G>C (p.Glu2551Gln)
n.7002G>C
c.7660G>C (p.Glu2554Gln)
c.7537G>C (p.Glu2513Gln)
n.1787G>C
c.5143G>C (p.Glu1715Gln)
c.7756G>C (p.Glu2586Gln)
c.5566G>C (p.Glu1856Gln)
c.5242G>C (p.Glu1748Gln)
11g.118503552G>TCA382806381KMT2Ac.7759G>T (p.Glu2587Ter)
c.7750G>T (p.Glu2584Ter)
c.1699G>T (p.Glu567Ter)
c.1957G>T (p.Glu653Ter)
c.7732G>T (p.Glu2578Ter)
c.7651G>T (p.Glu2551Ter)
n.7002G>T
c.7660G>T (p.Glu2554Ter)
c.7537G>T (p.Glu2513Ter)
n.1787G>T
c.5143G>T (p.Glu1715Ter)
c.7756G>T (p.Glu2586Ter)
c.5566G>T (p.Glu1856Ter)
c.5242G>T (p.Glu1748Ter)
11g.118503553A>CCA382806383KMT2Ac.7760A>C (p.Glu2587Ala)
c.7751A>C (p.Glu2584Ala)
c.1700A>C (p.Glu567Ala)
c.1958A>C (p.Glu653Ala)
c.7733A>C (p.Glu2578Ala)
c.7652A>C (p.Glu2551Ala)
n.7003A>C
c.7661A>C (p.Glu2554Ala)
c.7538A>C (p.Glu2513Ala)
n.1788A>C
c.5144A>C (p.Glu1715Ala)
c.7757A>C (p.Glu2586Ala)
c.5567A>C (p.Glu1856Ala)
c.5243A>C (p.Glu1748Ala)
11g.118503553A>GCA382806385KMT2Ac.7760A>G (p.Glu2587Gly)
c.7751A>G (p.Glu2584Gly)
c.1700A>G (p.Glu567Gly)
c.1958A>G (p.Glu653Gly)
c.7733A>G (p.Glu2578Gly)
c.7652A>G (p.Glu2551Gly)
n.7003A>G
c.7661A>G (p.Glu2554Gly)
c.7538A>G (p.Glu2513Gly)
n.1788A>G
c.5144A>G (p.Glu1715Gly)
c.7757A>G (p.Glu2586Gly)
c.5567A>G (p.Glu1856Gly)
c.5243A>G (p.Glu1748Gly)
11g.118503553A>TCA382806387KMT2Ac.7760A>T (p.Glu2587Val)
c.7751A>T (p.Glu2584Val)
c.1700A>T (p.Glu567Val)
c.1958A>T (p.Glu653Val)
c.7733A>T (p.Glu2578Val)
c.7652A>T (p.Glu2551Val)
n.7003A>T
c.7661A>T (p.Glu2554Val)
c.7538A>T (p.Glu2513Val)
n.1788A>T
c.5144A>T (p.Glu1715Val)
c.7757A>T (p.Glu2586Val)
c.5567A>T (p.Glu1856Val)
c.5243A>T (p.Glu1748Val)
dbSNP
11g.118503554G>ACA477359926KMT2Ac.7761G>A (p.Glu2587=)
c.7752G>A (p.Glu2584=)
c.1701G>A (p.Glu567=)
c.1959G>A (p.Glu653=)
c.7734G>A (p.Glu2578=)
c.7653G>A (p.Glu2551=)
n.7004G>A
c.7662G>A (p.Glu2554=)
c.7539G>A (p.Glu2513=)
n.1789G>A
c.5145G>A (p.Glu1715=)
c.7758G>A (p.Glu2586=)
c.5568G>A (p.Glu1856=)
c.5244G>A (p.Glu1748=)
dbSNP gnomAD v2 gnomAD v4
11g.118503554G>CCA382806390KMT2Ac.7761G>C (p.Glu2587Asp)
c.7752G>C (p.Glu2584Asp)
c.1701G>C (p.Glu567Asp)
c.1959G>C (p.Glu653Asp)
c.7734G>C (p.Glu2578Asp)
c.7653G>C (p.Glu2551Asp)
n.7004G>C
c.7662G>C (p.Glu2554Asp)
c.7539G>C (p.Glu2513Asp)
n.1789G>C
c.5145G>C (p.Glu1715Asp)
c.7758G>C (p.Glu2586Asp)
c.5568G>C (p.Glu1856Asp)
c.5244G>C (p.Glu1748Asp)
dbSNP
11g.118503554G=CA2003528001KMT2Ac.7761G= (p.Glu2587=)
c.7752G= (p.Glu2584=)
c.1701G= (p.Glu567=)
c.1959G= (p.Glu653=)
c.7734G= (p.Glu2578=)
c.7653G= (p.Glu2551=)
n.7004G=
c.7662G= (p.Glu2554=)
c.7539G= (p.Glu2513=)
n.1789G=
c.5145G= (p.Glu1715=)
c.7758G= (p.Glu2586=)
c.5568G= (p.Glu1856=)
c.5244G= (p.Glu1748=)
11g.118503554G>TCA382806388KMT2Ac.7761G>T (p.Glu2587Asp)
c.7752G>T (p.Glu2584Asp)
c.1701G>T (p.Glu567Asp)
c.1959G>T (p.Glu653Asp)
c.7734G>T (p.Glu2578Asp)
c.7653G>T (p.Glu2551Asp)
n.7004G>T
c.7662G>T (p.Glu2554Asp)
c.7539G>T (p.Glu2513Asp)
n.1789G>T
c.5145G>T (p.Glu1715Asp)
c.7758G>T (p.Glu2586Asp)
c.5568G>T (p.Glu1856Asp)
c.5244G>T (p.Glu1748Asp)
11g.118503555T>ACA382806392KMT2Ac.7762T>A (p.Ser2588Thr)
c.7753T>A (p.Ser2585Thr)
c.1702T>A (p.Ser568Thr)
c.1960T>A (p.Ser654Thr)
c.7735T>A (p.Ser2579Thr)
c.7654T>A (p.Ser2552Thr)
n.7005T>A
c.7663T>A (p.Ser2555Thr)
c.7540T>A (p.Ser2514Thr)
n.1790T>A
c.5146T>A (p.Ser1716Thr)
c.7759T>A (p.Ser2587Thr)
c.5569T>A (p.Ser1857Thr)
c.5245T>A (p.Ser1749Thr)
gnomAD v4
11g.118503555T>CCA6304420KMT2Ac.7762T>C (p.Ser2588Pro)
c.7753T>C (p.Ser2585Pro)
c.1702T>C (p.Ser568Pro)
c.1960T>C (p.Ser654Pro)
c.7735T>C (p.Ser2579Pro)
c.7654T>C (p.Ser2552Pro)
n.7005T>C
c.7663T>C (p.Ser2555Pro)
c.7540T>C (p.Ser2514Pro)
n.1790T>C
c.5146T>C (p.Ser1716Pro)
c.7759T>C (p.Ser2587Pro)
c.5569T>C (p.Ser1857Pro)
c.5245T>C (p.Ser1749Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.118503555T>GCA382806393KMT2Ac.7762T>G (p.Ser2588Ala)
c.7753T>G (p.Ser2585Ala)
c.1702T>G (p.Ser568Ala)
c.1960T>G (p.Ser654Ala)
c.7735T>G (p.Ser2579Ala)
c.7654T>G (p.Ser2552Ala)
n.7005T>G
c.7663T>G (p.Ser2555Ala)
c.7540T>G (p.Ser2514Ala)
n.1790T>G
c.5146T>G (p.Ser1716Ala)
c.7759T>G (p.Ser2587Ala)
c.5569T>G (p.Ser1857Ala)
c.5245T>G (p.Ser1749Ala)
11g.118503555T=CA2003528005KMT2Ac.7762T= (p.Ser2588=)
c.7753T= (p.Ser2585=)
c.1702T= (p.Ser568=)
c.1960T= (p.Ser654=)
c.7735T= (p.Ser2579=)
c.7654T= (p.Ser2552=)
n.7005T=
c.7663T= (p.Ser2555=)
c.7540T= (p.Ser2514=)
n.1790T=
c.5146T= (p.Ser1716=)
c.7759T= (p.Ser2587=)
c.5569T= (p.Ser1857=)
c.5245T= (p.Ser1749=)
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

Number of alleles fetched