Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118502461T>ACA382802242KMT2Ac.6668T>A (p.Leu2223His)
c.6659T>A (p.Leu2220His)
c.608T>A (p.Leu203His)
c.866T>A (p.Leu289His)
c.6641T>A (p.Leu2214His)
c.6560T>A (p.Leu2187His)
n.5911T>A
c.6569T>A (p.Leu2190His)
c.6446T>A (p.Leu2149His)
n.696T>A
c.4052T>A (p.Leu1351His)
c.6665T>A (p.Leu2222His)
c.4475T>A (p.Leu1492His)
c.4151T>A (p.Leu1384His)
11g.118502461T>CCA382802244KMT2Ac.6668T>C (p.Leu2223Pro)
c.6659T>C (p.Leu2220Pro)
c.608T>C (p.Leu203Pro)
c.866T>C (p.Leu289Pro)
c.6641T>C (p.Leu2214Pro)
c.6560T>C (p.Leu2187Pro)
n.5911T>C
c.6569T>C (p.Leu2190Pro)
c.6446T>C (p.Leu2149Pro)
n.696T>C
c.4052T>C (p.Leu1351Pro)
c.6665T>C (p.Leu2222Pro)
c.4475T>C (p.Leu1492Pro)
c.4151T>C (p.Leu1384Pro)
11g.118502461T>GCA382802245KMT2Ac.6668T>G (p.Leu2223Arg)
c.6659T>G (p.Leu2220Arg)
c.608T>G (p.Leu203Arg)
c.866T>G (p.Leu289Arg)
c.6641T>G (p.Leu2214Arg)
c.6560T>G (p.Leu2187Arg)
n.5911T>G
c.6569T>G (p.Leu2190Arg)
c.6446T>G (p.Leu2149Arg)
n.696T>G
c.4052T>G (p.Leu1351Arg)
c.6665T>G (p.Leu2222Arg)
c.4475T>G (p.Leu1492Arg)
c.4151T>G (p.Leu1384Arg)
11g.118502462T>ACA477093449KMT2Ac.6669T>A (p.Leu2223=)
c.6660T>A (p.Leu2220=)
c.609T>A (p.Leu203=)
c.867T>A (p.Leu289=)
c.6642T>A (p.Leu2214=)
c.6561T>A (p.Leu2187=)
n.5912T>A
c.6570T>A (p.Leu2190=)
c.6447T>A (p.Leu2149=)
n.697T>A
c.4053T>A (p.Leu1351=)
c.6666T>A (p.Leu2222=)
c.4476T>A (p.Leu1492=)
c.4152T>A (p.Leu1384=)
11g.118502462T>CCA477093450KMT2Ac.6669T>C (p.Leu2223=)
c.6660T>C (p.Leu2220=)
c.609T>C (p.Leu203=)
c.867T>C (p.Leu289=)
c.6642T>C (p.Leu2214=)
c.6561T>C (p.Leu2187=)
n.5912T>C
c.6570T>C (p.Leu2190=)
c.6447T>C (p.Leu2149=)
n.697T>C
c.4053T>C (p.Leu1351=)
c.6666T>C (p.Leu2222=)
c.4476T>C (p.Leu1492=)
c.4152T>C (p.Leu1384=)
11g.118502462T>GCA477093451KMT2Ac.6669T>G (p.Leu2223=)
c.6660T>G (p.Leu2220=)
c.609T>G (p.Leu203=)
c.867T>G (p.Leu289=)
c.6642T>G (p.Leu2214=)
c.6561T>G (p.Leu2187=)
n.5912T>G
c.6570T>G (p.Leu2190=)
c.6447T>G (p.Leu2149=)
n.697T>G
c.4053T>G (p.Leu1351=)
c.6666T>G (p.Leu2222=)
c.4476T>G (p.Leu1492=)
c.4152T>G (p.Leu1384=)
11g.118502463C>ACA6304271KMT2Ac.6670C>A (p.Arg2224=)
c.6661C>A (p.Arg2221=)
c.610C>A (p.Arg204=)
c.868C>A (p.Arg290=)
c.6643C>A (p.Arg2215=)
c.6562C>A (p.Arg2188=)
n.5913C>A
c.6571C>A (p.Arg2191=)
c.6448C>A (p.Arg2150=)
n.698C>A
c.4054C>A (p.Arg1352=)
c.6667C>A (p.Arg2223=)
c.4477C>A (p.Arg1493=)
c.4153C>A (p.Arg1385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502463C=CA2003526223KMT2Ac.6670C= (p.Arg2224=)
c.6661C= (p.Arg2221=)
c.610C= (p.Arg204=)
c.868C= (p.Arg290=)
c.6643C= (p.Arg2215=)
c.6562C= (p.Arg2188=)
n.5913C=
c.6571C= (p.Arg2191=)
c.6448C= (p.Arg2150=)
n.698C=
c.4054C= (p.Arg1352=)
c.6667C= (p.Arg2223=)
c.4477C= (p.Arg1493=)
c.4153C= (p.Arg1385=)
11g.118502463C>GCA382802248KMT2Ac.6670C>G (p.Arg2224Gly)
c.6661C>G (p.Arg2221Gly)
c.610C>G (p.Arg204Gly)
c.868C>G (p.Arg290Gly)
c.6643C>G (p.Arg2215Gly)
c.6562C>G (p.Arg2188Gly)
n.5913C>G
c.6571C>G (p.Arg2191Gly)
c.6448C>G (p.Arg2150Gly)
n.698C>G
c.4054C>G (p.Arg1352Gly)
c.6667C>G (p.Arg2223Gly)
c.4477C>G (p.Arg1493Gly)
c.4153C>G (p.Arg1385Gly)
11g.118502463C>TCA382802250KMT2Ac.6670C>T (p.Arg2224Ter)
c.6661C>T (p.Arg2221Ter)
c.610C>T (p.Arg204Ter)
c.868C>T (p.Arg290Ter)
c.6643C>T (p.Arg2215Ter)
c.6562C>T (p.Arg2188Ter)
n.5913C>T
c.6571C>T (p.Arg2191Ter)
c.6448C>T (p.Arg2150Ter)
n.698C>T
c.4054C>T (p.Arg1352Ter)
c.6667C>T (p.Arg2223Ter)
c.4477C>T (p.Arg1493Ter)
c.4153C>T (p.Arg1385Ter)
 ClinVar dbSNP COSMIC COSMIC
11g.118502464G>ACA090918KMT2Ac.6671G>A (p.Arg2224Gln)
c.6662G>A (p.Arg2221Gln)
c.611G>A (p.Arg204Gln)
c.869G>A (p.Arg290Gln)
c.6644G>A (p.Arg2215Gln)
c.6563G>A (p.Arg2188Gln)
n.5914G>A
c.6572G>A (p.Arg2191Gln)
c.6449G>A (p.Arg2150Gln)
n.699G>A
c.4055G>A (p.Arg1352Gln)
c.6668G>A (p.Arg2223Gln)
c.4478G>A (p.Arg1493Gln)
c.4154G>A (p.Arg1385Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502464G>CCA382802252KMT2Ac.6671G>C (p.Arg2224Pro)
c.6662G>C (p.Arg2221Pro)
c.611G>C (p.Arg204Pro)
c.869G>C (p.Arg290Pro)
c.6644G>C (p.Arg2215Pro)
c.6563G>C (p.Arg2188Pro)
n.5914G>C
c.6572G>C (p.Arg2191Pro)
c.6449G>C (p.Arg2150Pro)
n.699G>C
c.4055G>C (p.Arg1352Pro)
c.6668G>C (p.Arg2223Pro)
c.4478G>C (p.Arg1493Pro)
c.4154G>C (p.Arg1385Pro)
11g.118502464G=CA2003526240KMT2Ac.6671G= (p.Arg2224=)
c.6662G= (p.Arg2221=)
c.611G= (p.Arg204=)
c.869G= (p.Arg290=)
c.6644G= (p.Arg2215=)
c.6563G= (p.Arg2188=)
n.5914G=
c.6572G= (p.Arg2191=)
c.6449G= (p.Arg2150=)
n.699G=
c.4055G= (p.Arg1352=)
c.6668G= (p.Arg2223=)
c.4478G= (p.Arg1493=)
c.4154G= (p.Arg1385=)
11g.118502464G>TCA382802253KMT2Ac.6671G>T (p.Arg2224Leu)
c.6662G>T (p.Arg2221Leu)
c.611G>T (p.Arg204Leu)
c.869G>T (p.Arg290Leu)
c.6644G>T (p.Arg2215Leu)
c.6563G>T (p.Arg2188Leu)
n.5914G>T
c.6572G>T (p.Arg2191Leu)
c.6449G>T (p.Arg2150Leu)
n.699G>T
c.4055G>T (p.Arg1352Leu)
c.6668G>T (p.Arg2223Leu)
c.4478G>T (p.Arg1493Leu)
c.4154G>T (p.Arg1385Leu)
11g.118502465A>CCA477093452KMT2Ac.6672A>C (p.Arg2224=)
c.6663A>C (p.Arg2221=)
c.612A>C (p.Arg204=)
c.870A>C (p.Arg290=)
c.6645A>C (p.Arg2215=)
c.6564A>C (p.Arg2188=)
n.5915A>C
c.6573A>C (p.Arg2191=)
c.6450A>C (p.Arg2150=)
n.700A>C
c.4056A>C (p.Arg1352=)
c.6669A>C (p.Arg2223=)
c.4479A>C (p.Arg1493=)
c.4155A>C (p.Arg1385=)
11g.118502465A>GCA477093453KMT2Ac.6672A>G (p.Arg2224=)
c.6663A>G (p.Arg2221=)
c.612A>G (p.Arg204=)
c.870A>G (p.Arg290=)
c.6645A>G (p.Arg2215=)
c.6564A>G (p.Arg2188=)
n.5915A>G
c.6573A>G (p.Arg2191=)
c.6450A>G (p.Arg2150=)
n.700A>G
c.4056A>G (p.Arg1352=)
c.6669A>G (p.Arg2223=)
c.4479A>G (p.Arg1493=)
c.4155A>G (p.Arg1385=)
11g.118502465A>TCA477093454KMT2Ac.6672A>T (p.Arg2224=)
c.6663A>T (p.Arg2221=)
c.612A>T (p.Arg204=)
c.870A>T (p.Arg290=)
c.6645A>T (p.Arg2215=)
c.6564A>T (p.Arg2188=)
n.5915A>T
c.6573A>T (p.Arg2191=)
c.6450A>T (p.Arg2150=)
n.700A>T
c.4056A>T (p.Arg1352=)
c.6669A>T (p.Arg2223=)
c.4479A>T (p.Arg1493=)
c.4155A>T (p.Arg1385=)
11g.118502466A>CCA382802256KMT2Ac.6673A>C (p.Ser2225Arg)
c.6664A>C (p.Ser2222Arg)
c.613A>C (p.Ser205Arg)
c.871A>C (p.Ser291Arg)
c.6646A>C (p.Ser2216Arg)
c.6565A>C (p.Ser2189Arg)
n.5916A>C
c.6574A>C (p.Ser2192Arg)
c.6451A>C (p.Ser2151Arg)
n.701A>C
c.4057A>C (p.Ser1353Arg)
c.6670A>C (p.Ser2224Arg)
c.4480A>C (p.Ser1494Arg)
c.4156A>C (p.Ser1386Arg)
11g.118502466A>GCA382802258KMT2Ac.6673A>G (p.Ser2225Gly)
c.6664A>G (p.Ser2222Gly)
c.613A>G (p.Ser205Gly)
c.871A>G (p.Ser291Gly)
c.6646A>G (p.Ser2216Gly)
c.6565A>G (p.Ser2189Gly)
n.5916A>G
c.6574A>G (p.Ser2192Gly)
c.6451A>G (p.Ser2151Gly)
n.701A>G
c.4057A>G (p.Ser1353Gly)
c.6670A>G (p.Ser2224Gly)
c.4480A>G (p.Ser1494Gly)
c.4156A>G (p.Ser1386Gly)
11g.118502466A>TCA382802255KMT2Ac.6673A>T (p.Ser2225Cys)
c.6664A>T (p.Ser2222Cys)
c.613A>T (p.Ser205Cys)
c.871A>T (p.Ser291Cys)
c.6646A>T (p.Ser2216Cys)
c.6565A>T (p.Ser2189Cys)
n.5916A>T
c.6574A>T (p.Ser2192Cys)
c.6451A>T (p.Ser2151Cys)
n.701A>T
c.4057A>T (p.Ser1353Cys)
c.6670A>T (p.Ser2224Cys)
c.4480A>T (p.Ser1494Cys)
c.4156A>T (p.Ser1386Cys)
11g.118502467G>ACA382802261KMT2Ac.6674G>A (p.Ser2225Asn)
c.6665G>A (p.Ser2222Asn)
c.614G>A (p.Ser205Asn)
c.872G>A (p.Ser291Asn)
c.6647G>A (p.Ser2216Asn)
c.6566G>A (p.Ser2189Asn)
n.5917G>A
c.6575G>A (p.Ser2192Asn)
c.6452G>A (p.Ser2151Asn)
n.702G>A
c.4058G>A (p.Ser1353Asn)
c.6671G>A (p.Ser2224Asn)
c.4481G>A (p.Ser1494Asn)
c.4157G>A (p.Ser1386Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.118502467G>CCA382802263KMT2Ac.6674G>C (p.Ser2225Thr)
c.6665G>C (p.Ser2222Thr)
c.614G>C (p.Ser205Thr)
c.872G>C (p.Ser291Thr)
c.6647G>C (p.Ser2216Thr)
c.6566G>C (p.Ser2189Thr)
n.5917G>C
c.6575G>C (p.Ser2192Thr)
c.6452G>C (p.Ser2151Thr)
n.702G>C
c.4058G>C (p.Ser1353Thr)
c.6671G>C (p.Ser2224Thr)
c.4481G>C (p.Ser1494Thr)
c.4157G>C (p.Ser1386Thr)
11g.118502467G=CA2003526245KMT2Ac.6674G= (p.Ser2225=)
c.6665G= (p.Ser2222=)
c.614G= (p.Ser205=)
c.872G= (p.Ser291=)
c.6647G= (p.Ser2216=)
c.6566G= (p.Ser2189=)
n.5917G=
c.6575G= (p.Ser2192=)
c.6452G= (p.Ser2151=)
n.702G=
c.4058G= (p.Ser1353=)
c.6671G= (p.Ser2224=)
c.4481G= (p.Ser1494=)
c.4157G= (p.Ser1386=)
11g.118502467G>TCA382802262KMT2Ac.6674G>T (p.Ser2225Ile)
c.6665G>T (p.Ser2222Ile)
c.614G>T (p.Ser205Ile)
c.872G>T (p.Ser291Ile)
c.6647G>T (p.Ser2216Ile)
c.6566G>T (p.Ser2189Ile)
n.5917G>T
c.6575G>T (p.Ser2192Ile)
c.6452G>T (p.Ser2151Ile)
n.702G>T
c.4058G>T (p.Ser1353Ile)
c.6671G>T (p.Ser2224Ile)
c.4481G>T (p.Ser1494Ile)
c.4157G>T (p.Ser1386Ile)
11g.118502469_118502474delCA2573147036KMT2Ac.6676_6681del (p.Ile2226_Gly2227del)
c.6667_6672del (p.Ile2223_Gly2224del)
c.616_621del (p.Ile206_Gly207del)
c.874_879del (p.Ile292_Gly293del)
c.6649_6654del (p.Ile2217_Gly2218del)
c.6568_6573del (p.Ile2190_Gly2191del)
n.5919_5924del
c.6577_6582del (p.Ile2193_Gly2194del)
c.6454_6459del (p.Ile2152_Gly2153del)
n.704_709del
c.4060_4065del (p.Ile1354_Gly1355del)
c.6673_6678del (p.Ile2225_Gly2226del)
c.4483_4488del (p.Ile1495_Gly1496del)
c.4159_4164del (p.Ile1387_Gly1388del)
 ClinVar dbSNP
11g.118502468C>ACA382802266KMT2Ac.6675C>A (p.Ser2225Arg)
c.6666C>A (p.Ser2222Arg)
c.615C>A (p.Ser205Arg)
c.873C>A (p.Ser291Arg)
c.6648C>A (p.Ser2216Arg)
c.6567C>A (p.Ser2189Arg)
n.5918C>A
c.6576C>A (p.Ser2192Arg)
c.6453C>A (p.Ser2151Arg)
n.703C>A
c.4059C>A (p.Ser1353Arg)
c.6672C>A (p.Ser2224Arg)
c.4482C>A (p.Ser1494Arg)
c.4158C>A (p.Ser1386Arg)
11g.118502468C=CA2003526249KMT2Ac.6675C= (p.Ser2225=)
c.6666C= (p.Ser2222=)
c.615C= (p.Ser205=)
c.873C= (p.Ser291=)
c.6648C= (p.Ser2216=)
c.6567C= (p.Ser2189=)
n.5918C=
c.6576C= (p.Ser2192=)
c.6453C= (p.Ser2151=)
n.703C=
c.4059C= (p.Ser1353=)
c.6672C= (p.Ser2224=)
c.4482C= (p.Ser1494=)
c.4158C= (p.Ser1386=)
11g.118502468C>GCA382802267KMT2Ac.6675C>G (p.Ser2225Arg)
c.6666C>G (p.Ser2222Arg)
c.615C>G (p.Ser205Arg)
c.873C>G (p.Ser291Arg)
c.6648C>G (p.Ser2216Arg)
c.6567C>G (p.Ser2189Arg)
n.5918C>G
c.6576C>G (p.Ser2192Arg)
c.6453C>G (p.Ser2151Arg)
n.703C>G
c.4059C>G (p.Ser1353Arg)
c.6672C>G (p.Ser2224Arg)
c.4482C>G (p.Ser1494Arg)
c.4158C>G (p.Ser1386Arg)
11g.118502468C>TCA6304272KMT2Ac.6675C>T (p.Ser2225=)
c.6666C>T (p.Ser2222=)
c.615C>T (p.Ser205=)
c.873C>T (p.Ser291=)
c.6648C>T (p.Ser2216=)
c.6567C>T (p.Ser2189=)
n.5918C>T
c.6576C>T (p.Ser2192=)
c.6453C>T (p.Ser2151=)
n.703C>T
c.4059C>T (p.Ser1353=)
c.6672C>T (p.Ser2224=)
c.4482C>T (p.Ser1494=)
c.4158C>T (p.Ser1386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502469A>CCA382802269KMT2Ac.6676A>C (p.Ile2226Leu)
c.6667A>C (p.Ile2223Leu)
c.616A>C (p.Ile206Leu)
c.874A>C (p.Ile292Leu)
c.6649A>C (p.Ile2217Leu)
c.6568A>C (p.Ile2190Leu)
n.5919A>C
c.6577A>C (p.Ile2193Leu)
c.6454A>C (p.Ile2152Leu)
n.704A>C
c.4060A>C (p.Ile1354Leu)
c.6673A>C (p.Ile2225Leu)
c.4483A>C (p.Ile1495Leu)
c.4159A>C (p.Ile1387Leu)
11g.118502469A>GCA382802270KMT2Ac.6676A>G (p.Ile2226Val)
c.6667A>G (p.Ile2223Val)
c.616A>G (p.Ile206Val)
c.874A>G (p.Ile292Val)
c.6649A>G (p.Ile2217Val)
c.6568A>G (p.Ile2190Val)
n.5919A>G
c.6577A>G (p.Ile2193Val)
c.6454A>G (p.Ile2152Val)
n.704A>G
c.4060A>G (p.Ile1354Val)
c.6673A>G (p.Ile2225Val)
c.4483A>G (p.Ile1495Val)
c.4159A>G (p.Ile1387Val)
11g.118502469A>TCA382802271KMT2Ac.6676A>T (p.Ile2226Phe)
c.6667A>T (p.Ile2223Phe)
c.616A>T (p.Ile206Phe)
c.874A>T (p.Ile292Phe)
c.6649A>T (p.Ile2217Phe)
c.6568A>T (p.Ile2190Phe)
n.5919A>T
c.6577A>T (p.Ile2193Phe)
c.6454A>T (p.Ile2152Phe)
n.704A>T
c.4060A>T (p.Ile1354Phe)
c.6673A>T (p.Ile2225Phe)
c.4483A>T (p.Ile1495Phe)
c.4159A>T (p.Ile1387Phe)
11g.118502470T>ACA382802274KMT2Ac.6677T>A (p.Ile2226Asn)
c.6668T>A (p.Ile2223Asn)
c.617T>A (p.Ile206Asn)
c.875T>A (p.Ile292Asn)
c.6650T>A (p.Ile2217Asn)
c.6569T>A (p.Ile2190Asn)
n.5920T>A
c.6578T>A (p.Ile2193Asn)
c.6455T>A (p.Ile2152Asn)
n.705T>A
c.4061T>A (p.Ile1354Asn)
c.6674T>A (p.Ile2225Asn)
c.4484T>A (p.Ile1495Asn)
c.4160T>A (p.Ile1387Asn)
11g.118502470T>CCA382802276KMT2Ac.6677T>C (p.Ile2226Thr)
c.6668T>C (p.Ile2223Thr)
c.617T>C (p.Ile206Thr)
c.875T>C (p.Ile292Thr)
c.6650T>C (p.Ile2217Thr)
c.6569T>C (p.Ile2190Thr)
n.5920T>C
c.6578T>C (p.Ile2193Thr)
c.6455T>C (p.Ile2152Thr)
n.705T>C
c.4061T>C (p.Ile1354Thr)
c.6674T>C (p.Ile2225Thr)
c.4484T>C (p.Ile1495Thr)
c.4160T>C (p.Ile1387Thr)
 gnomAD v4
11g.118502470T>GCA382802277KMT2Ac.6677T>G (p.Ile2226Ser)
c.6668T>G (p.Ile2223Ser)
c.617T>G (p.Ile206Ser)
c.875T>G (p.Ile292Ser)
c.6650T>G (p.Ile2217Ser)
c.6569T>G (p.Ile2190Ser)
n.5920T>G
c.6578T>G (p.Ile2193Ser)
c.6455T>G (p.Ile2152Ser)
n.705T>G
c.4061T>G (p.Ile1354Ser)
c.6674T>G (p.Ile2225Ser)
c.4484T>G (p.Ile1495Ser)
c.4160T>G (p.Ile1387Ser)
11g.118502471T>ACA477093455KMT2Ac.6678T>A (p.Ile2226=)
c.6669T>A (p.Ile2223=)
c.618T>A (p.Ile206=)
c.876T>A (p.Ile292=)
c.6651T>A (p.Ile2217=)
c.6570T>A (p.Ile2190=)
n.5921T>A
c.6579T>A (p.Ile2193=)
c.6456T>A (p.Ile2152=)
n.706T>A
c.4062T>A (p.Ile1354=)
c.6675T>A (p.Ile2225=)
c.4485T>A (p.Ile1495=)
c.4161T>A (p.Ile1387=)
11g.118502471T>CCA477093456KMT2Ac.6678T>C (p.Ile2226=)
c.6669T>C (p.Ile2223=)
c.618T>C (p.Ile206=)
c.876T>C (p.Ile292=)
c.6651T>C (p.Ile2217=)
c.6570T>C (p.Ile2190=)
n.5921T>C
c.6579T>C (p.Ile2193=)
c.6456T>C (p.Ile2152=)
n.706T>C
c.4062T>C (p.Ile1354=)
c.6675T>C (p.Ile2225=)
c.4485T>C (p.Ile1495=)
c.4161T>C (p.Ile1387=)
11g.118502471T>GCA382802279KMT2Ac.6678T>G (p.Ile2226Met)
c.6669T>G (p.Ile2223Met)
c.618T>G (p.Ile206Met)
c.876T>G (p.Ile292Met)
c.6651T>G (p.Ile2217Met)
c.6570T>G (p.Ile2190Met)
n.5921T>G
c.6579T>G (p.Ile2193Met)
c.6456T>G (p.Ile2152Met)
n.706T>G
c.4062T>G (p.Ile1354Met)
c.6675T>G (p.Ile2225Met)
c.4485T>G (p.Ile1495Met)
c.4161T>G (p.Ile1387Met)
11g.118502472G>ACA382802281KMT2Ac.6679G>A (p.Gly2227Ser)
c.6670G>A (p.Gly2224Ser)
c.619G>A (p.Gly207Ser)
c.877G>A (p.Gly293Ser)
c.6652G>A (p.Gly2218Ser)
c.6571G>A (p.Gly2191Ser)
n.5922G>A
c.6580G>A (p.Gly2194Ser)
c.6457G>A (p.Gly2153Ser)
n.707G>A
c.4063G>A (p.Gly1355Ser)
c.6676G>A (p.Gly2226Ser)
c.4486G>A (p.Gly1496Ser)
c.4162G>A (p.Gly1388Ser)
11g.118502472G>CCA382802283KMT2Ac.6679G>C (p.Gly2227Arg)
c.6670G>C (p.Gly2224Arg)
c.619G>C (p.Gly207Arg)
c.877G>C (p.Gly293Arg)
c.6652G>C (p.Gly2218Arg)
c.6571G>C (p.Gly2191Arg)
n.5922G>C
c.6580G>C (p.Gly2194Arg)
c.6457G>C (p.Gly2153Arg)
n.707G>C
c.4063G>C (p.Gly1355Arg)
c.6676G>C (p.Gly2226Arg)
c.4486G>C (p.Gly1496Arg)
c.4162G>C (p.Gly1388Arg)
11g.118502472G>TCA382802284KMT2Ac.6679G>T (p.Gly2227Cys)
c.6670G>T (p.Gly2224Cys)
c.619G>T (p.Gly207Cys)
c.877G>T (p.Gly293Cys)
c.6652G>T (p.Gly2218Cys)
c.6571G>T (p.Gly2191Cys)
n.5922G>T
c.6580G>T (p.Gly2194Cys)
c.6457G>T (p.Gly2153Cys)
n.707G>T
c.4063G>T (p.Gly1355Cys)
c.6676G>T (p.Gly2226Cys)
c.4486G>T (p.Gly1496Cys)
c.4162G>T (p.Gly1388Cys)
 dbSNP
11g.118502473G>ACA382802286KMT2Ac.6680G>A (p.Gly2227Asp)
c.6671G>A (p.Gly2224Asp)
c.620G>A (p.Gly207Asp)
c.878G>A (p.Gly293Asp)
c.6653G>A (p.Gly2218Asp)
c.6572G>A (p.Gly2191Asp)
n.5923G>A
c.6581G>A (p.Gly2194Asp)
c.6458G>A (p.Gly2153Asp)
n.708G>A
c.4064G>A (p.Gly1355Asp)
c.6677G>A (p.Gly2226Asp)
c.4487G>A (p.Gly1496Asp)
c.4163G>A (p.Gly1388Asp)
 dbSNP
11g.118502473G>CCA382802290KMT2Ac.6680G>C (p.Gly2227Ala)
c.6671G>C (p.Gly2224Ala)
c.620G>C (p.Gly207Ala)
c.878G>C (p.Gly293Ala)
c.6653G>C (p.Gly2218Ala)
c.6572G>C (p.Gly2191Ala)
n.5923G>C
c.6581G>C (p.Gly2194Ala)
c.6458G>C (p.Gly2153Ala)
n.708G>C
c.4064G>C (p.Gly1355Ala)
c.6677G>C (p.Gly2226Ala)
c.4487G>C (p.Gly1496Ala)
c.4163G>C (p.Gly1388Ala)
 dbSNP
11g.118502473G>TCA382802288KMT2Ac.6680G>T (p.Gly2227Val)
c.6671G>T (p.Gly2224Val)
c.620G>T (p.Gly207Val)
c.878G>T (p.Gly293Val)
c.6653G>T (p.Gly2218Val)
c.6572G>T (p.Gly2191Val)
n.5923G>T
c.6581G>T (p.Gly2194Val)
c.6458G>T (p.Gly2153Val)
n.708G>T
c.4064G>T (p.Gly1355Val)
c.6677G>T (p.Gly2226Val)
c.4487G>T (p.Gly1496Val)
c.4163G>T (p.Gly1388Val)
 dbSNP
11g.118502474C>ACA477093457KMT2Ac.6681C>A (p.Gly2227=)
c.6672C>A (p.Gly2224=)
c.621C>A (p.Gly207=)
c.879C>A (p.Gly293=)
c.6654C>A (p.Gly2218=)
c.6573C>A (p.Gly2191=)
n.5924C>A
c.6582C>A (p.Gly2194=)
c.6459C>A (p.Gly2153=)
n.709C>A
c.4065C>A (p.Gly1355=)
c.6678C>A (p.Gly2226=)
c.4488C>A (p.Gly1496=)
c.4164C>A (p.Gly1388=)
11g.118502474C=CA2003526253KMT2Ac.6681C= (p.Gly2227=)
c.6672C= (p.Gly2224=)
c.621C= (p.Gly207=)
c.879C= (p.Gly293=)
c.6654C= (p.Gly2218=)
c.6573C= (p.Gly2191=)
n.5924C=
c.6582C= (p.Gly2194=)
c.6459C= (p.Gly2153=)
n.709C=
c.4065C= (p.Gly1355=)
c.6678C= (p.Gly2226=)
c.4488C= (p.Gly1496=)
c.4164C= (p.Gly1388=)
11g.118502474C>GCA477093458KMT2Ac.6681C>G (p.Gly2227=)
c.6672C>G (p.Gly2224=)
c.621C>G (p.Gly207=)
c.879C>G (p.Gly293=)
c.6654C>G (p.Gly2218=)
c.6573C>G (p.Gly2191=)
n.5924C>G
c.6582C>G (p.Gly2194=)
c.6459C>G (p.Gly2153=)
n.709C>G
c.4065C>G (p.Gly1355=)
c.6678C>G (p.Gly2226=)
c.4488C>G (p.Gly1496=)
c.4164C>G (p.Gly1388=)
11g.118502474C>TCA477093459KMT2Ac.6681C>T (p.Gly2227=)
c.6672C>T (p.Gly2224=)
c.621C>T (p.Gly207=)
c.879C>T (p.Gly293=)
c.6654C>T (p.Gly2218=)
c.6573C>T (p.Gly2191=)
n.5924C>T
c.6582C>T (p.Gly2194=)
c.6459C>T (p.Gly2153=)
n.709C>T
c.4065C>T (p.Gly1355=)
c.6678C>T (p.Gly2226=)
c.4488C>T (p.Gly1496=)
c.4164C>T (p.Gly1388=)
 dbSNP
11g.118502475T>ACA382802291KMT2Ac.6682T>A (p.Ser2228Thr)
c.6673T>A (p.Ser2225Thr)
c.622T>A (p.Ser208Thr)
c.880T>A (p.Ser294Thr)
c.6655T>A (p.Ser2219Thr)
c.6574T>A (p.Ser2192Thr)
n.5925T>A
c.6583T>A (p.Ser2195Thr)
c.6460T>A (p.Ser2154Thr)
n.710T>A
c.4066T>A (p.Ser1356Thr)
c.6679T>A (p.Ser2227Thr)
c.4489T>A (p.Ser1497Thr)
c.4165T>A (p.Ser1389Thr)
11g.118502475T>CCA382802293KMT2Ac.6682T>C (p.Ser2228Pro)
c.6673T>C (p.Ser2225Pro)
c.622T>C (p.Ser208Pro)
c.880T>C (p.Ser294Pro)
c.6655T>C (p.Ser2219Pro)
c.6574T>C (p.Ser2192Pro)
n.5925T>C
c.6583T>C (p.Ser2195Pro)
c.6460T>C (p.Ser2154Pro)
n.710T>C
c.4066T>C (p.Ser1356Pro)
c.6679T>C (p.Ser2227Pro)
c.4489T>C (p.Ser1497Pro)
c.4165T>C (p.Ser1389Pro)
 dbSNP
11g.118502475T>GCA382802295KMT2Ac.6682T>G (p.Ser2228Ala)
c.6673T>G (p.Ser2225Ala)
c.622T>G (p.Ser208Ala)
c.880T>G (p.Ser294Ala)
c.6655T>G (p.Ser2219Ala)
c.6574T>G (p.Ser2192Ala)
n.5925T>G
c.6583T>G (p.Ser2195Ala)
c.6460T>G (p.Ser2154Ala)
n.710T>G
c.4066T>G (p.Ser1356Ala)
c.6679T>G (p.Ser2227Ala)
c.4489T>G (p.Ser1497Ala)
c.4165T>G (p.Ser1389Ala)
11g.118502475T=CA2003526258KMT2Ac.6682T= (p.Ser2228=)
c.6673T= (p.Ser2225=)
c.622T= (p.Ser208=)
c.880T= (p.Ser294=)
c.6655T= (p.Ser2219=)
c.6574T= (p.Ser2192=)
n.5925T=
c.6583T= (p.Ser2195=)
c.6460T= (p.Ser2154=)
n.710T=
c.4066T= (p.Ser1356=)
c.6679T= (p.Ser2227=)
c.4489T= (p.Ser1497=)
c.4165T= (p.Ser1389=)
11g.118502476C>ACA382802297KMT2Ac.6683C>A (p.Ser2228Tyr)
c.6674C>A (p.Ser2225Tyr)
c.623C>A (p.Ser208Tyr)
c.881C>A (p.Ser294Tyr)
c.6656C>A (p.Ser2219Tyr)
c.6575C>A (p.Ser2192Tyr)
n.5926C>A
c.6584C>A (p.Ser2195Tyr)
c.6461C>A (p.Ser2154Tyr)
n.711C>A
c.4067C>A (p.Ser1356Tyr)
c.6680C>A (p.Ser2227Tyr)
c.4490C>A (p.Ser1497Tyr)
c.4166C>A (p.Ser1389Tyr)
 gnomAD v4
11g.118502476C=CA2003526261KMT2Ac.6683C= (p.Ser2228=)
c.6674C= (p.Ser2225=)
c.623C= (p.Ser208=)
c.881C= (p.Ser294=)
c.6656C= (p.Ser2219=)
c.6575C= (p.Ser2192=)
n.5926C=
c.6584C= (p.Ser2195=)
c.6461C= (p.Ser2154=)
n.711C=
c.4067C= (p.Ser1356=)
c.6680C= (p.Ser2227=)
c.4490C= (p.Ser1497=)
c.4166C= (p.Ser1389=)
11g.118502476C>GCA382802299KMT2Ac.6683C>G (p.Ser2228Cys)
c.6674C>G (p.Ser2225Cys)
c.623C>G (p.Ser208Cys)
c.881C>G (p.Ser294Cys)
c.6656C>G (p.Ser2219Cys)
c.6575C>G (p.Ser2192Cys)
n.5926C>G
c.6584C>G (p.Ser2195Cys)
c.6461C>G (p.Ser2154Cys)
n.711C>G
c.4067C>G (p.Ser1356Cys)
c.6680C>G (p.Ser2227Cys)
c.4490C>G (p.Ser1497Cys)
c.4166C>G (p.Ser1389Cys)
 dbSNP
11g.118502476C>TCA382802300KMT2Ac.6683C>T (p.Ser2228Phe)
c.6674C>T (p.Ser2225Phe)
c.623C>T (p.Ser208Phe)
c.881C>T (p.Ser294Phe)
c.6656C>T (p.Ser2219Phe)
c.6575C>T (p.Ser2192Phe)
n.5926C>T
c.6584C>T (p.Ser2195Phe)
c.6461C>T (p.Ser2154Phe)
n.711C>T
c.4067C>T (p.Ser1356Phe)
c.6680C>T (p.Ser2227Phe)
c.4490C>T (p.Ser1497Phe)
c.4166C>T (p.Ser1389Phe)
11g.118502477C>ACA477093460KMT2Ac.6684C>A (p.Ser2228=)
c.6675C>A (p.Ser2225=)
c.624C>A (p.Ser208=)
c.882C>A (p.Ser294=)
c.6657C>A (p.Ser2219=)
c.6576C>A (p.Ser2192=)
n.5927C>A
c.6585C>A (p.Ser2195=)
c.6462C>A (p.Ser2154=)
n.712C>A
c.4068C>A (p.Ser1356=)
c.6681C>A (p.Ser2227=)
c.4491C>A (p.Ser1497=)
c.4167C>A (p.Ser1389=)
11g.118502477C>GCA477093461KMT2Ac.6684C>G (p.Ser2228=)
c.6675C>G (p.Ser2225=)
c.624C>G (p.Ser208=)
c.882C>G (p.Ser294=)
c.6657C>G (p.Ser2219=)
c.6576C>G (p.Ser2192=)
n.5927C>G
c.6585C>G (p.Ser2195=)
c.6462C>G (p.Ser2154=)
n.712C>G
c.4068C>G (p.Ser1356=)
c.6681C>G (p.Ser2227=)
c.4491C>G (p.Ser1497=)
c.4167C>G (p.Ser1389=)
11g.118502477C>TCA477093462KMT2Ac.6684C>T (p.Ser2228=)
c.6675C>T (p.Ser2225=)
c.624C>T (p.Ser208=)
c.882C>T (p.Ser294=)
c.6657C>T (p.Ser2219=)
c.6576C>T (p.Ser2192=)
n.5927C>T
c.6585C>T (p.Ser2195=)
c.6462C>T (p.Ser2154=)
n.712C>T
c.4068C>T (p.Ser1356=)
c.6681C>T (p.Ser2227=)
c.4491C>T (p.Ser1497=)
c.4167C>T (p.Ser1389=)
11g.118502478A=CA2003526266KMT2Ac.6685A= (p.Arg2229=)
c.6676A= (p.Arg2226=)
c.625A= (p.Arg209=)
c.883A= (p.Arg295=)
c.6658A= (p.Arg2220=)
c.6577A= (p.Arg2193=)
n.5928A=
c.6586A= (p.Arg2196=)
c.6463A= (p.Arg2155=)
n.713A=
c.4069A= (p.Arg1357=)
c.6682A= (p.Arg2228=)
c.4492A= (p.Arg1498=)
c.4168A= (p.Arg1390=)
11g.118502478A>CCA477093463KMT2Ac.6685A>C (p.Arg2229=)
c.6676A>C (p.Arg2226=)
c.625A>C (p.Arg209=)
c.883A>C (p.Arg295=)
c.6658A>C (p.Arg2220=)
c.6577A>C (p.Arg2193=)
n.5928A>C
c.6586A>C (p.Arg2196=)
c.6463A>C (p.Arg2155=)
n.713A>C
c.4069A>C (p.Arg1357=)
c.6682A>C (p.Arg2228=)
c.4492A>C (p.Arg1498=)
c.4168A>C (p.Arg1390=)
 dbSNP
11g.118502478A>GCA382802303KMT2Ac.6685A>G (p.Arg2229Gly)
c.6676A>G (p.Arg2226Gly)
c.625A>G (p.Arg209Gly)
c.883A>G (p.Arg295Gly)
c.6658A>G (p.Arg2220Gly)
c.6577A>G (p.Arg2193Gly)
n.5928A>G
c.6586A>G (p.Arg2196Gly)
c.6463A>G (p.Arg2155Gly)
n.713A>G
c.4069A>G (p.Arg1357Gly)
c.6682A>G (p.Arg2228Gly)
c.4492A>G (p.Arg1498Gly)
c.4168A>G (p.Arg1390Gly)
 gnomAD v4
11g.118502478A>TCA382802305KMT2Ac.6685A>T (p.Arg2229Trp)
c.6676A>T (p.Arg2226Trp)
c.625A>T (p.Arg209Trp)
c.883A>T (p.Arg295Trp)
c.6658A>T (p.Arg2220Trp)
c.6577A>T (p.Arg2193Trp)
n.5928A>T
c.6586A>T (p.Arg2196Trp)
c.6463A>T (p.Arg2155Trp)
n.713A>T
c.4069A>T (p.Arg1357Trp)
c.6682A>T (p.Arg2228Trp)
c.4492A>T (p.Arg1498Trp)
c.4168A>T (p.Arg1390Trp)
11g.118502479G>ACA382802307KMT2Ac.6686G>A (p.Arg2229Lys)
c.6677G>A (p.Arg2226Lys)
c.626G>A (p.Arg209Lys)
c.884G>A (p.Arg295Lys)
c.6659G>A (p.Arg2220Lys)
c.6578G>A (p.Arg2193Lys)
n.5929G>A
c.6587G>A (p.Arg2196Lys)
c.6464G>A (p.Arg2155Lys)
n.714G>A
c.4070G>A (p.Arg1357Lys)
c.6683G>A (p.Arg2228Lys)
c.4493G>A (p.Arg1498Lys)
c.4169G>A (p.Arg1390Lys)
11g.118502479G>CCA382802309KMT2Ac.6686G>C (p.Arg2229Thr)
c.6677G>C (p.Arg2226Thr)
c.626G>C (p.Arg209Thr)
c.884G>C (p.Arg295Thr)
c.6659G>C (p.Arg2220Thr)
c.6578G>C (p.Arg2193Thr)
n.5929G>C
c.6587G>C (p.Arg2196Thr)
c.6464G>C (p.Arg2155Thr)
n.714G>C
c.4070G>C (p.Arg1357Thr)
c.6683G>C (p.Arg2228Thr)
c.4493G>C (p.Arg1498Thr)
c.4169G>C (p.Arg1390Thr)
11g.118502479G>TCA382802311KMT2Ac.6686G>T (p.Arg2229Met)
c.6677G>T (p.Arg2226Met)
c.626G>T (p.Arg209Met)
c.884G>T (p.Arg295Met)
c.6659G>T (p.Arg2220Met)
c.6578G>T (p.Arg2193Met)
n.5929G>T
c.6587G>T (p.Arg2196Met)
c.6464G>T (p.Arg2155Met)
n.714G>T
c.4070G>T (p.Arg1357Met)
c.6683G>T (p.Arg2228Met)
c.4493G>T (p.Arg1498Met)
c.4169G>T (p.Arg1390Met)
11g.118502480G>ACA477093464KMT2Ac.6687G>A (p.Arg2229=)
c.6678G>A (p.Arg2226=)
c.627G>A (p.Arg209=)
c.885G>A (p.Arg295=)
c.6660G>A (p.Arg2220=)
c.6579G>A (p.Arg2193=)
n.5930G>A
c.6588G>A (p.Arg2196=)
c.6465G>A (p.Arg2155=)
n.715G>A
c.4071G>A (p.Arg1357=)
c.6684G>A (p.Arg2228=)
c.4494G>A (p.Arg1498=)
c.4170G>A (p.Arg1390=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118502480G>CCA382802312KMT2Ac.6687G>C (p.Arg2229Ser)
c.6678G>C (p.Arg2226Ser)
c.627G>C (p.Arg209Ser)
c.885G>C (p.Arg295Ser)
c.6660G>C (p.Arg2220Ser)
c.6579G>C (p.Arg2193Ser)
n.5930G>C
c.6588G>C (p.Arg2196Ser)
c.6465G>C (p.Arg2155Ser)
n.715G>C
c.4071G>C (p.Arg1357Ser)
c.6684G>C (p.Arg2228Ser)
c.4494G>C (p.Arg1498Ser)
c.4170G>C (p.Arg1390Ser)
11g.118502480G=CA2003526270KMT2Ac.6687G= (p.Arg2229=)
c.6678G= (p.Arg2226=)
c.627G= (p.Arg209=)
c.885G= (p.Arg295=)
c.6660G= (p.Arg2220=)
c.6579G= (p.Arg2193=)
n.5930G=
c.6588G= (p.Arg2196=)
c.6465G= (p.Arg2155=)
n.715G=
c.4071G= (p.Arg1357=)
c.6684G= (p.Arg2228=)
c.4494G= (p.Arg1498=)
c.4170G= (p.Arg1390=)
11g.118502480G>TCA382802314KMT2Ac.6687G>T (p.Arg2229Ser)
c.6678G>T (p.Arg2226Ser)
c.627G>T (p.Arg209Ser)
c.885G>T (p.Arg295Ser)
c.6660G>T (p.Arg2220Ser)
c.6579G>T (p.Arg2193Ser)
n.5930G>T
c.6588G>T (p.Arg2196Ser)
c.6465G>T (p.Arg2155Ser)
n.715G>T
c.4071G>T (p.Arg1357Ser)
c.6684G>T (p.Arg2228Ser)
c.4494G>T (p.Arg1498Ser)
c.4170G>T (p.Arg1390Ser)
11g.118502481C>ACA382802316KMT2Ac.6688C>A (p.Arg2230Ser)
c.6679C>A (p.Arg2227Ser)
c.628C>A (p.Arg210Ser)
c.886C>A (p.Arg296Ser)
c.6661C>A (p.Arg2221Ser)
c.6580C>A (p.Arg2194Ser)
n.5931C>A
c.6589C>A (p.Arg2197Ser)
c.6466C>A (p.Arg2156Ser)
n.716C>A
c.4072C>A (p.Arg1358Ser)
c.6685C>A (p.Arg2229Ser)
c.4495C>A (p.Arg1499Ser)
c.4171C>A (p.Arg1391Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.118502481C=CA2003526277KMT2Ac.6688C= (p.Arg2230=)
c.6679C= (p.Arg2227=)
c.628C= (p.Arg210=)
c.886C= (p.Arg296=)
c.6661C= (p.Arg2221=)
c.6580C= (p.Arg2194=)
n.5931C=
c.6589C= (p.Arg2197=)
c.6466C= (p.Arg2156=)
n.716C=
c.4072C= (p.Arg1358=)
c.6685C= (p.Arg2229=)
c.4495C= (p.Arg1499=)
c.4171C= (p.Arg1391=)
11g.118502481C>GCA382802317KMT2Ac.6688C>G (p.Arg2230Gly)
c.6679C>G (p.Arg2227Gly)
c.628C>G (p.Arg210Gly)
c.886C>G (p.Arg296Gly)
c.6661C>G (p.Arg2221Gly)
c.6580C>G (p.Arg2194Gly)
n.5931C>G
c.6589C>G (p.Arg2197Gly)
c.6466C>G (p.Arg2156Gly)
n.716C>G
c.4072C>G (p.Arg1358Gly)
c.6685C>G (p.Arg2229Gly)
c.4495C>G (p.Arg1499Gly)
c.4171C>G (p.Arg1391Gly)
11g.118502481C>TCA6304273KMT2Ac.6688C>T (p.Arg2230Cys)
c.6679C>T (p.Arg2227Cys)
c.628C>T (p.Arg210Cys)
c.886C>T (p.Arg296Cys)
c.6661C>T (p.Arg2221Cys)
c.6580C>T (p.Arg2194Cys)
n.5931C>T
c.6589C>T (p.Arg2197Cys)
c.6466C>T (p.Arg2156Cys)
n.716C>T
c.4072C>T (p.Arg1358Cys)
c.6685C>T (p.Arg2229Cys)
c.4495C>T (p.Arg1499Cys)
c.4171C>T (p.Arg1391Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502482G>ACA6304274KMT2Ac.6689G>A (p.Arg2230His)
c.6680G>A (p.Arg2227His)
c.629G>A (p.Arg210His)
c.887G>A (p.Arg296His)
c.6662G>A (p.Arg2221His)
c.6581G>A (p.Arg2194His)
n.5932G>A
c.6590G>A (p.Arg2197His)
c.6467G>A (p.Arg2156His)
n.717G>A
c.4073G>A (p.Arg1358His)
c.6686G>A (p.Arg2229His)
c.4496G>A (p.Arg1499His)
c.4172G>A (p.Arg1391His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502482G>CCA382802321KMT2Ac.6689G>C (p.Arg2230Pro)
c.6680G>C (p.Arg2227Pro)
c.629G>C (p.Arg210Pro)
c.887G>C (p.Arg296Pro)
c.6662G>C (p.Arg2221Pro)
c.6581G>C (p.Arg2194Pro)
n.5932G>C
c.6590G>C (p.Arg2197Pro)
c.6467G>C (p.Arg2156Pro)
n.717G>C
c.4073G>C (p.Arg1358Pro)
c.6686G>C (p.Arg2229Pro)
c.4496G>C (p.Arg1499Pro)
c.4172G>C (p.Arg1391Pro)
11g.118502482G=CA2003526283KMT2Ac.6689G= (p.Arg2230=)
c.6680G= (p.Arg2227=)
c.629G= (p.Arg210=)
c.887G= (p.Arg296=)
c.6662G= (p.Arg2221=)
c.6581G= (p.Arg2194=)
n.5932G=
c.6590G= (p.Arg2197=)
c.6467G= (p.Arg2156=)
n.717G=
c.4073G= (p.Arg1358=)
c.6686G= (p.Arg2229=)
c.4496G= (p.Arg1499=)
c.4172G= (p.Arg1391=)
11g.118502482G>TCA382802322KMT2Ac.6689G>T (p.Arg2230Leu)
c.6680G>T (p.Arg2227Leu)
c.629G>T (p.Arg210Leu)
c.887G>T (p.Arg296Leu)
c.6662G>T (p.Arg2221Leu)
c.6581G>T (p.Arg2194Leu)
n.5932G>T
c.6590G>T (p.Arg2197Leu)
c.6467G>T (p.Arg2156Leu)
n.717G>T
c.4073G>T (p.Arg1358Leu)
c.6686G>T (p.Arg2229Leu)
c.4496G>T (p.Arg1499Leu)
c.4172G>T (p.Arg1391Leu)
11g.118502483T>ACA477093466KMT2Ac.6690T>A (p.Arg2230=)
c.6681T>A (p.Arg2227=)
c.630T>A (p.Arg210=)
c.888T>A (p.Arg296=)
c.6663T>A (p.Arg2221=)
c.6582T>A (p.Arg2194=)
n.5933T>A
c.6591T>A (p.Arg2197=)
c.6468T>A (p.Arg2156=)
n.718T>A
c.4074T>A (p.Arg1358=)
c.6687T>A (p.Arg2229=)
c.4497T>A (p.Arg1499=)
c.4173T>A (p.Arg1391=)
 dbSNP
11g.118502483T>CCA6304275KMT2Ac.6690T>C (p.Arg2230=)
c.6681T>C (p.Arg2227=)
c.630T>C (p.Arg210=)
c.888T>C (p.Arg296=)
c.6663T>C (p.Arg2221=)
c.6582T>C (p.Arg2194=)
n.5933T>C
c.6591T>C (p.Arg2197=)
c.6468T>C (p.Arg2156=)
n.718T>C
c.4074T>C (p.Arg1358=)
c.6687T>C (p.Arg2229=)
c.4497T>C (p.Arg1499=)
c.4173T>C (p.Arg1391=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502483T>GCA477093465KMT2Ac.6690T>G (p.Arg2230=)
c.6681T>G (p.Arg2227=)
c.630T>G (p.Arg210=)
c.888T>G (p.Arg296=)
c.6663T>G (p.Arg2221=)
c.6582T>G (p.Arg2194=)
n.5933T>G
c.6591T>G (p.Arg2197=)
c.6468T>G (p.Arg2156=)
n.718T>G
c.4074T>G (p.Arg1358=)
c.6687T>G (p.Arg2229=)
c.4497T>G (p.Arg1499=)
c.4173T>G (p.Arg1391=)
11g.118502483T=CA2003526287KMT2Ac.6690T= (p.Arg2230=)
c.6681T= (p.Arg2227=)
c.630T= (p.Arg210=)
c.888T= (p.Arg296=)
c.6663T= (p.Arg2221=)
c.6582T= (p.Arg2194=)
n.5933T=
c.6591T= (p.Arg2197=)
c.6468T= (p.Arg2156=)
n.718T=
c.4074T= (p.Arg1358=)
c.6687T= (p.Arg2229=)
c.4497T= (p.Arg1499=)
c.4173T= (p.Arg1391=)
11g.118502484C>ACA382802326KMT2Ac.6691C>A (p.His2231Asn)
c.6682C>A (p.His2228Asn)
c.631C>A (p.His211Asn)
c.889C>A (p.His297Asn)
c.6664C>A (p.His2222Asn)
c.6583C>A (p.His2195Asn)
n.5934C>A
c.6592C>A (p.His2198Asn)
c.6469C>A (p.His2157Asn)
n.719C>A
c.4075C>A (p.His1359Asn)
c.6688C>A (p.His2230Asn)
c.4498C>A (p.His1500Asn)
c.4174C>A (p.His1392Asn)
11g.118502484C=CA2003526293KMT2Ac.6691C= (p.His2231=)
c.6682C= (p.His2228=)
c.631C= (p.His211=)
c.889C= (p.His297=)
c.6664C= (p.His2222=)
c.6583C= (p.His2195=)
n.5934C=
c.6592C= (p.His2198=)
c.6469C= (p.His2157=)
n.719C=
c.4075C= (p.His1359=)
c.6688C= (p.His2230=)
c.4498C= (p.His1500=)
c.4174C= (p.His1392=)
11g.118502484C>GCA382802327KMT2Ac.6691C>G (p.His2231Asp)
c.6682C>G (p.His2228Asp)
c.631C>G (p.His211Asp)
c.889C>G (p.His297Asp)
c.6664C>G (p.His2222Asp)
c.6583C>G (p.His2195Asp)
n.5934C>G
c.6592C>G (p.His2198Asp)
c.6469C>G (p.His2157Asp)
n.719C>G
c.4075C>G (p.His1359Asp)
c.6688C>G (p.His2230Asp)
c.4498C>G (p.His1500Asp)
c.4174C>G (p.His1392Asp)
 dbSNP
11g.118502484C>TCA6304276KMT2Ac.6691C>T (p.His2231Tyr)
c.6682C>T (p.His2228Tyr)
c.631C>T (p.His211Tyr)
c.889C>T (p.His297Tyr)
c.6664C>T (p.His2222Tyr)
c.6583C>T (p.His2195Tyr)
n.5934C>T
c.6592C>T (p.His2198Tyr)
c.6469C>T (p.His2157Tyr)
n.719C>T
c.4075C>T (p.His1359Tyr)
c.6688C>T (p.His2230Tyr)
c.4498C>T (p.His1500Tyr)
c.4174C>T (p.His1392Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502485A>CCA382802330KMT2Ac.6692A>C (p.His2231Pro)
c.6683A>C (p.His2228Pro)
c.632A>C (p.His211Pro)
c.890A>C (p.His297Pro)
c.6665A>C (p.His2222Pro)
c.6584A>C (p.His2195Pro)
n.5935A>C
c.6593A>C (p.His2198Pro)
c.6470A>C (p.His2157Pro)
n.720A>C
c.4076A>C (p.His1359Pro)
c.6689A>C (p.His2230Pro)
c.4499A>C (p.His1500Pro)
c.4175A>C (p.His1392Pro)
11g.118502485A>GCA382802331KMT2Ac.6692A>G (p.His2231Arg)
c.6683A>G (p.His2228Arg)
c.632A>G (p.His211Arg)
c.890A>G (p.His297Arg)
c.6665A>G (p.His2222Arg)
c.6584A>G (p.His2195Arg)
n.5935A>G
c.6593A>G (p.His2198Arg)
c.6470A>G (p.His2157Arg)
n.720A>G
c.4076A>G (p.His1359Arg)
c.6689A>G (p.His2230Arg)
c.4499A>G (p.His1500Arg)
c.4175A>G (p.His1392Arg)
11g.118502485A>TCA382802333KMT2Ac.6692A>T (p.His2231Leu)
c.6683A>T (p.His2228Leu)
c.632A>T (p.His211Leu)
c.890A>T (p.His297Leu)
c.6665A>T (p.His2222Leu)
c.6584A>T (p.His2195Leu)
n.5935A>T
c.6593A>T (p.His2198Leu)
c.6470A>T (p.His2157Leu)
n.720A>T
c.4076A>T (p.His1359Leu)
c.6689A>T (p.His2230Leu)
c.4499A>T (p.His1500Leu)
c.4175A>T (p.His1392Leu)
 dbSNP
11g.118502486C>ACA382802338KMT2Ac.6693C>A (p.His2231Gln)
c.6684C>A (p.His2228Gln)
c.633C>A (p.His211Gln)
c.891C>A (p.His297Gln)
c.6666C>A (p.His2222Gln)
c.6585C>A (p.His2195Gln)
n.5936C>A
c.6594C>A (p.His2198Gln)
c.6471C>A (p.His2157Gln)
n.721C>A
c.4077C>A (p.His1359Gln)
c.6690C>A (p.His2230Gln)
c.4500C>A (p.His1500Gln)
c.4176C>A (p.His1392Gln)
11g.118502486C=CA2003526297KMT2Ac.6693C= (p.His2231=)
c.6684C= (p.His2228=)
c.633C= (p.His211=)
c.891C= (p.His297=)
c.6666C= (p.His2222=)
c.6585C= (p.His2195=)
n.5936C=
c.6594C= (p.His2198=)
c.6471C= (p.His2157=)
n.721C=
c.4077C= (p.His1359=)
c.6690C= (p.His2230=)
c.4500C= (p.His1500=)
c.4176C= (p.His1392=)
11g.118502486C>GCA382802336KMT2Ac.6693C>G (p.His2231Gln)
c.6684C>G (p.His2228Gln)
c.633C>G (p.His211Gln)
c.891C>G (p.His297Gln)
c.6666C>G (p.His2222Gln)
c.6585C>G (p.His2195Gln)
n.5936C>G
c.6594C>G (p.His2198Gln)
c.6471C>G (p.His2157Gln)
n.721C>G
c.4077C>G (p.His1359Gln)
c.6690C>G (p.His2230Gln)
c.4500C>G (p.His1500Gln)
c.4176C>G (p.His1392Gln)
11g.118502486C>TCA6304277KMT2Ac.6693C>T (p.His2231=)
c.6684C>T (p.His2228=)
c.633C>T (p.His211=)
c.891C>T (p.His297=)
c.6666C>T (p.His2222=)
c.6585C>T (p.His2195=)
n.5936C>T
c.6594C>T (p.His2198=)
c.6471C>T (p.His2157=)
n.721C>T
c.4077C>T (p.His1359=)
c.6690C>T (p.His2230=)
c.4500C>T (p.His1500=)
c.4176C>T (p.His1392=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502487A>CCA382802342KMT2Ac.6694A>C (p.Ser2232Arg)
c.6685A>C (p.Ser2229Arg)
c.634A>C (p.Ser212Arg)
c.892A>C (p.Ser298Arg)
c.6667A>C (p.Ser2223Arg)
c.6586A>C (p.Ser2196Arg)
n.5937A>C
c.6595A>C (p.Ser2199Arg)
c.6472A>C (p.Ser2158Arg)
n.722A>C
c.4078A>C (p.Ser1360Arg)
c.6691A>C (p.Ser2231Arg)
c.4501A>C (p.Ser1501Arg)
c.4177A>C (p.Ser1393Arg)
 gnomAD v4
11g.118502487A>GCA382802343KMT2Ac.6694A>G (p.Ser2232Gly)
c.6685A>G (p.Ser2229Gly)
c.634A>G (p.Ser212Gly)
c.892A>G (p.Ser298Gly)
c.6667A>G (p.Ser2223Gly)
c.6586A>G (p.Ser2196Gly)
n.5937A>G
c.6595A>G (p.Ser2199Gly)
c.6472A>G (p.Ser2158Gly)
n.722A>G
c.4078A>G (p.Ser1360Gly)
c.6691A>G (p.Ser2231Gly)
c.4501A>G (p.Ser1501Gly)
c.4177A>G (p.Ser1393Gly)
11g.118502487A>TCA382802344KMT2Ac.6694A>T (p.Ser2232Cys)
c.6685A>T (p.Ser2229Cys)
c.634A>T (p.Ser212Cys)
c.892A>T (p.Ser298Cys)
c.6667A>T (p.Ser2223Cys)
c.6586A>T (p.Ser2196Cys)
n.5937A>T
c.6595A>T (p.Ser2199Cys)
c.6472A>T (p.Ser2158Cys)
n.722A>T
c.4078A>T (p.Ser1360Cys)
c.6691A>T (p.Ser2231Cys)
c.4501A>T (p.Ser1501Cys)
c.4177A>T (p.Ser1393Cys)
11g.118502488G>ACA382802345KMT2Ac.6695G>A (p.Ser2232Asn)
c.6686G>A (p.Ser2229Asn)
c.635G>A (p.Ser212Asn)
c.893G>A (p.Ser298Asn)
c.6668G>A (p.Ser2223Asn)
c.6587G>A (p.Ser2196Asn)
n.5938G>A
c.6596G>A (p.Ser2199Asn)
c.6473G>A (p.Ser2158Asn)
n.723G>A
c.4079G>A (p.Ser1360Asn)
c.6692G>A (p.Ser2231Asn)
c.4502G>A (p.Ser1501Asn)
c.4178G>A (p.Ser1393Asn)
 ClinVar dbSNP gnomAD v4
11g.118502488G>CCA382802347KMT2Ac.6695G>C (p.Ser2232Thr)
c.6686G>C (p.Ser2229Thr)
c.635G>C (p.Ser212Thr)
c.893G>C (p.Ser298Thr)
c.6668G>C (p.Ser2223Thr)
c.6587G>C (p.Ser2196Thr)
n.5938G>C
c.6596G>C (p.Ser2199Thr)
c.6473G>C (p.Ser2158Thr)
n.723G>C
c.4079G>C (p.Ser1360Thr)
c.6692G>C (p.Ser2231Thr)
c.4502G>C (p.Ser1501Thr)
c.4178G>C (p.Ser1393Thr)
11g.118502488G=CA2003526302KMT2Ac.6695G= (p.Ser2232=)
c.6686G= (p.Ser2229=)
c.635G= (p.Ser212=)
c.893G= (p.Ser298=)
c.6668G= (p.Ser2223=)
c.6587G= (p.Ser2196=)
n.5938G=
c.6596G= (p.Ser2199=)
c.6473G= (p.Ser2158=)
n.723G=
c.4079G= (p.Ser1360=)
c.6692G= (p.Ser2231=)
c.4502G= (p.Ser1501=)
c.4178G= (p.Ser1393=)
11g.118502488G>TCA382802349KMT2Ac.6695G>T (p.Ser2232Ile)
c.6686G>T (p.Ser2229Ile)
c.635G>T (p.Ser212Ile)
c.893G>T (p.Ser298Ile)
c.6668G>T (p.Ser2223Ile)
c.6587G>T (p.Ser2196Ile)
n.5938G>T
c.6596G>T (p.Ser2199Ile)
c.6473G>T (p.Ser2158Ile)
n.723G>T
c.4079G>T (p.Ser1360Ile)
c.6692G>T (p.Ser2231Ile)
c.4502G>T (p.Ser1501Ile)
c.4178G>T (p.Ser1393Ile)
 gnomAD v4
11g.118502489T>ACA382802350KMT2Ac.6696T>A (p.Ser2232Arg)
c.6687T>A (p.Ser2229Arg)
c.636T>A (p.Ser212Arg)
c.894T>A (p.Ser298Arg)
c.6669T>A (p.Ser2223Arg)
c.6588T>A (p.Ser2196Arg)
n.5939T>A
c.6597T>A (p.Ser2199Arg)
c.6474T>A (p.Ser2158Arg)
n.724T>A
c.4080T>A (p.Ser1360Arg)
c.6693T>A (p.Ser2231Arg)
c.4503T>A (p.Ser1501Arg)
c.4179T>A (p.Ser1393Arg)
11g.118502489T>CCA477093467KMT2Ac.6696T>C (p.Ser2232=)
c.6687T>C (p.Ser2229=)
c.636T>C (p.Ser212=)
c.894T>C (p.Ser298=)
c.6669T>C (p.Ser2223=)
c.6588T>C (p.Ser2196=)
n.5939T>C
c.6597T>C (p.Ser2199=)
c.6474T>C (p.Ser2158=)
n.724T>C
c.4080T>C (p.Ser1360=)
c.6693T>C (p.Ser2231=)
c.4503T>C (p.Ser1501=)
c.4179T>C (p.Ser1393=)
11g.118502489T>GCA382802352KMT2Ac.6696T>G (p.Ser2232Arg)
c.6687T>G (p.Ser2229Arg)
c.636T>G (p.Ser212Arg)
c.894T>G (p.Ser298Arg)
c.6669T>G (p.Ser2223Arg)
c.6588T>G (p.Ser2196Arg)
n.5939T>G
c.6597T>G (p.Ser2199Arg)
c.6474T>G (p.Ser2158Arg)
n.724T>G
c.4080T>G (p.Ser1360Arg)
c.6693T>G (p.Ser2231Arg)
c.4503T>G (p.Ser1501Arg)
c.4179T>G (p.Ser1393Arg)
11g.118502490A>CCA382802354KMT2Ac.6697A>C (p.Thr2233Pro)
c.6688A>C (p.Thr2230Pro)
c.637A>C (p.Thr213Pro)
c.895A>C (p.Thr299Pro)
c.6670A>C (p.Thr2224Pro)
c.6589A>C (p.Thr2197Pro)
n.5940A>C
c.6598A>C (p.Thr2200Pro)
c.6475A>C (p.Thr2159Pro)
n.725A>C
c.4081A>C (p.Thr1361Pro)
c.6694A>C (p.Thr2232Pro)
c.4504A>C (p.Thr1502Pro)
c.4180A>C (p.Thr1394Pro)
11g.118502490A>GCA382802355KMT2Ac.6697A>G (p.Thr2233Ala)
c.6688A>G (p.Thr2230Ala)
c.637A>G (p.Thr213Ala)
c.895A>G (p.Thr299Ala)
c.6670A>G (p.Thr2224Ala)
c.6589A>G (p.Thr2197Ala)
n.5940A>G
c.6598A>G (p.Thr2200Ala)
c.6475A>G (p.Thr2159Ala)
n.725A>G
c.4081A>G (p.Thr1361Ala)
c.6694A>G (p.Thr2232Ala)
c.4504A>G (p.Thr1502Ala)
c.4180A>G (p.Thr1394Ala)
11g.118502490A>TCA382802356KMT2Ac.6697A>T (p.Thr2233Ser)
c.6688A>T (p.Thr2230Ser)
c.637A>T (p.Thr213Ser)
c.895A>T (p.Thr299Ser)
c.6670A>T (p.Thr2224Ser)
c.6589A>T (p.Thr2197Ser)
n.5940A>T
c.6598A>T (p.Thr2200Ser)
c.6475A>T (p.Thr2159Ser)
n.725A>T
c.4081A>T (p.Thr1361Ser)
c.6694A>T (p.Thr2232Ser)
c.4504A>T (p.Thr1502Ser)
c.4180A>T (p.Thr1394Ser)
11g.118502491C>ACA6304278KMT2Ac.6698C>A (p.Thr2233Asn)
c.6689C>A (p.Thr2230Asn)
c.638C>A (p.Thr213Asn)
c.896C>A (p.Thr299Asn)
c.6671C>A (p.Thr2224Asn)
c.6590C>A (p.Thr2197Asn)
n.5941C>A
c.6599C>A (p.Thr2200Asn)
c.6476C>A (p.Thr2159Asn)
n.726C>A
c.4082C>A (p.Thr1361Asn)
c.6695C>A (p.Thr2232Asn)
c.4505C>A (p.Thr1502Asn)
c.4181C>A (p.Thr1394Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502491C=CA2003526306KMT2Ac.6698C= (p.Thr2233=)
c.6689C= (p.Thr2230=)
c.638C= (p.Thr213=)
c.896C= (p.Thr299=)
c.6671C= (p.Thr2224=)
c.6590C= (p.Thr2197=)
n.5941C=
c.6599C= (p.Thr2200=)
c.6476C= (p.Thr2159=)
n.726C=
c.4082C= (p.Thr1361=)
c.6695C= (p.Thr2232=)
c.4505C= (p.Thr1502=)
c.4181C= (p.Thr1394=)
11g.118502491C>GCA382802361KMT2Ac.6698C>G (p.Thr2233Ser)
c.6689C>G (p.Thr2230Ser)
c.638C>G (p.Thr213Ser)
c.896C>G (p.Thr299Ser)
c.6671C>G (p.Thr2224Ser)
c.6590C>G (p.Thr2197Ser)
n.5941C>G
c.6599C>G (p.Thr2200Ser)
c.6476C>G (p.Thr2159Ser)
n.726C>G
c.4082C>G (p.Thr1361Ser)
c.6695C>G (p.Thr2232Ser)
c.4505C>G (p.Thr1502Ser)
c.4181C>G (p.Thr1394Ser)
11g.118502491C>TCA382802360KMT2Ac.6698C>T (p.Thr2233Ile)
c.6689C>T (p.Thr2230Ile)
c.638C>T (p.Thr213Ile)
c.896C>T (p.Thr299Ile)
c.6671C>T (p.Thr2224Ile)
c.6590C>T (p.Thr2197Ile)
n.5941C>T
c.6599C>T (p.Thr2200Ile)
c.6476C>T (p.Thr2159Ile)
n.726C>T
c.4082C>T (p.Thr1361Ile)
c.6695C>T (p.Thr2232Ile)
c.4505C>T (p.Thr1502Ile)
c.4181C>T (p.Thr1394Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.118502492C>ACA477093468KMT2Ac.6699C>A (p.Thr2233=)
c.6690C>A (p.Thr2230=)
c.639C>A (p.Thr213=)
c.897C>A (p.Thr299=)
c.6672C>A (p.Thr2224=)
c.6591C>A (p.Thr2197=)
n.5942C>A
c.6600C>A (p.Thr2200=)
c.6477C>A (p.Thr2159=)
n.727C>A
c.4083C>A (p.Thr1361=)
c.6696C>A (p.Thr2232=)
c.4506C>A (p.Thr1502=)
c.4182C>A (p.Thr1394=)
 dbSNP
11g.118502492C>GCA477093469KMT2Ac.6699C>G (p.Thr2233=)
c.6690C>G (p.Thr2230=)
c.639C>G (p.Thr213=)
c.897C>G (p.Thr299=)
c.6672C>G (p.Thr2224=)
c.6591C>G (p.Thr2197=)
n.5942C>G
c.6600C>G (p.Thr2200=)
c.6477C>G (p.Thr2159=)
n.727C>G
c.4083C>G (p.Thr1361=)
c.6696C>G (p.Thr2232=)
c.4506C>G (p.Thr1502=)
c.4182C>G (p.Thr1394=)
11g.118502492C>TCA477093470KMT2Ac.6699C>T (p.Thr2233=)
c.6690C>T (p.Thr2230=)
c.639C>T (p.Thr213=)
c.897C>T (p.Thr299=)
c.6672C>T (p.Thr2224=)
c.6591C>T (p.Thr2197=)
n.5942C>T
c.6600C>T (p.Thr2200=)
c.6477C>T (p.Thr2159=)
n.727C>T
c.4083C>T (p.Thr1361=)
c.6696C>T (p.Thr2232=)
c.4506C>T (p.Thr1502=)
c.4182C>T (p.Thr1394=)
11g.118502493T>ACA382802363KMT2Ac.6700T>A (p.Ser2234Thr)
c.6691T>A (p.Ser2231Thr)
c.640T>A (p.Ser214Thr)
c.898T>A (p.Ser300Thr)
c.6673T>A (p.Ser2225Thr)
c.6592T>A (p.Ser2198Thr)
n.5943T>A
c.6601T>A (p.Ser2201Thr)
c.6478T>A (p.Ser2160Thr)
n.728T>A
c.4084T>A (p.Ser1362Thr)
c.6697T>A (p.Ser2233Thr)
c.4507T>A (p.Ser1503Thr)
c.4183T>A (p.Ser1395Thr)
 dbSNP
11g.118502493T>CCA382802365KMT2Ac.6700T>C (p.Ser2234Pro)
c.6691T>C (p.Ser2231Pro)
c.640T>C (p.Ser214Pro)
c.898T>C (p.Ser300Pro)
c.6673T>C (p.Ser2225Pro)
c.6592T>C (p.Ser2198Pro)
n.5943T>C
c.6601T>C (p.Ser2201Pro)
c.6478T>C (p.Ser2160Pro)
n.728T>C
c.4084T>C (p.Ser1362Pro)
c.6697T>C (p.Ser2233Pro)
c.4507T>C (p.Ser1503Pro)
c.4183T>C (p.Ser1395Pro)
11g.118502493T>GCA382802366KMT2Ac.6700T>G (p.Ser2234Ala)
c.6691T>G (p.Ser2231Ala)
c.640T>G (p.Ser214Ala)
c.898T>G (p.Ser300Ala)
c.6673T>G (p.Ser2225Ala)
c.6592T>G (p.Ser2198Ala)
n.5943T>G
c.6601T>G (p.Ser2201Ala)
c.6478T>G (p.Ser2160Ala)
n.728T>G
c.4084T>G (p.Ser1362Ala)
c.6697T>G (p.Ser2233Ala)
c.4507T>G (p.Ser1503Ala)
c.4183T>G (p.Ser1395Ala)
11g.118502494C>ACA382802367KMT2Ac.6701C>A (p.Ser2234Tyr)
c.6692C>A (p.Ser2231Tyr)
c.641C>A (p.Ser214Tyr)
c.899C>A (p.Ser300Tyr)
c.6674C>A (p.Ser2225Tyr)
c.6593C>A (p.Ser2198Tyr)
n.5944C>A
c.6602C>A (p.Ser2201Tyr)
c.6479C>A (p.Ser2160Tyr)
n.729C>A
c.4085C>A (p.Ser1362Tyr)
c.6698C>A (p.Ser2233Tyr)
c.4508C>A (p.Ser1503Tyr)
c.4184C>A (p.Ser1395Tyr)
11g.118502494C>GCA382802369KMT2Ac.6701C>G (p.Ser2234Cys)
c.6692C>G (p.Ser2231Cys)
c.641C>G (p.Ser214Cys)
c.899C>G (p.Ser300Cys)
c.6674C>G (p.Ser2225Cys)
c.6593C>G (p.Ser2198Cys)
n.5944C>G
c.6602C>G (p.Ser2201Cys)
c.6479C>G (p.Ser2160Cys)
n.729C>G
c.4085C>G (p.Ser1362Cys)
c.6698C>G (p.Ser2233Cys)
c.4508C>G (p.Ser1503Cys)
c.4184C>G (p.Ser1395Cys)
11g.118502494C>TCA382802371KMT2Ac.6701C>T (p.Ser2234Phe)
c.6692C>T (p.Ser2231Phe)
c.641C>T (p.Ser214Phe)
c.899C>T (p.Ser300Phe)
c.6674C>T (p.Ser2225Phe)
c.6593C>T (p.Ser2198Phe)
n.5944C>T
c.6602C>T (p.Ser2201Phe)
c.6479C>T (p.Ser2160Phe)
n.729C>T
c.4085C>T (p.Ser1362Phe)
c.6698C>T (p.Ser2233Phe)
c.4508C>T (p.Ser1503Phe)
c.4184C>T (p.Ser1395Phe)
11g.118502495T>ACA477093471KMT2Ac.6702T>A (p.Ser2234=)
c.6693T>A (p.Ser2231=)
c.642T>A (p.Ser214=)
c.900T>A (p.Ser300=)
c.6675T>A (p.Ser2225=)
c.6594T>A (p.Ser2198=)
n.5945T>A
c.6603T>A (p.Ser2201=)
c.6480T>A (p.Ser2160=)
n.730T>A
c.4086T>A (p.Ser1362=)
c.6699T>A (p.Ser2233=)
c.4509T>A (p.Ser1503=)
c.4185T>A (p.Ser1395=)
11g.118502495T>CCA6304279KMT2Ac.6702T>C (p.Ser2234=)
c.6693T>C (p.Ser2231=)
c.642T>C (p.Ser214=)
c.900T>C (p.Ser300=)
c.6675T>C (p.Ser2225=)
c.6594T>C (p.Ser2198=)
n.5945T>C
c.6603T>C (p.Ser2201=)
c.6480T>C (p.Ser2160=)
n.730T>C
c.4086T>C (p.Ser1362=)
c.6699T>C (p.Ser2233=)
c.4509T>C (p.Ser1503=)
c.4185T>C (p.Ser1395=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502495T>GCA477093473KMT2Ac.6702T>G (p.Ser2234=)
c.6693T>G (p.Ser2231=)
c.642T>G (p.Ser214=)
c.900T>G (p.Ser300=)
c.6675T>G (p.Ser2225=)
c.6594T>G (p.Ser2198=)
n.5945T>G
c.6603T>G (p.Ser2201=)
c.6480T>G (p.Ser2160=)
n.730T>G
c.4086T>G (p.Ser1362=)
c.6699T>G (p.Ser2233=)
c.4509T>G (p.Ser1503=)
c.4185T>G (p.Ser1395=)
11g.118502495T=CA2003526309KMT2Ac.6702T= (p.Ser2234=)
c.6693T= (p.Ser2231=)
c.642T= (p.Ser214=)
c.900T= (p.Ser300=)
c.6675T= (p.Ser2225=)
c.6594T= (p.Ser2198=)
n.5945T=
c.6603T= (p.Ser2201=)
c.6480T= (p.Ser2160=)
n.730T=
c.4086T= (p.Ser1362=)
c.6699T= (p.Ser2233=)
c.4509T= (p.Ser1503=)
c.4185T= (p.Ser1395=)
11g.118502496T>ACA382802374KMT2Ac.6703T>A (p.Ser2235Thr)
c.6694T>A (p.Ser2232Thr)
c.643T>A (p.Ser215Thr)
c.901T>A (p.Ser301Thr)
c.6676T>A (p.Ser2226Thr)
c.6595T>A (p.Ser2199Thr)
n.5946T>A
c.6604T>A (p.Ser2202Thr)
c.6481T>A (p.Ser2161Thr)
n.731T>A
c.4087T>A (p.Ser1363Thr)
c.6700T>A (p.Ser2234Thr)
c.4510T>A (p.Ser1504Thr)
c.4186T>A (p.Ser1396Thr)
11g.118502496T>CCA382802376KMT2Ac.6703T>C (p.Ser2235Pro)
c.6694T>C (p.Ser2232Pro)
c.643T>C (p.Ser215Pro)
c.901T>C (p.Ser301Pro)
c.6676T>C (p.Ser2226Pro)
c.6595T>C (p.Ser2199Pro)
n.5946T>C
c.6604T>C (p.Ser2202Pro)
c.6481T>C (p.Ser2161Pro)
n.731T>C
c.4087T>C (p.Ser1363Pro)
c.6700T>C (p.Ser2234Pro)
c.4510T>C (p.Ser1504Pro)
c.4186T>C (p.Ser1396Pro)
 gnomAD v4
11g.118502496T>GCA382802377KMT2Ac.6703T>G (p.Ser2235Ala)
c.6694T>G (p.Ser2232Ala)
c.643T>G (p.Ser215Ala)
c.901T>G (p.Ser301Ala)
c.6676T>G (p.Ser2226Ala)
c.6595T>G (p.Ser2199Ala)
n.5946T>G
c.6604T>G (p.Ser2202Ala)
c.6481T>G (p.Ser2161Ala)
n.731T>G
c.4087T>G (p.Ser1363Ala)
c.6700T>G (p.Ser2234Ala)
c.4510T>G (p.Ser1504Ala)
c.4186T>G (p.Ser1396Ala)
11g.118502497C>ACA6304280KMT2Ac.6704C>A (p.Ser2235Tyr)
c.6695C>A (p.Ser2232Tyr)
c.644C>A (p.Ser215Tyr)
c.902C>A (p.Ser301Tyr)
c.6677C>A (p.Ser2226Tyr)
c.6596C>A (p.Ser2199Tyr)
n.5947C>A
c.6605C>A (p.Ser2202Tyr)
c.6482C>A (p.Ser2161Tyr)
n.732C>A
c.4088C>A (p.Ser1363Tyr)
c.6701C>A (p.Ser2234Tyr)
c.4511C>A (p.Ser1504Tyr)
c.4187C>A (p.Ser1396Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502497C=CA2003526313KMT2Ac.6704C= (p.Ser2235=)
c.6695C= (p.Ser2232=)
c.644C= (p.Ser215=)
c.902C= (p.Ser301=)
c.6677C= (p.Ser2226=)
c.6596C= (p.Ser2199=)
n.5947C=
c.6605C= (p.Ser2202=)
c.6482C= (p.Ser2161=)
n.732C=
c.4088C= (p.Ser1363=)
c.6701C= (p.Ser2234=)
c.4511C= (p.Ser1504=)
c.4187C= (p.Ser1396=)
11g.118502497C>GCA382802380KMT2Ac.6704C>G (p.Ser2235Cys)
c.6695C>G (p.Ser2232Cys)
c.644C>G (p.Ser215Cys)
c.902C>G (p.Ser301Cys)
c.6677C>G (p.Ser2226Cys)
c.6596C>G (p.Ser2199Cys)
n.5947C>G
c.6605C>G (p.Ser2202Cys)
c.6482C>G (p.Ser2161Cys)
n.732C>G
c.4088C>G (p.Ser1363Cys)
c.6701C>G (p.Ser2234Cys)
c.4511C>G (p.Ser1504Cys)
c.4187C>G (p.Ser1396Cys)
11g.118502497C>TCA382802382KMT2Ac.6704C>T (p.Ser2235Phe)
c.6695C>T (p.Ser2232Phe)
c.644C>T (p.Ser215Phe)
c.902C>T (p.Ser301Phe)
c.6677C>T (p.Ser2226Phe)
c.6596C>T (p.Ser2199Phe)
n.5947C>T
c.6605C>T (p.Ser2202Phe)
c.6482C>T (p.Ser2161Phe)
n.732C>T
c.4088C>T (p.Ser1363Phe)
c.6701C>T (p.Ser2234Phe)
c.4511C>T (p.Ser1504Phe)
c.4187C>T (p.Ser1396Phe)
11g.118502498delCA477093474KMT2Ac.6705del (p.Leu2236TyrfsTer10)
c.6696del (p.Leu2233TyrfsTer10)
c.645del (p.Leu216TyrfsTer10)
c.903del (p.Leu302TyrfsTer10)
c.6678del (p.Leu2227TyrfsTer10)
c.6597del (p.Leu2200TyrfsTer10)
n.5948del
c.6606del (p.Leu2203TyrfsTer10)
c.6483del (p.Leu2162TyrfsTer10)
n.733del
c.4089del (p.Leu1364TyrfsTer10)
c.6702del (p.Leu2235TyrfsTer10)
c.4512del (p.Leu1505TyrfsTer10)
c.4188del (p.Leu1397TyrfsTer10)
 COSMIC COSMIC
11g.118502498C>ACA477093475KMT2Ac.6705C>A (p.Ser2235=)
c.6696C>A (p.Ser2232=)
c.645C>A (p.Ser215=)
c.903C>A (p.Ser301=)
c.6678C>A (p.Ser2226=)
c.6597C>A (p.Ser2199=)
n.5948C>A
c.6606C>A (p.Ser2202=)
c.6483C>A (p.Ser2161=)
n.733C>A
c.4089C>A (p.Ser1363=)
c.6702C>A (p.Ser2234=)
c.4512C>A (p.Ser1504=)
c.4188C>A (p.Ser1396=)
11g.118502498C=CA2003526320KMT2Ac.6705C= (p.Ser2235=)
c.6696C= (p.Ser2232=)
c.645C= (p.Ser215=)
c.903C= (p.Ser301=)
c.6678C= (p.Ser2226=)
c.6597C= (p.Ser2199=)
n.5948C=
c.6606C= (p.Ser2202=)
c.6483C= (p.Ser2161=)
n.733C=
c.4089C= (p.Ser1363=)
c.6702C= (p.Ser2234=)
c.4512C= (p.Ser1504=)
c.4188C= (p.Ser1396=)
11g.118502498C>GCA6304281KMT2Ac.6705C>G (p.Ser2235=)
c.6696C>G (p.Ser2232=)
c.645C>G (p.Ser215=)
c.903C>G (p.Ser301=)
c.6678C>G (p.Ser2226=)
c.6597C>G (p.Ser2199=)
n.5948C>G
c.6606C>G (p.Ser2202=)
c.6483C>G (p.Ser2161=)
n.733C>G
c.4089C>G (p.Ser1363=)
c.6702C>G (p.Ser2234=)
c.4512C>G (p.Ser1504=)
c.4188C>G (p.Ser1396=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502498C>TCA477093476KMT2Ac.6705C>T (p.Ser2235=)
c.6696C>T (p.Ser2232=)
c.645C>T (p.Ser215=)
c.903C>T (p.Ser301=)
c.6678C>T (p.Ser2226=)
c.6597C>T (p.Ser2199=)
n.5948C>T
c.6606C>T (p.Ser2202=)
c.6483C>T (p.Ser2161=)
n.733C>T
c.4089C>T (p.Ser1363=)
c.6702C>T (p.Ser2234=)
c.4512C>T (p.Ser1504=)
c.4188C>T (p.Ser1396=)
11g.118502499T>ACA382802385KMT2Ac.6706T>A (p.Leu2236Ile)
c.6697T>A (p.Leu2233Ile)
c.646T>A (p.Leu216Ile)
c.904T>A (p.Leu302Ile)
c.6679T>A (p.Leu2227Ile)
c.6598T>A (p.Leu2200Ile)
n.5949T>A
c.6607T>A (p.Leu2203Ile)
c.6484T>A (p.Leu2162Ile)
n.734T>A
c.4090T>A (p.Leu1364Ile)
c.6703T>A (p.Leu2235Ile)
c.4513T>A (p.Leu1505Ile)
c.4189T>A (p.Leu1397Ile)
11g.118502499T>CCA477093477KMT2Ac.6706T>C (p.Leu2236=)
c.6697T>C (p.Leu2233=)
c.646T>C (p.Leu216=)
c.904T>C (p.Leu302=)
c.6679T>C (p.Leu2227=)
c.6598T>C (p.Leu2200=)
n.5949T>C
c.6607T>C (p.Leu2203=)
c.6484T>C (p.Leu2162=)
n.734T>C
c.4090T>C (p.Leu1364=)
c.6703T>C (p.Leu2235=)
c.4513T>C (p.Leu1505=)
c.4189T>C (p.Leu1397=)
11g.118502499T>GCA382802383KMT2Ac.6706T>G (p.Leu2236Val)
c.6697T>G (p.Leu2233Val)
c.646T>G (p.Leu216Val)
c.904T>G (p.Leu302Val)
c.6679T>G (p.Leu2227Val)
c.6598T>G (p.Leu2200Val)
n.5949T>G
c.6607T>G (p.Leu2203Val)
c.6484T>G (p.Leu2162Val)
n.734T>G
c.4090T>G (p.Leu1364Val)
c.6703T>G (p.Leu2235Val)
c.4513T>G (p.Leu1505Val)
c.4189T>G (p.Leu1397Val)
11g.118502500T>ACA382802387KMT2Ac.6707T>A (p.Leu2236Ter)
c.6698T>A (p.Leu2233Ter)
c.647T>A (p.Leu216Ter)
c.905T>A (p.Leu302Ter)
c.6680T>A (p.Leu2227Ter)
c.6599T>A (p.Leu2200Ter)
n.5950T>A
c.6608T>A (p.Leu2203Ter)
c.6485T>A (p.Leu2162Ter)
n.735T>A
c.4091T>A (p.Leu1364Ter)
c.6704T>A (p.Leu2235Ter)
c.4514T>A (p.Leu1505Ter)
c.4190T>A (p.Leu1397Ter)
 dbSNP
11g.118502500T>CCA382802389KMT2Ac.6707T>C (p.Leu2236Ser)
c.6698T>C (p.Leu2233Ser)
c.647T>C (p.Leu216Ser)
c.905T>C (p.Leu302Ser)
c.6680T>C (p.Leu2227Ser)
c.6599T>C (p.Leu2200Ser)
n.5950T>C
c.6608T>C (p.Leu2203Ser)
c.6485T>C (p.Leu2162Ser)
n.735T>C
c.4091T>C (p.Leu1364Ser)
c.6704T>C (p.Leu2235Ser)
c.4514T>C (p.Leu1505Ser)
c.4190T>C (p.Leu1397Ser)
11g.118502500T>GCA382802390KMT2Ac.6707T>G (p.Leu2236Ter)
c.6698T>G (p.Leu2233Ter)
c.647T>G (p.Leu216Ter)
c.905T>G (p.Leu302Ter)
c.6680T>G (p.Leu2227Ter)
c.6599T>G (p.Leu2200Ter)
n.5950T>G
c.6608T>G (p.Leu2203Ter)
c.6485T>G (p.Leu2162Ter)
n.735T>G
c.4091T>G (p.Leu1364Ter)
c.6704T>G (p.Leu2235Ter)
c.4514T>G (p.Leu1505Ter)
c.4190T>G (p.Leu1397Ter)
11g.118502501A>CCA382802392KMT2Ac.6708A>C (p.Leu2236Phe)
c.6699A>C (p.Leu2233Phe)
c.648A>C (p.Leu216Phe)
c.906A>C (p.Leu302Phe)
c.6681A>C (p.Leu2227Phe)
c.6600A>C (p.Leu2200Phe)
n.5951A>C
c.6609A>C (p.Leu2203Phe)
c.6486A>C (p.Leu2162Phe)
n.736A>C
c.4092A>C (p.Leu1364Phe)
c.6705A>C (p.Leu2235Phe)
c.4515A>C (p.Leu1505Phe)
c.4191A>C (p.Leu1397Phe)
11g.118502501A>GCA477093478KMT2Ac.6708A>G (p.Leu2236=)
c.6699A>G (p.Leu2233=)
c.648A>G (p.Leu216=)
c.906A>G (p.Leu302=)
c.6681A>G (p.Leu2227=)
c.6600A>G (p.Leu2200=)
n.5951A>G
c.6609A>G (p.Leu2203=)
c.6486A>G (p.Leu2162=)
n.736A>G
c.4092A>G (p.Leu1364=)
c.6705A>G (p.Leu2235=)
c.4515A>G (p.Leu1505=)
c.4191A>G (p.Leu1397=)
11g.118502501A>TCA382802394KMT2Ac.6708A>T (p.Leu2236Phe)
c.6699A>T (p.Leu2233Phe)
c.648A>T (p.Leu216Phe)
c.906A>T (p.Leu302Phe)
c.6681A>T (p.Leu2227Phe)
c.6600A>T (p.Leu2200Phe)
n.5951A>T
c.6609A>T (p.Leu2203Phe)
c.6486A>T (p.Leu2162Phe)
n.736A>T
c.4092A>T (p.Leu1364Phe)
c.6705A>T (p.Leu2235Phe)
c.4515A>T (p.Leu1505Phe)
c.4191A>T (p.Leu1397Phe)
11g.118502502T>ACA382802399KMT2Ac.6709T>A (p.Ser2237Thr)
c.6700T>A (p.Ser2234Thr)
c.649T>A (p.Ser217Thr)
c.907T>A (p.Ser303Thr)
c.6682T>A (p.Ser2228Thr)
c.6601T>A (p.Ser2201Thr)
n.5952T>A
c.6610T>A (p.Ser2204Thr)
c.6487T>A (p.Ser2163Thr)
n.737T>A
c.4093T>A (p.Ser1365Thr)
c.6706T>A (p.Ser2236Thr)
c.4516T>A (p.Ser1506Thr)
c.4192T>A (p.Ser1398Thr)
11g.118502502T>CCA382802397KMT2Ac.6709T>C (p.Ser2237Pro)
c.6700T>C (p.Ser2234Pro)
c.649T>C (p.Ser217Pro)
c.907T>C (p.Ser303Pro)
c.6682T>C (p.Ser2228Pro)
c.6601T>C (p.Ser2201Pro)
n.5952T>C
c.6610T>C (p.Ser2204Pro)
c.6487T>C (p.Ser2163Pro)
n.737T>C
c.4093T>C (p.Ser1365Pro)
c.6706T>C (p.Ser2236Pro)
c.4516T>C (p.Ser1506Pro)
c.4192T>C (p.Ser1398Pro)
11g.118502502T>GCA382802396KMT2Ac.6709T>G (p.Ser2237Ala)
c.6700T>G (p.Ser2234Ala)
c.649T>G (p.Ser217Ala)
c.907T>G (p.Ser303Ala)
c.6682T>G (p.Ser2228Ala)
c.6601T>G (p.Ser2201Ala)
n.5952T>G
c.6610T>G (p.Ser2204Ala)
c.6487T>G (p.Ser2163Ala)
n.737T>G
c.4093T>G (p.Ser1365Ala)
c.6706T>G (p.Ser2236Ala)
c.4516T>G (p.Ser1506Ala)
c.4192T>G (p.Ser1398Ala)
11g.118502503C>ACA382802401KMT2Ac.6710C>A (p.Ser2237Ter)
c.6701C>A (p.Ser2234Ter)
c.650C>A (p.Ser217Ter)
c.908C>A (p.Ser303Ter)
c.6683C>A (p.Ser2228Ter)
c.6602C>A (p.Ser2201Ter)
n.5953C>A
c.6611C>A (p.Ser2204Ter)
c.6488C>A (p.Ser2163Ter)
n.738C>A
c.4094C>A (p.Ser1365Ter)
c.6707C>A (p.Ser2236Ter)
c.4517C>A (p.Ser1506Ter)
c.4193C>A (p.Ser1398Ter)
11g.118502503C>GCA382802402KMT2Ac.6710C>G (p.Ser2237Ter)
c.6701C>G (p.Ser2234Ter)
c.650C>G (p.Ser217Ter)
c.908C>G (p.Ser303Ter)
c.6683C>G (p.Ser2228Ter)
c.6602C>G (p.Ser2201Ter)
n.5953C>G
c.6611C>G (p.Ser2204Ter)
c.6488C>G (p.Ser2163Ter)
n.738C>G
c.4094C>G (p.Ser1365Ter)
c.6707C>G (p.Ser2236Ter)
c.4517C>G (p.Ser1506Ter)
c.4193C>G (p.Ser1398Ter)
 dbSNP
11g.118502503C>TCA382802403KMT2Ac.6710C>T (p.Ser2237Leu)
c.6701C>T (p.Ser2234Leu)
c.650C>T (p.Ser217Leu)
c.908C>T (p.Ser303Leu)
c.6683C>T (p.Ser2228Leu)
c.6602C>T (p.Ser2201Leu)
n.5953C>T
c.6611C>T (p.Ser2204Leu)
c.6488C>T (p.Ser2163Leu)
n.738C>T
c.4094C>T (p.Ser1365Leu)
c.6707C>T (p.Ser2236Leu)
c.4517C>T (p.Ser1506Leu)
c.4193C>T (p.Ser1398Leu)
11g.118502504A>CCA477093479KMT2Ac.6711A>C (p.Ser2237=)
c.6702A>C (p.Ser2234=)
c.651A>C (p.Ser217=)
c.909A>C (p.Ser303=)
c.6684A>C (p.Ser2228=)
c.6603A>C (p.Ser2201=)
n.5954A>C
c.6612A>C (p.Ser2204=)
c.6489A>C (p.Ser2163=)
n.739A>C
c.4095A>C (p.Ser1365=)
c.6708A>C (p.Ser2236=)
c.4518A>C (p.Ser1506=)
c.4194A>C (p.Ser1398=)
11g.118502504A>GCA477093481KMT2Ac.6711A>G (p.Ser2237=)
c.6702A>G (p.Ser2234=)
c.651A>G (p.Ser217=)
c.909A>G (p.Ser303=)
c.6684A>G (p.Ser2228=)
c.6603A>G (p.Ser2201=)
n.5954A>G
c.6612A>G (p.Ser2204=)
c.6489A>G (p.Ser2163=)
n.739A>G
c.4095A>G (p.Ser1365=)
c.6708A>G (p.Ser2236=)
c.4518A>G (p.Ser1506=)
c.4194A>G (p.Ser1398=)
11g.118502504A>TCA477093480KMT2Ac.6711A>T (p.Ser2237=)
c.6702A>T (p.Ser2234=)
c.651A>T (p.Ser217=)
c.909A>T (p.Ser303=)
c.6684A>T (p.Ser2228=)
c.6603A>T (p.Ser2201=)
n.5954A>T
c.6612A>T (p.Ser2204=)
c.6489A>T (p.Ser2163=)
n.739A>T
c.4095A>T (p.Ser1365=)
c.6708A>T (p.Ser2236=)
c.4518A>T (p.Ser1506=)
c.4194A>T (p.Ser1398=)
11g.118502504_118502505insAGAGAGAAAAAGTAATAAATGCA2725086110KMT2Ac.6711_6712insAGAGAGAAAAAGTAATAAATG
c.6702_6703insAGAGAGAAAAAGTAATAAATG
c.651_652insAGAGAGAAAAAGTAATAAATG
c.909_910insAGAGAGAAAAAGTAATAAATG
c.6684_6685insAGAGAGAAAAAGTAATAAATG
c.6603_6604insAGAGAGAAAAAGTAATAAATG
n.5954_5955insAGAGAGAAAAAGTAATAAATG
c.6612_6613insAGAGAGAAAAAGTAATAAATG
c.6489_6490insAGAGAGAAAAAGTAATAAATG
n.739_740insAGAGAGAAAAAGTAATAAATG
c.4095_4096insAGAGAGAAAAAGTAATAAATG
c.6708_6709insAGAGAGAAAAAGTAATAAATG
c.4518_4519insAGAGAGAAAAAGTAATAAATG
c.4194_4195insAGAGAGAAAAAGTAATAAATG
 dbSNP
11g.118502505C>ACA382802406KMT2Ac.6712C>A (p.Pro2238Thr)
c.6703C>A (p.Pro2235Thr)
c.652C>A (p.Pro218Thr)
c.910C>A (p.Pro304Thr)
c.6685C>A (p.Pro2229Thr)
c.6604C>A (p.Pro2202Thr)
n.5955C>A
c.6613C>A (p.Pro2205Thr)
c.6490C>A (p.Pro2164Thr)
n.740C>A
c.4096C>A (p.Pro1366Thr)
c.6709C>A (p.Pro2237Thr)
c.4519C>A (p.Pro1507Thr)
c.4195C>A (p.Pro1399Thr)
11g.118502505C=CA2003526330KMT2Ac.6712C= (p.Pro2238=)
c.6703C= (p.Pro2235=)
c.652C= (p.Pro218=)
c.910C= (p.Pro304=)
c.6685C= (p.Pro2229=)
c.6604C= (p.Pro2202=)
n.5955C=
c.6613C= (p.Pro2205=)
c.6490C= (p.Pro2164=)
n.740C=
c.4096C= (p.Pro1366=)
c.6709C= (p.Pro2237=)
c.4519C= (p.Pro1507=)
c.4195C= (p.Pro1399=)
11g.118502505C>GCA382802407KMT2Ac.6712C>G (p.Pro2238Ala)
c.6703C>G (p.Pro2235Ala)
c.652C>G (p.Pro218Ala)
c.910C>G (p.Pro304Ala)
c.6685C>G (p.Pro2229Ala)
c.6604C>G (p.Pro2202Ala)
n.5955C>G
c.6613C>G (p.Pro2205Ala)
c.6490C>G (p.Pro2164Ala)
n.740C>G
c.4096C>G (p.Pro1366Ala)
c.6709C>G (p.Pro2237Ala)
c.4519C>G (p.Pro1507Ala)
c.4195C>G (p.Pro1399Ala)
11g.118502505C>TCA229526158KMT2Ac.6712C>T (p.Pro2238Ser)
c.6703C>T (p.Pro2235Ser)
c.652C>T (p.Pro218Ser)
c.910C>T (p.Pro304Ser)
c.6685C>T (p.Pro2229Ser)
c.6604C>T (p.Pro2202Ser)
n.5955C>T
c.6613C>T (p.Pro2205Ser)
c.6490C>T (p.Pro2164Ser)
n.740C>T
c.4096C>T (p.Pro1366Ser)
c.6709C>T (p.Pro2237Ser)
c.4519C>T (p.Pro1507Ser)
c.4195C>T (p.Pro1399Ser)
 dbSNP
11g.118502506C>ACA382802414KMT2Ac.6713C>A (p.Pro2238His)
c.6704C>A (p.Pro2235His)
c.653C>A (p.Pro218His)
c.911C>A (p.Pro304His)
c.6686C>A (p.Pro2229His)
c.6605C>A (p.Pro2202His)
n.5956C>A
c.6614C>A (p.Pro2205His)
c.6491C>A (p.Pro2164His)
n.741C>A
c.4097C>A (p.Pro1366His)
c.6710C>A (p.Pro2237His)
c.4520C>A (p.Pro1507His)
c.4196C>A (p.Pro1399His)
11g.118502506C=CA2003526334KMT2Ac.6713C= (p.Pro2238=)
c.6704C= (p.Pro2235=)
c.653C= (p.Pro218=)
c.911C= (p.Pro304=)
c.6686C= (p.Pro2229=)
c.6605C= (p.Pro2202=)
n.5956C=
c.6614C= (p.Pro2205=)
c.6491C= (p.Pro2164=)
n.741C=
c.4097C= (p.Pro1366=)
c.6710C= (p.Pro2237=)
c.4520C= (p.Pro1507=)
c.4196C= (p.Pro1399=)
11g.118502506C>GCA382802411KMT2Ac.6713C>G (p.Pro2238Arg)
c.6704C>G (p.Pro2235Arg)
c.653C>G (p.Pro218Arg)
c.911C>G (p.Pro304Arg)
c.6686C>G (p.Pro2229Arg)
c.6605C>G (p.Pro2202Arg)
n.5956C>G
c.6614C>G (p.Pro2205Arg)
c.6491C>G (p.Pro2164Arg)
n.741C>G
c.4097C>G (p.Pro1366Arg)
c.6710C>G (p.Pro2237Arg)
c.4520C>G (p.Pro1507Arg)
c.4196C>G (p.Pro1399Arg)
11g.118502506C>TCA382802412KMT2Ac.6713C>T (p.Pro2238Leu)
c.6704C>T (p.Pro2235Leu)
c.653C>T (p.Pro218Leu)
c.911C>T (p.Pro304Leu)
c.6686C>T (p.Pro2229Leu)
c.6605C>T (p.Pro2202Leu)
n.5956C>T
c.6614C>T (p.Pro2205Leu)
c.6491C>T (p.Pro2164Leu)
n.741C>T
c.4097C>T (p.Pro1366Leu)
c.6710C>T (p.Pro2237Leu)
c.4520C>T (p.Pro1507Leu)
c.4196C>T (p.Pro1399Leu)
 ClinVar dbSNP gnomAD v4
11g.118502507C>ACA477093482KMT2Ac.6714C>A (p.Pro2238=)
c.6705C>A (p.Pro2235=)
c.654C>A (p.Pro218=)
c.912C>A (p.Pro304=)
c.6687C>A (p.Pro2229=)
c.6606C>A (p.Pro2202=)
n.5957C>A
c.6615C>A (p.Pro2205=)
c.6492C>A (p.Pro2164=)
n.742C>A
c.4098C>A (p.Pro1366=)
c.6711C>A (p.Pro2237=)
c.4521C>A (p.Pro1507=)
c.4197C>A (p.Pro1399=)
11g.118502507C>GCA477093484KMT2Ac.6714C>G (p.Pro2238=)
c.6705C>G (p.Pro2235=)
c.654C>G (p.Pro218=)
c.912C>G (p.Pro304=)
c.6687C>G (p.Pro2229=)
c.6606C>G (p.Pro2202=)
n.5957C>G
c.6615C>G (p.Pro2205=)
c.6492C>G (p.Pro2164=)
n.742C>G
c.4098C>G (p.Pro1366=)
c.6711C>G (p.Pro2237=)
c.4521C>G (p.Pro1507=)
c.4197C>G (p.Pro1399=)
11g.118502507C>TCA477093485KMT2Ac.6714C>T (p.Pro2238=)
c.6705C>T (p.Pro2235=)
c.654C>T (p.Pro218=)
c.912C>T (p.Pro304=)
c.6687C>T (p.Pro2229=)
c.6606C>T (p.Pro2202=)
n.5957C>T
c.6615C>T (p.Pro2205=)
c.6492C>T (p.Pro2164=)
n.742C>T
c.4098C>T (p.Pro1366=)
c.6711C>T (p.Pro2237=)
c.4521C>T (p.Pro1507=)
c.4197C>T (p.Pro1399=)
11g.118502508C>ACA382802416KMT2Ac.6715C>A (p.Gln2239Lys)
c.6706C>A (p.Gln2236Lys)
c.655C>A (p.Gln219Lys)
c.913C>A (p.Gln305Lys)
c.6688C>A (p.Gln2230Lys)
c.6607C>A (p.Gln2203Lys)
n.5958C>A
c.6616C>A (p.Gln2206Lys)
c.6493C>A (p.Gln2165Lys)
n.743C>A
c.4099C>A (p.Gln1367Lys)
c.6712C>A (p.Gln2238Lys)
c.4522C>A (p.Gln1508Lys)
c.4198C>A (p.Gln1400Lys)
11g.118502508C>GCA382802418KMT2Ac.6715C>G (p.Gln2239Glu)
c.6706C>G (p.Gln2236Glu)
c.655C>G (p.Gln219Glu)
c.913C>G (p.Gln305Glu)
c.6688C>G (p.Gln2230Glu)
c.6607C>G (p.Gln2203Glu)
n.5958C>G
c.6616C>G (p.Gln2206Glu)
c.6493C>G (p.Gln2165Glu)
n.743C>G
c.4099C>G (p.Gln1367Glu)
c.6712C>G (p.Gln2238Glu)
c.4522C>G (p.Gln1508Glu)
c.4198C>G (p.Gln1400Glu)
11g.118502508C>TCA382802419KMT2Ac.6715C>T (p.Gln2239Ter)
c.6706C>T (p.Gln2236Ter)
c.655C>T (p.Gln219Ter)
c.913C>T (p.Gln305Ter)
c.6688C>T (p.Gln2230Ter)
c.6607C>T (p.Gln2203Ter)
n.5958C>T
c.6616C>T (p.Gln2206Ter)
c.6493C>T (p.Gln2165Ter)
n.743C>T
c.4099C>T (p.Gln1367Ter)
c.6712C>T (p.Gln2238Ter)
c.4522C>T (p.Gln1508Ter)
c.4198C>T (p.Gln1400Ter)
 ClinVar
11g.118502509A>CCA382802421KMT2Ac.6716A>C (p.Gln2239Pro)
c.6707A>C (p.Gln2236Pro)
c.656A>C (p.Gln219Pro)
c.914A>C (p.Gln305Pro)
c.6689A>C (p.Gln2230Pro)
c.6608A>C (p.Gln2203Pro)
n.5959A>C
c.6617A>C (p.Gln2206Pro)
c.6494A>C (p.Gln2165Pro)
n.744A>C
c.4100A>C (p.Gln1367Pro)
c.6713A>C (p.Gln2238Pro)
c.4523A>C (p.Gln1508Pro)
c.4199A>C (p.Gln1400Pro)
11g.118502509A>GCA382802423KMT2Ac.6716A>G (p.Gln2239Arg)
c.6707A>G (p.Gln2236Arg)
c.656A>G (p.Gln219Arg)
c.914A>G (p.Gln305Arg)
c.6689A>G (p.Gln2230Arg)
c.6608A>G (p.Gln2203Arg)
n.5959A>G
c.6617A>G (p.Gln2206Arg)
c.6494A>G (p.Gln2165Arg)
n.744A>G
c.4100A>G (p.Gln1367Arg)
c.6713A>G (p.Gln2238Arg)
c.4523A>G (p.Gln1508Arg)
c.4199A>G (p.Gln1400Arg)
11g.118502509A>TCA382802425KMT2Ac.6716A>T (p.Gln2239Leu)
c.6707A>T (p.Gln2236Leu)
c.656A>T (p.Gln219Leu)
c.914A>T (p.Gln305Leu)
c.6689A>T (p.Gln2230Leu)
c.6608A>T (p.Gln2203Leu)
n.5959A>T
c.6617A>T (p.Gln2206Leu)
c.6494A>T (p.Gln2165Leu)
n.744A>T
c.4100A>T (p.Gln1367Leu)
c.6713A>T (p.Gln2238Leu)
c.4523A>T (p.Gln1508Leu)
c.4199A>T (p.Gln1400Leu)
11g.118502510G>ACA477093486KMT2Ac.6717G>A (p.Gln2239=)
c.6708G>A (p.Gln2236=)
c.657G>A (p.Gln219=)
c.915G>A (p.Gln305=)
c.6690G>A (p.Gln2230=)
c.6609G>A (p.Gln2203=)
n.5960G>A
c.6618G>A (p.Gln2206=)
c.6495G>A (p.Gln2165=)
n.745G>A
c.4101G>A (p.Gln1367=)
c.6714G>A (p.Gln2238=)
c.4524G>A (p.Gln1508=)
c.4200G>A (p.Gln1400=)
 gnomAD v4
11g.118502510G>CCA382802427KMT2Ac.6717G>C (p.Gln2239His)
c.6708G>C (p.Gln2236His)
c.657G>C (p.Gln219His)
c.915G>C (p.Gln305His)
c.6690G>C (p.Gln2230His)
c.6609G>C (p.Gln2203His)
n.5960G>C
c.6618G>C (p.Gln2206His)
c.6495G>C (p.Gln2165His)
n.745G>C
c.4101G>C (p.Gln1367His)
c.6714G>C (p.Gln2238His)
c.4524G>C (p.Gln1508His)
c.4200G>C (p.Gln1400His)
 dbSNP
11g.118502510G>TCA382802426KMT2Ac.6717G>T (p.Gln2239His)
c.6708G>T (p.Gln2236His)
c.657G>T (p.Gln219His)
c.915G>T (p.Gln305His)
c.6690G>T (p.Gln2230His)
c.6609G>T (p.Gln2203His)
n.5960G>T
c.6618G>T (p.Gln2206His)
c.6495G>T (p.Gln2165His)
n.745G>T
c.4101G>T (p.Gln1367His)
c.6714G>T (p.Gln2238His)
c.4524G>T (p.Gln1508His)
c.4200G>T (p.Gln1400His)
11g.118502511C>ACA6304283KMT2Ac.6718C>A (p.Arg2240=)
c.6709C>A (p.Arg2237=)
c.658C>A (p.Arg220=)
c.916C>A (p.Arg306=)
c.6691C>A (p.Arg2231=)
c.6610C>A (p.Arg2204=)
n.5961C>A
c.6619C>A (p.Arg2207=)
c.6496C>A (p.Arg2166=)
n.746C>A
c.4102C>A (p.Arg1368=)
c.6715C>A (p.Arg2239=)
c.4525C>A (p.Arg1509=)
c.4201C>A (p.Arg1401=)
 ClinVar dbSNP ExAC gnomAD v4
11g.118502511C=CA2003526340KMT2Ac.6718C= (p.Arg2240=)
c.6709C= (p.Arg2237=)
c.658C= (p.Arg220=)
c.916C= (p.Arg306=)
c.6691C= (p.Arg2231=)
c.6610C= (p.Arg2204=)
n.5961C=
c.6619C= (p.Arg2207=)
c.6496C= (p.Arg2166=)
n.746C=
c.4102C= (p.Arg1368=)
c.6715C= (p.Arg2239=)
c.4525C= (p.Arg1509=)
c.4201C= (p.Arg1401=)
11g.118502511C>GCA382802430KMT2Ac.6718C>G (p.Arg2240Gly)
c.6709C>G (p.Arg2237Gly)
c.658C>G (p.Arg220Gly)
c.916C>G (p.Arg306Gly)
c.6691C>G (p.Arg2231Gly)
c.6610C>G (p.Arg2204Gly)
n.5961C>G
c.6619C>G (p.Arg2207Gly)
c.6496C>G (p.Arg2166Gly)
n.746C>G
c.4102C>G (p.Arg1368Gly)
c.6715C>G (p.Arg2239Gly)
c.4525C>G (p.Arg1509Gly)
c.4201C>G (p.Arg1401Gly)
11g.118502511C>TCA6304282KMT2Ac.6718C>T (p.Arg2240Trp)
c.6709C>T (p.Arg2237Trp)
c.658C>T (p.Arg220Trp)
c.916C>T (p.Arg306Trp)
c.6691C>T (p.Arg2231Trp)
c.6610C>T (p.Arg2204Trp)
n.5961C>T
c.6619C>T (p.Arg2207Trp)
c.6496C>T (p.Arg2166Trp)
n.746C>T
c.4102C>T (p.Arg1368Trp)
c.6715C>T (p.Arg2239Trp)
c.4525C>T (p.Arg1509Trp)
c.4201C>T (p.Arg1401Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118502512G>ACA6304284KMT2Ac.6719G>A (p.Arg2240Gln)
c.6710G>A (p.Arg2237Gln)
c.659G>A (p.Arg220Gln)
c.917G>A (p.Arg306Gln)
c.6692G>A (p.Arg2231Gln)
c.6611G>A (p.Arg2204Gln)
n.5962G>A
c.6620G>A (p.Arg2207Gln)
c.6497G>A (p.Arg2166Gln)
n.747G>A
c.4103G>A (p.Arg1368Gln)
c.6716G>A (p.Arg2239Gln)
c.4526G>A (p.Arg1509Gln)
c.4202G>A (p.Arg1401Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.118502512G>CCA382802434KMT2Ac.6719G>C (p.Arg2240Pro)
c.6710G>C (p.Arg2237Pro)
c.659G>C (p.Arg220Pro)
c.917G>C (p.Arg306Pro)
c.6692G>C (p.Arg2231Pro)
c.6611G>C (p.Arg2204Pro)
n.5962G>C
c.6620G>C (p.Arg2207Pro)
c.6497G>C (p.Arg2166Pro)
n.747G>C
c.4103G>C (p.Arg1368Pro)
c.6716G>C (p.Arg2239Pro)
c.4526G>C (p.Arg1509Pro)
c.4202G>C (p.Arg1401Pro)
 dbSNP gnomAD v4
11g.118502512G=CA2003526345KMT2Ac.6719G= (p.Arg2240=)
c.6710G= (p.Arg2237=)
c.659G= (p.Arg220=)
c.917G= (p.Arg306=)
c.6692G= (p.Arg2231=)
c.6611G= (p.Arg2204=)
n.5962G=
c.6620G= (p.Arg2207=)
c.6497G= (p.Arg2166=)
n.747G=
c.4103G= (p.Arg1368=)
c.6716G= (p.Arg2239=)
c.4526G= (p.Arg1509=)
c.4202G= (p.Arg1401=)
11g.118502512G>TCA382802436KMT2Ac.6719G>T (p.Arg2240Leu)
c.6710G>T (p.Arg2237Leu)
c.659G>T (p.Arg220Leu)
c.917G>T (p.Arg306Leu)
c.6692G>T (p.Arg2231Leu)
c.6611G>T (p.Arg2204Leu)
n.5962G>T
c.6620G>T (p.Arg2207Leu)
c.6497G>T (p.Arg2166Leu)
n.747G>T
c.4103G>T (p.Arg1368Leu)
c.6716G>T (p.Arg2239Leu)
c.4526G>T (p.Arg1509Leu)
c.4202G>T (p.Arg1401Leu)
11g.118502513G>ACA477093487KMT2Ac.6720G>A (p.Arg2240=)
c.6711G>A (p.Arg2237=)
c.660G>A (p.Arg220=)
c.918G>A (p.Arg306=)
c.6693G>A (p.Arg2231=)
c.6612G>A (p.Arg2204=)
n.5963G>A
c.6621G>A (p.Arg2207=)
c.6498G>A (p.Arg2166=)
n.748G>A
c.4104G>A (p.Arg1368=)
c.6717G>A (p.Arg2239=)
c.4527G>A (p.Arg1509=)
c.4203G>A (p.Arg1401=)
 dbSNP
11g.118502513G>CCA477093488KMT2Ac.6720G>C (p.Arg2240=)
c.6711G>C (p.Arg2237=)
c.660G>C (p.Arg220=)
c.918G>C (p.Arg306=)
c.6693G>C (p.Arg2231=)
c.6612G>C (p.Arg2204=)
n.5963G>C
c.6621G>C (p.Arg2207=)
c.6498G>C (p.Arg2166=)
n.748G>C
c.4104G>C (p.Arg1368=)
c.6717G>C (p.Arg2239=)
c.4527G>C (p.Arg1509=)
c.4203G>C (p.Arg1401=)
 dbSNP
11g.118502513G>TCA477093489KMT2Ac.6720G>T (p.Arg2240=)
c.6711G>T (p.Arg2237=)
c.660G>T (p.Arg220=)
c.918G>T (p.Arg306=)
c.6693G>T (p.Arg2231=)
c.6612G>T (p.Arg2204=)
n.5963G>T
c.6621G>T (p.Arg2207=)
c.6498G>T (p.Arg2166=)
n.748G>T
c.4104G>T (p.Arg1368=)
c.6717G>T (p.Arg2239=)
c.4527G>T (p.Arg1509=)
c.4203G>T (p.Arg1401=)
11g.118502514T>ACA382802437KMT2Ac.6721T>A (p.Ser2241Thr)
c.6712T>A (p.Ser2238Thr)
c.661T>A (p.Ser221Thr)
c.919T>A (p.Ser307Thr)
c.6694T>A (p.Ser2232Thr)
c.6613T>A (p.Ser2205Thr)
n.5964T>A
c.6622T>A (p.Ser2208Thr)
c.6499T>A (p.Ser2167Thr)
n.749T>A
c.4105T>A (p.Ser1369Thr)
c.6718T>A (p.Ser2240Thr)
c.4528T>A (p.Ser1510Thr)
c.4204T>A (p.Ser1402Thr)
 dbSNP
11g.118502514T>CCA382802440KMT2Ac.6721T>C (p.Ser2241Pro)
c.6712T>C (p.Ser2238Pro)
c.661T>C (p.Ser221Pro)
c.919T>C (p.Ser307Pro)
c.6694T>C (p.Ser2232Pro)
c.6613T>C (p.Ser2205Pro)
n.5964T>C
c.6622T>C (p.Ser2208Pro)
c.6499T>C (p.Ser2167Pro)
n.749T>C
c.4105T>C (p.Ser1369Pro)
c.6718T>C (p.Ser2240Pro)
c.4528T>C (p.Ser1510Pro)
c.4204T>C (p.Ser1402Pro)
11g.118502514T>GCA382802439KMT2Ac.6721T>G (p.Ser2241Ala)
c.6712T>G (p.Ser2238Ala)
c.661T>G (p.Ser221Ala)
c.919T>G (p.Ser307Ala)
c.6694T>G (p.Ser2232Ala)
c.6613T>G (p.Ser2205Ala)
n.5964T>G
c.6622T>G (p.Ser2208Ala)
c.6499T>G (p.Ser2167Ala)
n.749T>G
c.4105T>G (p.Ser1369Ala)
c.6718T>G (p.Ser2240Ala)
c.4528T>G (p.Ser1510Ala)
c.4204T>G (p.Ser1402Ala)
11g.118502515C>ACA382802441KMT2Ac.6722C>A (p.Ser2241Tyr)
c.6713C>A (p.Ser2238Tyr)
c.662C>A (p.Ser221Tyr)
c.920C>A (p.Ser307Tyr)
c.6695C>A (p.Ser2232Tyr)
c.6614C>A (p.Ser2205Tyr)
n.5965C>A
c.6623C>A (p.Ser2208Tyr)
c.6500C>A (p.Ser2167Tyr)
n.750C>A
c.4106C>A (p.Ser1369Tyr)
c.6719C>A (p.Ser2240Tyr)
c.4529C>A (p.Ser1510Tyr)
c.4205C>A (p.Ser1402Tyr)
11g.118502515C=CA2003526347KMT2Ac.6722C= (p.Ser2241=)
c.6713C= (p.Ser2238=)
c.662C= (p.Ser221=)
c.920C= (p.Ser307=)
c.6695C= (p.Ser2232=)
c.6614C= (p.Ser2205=)
n.5965C=
c.6623C= (p.Ser2208=)
c.6500C= (p.Ser2167=)
n.750C=
c.4106C= (p.Ser1369=)
c.6719C= (p.Ser2240=)
c.4529C= (p.Ser1510=)
c.4205C= (p.Ser1402=)
11g.118502515C>GCA382802443KMT2Ac.6722C>G (p.Ser2241Cys)
c.6713C>G (p.Ser2238Cys)
c.662C>G (p.Ser221Cys)
c.920C>G (p.Ser307Cys)
c.6695C>G (p.Ser2232Cys)
c.6614C>G (p.Ser2205Cys)
n.5965C>G
c.6623C>G (p.Ser2208Cys)
c.6500C>G (p.Ser2167Cys)
n.750C>G
c.4106C>G (p.Ser1369Cys)
c.6719C>G (p.Ser2240Cys)
c.4529C>G (p.Ser1510Cys)
c.4205C>G (p.Ser1402Cys)
11g.118502515C>TCA382802444KMT2Ac.6722C>T (p.Ser2241Phe)
c.6713C>T (p.Ser2238Phe)
c.662C>T (p.Ser221Phe)
c.920C>T (p.Ser307Phe)
c.6695C>T (p.Ser2232Phe)
c.6614C>T (p.Ser2205Phe)
n.5965C>T
c.6623C>T (p.Ser2208Phe)
c.6500C>T (p.Ser2167Phe)
n.750C>T
c.4106C>T (p.Ser1369Phe)
c.6719C>T (p.Ser2240Phe)
c.4529C>T (p.Ser1510Phe)
c.4205C>T (p.Ser1402Phe)
11g.118502515_118502516insTCA2003526361KMT2Ac.6722_6723insT (p.Lys2242GlnfsTer16)
c.6713_6714insT (p.Lys2239GlnfsTer16)
c.662_663insT (p.Lys222GlnfsTer16)
c.920_921insT (p.Lys308GlnfsTer16)
c.6695_6696insT (p.Lys2233GlnfsTer16)
c.6614_6615insT (p.Lys2206GlnfsTer16)
n.5965_5966insT
c.6623_6624insT (p.Lys2209GlnfsTer16)
c.6500_6501insT (p.Lys2168GlnfsTer16)
n.750_751insT
c.4106_4107insT (p.Lys1370GlnfsTer16)
c.6719_6720insT (p.Lys2241GlnfsTer16)
c.4529_4530insT (p.Lys1511GlnfsTer16)
c.4205_4206insT (p.Lys1403GlnfsTer16)
 dbSNP
11g.118502516C>ACA477093490KMT2Ac.6723C>A (p.Ser2241=)
c.6714C>A (p.Ser2238=)
c.663C>A (p.Ser221=)
c.921C>A (p.Ser307=)
c.6696C>A (p.Ser2232=)
c.6615C>A (p.Ser2205=)
n.5966C>A
c.6624C>A (p.Ser2208=)
c.6501C>A (p.Ser2167=)
n.751C>A
c.4107C>A (p.Ser1369=)
c.6720C>A (p.Ser2240=)
c.4530C>A (p.Ser1510=)
c.4206C>A (p.Ser1402=)
11g.118502516C>GCA477093491KMT2Ac.6723C>G (p.Ser2241=)
c.6714C>G (p.Ser2238=)
c.663C>G (p.Ser221=)
c.921C>G (p.Ser307=)
c.6696C>G (p.Ser2232=)
c.6615C>G (p.Ser2205=)
n.5966C>G
c.6624C>G (p.Ser2208=)
c.6501C>G (p.Ser2167=)
n.751C>G
c.4107C>G (p.Ser1369=)
c.6720C>G (p.Ser2240=)
c.4530C>G (p.Ser1510=)
c.4206C>G (p.Ser1402=)
11g.118502516C>TCA477093492KMT2Ac.6723C>T (p.Ser2241=)
c.6714C>T (p.Ser2238=)
c.663C>T (p.Ser221=)
c.921C>T (p.Ser307=)
c.6696C>T (p.Ser2232=)
c.6615C>T (p.Ser2205=)
n.5966C>T
c.6624C>T (p.Ser2208=)
c.6501C>T (p.Ser2167=)
n.751C>T
c.4107C>T (p.Ser1369=)
c.6720C>T (p.Ser2240=)
c.4530C>T (p.Ser1510=)
c.4206C>T (p.Ser1402=)
11g.118502517A>CCA382802447KMT2Ac.6724A>C (p.Lys2242Gln)
c.6715A>C (p.Lys2239Gln)
c.664A>C (p.Lys222Gln)
c.922A>C (p.Lys308Gln)
c.6697A>C (p.Lys2233Gln)
c.6616A>C (p.Lys2206Gln)
n.5967A>C
c.6625A>C (p.Lys2209Gln)
c.6502A>C (p.Lys2168Gln)
n.752A>C
c.4108A>C (p.Lys1370Gln)
c.6721A>C (p.Lys2241Gln)
c.4531A>C (p.Lys1511Gln)
c.4207A>C (p.Lys1403Gln)
11g.118502517A>GCA382802449KMT2Ac.6724A>G (p.Lys2242Glu)
c.6715A>G (p.Lys2239Glu)
c.664A>G (p.Lys222Glu)
c.922A>G (p.Lys308Glu)
c.6697A>G (p.Lys2233Glu)
c.6616A>G (p.Lys2206Glu)
n.5967A>G
c.6625A>G (p.Lys2209Glu)
c.6502A>G (p.Lys2168Glu)
n.752A>G
c.4108A>G (p.Lys1370Glu)
c.6721A>G (p.Lys2241Glu)
c.4531A>G (p.Lys1511Glu)
c.4207A>G (p.Lys1403Glu)
11g.118502517A>TCA382802450KMT2Ac.6724A>T (p.Lys2242Ter)
c.6715A>T (p.Lys2239Ter)
c.664A>T (p.Lys222Ter)
c.922A>T (p.Lys308Ter)
c.6697A>T (p.Lys2233Ter)
c.6616A>T (p.Lys2206Ter)
n.5967A>T
c.6625A>T (p.Lys2209Ter)
c.6502A>T (p.Lys2168Ter)
n.752A>T
c.4108A>T (p.Lys1370Ter)
c.6721A>T (p.Lys2241Ter)
c.4531A>T (p.Lys1511Ter)
c.4207A>T (p.Lys1403Ter)
11g.118502518A>CCA382802452KMT2Ac.6725A>C (p.Lys2242Thr)
c.6716A>C (p.Lys2239Thr)
c.665A>C (p.Lys222Thr)
c.923A>C (p.Lys308Thr)
c.6698A>C (p.Lys2233Thr)
c.6617A>C (p.Lys2206Thr)
n.5968A>C
c.6626A>C (p.Lys2209Thr)
c.6503A>C (p.Lys2168Thr)
n.753A>C
c.4109A>C (p.Lys1370Thr)
c.6722A>C (p.Lys2241Thr)
c.4532A>C (p.Lys1511Thr)
c.4208A>C (p.Lys1403Thr)
11g.118502518A>GCA382802454KMT2Ac.6725A>G (p.Lys2242Arg)
c.6716A>G (p.Lys2239Arg)
c.665A>G (p.Lys222Arg)
c.923A>G (p.Lys308Arg)
c.6698A>G (p.Lys2233Arg)
c.6617A>G (p.Lys2206Arg)
n.5968A>G
c.6626A>G (p.Lys2209Arg)
c.6503A>G (p.Lys2168Arg)
n.753A>G
c.4109A>G (p.Lys1370Arg)
c.6722A>G (p.Lys2241Arg)
c.4532A>G (p.Lys1511Arg)
c.4208A>G (p.Lys1403Arg)
11g.118502518A>TCA382802456KMT2Ac.6725A>T (p.Lys2242Ile)
c.6716A>T (p.Lys2239Ile)
c.665A>T (p.Lys222Ile)
c.923A>T (p.Lys308Ile)
c.6698A>T (p.Lys2233Ile)
c.6617A>T (p.Lys2206Ile)
n.5968A>T
c.6626A>T (p.Lys2209Ile)
c.6503A>T (p.Lys2168Ile)
n.753A>T
c.4109A>T (p.Lys1370Ile)
c.6722A>T (p.Lys2241Ile)
c.4532A>T (p.Lys1511Ile)
c.4208A>T (p.Lys1403Ile)
11g.118502519A>CCA382802457KMT2Ac.6726A>C (p.Lys2242Asn)
c.6717A>C (p.Lys2239Asn)
c.666A>C (p.Lys222Asn)
c.924A>C (p.Lys308Asn)
c.6699A>C (p.Lys2233Asn)
c.6618A>C (p.Lys2206Asn)
n.5969A>C
c.6627A>C (p.Lys2209Asn)
c.6504A>C (p.Lys2168Asn)
n.754A>C
c.4110A>C (p.Lys1370Asn)
c.6723A>C (p.Lys2241Asn)
c.4533A>C (p.Lys1511Asn)
c.4209A>C (p.Lys1403Asn)
11g.118502519A>GCA477093493KMT2Ac.6726A>G (p.Lys2242=)
c.6717A>G (p.Lys2239=)
c.666A>G (p.Lys222=)
c.924A>G (p.Lys308=)
c.6699A>G (p.Lys2233=)
c.6618A>G (p.Lys2206=)
n.5969A>G
c.6627A>G (p.Lys2209=)
c.6504A>G (p.Lys2168=)
n.754A>G
c.4110A>G (p.Lys1370=)
c.6723A>G (p.Lys2241=)
c.4533A>G (p.Lys1511=)
c.4209A>G (p.Lys1403=)
11g.118502519A>TCA382802458KMT2Ac.6726A>T (p.Lys2242Asn)
c.6717A>T (p.Lys2239Asn)
c.666A>T (p.Lys222Asn)
c.924A>T (p.Lys308Asn)
c.6699A>T (p.Lys2233Asn)
c.6618A>T (p.Lys2206Asn)
n.5969A>T
c.6627A>T (p.Lys2209Asn)
c.6504A>T (p.Lys2168Asn)
n.754A>T
c.4110A>T (p.Lys1370Asn)
c.6723A>T (p.Lys2241Asn)
c.4533A>T (p.Lys1511Asn)
c.4209A>T (p.Lys1403Asn)
11g.118502520C>ACA382802461KMT2Ac.6727C>A (p.Leu2243Ile)
c.6718C>A (p.Leu2240Ile)
c.667C>A (p.Leu223Ile)
c.925C>A (p.Leu309Ile)
c.6700C>A (p.Leu2234Ile)
c.6619C>A (p.Leu2207Ile)
n.5970C>A
c.6628C>A (p.Leu2210Ile)
c.6505C>A (p.Leu2169Ile)
n.755C>A
c.4111C>A (p.Leu1371Ile)
c.6724C>A (p.Leu2242Ile)
c.4534C>A (p.Leu1512Ile)
c.4210C>A (p.Leu1404Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.118502520C=CA2003526364KMT2Ac.6727C= (p.Leu2243=)
c.6718C= (p.Leu2240=)
c.667C= (p.Leu223=)
c.925C= (p.Leu309=)
c.6700C= (p.Leu2234=)
c.6619C= (p.Leu2207=)
n.5970C=
c.6628C= (p.Leu2210=)
c.6505C= (p.Leu2169=)
n.755C=
c.4111C= (p.Leu1371=)
c.6724C= (p.Leu2242=)
c.4534C= (p.Leu1512=)
c.4210C= (p.Leu1404=)
11g.118502520C>GCA382802464KMT2Ac.6727C>G (p.Leu2243Val)
c.6718C>G (p.Leu2240Val)
c.667C>G (p.Leu223Val)
c.925C>G (p.Leu309Val)
c.6700C>G (p.Leu2234Val)
c.6619C>G (p.Leu2207Val)
n.5970C>G
c.6628C>G (p.Leu2210Val)
c.6505C>G (p.Leu2169Val)
n.755C>G
c.4111C>G (p.Leu1371Val)
c.6724C>G (p.Leu2242Val)
c.4534C>G (p.Leu1512Val)
c.4210C>G (p.Leu1404Val)
 dbSNP
11g.118502520C>TCA382802462KMT2Ac.6727C>T (p.Leu2243Phe)
c.6718C>T (p.Leu2240Phe)
c.667C>T (p.Leu223Phe)
c.925C>T (p.Leu309Phe)
c.6700C>T (p.Leu2234Phe)
c.6619C>T (p.Leu2207Phe)
n.5970C>T
c.6628C>T (p.Leu2210Phe)
c.6505C>T (p.Leu2169Phe)
n.755C>T
c.4111C>T (p.Leu1371Phe)
c.6724C>T (p.Leu2242Phe)
c.4534C>T (p.Leu1512Phe)
c.4210C>T (p.Leu1404Phe)
 ClinVar dbSNP gnomAD v4
11g.118502521T>ACA382802466KMT2Ac.6728T>A (p.Leu2243His)
c.6719T>A (p.Leu2240His)
c.668T>A (p.Leu223His)
c.926T>A (p.Leu309His)
c.6701T>A (p.Leu2234His)
c.6620T>A (p.Leu2207His)
n.5971T>A
c.6629T>A (p.Leu2210His)
c.6506T>A (p.Leu2169His)
n.756T>A
c.4112T>A (p.Leu1371His)
c.6725T>A (p.Leu2242His)
c.4535T>A (p.Leu1512His)
c.4211T>A (p.Leu1404His)
11g.118502521T>CCA382802468KMT2Ac.6728T>C (p.Leu2243Pro)
c.6719T>C (p.Leu2240Pro)
c.668T>C (p.Leu223Pro)
c.926T>C (p.Leu309Pro)
c.6701T>C (p.Leu2234Pro)
c.6620T>C (p.Leu2207Pro)
n.5971T>C
c.6629T>C (p.Leu2210Pro)
c.6506T>C (p.Leu2169Pro)
n.756T>C
c.4112T>C (p.Leu1371Pro)
c.6725T>C (p.Leu2242Pro)
c.4535T>C (p.Leu1512Pro)
c.4211T>C (p.Leu1404Pro)
11g.118502521T>GCA382802467KMT2Ac.6728T>G (p.Leu2243Arg)
c.6719T>G (p.Leu2240Arg)
c.668T>G (p.Leu223Arg)
c.926T>G (p.Leu309Arg)
c.6701T>G (p.Leu2234Arg)
c.6620T>G (p.Leu2207Arg)
n.5971T>G
c.6629T>G (p.Leu2210Arg)
c.6506T>G (p.Leu2169Arg)
n.756T>G
c.4112T>G (p.Leu1371Arg)
c.6725T>G (p.Leu2242Arg)
c.4535T>G (p.Leu1512Arg)
c.4211T>G (p.Leu1404Arg)
11g.118502522C>ACA477093494KMT2Ac.6729C>A (p.Leu2243=)
c.6720C>A (p.Leu2240=)
c.669C>A (p.Leu223=)
c.927C>A (p.Leu309=)
c.6702C>A (p.Leu2234=)
c.6621C>A (p.Leu2207=)
n.5972C>A
c.6630C>A (p.Leu2210=)
c.6507C>A (p.Leu2169=)
n.757C>A
c.4113C>A (p.Leu1371=)
c.6726C>A (p.Leu2242=)
c.4536C>A (p.Leu1512=)
c.4212C>A (p.Leu1404=)
11g.118502522C>GCA477093495KMT2Ac.6729C>G (p.Leu2243=)
c.6720C>G (p.Leu2240=)
c.669C>G (p.Leu223=)
c.927C>G (p.Leu309=)
c.6702C>G (p.Leu2234=)
c.6621C>G (p.Leu2207=)
n.5972C>G
c.6630C>G (p.Leu2210=)
c.6507C>G (p.Leu2169=)
n.757C>G
c.4113C>G (p.Leu1371=)
c.6726C>G (p.Leu2242=)
c.4536C>G (p.Leu1512=)
c.4212C>G (p.Leu1404=)
11g.118502522C>TCA477093496KMT2Ac.6729C>T (p.Leu2243=)
c.6720C>T (p.Leu2240=)
c.669C>T (p.Leu223=)
c.927C>T (p.Leu309=)
c.6702C>T (p.Leu2234=)
c.6621C>T (p.Leu2207=)
n.5972C>T
c.6630C>T (p.Leu2210=)
c.6507C>T (p.Leu2169=)
n.757C>T
c.4113C>T (p.Leu1371=)
c.6726C>T (p.Leu2242=)
c.4536C>T (p.Leu1512=)
c.4212C>T (p.Leu1404=)
11g.118502523C>ACA477093497KMT2Ac.6730C>A (p.Arg2244=)
c.6721C>A (p.Arg2241=)
c.670C>A (p.Arg224=)
c.928C>A (p.Arg310=)
c.6703C>A (p.Arg2235=)
c.6622C>A (p.Arg2208=)
n.5973C>A
c.6631C>A (p.Arg2211=)
c.6508C>A (p.Arg2170=)
n.758C>A
c.4114C>A (p.Arg1372=)
c.6727C>A (p.Arg2243=)
c.4537C>A (p.Arg1513=)
c.4213C>A (p.Arg1405=)
11g.118502523C=CA2003526370KMT2Ac.6730C= (p.Arg2244=)
c.6721C= (p.Arg2241=)
c.670C= (p.Arg224=)
c.928C= (p.Arg310=)
c.6703C= (p.Arg2235=)
c.6622C= (p.Arg2208=)
n.5973C=
c.6631C= (p.Arg2211=)
c.6508C= (p.Arg2170=)
n.758C=
c.4114C= (p.Arg1372=)
c.6727C= (p.Arg2243=)
c.4537C= (p.Arg1513=)
c.4213C= (p.Arg1405=)
11g.118502523C>GCA382802470KMT2Ac.6730C>G (p.Arg2244Gly)
c.6721C>G (p.Arg2241Gly)
c.670C>G (p.Arg224Gly)
c.928C>G (p.Arg310Gly)
c.6703C>G (p.Arg2235Gly)
c.6622C>G (p.Arg2208Gly)
n.5973C>G
c.6631C>G (p.Arg2211Gly)
c.6508C>G (p.Arg2170Gly)
n.758C>G
c.4114C>G (p.Arg1372Gly)
c.6727C>G (p.Arg2243Gly)
c.4537C>G (p.Arg1513Gly)
c.4213C>G (p.Arg1405Gly)
 gnomAD v4
11g.118502523C>TCA6304285KMT2Ac.6730C>T (p.Arg2244Trp)
c.6721C>T (p.Arg2241Trp)
c.670C>T (p.Arg224Trp)
c.928C>T (p.Arg310Trp)
c.6703C>T (p.Arg2235Trp)
c.6622C>T (p.Arg2208Trp)
n.5973C>T
c.6631C>T (p.Arg2211Trp)
c.6508C>T (p.Arg2170Trp)
n.758C>T
c.4114C>T (p.Arg1372Trp)
c.6727C>T (p.Arg2243Trp)
c.4537C>T (p.Arg1513Trp)
c.4213C>T (p.Arg1405Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502524G>ACA6304286KMT2Ac.6731G>A (p.Arg2244Gln)
c.6722G>A (p.Arg2241Gln)
c.671G>A (p.Arg224Gln)
c.929G>A (p.Arg310Gln)
c.6704G>A (p.Arg2235Gln)
c.6623G>A (p.Arg2208Gln)
n.5974G>A
c.6632G>A (p.Arg2211Gln)
c.6509G>A (p.Arg2170Gln)
n.759G>A
c.4115G>A (p.Arg1372Gln)
c.6728G>A (p.Arg2243Gln)
c.4538G>A (p.Arg1513Gln)
c.4214G>A (p.Arg1405Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502524G>CCA382802474KMT2Ac.6731G>C (p.Arg2244Pro)
c.6722G>C (p.Arg2241Pro)
c.671G>C (p.Arg224Pro)
c.929G>C (p.Arg310Pro)
c.6704G>C (p.Arg2235Pro)
c.6623G>C (p.Arg2208Pro)
n.5974G>C
c.6632G>C (p.Arg2211Pro)
c.6509G>C (p.Arg2170Pro)
n.759G>C
c.4115G>C (p.Arg1372Pro)
c.6728G>C (p.Arg2243Pro)
c.4538G>C (p.Arg1513Pro)
c.4214G>C (p.Arg1405Pro)
 dbSNP
11g.118502524G=CA2003526374KMT2Ac.6731G= (p.Arg2244=)
c.6722G= (p.Arg2241=)
c.671G= (p.Arg224=)
c.929G= (p.Arg310=)
c.6704G= (p.Arg2235=)
c.6623G= (p.Arg2208=)
n.5974G=
c.6632G= (p.Arg2211=)
c.6509G= (p.Arg2170=)
n.759G=
c.4115G= (p.Arg1372=)
c.6728G= (p.Arg2243=)
c.4538G= (p.Arg1513=)
c.4214G= (p.Arg1405=)
11g.118502524G>TCA382802475KMT2Ac.6731G>T (p.Arg2244Leu)
c.6722G>T (p.Arg2241Leu)
c.671G>T (p.Arg224Leu)
c.929G>T (p.Arg310Leu)
c.6704G>T (p.Arg2235Leu)
c.6623G>T (p.Arg2208Leu)
n.5974G>T
c.6632G>T (p.Arg2211Leu)
c.6509G>T (p.Arg2170Leu)
n.759G>T
c.4115G>T (p.Arg1372Leu)
c.6728G>T (p.Arg2243Leu)
c.4538G>T (p.Arg1513Leu)
c.4214G>T (p.Arg1405Leu)
11g.118502525G>ACA477093498KMT2Ac.6732G>A (p.Arg2244=)
c.6723G>A (p.Arg2241=)
c.672G>A (p.Arg224=)
c.930G>A (p.Arg310=)
c.6705G>A (p.Arg2235=)
c.6624G>A (p.Arg2208=)
n.5975G>A
c.6633G>A (p.Arg2211=)
c.6510G>A (p.Arg2170=)
n.760G>A
c.4116G>A (p.Arg1372=)
c.6729G>A (p.Arg2243=)
c.4539G>A (p.Arg1513=)
c.4215G>A (p.Arg1405=)
 COSMIC COSMIC
11g.118502525G>CCA477093500KMT2Ac.6732G>C (p.Arg2244=)
c.6723G>C (p.Arg2241=)
c.672G>C (p.Arg224=)
c.930G>C (p.Arg310=)
c.6705G>C (p.Arg2235=)
c.6624G>C (p.Arg2208=)
n.5975G>C
c.6633G>C (p.Arg2211=)
c.6510G>C (p.Arg2170=)
n.760G>C
c.4116G>C (p.Arg1372=)
c.6729G>C (p.Arg2243=)
c.4539G>C (p.Arg1513=)
c.4215G>C (p.Arg1405=)
11g.118502525G=CA2003526379KMT2Ac.6732G= (p.Arg2244=)
c.6723G= (p.Arg2241=)
c.672G= (p.Arg224=)
c.930G= (p.Arg310=)
c.6705G= (p.Arg2235=)
c.6624G= (p.Arg2208=)
n.5975G=
c.6633G= (p.Arg2211=)
c.6510G= (p.Arg2170=)
n.760G=
c.4116G= (p.Arg1372=)
c.6729G= (p.Arg2243=)
c.4539G= (p.Arg1513=)
c.4215G= (p.Arg1405=)
11g.118502525G>TCA477093499KMT2Ac.6732G>T (p.Arg2244=)
c.6723G>T (p.Arg2241=)
c.672G>T (p.Arg224=)
c.930G>T (p.Arg310=)
c.6705G>T (p.Arg2235=)
c.6624G>T (p.Arg2208=)
n.5975G>T
c.6633G>T (p.Arg2211=)
c.6510G>T (p.Arg2170=)
n.760G>T
c.4116G>T (p.Arg1372=)
c.6729G>T (p.Arg2243=)
c.4539G>T (p.Arg1513=)
c.4215G>T (p.Arg1405=)
11g.118502526A>CCA382802477KMT2Ac.6733A>C (p.Ile2245Leu)
c.6724A>C (p.Ile2242Leu)
c.673A>C (p.Ile225Leu)
c.931A>C (p.Ile311Leu)
c.6706A>C (p.Ile2236Leu)
c.6625A>C (p.Ile2209Leu)
n.5976A>C
c.6634A>C (p.Ile2212Leu)
c.6511A>C (p.Ile2171Leu)
n.761A>C
c.4117A>C (p.Ile1373Leu)
c.6730A>C (p.Ile2244Leu)
c.4540A>C (p.Ile1514Leu)
c.4216A>C (p.Ile1406Leu)
11g.118502526A>GCA382802479KMT2Ac.6733A>G (p.Ile2245Val)
c.6724A>G (p.Ile2242Val)
c.673A>G (p.Ile225Val)
c.931A>G (p.Ile311Val)
c.6706A>G (p.Ile2236Val)
c.6625A>G (p.Ile2209Val)
n.5976A>G
c.6634A>G (p.Ile2212Val)
c.6511A>G (p.Ile2171Val)
n.761A>G
c.4117A>G (p.Ile1373Val)
c.6730A>G (p.Ile2244Val)
c.4540A>G (p.Ile1514Val)
c.4216A>G (p.Ile1406Val)
11g.118502526A>TCA382802481KMT2Ac.6733A>T (p.Ile2245Leu)
c.6724A>T (p.Ile2242Leu)
c.673A>T (p.Ile225Leu)
c.931A>T (p.Ile311Leu)
c.6706A>T (p.Ile2236Leu)
c.6625A>T (p.Ile2209Leu)
n.5976A>T
c.6634A>T (p.Ile2212Leu)
c.6511A>T (p.Ile2171Leu)
n.761A>T
c.4117A>T (p.Ile1373Leu)
c.6730A>T (p.Ile2244Leu)
c.4540A>T (p.Ile1514Leu)
c.4216A>T (p.Ile1406Leu)
11g.118502528_118502530dupCA942727426KMT2Ac.6735_6737dup (p.Ile2245_Met2246insIle)
c.6726_6728dup (p.Ile2242_Met2243insIle)
c.675_677dup (p.Ile225_Met226insIle)
c.933_935dup (p.Ile311_Met312insIle)
c.6708_6710dup (p.Ile2236_Met2237insIle)
c.6627_6629dup (p.Ile2209_Met2210insIle)
n.5978_5980dup
c.6636_6638dup (p.Ile2212_Met2213insIle)
c.6513_6515dup (p.Ile2171_Met2172insIle)
n.763_765dup
c.4119_4121dup (p.Ile1373_Met1374insIle)
c.6732_6734dup (p.Ile2244_Met2245insIle)
c.4542_4544dup (p.Ile1514_Met1515insIle)
c.4218_4220dup (p.Ile1406_Met1407insIle)
 dbSNP gnomAD v3 gnomAD v4
11g.118502528_118502530delCA2580083597KMT2Ac.6735_6737del (p.Ile2245del)
c.6726_6728del (p.Ile2242del)
c.675_677del (p.Ile225del)
c.933_935del (p.Ile311del)
c.6708_6710del (p.Ile2236del)
c.6627_6629del (p.Ile2209del)
n.5978_5980del
c.6636_6638del (p.Ile2212del)
c.6513_6515del (p.Ile2171del)
n.763_765del
c.4119_4121del (p.Ile1373del)
c.6732_6734del (p.Ile2244del)
c.4542_4544del (p.Ile1514del)
c.4218_4220del (p.Ile1406del)
 ClinVar
11g.118502527T>ACA382802483KMT2Ac.6734T>A (p.Ile2245Lys)
c.6725T>A (p.Ile2242Lys)
c.674T>A (p.Ile225Lys)
c.932T>A (p.Ile311Lys)
c.6707T>A (p.Ile2236Lys)
c.6626T>A (p.Ile2209Lys)
n.5977T>A
c.6635T>A (p.Ile2212Lys)
c.6512T>A (p.Ile2171Lys)
n.762T>A
c.4118T>A (p.Ile1373Lys)
c.6731T>A (p.Ile2244Lys)
c.4541T>A (p.Ile1514Lys)
c.4217T>A (p.Ile1406Lys)
11g.118502527T>CCA382802485KMT2Ac.6734T>C (p.Ile2245Thr)
c.6725T>C (p.Ile2242Thr)
c.674T>C (p.Ile225Thr)
c.932T>C (p.Ile311Thr)
c.6707T>C (p.Ile2236Thr)
c.6626T>C (p.Ile2209Thr)
n.5977T>C
c.6635T>C (p.Ile2212Thr)
c.6512T>C (p.Ile2171Thr)
n.762T>C
c.4118T>C (p.Ile1373Thr)
c.6731T>C (p.Ile2244Thr)
c.4541T>C (p.Ile1514Thr)
c.4217T>C (p.Ile1406Thr)
 gnomAD v4
11g.118502527T>GCA382802487KMT2Ac.6734T>G (p.Ile2245Arg)
c.6725T>G (p.Ile2242Arg)
c.674T>G (p.Ile225Arg)
c.932T>G (p.Ile311Arg)
c.6707T>G (p.Ile2236Arg)
c.6626T>G (p.Ile2209Arg)
n.5977T>G
c.6635T>G (p.Ile2212Arg)
c.6512T>G (p.Ile2171Arg)
n.762T>G
c.4118T>G (p.Ile1373Arg)
c.6731T>G (p.Ile2244Arg)
c.4541T>G (p.Ile1514Arg)
c.4217T>G (p.Ile1406Arg)
11g.118502528A=CA2003526383KMT2Ac.6735A= (p.Ile2245=)
c.6726A= (p.Ile2242=)
c.675A= (p.Ile225=)
c.933A= (p.Ile311=)
c.6708A= (p.Ile2236=)
c.6627A= (p.Ile2209=)
n.5978A=
c.6636A= (p.Ile2212=)
c.6513A= (p.Ile2171=)
n.763A=
c.4119A= (p.Ile1373=)
c.6732A= (p.Ile2244=)
c.4542A= (p.Ile1514=)
c.4218A= (p.Ile1406=)
11g.118502528A>CCA477093501KMT2Ac.6735A>C (p.Ile2245=)
c.6726A>C (p.Ile2242=)
c.675A>C (p.Ile225=)
c.933A>C (p.Ile311=)
c.6708A>C (p.Ile2236=)
c.6627A>C (p.Ile2209=)
n.5978A>C
c.6636A>C (p.Ile2212=)
c.6513A>C (p.Ile2171=)
n.763A>C
c.4119A>C (p.Ile1373=)
c.6732A>C (p.Ile2244=)
c.4542A>C (p.Ile1514=)
c.4218A>C (p.Ile1406=)
11g.118502528A>GCA382802488KMT2Ac.6735A>G (p.Ile2245Met)
c.6726A>G (p.Ile2242Met)
c.675A>G (p.Ile225Met)
c.933A>G (p.Ile311Met)
c.6708A>G (p.Ile2236Met)
c.6627A>G (p.Ile2209Met)
n.5978A>G
c.6636A>G (p.Ile2212Met)
c.6513A>G (p.Ile2171Met)
n.763A>G
c.4119A>G (p.Ile1373Met)
c.6732A>G (p.Ile2244Met)
c.4542A>G (p.Ile1514Met)
c.4218A>G (p.Ile1406Met)
 dbSNP gnomAD v2 gnomAD v4
11g.118502528A>TCA477093502KMT2Ac.6735A>T (p.Ile2245=)
c.6726A>T (p.Ile2242=)
c.675A>T (p.Ile225=)
c.933A>T (p.Ile311=)
c.6708A>T (p.Ile2236=)
c.6627A>T (p.Ile2209=)
n.5978A>T
c.6636A>T (p.Ile2212=)
c.6513A>T (p.Ile2171=)
n.763A>T
c.4119A>T (p.Ile1373=)
c.6732A>T (p.Ile2244=)
c.4542A>T (p.Ile1514=)
c.4218A>T (p.Ile1406=)
11g.118502529delCA2695215541KMT2Ac.6736del (p.Met2246CysfsTer4)
c.6727del (p.Met2243CysfsTer4)
c.676del (p.Met226CysfsTer4)
c.934del (p.Met312CysfsTer4)
c.6709del (p.Met2237CysfsTer4)
c.6628del (p.Met2210CysfsTer4)
n.5979del
c.6637del (p.Met2213CysfsTer4)
c.6514del (p.Met2172CysfsTer4)
n.764del
c.4120del (p.Met1374CysfsTer4)
c.6733del (p.Met2245CysfsTer4)
c.4543del (p.Met1515CysfsTer4)
c.4219del (p.Met1407CysfsTer4)
11g.118502529A=CA2003526385KMT2Ac.6736A= (p.Met2246=)
c.6727A= (p.Met2243=)
c.676A= (p.Met226=)
c.934A= (p.Met312=)
c.6709A= (p.Met2237=)
c.6628A= (p.Met2210=)
n.5979A=
c.6637A= (p.Met2213=)
c.6514A= (p.Met2172=)
n.764A=
c.4120A= (p.Met1374=)
c.6733A= (p.Met2245=)
c.4543A= (p.Met1515=)
c.4219A= (p.Met1407=)
11g.118502529A>CCA382802489KMT2Ac.6736A>C (p.Met2246Leu)
c.6727A>C (p.Met2243Leu)
c.676A>C (p.Met226Leu)
c.934A>C (p.Met312Leu)
c.6709A>C (p.Met2237Leu)
c.6628A>C (p.Met2210Leu)
n.5979A>C
c.6637A>C (p.Met2213Leu)
c.6514A>C (p.Met2172Leu)
n.764A>C
c.4120A>C (p.Met1374Leu)
c.6733A>C (p.Met2245Leu)
c.4543A>C (p.Met1515Leu)
c.4219A>C (p.Met1407Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.118502529A>GCA382802492KMT2Ac.6736A>G (p.Met2246Val)
c.6727A>G (p.Met2243Val)
c.676A>G (p.Met226Val)
c.934A>G (p.Met312Val)
c.6709A>G (p.Met2237Val)
c.6628A>G (p.Met2210Val)
n.5979A>G
c.6637A>G (p.Met2213Val)
c.6514A>G (p.Met2172Val)
n.764A>G
c.4120A>G (p.Met1374Val)
c.6733A>G (p.Met2245Val)
c.4543A>G (p.Met1515Val)
c.4219A>G (p.Met1407Val)
11g.118502529A>TCA382802490KMT2Ac.6736A>T (p.Met2246Leu)
c.6727A>T (p.Met2243Leu)
c.676A>T (p.Met226Leu)
c.934A>T (p.Met312Leu)
c.6709A>T (p.Met2237Leu)
c.6628A>T (p.Met2210Leu)
n.5979A>T
c.6637A>T (p.Met2213Leu)
c.6514A>T (p.Met2172Leu)
n.764A>T
c.4120A>T (p.Met1374Leu)
c.6733A>T (p.Met2245Leu)
c.4543A>T (p.Met1515Leu)
c.4219A>T (p.Met1407Leu)
11g.118502530T>ACA382802495KMT2Ac.6737T>A (p.Met2246Lys)
c.6728T>A (p.Met2243Lys)
c.677T>A (p.Met226Lys)
c.935T>A (p.Met312Lys)
c.6710T>A (p.Met2237Lys)
c.6629T>A (p.Met2210Lys)
n.5980T>A
c.6638T>A (p.Met2213Lys)
c.6515T>A (p.Met2172Lys)
n.765T>A
c.4121T>A (p.Met1374Lys)
c.6734T>A (p.Met2245Lys)
c.4544T>A (p.Met1515Lys)
c.4220T>A (p.Met1407Lys)
11g.118502530T>CCA6304287KMT2Ac.6737T>C (p.Met2246Thr)
c.6728T>C (p.Met2243Thr)
c.677T>C (p.Met226Thr)
c.935T>C (p.Met312Thr)
c.6710T>C (p.Met2237Thr)
c.6629T>C (p.Met2210Thr)
n.5980T>C
c.6638T>C (p.Met2213Thr)
c.6515T>C (p.Met2172Thr)
n.765T>C
c.4121T>C (p.Met1374Thr)
c.6734T>C (p.Met2245Thr)
c.4544T>C (p.Met1515Thr)
c.4220T>C (p.Met1407Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502530T>GCA382802496KMT2Ac.6737T>G (p.Met2246Arg)
c.6728T>G (p.Met2243Arg)
c.677T>G (p.Met226Arg)
c.935T>G (p.Met312Arg)
c.6710T>G (p.Met2237Arg)
c.6629T>G (p.Met2210Arg)
n.5980T>G
c.6638T>G (p.Met2213Arg)
c.6515T>G (p.Met2172Arg)
n.765T>G
c.4121T>G (p.Met1374Arg)
c.6734T>G (p.Met2245Arg)
c.4544T>G (p.Met1515Arg)
c.4220T>G (p.Met1407Arg)
11g.118502530T=CA2003526387KMT2Ac.6737T= (p.Met2246=)
c.6728T= (p.Met2243=)
c.677T= (p.Met226=)
c.935T= (p.Met312=)
c.6710T= (p.Met2237=)
c.6629T= (p.Met2210=)
n.5980T=
c.6638T= (p.Met2213=)
c.6515T= (p.Met2172=)
n.765T=
c.4121T= (p.Met1374=)
c.6734T= (p.Met2245=)
c.4544T= (p.Met1515=)
c.4220T= (p.Met1407=)
11g.118502531G>ACA382802499KMT2Ac.6738G>A (p.Met2246Ile)
c.6729G>A (p.Met2243Ile)
c.678G>A (p.Met226Ile)
c.936G>A (p.Met312Ile)
c.6711G>A (p.Met2237Ile)
c.6630G>A (p.Met2210Ile)
n.5981G>A
c.6639G>A (p.Met2213Ile)
c.6516G>A (p.Met2172Ile)
n.766G>A
c.4122G>A (p.Met1374Ile)
c.6735G>A (p.Met2245Ile)
c.4545G>A (p.Met1515Ile)
c.4221G>A (p.Met1407Ile)
11g.118502531G>CCA382802501KMT2Ac.6738G>C (p.Met2246Ile)
c.6729G>C (p.Met2243Ile)
c.678G>C (p.Met226Ile)
c.936G>C (p.Met312Ile)
c.6711G>C (p.Met2237Ile)
c.6630G>C (p.Met2210Ile)
n.5981G>C
c.6639G>C (p.Met2213Ile)
c.6516G>C (p.Met2172Ile)
n.766G>C
c.4122G>C (p.Met1374Ile)
c.6735G>C (p.Met2245Ile)
c.4545G>C (p.Met1515Ile)
c.4221G>C (p.Met1407Ile)
 dbSNP
11g.118502531G>TCA382802502KMT2Ac.6738G>T (p.Met2246Ile)
c.6729G>T (p.Met2243Ile)
c.678G>T (p.Met226Ile)
c.936G>T (p.Met312Ile)
c.6711G>T (p.Met2237Ile)
c.6630G>T (p.Met2210Ile)
n.5981G>T
c.6639G>T (p.Met2213Ile)
c.6516G>T (p.Met2172Ile)
n.766G>T
c.4122G>T (p.Met1374Ile)
c.6735G>T (p.Met2245Ile)
c.4545G>T (p.Met1515Ile)
c.4221G>T (p.Met1407Ile)
11g.118502532T>ACA382802504KMT2Ac.6739T>A (p.Ser2247Thr)
c.6730T>A (p.Ser2244Thr)
c.679T>A (p.Ser227Thr)
c.937T>A (p.Ser313Thr)
c.6712T>A (p.Ser2238Thr)
c.6631T>A (p.Ser2211Thr)
n.5982T>A
c.6640T>A (p.Ser2214Thr)
c.6517T>A (p.Ser2173Thr)
n.767T>A
c.4123T>A (p.Ser1375Thr)
c.6736T>A (p.Ser2246Thr)
c.4546T>A (p.Ser1516Thr)
c.4222T>A (p.Ser1408Thr)
11g.118502532T>CCA382802505KMT2Ac.6739T>C (p.Ser2247Pro)
c.6730T>C (p.Ser2244Pro)
c.679T>C (p.Ser227Pro)
c.937T>C (p.Ser313Pro)
c.6712T>C (p.Ser2238Pro)
c.6631T>C (p.Ser2211Pro)
n.5982T>C
c.6640T>C (p.Ser2214Pro)
c.6517T>C (p.Ser2173Pro)
n.767T>C
c.4123T>C (p.Ser1375Pro)
c.6736T>C (p.Ser2246Pro)
c.4546T>C (p.Ser1516Pro)
c.4222T>C (p.Ser1408Pro)
11g.118502532T>GCA382802507KMT2Ac.6739T>G (p.Ser2247Ala)
c.6730T>G (p.Ser2244Ala)
c.679T>G (p.Ser227Ala)
c.937T>G (p.Ser313Ala)
c.6712T>G (p.Ser2238Ala)
c.6631T>G (p.Ser2211Ala)
n.5982T>G
c.6640T>G (p.Ser2214Ala)
c.6517T>G (p.Ser2173Ala)
n.767T>G
c.4123T>G (p.Ser1375Ala)
c.6736T>G (p.Ser2246Ala)
c.4546T>G (p.Ser1516Ala)
c.4222T>G (p.Ser1408Ala)
11g.118502533C>ACA382802512KMT2Ac.6740C>A (p.Ser2247Tyr)
c.6731C>A (p.Ser2244Tyr)
c.680C>A (p.Ser227Tyr)
c.938C>A (p.Ser313Tyr)
c.6713C>A (p.Ser2238Tyr)
c.6632C>A (p.Ser2211Tyr)
n.5983C>A
c.6641C>A (p.Ser2214Tyr)
c.6518C>A (p.Ser2173Tyr)
n.768C>A
c.4124C>A (p.Ser1375Tyr)
c.6737C>A (p.Ser2246Tyr)
c.4547C>A (p.Ser1516Tyr)
c.4223C>A (p.Ser1408Tyr)
11g.118502533C>GCA382802514KMT2Ac.6740C>G (p.Ser2247Cys)
c.6731C>G (p.Ser2244Cys)
c.680C>G (p.Ser227Cys)
c.938C>G (p.Ser313Cys)
c.6713C>G (p.Ser2238Cys)
c.6632C>G (p.Ser2211Cys)
n.5983C>G
c.6641C>G (p.Ser2214Cys)
c.6518C>G (p.Ser2173Cys)
n.768C>G
c.4124C>G (p.Ser1375Cys)
c.6737C>G (p.Ser2246Cys)
c.4547C>G (p.Ser1516Cys)
c.4223C>G (p.Ser1408Cys)
11g.118502533C>TCA382802509KMT2Ac.6740C>T (p.Ser2247Phe)
c.6731C>T (p.Ser2244Phe)
c.680C>T (p.Ser227Phe)
c.938C>T (p.Ser313Phe)
c.6713C>T (p.Ser2238Phe)
c.6632C>T (p.Ser2211Phe)
n.5983C>T
c.6641C>T (p.Ser2214Phe)
c.6518C>T (p.Ser2173Phe)
n.768C>T
c.4124C>T (p.Ser1375Phe)
c.6737C>T (p.Ser2246Phe)
c.4547C>T (p.Ser1516Phe)
c.4223C>T (p.Ser1408Phe)
11g.118502534T>ACA477093503KMT2Ac.6741T>A (p.Ser2247=)
c.6732T>A (p.Ser2244=)
c.681T>A (p.Ser227=)
c.939T>A (p.Ser313=)
c.6714T>A (p.Ser2238=)
c.6633T>A (p.Ser2211=)
n.5984T>A
c.6642T>A (p.Ser2214=)
c.6519T>A (p.Ser2173=)
n.769T>A
c.4125T>A (p.Ser1375=)
c.6738T>A (p.Ser2246=)
c.4548T>A (p.Ser1516=)
c.4224T>A (p.Ser1408=)
11g.118502534T>CCA477093504KMT2Ac.6741T>C (p.Ser2247=)
c.6732T>C (p.Ser2244=)
c.681T>C (p.Ser227=)
c.939T>C (p.Ser313=)
c.6714T>C (p.Ser2238=)
c.6633T>C (p.Ser2211=)
n.5984T>C
c.6642T>C (p.Ser2214=)
c.6519T>C (p.Ser2173=)
n.769T>C
c.4125T>C (p.Ser1375=)
c.6738T>C (p.Ser2246=)
c.4548T>C (p.Ser1516=)
c.4224T>C (p.Ser1408=)
11g.118502534T>GCA477093506KMT2Ac.6741T>G (p.Ser2247=)
c.6732T>G (p.Ser2244=)
c.681T>G (p.Ser227=)
c.939T>G (p.Ser313=)
c.6714T>G (p.Ser2238=)
c.6633T>G (p.Ser2211=)
n.5984T>G
c.6642T>G (p.Ser2214=)
c.6519T>G (p.Ser2173=)
n.769T>G
c.4125T>G (p.Ser1375=)
c.6738T>G (p.Ser2246=)
c.4548T>G (p.Ser1516=)
c.4224T>G (p.Ser1408=)
11g.118502535C>ACA382802517KMT2Ac.6742C>A (p.Pro2248Thr)
c.6733C>A (p.Pro2245Thr)
c.682C>A (p.Pro228Thr)
c.940C>A (p.Pro314Thr)
c.6715C>A (p.Pro2239Thr)
c.6634C>A (p.Pro2212Thr)
n.5985C>A
c.6643C>A (p.Pro2215Thr)
c.6520C>A (p.Pro2174Thr)
n.770C>A
c.4126C>A (p.Pro1376Thr)
c.6739C>A (p.Pro2247Thr)
c.4549C>A (p.Pro1517Thr)
c.4225C>A (p.Pro1409Thr)
11g.118502535C>GCA382802518KMT2Ac.6742C>G (p.Pro2248Ala)
c.6733C>G (p.Pro2245Ala)
c.682C>G (p.Pro228Ala)
c.940C>G (p.Pro314Ala)
c.6715C>G (p.Pro2239Ala)
c.6634C>G (p.Pro2212Ala)
n.5985C>G
c.6643C>G (p.Pro2215Ala)
c.6520C>G (p.Pro2174Ala)
n.770C>G
c.4126C>G (p.Pro1376Ala)
c.6739C>G (p.Pro2247Ala)
c.4549C>G (p.Pro1517Ala)
c.4225C>G (p.Pro1409Ala)
11g.118502535C>TCA382802520KMT2Ac.6742C>T (p.Pro2248Ser)
c.6733C>T (p.Pro2245Ser)
c.682C>T (p.Pro228Ser)
c.940C>T (p.Pro314Ser)
c.6715C>T (p.Pro2239Ser)
c.6634C>T (p.Pro2212Ser)
n.5985C>T
c.6643C>T (p.Pro2215Ser)
c.6520C>T (p.Pro2174Ser)
n.770C>T
c.4126C>T (p.Pro1376Ser)
c.6739C>T (p.Pro2247Ser)
c.4549C>T (p.Pro1517Ser)
c.4225C>T (p.Pro1409Ser)
 gnomAD v4
11g.118502536C>ACA382802523KMT2Ac.6743C>A (p.Pro2248Gln)
c.6734C>A (p.Pro2245Gln)
c.683C>A (p.Pro228Gln)
c.941C>A (p.Pro314Gln)
c.6716C>A (p.Pro2239Gln)
c.6635C>A (p.Pro2212Gln)
n.5986C>A
c.6644C>A (p.Pro2215Gln)
c.6521C>A (p.Pro2174Gln)
n.771C>A
c.4127C>A (p.Pro1376Gln)
c.6740C>A (p.Pro2247Gln)
c.4550C>A (p.Pro1517Gln)
c.4226C>A (p.Pro1409Gln)
11g.118502536C>GCA382802525KMT2Ac.6743C>G (p.Pro2248Arg)
c.6734C>G (p.Pro2245Arg)
c.683C>G (p.Pro228Arg)
c.941C>G (p.Pro314Arg)
c.6716C>G (p.Pro2239Arg)
c.6635C>G (p.Pro2212Arg)
n.5986C>G
c.6644C>G (p.Pro2215Arg)
c.6521C>G (p.Pro2174Arg)
n.771C>G
c.4127C>G (p.Pro1376Arg)
c.6740C>G (p.Pro2247Arg)
c.4550C>G (p.Pro1517Arg)
c.4226C>G (p.Pro1409Arg)
11g.118502536C>TCA382802526KMT2Ac.6743C>T (p.Pro2248Leu)
c.6734C>T (p.Pro2245Leu)
c.683C>T (p.Pro228Leu)
c.941C>T (p.Pro314Leu)
c.6716C>T (p.Pro2239Leu)
c.6635C>T (p.Pro2212Leu)
n.5986C>T
c.6644C>T (p.Pro2215Leu)
c.6521C>T (p.Pro2174Leu)
n.771C>T
c.4127C>T (p.Pro1376Leu)
c.6740C>T (p.Pro2247Leu)
c.4550C>T (p.Pro1517Leu)
c.4226C>T (p.Pro1409Leu)
11g.118502537A>CCA477093507KMT2Ac.6744A>C (p.Pro2248=)
c.6735A>C (p.Pro2245=)
c.684A>C (p.Pro228=)
c.942A>C (p.Pro314=)
c.6717A>C (p.Pro2239=)
c.6636A>C (p.Pro2212=)
n.5987A>C
c.6645A>C (p.Pro2215=)
c.6522A>C (p.Pro2174=)
n.772A>C
c.4128A>C (p.Pro1376=)
c.6741A>C (p.Pro2247=)
c.4551A>C (p.Pro1517=)
c.4227A>C (p.Pro1409=)
11g.118502537A>GCA477093508KMT2Ac.6744A>G (p.Pro2248=)
c.6735A>G (p.Pro2245=)
c.684A>G (p.Pro228=)
c.942A>G (p.Pro314=)
c.6717A>G (p.Pro2239=)
c.6636A>G (p.Pro2212=)
n.5987A>G
c.6645A>G (p.Pro2215=)
c.6522A>G (p.Pro2174=)
n.772A>G
c.4128A>G (p.Pro1376=)
c.6741A>G (p.Pro2247=)
c.4551A>G (p.Pro1517=)
c.4227A>G (p.Pro1409=)
11g.118502537A>TCA477093509KMT2Ac.6744A>T (p.Pro2248=)
c.6735A>T (p.Pro2245=)
c.684A>T (p.Pro228=)
c.942A>T (p.Pro314=)
c.6717A>T (p.Pro2239=)
c.6636A>T (p.Pro2212=)
n.5987A>T
c.6645A>T (p.Pro2215=)
c.6522A>T (p.Pro2174=)
n.772A>T
c.4128A>T (p.Pro1376=)
c.6741A>T (p.Pro2247=)
c.4551A>T (p.Pro1517=)
c.4227A>T (p.Pro1409=)
11g.118502538A=CA2003526393KMT2Ac.6745A= (p.Met2249=)
c.6736A= (p.Met2246=)
c.685A= (p.Met229=)
c.943A= (p.Met315=)
c.6718A= (p.Met2240=)
c.6637A= (p.Met2213=)
n.5988A=
c.6646A= (p.Met2216=)
c.6523A= (p.Met2175=)
n.773A=
c.4129A= (p.Met1377=)
c.6742A= (p.Met2248=)
c.4552A= (p.Met1518=)
c.4228A= (p.Met1410=)
11g.118502538A>CCA382802528KMT2Ac.6745A>C (p.Met2249Leu)
c.6736A>C (p.Met2246Leu)
c.685A>C (p.Met229Leu)
c.943A>C (p.Met315Leu)
c.6718A>C (p.Met2240Leu)
c.6637A>C (p.Met2213Leu)
n.5988A>C
c.6646A>C (p.Met2216Leu)
c.6523A>C (p.Met2175Leu)
n.773A>C
c.4129A>C (p.Met1377Leu)
c.6742A>C (p.Met2248Leu)
c.4552A>C (p.Met1518Leu)
c.4228A>C (p.Met1410Leu)
11g.118502538A>GCA6304288KMT2Ac.6745A>G (p.Met2249Val)
c.6736A>G (p.Met2246Val)
c.685A>G (p.Met229Val)
c.943A>G (p.Met315Val)
c.6718A>G (p.Met2240Val)
c.6637A>G (p.Met2213Val)
n.5988A>G
c.6646A>G (p.Met2216Val)
c.6523A>G (p.Met2175Val)
n.773A>G
c.4129A>G (p.Met1377Val)
c.6742A>G (p.Met2248Val)
c.4552A>G (p.Met1518Val)
c.4228A>G (p.Met1410Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118502538A>TCA382802531KMT2Ac.6745A>T (p.Met2249Leu)
c.6736A>T (p.Met2246Leu)
c.685A>T (p.Met229Leu)
c.943A>T (p.Met315Leu)
c.6718A>T (p.Met2240Leu)
c.6637A>T (p.Met2213Leu)
n.5988A>T
c.6646A>T (p.Met2216Leu)
c.6523A>T (p.Met2175Leu)
n.773A>T
c.4129A>T (p.Met1377Leu)
c.6742A>T (p.Met2248Leu)
c.4552A>T (p.Met1518Leu)
c.4228A>T (p.Met1410Leu)
 ClinVar
11g.118502539T>ACA6304289KMT2Ac.6746T>A (p.Met2249Lys)
c.6737T>A (p.Met2246Lys)
c.686T>A (p.Met229Lys)
c.944T>A (p.Met315Lys)
c.6719T>A (p.Met2240Lys)
c.6638T>A (p.Met2213Lys)
n.5989T>A
c.6647T>A (p.Met2216Lys)
c.6524T>A (p.Met2175Lys)
n.774T>A
c.4130T>A (p.Met1377Lys)
c.6743T>A (p.Met2248Lys)
c.4553T>A (p.Met1518Lys)
c.4229T>A (p.Met1410Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502539T>CCA229526216KMT2Ac.6746T>C (p.Met2249Thr)
c.6737T>C (p.Met2246Thr)
c.686T>C (p.Met229Thr)
c.944T>C (p.Met315Thr)
c.6719T>C (p.Met2240Thr)
c.6638T>C (p.Met2213Thr)
n.5989T>C
c.6647T>C (p.Met2216Thr)
c.6524T>C (p.Met2175Thr)
n.774T>C
c.4130T>C (p.Met1377Thr)
c.6743T>C (p.Met2248Thr)
c.4553T>C (p.Met1518Thr)
c.4229T>C (p.Met1410Thr)
 ClinVar dbSNP gnomAD v4
11g.118502539T>GCA382802534KMT2Ac.6746T>G (p.Met2249Arg)
c.6737T>G (p.Met2246Arg)
c.686T>G (p.Met229Arg)
c.944T>G (p.Met315Arg)
c.6719T>G (p.Met2240Arg)
c.6638T>G (p.Met2213Arg)
n.5989T>G
c.6647T>G (p.Met2216Arg)
c.6524T>G (p.Met2175Arg)
n.774T>G
c.4130T>G (p.Met1377Arg)
c.6743T>G (p.Met2248Arg)
c.4553T>G (p.Met1518Arg)
c.4229T>G (p.Met1410Arg)
11g.118502539T=CA2003526401KMT2Ac.6746T= (p.Met2249=)
c.6737T= (p.Met2246=)
c.686T= (p.Met229=)
c.944T= (p.Met315=)
c.6719T= (p.Met2240=)
c.6638T= (p.Met2213=)
n.5989T=
c.6647T= (p.Met2216=)
c.6524T= (p.Met2175=)
n.774T=
c.4130T= (p.Met1377=)
c.6743T= (p.Met2248=)
c.4553T= (p.Met1518=)
c.4229T= (p.Met1410=)
11g.118502540G>ACA382802538KMT2Ac.6747G>A (p.Met2249Ile)
c.6738G>A (p.Met2246Ile)
c.687G>A (p.Met229Ile)
c.945G>A (p.Met315Ile)
c.6720G>A (p.Met2240Ile)
c.6639G>A (p.Met2213Ile)
n.5990G>A
c.6648G>A (p.Met2216Ile)
c.6525G>A (p.Met2175Ile)
n.775G>A
c.4131G>A (p.Met1377Ile)
c.6744G>A (p.Met2248Ile)
c.4554G>A (p.Met1518Ile)
c.4230G>A (p.Met1410Ile)
 dbSNP
11g.118502540G>CCA382802536KMT2Ac.6747G>C (p.Met2249Ile)
c.6738G>C (p.Met2246Ile)
c.687G>C (p.Met229Ile)
c.945G>C (p.Met315Ile)
c.6720G>C (p.Met2240Ile)
c.6639G>C (p.Met2213Ile)
n.5990G>C
c.6648G>C (p.Met2216Ile)
c.6525G>C (p.Met2175Ile)
n.775G>C
c.4131G>C (p.Met1377Ile)
c.6744G>C (p.Met2248Ile)
c.4554G>C (p.Met1518Ile)
c.4230G>C (p.Met1410Ile)
11g.118502540G>TCA382802537KMT2Ac.6747G>T (p.Met2249Ile)
c.6738G>T (p.Met2246Ile)
c.687G>T (p.Met229Ile)
c.945G>T (p.Met315Ile)
c.6720G>T (p.Met2240Ile)
c.6639G>T (p.Met2213Ile)
n.5990G>T
c.6648G>T (p.Met2216Ile)
c.6525G>T (p.Met2175Ile)
n.775G>T
c.4131G>T (p.Met1377Ile)
c.6744G>T (p.Met2248Ile)
c.4554G>T (p.Met1518Ile)
c.4230G>T (p.Met1410Ile)
11g.118502541A>CCA477093510KMT2Ac.6748A>C (p.Arg2250=)
c.6739A>C (p.Arg2247=)
c.688A>C (p.Arg230=)
c.946A>C (p.Arg316=)
c.6721A>C (p.Arg2241=)
c.6640A>C (p.Arg2214=)
n.5991A>C
c.6649A>C (p.Arg2217=)
c.6526A>C (p.Arg2176=)
n.776A>C
c.4132A>C (p.Arg1378=)
c.6745A>C (p.Arg2249=)
c.4555A>C (p.Arg1519=)
c.4231A>C (p.Arg1411=)
11g.118502541A>GCA382802540KMT2Ac.6748A>G (p.Arg2250Gly)
c.6739A>G (p.Arg2247Gly)
c.688A>G (p.Arg230Gly)
c.946A>G (p.Arg316Gly)
c.6721A>G (p.Arg2241Gly)
c.6640A>G (p.Arg2214Gly)
n.5991A>G
c.6649A>G (p.Arg2217Gly)
c.6526A>G (p.Arg2176Gly)
n.776A>G
c.4132A>G (p.Arg1378Gly)
c.6745A>G (p.Arg2249Gly)
c.4555A>G (p.Arg1519Gly)
c.4231A>G (p.Arg1411Gly)
11g.118502541A>TCA382802542KMT2Ac.6748A>T (p.Arg2250Ter)
c.6739A>T (p.Arg2247Ter)
c.688A>T (p.Arg230Ter)
c.946A>T (p.Arg316Ter)
c.6721A>T (p.Arg2241Ter)
c.6640A>T (p.Arg2214Ter)
n.5991A>T
c.6649A>T (p.Arg2217Ter)
c.6526A>T (p.Arg2176Ter)
n.776A>T
c.4132A>T (p.Arg1378Ter)
c.6745A>T (p.Arg2249Ter)
c.4555A>T (p.Arg1519Ter)
c.4231A>T (p.Arg1411Ter)
11g.118502542G>ACA6304290KMT2Ac.6749G>A (p.Arg2250Lys)
c.6740G>A (p.Arg2247Lys)
c.689G>A (p.Arg230Lys)
c.947G>A (p.Arg316Lys)
c.6722G>A (p.Arg2241Lys)
c.6641G>A (p.Arg2214Lys)
n.5992G>A
c.6650G>A (p.Arg2217Lys)
c.6527G>A (p.Arg2176Lys)
n.777G>A
c.4133G>A (p.Arg1378Lys)
c.6746G>A (p.Arg2249Lys)
c.4556G>A (p.Arg1519Lys)
c.4232G>A (p.Arg1411Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502542G>CCA382802544KMT2Ac.6749G>C (p.Arg2250Thr)
c.6740G>C (p.Arg2247Thr)
c.689G>C (p.Arg230Thr)
c.947G>C (p.Arg316Thr)
c.6722G>C (p.Arg2241Thr)
c.6641G>C (p.Arg2214Thr)
n.5992G>C
c.6650G>C (p.Arg2217Thr)
c.6527G>C (p.Arg2176Thr)
n.777G>C
c.4133G>C (p.Arg1378Thr)
c.6746G>C (p.Arg2249Thr)
c.4556G>C (p.Arg1519Thr)
c.4232G>C (p.Arg1411Thr)
11g.118502542G=CA2003526406KMT2Ac.6749G= (p.Arg2250=)
c.6740G= (p.Arg2247=)
c.689G= (p.Arg230=)
c.947G= (p.Arg316=)
c.6722G= (p.Arg2241=)
c.6641G= (p.Arg2214=)
n.5992G=
c.6650G= (p.Arg2217=)
c.6527G= (p.Arg2176=)
n.777G=
c.4133G= (p.Arg1378=)
c.6746G= (p.Arg2249=)
c.4556G= (p.Arg1519=)
c.4232G= (p.Arg1411=)
11g.118502542G>TCA382802546KMT2Ac.6749G>T (p.Arg2250Ile)
c.6740G>T (p.Arg2247Ile)
c.689G>T (p.Arg230Ile)
c.947G>T (p.Arg316Ile)
c.6722G>T (p.Arg2241Ile)
c.6641G>T (p.Arg2214Ile)
n.5992G>T
c.6650G>T (p.Arg2217Ile)
c.6527G>T (p.Arg2176Ile)
n.777G>T
c.4133G>T (p.Arg1378Ile)
c.6746G>T (p.Arg2249Ile)
c.4556G>T (p.Arg1519Ile)
c.4232G>T (p.Arg1411Ile)
11g.118502543A>CCA382802548KMT2Ac.6750A>C (p.Arg2250Ser)
c.6741A>C (p.Arg2247Ser)
c.690A>C (p.Arg230Ser)
c.948A>C (p.Arg316Ser)
c.6723A>C (p.Arg2241Ser)
c.6642A>C (p.Arg2214Ser)
n.5993A>C
c.6651A>C (p.Arg2217Ser)
c.6528A>C (p.Arg2176Ser)
n.778A>C
c.4134A>C (p.Arg1378Ser)
c.6747A>C (p.Arg2249Ser)
c.4557A>C (p.Arg1519Ser)
c.4233A>C (p.Arg1411Ser)
11g.118502543A>GCA477093511KMT2Ac.6750A>G (p.Arg2250=)
c.6741A>G (p.Arg2247=)
c.690A>G (p.Arg230=)
c.948A>G (p.Arg316=)
c.6723A>G (p.Arg2241=)
c.6642A>G (p.Arg2214=)
n.5993A>G
c.6651A>G (p.Arg2217=)
c.6528A>G (p.Arg2176=)
n.778A>G
c.4134A>G (p.Arg1378=)
c.6747A>G (p.Arg2249=)
c.4557A>G (p.Arg1519=)
c.4233A>G (p.Arg1411=)
11g.118502543A>TCA382802550KMT2Ac.6750A>T (p.Arg2250Ser)
c.6741A>T (p.Arg2247Ser)
c.690A>T (p.Arg230Ser)
c.948A>T (p.Arg316Ser)
c.6723A>T (p.Arg2241Ser)
c.6642A>T (p.Arg2214Ser)
n.5993A>T
c.6651A>T (p.Arg2217Ser)
c.6528A>T (p.Arg2176Ser)
n.778A>T
c.4134A>T (p.Arg1378Ser)
c.6747A>T (p.Arg2249Ser)
c.4557A>T (p.Arg1519Ser)
c.4233A>T (p.Arg1411Ser)
11g.118502544A>CCA382802551KMT2Ac.6751A>C (p.Thr2251Pro)
c.6742A>C (p.Thr2248Pro)
c.691A>C (p.Thr231Pro)
c.949A>C (p.Thr317Pro)
c.6724A>C (p.Thr2242Pro)
c.6643A>C (p.Thr2215Pro)
n.5994A>C
c.6652A>C (p.Thr2218Pro)
c.6529A>C (p.Thr2177Pro)
n.779A>C
c.4135A>C (p.Thr1379Pro)
c.6748A>C (p.Thr2250Pro)
c.4558A>C (p.Thr1520Pro)
c.4234A>C (p.Thr1412Pro)
11g.118502544A>GCA382802553KMT2Ac.6751A>G (p.Thr2251Ala)
c.6742A>G (p.Thr2248Ala)
c.691A>G (p.Thr231Ala)
c.949A>G (p.Thr317Ala)
c.6724A>G (p.Thr2242Ala)
c.6643A>G (p.Thr2215Ala)
n.5994A>G
c.6652A>G (p.Thr2218Ala)
c.6529A>G (p.Thr2177Ala)
n.779A>G
c.4135A>G (p.Thr1379Ala)
c.6748A>G (p.Thr2250Ala)
c.4558A>G (p.Thr1520Ala)
c.4234A>G (p.Thr1412Ala)
11g.118502544A>TCA382802555KMT2Ac.6751A>T (p.Thr2251Ser)
c.6742A>T (p.Thr2248Ser)
c.691A>T (p.Thr231Ser)
c.949A>T (p.Thr317Ser)
c.6724A>T (p.Thr2242Ser)
c.6643A>T (p.Thr2215Ser)
n.5994A>T
c.6652A>T (p.Thr2218Ser)
c.6529A>T (p.Thr2177Ser)
n.779A>T
c.4135A>T (p.Thr1379Ser)
c.6748A>T (p.Thr2250Ser)
c.4558A>T (p.Thr1520Ser)
c.4234A>T (p.Thr1412Ser)
11g.118502545C>ACA6304291KMT2Ac.6752C>A (p.Thr2251Asn)
c.6743C>A (p.Thr2248Asn)
c.692C>A (p.Thr231Asn)
c.950C>A (p.Thr317Asn)
c.6725C>A (p.Thr2242Asn)
c.6644C>A (p.Thr2215Asn)
n.5995C>A
c.6653C>A (p.Thr2218Asn)
c.6530C>A (p.Thr2177Asn)
n.780C>A
c.4136C>A (p.Thr1379Asn)
c.6749C>A (p.Thr2250Asn)
c.4559C>A (p.Thr1520Asn)
c.4235C>A (p.Thr1412Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502545C=CA2003526409KMT2Ac.6752C= (p.Thr2251=)
c.6743C= (p.Thr2248=)
c.692C= (p.Thr231=)
c.950C= (p.Thr317=)
c.6725C= (p.Thr2242=)
c.6644C= (p.Thr2215=)
n.5995C=
c.6653C= (p.Thr2218=)
c.6530C= (p.Thr2177=)
n.780C=
c.4136C= (p.Thr1379=)
c.6749C= (p.Thr2250=)
c.4559C= (p.Thr1520=)
c.4235C= (p.Thr1412=)
11g.118502545C>GCA382802556KMT2Ac.6752C>G (p.Thr2251Ser)
c.6743C>G (p.Thr2248Ser)
c.692C>G (p.Thr231Ser)
c.950C>G (p.Thr317Ser)
c.6725C>G (p.Thr2242Ser)
c.6644C>G (p.Thr2215Ser)
n.5995C>G
c.6653C>G (p.Thr2218Ser)
c.6530C>G (p.Thr2177Ser)
n.780C>G
c.4136C>G (p.Thr1379Ser)
c.6749C>G (p.Thr2250Ser)
c.4559C>G (p.Thr1520Ser)
c.4235C>G (p.Thr1412Ser)
 dbSNP
11g.118502545C>TCA382802558KMT2Ac.6752C>T (p.Thr2251Ile)
c.6743C>T (p.Thr2248Ile)
c.692C>T (p.Thr231Ile)
c.950C>T (p.Thr317Ile)
c.6725C>T (p.Thr2242Ile)
c.6644C>T (p.Thr2215Ile)
n.5995C>T
c.6653C>T (p.Thr2218Ile)
c.6530C>T (p.Thr2177Ile)
n.780C>T
c.4136C>T (p.Thr1379Ile)
c.6749C>T (p.Thr2250Ile)
c.4559C>T (p.Thr1520Ile)
c.4235C>T (p.Thr1412Ile)
 gnomAD v4
11g.118502546T>ACA477093514KMT2Ac.6753T>A (p.Thr2251=)
c.6744T>A (p.Thr2248=)
c.693T>A (p.Thr231=)
c.951T>A (p.Thr317=)
c.6726T>A (p.Thr2242=)
c.6645T>A (p.Thr2215=)
n.5996T>A
c.6654T>A (p.Thr2218=)
c.6531T>A (p.Thr2177=)
n.781T>A
c.4137T>A (p.Thr1379=)
c.6750T>A (p.Thr2250=)
c.4560T>A (p.Thr1520=)
c.4236T>A (p.Thr1412=)
11g.118502546T>CCA477093512KMT2Ac.6753T>C (p.Thr2251=)
c.6744T>C (p.Thr2248=)
c.693T>C (p.Thr231=)
c.951T>C (p.Thr317=)
c.6726T>C (p.Thr2242=)
c.6645T>C (p.Thr2215=)
n.5996T>C
c.6654T>C (p.Thr2218=)
c.6531T>C (p.Thr2177=)
n.781T>C
c.4137T>C (p.Thr1379=)
c.6750T>C (p.Thr2250=)
c.4560T>C (p.Thr1520=)
c.4236T>C (p.Thr1412=)
 gnomAD v4
11g.118502546T>GCA477093513KMT2Ac.6753T>G (p.Thr2251=)
c.6744T>G (p.Thr2248=)
c.693T>G (p.Thr231=)
c.951T>G (p.Thr317=)
c.6726T>G (p.Thr2242=)
c.6645T>G (p.Thr2215=)
n.5996T>G
c.6654T>G (p.Thr2218=)
c.6531T>G (p.Thr2177=)
n.781T>G
c.4137T>G (p.Thr1379=)
c.6750T>G (p.Thr2250=)
c.4560T>G (p.Thr1520=)
c.4236T>G (p.Thr1412=)
11g.118502547G>ACA382802562KMT2Ac.6754G>A (p.Gly2252Arg)
c.6745G>A (p.Gly2249Arg)
c.694G>A (p.Gly232Arg)
c.952G>A (p.Gly318Arg)
c.6727G>A (p.Gly2243Arg)
c.6646G>A (p.Gly2216Arg)
n.5997G>A
c.6655G>A (p.Gly2219Arg)
c.6532G>A (p.Gly2178Arg)
n.782G>A
c.4138G>A (p.Gly1380Arg)
c.6751G>A (p.Gly2251Arg)
c.4561G>A (p.Gly1521Arg)
c.4237G>A (p.Gly1413Arg)
 dbSNP gnomAD v4
11g.118502547G>CCA382802563KMT2Ac.6754G>C (p.Gly2252Arg)
c.6745G>C (p.Gly2249Arg)
c.694G>C (p.Gly232Arg)
c.952G>C (p.Gly318Arg)
c.6727G>C (p.Gly2243Arg)
c.6646G>C (p.Gly2216Arg)
n.5997G>C
c.6655G>C (p.Gly2219Arg)
c.6532G>C (p.Gly2178Arg)
n.782G>C
c.4138G>C (p.Gly1380Arg)
c.6751G>C (p.Gly2251Arg)
c.4561G>C (p.Gly1521Arg)
c.4237G>C (p.Gly1413Arg)
 gnomAD v4
11g.118502547G>TCA382802561KMT2Ac.6754G>T (p.Gly2252Trp)
c.6745G>T (p.Gly2249Trp)
c.694G>T (p.Gly232Trp)
c.952G>T (p.Gly318Trp)
c.6727G>T (p.Gly2243Trp)
c.6646G>T (p.Gly2216Trp)
n.5997G>T
c.6655G>T (p.Gly2219Trp)
c.6532G>T (p.Gly2178Trp)
n.782G>T
c.4138G>T (p.Gly1380Trp)
c.6751G>T (p.Gly2251Trp)
c.4561G>T (p.Gly1521Trp)
c.4237G>T (p.Gly1413Trp)
11g.118502548G>ACA382802567KMT2Ac.6755G>A (p.Gly2252Glu)
c.6746G>A (p.Gly2249Glu)
c.695G>A (p.Gly232Glu)
c.953G>A (p.Gly318Glu)
c.6728G>A (p.Gly2243Glu)
c.6647G>A (p.Gly2216Glu)
n.5998G>A
c.6656G>A (p.Gly2219Glu)
c.6533G>A (p.Gly2178Glu)
n.783G>A
c.4139G>A (p.Gly1380Glu)
c.6752G>A (p.Gly2251Glu)
c.4562G>A (p.Gly1521Glu)
c.4238G>A (p.Gly1413Glu)
 dbSNP
11g.118502548G>CCA382802566KMT2Ac.6755G>C (p.Gly2252Ala)
c.6746G>C (p.Gly2249Ala)
c.695G>C (p.Gly232Ala)
c.953G>C (p.Gly318Ala)
c.6728G>C (p.Gly2243Ala)
c.6647G>C (p.Gly2216Ala)
n.5998G>C
c.6656G>C (p.Gly2219Ala)
c.6533G>C (p.Gly2178Ala)
n.783G>C
c.4139G>C (p.Gly1380Ala)
c.6752G>C (p.Gly2251Ala)
c.4562G>C (p.Gly1521Ala)
c.4238G>C (p.Gly1413Ala)
11g.118502548G>TCA382802568KMT2Ac.6755G>T (p.Gly2252Val)
c.6746G>T (p.Gly2249Val)
c.695G>T (p.Gly232Val)
c.953G>T (p.Gly318Val)
c.6728G>T (p.Gly2243Val)
c.6647G>T (p.Gly2216Val)
n.5998G>T
c.6656G>T (p.Gly2219Val)
c.6533G>T (p.Gly2178Val)
n.783G>T
c.4139G>T (p.Gly1380Val)
c.6752G>T (p.Gly2251Val)
c.4562G>T (p.Gly1521Val)
c.4238G>T (p.Gly1413Val)
11g.118502549G>ACA6304292KMT2Ac.6756G>A (p.Gly2252=)
c.6747G>A (p.Gly2249=)
c.696G>A (p.Gly232=)
c.954G>A (p.Gly318=)
c.6729G>A (p.Gly2243=)
c.6648G>A (p.Gly2216=)
n.5999G>A
c.6657G>A (p.Gly2219=)
c.6534G>A (p.Gly2178=)
n.784G>A
c.4140G>A (p.Gly1380=)
c.6753G>A (p.Gly2251=)
c.4563G>A (p.Gly1521=)
c.4239G>A (p.Gly1413=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118502549G>CCA477093516KMT2Ac.6756G>C (p.Gly2252=)
c.6747G>C (p.Gly2249=)
c.696G>C (p.Gly232=)
c.954G>C (p.Gly318=)
c.6729G>C (p.Gly2243=)
c.6648G>C (p.Gly2216=)
n.5999G>C
c.6657G>C (p.Gly2219=)
c.6534G>C (p.Gly2178=)
n.784G>C
c.4140G>C (p.Gly1380=)
c.6753G>C (p.Gly2251=)
c.4563G>C (p.Gly1521=)
c.4239G>C (p.Gly1413=)
11g.118502549G=CA2003526414KMT2Ac.6756G= (p.Gly2252=)
c.6747G= (p.Gly2249=)
c.696G= (p.Gly232=)
c.954G= (p.Gly318=)
c.6729G= (p.Gly2243=)
c.6648G= (p.Gly2216=)
n.5999G=
c.6657G= (p.Gly2219=)
c.6534G= (p.Gly2178=)
n.784G=
c.4140G= (p.Gly1380=)
c.6753G= (p.Gly2251=)
c.4563G= (p.Gly1521=)
c.4239G= (p.Gly1413=)
11g.118502549G>TCA477093517KMT2Ac.6756G>T (p.Gly2252=)
c.6747G>T (p.Gly2249=)
c.696G>T (p.Gly232=)
c.954G>T (p.Gly318=)
c.6729G>T (p.Gly2243=)
c.6648G>T (p.Gly2216=)
n.5999G>T
c.6657G>T (p.Gly2219=)
c.6534G>T (p.Gly2178=)
n.784G>T
c.4140G>T (p.Gly1380=)
c.6753G>T (p.Gly2251=)
c.4563G>T (p.Gly1521=)
c.4239G>T (p.Gly1413=)
 gnomAD v4
11g.118502550A=CA2003526418KMT2Ac.6757A= (p.Asn2253=)
c.6748A= (p.Asn2250=)
c.697A= (p.Asn233=)
c.955A= (p.Asn319=)
c.6730A= (p.Asn2244=)
c.6649A= (p.Asn2217=)
n.6000A=
c.6658A= (p.Asn2220=)
c.6535A= (p.Asn2179=)
n.785A=
c.4141A= (p.Asn1381=)
c.6754A= (p.Asn2252=)
c.4564A= (p.Asn1522=)
c.4240A= (p.Asn1414=)
11g.118502550A>CCA382802575KMT2Ac.6757A>C (p.Asn2253His)
c.6748A>C (p.Asn2250His)
c.697A>C (p.Asn233His)
c.955A>C (p.Asn319His)
c.6730A>C (p.Asn2244His)
c.6649A>C (p.Asn2217His)
n.6000A>C
c.6658A>C (p.Asn2220His)
c.6535A>C (p.Asn2179His)
n.785A>C
c.4141A>C (p.Asn1381His)
c.6754A>C (p.Asn2252His)
c.4564A>C (p.Asn1522His)
c.4240A>C (p.Asn1414His)
 dbSNP gnomAD v3 gnomAD v4
11g.118502550A>GCA382802571KMT2Ac.6757A>G (p.Asn2253Asp)
c.6748A>G (p.Asn2250Asp)
c.697A>G (p.Asn233Asp)
c.955A>G (p.Asn319Asp)
c.6730A>G (p.Asn2244Asp)
c.6649A>G (p.Asn2217Asp)
n.6000A>G
c.6658A>G (p.Asn2220Asp)
c.6535A>G (p.Asn2179Asp)
n.785A>G
c.4141A>G (p.Asn1381Asp)
c.6754A>G (p.Asn2252Asp)
c.4564A>G (p.Asn1522Asp)
c.4240A>G (p.Asn1414Asp)
11g.118502550A>TCA382802573KMT2Ac.6757A>T (p.Asn2253Tyr)
c.6748A>T (p.Asn2250Tyr)
c.697A>T (p.Asn233Tyr)
c.955A>T (p.Asn319Tyr)
c.6730A>T (p.Asn2244Tyr)
c.6649A>T (p.Asn2217Tyr)
n.6000A>T
c.6658A>T (p.Asn2220Tyr)
c.6535A>T (p.Asn2179Tyr)
n.785A>T
c.4141A>T (p.Asn1381Tyr)
c.6754A>T (p.Asn2252Tyr)
c.4564A>T (p.Asn1522Tyr)
c.4240A>T (p.Asn1414Tyr)
11g.118502551A>CCA382802576KMT2Ac.6758A>C (p.Asn2253Thr)
c.6749A>C (p.Asn2250Thr)
c.698A>C (p.Asn233Thr)
c.956A>C (p.Asn319Thr)
c.6731A>C (p.Asn2244Thr)
c.6650A>C (p.Asn2217Thr)
n.6001A>C
c.6659A>C (p.Asn2220Thr)
c.6536A>C (p.Asn2179Thr)
n.786A>C
c.4142A>C (p.Asn1381Thr)
c.6755A>C (p.Asn2252Thr)
c.4565A>C (p.Asn1522Thr)
c.4241A>C (p.Asn1414Thr)
11g.118502551A>GCA382802578KMT2Ac.6758A>G (p.Asn2253Ser)
c.6749A>G (p.Asn2250Ser)
c.698A>G (p.Asn233Ser)
c.956A>G (p.Asn319Ser)
c.6731A>G (p.Asn2244Ser)
c.6650A>G (p.Asn2217Ser)
n.6001A>G
c.6659A>G (p.Asn2220Ser)
c.6536A>G (p.Asn2179Ser)
n.786A>G
c.4142A>G (p.Asn1381Ser)
c.6755A>G (p.Asn2252Ser)
c.4565A>G (p.Asn1522Ser)
c.4241A>G (p.Asn1414Ser)
11g.118502551A>TCA382802580KMT2Ac.6758A>T (p.Asn2253Ile)
c.6749A>T (p.Asn2250Ile)
c.698A>T (p.Asn233Ile)
c.956A>T (p.Asn319Ile)
c.6731A>T (p.Asn2244Ile)
c.6650A>T (p.Asn2217Ile)
n.6001A>T
c.6659A>T (p.Asn2220Ile)
c.6536A>T (p.Asn2179Ile)
n.786A>T
c.4142A>T (p.Asn1381Ile)
c.6755A>T (p.Asn2252Ile)
c.4565A>T (p.Asn1522Ile)
c.4241A>T (p.Asn1414Ile)
11g.118502552T>ACA382802581KMT2Ac.6759T>A (p.Asn2253Lys)
c.6750T>A (p.Asn2250Lys)
c.699T>A (p.Asn233Lys)
c.957T>A (p.Asn319Lys)
c.6732T>A (p.Asn2244Lys)
c.6651T>A (p.Asn2217Lys)
n.6002T>A
c.6660T>A (p.Asn2220Lys)
c.6537T>A (p.Asn2179Lys)
n.787T>A
c.4143T>A (p.Asn1381Lys)
c.6756T>A (p.Asn2252Lys)
c.4566T>A (p.Asn1522Lys)
c.4242T>A (p.Asn1414Lys)
11g.118502552T>CCA477093518KMT2Ac.6759T>C (p.Asn2253=)
c.6750T>C (p.Asn2250=)
c.699T>C (p.Asn233=)
c.957T>C (p.Asn319=)
c.6732T>C (p.Asn2244=)
c.6651T>C (p.Asn2217=)
n.6002T>C
c.6660T>C (p.Asn2220=)
c.6537T>C (p.Asn2179=)
n.787T>C
c.4143T>C (p.Asn1381=)
c.6756T>C (p.Asn2252=)
c.4566T>C (p.Asn1522=)
c.4242T>C (p.Asn1414=)
 dbSNP gnomAD v4
11g.118502552T>GCA382802583KMT2Ac.6759T>G (p.Asn2253Lys)
c.6750T>G (p.Asn2250Lys)
c.699T>G (p.Asn233Lys)
c.957T>G (p.Asn319Lys)
c.6732T>G (p.Asn2244Lys)
c.6651T>G (p.Asn2217Lys)
n.6002T>G
c.6660T>G (p.Asn2220Lys)
c.6537T>G (p.Asn2179Lys)
n.787T>G
c.4143T>G (p.Asn1381Lys)
c.6756T>G (p.Asn2252Lys)
c.4566T>G (p.Asn1522Lys)
c.4242T>G (p.Asn1414Lys)
11g.118502553A>CCA382802585KMT2Ac.6760A>C (p.Thr2254Pro)
c.6751A>C (p.Thr2251Pro)
c.700A>C (p.Thr234Pro)
c.958A>C (p.Thr320Pro)
c.6733A>C (p.Thr2245Pro)
c.6652A>C (p.Thr2218Pro)
n.6003A>C
c.6661A>C (p.Thr2221Pro)
c.6538A>C (p.Thr2180Pro)
n.788A>C
c.4144A>C (p.Thr1382Pro)
c.6757A>C (p.Thr2253Pro)
c.4567A>C (p.Thr1523Pro)
c.4243A>C (p.Thr1415Pro)
11g.118502553A>GCA382802587KMT2Ac.6760A>G (p.Thr2254Ala)
c.6751A>G (p.Thr2251Ala)
c.700A>G (p.Thr234Ala)
c.958A>G (p.Thr320Ala)
c.6733A>G (p.Thr2245Ala)
c.6652A>G (p.Thr2218Ala)
n.6003A>G
c.6661A>G (p.Thr2221Ala)
c.6538A>G (p.Thr2180Ala)
n.788A>G
c.4144A>G (p.Thr1382Ala)
c.6757A>G (p.Thr2253Ala)
c.4567A>G (p.Thr1523Ala)
c.4243A>G (p.Thr1415Ala)
11g.118502553A>TCA382802588KMT2Ac.6760A>T (p.Thr2254Ser)
c.6751A>T (p.Thr2251Ser)
c.700A>T (p.Thr234Ser)
c.958A>T (p.Thr320Ser)
c.6733A>T (p.Thr2245Ser)
c.6652A>T (p.Thr2218Ser)
n.6003A>T
c.6661A>T (p.Thr2221Ser)
c.6538A>T (p.Thr2180Ser)
n.788A>T
c.4144A>T (p.Thr1382Ser)
c.6757A>T (p.Thr2253Ser)
c.4567A>T (p.Thr1523Ser)
c.4243A>T (p.Thr1415Ser)
 dbSNP
11g.118502554C>ACA382802591KMT2Ac.6761C>A (p.Thr2254Asn)
c.6752C>A (p.Thr2251Asn)
c.701C>A (p.Thr234Asn)
c.959C>A (p.Thr320Asn)
c.6734C>A (p.Thr2245Asn)
c.6653C>A (p.Thr2218Asn)
n.6004C>A
c.6662C>A (p.Thr2221Asn)
c.6539C>A (p.Thr2180Asn)
n.789C>A
c.4145C>A (p.Thr1382Asn)
c.6758C>A (p.Thr2253Asn)
c.4568C>A (p.Thr1523Asn)
c.4244C>A (p.Thr1415Asn)
11g.118502554C>GCA382802593KMT2Ac.6761C>G (p.Thr2254Ser)
c.6752C>G (p.Thr2251Ser)
c.701C>G (p.Thr234Ser)
c.959C>G (p.Thr320Ser)
c.6734C>G (p.Thr2245Ser)
c.6653C>G (p.Thr2218Ser)
n.6004C>G
c.6662C>G (p.Thr2221Ser)
c.6539C>G (p.Thr2180Ser)
n.789C>G
c.4145C>G (p.Thr1382Ser)
c.6758C>G (p.Thr2253Ser)
c.4568C>G (p.Thr1523Ser)
c.4244C>G (p.Thr1415Ser)
 ClinVar
11g.118502554C>TCA382802594KMT2Ac.6761C>T (p.Thr2254Ile)
c.6752C>T (p.Thr2251Ile)
c.701C>T (p.Thr234Ile)
c.959C>T (p.Thr320Ile)
c.6734C>T (p.Thr2245Ile)
c.6653C>T (p.Thr2218Ile)
n.6004C>T
c.6662C>T (p.Thr2221Ile)
c.6539C>T (p.Thr2180Ile)
n.789C>T
c.4145C>T (p.Thr1382Ile)
c.6758C>T (p.Thr2253Ile)
c.4568C>T (p.Thr1523Ile)
c.4244C>T (p.Thr1415Ile)
11g.118502555T>ACA477093519KMT2Ac.6762T>A (p.Thr2254=)
c.6753T>A (p.Thr2251=)
c.702T>A (p.Thr234=)
c.960T>A (p.Thr320=)
c.6735T>A (p.Thr2245=)
c.6654T>A (p.Thr2218=)
n.6005T>A
c.6663T>A (p.Thr2221=)
c.6540T>A (p.Thr2180=)
n.790T>A
c.4146T>A (p.Thr1382=)
c.6759T>A (p.Thr2253=)
c.4569T>A (p.Thr1523=)
c.4245T>A (p.Thr1415=)
11g.118502555T>CCA477093520KMT2Ac.6762T>C (p.Thr2254=)
c.6753T>C (p.Thr2251=)
c.702T>C (p.Thr234=)
c.960T>C (p.Thr320=)
c.6735T>C (p.Thr2245=)
c.6654T>C (p.Thr2218=)
n.6005T>C
c.6663T>C (p.Thr2221=)
c.6540T>C (p.Thr2180=)
n.790T>C
c.4146T>C (p.Thr1382=)
c.6759T>C (p.Thr2253=)
c.4569T>C (p.Thr1523=)
c.4245T>C (p.Thr1415=)
11g.118502555T>GCA477093521KMT2Ac.6762T>G (p.Thr2254=)
c.6753T>G (p.Thr2251=)
c.702T>G (p.Thr234=)
c.960T>G (p.Thr320=)
c.6735T>G (p.Thr2245=)
c.6654T>G (p.Thr2218=)
n.6005T>G
c.6663T>G (p.Thr2221=)
c.6540T>G (p.Thr2180=)
n.790T>G
c.4146T>G (p.Thr1382=)
c.6759T>G (p.Thr2253=)
c.4569T>G (p.Thr1523=)
c.4245T>G (p.Thr1415=)
11g.118502556T>ACA382802596KMT2Ac.6763T>A (p.Tyr2255Asn)
c.6754T>A (p.Tyr2252Asn)
c.703T>A (p.Tyr235Asn)
c.961T>A (p.Tyr321Asn)
c.6736T>A (p.Tyr2246Asn)
c.6655T>A (p.Tyr2219Asn)
n.6006T>A
c.6664T>A (p.Tyr2222Asn)
c.6541T>A (p.Tyr2181Asn)
n.791T>A
c.4147T>A (p.Tyr1383Asn)
c.6760T>A (p.Tyr2254Asn)
c.4570T>A (p.Tyr1524Asn)
c.4246T>A (p.Tyr1416Asn)
11g.118502556T>CCA382802600KMT2Ac.6763T>C (p.Tyr2255His)
c.6754T>C (p.Tyr2252His)
c.703T>C (p.Tyr235His)
c.961T>C (p.Tyr321His)
c.6736T>C (p.Tyr2246His)
c.6655T>C (p.Tyr2219His)
n.6006T>C
c.6664T>C (p.Tyr2222His)
c.6541T>C (p.Tyr2181His)
n.791T>C
c.4147T>C (p.Tyr1383His)
c.6760T>C (p.Tyr2254His)
c.4570T>C (p.Tyr1524His)
c.4246T>C (p.Tyr1416His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118502556T>GCA382802598KMT2Ac.6763T>G (p.Tyr2255Asp)
c.6754T>G (p.Tyr2252Asp)
c.703T>G (p.Tyr235Asp)
c.961T>G (p.Tyr321Asp)
c.6736T>G (p.Tyr2246Asp)
c.6655T>G (p.Tyr2219Asp)
n.6006T>G
c.6664T>G (p.Tyr2222Asp)
c.6541T>G (p.Tyr2181Asp)
n.791T>G
c.4147T>G (p.Tyr1383Asp)
c.6760T>G (p.Tyr2254Asp)
c.4570T>G (p.Tyr1524Asp)
c.4246T>G (p.Tyr1416Asp)
11g.118502556T=CA2003526422KMT2Ac.6763T= (p.Tyr2255=)
c.6754T= (p.Tyr2252=)
c.703T= (p.Tyr235=)
c.961T= (p.Tyr321=)
c.6736T= (p.Tyr2246=)
c.6655T= (p.Tyr2219=)
n.6006T=
c.6664T= (p.Tyr2222=)
c.6541T= (p.Tyr2181=)
n.791T=
c.4147T= (p.Tyr1383=)
c.6760T= (p.Tyr2254=)
c.4570T= (p.Tyr1524=)
c.4246T= (p.Tyr1416=)
11g.118502557A>CCA382802601KMT2Ac.6764A>C (p.Tyr2255Ser)
c.6755A>C (p.Tyr2252Ser)
c.704A>C (p.Tyr235Ser)
c.962A>C (p.Tyr321Ser)
c.6737A>C (p.Tyr2246Ser)
c.6656A>C (p.Tyr2219Ser)
n.6007A>C
c.6665A>C (p.Tyr2222Ser)
c.6542A>C (p.Tyr2181Ser)
n.792A>C
c.4148A>C (p.Tyr1383Ser)
c.6761A>C (p.Tyr2254Ser)
c.4571A>C (p.Tyr1524Ser)
c.4247A>C (p.Tyr1416Ser)
11g.118502557A>GCA382802603KMT2Ac.6764A>G (p.Tyr2255Cys)
c.6755A>G (p.Tyr2252Cys)
c.704A>G (p.Tyr235Cys)
c.962A>G (p.Tyr321Cys)
c.6737A>G (p.Tyr2246Cys)
c.6656A>G (p.Tyr2219Cys)
n.6007A>G
c.6665A>G (p.Tyr2222Cys)
c.6542A>G (p.Tyr2181Cys)
n.792A>G
c.4148A>G (p.Tyr1383Cys)
c.6761A>G (p.Tyr2254Cys)
c.4571A>G (p.Tyr1524Cys)
c.4247A>G (p.Tyr1416Cys)
11g.118502557A>TCA382802605KMT2Ac.6764A>T (p.Tyr2255Phe)
c.6755A>T (p.Tyr2252Phe)
c.704A>T (p.Tyr235Phe)
c.962A>T (p.Tyr321Phe)
c.6737A>T (p.Tyr2246Phe)
c.6656A>T (p.Tyr2219Phe)
n.6007A>T
c.6665A>T (p.Tyr2222Phe)
c.6542A>T (p.Tyr2181Phe)
n.792A>T
c.4148A>T (p.Tyr1383Phe)
c.6761A>T (p.Tyr2254Phe)
c.4571A>T (p.Tyr1524Phe)
c.4247A>T (p.Tyr1416Phe)
11g.118502557dupCA2695215543KMT2Ac.6764dup (p.Tyr2255Ter)
c.6755dup (p.Tyr2252Ter)
c.704dup (p.Tyr235Ter)
c.962dup (p.Tyr321Ter)
c.6737dup (p.Tyr2246Ter)
c.6656dup (p.Tyr2219Ter)
n.6007dup
c.6665dup (p.Tyr2222Ter)
c.6542dup (p.Tyr2181Ter)
n.792dup
c.4148dup (p.Tyr1383Ter)
c.6761dup (p.Tyr2254Ter)
c.4571dup (p.Tyr1524Ter)
c.4247dup (p.Tyr1416Ter)
11g.118502558C>ACA382802606KMT2Ac.6765C>A (p.Tyr2255Ter)
c.6756C>A (p.Tyr2252Ter)
c.705C>A (p.Tyr235Ter)
c.963C>A (p.Tyr321Ter)
c.6738C>A (p.Tyr2246Ter)
c.6657C>A (p.Tyr2219Ter)
n.6008C>A
c.6666C>A (p.Tyr2222Ter)
c.6543C>A (p.Tyr2181Ter)
n.793C>A
c.4149C>A (p.Tyr1383Ter)
c.6762C>A (p.Tyr2254Ter)
c.4572C>A (p.Tyr1524Ter)
c.4248C>A (p.Tyr1416Ter)
11g.118502558C=CA2003526425KMT2Ac.6765C= (p.Tyr2255=)
c.6756C= (p.Tyr2252=)
c.705C= (p.Tyr235=)
c.963C= (p.Tyr321=)
c.6738C= (p.Tyr2246=)
c.6657C= (p.Tyr2219=)
n.6008C=
c.6666C= (p.Tyr2222=)
c.6543C= (p.Tyr2181=)
n.793C=
c.4149C= (p.Tyr1383=)
c.6762C= (p.Tyr2254=)
c.4572C= (p.Tyr1524=)
c.4248C= (p.Tyr1416=)
11g.118502558C>GCA382802608KMT2Ac.6765C>G (p.Tyr2255Ter)
c.6756C>G (p.Tyr2252Ter)
c.705C>G (p.Tyr235Ter)
c.963C>G (p.Tyr321Ter)
c.6738C>G (p.Tyr2246Ter)
c.6657C>G (p.Tyr2219Ter)
n.6008C>G
c.6666C>G (p.Tyr2222Ter)
c.6543C>G (p.Tyr2181Ter)
n.793C>G
c.4149C>G (p.Tyr1383Ter)
c.6762C>G (p.Tyr2254Ter)
c.4572C>G (p.Tyr1524Ter)
c.4248C>G (p.Tyr1416Ter)
11g.118502558C>TCA6304293KMT2Ac.6765C>T (p.Tyr2255=)
c.6756C>T (p.Tyr2252=)
c.705C>T (p.Tyr235=)
c.963C>T (p.Tyr321=)
c.6738C>T (p.Tyr2246=)
c.6657C>T (p.Tyr2219=)
n.6008C>T
c.6666C>T (p.Tyr2222=)
c.6543C>T (p.Tyr2181=)
n.793C>T
c.4149C>T (p.Tyr1383=)
c.6762C>T (p.Tyr2254=)
c.4572C>T (p.Tyr1524=)
c.4248C>T (p.Tyr1416=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502559T>ACA382802610KMT2Ac.6766T>A (p.Ser2256Thr)
c.6757T>A (p.Ser2253Thr)
c.706T>A (p.Ser236Thr)
c.964T>A (p.Ser322Thr)
c.6739T>A (p.Ser2247Thr)
c.6658T>A (p.Ser2220Thr)
n.6009T>A
c.6667T>A (p.Ser2223Thr)
c.6544T>A (p.Ser2182Thr)
n.794T>A
c.4150T>A (p.Ser1384Thr)
c.6763T>A (p.Ser2255Thr)
c.4573T>A (p.Ser1525Thr)
c.4249T>A (p.Ser1417Thr)
11g.118502559T>CCA6304294KMT2Ac.6766T>C (p.Ser2256Pro)
c.6757T>C (p.Ser2253Pro)
c.706T>C (p.Ser236Pro)
c.964T>C (p.Ser322Pro)
c.6739T>C (p.Ser2247Pro)
c.6658T>C (p.Ser2220Pro)
n.6009T>C
c.6667T>C (p.Ser2223Pro)
c.6544T>C (p.Ser2182Pro)
n.794T>C
c.4150T>C (p.Ser1384Pro)
c.6763T>C (p.Ser2255Pro)
c.4573T>C (p.Ser1525Pro)
c.4249T>C (p.Ser1417Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118502559T>GCA382802613KMT2Ac.6766T>G (p.Ser2256Ala)
c.6757T>G (p.Ser2253Ala)
c.706T>G (p.Ser236Ala)
c.964T>G (p.Ser322Ala)
c.6739T>G (p.Ser2247Ala)
c.6658T>G (p.Ser2220Ala)
n.6009T>G
c.6667T>G (p.Ser2223Ala)
c.6544T>G (p.Ser2182Ala)
n.794T>G
c.4150T>G (p.Ser1384Ala)
c.6763T>G (p.Ser2255Ala)
c.4573T>G (p.Ser1525Ala)
c.4249T>G (p.Ser1417Ala)
11g.118502559T=CA2003526429KMT2Ac.6766T= (p.Ser2256=)
c.6757T= (p.Ser2253=)
c.706T= (p.Ser236=)
c.964T= (p.Ser322=)
c.6739T= (p.Ser2247=)
c.6658T= (p.Ser2220=)
n.6009T=
c.6667T= (p.Ser2223=)
c.6544T= (p.Ser2182=)
n.794T=
c.4150T= (p.Ser1384=)
c.6763T= (p.Ser2255=)
c.4573T= (p.Ser1525=)
c.4249T= (p.Ser1417=)
11g.118502560C>ACA382802617KMT2Ac.6767C>A (p.Ser2256Tyr)
c.6758C>A (p.Ser2253Tyr)
c.707C>A (p.Ser236Tyr)
c.965C>A (p.Ser322Tyr)
c.6740C>A (p.Ser2247Tyr)
c.6659C>A (p.Ser2220Tyr)
n.6010C>A
c.6668C>A (p.Ser2223Tyr)
c.6545C>A (p.Ser2182Tyr)
n.795C>A
c.4151C>A (p.Ser1384Tyr)
c.6764C>A (p.Ser2255Tyr)
c.4574C>A (p.Ser1525Tyr)
c.4250C>A (p.Ser1417Tyr)
 gnomAD v4
11g.118502560C>GCA382802616KMT2Ac.6767C>G (p.Ser2256Cys)
c.6758C>G (p.Ser2253Cys)
c.707C>G (p.Ser236Cys)
c.965C>G (p.Ser322Cys)
c.6740C>G (p.Ser2247Cys)
c.6659C>G (p.Ser2220Cys)
n.6010C>G
c.6668C>G (p.Ser2223Cys)
c.6545C>G (p.Ser2182Cys)
n.795C>G
c.4151C>G (p.Ser1384Cys)
c.6764C>G (p.Ser2255Cys)
c.4574C>G (p.Ser1525Cys)
c.4250C>G (p.Ser1417Cys)
11g.118502560C>TCA382802615KMT2Ac.6767C>T (p.Ser2256Phe)
c.6758C>T (p.Ser2253Phe)
c.707C>T (p.Ser236Phe)
c.965C>T (p.Ser322Phe)
c.6740C>T (p.Ser2247Phe)
c.6659C>T (p.Ser2220Phe)
n.6010C>T
c.6668C>T (p.Ser2223Phe)
c.6545C>T (p.Ser2182Phe)
n.795C>T
c.4151C>T (p.Ser1384Phe)
c.6764C>T (p.Ser2255Phe)
c.4574C>T (p.Ser1525Phe)
c.4250C>T (p.Ser1417Phe)
11g.118502561T>ACA477093524KMT2Ac.6768T>A (p.Ser2256=)
c.6759T>A (p.Ser2253=)
c.708T>A (p.Ser236=)
c.966T>A (p.Ser322=)
c.6741T>A (p.Ser2247=)
c.6660T>A (p.Ser2220=)
n.6011T>A
c.6669T>A (p.Ser2223=)
c.6546T>A (p.Ser2182=)
n.796T>A
c.4152T>A (p.Ser1384=)
c.6765T>A (p.Ser2255=)
c.4575T>A (p.Ser1525=)
c.4251T>A (p.Ser1417=)
11g.118502561T>CCA477093522KMT2Ac.6768T>C (p.Ser2256=)
c.6759T>C (p.Ser2253=)
c.708T>C (p.Ser236=)
c.966T>C (p.Ser322=)
c.6741T>C (p.Ser2247=)
c.6660T>C (p.Ser2220=)
n.6011T>C
c.6669T>C (p.Ser2223=)
c.6546T>C (p.Ser2182=)
n.796T>C
c.4152T>C (p.Ser1384=)
c.6765T>C (p.Ser2255=)
c.4575T>C (p.Ser1525=)
c.4251T>C (p.Ser1417=)
11g.118502561T>GCA477093523KMT2Ac.6768T>G (p.Ser2256=)
c.6759T>G (p.Ser2253=)
c.708T>G (p.Ser236=)
c.966T>G (p.Ser322=)
c.6741T>G (p.Ser2247=)
c.6660T>G (p.Ser2220=)
n.6011T>G
c.6669T>G (p.Ser2223=)
c.6546T>G (p.Ser2182=)
n.796T>G
c.4152T>G (p.Ser1384=)
c.6765T>G (p.Ser2255=)
c.4575T>G (p.Ser1525=)
c.4251T>G (p.Ser1417=)

Number of alleles fetched