Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.152148784T>ACA370093035KMT2Cc.1331A>T
n.2275A>T
c.13314A>T (p.Glu4438Asp)
n.2443A>T
n.8335A>T
c.3716A>T
c.10653A>T (p.Glu3551Asp)
n.4773A>T
c.3788A>T
n.1909A>T
n.1859A>T
c.1560A>T (p.Glu520Asp)
c.8040A>T (p.Glu2680Asp)
c.13143A>T (p.Glu4381Asp)
c.8930A>T
c.3785A>T
c.3719A>T
n.7854A>T
c.8043A>T (p.Glu2681Asp)
c.12708A>T (p.Glu4236Asp)
c.3720A>T
n.2158A>T
c.5824A>T
c.2994A>T (p.Glu998Asp)
n.11025A>T
c.*10663A>T (n.*10663A>T)
c.13359A>T (p.Glu4453Asp)
c.13356A>T (p.Glu4452Asp)
c.13194A>T (p.Glu4398Asp)
c.13287A>T (p.Glu4429Asp)
c.13191A>T (p.Glu4397Asp)
c.13311A>T (p.Glu4437Asp)
c.13239A>T (p.Glu4413Asp)
c.13206A>T (p.Glu4402Asp)
c.13122A>T (p.Glu4374Asp)
c.12444A>T (p.Glu4148Asp)
c.10905A>T (p.Glu3635Asp)
c.13326A>T (p.Glu4442Asp)
c.13308A>T (p.Glu4436Asp)
c.13284A>T (p.Glu4428Asp)
c.13212A>T (p.Glu4404Asp)
c.13176A>T (p.Glu4392Asp)
c.10029A>T (p.Glu3343Asp)
c.9633A>T (p.Glu3211Asp)
7g.152148784T>CCA4578664KMT2Cc.1331A>G
n.2275A>G
c.13314A>G (p.Glu4438=)
n.2443A>G
n.8335A>G
c.3716A>G
c.10653A>G (p.Glu3551=)
n.4773A>G
c.3788A>G
n.1909A>G
n.1859A>G
c.1560A>G (p.Glu520=)
c.8040A>G (p.Glu2680=)
c.13143A>G (p.Glu4381=)
c.8930A>G
c.3785A>G
c.3719A>G
n.7854A>G
c.8043A>G (p.Glu2681=)
c.12708A>G (p.Glu4236=)
c.3720A>G
n.2158A>G
c.5824A>G
c.2994A>G (p.Glu998=)
n.11025A>G
c.*10663A>G (n.*10663A>G)
c.13359A>G (p.Glu4453=)
c.13356A>G (p.Glu4452=)
c.13194A>G (p.Glu4398=)
c.13287A>G (p.Glu4429=)
c.13191A>G (p.Glu4397=)
c.13311A>G (p.Glu4437=)
c.13239A>G (p.Glu4413=)
c.13206A>G (p.Glu4402=)
c.13122A>G (p.Glu4374=)
c.12444A>G (p.Glu4148=)
c.10905A>G (p.Glu3635=)
c.13326A>G (p.Glu4442=)
c.13308A>G (p.Glu4436=)
c.13284A>G (p.Glu4428=)
c.13212A>G (p.Glu4404=)
c.13176A>G (p.Glu4392=)
c.10029A>G (p.Glu3343=)
c.9633A>G (p.Glu3211=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148784T>GCA370093037KMT2Cc.1331A>C
n.2275A>C
c.13314A>C (p.Glu4438Asp)
n.2443A>C
n.8335A>C
c.3716A>C
c.10653A>C (p.Glu3551Asp)
n.4773A>C
c.3788A>C
n.1909A>C
n.1859A>C
c.1560A>C (p.Glu520Asp)
c.8040A>C (p.Glu2680Asp)
c.13143A>C (p.Glu4381Asp)
c.8930A>C
c.3785A>C
c.3719A>C
n.7854A>C
c.8043A>C (p.Glu2681Asp)
c.12708A>C (p.Glu4236Asp)
c.3720A>C
n.2158A>C
c.5824A>C
c.2994A>C (p.Glu998Asp)
n.11025A>C
c.*10663A>C (n.*10663A>C)
c.13359A>C (p.Glu4453Asp)
c.13356A>C (p.Glu4452Asp)
c.13194A>C (p.Glu4398Asp)
c.13287A>C (p.Glu4429Asp)
c.13191A>C (p.Glu4397Asp)
c.13311A>C (p.Glu4437Asp)
c.13239A>C (p.Glu4413Asp)
c.13206A>C (p.Glu4402Asp)
c.13122A>C (p.Glu4374Asp)
c.12444A>C (p.Glu4148Asp)
c.10905A>C (p.Glu3635Asp)
c.13326A>C (p.Glu4442Asp)
c.13308A>C (p.Glu4436Asp)
c.13284A>C (p.Glu4428Asp)
c.13212A>C (p.Glu4404Asp)
c.13176A>C (p.Glu4392Asp)
c.10029A>C (p.Glu3343Asp)
c.9633A>C (p.Glu3211Asp)
7g.152148784T=CA1752986319KMT2Cc.1331A=
n.2275A=
c.13314A= (p.Glu4438=)
n.2443A=
n.8335A=
c.3716A=
c.10653A= (p.Glu3551=)
n.4773A=
c.3788A=
n.1909A=
n.1859A=
c.1560A= (p.Glu520=)
c.8040A= (p.Glu2680=)
c.13143A= (p.Glu4381=)
c.8930A=
c.3785A=
c.3719A=
n.7854A=
c.8043A= (p.Glu2681=)
c.12708A= (p.Glu4236=)
c.3720A=
n.2158A=
c.5824A=
c.2994A= (p.Glu998=)
n.11025A=
c.*10663A= (n.*10663A=)
c.13359A= (p.Glu4453=)
c.13356A= (p.Glu4452=)
c.13194A= (p.Glu4398=)
c.13287A= (p.Glu4429=)
c.13191A= (p.Glu4397=)
c.13311A= (p.Glu4437=)
c.13239A= (p.Glu4413=)
c.13206A= (p.Glu4402=)
c.13122A= (p.Glu4374=)
c.12444A= (p.Glu4148=)
c.10905A= (p.Glu3635=)
c.13326A= (p.Glu4442=)
c.13308A= (p.Glu4436=)
c.13284A= (p.Glu4428=)
c.13212A= (p.Glu4404=)
c.13176A= (p.Glu4392=)
c.10029A= (p.Glu3343=)
c.9633A= (p.Glu3211=)
7g.152148785T>ACA370093038KMT2Cc.1330A>T
n.2274A>T
c.13313A>T (p.Glu4438Val)
n.2442A>T
n.8334A>T
c.3715A>T
c.10652A>T (p.Glu3551Val)
n.4772A>T
c.3787A>T
n.1908A>T
n.1858A>T
c.1559A>T (p.Glu520Val)
c.8039A>T (p.Glu2680Val)
c.13142A>T (p.Glu4381Val)
c.8929A>T
c.3784A>T
c.3718A>T
n.7853A>T
c.8042A>T (p.Glu2681Val)
c.12707A>T (p.Glu4236Val)
c.3719A>T
n.2157A>T
c.5823A>T
c.2993A>T (p.Glu998Val)
n.11024A>T
c.*10662A>T (n.*10662A>T)
c.13358A>T (p.Glu4453Val)
c.13355A>T (p.Glu4452Val)
c.13193A>T (p.Glu4398Val)
c.13286A>T (p.Glu4429Val)
c.13190A>T (p.Glu4397Val)
c.13310A>T (p.Glu4437Val)
c.13238A>T (p.Glu4413Val)
c.13205A>T (p.Glu4402Val)
c.13121A>T (p.Glu4374Val)
c.12443A>T (p.Glu4148Val)
c.10904A>T (p.Glu3635Val)
c.13325A>T (p.Glu4442Val)
c.13307A>T (p.Glu4436Val)
c.13283A>T (p.Glu4428Val)
c.13211A>T (p.Glu4404Val)
c.13175A>T (p.Glu4392Val)
c.10028A>T (p.Glu3343Val)
c.9632A>T (p.Glu3211Val)
7g.152148785T>CCA370093040KMT2Cc.1330A>G
n.2274A>G
c.13313A>G (p.Glu4438Gly)
n.2442A>G
n.8334A>G
c.3715A>G
c.10652A>G (p.Glu3551Gly)
n.4772A>G
c.3787A>G
n.1908A>G
n.1858A>G
c.1559A>G (p.Glu520Gly)
c.8039A>G (p.Glu2680Gly)
c.13142A>G (p.Glu4381Gly)
c.8929A>G
c.3784A>G
c.3718A>G
n.7853A>G
c.8042A>G (p.Glu2681Gly)
c.12707A>G (p.Glu4236Gly)
c.3719A>G
n.2157A>G
c.5823A>G
c.2993A>G (p.Glu998Gly)
n.11024A>G
c.*10662A>G (n.*10662A>G)
c.13358A>G (p.Glu4453Gly)
c.13355A>G (p.Glu4452Gly)
c.13193A>G (p.Glu4398Gly)
c.13286A>G (p.Glu4429Gly)
c.13190A>G (p.Glu4397Gly)
c.13310A>G (p.Glu4437Gly)
c.13238A>G (p.Glu4413Gly)
c.13205A>G (p.Glu4402Gly)
c.13121A>G (p.Glu4374Gly)
c.12443A>G (p.Glu4148Gly)
c.10904A>G (p.Glu3635Gly)
c.13325A>G (p.Glu4442Gly)
c.13307A>G (p.Glu4436Gly)
c.13283A>G (p.Glu4428Gly)
c.13211A>G (p.Glu4404Gly)
c.13175A>G (p.Glu4392Gly)
c.10028A>G (p.Glu3343Gly)
c.9632A>G (p.Glu3211Gly)
7g.152148785T>GCA370093042KMT2Cc.1330A>C
n.2274A>C
c.13313A>C (p.Glu4438Ala)
n.2442A>C
n.8334A>C
c.3715A>C
c.10652A>C (p.Glu3551Ala)
n.4772A>C
c.3787A>C
n.1908A>C
n.1858A>C
c.1559A>C (p.Glu520Ala)
c.8039A>C (p.Glu2680Ala)
c.13142A>C (p.Glu4381Ala)
c.8929A>C
c.3784A>C
c.3718A>C
n.7853A>C
c.8042A>C (p.Glu2681Ala)
c.12707A>C (p.Glu4236Ala)
c.3719A>C
n.2157A>C
c.5823A>C
c.2993A>C (p.Glu998Ala)
n.11024A>C
c.*10662A>C (n.*10662A>C)
c.13358A>C (p.Glu4453Ala)
c.13355A>C (p.Glu4452Ala)
c.13193A>C (p.Glu4398Ala)
c.13286A>C (p.Glu4429Ala)
c.13190A>C (p.Glu4397Ala)
c.13310A>C (p.Glu4437Ala)
c.13238A>C (p.Glu4413Ala)
c.13205A>C (p.Glu4402Ala)
c.13121A>C (p.Glu4374Ala)
c.12443A>C (p.Glu4148Ala)
c.10904A>C (p.Glu3635Ala)
c.13325A>C (p.Glu4442Ala)
c.13307A>C (p.Glu4436Ala)
c.13283A>C (p.Glu4428Ala)
c.13211A>C (p.Glu4404Ala)
c.13175A>C (p.Glu4392Ala)
c.10028A>C (p.Glu3343Ala)
c.9632A>C (p.Glu3211Ala)
7g.152148786C>ACA370093043KMT2Cc.1329G>T
n.2273G>T
c.13312G>T (p.Glu4438Ter)
n.2441G>T
n.8333G>T
c.3714G>T
c.10651G>T (p.Glu3551Ter)
n.4771G>T
c.3786G>T
n.1907G>T
n.1857G>T
c.1558G>T (p.Glu520Ter)
c.8038G>T (p.Glu2680Ter)
c.13141G>T (p.Glu4381Ter)
c.8928G>T
c.3783G>T
c.3717G>T
n.7852G>T
c.8041G>T (p.Glu2681Ter)
c.12706G>T (p.Glu4236Ter)
c.3718G>T
n.2156G>T
c.5822G>T
c.2992G>T (p.Glu998Ter)
n.11023G>T
c.*10661G>T (n.*10661G>T)
c.13357G>T (p.Glu4453Ter)
c.13354G>T (p.Glu4452Ter)
c.13192G>T (p.Glu4398Ter)
c.13285G>T (p.Glu4429Ter)
c.13189G>T (p.Glu4397Ter)
c.13309G>T (p.Glu4437Ter)
c.13237G>T (p.Glu4413Ter)
c.13204G>T (p.Glu4402Ter)
c.13120G>T (p.Glu4374Ter)
c.12442G>T (p.Glu4148Ter)
c.10903G>T (p.Glu3635Ter)
c.13324G>T (p.Glu4442Ter)
c.13306G>T (p.Glu4436Ter)
c.13282G>T (p.Glu4428Ter)
c.13210G>T (p.Glu4404Ter)
c.13174G>T (p.Glu4392Ter)
c.10027G>T (p.Glu3343Ter)
c.9631G>T (p.Glu3211Ter)
7g.152148786C>GCA370093045KMT2Cc.1329G>C
n.2273G>C
c.13312G>C (p.Glu4438Gln)
n.2441G>C
n.8333G>C
c.3714G>C
c.10651G>C (p.Glu3551Gln)
n.4771G>C
c.3786G>C
n.1907G>C
n.1857G>C
c.1558G>C (p.Glu520Gln)
c.8038G>C (p.Glu2680Gln)
c.13141G>C (p.Glu4381Gln)
c.8928G>C
c.3783G>C
c.3717G>C
n.7852G>C
c.8041G>C (p.Glu2681Gln)
c.12706G>C (p.Glu4236Gln)
c.3718G>C
n.2156G>C
c.5822G>C
c.2992G>C (p.Glu998Gln)
n.11023G>C
c.*10661G>C (n.*10661G>C)
c.13357G>C (p.Glu4453Gln)
c.13354G>C (p.Glu4452Gln)
c.13192G>C (p.Glu4398Gln)
c.13285G>C (p.Glu4429Gln)
c.13189G>C (p.Glu4397Gln)
c.13309G>C (p.Glu4437Gln)
c.13237G>C (p.Glu4413Gln)
c.13204G>C (p.Glu4402Gln)
c.13120G>C (p.Glu4374Gln)
c.12442G>C (p.Glu4148Gln)
c.10903G>C (p.Glu3635Gln)
c.13324G>C (p.Glu4442Gln)
c.13306G>C (p.Glu4436Gln)
c.13282G>C (p.Glu4428Gln)
c.13210G>C (p.Glu4404Gln)
c.13174G>C (p.Glu4392Gln)
c.10027G>C (p.Glu3343Gln)
c.9631G>C (p.Glu3211Gln)
7g.152148786C>TCA370093046KMT2Cc.1329G>A
n.2273G>A
c.13312G>A (p.Glu4438Lys)
n.2441G>A
n.8333G>A
c.3714G>A
c.10651G>A (p.Glu3551Lys)
n.4771G>A
c.3786G>A
n.1907G>A
n.1857G>A
c.1558G>A (p.Glu520Lys)
c.8038G>A (p.Glu2680Lys)
c.13141G>A (p.Glu4381Lys)
c.8928G>A
c.3783G>A
c.3717G>A
n.7852G>A
c.8041G>A (p.Glu2681Lys)
c.12706G>A (p.Glu4236Lys)
c.3718G>A
n.2156G>A
c.5822G>A
c.2992G>A (p.Glu998Lys)
n.11023G>A
c.*10661G>A (n.*10661G>A)
c.13357G>A (p.Glu4453Lys)
c.13354G>A (p.Glu4452Lys)
c.13192G>A (p.Glu4398Lys)
c.13285G>A (p.Glu4429Lys)
c.13189G>A (p.Glu4397Lys)
c.13309G>A (p.Glu4437Lys)
c.13237G>A (p.Glu4413Lys)
c.13204G>A (p.Glu4402Lys)
c.13120G>A (p.Glu4374Lys)
c.12442G>A (p.Glu4148Lys)
c.10903G>A (p.Glu3635Lys)
c.13324G>A (p.Glu4442Lys)
c.13306G>A (p.Glu4436Lys)
c.13282G>A (p.Glu4428Lys)
c.13210G>A (p.Glu4404Lys)
c.13174G>A (p.Glu4392Lys)
c.10027G>A (p.Glu3343Lys)
c.9631G>A (p.Glu3211Lys)
gnomAD v4
7g.152148787A=CA1752986324KMT2Cc.1328T=
n.2272T=
c.13311T= (p.Asp4437=)
n.2440T=
n.8332T=
c.3713T=
c.10650T= (p.Asp3550=)
n.4770T=
c.3785T=
n.1906T=
n.1856T=
c.1557T= (p.Asp519=)
c.8037T= (p.Asp2679=)
c.13140T= (p.Asp4380=)
c.8927T=
c.3782T=
c.3716T=
n.7851T=
c.8040T= (p.Asp2680=)
c.12705T= (p.Asp4235=)
c.3717T=
n.2155T=
c.5821T=
c.2991T= (p.Asp997=)
n.11022T=
c.*10660T= (n.*10660T=)
c.13356T= (p.Asp4452=)
c.13353T= (p.Asp4451=)
c.13191T= (p.Asp4397=)
c.13284T= (p.Asp4428=)
c.13188T= (p.Asp4396=)
c.13308T= (p.Asp4436=)
c.13236T= (p.Asp4412=)
c.13203T= (p.Asp4401=)
c.13119T= (p.Asp4373=)
c.12441T= (p.Asp4147=)
c.10902T= (p.Asp3634=)
c.13323T= (p.Asp4441=)
c.13305T= (p.Asp4435=)
c.13281T= (p.Asp4427=)
c.13209T= (p.Asp4403=)
c.13173T= (p.Asp4391=)
c.10026T= (p.Asp3342=)
c.9630T= (p.Asp3210=)
7g.152148787A>CCA169220829KMT2Cc.1328T>G
n.2272T>G
c.13311T>G (p.Asp4437Glu)
n.2440T>G
n.8332T>G
c.3713T>G
c.10650T>G (p.Asp3550Glu)
n.4770T>G
c.3785T>G
n.1906T>G
n.1856T>G
c.1557T>G (p.Asp519Glu)
c.8037T>G (p.Asp2679Glu)
c.13140T>G (p.Asp4380Glu)
c.8927T>G
c.3782T>G
c.3716T>G
n.7851T>G
c.8040T>G (p.Asp2680Glu)
c.12705T>G (p.Asp4235Glu)
c.3717T>G
n.2155T>G
c.5821T>G
c.2991T>G (p.Asp997Glu)
n.11022T>G
c.*10660T>G (n.*10660T>G)
c.13356T>G (p.Asp4452Glu)
c.13353T>G (p.Asp4451Glu)
c.13191T>G (p.Asp4397Glu)
c.13284T>G (p.Asp4428Glu)
c.13188T>G (p.Asp4396Glu)
c.13308T>G (p.Asp4436Glu)
c.13236T>G (p.Asp4412Glu)
c.13203T>G (p.Asp4401Glu)
c.13119T>G (p.Asp4373Glu)
c.12441T>G (p.Asp4147Glu)
c.10902T>G (p.Asp3634Glu)
c.13323T>G (p.Asp4441Glu)
c.13305T>G (p.Asp4435Glu)
c.13281T>G (p.Asp4427Glu)
c.13209T>G (p.Asp4403Glu)
c.13173T>G (p.Asp4391Glu)
c.10026T>G (p.Asp3342Glu)
c.9630T>G (p.Asp3210Glu)
dbSNP
7g.152148787A>GCA169220834KMT2Cc.1328T>C
n.2272T>C
c.13311T>C (p.Asp4437=)
n.2440T>C
n.8332T>C
c.3713T>C
c.10650T>C (p.Asp3550=)
n.4770T>C
c.3785T>C
n.1906T>C
n.1856T>C
c.1557T>C (p.Asp519=)
c.8037T>C (p.Asp2679=)
c.13140T>C (p.Asp4380=)
c.8927T>C
c.3782T>C
c.3716T>C
n.7851T>C
c.8040T>C (p.Asp2680=)
c.12705T>C (p.Asp4235=)
c.3717T>C
n.2155T>C
c.5821T>C
c.2991T>C (p.Asp997=)
n.11022T>C
c.*10660T>C (n.*10660T>C)
c.13356T>C (p.Asp4452=)
c.13353T>C (p.Asp4451=)
c.13191T>C (p.Asp4397=)
c.13284T>C (p.Asp4428=)
c.13188T>C (p.Asp4396=)
c.13308T>C (p.Asp4436=)
c.13236T>C (p.Asp4412=)
c.13203T>C (p.Asp4401=)
c.13119T>C (p.Asp4373=)
c.12441T>C (p.Asp4147=)
c.10902T>C (p.Asp3634=)
c.13323T>C (p.Asp4441=)
c.13305T>C (p.Asp4435=)
c.13281T>C (p.Asp4427=)
c.13209T>C (p.Asp4403=)
c.13173T>C (p.Asp4391=)
c.10026T>C (p.Asp3342=)
c.9630T>C (p.Asp3210=)
dbSNP gnomAD v4
7g.152148787A>TCA370093048KMT2Cc.1328T>A
n.2272T>A
c.13311T>A (p.Asp4437Glu)
n.2440T>A
n.8332T>A
c.3713T>A
c.10650T>A (p.Asp3550Glu)
n.4770T>A
c.3785T>A
n.1906T>A
n.1856T>A
c.1557T>A (p.Asp519Glu)
c.8037T>A (p.Asp2679Glu)
c.13140T>A (p.Asp4380Glu)
c.8927T>A
c.3782T>A
c.3716T>A
n.7851T>A
c.8040T>A (p.Asp2680Glu)
c.12705T>A (p.Asp4235Glu)
c.3717T>A
n.2155T>A
c.5821T>A
c.2991T>A (p.Asp997Glu)
n.11022T>A
c.*10660T>A (n.*10660T>A)
c.13356T>A (p.Asp4452Glu)
c.13353T>A (p.Asp4451Glu)
c.13191T>A (p.Asp4397Glu)
c.13284T>A (p.Asp4428Glu)
c.13188T>A (p.Asp4396Glu)
c.13308T>A (p.Asp4436Glu)
c.13236T>A (p.Asp4412Glu)
c.13203T>A (p.Asp4401Glu)
c.13119T>A (p.Asp4373Glu)
c.12441T>A (p.Asp4147Glu)
c.10902T>A (p.Asp3634Glu)
c.13323T>A (p.Asp4441Glu)
c.13305T>A (p.Asp4435Glu)
c.13281T>A (p.Asp4427Glu)
c.13209T>A (p.Asp4403Glu)
c.13173T>A (p.Asp4391Glu)
c.10026T>A (p.Asp3342Glu)
c.9630T>A (p.Asp3210Glu)
7g.152148788T>ACA370093050KMT2Cc.1327A>T
n.2271A>T
c.13310A>T (p.Asp4437Val)
n.2439A>T
n.8331A>T
c.3712A>T
c.10649A>T (p.Asp3550Val)
n.4769A>T
c.3784A>T
n.1905A>T
n.1855A>T
c.1556A>T (p.Asp519Val)
c.8036A>T (p.Asp2679Val)
c.13139A>T (p.Asp4380Val)
c.8926A>T
c.3781A>T
c.3715A>T
n.7850A>T
c.8039A>T (p.Asp2680Val)
c.12704A>T (p.Asp4235Val)
c.3716A>T
n.2154A>T
c.5820A>T
c.2990A>T (p.Asp997Val)
n.11021A>T
c.*10659A>T (n.*10659A>T)
c.13355A>T (p.Asp4452Val)
c.13352A>T (p.Asp4451Val)
c.13190A>T (p.Asp4397Val)
c.13283A>T (p.Asp4428Val)
c.13187A>T (p.Asp4396Val)
c.13307A>T (p.Asp4436Val)
c.13235A>T (p.Asp4412Val)
c.13202A>T (p.Asp4401Val)
c.13118A>T (p.Asp4373Val)
c.12440A>T (p.Asp4147Val)
c.10901A>T (p.Asp3634Val)
c.13322A>T (p.Asp4441Val)
c.13304A>T (p.Asp4435Val)
c.13280A>T (p.Asp4427Val)
c.13208A>T (p.Asp4403Val)
c.13172A>T (p.Asp4391Val)
c.10025A>T (p.Asp3342Val)
c.9629A>T (p.Asp3210Val)
7g.152148788T>CCA370093051KMT2Cc.1327A>G
n.2271A>G
c.13310A>G (p.Asp4437Gly)
n.2439A>G
n.8331A>G
c.3712A>G
c.10649A>G (p.Asp3550Gly)
n.4769A>G
c.3784A>G
n.1905A>G
n.1855A>G
c.1556A>G (p.Asp519Gly)
c.8036A>G (p.Asp2679Gly)
c.13139A>G (p.Asp4380Gly)
c.8926A>G
c.3781A>G
c.3715A>G
n.7850A>G
c.8039A>G (p.Asp2680Gly)
c.12704A>G (p.Asp4235Gly)
c.3716A>G
n.2154A>G
c.5820A>G
c.2990A>G (p.Asp997Gly)
n.11021A>G
c.*10659A>G (n.*10659A>G)
c.13355A>G (p.Asp4452Gly)
c.13352A>G (p.Asp4451Gly)
c.13190A>G (p.Asp4397Gly)
c.13283A>G (p.Asp4428Gly)
c.13187A>G (p.Asp4396Gly)
c.13307A>G (p.Asp4436Gly)
c.13235A>G (p.Asp4412Gly)
c.13202A>G (p.Asp4401Gly)
c.13118A>G (p.Asp4373Gly)
c.12440A>G (p.Asp4147Gly)
c.10901A>G (p.Asp3634Gly)
c.13322A>G (p.Asp4441Gly)
c.13304A>G (p.Asp4435Gly)
c.13280A>G (p.Asp4427Gly)
c.13208A>G (p.Asp4403Gly)
c.13172A>G (p.Asp4391Gly)
c.10025A>G (p.Asp3342Gly)
c.9629A>G (p.Asp3210Gly)
7g.152148788T>GCA370093049KMT2Cc.1327A>C
n.2271A>C
c.13310A>C (p.Asp4437Ala)
n.2439A>C
n.8331A>C
c.3712A>C
c.10649A>C (p.Asp3550Ala)
n.4769A>C
c.3784A>C
n.1905A>C
n.1855A>C
c.1556A>C (p.Asp519Ala)
c.8036A>C (p.Asp2679Ala)
c.13139A>C (p.Asp4380Ala)
c.8926A>C
c.3781A>C
c.3715A>C
n.7850A>C
c.8039A>C (p.Asp2680Ala)
c.12704A>C (p.Asp4235Ala)
c.3716A>C
n.2154A>C
c.5820A>C
c.2990A>C (p.Asp997Ala)
n.11021A>C
c.*10659A>C (n.*10659A>C)
c.13355A>C (p.Asp4452Ala)
c.13352A>C (p.Asp4451Ala)
c.13190A>C (p.Asp4397Ala)
c.13283A>C (p.Asp4428Ala)
c.13187A>C (p.Asp4396Ala)
c.13307A>C (p.Asp4436Ala)
c.13235A>C (p.Asp4412Ala)
c.13202A>C (p.Asp4401Ala)
c.13118A>C (p.Asp4373Ala)
c.12440A>C (p.Asp4147Ala)
c.10901A>C (p.Asp3634Ala)
c.13322A>C (p.Asp4441Ala)
c.13304A>C (p.Asp4435Ala)
c.13280A>C (p.Asp4427Ala)
c.13208A>C (p.Asp4403Ala)
c.13172A>C (p.Asp4391Ala)
c.10025A>C (p.Asp3342Ala)
c.9629A>C (p.Asp3210Ala)
7g.152148789C>ACA4578665KMT2Cc.1326G>T
n.2270G>T
c.13309G>T (p.Asp4437Tyr)
n.2438G>T
n.8330G>T
c.3711G>T
c.10648G>T (p.Asp3550Tyr)
n.4768G>T
c.3783G>T
n.1904G>T
n.1854G>T
c.1555G>T (p.Asp519Tyr)
c.8035G>T (p.Asp2679Tyr)
c.13138G>T (p.Asp4380Tyr)
c.8925G>T
c.3780G>T
c.3714G>T
n.7849G>T
c.8038G>T (p.Asp2680Tyr)
c.12703G>T (p.Asp4235Tyr)
c.3715G>T
n.2153G>T
c.5819G>T
c.2989G>T (p.Asp997Tyr)
n.11020G>T
c.*10658G>T (n.*10658G>T)
c.13354G>T (p.Asp4452Tyr)
c.13351G>T (p.Asp4451Tyr)
c.13189G>T (p.Asp4397Tyr)
c.13282G>T (p.Asp4428Tyr)
c.13186G>T (p.Asp4396Tyr)
c.13306G>T (p.Asp4436Tyr)
c.13234G>T (p.Asp4412Tyr)
c.13201G>T (p.Asp4401Tyr)
c.13117G>T (p.Asp4373Tyr)
c.12439G>T (p.Asp4147Tyr)
c.10900G>T (p.Asp3634Tyr)
c.13321G>T (p.Asp4441Tyr)
c.13303G>T (p.Asp4435Tyr)
c.13279G>T (p.Asp4427Tyr)
c.13207G>T (p.Asp4403Tyr)
c.13171G>T (p.Asp4391Tyr)
c.10024G>T (p.Asp3342Tyr)
c.9628G>T (p.Asp3210Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.152148789C=CA1752986340KMT2Cc.1326G=
n.2270G=
c.13309G= (p.Asp4437=)
n.2438G=
n.8330G=
c.3711G=
c.10648G= (p.Asp3550=)
n.4768G=
c.3783G=
n.1904G=
n.1854G=
c.1555G= (p.Asp519=)
c.8035G= (p.Asp2679=)
c.13138G= (p.Asp4380=)
c.8925G=
c.3780G=
c.3714G=
n.7849G=
c.8038G= (p.Asp2680=)
c.12703G= (p.Asp4235=)
c.3715G=
n.2153G=
c.5819G=
c.2989G= (p.Asp997=)
n.11020G=
c.*10658G= (n.*10658G=)
c.13354G= (p.Asp4452=)
c.13351G= (p.Asp4451=)
c.13189G= (p.Asp4397=)
c.13282G= (p.Asp4428=)
c.13186G= (p.Asp4396=)
c.13306G= (p.Asp4436=)
c.13234G= (p.Asp4412=)
c.13201G= (p.Asp4401=)
c.13117G= (p.Asp4373=)
c.12439G= (p.Asp4147=)
c.10900G= (p.Asp3634=)
c.13321G= (p.Asp4441=)
c.13303G= (p.Asp4435=)
c.13279G= (p.Asp4427=)
c.13207G= (p.Asp4403=)
c.13171G= (p.Asp4391=)
c.10024G= (p.Asp3342=)
c.9628G= (p.Asp3210=)
7g.152148789C>GCA370093054KMT2Cc.1326G>C
n.2270G>C
c.13309G>C (p.Asp4437His)
n.2438G>C
n.8330G>C
c.3711G>C
c.10648G>C (p.Asp3550His)
n.4768G>C
c.3783G>C
n.1904G>C
n.1854G>C
c.1555G>C (p.Asp519His)
c.8035G>C (p.Asp2679His)
c.13138G>C (p.Asp4380His)
c.8925G>C
c.3780G>C
c.3714G>C
n.7849G>C
c.8038G>C (p.Asp2680His)
c.12703G>C (p.Asp4235His)
c.3715G>C
n.2153G>C
c.5819G>C
c.2989G>C (p.Asp997His)
n.11020G>C
c.*10658G>C (n.*10658G>C)
c.13354G>C (p.Asp4452His)
c.13351G>C (p.Asp4451His)
c.13189G>C (p.Asp4397His)
c.13282G>C (p.Asp4428His)
c.13186G>C (p.Asp4396His)
c.13306G>C (p.Asp4436His)
c.13234G>C (p.Asp4412His)
c.13201G>C (p.Asp4401His)
c.13117G>C (p.Asp4373His)
c.12439G>C (p.Asp4147His)
c.10900G>C (p.Asp3634His)
c.13321G>C (p.Asp4441His)
c.13303G>C (p.Asp4435His)
c.13279G>C (p.Asp4427His)
c.13207G>C (p.Asp4403His)
c.13171G>C (p.Asp4391His)
c.10024G>C (p.Asp3342His)
c.9628G>C (p.Asp3210His)
dbSNP
7g.152148789C>TCA370093053KMT2Cc.1326G>A
n.2270G>A
c.13309G>A (p.Asp4437Asn)
n.2438G>A
n.8330G>A
c.3711G>A
c.10648G>A (p.Asp3550Asn)
n.4768G>A
c.3783G>A
n.1904G>A
n.1854G>A
c.1555G>A (p.Asp519Asn)
c.8035G>A (p.Asp2679Asn)
c.13138G>A (p.Asp4380Asn)
c.8925G>A
c.3780G>A
c.3714G>A
n.7849G>A
c.8038G>A (p.Asp2680Asn)
c.12703G>A (p.Asp4235Asn)
c.3715G>A
n.2153G>A
c.5819G>A
c.2989G>A (p.Asp997Asn)
n.11020G>A
c.*10658G>A (n.*10658G>A)
c.13354G>A (p.Asp4452Asn)
c.13351G>A (p.Asp4451Asn)
c.13189G>A (p.Asp4397Asn)
c.13282G>A (p.Asp4428Asn)
c.13186G>A (p.Asp4396Asn)
c.13306G>A (p.Asp4436Asn)
c.13234G>A (p.Asp4412Asn)
c.13201G>A (p.Asp4401Asn)
c.13117G>A (p.Asp4373Asn)
c.12439G>A (p.Asp4147Asn)
c.10900G>A (p.Asp3634Asn)
c.13321G>A (p.Asp4441Asn)
c.13303G>A (p.Asp4435Asn)
c.13279G>A (p.Asp4427Asn)
c.13207G>A (p.Asp4403Asn)
c.13171G>A (p.Asp4391Asn)
c.10024G>A (p.Asp3342Asn)
c.9628G>A (p.Asp3210Asn)
7g.152148790T>ACA458884714KMT2Cc.1325A>T
n.2269A>T
c.13308A>T (p.Ile4436=)
n.2437A>T
n.8329A>T
c.3710A>T
c.10647A>T (p.Ile3549=)
n.4767A>T
c.3782A>T
n.1903A>T
n.1853A>T
c.1554A>T (p.Ile518=)
c.8034A>T (p.Ile2678=)
c.13137A>T (p.Ile4379=)
c.8924A>T
c.3779A>T
c.3713A>T
n.7848A>T
c.8037A>T (p.Ile2679=)
c.12702A>T (p.Ile4234=)
c.3714A>T
n.2152A>T
c.5818A>T
c.2988A>T (p.Ile996=)
n.11019A>T
c.*10657A>T (n.*10657A>T)
c.13353A>T (p.Ile4451=)
c.13350A>T (p.Ile4450=)
c.13188A>T (p.Ile4396=)
c.13281A>T (p.Ile4427=)
c.13185A>T (p.Ile4395=)
c.13305A>T (p.Ile4435=)
c.13233A>T (p.Ile4411=)
c.13200A>T (p.Ile4400=)
c.13116A>T (p.Ile4372=)
c.12438A>T (p.Ile4146=)
c.10899A>T (p.Ile3633=)
c.13320A>T (p.Ile4440=)
c.13302A>T (p.Ile4434=)
c.13278A>T (p.Ile4426=)
c.13206A>T (p.Ile4402=)
c.13170A>T (p.Ile4390=)
c.10023A>T (p.Ile3341=)
c.9627A>T (p.Ile3209=)
7g.152148790T>CCA370093056KMT2Cc.1325A>G
n.2269A>G
c.13308A>G (p.Ile4436Met)
n.2437A>G
n.8329A>G
c.3710A>G
c.10647A>G (p.Ile3549Met)
n.4767A>G
c.3782A>G
n.1903A>G
n.1853A>G
c.1554A>G (p.Ile518Met)
c.8034A>G (p.Ile2678Met)
c.13137A>G (p.Ile4379Met)
c.8924A>G
c.3779A>G
c.3713A>G
n.7848A>G
c.8037A>G (p.Ile2679Met)
c.12702A>G (p.Ile4234Met)
c.3714A>G
n.2152A>G
c.5818A>G
c.2988A>G (p.Ile996Met)
n.11019A>G
c.*10657A>G (n.*10657A>G)
c.13353A>G (p.Ile4451Met)
c.13350A>G (p.Ile4450Met)
c.13188A>G (p.Ile4396Met)
c.13281A>G (p.Ile4427Met)
c.13185A>G (p.Ile4395Met)
c.13305A>G (p.Ile4435Met)
c.13233A>G (p.Ile4411Met)
c.13200A>G (p.Ile4400Met)
c.13116A>G (p.Ile4372Met)
c.12438A>G (p.Ile4146Met)
c.10899A>G (p.Ile3633Met)
c.13320A>G (p.Ile4440Met)
c.13302A>G (p.Ile4434Met)
c.13278A>G (p.Ile4426Met)
c.13206A>G (p.Ile4402Met)
c.13170A>G (p.Ile4390Met)
c.10023A>G (p.Ile3341Met)
c.9627A>G (p.Ile3209Met)
7g.152148790T>GCA458884715KMT2Cc.1325A>C
n.2269A>C
c.13308A>C (p.Ile4436=)
n.2437A>C
n.8329A>C
c.3710A>C
c.10647A>C (p.Ile3549=)
n.4767A>C
c.3782A>C
n.1903A>C
n.1853A>C
c.1554A>C (p.Ile518=)
c.8034A>C (p.Ile2678=)
c.13137A>C (p.Ile4379=)
c.8924A>C
c.3779A>C
c.3713A>C
n.7848A>C
c.8037A>C (p.Ile2679=)
c.12702A>C (p.Ile4234=)
c.3714A>C
n.2152A>C
c.5818A>C
c.2988A>C (p.Ile996=)
n.11019A>C
c.*10657A>C (n.*10657A>C)
c.13353A>C (p.Ile4451=)
c.13350A>C (p.Ile4450=)
c.13188A>C (p.Ile4396=)
c.13281A>C (p.Ile4427=)
c.13185A>C (p.Ile4395=)
c.13305A>C (p.Ile4435=)
c.13233A>C (p.Ile4411=)
c.13200A>C (p.Ile4400=)
c.13116A>C (p.Ile4372=)
c.12438A>C (p.Ile4146=)
c.10899A>C (p.Ile3633=)
c.13320A>C (p.Ile4440=)
c.13302A>C (p.Ile4434=)
c.13278A>C (p.Ile4426=)
c.13206A>C (p.Ile4402=)
c.13170A>C (p.Ile4390=)
c.10023A>C (p.Ile3341=)
c.9627A>C (p.Ile3209=)
7g.152148791A>CCA370093058KMT2Cc.1324T>G
n.2268T>G
c.13307T>G (p.Ile4436Arg)
n.2436T>G
n.8328T>G
c.3709T>G
c.10646T>G (p.Ile3549Arg)
n.4766T>G
c.3781T>G
n.1902T>G
n.1852T>G
c.1553T>G (p.Ile518Arg)
c.8033T>G (p.Ile2678Arg)
c.13136T>G (p.Ile4379Arg)
c.8923T>G
c.3778T>G
c.3712T>G
n.7847T>G
c.8036T>G (p.Ile2679Arg)
c.12701T>G (p.Ile4234Arg)
c.3713T>G
n.2151T>G
c.5817T>G
c.2987T>G (p.Ile996Arg)
n.11018T>G
c.*10656T>G (n.*10656T>G)
c.13352T>G (p.Ile4451Arg)
c.13349T>G (p.Ile4450Arg)
c.13187T>G (p.Ile4396Arg)
c.13280T>G (p.Ile4427Arg)
c.13184T>G (p.Ile4395Arg)
c.13304T>G (p.Ile4435Arg)
c.13232T>G (p.Ile4411Arg)
c.13199T>G (p.Ile4400Arg)
c.13115T>G (p.Ile4372Arg)
c.12437T>G (p.Ile4146Arg)
c.10898T>G (p.Ile3633Arg)
c.13319T>G (p.Ile4440Arg)
c.13301T>G (p.Ile4434Arg)
c.13277T>G (p.Ile4426Arg)
c.13205T>G (p.Ile4402Arg)
c.13169T>G (p.Ile4390Arg)
c.10022T>G (p.Ile3341Arg)
c.9626T>G (p.Ile3209Arg)
7g.152148791A>GCA370093060KMT2Cc.1324T>C
n.2268T>C
c.13307T>C (p.Ile4436Thr)
n.2436T>C
n.8328T>C
c.3709T>C
c.10646T>C (p.Ile3549Thr)
n.4766T>C
c.3781T>C
n.1902T>C
n.1852T>C
c.1553T>C (p.Ile518Thr)
c.8033T>C (p.Ile2678Thr)
c.13136T>C (p.Ile4379Thr)
c.8923T>C
c.3778T>C
c.3712T>C
n.7847T>C
c.8036T>C (p.Ile2679Thr)
c.12701T>C (p.Ile4234Thr)
c.3713T>C
n.2151T>C
c.5817T>C
c.2987T>C (p.Ile996Thr)
n.11018T>C
c.*10656T>C (n.*10656T>C)
c.13352T>C (p.Ile4451Thr)
c.13349T>C (p.Ile4450Thr)
c.13187T>C (p.Ile4396Thr)
c.13280T>C (p.Ile4427Thr)
c.13184T>C (p.Ile4395Thr)
c.13304T>C (p.Ile4435Thr)
c.13232T>C (p.Ile4411Thr)
c.13199T>C (p.Ile4400Thr)
c.13115T>C (p.Ile4372Thr)
c.12437T>C (p.Ile4146Thr)
c.10898T>C (p.Ile3633Thr)
c.13319T>C (p.Ile4440Thr)
c.13301T>C (p.Ile4434Thr)
c.13277T>C (p.Ile4426Thr)
c.13205T>C (p.Ile4402Thr)
c.13169T>C (p.Ile4390Thr)
c.10022T>C (p.Ile3341Thr)
c.9626T>C (p.Ile3209Thr)
7g.152148791A>TCA370093061KMT2Cc.1324T>A
n.2268T>A
c.13307T>A (p.Ile4436Lys)
n.2436T>A
n.8328T>A
c.3709T>A
c.10646T>A (p.Ile3549Lys)
n.4766T>A
c.3781T>A
n.1902T>A
n.1852T>A
c.1553T>A (p.Ile518Lys)
c.8033T>A (p.Ile2678Lys)
c.13136T>A (p.Ile4379Lys)
c.8923T>A
c.3778T>A
c.3712T>A
n.7847T>A
c.8036T>A (p.Ile2679Lys)
c.12701T>A (p.Ile4234Lys)
c.3713T>A
n.2151T>A
c.5817T>A
c.2987T>A (p.Ile996Lys)
n.11018T>A
c.*10656T>A (n.*10656T>A)
c.13352T>A (p.Ile4451Lys)
c.13349T>A (p.Ile4450Lys)
c.13187T>A (p.Ile4396Lys)
c.13280T>A (p.Ile4427Lys)
c.13184T>A (p.Ile4395Lys)
c.13304T>A (p.Ile4435Lys)
c.13232T>A (p.Ile4411Lys)
c.13199T>A (p.Ile4400Lys)
c.13115T>A (p.Ile4372Lys)
c.12437T>A (p.Ile4146Lys)
c.10898T>A (p.Ile3633Lys)
c.13319T>A (p.Ile4440Lys)
c.13301T>A (p.Ile4434Lys)
c.13277T>A (p.Ile4426Lys)
c.13205T>A (p.Ile4402Lys)
c.13169T>A (p.Ile4390Lys)
c.10022T>A (p.Ile3341Lys)
c.9626T>A (p.Ile3209Lys)
7g.152148792T>ACA370093062KMT2Cc.1323A>T
n.2267A>T
c.13306A>T (p.Ile4436Leu)
n.2435A>T
n.8327A>T
c.3708A>T
c.10645A>T (p.Ile3549Leu)
n.4765A>T
c.3780A>T
n.1901A>T
n.1851A>T
c.1552A>T (p.Ile518Leu)
c.8032A>T (p.Ile2678Leu)
c.13135A>T (p.Ile4379Leu)
c.8922A>T
c.3777A>T
c.3711A>T
n.7846A>T
c.8035A>T (p.Ile2679Leu)
c.12700A>T (p.Ile4234Leu)
c.3712A>T
n.2150A>T
c.5816A>T
c.2986A>T (p.Ile996Leu)
n.11017A>T
c.*10655A>T (n.*10655A>T)
c.13351A>T (p.Ile4451Leu)
c.13348A>T (p.Ile4450Leu)
c.13186A>T (p.Ile4396Leu)
c.13279A>T (p.Ile4427Leu)
c.13183A>T (p.Ile4395Leu)
c.13303A>T (p.Ile4435Leu)
c.13231A>T (p.Ile4411Leu)
c.13198A>T (p.Ile4400Leu)
c.13114A>T (p.Ile4372Leu)
c.12436A>T (p.Ile4146Leu)
c.10897A>T (p.Ile3633Leu)
c.13318A>T (p.Ile4440Leu)
c.13300A>T (p.Ile4434Leu)
c.13276A>T (p.Ile4426Leu)
c.13204A>T (p.Ile4402Leu)
c.13168A>T (p.Ile4390Leu)
c.10021A>T (p.Ile3341Leu)
c.9625A>T (p.Ile3209Leu)
7g.152148792T>CCA169220845KMT2Cc.1323A>G
n.2267A>G
c.13306A>G (p.Ile4436Val)
n.2435A>G
n.8327A>G
c.3708A>G
c.10645A>G (p.Ile3549Val)
n.4765A>G
c.3780A>G
n.1901A>G
n.1851A>G
c.1552A>G (p.Ile518Val)
c.8032A>G (p.Ile2678Val)
c.13135A>G (p.Ile4379Val)
c.8922A>G
c.3777A>G
c.3711A>G
n.7846A>G
c.8035A>G (p.Ile2679Val)
c.12700A>G (p.Ile4234Val)
c.3712A>G
n.2150A>G
c.5816A>G
c.2986A>G (p.Ile996Val)
n.11017A>G
c.*10655A>G (n.*10655A>G)
c.13351A>G (p.Ile4451Val)
c.13348A>G (p.Ile4450Val)
c.13186A>G (p.Ile4396Val)
c.13279A>G (p.Ile4427Val)
c.13183A>G (p.Ile4395Val)
c.13303A>G (p.Ile4435Val)
c.13231A>G (p.Ile4411Val)
c.13198A>G (p.Ile4400Val)
c.13114A>G (p.Ile4372Val)
c.12436A>G (p.Ile4146Val)
c.10897A>G (p.Ile3633Val)
c.13318A>G (p.Ile4440Val)
c.13300A>G (p.Ile4434Val)
c.13276A>G (p.Ile4426Val)
c.13204A>G (p.Ile4402Val)
c.13168A>G (p.Ile4390Val)
c.10021A>G (p.Ile3341Val)
c.9625A>G (p.Ile3209Val)
dbSNP gnomAD v2 gnomAD v4
7g.152148792T>GCA370093064KMT2Cc.1323A>C
n.2267A>C
c.13306A>C (p.Ile4436Leu)
n.2435A>C
n.8327A>C
c.3708A>C
c.10645A>C (p.Ile3549Leu)
n.4765A>C
c.3780A>C
n.1901A>C
n.1851A>C
c.1552A>C (p.Ile518Leu)
c.8032A>C (p.Ile2678Leu)
c.13135A>C (p.Ile4379Leu)
c.8922A>C
c.3777A>C
c.3711A>C
n.7846A>C
c.8035A>C (p.Ile2679Leu)
c.12700A>C (p.Ile4234Leu)
c.3712A>C
n.2150A>C
c.5816A>C
c.2986A>C (p.Ile996Leu)
n.11017A>C
c.*10655A>C (n.*10655A>C)
c.13351A>C (p.Ile4451Leu)
c.13348A>C (p.Ile4450Leu)
c.13186A>C (p.Ile4396Leu)
c.13279A>C (p.Ile4427Leu)
c.13183A>C (p.Ile4395Leu)
c.13303A>C (p.Ile4435Leu)
c.13231A>C (p.Ile4411Leu)
c.13198A>C (p.Ile4400Leu)
c.13114A>C (p.Ile4372Leu)
c.12436A>C (p.Ile4146Leu)
c.10897A>C (p.Ile3633Leu)
c.13318A>C (p.Ile4440Leu)
c.13300A>C (p.Ile4434Leu)
c.13276A>C (p.Ile4426Leu)
c.13204A>C (p.Ile4402Leu)
c.13168A>C (p.Ile4390Leu)
c.10021A>C (p.Ile3341Leu)
c.9625A>C (p.Ile3209Leu)
7g.152148792T=CA1752986343KMT2Cc.1323A=
n.2267A=
c.13306A= (p.Ile4436=)
n.2435A=
n.8327A=
c.3708A=
c.10645A= (p.Ile3549=)
n.4765A=
c.3780A=
n.1901A=
n.1851A=
c.1552A= (p.Ile518=)
c.8032A= (p.Ile2678=)
c.13135A= (p.Ile4379=)
c.8922A=
c.3777A=
c.3711A=
n.7846A=
c.8035A= (p.Ile2679=)
c.12700A= (p.Ile4234=)
c.3712A=
n.2150A=
c.5816A=
c.2986A= (p.Ile996=)
n.11017A=
c.*10655A= (n.*10655A=)
c.13351A= (p.Ile4451=)
c.13348A= (p.Ile4450=)
c.13186A= (p.Ile4396=)
c.13279A= (p.Ile4427=)
c.13183A= (p.Ile4395=)
c.13303A= (p.Ile4435=)
c.13231A= (p.Ile4411=)
c.13198A= (p.Ile4400=)
c.13114A= (p.Ile4372=)
c.12436A= (p.Ile4146=)
c.10897A= (p.Ile3633=)
c.13318A= (p.Ile4440=)
c.13300A= (p.Ile4434=)
c.13276A= (p.Ile4426=)
c.13204A= (p.Ile4402=)
c.13168A= (p.Ile4390=)
c.10021A= (p.Ile3341=)
c.9625A= (p.Ile3209=)
7g.152148793T>ACA370093067KMT2Cc.1322A>T
n.2266A>T
c.13305A>T (p.Glu4435Asp)
n.2434A>T
n.8326A>T
c.3707A>T
c.10644A>T (p.Glu3548Asp)
n.4764A>T
c.3779A>T
n.1900A>T
n.1850A>T
c.1551A>T (p.Glu517Asp)
c.8031A>T (p.Glu2677Asp)
c.13134A>T (p.Glu4378Asp)
c.8921A>T
c.3776A>T
c.3710A>T
n.7845A>T
c.8034A>T (p.Glu2678Asp)
c.12699A>T (p.Glu4233Asp)
c.3711A>T
n.2149A>T
c.5815A>T
c.2985A>T (p.Glu995Asp)
n.11016A>T
c.*10654A>T (n.*10654A>T)
c.13350A>T (p.Glu4450Asp)
c.13347A>T (p.Glu4449Asp)
c.13185A>T (p.Glu4395Asp)
c.13278A>T (p.Glu4426Asp)
c.13182A>T (p.Glu4394Asp)
c.13302A>T (p.Glu4434Asp)
c.13230A>T (p.Glu4410Asp)
c.13197A>T (p.Glu4399Asp)
c.13113A>T (p.Glu4371Asp)
c.12435A>T (p.Glu4145Asp)
c.10896A>T (p.Glu3632Asp)
c.13317A>T (p.Glu4439Asp)
c.13299A>T (p.Glu4433Asp)
c.13275A>T (p.Glu4425Asp)
c.13203A>T (p.Glu4401Asp)
c.13167A>T (p.Glu4389Asp)
c.10020A>T (p.Glu3340Asp)
c.9624A>T (p.Glu3208Asp)
7g.152148793T>CCA458884721KMT2Cc.1322A>G
n.2266A>G
c.13305A>G (p.Glu4435=)
n.2434A>G
n.8326A>G
c.3707A>G
c.10644A>G (p.Glu3548=)
n.4764A>G
c.3779A>G
n.1900A>G
n.1850A>G
c.1551A>G (p.Glu517=)
c.8031A>G (p.Glu2677=)
c.13134A>G (p.Glu4378=)
c.8921A>G
c.3776A>G
c.3710A>G
n.7845A>G
c.8034A>G (p.Glu2678=)
c.12699A>G (p.Glu4233=)
c.3711A>G
n.2149A>G
c.5815A>G
c.2985A>G (p.Glu995=)
n.11016A>G
c.*10654A>G (n.*10654A>G)
c.13350A>G (p.Glu4450=)
c.13347A>G (p.Glu4449=)
c.13185A>G (p.Glu4395=)
c.13278A>G (p.Glu4426=)
c.13182A>G (p.Glu4394=)
c.13302A>G (p.Glu4434=)
c.13230A>G (p.Glu4410=)
c.13197A>G (p.Glu4399=)
c.13113A>G (p.Glu4371=)
c.12435A>G (p.Glu4145=)
c.10896A>G (p.Glu3632=)
c.13317A>G (p.Glu4439=)
c.13299A>G (p.Glu4433=)
c.13275A>G (p.Glu4425=)
c.13203A>G (p.Glu4401=)
c.13167A>G (p.Glu4389=)
c.10020A>G (p.Glu3340=)
c.9624A>G (p.Glu3208=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.152148793T>GCA370093068KMT2Cc.1322A>C
n.2266A>C
c.13305A>C (p.Glu4435Asp)
n.2434A>C
n.8326A>C
c.3707A>C
c.10644A>C (p.Glu3548Asp)
n.4764A>C
c.3779A>C
n.1900A>C
n.1850A>C
c.1551A>C (p.Glu517Asp)
c.8031A>C (p.Glu2677Asp)
c.13134A>C (p.Glu4378Asp)
c.8921A>C
c.3776A>C
c.3710A>C
n.7845A>C
c.8034A>C (p.Glu2678Asp)
c.12699A>C (p.Glu4233Asp)
c.3711A>C
n.2149A>C
c.5815A>C
c.2985A>C (p.Glu995Asp)
n.11016A>C
c.*10654A>C (n.*10654A>C)
c.13350A>C (p.Glu4450Asp)
c.13347A>C (p.Glu4449Asp)
c.13185A>C (p.Glu4395Asp)
c.13278A>C (p.Glu4426Asp)
c.13182A>C (p.Glu4394Asp)
c.13302A>C (p.Glu4434Asp)
c.13230A>C (p.Glu4410Asp)
c.13197A>C (p.Glu4399Asp)
c.13113A>C (p.Glu4371Asp)
c.12435A>C (p.Glu4145Asp)
c.10896A>C (p.Glu3632Asp)
c.13317A>C (p.Glu4439Asp)
c.13299A>C (p.Glu4433Asp)
c.13275A>C (p.Glu4425Asp)
c.13203A>C (p.Glu4401Asp)
c.13167A>C (p.Glu4389Asp)
c.10020A>C (p.Glu3340Asp)
c.9624A>C (p.Glu3208Asp)
7g.152148793T=CA1752986347KMT2Cc.1322A=
n.2266A=
c.13305A= (p.Glu4435=)
n.2434A=
n.8326A=
c.3707A=
c.10644A= (p.Glu3548=)
n.4764A=
c.3779A=
n.1900A=
n.1850A=
c.1551A= (p.Glu517=)
c.8031A= (p.Glu2677=)
c.13134A= (p.Glu4378=)
c.8921A=
c.3776A=
c.3710A=
n.7845A=
c.8034A= (p.Glu2678=)
c.12699A= (p.Glu4233=)
c.3711A=
n.2149A=
c.5815A=
c.2985A= (p.Glu995=)
n.11016A=
c.*10654A= (n.*10654A=)
c.13350A= (p.Glu4450=)
c.13347A= (p.Glu4449=)
c.13185A= (p.Glu4395=)
c.13278A= (p.Glu4426=)
c.13182A= (p.Glu4394=)
c.13302A= (p.Glu4434=)
c.13230A= (p.Glu4410=)
c.13197A= (p.Glu4399=)
c.13113A= (p.Glu4371=)
c.12435A= (p.Glu4145=)
c.10896A= (p.Glu3632=)
c.13317A= (p.Glu4439=)
c.13299A= (p.Glu4433=)
c.13275A= (p.Glu4425=)
c.13203A= (p.Glu4401=)
c.13167A= (p.Glu4389=)
c.10020A= (p.Glu3340=)
c.9624A= (p.Glu3208=)
7g.152148794T>ACA370093070KMT2Cc.1321A>T
n.2265A>T
c.13304A>T (p.Glu4435Val)
n.2433A>T
n.8325A>T
c.3706A>T
c.10643A>T (p.Glu3548Val)
n.4763A>T
c.3778A>T
n.1899A>T
n.1849A>T
c.1550A>T (p.Glu517Val)
c.8030A>T (p.Glu2677Val)
c.13133A>T (p.Glu4378Val)
c.8920A>T
c.3775A>T
c.3709A>T
n.7844A>T
c.8033A>T (p.Glu2678Val)
c.12698A>T (p.Glu4233Val)
c.3710A>T
n.2148A>T
c.5814A>T
c.2984A>T (p.Glu995Val)
n.11015A>T
c.*10653A>T (n.*10653A>T)
c.13349A>T (p.Glu4450Val)
c.13346A>T (p.Glu4449Val)
c.13184A>T (p.Glu4395Val)
c.13277A>T (p.Glu4426Val)
c.13181A>T (p.Glu4394Val)
c.13301A>T (p.Glu4434Val)
c.13229A>T (p.Glu4410Val)
c.13196A>T (p.Glu4399Val)
c.13112A>T (p.Glu4371Val)
c.12434A>T (p.Glu4145Val)
c.10895A>T (p.Glu3632Val)
c.13316A>T (p.Glu4439Val)
c.13298A>T (p.Glu4433Val)
c.13274A>T (p.Glu4425Val)
c.13202A>T (p.Glu4401Val)
c.13166A>T (p.Glu4389Val)
c.10019A>T (p.Glu3340Val)
c.9623A>T (p.Glu3208Val)
7g.152148794T>CCA370093072KMT2Cc.1321A>G
n.2265A>G
c.13304A>G (p.Glu4435Gly)
n.2433A>G
n.8325A>G
c.3706A>G
c.10643A>G (p.Glu3548Gly)
n.4763A>G
c.3778A>G
n.1899A>G
n.1849A>G
c.1550A>G (p.Glu517Gly)
c.8030A>G (p.Glu2677Gly)
c.13133A>G (p.Glu4378Gly)
c.8920A>G
c.3775A>G
c.3709A>G
n.7844A>G
c.8033A>G (p.Glu2678Gly)
c.12698A>G (p.Glu4233Gly)
c.3710A>G
n.2148A>G
c.5814A>G
c.2984A>G (p.Glu995Gly)
n.11015A>G
c.*10653A>G (n.*10653A>G)
c.13349A>G (p.Glu4450Gly)
c.13346A>G (p.Glu4449Gly)
c.13184A>G (p.Glu4395Gly)
c.13277A>G (p.Glu4426Gly)
c.13181A>G (p.Glu4394Gly)
c.13301A>G (p.Glu4434Gly)
c.13229A>G (p.Glu4410Gly)
c.13196A>G (p.Glu4399Gly)
c.13112A>G (p.Glu4371Gly)
c.12434A>G (p.Glu4145Gly)
c.10895A>G (p.Glu3632Gly)
c.13316A>G (p.Glu4439Gly)
c.13298A>G (p.Glu4433Gly)
c.13274A>G (p.Glu4425Gly)
c.13202A>G (p.Glu4401Gly)
c.13166A>G (p.Glu4389Gly)
c.10019A>G (p.Glu3340Gly)
c.9623A>G (p.Glu3208Gly)
7g.152148794T>GCA370093074KMT2Cc.1321A>C
n.2265A>C
c.13304A>C (p.Glu4435Ala)
n.2433A>C
n.8325A>C
c.3706A>C
c.10643A>C (p.Glu3548Ala)
n.4763A>C
c.3778A>C
n.1899A>C
n.1849A>C
c.1550A>C (p.Glu517Ala)
c.8030A>C (p.Glu2677Ala)
c.13133A>C (p.Glu4378Ala)
c.8920A>C
c.3775A>C
c.3709A>C
n.7844A>C
c.8033A>C (p.Glu2678Ala)
c.12698A>C (p.Glu4233Ala)
c.3710A>C
n.2148A>C
c.5814A>C
c.2984A>C (p.Glu995Ala)
n.11015A>C
c.*10653A>C (n.*10653A>C)
c.13349A>C (p.Glu4450Ala)
c.13346A>C (p.Glu4449Ala)
c.13184A>C (p.Glu4395Ala)
c.13277A>C (p.Glu4426Ala)
c.13181A>C (p.Glu4394Ala)
c.13301A>C (p.Glu4434Ala)
c.13229A>C (p.Glu4410Ala)
c.13196A>C (p.Glu4399Ala)
c.13112A>C (p.Glu4371Ala)
c.12434A>C (p.Glu4145Ala)
c.10895A>C (p.Glu3632Ala)
c.13316A>C (p.Glu4439Ala)
c.13298A>C (p.Glu4433Ala)
c.13274A>C (p.Glu4425Ala)
c.13202A>C (p.Glu4401Ala)
c.13166A>C (p.Glu4389Ala)
c.10019A>C (p.Glu3340Ala)
c.9623A>C (p.Glu3208Ala)
7g.152148795C>ACA370093075KMT2Cc.1320G>T
n.2264G>T
c.13303G>T (p.Glu4435Ter)
n.2432G>T
n.8324G>T
c.3705G>T
c.10642G>T (p.Glu3548Ter)
n.4762G>T
c.3777G>T
n.1898G>T
n.1848G>T
c.1549G>T (p.Glu517Ter)
c.8029G>T (p.Glu2677Ter)
c.13132G>T (p.Glu4378Ter)
c.8919G>T
c.3774G>T
c.3708G>T
n.7843G>T
c.8032G>T (p.Glu2678Ter)
c.12697G>T (p.Glu4233Ter)
c.3709G>T
n.2147G>T
c.5813G>T
c.2983G>T (p.Glu995Ter)
n.11014G>T
c.*10652G>T (n.*10652G>T)
c.13348G>T (p.Glu4450Ter)
c.13345G>T (p.Glu4449Ter)
c.13183G>T (p.Glu4395Ter)
c.13276G>T (p.Glu4426Ter)
c.13180G>T (p.Glu4394Ter)
c.13300G>T (p.Glu4434Ter)
c.13228G>T (p.Glu4410Ter)
c.13195G>T (p.Glu4399Ter)
c.13111G>T (p.Glu4371Ter)
c.12433G>T (p.Glu4145Ter)
c.10894G>T (p.Glu3632Ter)
c.13315G>T (p.Glu4439Ter)
c.13297G>T (p.Glu4433Ter)
c.13273G>T (p.Glu4425Ter)
c.13201G>T (p.Glu4401Ter)
c.13165G>T (p.Glu4389Ter)
c.10018G>T (p.Glu3340Ter)
c.9622G>T (p.Glu3208Ter)
7g.152148795C>GCA370093077KMT2Cc.1320G>C
n.2264G>C
c.13303G>C (p.Glu4435Gln)
n.2432G>C
n.8324G>C
c.3705G>C
c.10642G>C (p.Glu3548Gln)
n.4762G>C
c.3777G>C
n.1898G>C
n.1848G>C
c.1549G>C (p.Glu517Gln)
c.8029G>C (p.Glu2677Gln)
c.13132G>C (p.Glu4378Gln)
c.8919G>C
c.3774G>C
c.3708G>C
n.7843G>C
c.8032G>C (p.Glu2678Gln)
c.12697G>C (p.Glu4233Gln)
c.3709G>C
n.2147G>C
c.5813G>C
c.2983G>C (p.Glu995Gln)
n.11014G>C
c.*10652G>C (n.*10652G>C)
c.13348G>C (p.Glu4450Gln)
c.13345G>C (p.Glu4449Gln)
c.13183G>C (p.Glu4395Gln)
c.13276G>C (p.Glu4426Gln)
c.13180G>C (p.Glu4394Gln)
c.13300G>C (p.Glu4434Gln)
c.13228G>C (p.Glu4410Gln)
c.13195G>C (p.Glu4399Gln)
c.13111G>C (p.Glu4371Gln)
c.12433G>C (p.Glu4145Gln)
c.10894G>C (p.Glu3632Gln)
c.13315G>C (p.Glu4439Gln)
c.13297G>C (p.Glu4433Gln)
c.13273G>C (p.Glu4425Gln)
c.13201G>C (p.Glu4401Gln)
c.13165G>C (p.Glu4389Gln)
c.10018G>C (p.Glu3340Gln)
c.9622G>C (p.Glu3208Gln)
7g.152148795C>TCA370093076KMT2Cc.1320G>A
n.2264G>A
c.13303G>A (p.Glu4435Lys)
n.2432G>A
n.8324G>A
c.3705G>A
c.10642G>A (p.Glu3548Lys)
n.4762G>A
c.3777G>A
n.1898G>A
n.1848G>A
c.1549G>A (p.Glu517Lys)
c.8029G>A (p.Glu2677Lys)
c.13132G>A (p.Glu4378Lys)
c.8919G>A
c.3774G>A
c.3708G>A
n.7843G>A
c.8032G>A (p.Glu2678Lys)
c.12697G>A (p.Glu4233Lys)
c.3709G>A
n.2147G>A
c.5813G>A
c.2983G>A (p.Glu995Lys)
n.11014G>A
c.*10652G>A (n.*10652G>A)
c.13348G>A (p.Glu4450Lys)
c.13345G>A (p.Glu4449Lys)
c.13183G>A (p.Glu4395Lys)
c.13276G>A (p.Glu4426Lys)
c.13180G>A (p.Glu4394Lys)
c.13300G>A (p.Glu4434Lys)
c.13228G>A (p.Glu4410Lys)
c.13195G>A (p.Glu4399Lys)
c.13111G>A (p.Glu4371Lys)
c.12433G>A (p.Glu4145Lys)
c.10894G>A (p.Glu3632Lys)
c.13315G>A (p.Glu4439Lys)
c.13297G>A (p.Glu4433Lys)
c.13273G>A (p.Glu4425Lys)
c.13201G>A (p.Glu4401Lys)
c.13165G>A (p.Glu4389Lys)
c.10018G>A (p.Glu3340Lys)
c.9622G>A (p.Glu3208Lys)
dbSNP COSMIC
7g.152148796A>CCA370093079KMT2Cc.1319T>G
n.2263T>G
c.13302T>G (p.Asp4434Glu)
n.2431T>G
n.8323T>G
c.3704T>G
c.10641T>G (p.Asp3547Glu)
n.4761T>G
c.3776T>G
n.1897T>G
n.1847T>G
c.1548T>G (p.Asp516Glu)
c.8028T>G (p.Asp2676Glu)
c.13131T>G (p.Asp4377Glu)
c.8918T>G
c.3773T>G
c.3707T>G
n.7842T>G
c.8031T>G (p.Asp2677Glu)
c.12696T>G (p.Asp4232Glu)
c.3708T>G
n.2146T>G
c.5812T>G
c.2982T>G (p.Asp994Glu)
n.11013T>G
c.*10651T>G (n.*10651T>G)
c.13347T>G (p.Asp4449Glu)
c.13344T>G (p.Asp4448Glu)
c.13182T>G (p.Asp4394Glu)
c.13275T>G (p.Asp4425Glu)
c.13179T>G (p.Asp4393Glu)
c.13299T>G (p.Asp4433Glu)
c.13227T>G (p.Asp4409Glu)
c.13194T>G (p.Asp4398Glu)
c.13110T>G (p.Asp4370Glu)
c.12432T>G (p.Asp4144Glu)
c.10893T>G (p.Asp3631Glu)
c.13314T>G (p.Asp4438Glu)
c.13296T>G (p.Asp4432Glu)
c.13272T>G (p.Asp4424Glu)
c.13200T>G (p.Asp4400Glu)
c.13164T>G (p.Asp4388Glu)
c.10017T>G (p.Asp3339Glu)
c.9621T>G (p.Asp3207Glu)
7g.152148796A>GCA458884728KMT2Cc.1319T>C
n.2263T>C
c.13302T>C (p.Asp4434=)
n.2431T>C
n.8323T>C
c.3704T>C
c.10641T>C (p.Asp3547=)
n.4761T>C
c.3776T>C
n.1897T>C
n.1847T>C
c.1548T>C (p.Asp516=)
c.8028T>C (p.Asp2676=)
c.13131T>C (p.Asp4377=)
c.8918T>C
c.3773T>C
c.3707T>C
n.7842T>C
c.8031T>C (p.Asp2677=)
c.12696T>C (p.Asp4232=)
c.3708T>C
n.2146T>C
c.5812T>C
c.2982T>C (p.Asp994=)
n.11013T>C
c.*10651T>C (n.*10651T>C)
c.13347T>C (p.Asp4449=)
c.13344T>C (p.Asp4448=)
c.13182T>C (p.Asp4394=)
c.13275T>C (p.Asp4425=)
c.13179T>C (p.Asp4393=)
c.13299T>C (p.Asp4433=)
c.13227T>C (p.Asp4409=)
c.13194T>C (p.Asp4398=)
c.13110T>C (p.Asp4370=)
c.12432T>C (p.Asp4144=)
c.10893T>C (p.Asp3631=)
c.13314T>C (p.Asp4438=)
c.13296T>C (p.Asp4432=)
c.13272T>C (p.Asp4424=)
c.13200T>C (p.Asp4400=)
c.13164T>C (p.Asp4388=)
c.10017T>C (p.Asp3339=)
c.9621T>C (p.Asp3207=)
7g.152148796A>TCA370093081KMT2Cc.1319T>A
n.2263T>A
c.13302T>A (p.Asp4434Glu)
n.2431T>A
n.8323T>A
c.3704T>A
c.10641T>A (p.Asp3547Glu)
n.4761T>A
c.3776T>A
n.1897T>A
n.1847T>A
c.1548T>A (p.Asp516Glu)
c.8028T>A (p.Asp2676Glu)
c.13131T>A (p.Asp4377Glu)
c.8918T>A
c.3773T>A
c.3707T>A
n.7842T>A
c.8031T>A (p.Asp2677Glu)
c.12696T>A (p.Asp4232Glu)
c.3708T>A
n.2146T>A
c.5812T>A
c.2982T>A (p.Asp994Glu)
n.11013T>A
c.*10651T>A (n.*10651T>A)
c.13347T>A (p.Asp4449Glu)
c.13344T>A (p.Asp4448Glu)
c.13182T>A (p.Asp4394Glu)
c.13275T>A (p.Asp4425Glu)
c.13179T>A (p.Asp4393Glu)
c.13299T>A (p.Asp4433Glu)
c.13227T>A (p.Asp4409Glu)
c.13194T>A (p.Asp4398Glu)
c.13110T>A (p.Asp4370Glu)
c.12432T>A (p.Asp4144Glu)
c.10893T>A (p.Asp3631Glu)
c.13314T>A (p.Asp4438Glu)
c.13296T>A (p.Asp4432Glu)
c.13272T>A (p.Asp4424Glu)
c.13200T>A (p.Asp4400Glu)
c.13164T>A (p.Asp4388Glu)
c.10017T>A (p.Asp3339Glu)
c.9621T>A (p.Asp3207Glu)
7g.152148797T>ACA370093082KMT2Cc.1318A>T
n.2262A>T
c.13301A>T (p.Asp4434Val)
n.2430A>T
n.8322A>T
c.3703A>T
c.10640A>T (p.Asp3547Val)
n.4760A>T
c.3775A>T
n.1896A>T
n.1846A>T
c.1547A>T (p.Asp516Val)
c.8027A>T (p.Asp2676Val)
c.13130A>T (p.Asp4377Val)
c.8917A>T
c.3772A>T
c.3706A>T
n.7841A>T
c.8030A>T (p.Asp2677Val)
c.12695A>T (p.Asp4232Val)
c.3707A>T
n.2145A>T
c.5811A>T
c.2981A>T (p.Asp994Val)
n.11012A>T
c.*10650A>T (n.*10650A>T)
c.13346A>T (p.Asp4449Val)
c.13343A>T (p.Asp4448Val)
c.13181A>T (p.Asp4394Val)
c.13274A>T (p.Asp4425Val)
c.13178A>T (p.Asp4393Val)
c.13298A>T (p.Asp4433Val)
c.13226A>T (p.Asp4409Val)
c.13193A>T (p.Asp4398Val)
c.13109A>T (p.Asp4370Val)
c.12431A>T (p.Asp4144Val)
c.10892A>T (p.Asp3631Val)
c.13313A>T (p.Asp4438Val)
c.13295A>T (p.Asp4432Val)
c.13271A>T (p.Asp4424Val)
c.13199A>T (p.Asp4400Val)
c.13163A>T (p.Asp4388Val)
c.10016A>T (p.Asp3339Val)
c.9620A>T (p.Asp3207Val)
7g.152148797T>CCA370093084KMT2Cc.1318A>G
n.2262A>G
c.13301A>G (p.Asp4434Gly)
n.2430A>G
n.8322A>G
c.3703A>G
c.10640A>G (p.Asp3547Gly)
n.4760A>G
c.3775A>G
n.1896A>G
n.1846A>G
c.1547A>G (p.Asp516Gly)
c.8027A>G (p.Asp2676Gly)
c.13130A>G (p.Asp4377Gly)
c.8917A>G
c.3772A>G
c.3706A>G
n.7841A>G
c.8030A>G (p.Asp2677Gly)
c.12695A>G (p.Asp4232Gly)
c.3707A>G
n.2145A>G
c.5811A>G
c.2981A>G (p.Asp994Gly)
n.11012A>G
c.*10650A>G (n.*10650A>G)
c.13346A>G (p.Asp4449Gly)
c.13343A>G (p.Asp4448Gly)
c.13181A>G (p.Asp4394Gly)
c.13274A>G (p.Asp4425Gly)
c.13178A>G (p.Asp4393Gly)
c.13298A>G (p.Asp4433Gly)
c.13226A>G (p.Asp4409Gly)
c.13193A>G (p.Asp4398Gly)
c.13109A>G (p.Asp4370Gly)
c.12431A>G (p.Asp4144Gly)
c.10892A>G (p.Asp3631Gly)
c.13313A>G (p.Asp4438Gly)
c.13295A>G (p.Asp4432Gly)
c.13271A>G (p.Asp4424Gly)
c.13199A>G (p.Asp4400Gly)
c.13163A>G (p.Asp4388Gly)
c.10016A>G (p.Asp3339Gly)
c.9620A>G (p.Asp3207Gly)
7g.152148797T>GCA370093085KMT2Cc.1318A>C
n.2262A>C
c.13301A>C (p.Asp4434Ala)
n.2430A>C
n.8322A>C
c.3703A>C
c.10640A>C (p.Asp3547Ala)
n.4760A>C
c.3775A>C
n.1896A>C
n.1846A>C
c.1547A>C (p.Asp516Ala)
c.8027A>C (p.Asp2676Ala)
c.13130A>C (p.Asp4377Ala)
c.8917A>C
c.3772A>C
c.3706A>C
n.7841A>C
c.8030A>C (p.Asp2677Ala)
c.12695A>C (p.Asp4232Ala)
c.3707A>C
n.2145A>C
c.5811A>C
c.2981A>C (p.Asp994Ala)
n.11012A>C
c.*10650A>C (n.*10650A>C)
c.13346A>C (p.Asp4449Ala)
c.13343A>C (p.Asp4448Ala)
c.13181A>C (p.Asp4394Ala)
c.13274A>C (p.Asp4425Ala)
c.13178A>C (p.Asp4393Ala)
c.13298A>C (p.Asp4433Ala)
c.13226A>C (p.Asp4409Ala)
c.13193A>C (p.Asp4398Ala)
c.13109A>C (p.Asp4370Ala)
c.12431A>C (p.Asp4144Ala)
c.10892A>C (p.Asp3631Ala)
c.13313A>C (p.Asp4438Ala)
c.13295A>C (p.Asp4432Ala)
c.13271A>C (p.Asp4424Ala)
c.13199A>C (p.Asp4400Ala)
c.13163A>C (p.Asp4388Ala)
c.10016A>C (p.Asp3339Ala)
c.9620A>C (p.Asp3207Ala)
7g.152148798C>ACA370093087KMT2Cc.1317G>T
n.2261G>T
c.13300G>T (p.Asp4434Tyr)
n.2429G>T
n.8321G>T
c.3702G>T
c.10639G>T (p.Asp3547Tyr)
n.4759G>T
c.3774G>T
n.1895G>T
n.1845G>T
c.1546G>T (p.Asp516Tyr)
c.8026G>T (p.Asp2676Tyr)
c.13129G>T (p.Asp4377Tyr)
c.8916G>T
c.3771G>T
c.3705G>T
n.7840G>T
c.8029G>T (p.Asp2677Tyr)
c.12694G>T (p.Asp4232Tyr)
c.3706G>T
n.2144G>T
c.5810G>T
c.2980G>T (p.Asp994Tyr)
n.11011G>T
c.*10649G>T (n.*10649G>T)
c.13345G>T (p.Asp4449Tyr)
c.13342G>T (p.Asp4448Tyr)
c.13180G>T (p.Asp4394Tyr)
c.13273G>T (p.Asp4425Tyr)
c.13177G>T (p.Asp4393Tyr)
c.13297G>T (p.Asp4433Tyr)
c.13225G>T (p.Asp4409Tyr)
c.13192G>T (p.Asp4398Tyr)
c.13108G>T (p.Asp4370Tyr)
c.12430G>T (p.Asp4144Tyr)
c.10891G>T (p.Asp3631Tyr)
c.13312G>T (p.Asp4438Tyr)
c.13294G>T (p.Asp4432Tyr)
c.13270G>T (p.Asp4424Tyr)
c.13198G>T (p.Asp4400Tyr)
c.13162G>T (p.Asp4388Tyr)
c.10015G>T (p.Asp3339Tyr)
c.9619G>T (p.Asp3207Tyr)
7g.152148798C=CA1752986356KMT2Cc.1317G=
n.2261G=
c.13300G= (p.Asp4434=)
n.2429G=
n.8321G=
c.3702G=
c.10639G= (p.Asp3547=)
n.4759G=
c.3774G=
n.1895G=
n.1845G=
c.1546G= (p.Asp516=)
c.8026G= (p.Asp2676=)
c.13129G= (p.Asp4377=)
c.8916G=
c.3771G=
c.3705G=
n.7840G=
c.8029G= (p.Asp2677=)
c.12694G= (p.Asp4232=)
c.3706G=
n.2144G=
c.5810G=
c.2980G= (p.Asp994=)
n.11011G=
c.*10649G= (n.*10649G=)
c.13345G= (p.Asp4449=)
c.13342G= (p.Asp4448=)
c.13180G= (p.Asp4394=)
c.13273G= (p.Asp4425=)
c.13177G= (p.Asp4393=)
c.13297G= (p.Asp4433=)
c.13225G= (p.Asp4409=)
c.13192G= (p.Asp4398=)
c.13108G= (p.Asp4370=)
c.12430G= (p.Asp4144=)
c.10891G= (p.Asp3631=)
c.13312G= (p.Asp4438=)
c.13294G= (p.Asp4432=)
c.13270G= (p.Asp4424=)
c.13198G= (p.Asp4400=)
c.13162G= (p.Asp4388=)
c.10015G= (p.Asp3339=)
c.9619G= (p.Asp3207=)
7g.152148798C>GCA4578666KMT2Cc.1317G>C
n.2261G>C
c.13300G>C (p.Asp4434His)
n.2429G>C
n.8321G>C
c.3702G>C
c.10639G>C (p.Asp3547His)
n.4759G>C
c.3774G>C
n.1895G>C
n.1845G>C
c.1546G>C (p.Asp516His)
c.8026G>C (p.Asp2676His)
c.13129G>C (p.Asp4377His)
c.8916G>C
c.3771G>C
c.3705G>C
n.7840G>C
c.8029G>C (p.Asp2677His)
c.12694G>C (p.Asp4232His)
c.3706G>C
n.2144G>C
c.5810G>C
c.2980G>C (p.Asp994His)
n.11011G>C
c.*10649G>C (n.*10649G>C)
c.13345G>C (p.Asp4449His)
c.13342G>C (p.Asp4448His)
c.13180G>C (p.Asp4394His)
c.13273G>C (p.Asp4425His)
c.13177G>C (p.Asp4393His)
c.13297G>C (p.Asp4433His)
c.13225G>C (p.Asp4409His)
c.13192G>C (p.Asp4398His)
c.13108G>C (p.Asp4370His)
c.12430G>C (p.Asp4144His)
c.10891G>C (p.Asp3631His)
c.13312G>C (p.Asp4438His)
c.13294G>C (p.Asp4432His)
c.13270G>C (p.Asp4424His)
c.13198G>C (p.Asp4400His)
c.13162G>C (p.Asp4388His)
c.10015G>C (p.Asp3339His)
c.9619G>C (p.Asp3207His)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.152148798C>TCA370093089KMT2Cc.1317G>A
n.2261G>A
c.13300G>A (p.Asp4434Asn)
n.2429G>A
n.8321G>A
c.3702G>A
c.10639G>A (p.Asp3547Asn)
n.4759G>A
c.3774G>A
n.1895G>A
n.1845G>A
c.1546G>A (p.Asp516Asn)
c.8026G>A (p.Asp2676Asn)
c.13129G>A (p.Asp4377Asn)
c.8916G>A
c.3771G>A
c.3705G>A
n.7840G>A
c.8029G>A (p.Asp2677Asn)
c.12694G>A (p.Asp4232Asn)
c.3706G>A
n.2144G>A
c.5810G>A
c.2980G>A (p.Asp994Asn)
n.11011G>A
c.*10649G>A (n.*10649G>A)
c.13345G>A (p.Asp4449Asn)
c.13342G>A (p.Asp4448Asn)
c.13180G>A (p.Asp4394Asn)
c.13273G>A (p.Asp4425Asn)
c.13177G>A (p.Asp4393Asn)
c.13297G>A (p.Asp4433Asn)
c.13225G>A (p.Asp4409Asn)
c.13192G>A (p.Asp4398Asn)
c.13108G>A (p.Asp4370Asn)
c.12430G>A (p.Asp4144Asn)
c.10891G>A (p.Asp3631Asn)
c.13312G>A (p.Asp4438Asn)
c.13294G>A (p.Asp4432Asn)
c.13270G>A (p.Asp4424Asn)
c.13198G>A (p.Asp4400Asn)
c.13162G>A (p.Asp4388Asn)
c.10015G>A (p.Asp3339Asn)
c.9619G>A (p.Asp3207Asn)
dbSNP
7g.152148799C>ACA370093090KMT2Cc.1316G>T
n.2260G>T
c.13299G>T (p.Glu4433Asp)
n.2428G>T
n.8320G>T
c.3701G>T
c.10638G>T (p.Glu3546Asp)
n.4758G>T
c.3773G>T
n.1894G>T
n.1844G>T
c.1545G>T (p.Glu515Asp)
c.8025G>T (p.Glu2675Asp)
c.13128G>T (p.Glu4376Asp)
c.8915G>T
c.3770G>T
c.3704G>T
n.7839G>T
c.8028G>T (p.Glu2676Asp)
c.12693G>T (p.Glu4231Asp)
c.3705G>T
n.2143G>T
c.5809G>T
c.2979G>T (p.Glu993Asp)
n.11010G>T
c.*10648G>T (n.*10648G>T)
c.13344G>T (p.Glu4448Asp)
c.13341G>T (p.Glu4447Asp)
c.13179G>T (p.Glu4393Asp)
c.13272G>T (p.Glu4424Asp)
c.13176G>T (p.Glu4392Asp)
c.13296G>T (p.Glu4432Asp)
c.13224G>T (p.Glu4408Asp)
c.13191G>T (p.Glu4397Asp)
c.13107G>T (p.Glu4369Asp)
c.12429G>T (p.Glu4143Asp)
c.10890G>T (p.Glu3630Asp)
c.13311G>T (p.Glu4437Asp)
c.13293G>T (p.Glu4431Asp)
c.13269G>T (p.Glu4423Asp)
c.13197G>T (p.Glu4399Asp)
c.13161G>T (p.Glu4387Asp)
c.10014G>T (p.Glu3338Asp)
c.9618G>T (p.Glu3206Asp)
7g.152148799C>GCA370093092KMT2Cc.1316G>C
n.2260G>C
c.13299G>C (p.Glu4433Asp)
n.2428G>C
n.8320G>C
c.3701G>C
c.10638G>C (p.Glu3546Asp)
n.4758G>C
c.3773G>C
n.1894G>C
n.1844G>C
c.1545G>C (p.Glu515Asp)
c.8025G>C (p.Glu2675Asp)
c.13128G>C (p.Glu4376Asp)
c.8915G>C
c.3770G>C
c.3704G>C
n.7839G>C
c.8028G>C (p.Glu2676Asp)
c.12693G>C (p.Glu4231Asp)
c.3705G>C
n.2143G>C
c.5809G>C
c.2979G>C (p.Glu993Asp)
n.11010G>C
c.*10648G>C (n.*10648G>C)
c.13344G>C (p.Glu4448Asp)
c.13341G>C (p.Glu4447Asp)
c.13179G>C (p.Glu4393Asp)
c.13272G>C (p.Glu4424Asp)
c.13176G>C (p.Glu4392Asp)
c.13296G>C (p.Glu4432Asp)
c.13224G>C (p.Glu4408Asp)
c.13191G>C (p.Glu4397Asp)
c.13107G>C (p.Glu4369Asp)
c.12429G>C (p.Glu4143Asp)
c.10890G>C (p.Glu3630Asp)
c.13311G>C (p.Glu4437Asp)
c.13293G>C (p.Glu4431Asp)
c.13269G>C (p.Glu4423Asp)
c.13197G>C (p.Glu4399Asp)
c.13161G>C (p.Glu4387Asp)
c.10014G>C (p.Glu3338Asp)
c.9618G>C (p.Glu3206Asp)
7g.152148799C>TCA458884737KMT2Cc.1316G>A
n.2260G>A
c.13299G>A (p.Glu4433=)
n.2428G>A
n.8320G>A
c.3701G>A
c.10638G>A (p.Glu3546=)
n.4758G>A
c.3773G>A
n.1894G>A
n.1844G>A
c.1545G>A (p.Glu515=)
c.8025G>A (p.Glu2675=)
c.13128G>A (p.Glu4376=)
c.8915G>A
c.3770G>A
c.3704G>A
n.7839G>A
c.8028G>A (p.Glu2676=)
c.12693G>A (p.Glu4231=)
c.3705G>A
n.2143G>A
c.5809G>A
c.2979G>A (p.Glu993=)
n.11010G>A
c.*10648G>A (n.*10648G>A)
c.13344G>A (p.Glu4448=)
c.13341G>A (p.Glu4447=)
c.13179G>A (p.Glu4393=)
c.13272G>A (p.Glu4424=)
c.13176G>A (p.Glu4392=)
c.13296G>A (p.Glu4432=)
c.13224G>A (p.Glu4408=)
c.13191G>A (p.Glu4397=)
c.13107G>A (p.Glu4369=)
c.12429G>A (p.Glu4143=)
c.10890G>A (p.Glu3630=)
c.13311G>A (p.Glu4437=)
c.13293G>A (p.Glu4431=)
c.13269G>A (p.Glu4423=)
c.13197G>A (p.Glu4399=)
c.13161G>A (p.Glu4387=)
c.10014G>A (p.Glu3338=)
c.9618G>A (p.Glu3206=)
7g.152148800T>ACA370093094KMT2Cc.1315A>T
n.2259A>T
c.13298A>T (p.Glu4433Val)
n.2427A>T
n.8319A>T
c.3700A>T
c.10637A>T (p.Glu3546Val)
n.4757A>T
c.3772A>T
n.1893A>T
n.1843A>T
c.1544A>T (p.Glu515Val)
c.8024A>T (p.Glu2675Val)
c.13127A>T (p.Glu4376Val)
c.8914A>T
c.3769A>T
c.3703A>T
n.7838A>T
c.8027A>T (p.Glu2676Val)
c.12692A>T (p.Glu4231Val)
c.3704A>T
n.2142A>T
c.5808A>T
c.2978A>T (p.Glu993Val)
n.11009A>T
c.*10647A>T (n.*10647A>T)
c.13343A>T (p.Glu4448Val)
c.13340A>T (p.Glu4447Val)
c.13178A>T (p.Glu4393Val)
c.13271A>T (p.Glu4424Val)
c.13175A>T (p.Glu4392Val)
c.13295A>T (p.Glu4432Val)
c.13223A>T (p.Glu4408Val)
c.13190A>T (p.Glu4397Val)
c.13106A>T (p.Glu4369Val)
c.12428A>T (p.Glu4143Val)
c.10889A>T (p.Glu3630Val)
c.13310A>T (p.Glu4437Val)
c.13292A>T (p.Glu4431Val)
c.13268A>T (p.Glu4423Val)
c.13196A>T (p.Glu4399Val)
c.13160A>T (p.Glu4387Val)
c.10013A>T (p.Glu3338Val)
c.9617A>T (p.Glu3206Val)
7g.152148800T>CCA370093096KMT2Cc.1315A>G
n.2259A>G
c.13298A>G (p.Glu4433Gly)
n.2427A>G
n.8319A>G
c.3700A>G
c.10637A>G (p.Glu3546Gly)
n.4757A>G
c.3772A>G
n.1893A>G
n.1843A>G
c.1544A>G (p.Glu515Gly)
c.8024A>G (p.Glu2675Gly)
c.13127A>G (p.Glu4376Gly)
c.8914A>G
c.3769A>G
c.3703A>G
n.7838A>G
c.8027A>G (p.Glu2676Gly)
c.12692A>G (p.Glu4231Gly)
c.3704A>G
n.2142A>G
c.5808A>G
c.2978A>G (p.Glu993Gly)
n.11009A>G
c.*10647A>G (n.*10647A>G)
c.13343A>G (p.Glu4448Gly)
c.13340A>G (p.Glu4447Gly)
c.13178A>G (p.Glu4393Gly)
c.13271A>G (p.Glu4424Gly)
c.13175A>G (p.Glu4392Gly)
c.13295A>G (p.Glu4432Gly)
c.13223A>G (p.Glu4408Gly)
c.13190A>G (p.Glu4397Gly)
c.13106A>G (p.Glu4369Gly)
c.12428A>G (p.Glu4143Gly)
c.10889A>G (p.Glu3630Gly)
c.13310A>G (p.Glu4437Gly)
c.13292A>G (p.Glu4431Gly)
c.13268A>G (p.Glu4423Gly)
c.13196A>G (p.Glu4399Gly)
c.13160A>G (p.Glu4387Gly)
c.10013A>G (p.Glu3338Gly)
c.9617A>G (p.Glu3206Gly)
7g.152148800T>GCA370093093KMT2Cc.1315A>C
n.2259A>C
c.13298A>C (p.Glu4433Ala)
n.2427A>C
n.8319A>C
c.3700A>C
c.10637A>C (p.Glu3546Ala)
n.4757A>C
c.3772A>C
n.1893A>C
n.1843A>C
c.1544A>C (p.Glu515Ala)
c.8024A>C (p.Glu2675Ala)
c.13127A>C (p.Glu4376Ala)
c.8914A>C
c.3769A>C
c.3703A>C
n.7838A>C
c.8027A>C (p.Glu2676Ala)
c.12692A>C (p.Glu4231Ala)
c.3704A>C
n.2142A>C
c.5808A>C
c.2978A>C (p.Glu993Ala)
n.11009A>C
c.*10647A>C (n.*10647A>C)
c.13343A>C (p.Glu4448Ala)
c.13340A>C (p.Glu4447Ala)
c.13178A>C (p.Glu4393Ala)
c.13271A>C (p.Glu4424Ala)
c.13175A>C (p.Glu4392Ala)
c.13295A>C (p.Glu4432Ala)
c.13223A>C (p.Glu4408Ala)
c.13190A>C (p.Glu4397Ala)
c.13106A>C (p.Glu4369Ala)
c.12428A>C (p.Glu4143Ala)
c.10889A>C (p.Glu3630Ala)
c.13310A>C (p.Glu4437Ala)
c.13292A>C (p.Glu4431Ala)
c.13268A>C (p.Glu4423Ala)
c.13196A>C (p.Glu4399Ala)
c.13160A>C (p.Glu4387Ala)
c.10013A>C (p.Glu3338Ala)
c.9617A>C (p.Glu3206Ala)
dbSNP gnomAD v2 gnomAD v4
7g.152148800T=CA1752986365KMT2Cc.1315A=
n.2259A=
c.13298A= (p.Glu4433=)
n.2427A=
n.8319A=
c.3700A=
c.10637A= (p.Glu3546=)
n.4757A=
c.3772A=
n.1893A=
n.1843A=
c.1544A= (p.Glu515=)
c.8024A= (p.Glu2675=)
c.13127A= (p.Glu4376=)
c.8914A=
c.3769A=
c.3703A=
n.7838A=
c.8027A= (p.Glu2676=)
c.12692A= (p.Glu4231=)
c.3704A=
n.2142A=
c.5808A=
c.2978A= (p.Glu993=)
n.11009A=
c.*10647A= (n.*10647A=)
c.13343A= (p.Glu4448=)
c.13340A= (p.Glu4447=)
c.13178A= (p.Glu4393=)
c.13271A= (p.Glu4424=)
c.13175A= (p.Glu4392=)
c.13295A= (p.Glu4432=)
c.13223A= (p.Glu4408=)
c.13190A= (p.Glu4397=)
c.13106A= (p.Glu4369=)
c.12428A= (p.Glu4143=)
c.10889A= (p.Glu3630=)
c.13310A= (p.Glu4437=)
c.13292A= (p.Glu4431=)
c.13268A= (p.Glu4423=)
c.13196A= (p.Glu4399=)
c.13160A= (p.Glu4387=)
c.10013A= (p.Glu3338=)
c.9617A= (p.Glu3206=)
7g.152148801C>ACA370093098KMT2Cc.1314G>T
n.2258G>T
c.13297G>T (p.Glu4433Ter)
n.2426G>T
n.8318G>T
c.3699G>T
c.10636G>T (p.Glu3546Ter)
n.4756G>T
c.3771G>T
n.1892G>T
n.1842G>T
c.1543G>T (p.Glu515Ter)
c.8023G>T (p.Glu2675Ter)
c.13126G>T (p.Glu4376Ter)
c.8913G>T
c.3768G>T
c.3702G>T
n.7837G>T
c.8026G>T (p.Glu2676Ter)
c.12691G>T (p.Glu4231Ter)
c.3703G>T
n.2141G>T
c.5807G>T
c.2977G>T (p.Glu993Ter)
n.11008G>T
c.*10646G>T (n.*10646G>T)
c.13342G>T (p.Glu4448Ter)
c.13339G>T (p.Glu4447Ter)
c.13177G>T (p.Glu4393Ter)
c.13270G>T (p.Glu4424Ter)
c.13174G>T (p.Glu4392Ter)
c.13294G>T (p.Glu4432Ter)
c.13222G>T (p.Glu4408Ter)
c.13189G>T (p.Glu4397Ter)
c.13105G>T (p.Glu4369Ter)
c.12427G>T (p.Glu4143Ter)
c.10888G>T (p.Glu3630Ter)
c.13309G>T (p.Glu4437Ter)
c.13291G>T (p.Glu4431Ter)
c.13267G>T (p.Glu4423Ter)
c.13195G>T (p.Glu4399Ter)
c.13159G>T (p.Glu4387Ter)
c.10012G>T (p.Glu3338Ter)
c.9616G>T (p.Glu3206Ter)
7g.152148801C=CA1752986370KMT2Cc.1314G=
n.2258G=
c.13297G= (p.Glu4433=)
n.2426G=
n.8318G=
c.3699G=
c.10636G= (p.Glu3546=)
n.4756G=
c.3771G=
n.1892G=
n.1842G=
c.1543G= (p.Glu515=)
c.8023G= (p.Glu2675=)
c.13126G= (p.Glu4376=)
c.8913G=
c.3768G=
c.3702G=
n.7837G=
c.8026G= (p.Glu2676=)
c.12691G= (p.Glu4231=)
c.3703G=
n.2141G=
c.5807G=
c.2977G= (p.Glu993=)
n.11008G=
c.*10646G= (n.*10646G=)
c.13342G= (p.Glu4448=)
c.13339G= (p.Glu4447=)
c.13177G= (p.Glu4393=)
c.13270G= (p.Glu4424=)
c.13174G= (p.Glu4392=)
c.13294G= (p.Glu4432=)
c.13222G= (p.Glu4408=)
c.13189G= (p.Glu4397=)
c.13105G= (p.Glu4369=)
c.12427G= (p.Glu4143=)
c.10888G= (p.Glu3630=)
c.13309G= (p.Glu4437=)
c.13291G= (p.Glu4431=)
c.13267G= (p.Glu4423=)
c.13195G= (p.Glu4399=)
c.13159G= (p.Glu4387=)
c.10012G= (p.Glu3338=)
c.9616G= (p.Glu3206=)
7g.152148801C>GCA370093100KMT2Cc.1314G>C
n.2258G>C
c.13297G>C (p.Glu4433Gln)
n.2426G>C
n.8318G>C
c.3699G>C
c.10636G>C (p.Glu3546Gln)
n.4756G>C
c.3771G>C
n.1892G>C
n.1842G>C
c.1543G>C (p.Glu515Gln)
c.8023G>C (p.Glu2675Gln)
c.13126G>C (p.Glu4376Gln)
c.8913G>C
c.3768G>C
c.3702G>C
n.7837G>C
c.8026G>C (p.Glu2676Gln)
c.12691G>C (p.Glu4231Gln)
c.3703G>C
n.2141G>C
c.5807G>C
c.2977G>C (p.Glu993Gln)
n.11008G>C
c.*10646G>C (n.*10646G>C)
c.13342G>C (p.Glu4448Gln)
c.13339G>C (p.Glu4447Gln)
c.13177G>C (p.Glu4393Gln)
c.13270G>C (p.Glu4424Gln)
c.13174G>C (p.Glu4392Gln)
c.13294G>C (p.Glu4432Gln)
c.13222G>C (p.Glu4408Gln)
c.13189G>C (p.Glu4397Gln)
c.13105G>C (p.Glu4369Gln)
c.12427G>C (p.Glu4143Gln)
c.10888G>C (p.Glu3630Gln)
c.13309G>C (p.Glu4437Gln)
c.13291G>C (p.Glu4431Gln)
c.13267G>C (p.Glu4423Gln)
c.13195G>C (p.Glu4399Gln)
c.13159G>C (p.Glu4387Gln)
c.10012G>C (p.Glu3338Gln)
c.9616G>C (p.Glu3206Gln)
7g.152148801C>TCA370093101KMT2Cc.1314G>A
n.2258G>A
c.13297G>A (p.Glu4433Lys)
n.2426G>A
n.8318G>A
c.3699G>A
c.10636G>A (p.Glu3546Lys)
n.4756G>A
c.3771G>A
n.1892G>A
n.1842G>A
c.1543G>A (p.Glu515Lys)
c.8023G>A (p.Glu2675Lys)
c.13126G>A (p.Glu4376Lys)
c.8913G>A
c.3768G>A
c.3702G>A
n.7837G>A
c.8026G>A (p.Glu2676Lys)
c.12691G>A (p.Glu4231Lys)
c.3703G>A
n.2141G>A
c.5807G>A
c.2977G>A (p.Glu993Lys)
n.11008G>A
c.*10646G>A (n.*10646G>A)
c.13342G>A (p.Glu4448Lys)
c.13339G>A (p.Glu4447Lys)
c.13177G>A (p.Glu4393Lys)
c.13270G>A (p.Glu4424Lys)
c.13174G>A (p.Glu4392Lys)
c.13294G>A (p.Glu4432Lys)
c.13222G>A (p.Glu4408Lys)
c.13189G>A (p.Glu4397Lys)
c.13105G>A (p.Glu4369Lys)
c.12427G>A (p.Glu4143Lys)
c.10888G>A (p.Glu3630Lys)
c.13309G>A (p.Glu4437Lys)
c.13291G>A (p.Glu4431Lys)
c.13267G>A (p.Glu4423Lys)
c.13195G>A (p.Glu4399Lys)
c.13159G>A (p.Glu4387Lys)
c.10012G>A (p.Glu3338Lys)
c.9616G>A (p.Glu3206Lys)
dbSNP
7g.152148802A>CCA370093102KMT2Cc.1313T>G
n.2257T>G
c.13296T>G (p.Cys4432Trp)
n.2425T>G
n.8317T>G
c.3698T>G
c.10635T>G (p.Cys3545Trp)
n.4755T>G
c.3770T>G
n.1891T>G
n.1841T>G
c.1542T>G (p.Cys514Trp)
c.8022T>G (p.Cys2674Trp)
c.13125T>G (p.Cys4375Trp)
c.8912T>G
c.3767T>G
c.3701T>G
n.7836T>G
c.8025T>G (p.Cys2675Trp)
c.12690T>G (p.Cys4230Trp)
c.3702T>G
n.2140T>G
c.5806T>G
c.2976T>G (p.Cys992Trp)
n.11007T>G
c.*10645T>G (n.*10645T>G)
c.13341T>G (p.Cys4447Trp)
c.13338T>G (p.Cys4446Trp)
c.13176T>G (p.Cys4392Trp)
c.13269T>G (p.Cys4423Trp)
c.13173T>G (p.Cys4391Trp)
c.13293T>G (p.Cys4431Trp)
c.13221T>G (p.Cys4407Trp)
c.13188T>G (p.Cys4396Trp)
c.13104T>G (p.Cys4368Trp)
c.12426T>G (p.Cys4142Trp)
c.10887T>G (p.Cys3629Trp)
c.13308T>G (p.Cys4436Trp)
c.13290T>G (p.Cys4430Trp)
c.13266T>G (p.Cys4422Trp)
c.13194T>G (p.Cys4398Trp)
c.13158T>G (p.Cys4386Trp)
c.10011T>G (p.Cys3337Trp)
c.9615T>G (p.Cys3205Trp)
7g.152148802A>GCA458884742KMT2Cc.1313T>C
n.2257T>C
c.13296T>C (p.Cys4432=)
n.2425T>C
n.8317T>C
c.3698T>C
c.10635T>C (p.Cys3545=)
n.4755T>C
c.3770T>C
n.1891T>C
n.1841T>C
c.1542T>C (p.Cys514=)
c.8022T>C (p.Cys2674=)
c.13125T>C (p.Cys4375=)
c.8912T>C
c.3767T>C
c.3701T>C
n.7836T>C
c.8025T>C (p.Cys2675=)
c.12690T>C (p.Cys4230=)
c.3702T>C
n.2140T>C
c.5806T>C
c.2976T>C (p.Cys992=)
n.11007T>C
c.*10645T>C (n.*10645T>C)
c.13341T>C (p.Cys4447=)
c.13338T>C (p.Cys4446=)
c.13176T>C (p.Cys4392=)
c.13269T>C (p.Cys4423=)
c.13173T>C (p.Cys4391=)
c.13293T>C (p.Cys4431=)
c.13221T>C (p.Cys4407=)
c.13188T>C (p.Cys4396=)
c.13104T>C (p.Cys4368=)
c.12426T>C (p.Cys4142=)
c.10887T>C (p.Cys3629=)
c.13308T>C (p.Cys4436=)
c.13290T>C (p.Cys4430=)
c.13266T>C (p.Cys4422=)
c.13194T>C (p.Cys4398=)
c.13158T>C (p.Cys4386=)
c.10011T>C (p.Cys3337=)
c.9615T>C (p.Cys3205=)
7g.152148802A>TCA370093103KMT2Cc.1313T>A
n.2257T>A
c.13296T>A (p.Cys4432Ter)
n.2425T>A
n.8317T>A
c.3698T>A
c.10635T>A (p.Cys3545Ter)
n.4755T>A
c.3770T>A
n.1891T>A
n.1841T>A
c.1542T>A (p.Cys514Ter)
c.8022T>A (p.Cys2674Ter)
c.13125T>A (p.Cys4375Ter)
c.8912T>A
c.3767T>A
c.3701T>A
n.7836T>A
c.8025T>A (p.Cys2675Ter)
c.12690T>A (p.Cys4230Ter)
c.3702T>A
n.2140T>A
c.5806T>A
c.2976T>A (p.Cys992Ter)
n.11007T>A
c.*10645T>A (n.*10645T>A)
c.13341T>A (p.Cys4447Ter)
c.13338T>A (p.Cys4446Ter)
c.13176T>A (p.Cys4392Ter)
c.13269T>A (p.Cys4423Ter)
c.13173T>A (p.Cys4391Ter)
c.13293T>A (p.Cys4431Ter)
c.13221T>A (p.Cys4407Ter)
c.13188T>A (p.Cys4396Ter)
c.13104T>A (p.Cys4368Ter)
c.12426T>A (p.Cys4142Ter)
c.10887T>A (p.Cys3629Ter)
c.13308T>A (p.Cys4436Ter)
c.13290T>A (p.Cys4430Ter)
c.13266T>A (p.Cys4422Ter)
c.13194T>A (p.Cys4398Ter)
c.13158T>A (p.Cys4386Ter)
c.10011T>A (p.Cys3337Ter)
c.9615T>A (p.Cys3205Ter)
7g.152148803C>ACA370093105KMT2Cc.1312G>T
n.2256G>T
c.13295G>T (p.Cys4432Phe)
n.2424G>T
n.8316G>T
c.3697G>T
c.10634G>T (p.Cys3545Phe)
n.4754G>T
c.3769G>T
n.1890G>T
n.1840G>T
c.1541G>T (p.Cys514Phe)
c.8021G>T (p.Cys2674Phe)
c.13124G>T (p.Cys4375Phe)
c.8911G>T
c.3766G>T
c.3700G>T
n.7835G>T
c.8024G>T (p.Cys2675Phe)
c.12689G>T (p.Cys4230Phe)
c.3701G>T
n.2139G>T
c.5805G>T
c.2975G>T (p.Cys992Phe)
n.11006G>T
c.*10644G>T (n.*10644G>T)
c.13340G>T (p.Cys4447Phe)
c.13337G>T (p.Cys4446Phe)
c.13175G>T (p.Cys4392Phe)
c.13268G>T (p.Cys4423Phe)
c.13172G>T (p.Cys4391Phe)
c.13292G>T (p.Cys4431Phe)
c.13220G>T (p.Cys4407Phe)
c.13187G>T (p.Cys4396Phe)
c.13103G>T (p.Cys4368Phe)
c.12425G>T (p.Cys4142Phe)
c.10886G>T (p.Cys3629Phe)
c.13307G>T (p.Cys4436Phe)
c.13289G>T (p.Cys4430Phe)
c.13265G>T (p.Cys4422Phe)
c.13193G>T (p.Cys4398Phe)
c.13157G>T (p.Cys4386Phe)
c.10010G>T (p.Cys3337Phe)
c.9614G>T (p.Cys3205Phe)
7g.152148803C>GCA370093107KMT2Cc.1312G>C
n.2256G>C
c.13295G>C (p.Cys4432Ser)
n.2424G>C
n.8316G>C
c.3697G>C
c.10634G>C (p.Cys3545Ser)
n.4754G>C
c.3769G>C
n.1890G>C
n.1840G>C
c.1541G>C (p.Cys514Ser)
c.8021G>C (p.Cys2674Ser)
c.13124G>C (p.Cys4375Ser)
c.8911G>C
c.3766G>C
c.3700G>C
n.7835G>C
c.8024G>C (p.Cys2675Ser)
c.12689G>C (p.Cys4230Ser)
c.3701G>C
n.2139G>C
c.5805G>C
c.2975G>C (p.Cys992Ser)
n.11006G>C
c.*10644G>C (n.*10644G>C)
c.13340G>C (p.Cys4447Ser)
c.13337G>C (p.Cys4446Ser)
c.13175G>C (p.Cys4392Ser)
c.13268G>C (p.Cys4423Ser)
c.13172G>C (p.Cys4391Ser)
c.13292G>C (p.Cys4431Ser)
c.13220G>C (p.Cys4407Ser)
c.13187G>C (p.Cys4396Ser)
c.13103G>C (p.Cys4368Ser)
c.12425G>C (p.Cys4142Ser)
c.10886G>C (p.Cys3629Ser)
c.13307G>C (p.Cys4436Ser)
c.13289G>C (p.Cys4430Ser)
c.13265G>C (p.Cys4422Ser)
c.13193G>C (p.Cys4398Ser)
c.13157G>C (p.Cys4386Ser)
c.10010G>C (p.Cys3337Ser)
c.9614G>C (p.Cys3205Ser)
7g.152148803C>TCA370093108KMT2Cc.1312G>A
n.2256G>A
c.13295G>A (p.Cys4432Tyr)
n.2424G>A
n.8316G>A
c.3697G>A
c.10634G>A (p.Cys3545Tyr)
n.4754G>A
c.3769G>A
n.1890G>A
n.1840G>A
c.1541G>A (p.Cys514Tyr)
c.8021G>A (p.Cys2674Tyr)
c.13124G>A (p.Cys4375Tyr)
c.8911G>A
c.3766G>A
c.3700G>A
n.7835G>A
c.8024G>A (p.Cys2675Tyr)
c.12689G>A (p.Cys4230Tyr)
c.3701G>A
n.2139G>A
c.5805G>A
c.2975G>A (p.Cys992Tyr)
n.11006G>A
c.*10644G>A (n.*10644G>A)
c.13340G>A (p.Cys4447Tyr)
c.13337G>A (p.Cys4446Tyr)
c.13175G>A (p.Cys4392Tyr)
c.13268G>A (p.Cys4423Tyr)
c.13172G>A (p.Cys4391Tyr)
c.13292G>A (p.Cys4431Tyr)
c.13220G>A (p.Cys4407Tyr)
c.13187G>A (p.Cys4396Tyr)
c.13103G>A (p.Cys4368Tyr)
c.12425G>A (p.Cys4142Tyr)
c.10886G>A (p.Cys3629Tyr)
c.13307G>A (p.Cys4436Tyr)
c.13289G>A (p.Cys4430Tyr)
c.13265G>A (p.Cys4422Tyr)
c.13193G>A (p.Cys4398Tyr)
c.13157G>A (p.Cys4386Tyr)
c.10010G>A (p.Cys3337Tyr)
c.9614G>A (p.Cys3205Tyr)
7g.152148804A=CA1752986373KMT2Cc.1311T=
n.2255T=
c.13294T= (p.Cys4432=)
n.2423T=
n.8315T=
c.3696T=
c.10633T= (p.Cys3545=)
n.4753T=
c.3768T=
n.1889T=
n.1839T=
c.1540T= (p.Cys514=)
c.8020T= (p.Cys2674=)
c.13123T= (p.Cys4375=)
c.8910T=
c.3765T=
c.3699T=
n.7834T=
c.8023T= (p.Cys2675=)
c.12688T= (p.Cys4230=)
c.3700T=
n.2138T=
c.5804T=
c.2974T= (p.Cys992=)
n.11005T=
c.*10643T= (n.*10643T=)
c.13339T= (p.Cys4447=)
c.13336T= (p.Cys4446=)
c.13174T= (p.Cys4392=)
c.13267T= (p.Cys4423=)
c.13171T= (p.Cys4391=)
c.13291T= (p.Cys4431=)
c.13219T= (p.Cys4407=)
c.13186T= (p.Cys4396=)
c.13102T= (p.Cys4368=)
c.12424T= (p.Cys4142=)
c.10885T= (p.Cys3629=)
c.13306T= (p.Cys4436=)
c.13288T= (p.Cys4430=)
c.13264T= (p.Cys4422=)
c.13192T= (p.Cys4398=)
c.13156T= (p.Cys4386=)
c.10009T= (p.Cys3337=)
c.9613T= (p.Cys3205=)
7g.152148804A>CCA370093110KMT2Cc.1311T>G
n.2255T>G
c.13294T>G (p.Cys4432Gly)
n.2423T>G
n.8315T>G
c.3696T>G
c.10633T>G (p.Cys3545Gly)
n.4753T>G
c.3768T>G
n.1889T>G
n.1839T>G
c.1540T>G (p.Cys514Gly)
c.8020T>G (p.Cys2674Gly)
c.13123T>G (p.Cys4375Gly)
c.8910T>G
c.3765T>G
c.3699T>G
n.7834T>G
c.8023T>G (p.Cys2675Gly)
c.12688T>G (p.Cys4230Gly)
c.3700T>G
n.2138T>G
c.5804T>G
c.2974T>G (p.Cys992Gly)
n.11005T>G
c.*10643T>G (n.*10643T>G)
c.13339T>G (p.Cys4447Gly)
c.13336T>G (p.Cys4446Gly)
c.13174T>G (p.Cys4392Gly)
c.13267T>G (p.Cys4423Gly)
c.13171T>G (p.Cys4391Gly)
c.13291T>G (p.Cys4431Gly)
c.13219T>G (p.Cys4407Gly)
c.13186T>G (p.Cys4396Gly)
c.13102T>G (p.Cys4368Gly)
c.12424T>G (p.Cys4142Gly)
c.10885T>G (p.Cys3629Gly)
c.13306T>G (p.Cys4436Gly)
c.13288T>G (p.Cys4430Gly)
c.13264T>G (p.Cys4422Gly)
c.13192T>G (p.Cys4398Gly)
c.13156T>G (p.Cys4386Gly)
c.10009T>G (p.Cys3337Gly)
c.9613T>G (p.Cys3205Gly)
dbSNP
7g.152148804A>GCA370093111KMT2Cc.1311T>C
n.2255T>C
c.13294T>C (p.Cys4432Arg)
n.2423T>C
n.8315T>C
c.3696T>C
c.10633T>C (p.Cys3545Arg)
n.4753T>C
c.3768T>C
n.1889T>C
n.1839T>C
c.1540T>C (p.Cys514Arg)
c.8020T>C (p.Cys2674Arg)
c.13123T>C (p.Cys4375Arg)
c.8910T>C
c.3765T>C
c.3699T>C
n.7834T>C
c.8023T>C (p.Cys2675Arg)
c.12688T>C (p.Cys4230Arg)
c.3700T>C
n.2138T>C
c.5804T>C
c.2974T>C (p.Cys992Arg)
n.11005T>C
c.*10643T>C (n.*10643T>C)
c.13339T>C (p.Cys4447Arg)
c.13336T>C (p.Cys4446Arg)
c.13174T>C (p.Cys4392Arg)
c.13267T>C (p.Cys4423Arg)
c.13171T>C (p.Cys4391Arg)
c.13291T>C (p.Cys4431Arg)
c.13219T>C (p.Cys4407Arg)
c.13186T>C (p.Cys4396Arg)
c.13102T>C (p.Cys4368Arg)
c.12424T>C (p.Cys4142Arg)
c.10885T>C (p.Cys3629Arg)
c.13306T>C (p.Cys4436Arg)
c.13288T>C (p.Cys4430Arg)
c.13264T>C (p.Cys4422Arg)
c.13192T>C (p.Cys4398Arg)
c.13156T>C (p.Cys4386Arg)
c.10009T>C (p.Cys3337Arg)
c.9613T>C (p.Cys3205Arg)
7g.152148804A>TCA370093113KMT2Cc.1311T>A
n.2255T>A
c.13294T>A (p.Cys4432Ser)
n.2423T>A
n.8315T>A
c.3696T>A
c.10633T>A (p.Cys3545Ser)
n.4753T>A
c.3768T>A
n.1889T>A
n.1839T>A
c.1540T>A (p.Cys514Ser)
c.8020T>A (p.Cys2674Ser)
c.13123T>A (p.Cys4375Ser)
c.8910T>A
c.3765T>A
c.3699T>A
n.7834T>A
c.8023T>A (p.Cys2675Ser)
c.12688T>A (p.Cys4230Ser)
c.3700T>A
n.2138T>A
c.5804T>A
c.2974T>A (p.Cys992Ser)
n.11005T>A
c.*10643T>A (n.*10643T>A)
c.13339T>A (p.Cys4447Ser)
c.13336T>A (p.Cys4446Ser)
c.13174T>A (p.Cys4392Ser)
c.13267T>A (p.Cys4423Ser)
c.13171T>A (p.Cys4391Ser)
c.13291T>A (p.Cys4431Ser)
c.13219T>A (p.Cys4407Ser)
c.13186T>A (p.Cys4396Ser)
c.13102T>A (p.Cys4368Ser)
c.12424T>A (p.Cys4142Ser)
c.10885T>A (p.Cys3629Ser)
c.13306T>A (p.Cys4436Ser)
c.13288T>A (p.Cys4430Ser)
c.13264T>A (p.Cys4422Ser)
c.13192T>A (p.Cys4398Ser)
c.13156T>A (p.Cys4386Ser)
c.10009T>A (p.Cys3337Ser)
c.9613T>A (p.Cys3205Ser)
7g.152148805dupCA2579070418KMT2Cc.1311dup
n.2255dup
c.13294dup (p.Cys4432LeufsTer2)
n.2423dup
n.8315dup
c.3696dup
c.10633dup (p.Cys3545LeufsTer2)
n.4753dup
c.3768dup
n.1889dup
n.1839dup
c.1540dup (p.Cys514LeufsTer2)
c.8020dup (p.Cys2674LeufsTer2)
c.13123dup (p.Cys4375LeufsTer2)
c.8910dup
c.3765dup
c.3699dup
n.7834dup
c.8023dup (p.Cys2675LeufsTer2)
c.12688dup (p.Cys4230LeufsTer2)
c.3700dup
n.2138dup
c.5804dup
c.2974dup (p.Cys992LeufsTer2)
n.11005dup
c.*10643dup (n.*10643dup)
c.13339dup (p.Cys4447LeufsTer2)
c.13336dup (p.Cys4446LeufsTer2)
c.13174dup (p.Cys4392LeufsTer2)
c.13267dup (p.Cys4423LeufsTer2)
c.13171dup (p.Cys4391LeufsTer2)
c.13291dup (p.Cys4431LeufsTer2)
c.13219dup (p.Cys4407LeufsTer2)
c.13186dup (p.Cys4396LeufsTer2)
c.13102dup (p.Cys4368LeufsTer2)
c.12424dup (p.Cys4142LeufsTer2)
c.10885dup (p.Cys3629LeufsTer2)
c.13306dup (p.Cys4436LeufsTer2)
c.13288dup (p.Cys4430LeufsTer2)
c.13264dup (p.Cys4422LeufsTer2)
c.13192dup (p.Cys4398LeufsTer2)
c.13156dup (p.Cys4386LeufsTer2)
c.10009dup (p.Cys3337LeufsTer2)
c.9613dup (p.Cys3205LeufsTer2)
7g.152148805A=CA1752986376KMT2Cc.1310T=
n.2254T=
c.13293T= (p.Pro4431=)
n.2422T=
n.8314T=
c.3695T=
c.10632T= (p.Pro3544=)
n.4752T=
c.3767T=
n.1888T=
n.1838T=
c.1539T= (p.Pro513=)
c.8019T= (p.Pro2673=)
c.13122T= (p.Pro4374=)
c.8909T=
c.3764T=
c.3698T=
n.7833T=
c.8022T= (p.Pro2674=)
c.12687T= (p.Pro4229=)
c.3699T=
n.2137T=
c.5803T=
c.2973T= (p.Pro991=)
n.11004T=
c.*10642T= (n.*10642T=)
c.13338T= (p.Pro4446=)
c.13335T= (p.Pro4445=)
c.13173T= (p.Pro4391=)
c.13266T= (p.Pro4422=)
c.13170T= (p.Pro4390=)
c.13290T= (p.Pro4430=)
c.13218T= (p.Pro4406=)
c.13185T= (p.Pro4395=)
c.13101T= (p.Pro4367=)
c.12423T= (p.Pro4141=)
c.10884T= (p.Pro3628=)
c.13305T= (p.Pro4435=)
c.13287T= (p.Pro4429=)
c.13263T= (p.Pro4421=)
c.13191T= (p.Pro4397=)
c.13155T= (p.Pro4385=)
c.10008T= (p.Pro3336=)
c.9612T= (p.Pro3204=)
7g.152148805A>CCA458884749KMT2Cc.1310T>G
n.2254T>G
c.13293T>G (p.Pro4431=)
n.2422T>G
n.8314T>G
c.3695T>G
c.10632T>G (p.Pro3544=)
n.4752T>G
c.3767T>G
n.1888T>G
n.1838T>G
c.1539T>G (p.Pro513=)
c.8019T>G (p.Pro2673=)
c.13122T>G (p.Pro4374=)
c.8909T>G
c.3764T>G
c.3698T>G
n.7833T>G
c.8022T>G (p.Pro2674=)
c.12687T>G (p.Pro4229=)
c.3699T>G
n.2137T>G
c.5803T>G
c.2973T>G (p.Pro991=)
n.11004T>G
c.*10642T>G (n.*10642T>G)
c.13338T>G (p.Pro4446=)
c.13335T>G (p.Pro4445=)
c.13173T>G (p.Pro4391=)
c.13266T>G (p.Pro4422=)
c.13170T>G (p.Pro4390=)
c.13290T>G (p.Pro4430=)
c.13218T>G (p.Pro4406=)
c.13185T>G (p.Pro4395=)
c.13101T>G (p.Pro4367=)
c.12423T>G (p.Pro4141=)
c.10884T>G (p.Pro3628=)
c.13305T>G (p.Pro4435=)
c.13287T>G (p.Pro4429=)
c.13263T>G (p.Pro4421=)
c.13191T>G (p.Pro4397=)
c.13155T>G (p.Pro4385=)
c.10008T>G (p.Pro3336=)
c.9612T>G (p.Pro3204=)
gnomAD v4
7g.152148805A>GCA4578667KMT2Cc.1310T>C
n.2254T>C
c.13293T>C (p.Pro4431=)
n.2422T>C
n.8314T>C
c.3695T>C
c.10632T>C (p.Pro3544=)
n.4752T>C
c.3767T>C
n.1888T>C
n.1838T>C
c.1539T>C (p.Pro513=)
c.8019T>C (p.Pro2673=)
c.13122T>C (p.Pro4374=)
c.8909T>C
c.3764T>C
c.3698T>C
n.7833T>C
c.8022T>C (p.Pro2674=)
c.12687T>C (p.Pro4229=)
c.3699T>C
n.2137T>C
c.5803T>C
c.2973T>C (p.Pro991=)
n.11004T>C
c.*10642T>C (n.*10642T>C)
c.13338T>C (p.Pro4446=)
c.13335T>C (p.Pro4445=)
c.13173T>C (p.Pro4391=)
c.13266T>C (p.Pro4422=)
c.13170T>C (p.Pro4390=)
c.13290T>C (p.Pro4430=)
c.13218T>C (p.Pro4406=)
c.13185T>C (p.Pro4395=)
c.13101T>C (p.Pro4367=)
c.12423T>C (p.Pro4141=)
c.10884T>C (p.Pro3628=)
c.13305T>C (p.Pro4435=)
c.13287T>C (p.Pro4429=)
c.13263T>C (p.Pro4421=)
c.13191T>C (p.Pro4397=)
c.13155T>C (p.Pro4385=)
c.10008T>C (p.Pro3336=)
c.9612T>C (p.Pro3204=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148805A>TCA458884750KMT2Cc.1310T>A
n.2254T>A
c.13293T>A (p.Pro4431=)
n.2422T>A
n.8314T>A
c.3695T>A
c.10632T>A (p.Pro3544=)
n.4752T>A
c.3767T>A
n.1888T>A
n.1838T>A
c.1539T>A (p.Pro513=)
c.8019T>A (p.Pro2673=)
c.13122T>A (p.Pro4374=)
c.8909T>A
c.3764T>A
c.3698T>A
n.7833T>A
c.8022T>A (p.Pro2674=)
c.12687T>A (p.Pro4229=)
c.3699T>A
n.2137T>A
c.5803T>A
c.2973T>A (p.Pro991=)
n.11004T>A
c.*10642T>A (n.*10642T>A)
c.13338T>A (p.Pro4446=)
c.13335T>A (p.Pro4445=)
c.13173T>A (p.Pro4391=)
c.13266T>A (p.Pro4422=)
c.13170T>A (p.Pro4390=)
c.13290T>A (p.Pro4430=)
c.13218T>A (p.Pro4406=)
c.13185T>A (p.Pro4395=)
c.13101T>A (p.Pro4367=)
c.12423T>A (p.Pro4141=)
c.10884T>A (p.Pro3628=)
c.13305T>A (p.Pro4435=)
c.13287T>A (p.Pro4429=)
c.13263T>A (p.Pro4421=)
c.13191T>A (p.Pro4397=)
c.13155T>A (p.Pro4385=)
c.10008T>A (p.Pro3336=)
c.9612T>A (p.Pro3204=)
7g.152148806G>ACA370093117KMT2Cc.1309C>T
n.2253C>T
c.13292C>T (p.Pro4431Leu)
n.2421C>T
n.8313C>T
c.3694C>T
c.10631C>T (p.Pro3544Leu)
n.4751C>T
c.3766C>T
n.1887C>T
n.1837C>T
c.1538C>T (p.Pro513Leu)
c.8018C>T (p.Pro2673Leu)
c.13121C>T (p.Pro4374Leu)
c.8908C>T
c.3763C>T
c.3697C>T
n.7832C>T
c.8021C>T (p.Pro2674Leu)
c.12686C>T (p.Pro4229Leu)
c.3698C>T
n.2136C>T
c.5802C>T
c.2972C>T (p.Pro991Leu)
n.11003C>T
c.*10641C>T (n.*10641C>T)
c.13337C>T (p.Pro4446Leu)
c.13334C>T (p.Pro4445Leu)
c.13172C>T (p.Pro4391Leu)
c.13265C>T (p.Pro4422Leu)
c.13169C>T (p.Pro4390Leu)
c.13289C>T (p.Pro4430Leu)
c.13217C>T (p.Pro4406Leu)
c.13184C>T (p.Pro4395Leu)
c.13100C>T (p.Pro4367Leu)
c.12422C>T (p.Pro4141Leu)
c.10883C>T (p.Pro3628Leu)
c.13304C>T (p.Pro4435Leu)
c.13286C>T (p.Pro4429Leu)
c.13262C>T (p.Pro4421Leu)
c.13190C>T (p.Pro4397Leu)
c.13154C>T (p.Pro4385Leu)
c.10007C>T (p.Pro3336Leu)
c.9611C>T (p.Pro3204Leu)
dbSNP
7g.152148806G>CCA370093118KMT2Cc.1309C>G
n.2253C>G
c.13292C>G (p.Pro4431Arg)
n.2421C>G
n.8313C>G
c.3694C>G
c.10631C>G (p.Pro3544Arg)
n.4751C>G
c.3766C>G
n.1887C>G
n.1837C>G
c.1538C>G (p.Pro513Arg)
c.8018C>G (p.Pro2673Arg)
c.13121C>G (p.Pro4374Arg)
c.8908C>G
c.3763C>G
c.3697C>G
n.7832C>G
c.8021C>G (p.Pro2674Arg)
c.12686C>G (p.Pro4229Arg)
c.3698C>G
n.2136C>G
c.5802C>G
c.2972C>G (p.Pro991Arg)
n.11003C>G
c.*10641C>G (n.*10641C>G)
c.13337C>G (p.Pro4446Arg)
c.13334C>G (p.Pro4445Arg)
c.13172C>G (p.Pro4391Arg)
c.13265C>G (p.Pro4422Arg)
c.13169C>G (p.Pro4390Arg)
c.13289C>G (p.Pro4430Arg)
c.13217C>G (p.Pro4406Arg)
c.13184C>G (p.Pro4395Arg)
c.13100C>G (p.Pro4367Arg)
c.12422C>G (p.Pro4141Arg)
c.10883C>G (p.Pro3628Arg)
c.13304C>G (p.Pro4435Arg)
c.13286C>G (p.Pro4429Arg)
c.13262C>G (p.Pro4421Arg)
c.13190C>G (p.Pro4397Arg)
c.13154C>G (p.Pro4385Arg)
c.10007C>G (p.Pro3336Arg)
c.9611C>G (p.Pro3204Arg)
7g.152148806G>TCA370093116KMT2Cc.1309C>A
n.2253C>A
c.13292C>A (p.Pro4431His)
n.2421C>A
n.8313C>A
c.3694C>A
c.10631C>A (p.Pro3544His)
n.4751C>A
c.3766C>A
n.1887C>A
n.1837C>A
c.1538C>A (p.Pro513His)
c.8018C>A (p.Pro2673His)
c.13121C>A (p.Pro4374His)
c.8908C>A
c.3763C>A
c.3697C>A
n.7832C>A
c.8021C>A (p.Pro2674His)
c.12686C>A (p.Pro4229His)
c.3698C>A
n.2136C>A
c.5802C>A
c.2972C>A (p.Pro991His)
n.11003C>A
c.*10641C>A (n.*10641C>A)
c.13337C>A (p.Pro4446His)
c.13334C>A (p.Pro4445His)
c.13172C>A (p.Pro4391His)
c.13265C>A (p.Pro4422His)
c.13169C>A (p.Pro4390His)
c.13289C>A (p.Pro4430His)
c.13217C>A (p.Pro4406His)
c.13184C>A (p.Pro4395His)
c.13100C>A (p.Pro4367His)
c.12422C>A (p.Pro4141His)
c.10883C>A (p.Pro3628His)
c.13304C>A (p.Pro4435His)
c.13286C>A (p.Pro4429His)
c.13262C>A (p.Pro4421His)
c.13190C>A (p.Pro4397His)
c.13154C>A (p.Pro4385His)
c.10007C>A (p.Pro3336His)
c.9611C>A (p.Pro3204His)
7g.152148807G>ACA4578668KMT2Cc.1308C>T
n.2252C>T
c.13291C>T (p.Pro4431Ser)
n.2420C>T
n.8312C>T
c.3693C>T
c.10630C>T (p.Pro3544Ser)
n.4750C>T
c.3765C>T
n.1886C>T
n.1836C>T
c.1537C>T (p.Pro513Ser)
c.8017C>T (p.Pro2673Ser)
c.13120C>T (p.Pro4374Ser)
c.8907C>T
c.3762C>T
c.3696C>T
n.7831C>T
c.8020C>T (p.Pro2674Ser)
c.12685C>T (p.Pro4229Ser)
c.3697C>T
n.2135C>T
c.5801C>T
c.2971C>T (p.Pro991Ser)
n.11002C>T
c.*10640C>T (n.*10640C>T)
c.13336C>T (p.Pro4446Ser)
c.13333C>T (p.Pro4445Ser)
c.13171C>T (p.Pro4391Ser)
c.13264C>T (p.Pro4422Ser)
c.13168C>T (p.Pro4390Ser)
c.13288C>T (p.Pro4430Ser)
c.13216C>T (p.Pro4406Ser)
c.13183C>T (p.Pro4395Ser)
c.13099C>T (p.Pro4367Ser)
c.12421C>T (p.Pro4141Ser)
c.10882C>T (p.Pro3628Ser)
c.13303C>T (p.Pro4435Ser)
c.13285C>T (p.Pro4429Ser)
c.13261C>T (p.Pro4421Ser)
c.13189C>T (p.Pro4397Ser)
c.13153C>T (p.Pro4385Ser)
c.10006C>T (p.Pro3336Ser)
c.9610C>T (p.Pro3204Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148807G>CCA370093119KMT2Cc.1308C>G
n.2252C>G
c.13291C>G (p.Pro4431Ala)
n.2420C>G
n.8312C>G
c.3693C>G
c.10630C>G (p.Pro3544Ala)
n.4750C>G
c.3765C>G
n.1886C>G
n.1836C>G
c.1537C>G (p.Pro513Ala)
c.8017C>G (p.Pro2673Ala)
c.13120C>G (p.Pro4374Ala)
c.8907C>G
c.3762C>G
c.3696C>G
n.7831C>G
c.8020C>G (p.Pro2674Ala)
c.12685C>G (p.Pro4229Ala)
c.3697C>G
n.2135C>G
c.5801C>G
c.2971C>G (p.Pro991Ala)
n.11002C>G
c.*10640C>G (n.*10640C>G)
c.13336C>G (p.Pro4446Ala)
c.13333C>G (p.Pro4445Ala)
c.13171C>G (p.Pro4391Ala)
c.13264C>G (p.Pro4422Ala)
c.13168C>G (p.Pro4390Ala)
c.13288C>G (p.Pro4430Ala)
c.13216C>G (p.Pro4406Ala)
c.13183C>G (p.Pro4395Ala)
c.13099C>G (p.Pro4367Ala)
c.12421C>G (p.Pro4141Ala)
c.10882C>G (p.Pro3628Ala)
c.13303C>G (p.Pro4435Ala)
c.13285C>G (p.Pro4429Ala)
c.13261C>G (p.Pro4421Ala)
c.13189C>G (p.Pro4397Ala)
c.13153C>G (p.Pro4385Ala)
c.10006C>G (p.Pro3336Ala)
c.9610C>G (p.Pro3204Ala)
7g.152148807G=CA1752986377KMT2Cc.1308C=
n.2252C=
c.13291C= (p.Pro4431=)
n.2420C=
n.8312C=
c.3693C=
c.10630C= (p.Pro3544=)
n.4750C=
c.3765C=
n.1886C=
n.1836C=
c.1537C= (p.Pro513=)
c.8017C= (p.Pro2673=)
c.13120C= (p.Pro4374=)
c.8907C=
c.3762C=
c.3696C=
n.7831C=
c.8020C= (p.Pro2674=)
c.12685C= (p.Pro4229=)
c.3697C=
n.2135C=
c.5801C=
c.2971C= (p.Pro991=)
n.11002C=
c.*10640C= (n.*10640C=)
c.13336C= (p.Pro4446=)
c.13333C= (p.Pro4445=)
c.13171C= (p.Pro4391=)
c.13264C= (p.Pro4422=)
c.13168C= (p.Pro4390=)
c.13288C= (p.Pro4430=)
c.13216C= (p.Pro4406=)
c.13183C= (p.Pro4395=)
c.13099C= (p.Pro4367=)
c.12421C= (p.Pro4141=)
c.10882C= (p.Pro3628=)
c.13303C= (p.Pro4435=)
c.13285C= (p.Pro4429=)
c.13261C= (p.Pro4421=)
c.13189C= (p.Pro4397=)
c.13153C= (p.Pro4385=)
c.10006C= (p.Pro3336=)
c.9610C= (p.Pro3204=)
7g.152148807G>TCA370093121KMT2Cc.1308C>A
n.2252C>A
c.13291C>A (p.Pro4431Thr)
n.2420C>A
n.8312C>A
c.3693C>A
c.10630C>A (p.Pro3544Thr)
n.4750C>A
c.3765C>A
n.1886C>A
n.1836C>A
c.1537C>A (p.Pro513Thr)
c.8017C>A (p.Pro2673Thr)
c.13120C>A (p.Pro4374Thr)
c.8907C>A
c.3762C>A
c.3696C>A
n.7831C>A
c.8020C>A (p.Pro2674Thr)
c.12685C>A (p.Pro4229Thr)
c.3697C>A
n.2135C>A
c.5801C>A
c.2971C>A (p.Pro991Thr)
n.11002C>A
c.*10640C>A (n.*10640C>A)
c.13336C>A (p.Pro4446Thr)
c.13333C>A (p.Pro4445Thr)
c.13171C>A (p.Pro4391Thr)
c.13264C>A (p.Pro4422Thr)
c.13168C>A (p.Pro4390Thr)
c.13288C>A (p.Pro4430Thr)
c.13216C>A (p.Pro4406Thr)
c.13183C>A (p.Pro4395Thr)
c.13099C>A (p.Pro4367Thr)
c.12421C>A (p.Pro4141Thr)
c.10882C>A (p.Pro3628Thr)
c.13303C>A (p.Pro4435Thr)
c.13285C>A (p.Pro4429Thr)
c.13261C>A (p.Pro4421Thr)
c.13189C>A (p.Pro4397Thr)
c.13153C>A (p.Pro4385Thr)
c.10006C>A (p.Pro3336Thr)
c.9610C>A (p.Pro3204Thr)
gnomAD v4
7g.152148808T>ACA458884757KMT2Cc.1307A>T
n.2251A>T
c.13290A>T (p.Pro4430=)
n.2419A>T
n.8311A>T
c.3692A>T
c.10629A>T (p.Pro3543=)
n.4749A>T
c.3764A>T
n.1885A>T
n.1835A>T
c.1536A>T (p.Pro512=)
c.8016A>T (p.Pro2672=)
c.13119A>T (p.Pro4373=)
c.8906A>T
c.3761A>T
c.3695A>T
n.7830A>T
c.8019A>T (p.Pro2673=)
c.12684A>T (p.Pro4228=)
c.3696A>T
n.2134A>T
c.5800A>T
c.2970A>T (p.Pro990=)
n.11001A>T
c.*10639A>T (n.*10639A>T)
c.13335A>T (p.Pro4445=)
c.13332A>T (p.Pro4444=)
c.13170A>T (p.Pro4390=)
c.13263A>T (p.Pro4421=)
c.13167A>T (p.Pro4389=)
c.13287A>T (p.Pro4429=)
c.13215A>T (p.Pro4405=)
c.13182A>T (p.Pro4394=)
c.13098A>T (p.Pro4366=)
c.12420A>T (p.Pro4140=)
c.10881A>T (p.Pro3627=)
c.13302A>T (p.Pro4434=)
c.13284A>T (p.Pro4428=)
c.13260A>T (p.Pro4420=)
c.13188A>T (p.Pro4396=)
c.13152A>T (p.Pro4384=)
c.10005A>T (p.Pro3335=)
c.9609A>T (p.Pro3203=)
7g.152148808T>CCA458884758KMT2Cc.1307A>G
n.2251A>G
c.13290A>G (p.Pro4430=)
n.2419A>G
n.8311A>G
c.3692A>G
c.10629A>G (p.Pro3543=)
n.4749A>G
c.3764A>G
n.1885A>G
n.1835A>G
c.1536A>G (p.Pro512=)
c.8016A>G (p.Pro2672=)
c.13119A>G (p.Pro4373=)
c.8906A>G
c.3761A>G
c.3695A>G
n.7830A>G
c.8019A>G (p.Pro2673=)
c.12684A>G (p.Pro4228=)
c.3696A>G
n.2134A>G
c.5800A>G
c.2970A>G (p.Pro990=)
n.11001A>G
c.*10639A>G (n.*10639A>G)
c.13335A>G (p.Pro4445=)
c.13332A>G (p.Pro4444=)
c.13170A>G (p.Pro4390=)
c.13263A>G (p.Pro4421=)
c.13167A>G (p.Pro4389=)
c.13287A>G (p.Pro4429=)
c.13215A>G (p.Pro4405=)
c.13182A>G (p.Pro4394=)
c.13098A>G (p.Pro4366=)
c.12420A>G (p.Pro4140=)
c.10881A>G (p.Pro3627=)
c.13302A>G (p.Pro4434=)
c.13284A>G (p.Pro4428=)
c.13260A>G (p.Pro4420=)
c.13188A>G (p.Pro4396=)
c.13152A>G (p.Pro4384=)
c.10005A>G (p.Pro3335=)
c.9609A>G (p.Pro3203=)
7g.152148808T>GCA458884760KMT2Cc.1307A>C
n.2251A>C
c.13290A>C (p.Pro4430=)
n.2419A>C
n.8311A>C
c.3692A>C
c.10629A>C (p.Pro3543=)
n.4749A>C
c.3764A>C
n.1885A>C
n.1835A>C
c.1536A>C (p.Pro512=)
c.8016A>C (p.Pro2672=)
c.13119A>C (p.Pro4373=)
c.8906A>C
c.3761A>C
c.3695A>C
n.7830A>C
c.8019A>C (p.Pro2673=)
c.12684A>C (p.Pro4228=)
c.3696A>C
n.2134A>C
c.5800A>C
c.2970A>C (p.Pro990=)
n.11001A>C
c.*10639A>C (n.*10639A>C)
c.13335A>C (p.Pro4445=)
c.13332A>C (p.Pro4444=)
c.13170A>C (p.Pro4390=)
c.13263A>C (p.Pro4421=)
c.13167A>C (p.Pro4389=)
c.13287A>C (p.Pro4429=)
c.13215A>C (p.Pro4405=)
c.13182A>C (p.Pro4394=)
c.13098A>C (p.Pro4366=)
c.12420A>C (p.Pro4140=)
c.10881A>C (p.Pro3627=)
c.13302A>C (p.Pro4434=)
c.13284A>C (p.Pro4428=)
c.13260A>C (p.Pro4420=)
c.13188A>C (p.Pro4396=)
c.13152A>C (p.Pro4384=)
c.10005A>C (p.Pro3335=)
c.9609A>C (p.Pro3203=)
7g.152148809G>ACA370093122KMT2Cc.1306C>T
n.2250C>T
c.13289C>T (p.Pro4430Leu)
n.2418C>T
n.8310C>T
c.3691C>T
c.10628C>T (p.Pro3543Leu)
n.4748C>T
c.3763C>T
n.1884C>T
n.1834C>T
c.1535C>T (p.Pro512Leu)
c.8015C>T (p.Pro2672Leu)
c.13118C>T (p.Pro4373Leu)
c.8905C>T
c.3760C>T
c.3694C>T
n.7829C>T
c.8018C>T (p.Pro2673Leu)
c.12683C>T (p.Pro4228Leu)
c.3695C>T
n.2133C>T
c.5799C>T
c.2969C>T (p.Pro990Leu)
n.11000C>T
c.*10638C>T (n.*10638C>T)
c.13334C>T (p.Pro4445Leu)
c.13331C>T (p.Pro4444Leu)
c.13169C>T (p.Pro4390Leu)
c.13262C>T (p.Pro4421Leu)
c.13166C>T (p.Pro4389Leu)
c.13286C>T (p.Pro4429Leu)
c.13214C>T (p.Pro4405Leu)
c.13181C>T (p.Pro4394Leu)
c.13097C>T (p.Pro4366Leu)
c.12419C>T (p.Pro4140Leu)
c.10880C>T (p.Pro3627Leu)
c.13301C>T (p.Pro4434Leu)
c.13283C>T (p.Pro4428Leu)
c.13259C>T (p.Pro4420Leu)
c.13187C>T (p.Pro4396Leu)
c.13151C>T (p.Pro4384Leu)
c.10004C>T (p.Pro3335Leu)
c.9608C>T (p.Pro3203Leu)
gnomAD v4
7g.152148809G>CCA370093124KMT2Cc.1306C>G
n.2250C>G
c.13289C>G (p.Pro4430Arg)
n.2418C>G
n.8310C>G
c.3691C>G
c.10628C>G (p.Pro3543Arg)
n.4748C>G
c.3763C>G
n.1884C>G
n.1834C>G
c.1535C>G (p.Pro512Arg)
c.8015C>G (p.Pro2672Arg)
c.13118C>G (p.Pro4373Arg)
c.8905C>G
c.3760C>G
c.3694C>G
n.7829C>G
c.8018C>G (p.Pro2673Arg)
c.12683C>G (p.Pro4228Arg)
c.3695C>G
n.2133C>G
c.5799C>G
c.2969C>G (p.Pro990Arg)
n.11000C>G
c.*10638C>G (n.*10638C>G)
c.13334C>G (p.Pro4445Arg)
c.13331C>G (p.Pro4444Arg)
c.13169C>G (p.Pro4390Arg)
c.13262C>G (p.Pro4421Arg)
c.13166C>G (p.Pro4389Arg)
c.13286C>G (p.Pro4429Arg)
c.13214C>G (p.Pro4405Arg)
c.13181C>G (p.Pro4394Arg)
c.13097C>G (p.Pro4366Arg)
c.12419C>G (p.Pro4140Arg)
c.10880C>G (p.Pro3627Arg)
c.13301C>G (p.Pro4434Arg)
c.13283C>G (p.Pro4428Arg)
c.13259C>G (p.Pro4420Arg)
c.13187C>G (p.Pro4396Arg)
c.13151C>G (p.Pro4384Arg)
c.10004C>G (p.Pro3335Arg)
c.9608C>G (p.Pro3203Arg)
7g.152148809G>TCA370093125KMT2Cc.1306C>A
n.2250C>A
c.13289C>A (p.Pro4430Gln)
n.2418C>A
n.8310C>A
c.3691C>A
c.10628C>A (p.Pro3543Gln)
n.4748C>A
c.3763C>A
n.1884C>A
n.1834C>A
c.1535C>A (p.Pro512Gln)
c.8015C>A (p.Pro2672Gln)
c.13118C>A (p.Pro4373Gln)
c.8905C>A
c.3760C>A
c.3694C>A
n.7829C>A
c.8018C>A (p.Pro2673Gln)
c.12683C>A (p.Pro4228Gln)
c.3695C>A
n.2133C>A
c.5799C>A
c.2969C>A (p.Pro990Gln)
n.11000C>A
c.*10638C>A (n.*10638C>A)
c.13334C>A (p.Pro4445Gln)
c.13331C>A (p.Pro4444Gln)
c.13169C>A (p.Pro4390Gln)
c.13262C>A (p.Pro4421Gln)
c.13166C>A (p.Pro4389Gln)
c.13286C>A (p.Pro4429Gln)
c.13214C>A (p.Pro4405Gln)
c.13181C>A (p.Pro4394Gln)
c.13097C>A (p.Pro4366Gln)
c.12419C>A (p.Pro4140Gln)
c.10880C>A (p.Pro3627Gln)
c.13301C>A (p.Pro4434Gln)
c.13283C>A (p.Pro4428Gln)
c.13259C>A (p.Pro4420Gln)
c.13187C>A (p.Pro4396Gln)
c.13151C>A (p.Pro4384Gln)
c.10004C>A (p.Pro3335Gln)
c.9608C>A (p.Pro3203Gln)
7g.152148810G>ACA16605296KMT2Cc.1305C>T
n.2249C>T
c.13288C>T (p.Pro4430Ser)
n.2417C>T
n.8309C>T
c.3690C>T
c.10627C>T (p.Pro3543Ser)
n.4747C>T
c.3762C>T
n.1883C>T
n.1833C>T
c.1534C>T (p.Pro512Ser)
c.8014C>T (p.Pro2672Ser)
c.13117C>T (p.Pro4373Ser)
c.8904C>T
c.3759C>T
c.3693C>T
n.7828C>T
c.8017C>T (p.Pro2673Ser)
c.12682C>T (p.Pro4228Ser)
c.3694C>T
n.2132C>T
c.5798C>T
c.2968C>T (p.Pro990Ser)
n.10999C>T
c.*10637C>T (n.*10637C>T)
c.13333C>T (p.Pro4445Ser)
c.13330C>T (p.Pro4444Ser)
c.13168C>T (p.Pro4390Ser)
c.13261C>T (p.Pro4421Ser)
c.13165C>T (p.Pro4389Ser)
c.13285C>T (p.Pro4429Ser)
c.13213C>T (p.Pro4405Ser)
c.13180C>T (p.Pro4394Ser)
c.13096C>T (p.Pro4366Ser)
c.12418C>T (p.Pro4140Ser)
c.10879C>T (p.Pro3627Ser)
c.13300C>T (p.Pro4434Ser)
c.13282C>T (p.Pro4428Ser)
c.13258C>T (p.Pro4420Ser)
c.13186C>T (p.Pro4396Ser)
c.13150C>T (p.Pro4384Ser)
c.10003C>T (p.Pro3335Ser)
c.9607C>T (p.Pro3203Ser)
ClinVar dbSNP
7g.152148810G>CCA370093127KMT2Cc.1305C>G
n.2249C>G
c.13288C>G (p.Pro4430Ala)
n.2417C>G
n.8309C>G
c.3690C>G
c.10627C>G (p.Pro3543Ala)
n.4747C>G
c.3762C>G
n.1883C>G
n.1833C>G
c.1534C>G (p.Pro512Ala)
c.8014C>G (p.Pro2672Ala)
c.13117C>G (p.Pro4373Ala)
c.8904C>G
c.3759C>G
c.3693C>G
n.7828C>G
c.8017C>G (p.Pro2673Ala)
c.12682C>G (p.Pro4228Ala)
c.3694C>G
n.2132C>G
c.5798C>G
c.2968C>G (p.Pro990Ala)
n.10999C>G
c.*10637C>G (n.*10637C>G)
c.13333C>G (p.Pro4445Ala)
c.13330C>G (p.Pro4444Ala)
c.13168C>G (p.Pro4390Ala)
c.13261C>G (p.Pro4421Ala)
c.13165C>G (p.Pro4389Ala)
c.13285C>G (p.Pro4429Ala)
c.13213C>G (p.Pro4405Ala)
c.13180C>G (p.Pro4394Ala)
c.13096C>G (p.Pro4366Ala)
c.12418C>G (p.Pro4140Ala)
c.10879C>G (p.Pro3627Ala)
c.13300C>G (p.Pro4434Ala)
c.13282C>G (p.Pro4428Ala)
c.13258C>G (p.Pro4420Ala)
c.13186C>G (p.Pro4396Ala)
c.13150C>G (p.Pro4384Ala)
c.10003C>G (p.Pro3335Ala)
c.9607C>G (p.Pro3203Ala)
dbSNP
7g.152148810G=CA1752986383KMT2Cc.1305C=
n.2249C=
c.13288C= (p.Pro4430=)
n.2417C=
n.8309C=
c.3690C=
c.10627C= (p.Pro3543=)
n.4747C=
c.3762C=
n.1883C=
n.1833C=
c.1534C= (p.Pro512=)
c.8014C= (p.Pro2672=)
c.13117C= (p.Pro4373=)
c.8904C=
c.3759C=
c.3693C=
n.7828C=
c.8017C= (p.Pro2673=)
c.12682C= (p.Pro4228=)
c.3694C=
n.2132C=
c.5798C=
c.2968C= (p.Pro990=)
n.10999C=
c.*10637C= (n.*10637C=)
c.13333C= (p.Pro4445=)
c.13330C= (p.Pro4444=)
c.13168C= (p.Pro4390=)
c.13261C= (p.Pro4421=)
c.13165C= (p.Pro4389=)
c.13285C= (p.Pro4429=)
c.13213C= (p.Pro4405=)
c.13180C= (p.Pro4394=)
c.13096C= (p.Pro4366=)
c.12418C= (p.Pro4140=)
c.10879C= (p.Pro3627=)
c.13300C= (p.Pro4434=)
c.13282C= (p.Pro4428=)
c.13258C= (p.Pro4420=)
c.13186C= (p.Pro4396=)
c.13150C= (p.Pro4384=)
c.10003C= (p.Pro3335=)
c.9607C= (p.Pro3203=)
7g.152148810G>TCA370093129KMT2Cc.1305C>A
n.2249C>A
c.13288C>A (p.Pro4430Thr)
n.2417C>A
n.8309C>A
c.3690C>A
c.10627C>A (p.Pro3543Thr)
n.4747C>A
c.3762C>A
n.1883C>A
n.1833C>A
c.1534C>A (p.Pro512Thr)
c.8014C>A (p.Pro2672Thr)
c.13117C>A (p.Pro4373Thr)
c.8904C>A
c.3759C>A
c.3693C>A
n.7828C>A
c.8017C>A (p.Pro2673Thr)
c.12682C>A (p.Pro4228Thr)
c.3694C>A
n.2132C>A
c.5798C>A
c.2968C>A (p.Pro990Thr)
n.10999C>A
c.*10637C>A (n.*10637C>A)
c.13333C>A (p.Pro4445Thr)
c.13330C>A (p.Pro4444Thr)
c.13168C>A (p.Pro4390Thr)
c.13261C>A (p.Pro4421Thr)
c.13165C>A (p.Pro4389Thr)
c.13285C>A (p.Pro4429Thr)
c.13213C>A (p.Pro4405Thr)
c.13180C>A (p.Pro4394Thr)
c.13096C>A (p.Pro4366Thr)
c.12418C>A (p.Pro4140Thr)
c.10879C>A (p.Pro3627Thr)
c.13300C>A (p.Pro4434Thr)
c.13282C>A (p.Pro4428Thr)
c.13258C>A (p.Pro4420Thr)
c.13186C>A (p.Pro4396Thr)
c.13150C>A (p.Pro4384Thr)
c.10003C>A (p.Pro3335Thr)
c.9607C>A (p.Pro3203Thr)
7g.152148811T>ACA370093131KMT2Cc.1304A>T
n.2248A>T
c.13287A>T (p.Lys4429Asn)
n.2416A>T
n.8308A>T
c.3689A>T
c.10626A>T (p.Lys3542Asn)
n.4746A>T
c.3761A>T
n.1882A>T
n.1832A>T
c.1533A>T (p.Lys511Asn)
c.8013A>T (p.Lys2671Asn)
c.13116A>T (p.Lys4372Asn)
c.8903A>T
c.3758A>T
c.3692A>T
n.7827A>T
c.8016A>T (p.Lys2672Asn)
c.12681A>T (p.Lys4227Asn)
c.3693A>T
n.2131A>T
c.5797A>T
c.2967A>T (p.Lys989Asn)
n.10998A>T
c.*10636A>T (n.*10636A>T)
c.13332A>T (p.Lys4444Asn)
c.13329A>T (p.Lys4443Asn)
c.13167A>T (p.Lys4389Asn)
c.13260A>T (p.Lys4420Asn)
c.13164A>T (p.Lys4388Asn)
c.13284A>T (p.Lys4428Asn)
c.13212A>T (p.Lys4404Asn)
c.13179A>T (p.Lys4393Asn)
c.13095A>T (p.Lys4365Asn)
c.12417A>T (p.Lys4139Asn)
c.10878A>T (p.Lys3626Asn)
c.13299A>T (p.Lys4433Asn)
c.13281A>T (p.Lys4427Asn)
c.13257A>T (p.Lys4419Asn)
c.13185A>T (p.Lys4395Asn)
c.13149A>T (p.Lys4383Asn)
c.10002A>T (p.Lys3334Asn)
c.9606A>T (p.Lys3202Asn)
7g.152148811T>CCA458884767KMT2Cc.1304A>G
n.2248A>G
c.13287A>G (p.Lys4429=)
n.2416A>G
n.8308A>G
c.3689A>G
c.10626A>G (p.Lys3542=)
n.4746A>G
c.3761A>G
n.1882A>G
n.1832A>G
c.1533A>G (p.Lys511=)
c.8013A>G (p.Lys2671=)
c.13116A>G (p.Lys4372=)
c.8903A>G
c.3758A>G
c.3692A>G
n.7827A>G
c.8016A>G (p.Lys2672=)
c.12681A>G (p.Lys4227=)
c.3693A>G
n.2131A>G
c.5797A>G
c.2967A>G (p.Lys989=)
n.10998A>G
c.*10636A>G (n.*10636A>G)
c.13332A>G (p.Lys4444=)
c.13329A>G (p.Lys4443=)
c.13167A>G (p.Lys4389=)
c.13260A>G (p.Lys4420=)
c.13164A>G (p.Lys4388=)
c.13284A>G (p.Lys4428=)
c.13212A>G (p.Lys4404=)
c.13179A>G (p.Lys4393=)
c.13095A>G (p.Lys4365=)
c.12417A>G (p.Lys4139=)
c.10878A>G (p.Lys3626=)
c.13299A>G (p.Lys4433=)
c.13281A>G (p.Lys4427=)
c.13257A>G (p.Lys4419=)
c.13185A>G (p.Lys4395=)
c.13149A>G (p.Lys4383=)
c.10002A>G (p.Lys3334=)
c.9606A>G (p.Lys3202=)
7g.152148811T>GCA370093132KMT2Cc.1304A>C
n.2248A>C
c.13287A>C (p.Lys4429Asn)
n.2416A>C
n.8308A>C
c.3689A>C
c.10626A>C (p.Lys3542Asn)
n.4746A>C
c.3761A>C
n.1882A>C
n.1832A>C
c.1533A>C (p.Lys511Asn)
c.8013A>C (p.Lys2671Asn)
c.13116A>C (p.Lys4372Asn)
c.8903A>C
c.3758A>C
c.3692A>C
n.7827A>C
c.8016A>C (p.Lys2672Asn)
c.12681A>C (p.Lys4227Asn)
c.3693A>C
n.2131A>C
c.5797A>C
c.2967A>C (p.Lys989Asn)
n.10998A>C
c.*10636A>C (n.*10636A>C)
c.13332A>C (p.Lys4444Asn)
c.13329A>C (p.Lys4443Asn)
c.13167A>C (p.Lys4389Asn)
c.13260A>C (p.Lys4420Asn)
c.13164A>C (p.Lys4388Asn)
c.13284A>C (p.Lys4428Asn)
c.13212A>C (p.Lys4404Asn)
c.13179A>C (p.Lys4393Asn)
c.13095A>C (p.Lys4365Asn)
c.12417A>C (p.Lys4139Asn)
c.10878A>C (p.Lys3626Asn)
c.13299A>C (p.Lys4433Asn)
c.13281A>C (p.Lys4427Asn)
c.13257A>C (p.Lys4419Asn)
c.13185A>C (p.Lys4395Asn)
c.13149A>C (p.Lys4383Asn)
c.10002A>C (p.Lys3334Asn)
c.9606A>C (p.Lys3202Asn)
7g.152148812T>ACA370093133KMT2Cc.1303A>T
n.2247A>T
c.13286A>T (p.Lys4429Ile)
n.2415A>T
n.8307A>T
c.3688A>T
c.10625A>T (p.Lys3542Ile)
n.4745A>T
c.3760A>T
n.1881A>T
n.1831A>T
c.1532A>T (p.Lys511Ile)
c.8012A>T (p.Lys2671Ile)
c.13115A>T (p.Lys4372Ile)
c.8902A>T
c.3757A>T
c.3691A>T
n.7826A>T
c.8015A>T (p.Lys2672Ile)
c.12680A>T (p.Lys4227Ile)
c.3692A>T
n.2130A>T
c.5796A>T
c.2966A>T (p.Lys989Ile)
n.10997A>T
c.*10635A>T (n.*10635A>T)
c.13331A>T (p.Lys4444Ile)
c.13328A>T (p.Lys4443Ile)
c.13166A>T (p.Lys4389Ile)
c.13259A>T (p.Lys4420Ile)
c.13163A>T (p.Lys4388Ile)
c.13283A>T (p.Lys4428Ile)
c.13211A>T (p.Lys4404Ile)
c.13178A>T (p.Lys4393Ile)
c.13094A>T (p.Lys4365Ile)
c.12416A>T (p.Lys4139Ile)
c.10877A>T (p.Lys3626Ile)
c.13298A>T (p.Lys4433Ile)
c.13280A>T (p.Lys4427Ile)
c.13256A>T (p.Lys4419Ile)
c.13184A>T (p.Lys4395Ile)
c.13148A>T (p.Lys4383Ile)
c.10001A>T (p.Lys3334Ile)
c.9605A>T (p.Lys3202Ile)
7g.152148812T>CCA370093134KMT2Cc.1303A>G
n.2247A>G
c.13286A>G (p.Lys4429Arg)
n.2415A>G
n.8307A>G
c.3688A>G
c.10625A>G (p.Lys3542Arg)
n.4745A>G
c.3760A>G
n.1881A>G
n.1831A>G
c.1532A>G (p.Lys511Arg)
c.8012A>G (p.Lys2671Arg)
c.13115A>G (p.Lys4372Arg)
c.8902A>G
c.3757A>G
c.3691A>G
n.7826A>G
c.8015A>G (p.Lys2672Arg)
c.12680A>G (p.Lys4227Arg)
c.3692A>G
n.2130A>G
c.5796A>G
c.2966A>G (p.Lys989Arg)
n.10997A>G
c.*10635A>G (n.*10635A>G)
c.13331A>G (p.Lys4444Arg)
c.13328A>G (p.Lys4443Arg)
c.13166A>G (p.Lys4389Arg)
c.13259A>G (p.Lys4420Arg)
c.13163A>G (p.Lys4388Arg)
c.13283A>G (p.Lys4428Arg)
c.13211A>G (p.Lys4404Arg)
c.13178A>G (p.Lys4393Arg)
c.13094A>G (p.Lys4365Arg)
c.12416A>G (p.Lys4139Arg)
c.10877A>G (p.Lys3626Arg)
c.13298A>G (p.Lys4433Arg)
c.13280A>G (p.Lys4427Arg)
c.13256A>G (p.Lys4419Arg)
c.13184A>G (p.Lys4395Arg)
c.13148A>G (p.Lys4383Arg)
c.10001A>G (p.Lys3334Arg)
c.9605A>G (p.Lys3202Arg)
7g.152148812T>GCA370093136KMT2Cc.1303A>C
n.2247A>C
c.13286A>C (p.Lys4429Thr)
n.2415A>C
n.8307A>C
c.3688A>C
c.10625A>C (p.Lys3542Thr)
n.4745A>C
c.3760A>C
n.1881A>C
n.1831A>C
c.1532A>C (p.Lys511Thr)
c.8012A>C (p.Lys2671Thr)
c.13115A>C (p.Lys4372Thr)
c.8902A>C
c.3757A>C
c.3691A>C
n.7826A>C
c.8015A>C (p.Lys2672Thr)
c.12680A>C (p.Lys4227Thr)
c.3692A>C
n.2130A>C
c.5796A>C
c.2966A>C (p.Lys989Thr)
n.10997A>C
c.*10635A>C (n.*10635A>C)
c.13331A>C (p.Lys4444Thr)
c.13328A>C (p.Lys4443Thr)
c.13166A>C (p.Lys4389Thr)
c.13259A>C (p.Lys4420Thr)
c.13163A>C (p.Lys4388Thr)
c.13283A>C (p.Lys4428Thr)
c.13211A>C (p.Lys4404Thr)
c.13178A>C (p.Lys4393Thr)
c.13094A>C (p.Lys4365Thr)
c.12416A>C (p.Lys4139Thr)
c.10877A>C (p.Lys3626Thr)
c.13298A>C (p.Lys4433Thr)
c.13280A>C (p.Lys4427Thr)
c.13256A>C (p.Lys4419Thr)
c.13184A>C (p.Lys4395Thr)
c.13148A>C (p.Lys4383Thr)
c.10001A>C (p.Lys3334Thr)
c.9605A>C (p.Lys3202Thr)
7g.152148813T>ACA370093138KMT2Cc.1302A>T
n.2246A>T
c.13285A>T (p.Lys4429Ter)
n.2414A>T
n.8306A>T
c.3687A>T
c.10624A>T (p.Lys3542Ter)
n.4744A>T
c.3759A>T
n.1880A>T
n.1830A>T
c.1531A>T (p.Lys511Ter)
c.8011A>T (p.Lys2671Ter)
c.13114A>T (p.Lys4372Ter)
c.8901A>T
c.3756A>T
c.3690A>T
n.7825A>T
c.8014A>T (p.Lys2672Ter)
c.12679A>T (p.Lys4227Ter)
c.3691A>T
n.2129A>T
c.5795A>T
c.2965A>T (p.Lys989Ter)
n.10996A>T
c.*10634A>T (n.*10634A>T)
c.13330A>T (p.Lys4444Ter)
c.13327A>T (p.Lys4443Ter)
c.13165A>T (p.Lys4389Ter)
c.13258A>T (p.Lys4420Ter)
c.13162A>T (p.Lys4388Ter)
c.13282A>T (p.Lys4428Ter)
c.13210A>T (p.Lys4404Ter)
c.13177A>T (p.Lys4393Ter)
c.13093A>T (p.Lys4365Ter)
c.12415A>T (p.Lys4139Ter)
c.10876A>T (p.Lys3626Ter)
c.13297A>T (p.Lys4433Ter)
c.13279A>T (p.Lys4427Ter)
c.13255A>T (p.Lys4419Ter)
c.13183A>T (p.Lys4395Ter)
c.13147A>T (p.Lys4383Ter)
c.10000A>T (p.Lys3334Ter)
c.9604A>T (p.Lys3202Ter)
7g.152148813T>CCA370093140KMT2Cc.1302A>G
n.2246A>G
c.13285A>G (p.Lys4429Glu)
n.2414A>G
n.8306A>G
c.3687A>G
c.10624A>G (p.Lys3542Glu)
n.4744A>G
c.3759A>G
n.1880A>G
n.1830A>G
c.1531A>G (p.Lys511Glu)
c.8011A>G (p.Lys2671Glu)
c.13114A>G (p.Lys4372Glu)
c.8901A>G
c.3756A>G
c.3690A>G
n.7825A>G
c.8014A>G (p.Lys2672Glu)
c.12679A>G (p.Lys4227Glu)
c.3691A>G
n.2129A>G
c.5795A>G
c.2965A>G (p.Lys989Glu)
n.10996A>G
c.*10634A>G (n.*10634A>G)
c.13330A>G (p.Lys4444Glu)
c.13327A>G (p.Lys4443Glu)
c.13165A>G (p.Lys4389Glu)
c.13258A>G (p.Lys4420Glu)
c.13162A>G (p.Lys4388Glu)
c.13282A>G (p.Lys4428Glu)
c.13210A>G (p.Lys4404Glu)
c.13177A>G (p.Lys4393Glu)
c.13093A>G (p.Lys4365Glu)
c.12415A>G (p.Lys4139Glu)
c.10876A>G (p.Lys3626Glu)
c.13297A>G (p.Lys4433Glu)
c.13279A>G (p.Lys4427Glu)
c.13255A>G (p.Lys4419Glu)
c.13183A>G (p.Lys4395Glu)
c.13147A>G (p.Lys4383Glu)
c.10000A>G (p.Lys3334Glu)
c.9604A>G (p.Lys3202Glu)
dbSNP
7g.152148813T>GCA370093139KMT2Cc.1302A>C
n.2246A>C
c.13285A>C (p.Lys4429Gln)
n.2414A>C
n.8306A>C
c.3687A>C
c.10624A>C (p.Lys3542Gln)
n.4744A>C
c.3759A>C
n.1880A>C
n.1830A>C
c.1531A>C (p.Lys511Gln)
c.8011A>C (p.Lys2671Gln)
c.13114A>C (p.Lys4372Gln)
c.8901A>C
c.3756A>C
c.3690A>C
n.7825A>C
c.8014A>C (p.Lys2672Gln)
c.12679A>C (p.Lys4227Gln)
c.3691A>C
n.2129A>C
c.5795A>C
c.2965A>C (p.Lys989Gln)
n.10996A>C
c.*10634A>C (n.*10634A>C)
c.13330A>C (p.Lys4444Gln)
c.13327A>C (p.Lys4443Gln)
c.13165A>C (p.Lys4389Gln)
c.13258A>C (p.Lys4420Gln)
c.13162A>C (p.Lys4388Gln)
c.13282A>C (p.Lys4428Gln)
c.13210A>C (p.Lys4404Gln)
c.13177A>C (p.Lys4393Gln)
c.13093A>C (p.Lys4365Gln)
c.12415A>C (p.Lys4139Gln)
c.10876A>C (p.Lys3626Gln)
c.13297A>C (p.Lys4433Gln)
c.13279A>C (p.Lys4427Gln)
c.13255A>C (p.Lys4419Gln)
c.13183A>C (p.Lys4395Gln)
c.13147A>C (p.Lys4383Gln)
c.10000A>C (p.Lys3334Gln)
c.9604A>C (p.Lys3202Gln)
dbSNP gnomAD v3 gnomAD v4
7g.152148813T=CA1752986392KMT2Cc.1302A=
n.2246A=
c.13285A= (p.Lys4429=)
n.2414A=
n.8306A=
c.3687A=
c.10624A= (p.Lys3542=)
n.4744A=
c.3759A=
n.1880A=
n.1830A=
c.1531A= (p.Lys511=)
c.8011A= (p.Lys2671=)
c.13114A= (p.Lys4372=)
c.8901A=
c.3756A=
c.3690A=
n.7825A=
c.8014A= (p.Lys2672=)
c.12679A= (p.Lys4227=)
c.3691A=
n.2129A=
c.5795A=
c.2965A= (p.Lys989=)
n.10996A=
c.*10634A= (n.*10634A=)
c.13330A= (p.Lys4444=)
c.13327A= (p.Lys4443=)
c.13165A= (p.Lys4389=)
c.13258A= (p.Lys4420=)
c.13162A= (p.Lys4388=)
c.13282A= (p.Lys4428=)
c.13210A= (p.Lys4404=)
c.13177A= (p.Lys4393=)
c.13093A= (p.Lys4365=)
c.12415A= (p.Lys4139=)
c.10876A= (p.Lys3626=)
c.13297A= (p.Lys4433=)
c.13279A= (p.Lys4427=)
c.13255A= (p.Lys4419=)
c.13183A= (p.Lys4395=)
c.13147A= (p.Lys4383=)
c.10000A= (p.Lys3334=)
c.9604A= (p.Lys3202=)
7g.152148814A>CCA370093142KMT2Cc.1301T>G
n.2245T>G
c.13284T>G (p.Phe4428Leu)
n.2413T>G
n.8305T>G
c.3686T>G
c.10623T>G (p.Phe3541Leu)
n.4743T>G
c.3758T>G
n.1879T>G
n.1829T>G
c.1530T>G (p.Phe510Leu)
c.8010T>G (p.Phe2670Leu)
c.13113T>G (p.Phe4371Leu)
c.8900T>G
c.3755T>G
c.3689T>G
n.7824T>G
c.8013T>G (p.Phe2671Leu)
c.12678T>G (p.Phe4226Leu)
c.3690T>G
n.2128T>G
c.5794T>G
c.2964T>G (p.Phe988Leu)
n.10995T>G
c.*10633T>G (n.*10633T>G)
c.13329T>G (p.Phe4443Leu)
c.13326T>G (p.Phe4442Leu)
c.13164T>G (p.Phe4388Leu)
c.13257T>G (p.Phe4419Leu)
c.13161T>G (p.Phe4387Leu)
c.13281T>G (p.Phe4427Leu)
c.13209T>G (p.Phe4403Leu)
c.13176T>G (p.Phe4392Leu)
c.13092T>G (p.Phe4364Leu)
c.12414T>G (p.Phe4138Leu)
c.10875T>G (p.Phe3625Leu)
c.13296T>G (p.Phe4432Leu)
c.13278T>G (p.Phe4426Leu)
c.13254T>G (p.Phe4418Leu)
c.13182T>G (p.Phe4394Leu)
c.13146T>G (p.Phe4382Leu)
c.9999T>G (p.Phe3333Leu)
c.9603T>G (p.Phe3201Leu)
gnomAD v4
7g.152148814A>GCA458884775KMT2Cc.1301T>C
n.2245T>C
c.13284T>C (p.Phe4428=)
n.2413T>C
n.8305T>C
c.3686T>C
c.10623T>C (p.Phe3541=)
n.4743T>C
c.3758T>C
n.1879T>C
n.1829T>C
c.1530T>C (p.Phe510=)
c.8010T>C (p.Phe2670=)
c.13113T>C (p.Phe4371=)
c.8900T>C
c.3755T>C
c.3689T>C
n.7824T>C
c.8013T>C (p.Phe2671=)
c.12678T>C (p.Phe4226=)
c.3690T>C
n.2128T>C
c.5794T>C
c.2964T>C (p.Phe988=)
n.10995T>C
c.*10633T>C (n.*10633T>C)
c.13329T>C (p.Phe4443=)
c.13326T>C (p.Phe4442=)
c.13164T>C (p.Phe4388=)
c.13257T>C (p.Phe4419=)
c.13161T>C (p.Phe4387=)
c.13281T>C (p.Phe4427=)
c.13209T>C (p.Phe4403=)
c.13176T>C (p.Phe4392=)
c.13092T>C (p.Phe4364=)
c.12414T>C (p.Phe4138=)
c.10875T>C (p.Phe3625=)
c.13296T>C (p.Phe4432=)
c.13278T>C (p.Phe4426=)
c.13254T>C (p.Phe4418=)
c.13182T>C (p.Phe4394=)
c.13146T>C (p.Phe4382=)
c.9999T>C (p.Phe3333=)
c.9603T>C (p.Phe3201=)
7g.152148814A>TCA370093143KMT2Cc.1301T>A
n.2245T>A
c.13284T>A (p.Phe4428Leu)
n.2413T>A
n.8305T>A
c.3686T>A
c.10623T>A (p.Phe3541Leu)
n.4743T>A
c.3758T>A
n.1879T>A
n.1829T>A
c.1530T>A (p.Phe510Leu)
c.8010T>A (p.Phe2670Leu)
c.13113T>A (p.Phe4371Leu)
c.8900T>A
c.3755T>A
c.3689T>A
n.7824T>A
c.8013T>A (p.Phe2671Leu)
c.12678T>A (p.Phe4226Leu)
c.3690T>A
n.2128T>A
c.5794T>A
c.2964T>A (p.Phe988Leu)
n.10995T>A
c.*10633T>A (n.*10633T>A)
c.13329T>A (p.Phe4443Leu)
c.13326T>A (p.Phe4442Leu)
c.13164T>A (p.Phe4388Leu)
c.13257T>A (p.Phe4419Leu)
c.13161T>A (p.Phe4387Leu)
c.13281T>A (p.Phe4427Leu)
c.13209T>A (p.Phe4403Leu)
c.13176T>A (p.Phe4392Leu)
c.13092T>A (p.Phe4364Leu)
c.12414T>A (p.Phe4138Leu)
c.10875T>A (p.Phe3625Leu)
c.13296T>A (p.Phe4432Leu)
c.13278T>A (p.Phe4426Leu)
c.13254T>A (p.Phe4418Leu)
c.13182T>A (p.Phe4394Leu)
c.13146T>A (p.Phe4382Leu)
c.9999T>A (p.Phe3333Leu)
c.9603T>A (p.Phe3201Leu)
7g.152148815A>CCA370093145KMT2Cc.1300T>G
n.2244T>G
c.13283T>G (p.Phe4428Cys)
n.2412T>G
n.8304T>G
c.3685T>G
c.10622T>G (p.Phe3541Cys)
n.4742T>G
c.3757T>G
n.1878T>G
n.1828T>G
c.1529T>G (p.Phe510Cys)
c.8009T>G (p.Phe2670Cys)
c.13112T>G (p.Phe4371Cys)
c.8899T>G
c.3754T>G
c.3688T>G
n.7823T>G
c.8012T>G (p.Phe2671Cys)
c.12677T>G (p.Phe4226Cys)
c.3689T>G
n.2127T>G
c.5793T>G
c.2963T>G (p.Phe988Cys)
n.10994T>G
c.*10632T>G (n.*10632T>G)
c.13328T>G (p.Phe4443Cys)
c.13325T>G (p.Phe4442Cys)
c.13163T>G (p.Phe4388Cys)
c.13256T>G (p.Phe4419Cys)
c.13160T>G (p.Phe4387Cys)
c.13280T>G (p.Phe4427Cys)
c.13208T>G (p.Phe4403Cys)
c.13175T>G (p.Phe4392Cys)
c.13091T>G (p.Phe4364Cys)
c.12413T>G (p.Phe4138Cys)
c.10874T>G (p.Phe3625Cys)
c.13295T>G (p.Phe4432Cys)
c.13277T>G (p.Phe4426Cys)
c.13253T>G (p.Phe4418Cys)
c.13181T>G (p.Phe4394Cys)
c.13145T>G (p.Phe4382Cys)
c.9998T>G (p.Phe3333Cys)
c.9602T>G (p.Phe3201Cys)
7g.152148815A>GCA370093148KMT2Cc.1300T>C
n.2244T>C
c.13283T>C (p.Phe4428Ser)
n.2412T>C
n.8304T>C
c.3685T>C
c.10622T>C (p.Phe3541Ser)
n.4742T>C
c.3757T>C
n.1878T>C
n.1828T>C
c.1529T>C (p.Phe510Ser)
c.8009T>C (p.Phe2670Ser)
c.13112T>C (p.Phe4371Ser)
c.8899T>C
c.3754T>C
c.3688T>C
n.7823T>C
c.8012T>C (p.Phe2671Ser)
c.12677T>C (p.Phe4226Ser)
c.3689T>C
n.2127T>C
c.5793T>C
c.2963T>C (p.Phe988Ser)
n.10994T>C
c.*10632T>C (n.*10632T>C)
c.13328T>C (p.Phe4443Ser)
c.13325T>C (p.Phe4442Ser)
c.13163T>C (p.Phe4388Ser)
c.13256T>C (p.Phe4419Ser)
c.13160T>C (p.Phe4387Ser)
c.13280T>C (p.Phe4427Ser)
c.13208T>C (p.Phe4403Ser)
c.13175T>C (p.Phe4392Ser)
c.13091T>C (p.Phe4364Ser)
c.12413T>C (p.Phe4138Ser)
c.10874T>C (p.Phe3625Ser)
c.13295T>C (p.Phe4432Ser)
c.13277T>C (p.Phe4426Ser)
c.13253T>C (p.Phe4418Ser)
c.13181T>C (p.Phe4394Ser)
c.13145T>C (p.Phe4382Ser)
c.9998T>C (p.Phe3333Ser)
c.9602T>C (p.Phe3201Ser)
7g.152148815A>TCA370093147KMT2Cc.1300T>A
n.2244T>A
c.13283T>A (p.Phe4428Tyr)
n.2412T>A
n.8304T>A
c.3685T>A
c.10622T>A (p.Phe3541Tyr)
n.4742T>A
c.3757T>A
n.1878T>A
n.1828T>A
c.1529T>A (p.Phe510Tyr)
c.8009T>A (p.Phe2670Tyr)
c.13112T>A (p.Phe4371Tyr)
c.8899T>A
c.3754T>A
c.3688T>A
n.7823T>A
c.8012T>A (p.Phe2671Tyr)
c.12677T>A (p.Phe4226Tyr)
c.3689T>A
n.2127T>A
c.5793T>A
c.2963T>A (p.Phe988Tyr)
n.10994T>A
c.*10632T>A (n.*10632T>A)
c.13328T>A (p.Phe4443Tyr)
c.13325T>A (p.Phe4442Tyr)
c.13163T>A (p.Phe4388Tyr)
c.13256T>A (p.Phe4419Tyr)
c.13160T>A (p.Phe4387Tyr)
c.13280T>A (p.Phe4427Tyr)
c.13208T>A (p.Phe4403Tyr)
c.13175T>A (p.Phe4392Tyr)
c.13091T>A (p.Phe4364Tyr)
c.12413T>A (p.Phe4138Tyr)
c.10874T>A (p.Phe3625Tyr)
c.13295T>A (p.Phe4432Tyr)
c.13277T>A (p.Phe4426Tyr)
c.13253T>A (p.Phe4418Tyr)
c.13181T>A (p.Phe4394Tyr)
c.13145T>A (p.Phe4382Tyr)
c.9998T>A (p.Phe3333Tyr)
c.9602T>A (p.Phe3201Tyr)
7g.152148816A>CCA370093149KMT2Cc.1299T>G
n.2243T>G
c.13282T>G (p.Phe4428Val)
n.2411T>G
n.8303T>G
c.3684T>G
c.10621T>G (p.Phe3541Val)
n.4741T>G
c.3756T>G
n.1877T>G
n.1827T>G
c.1528T>G (p.Phe510Val)
c.8008T>G (p.Phe2670Val)
c.13111T>G (p.Phe4371Val)
c.8898T>G
c.3753T>G
c.3687T>G
n.7822T>G
c.8011T>G (p.Phe2671Val)
c.12676T>G (p.Phe4226Val)
c.3688T>G
n.2126T>G
c.5792T>G
c.2962T>G (p.Phe988Val)
n.10993T>G
c.*10631T>G (n.*10631T>G)
c.13327T>G (p.Phe4443Val)
c.13324T>G (p.Phe4442Val)
c.13162T>G (p.Phe4388Val)
c.13255T>G (p.Phe4419Val)
c.13159T>G (p.Phe4387Val)
c.13279T>G (p.Phe4427Val)
c.13207T>G (p.Phe4403Val)
c.13174T>G (p.Phe4392Val)
c.13090T>G (p.Phe4364Val)
c.12412T>G (p.Phe4138Val)
c.10873T>G (p.Phe3625Val)
c.13294T>G (p.Phe4432Val)
c.13276T>G (p.Phe4426Val)
c.13252T>G (p.Phe4418Val)
c.13180T>G (p.Phe4394Val)
c.13144T>G (p.Phe4382Val)
c.9997T>G (p.Phe3333Val)
c.9601T>G (p.Phe3201Val)
7g.152148816A>GCA370093150KMT2Cc.1299T>C
n.2243T>C
c.13282T>C (p.Phe4428Leu)
n.2411T>C
n.8303T>C
c.3684T>C
c.10621T>C (p.Phe3541Leu)
n.4741T>C
c.3756T>C
n.1877T>C
n.1827T>C
c.1528T>C (p.Phe510Leu)
c.8008T>C (p.Phe2670Leu)
c.13111T>C (p.Phe4371Leu)
c.8898T>C
c.3753T>C
c.3687T>C
n.7822T>C
c.8011T>C (p.Phe2671Leu)
c.12676T>C (p.Phe4226Leu)
c.3688T>C
n.2126T>C
c.5792T>C
c.2962T>C (p.Phe988Leu)
n.10993T>C
c.*10631T>C (n.*10631T>C)
c.13327T>C (p.Phe4443Leu)
c.13324T>C (p.Phe4442Leu)
c.13162T>C (p.Phe4388Leu)
c.13255T>C (p.Phe4419Leu)
c.13159T>C (p.Phe4387Leu)
c.13279T>C (p.Phe4427Leu)
c.13207T>C (p.Phe4403Leu)
c.13174T>C (p.Phe4392Leu)
c.13090T>C (p.Phe4364Leu)
c.12412T>C (p.Phe4138Leu)
c.10873T>C (p.Phe3625Leu)
c.13294T>C (p.Phe4432Leu)
c.13276T>C (p.Phe4426Leu)
c.13252T>C (p.Phe4418Leu)
c.13180T>C (p.Phe4394Leu)
c.13144T>C (p.Phe4382Leu)
c.9997T>C (p.Phe3333Leu)
c.9601T>C (p.Phe3201Leu)
7g.152148816A>TCA370093152KMT2Cc.1299T>A
n.2243T>A
c.13282T>A (p.Phe4428Ile)
n.2411T>A
n.8303T>A
c.3684T>A
c.10621T>A (p.Phe3541Ile)
n.4741T>A
c.3756T>A
n.1877T>A
n.1827T>A
c.1528T>A (p.Phe510Ile)
c.8008T>A (p.Phe2670Ile)
c.13111T>A (p.Phe4371Ile)
c.8898T>A
c.3753T>A
c.3687T>A
n.7822T>A
c.8011T>A (p.Phe2671Ile)
c.12676T>A (p.Phe4226Ile)
c.3688T>A
n.2126T>A
c.5792T>A
c.2962T>A (p.Phe988Ile)
n.10993T>A
c.*10631T>A (n.*10631T>A)
c.13327T>A (p.Phe4443Ile)
c.13324T>A (p.Phe4442Ile)
c.13162T>A (p.Phe4388Ile)
c.13255T>A (p.Phe4419Ile)
c.13159T>A (p.Phe4387Ile)
c.13279T>A (p.Phe4427Ile)
c.13207T>A (p.Phe4403Ile)
c.13174T>A (p.Phe4392Ile)
c.13090T>A (p.Phe4364Ile)
c.12412T>A (p.Phe4138Ile)
c.10873T>A (p.Phe3625Ile)
c.13294T>A (p.Phe4432Ile)
c.13276T>A (p.Phe4426Ile)
c.13252T>A (p.Phe4418Ile)
c.13180T>A (p.Phe4394Ile)
c.13144T>A (p.Phe4382Ile)
c.9997T>A (p.Phe3333Ile)
c.9601T>A (p.Phe3201Ile)
7g.152148817T>ACA458884786KMT2Cc.1298A>T
n.2242A>T
c.13281A>T (p.Thr4427=)
n.2410A>T
n.8302A>T
c.3683A>T
c.10620A>T (p.Thr3540=)
n.4740A>T
c.3755A>T
n.1876A>T
n.1826A>T
c.1527A>T (p.Thr509=)
c.8007A>T (p.Thr2669=)
c.13110A>T (p.Thr4370=)
c.8897A>T
c.3752A>T
c.3686A>T
n.7821A>T
c.8010A>T (p.Thr2670=)
c.12675A>T (p.Thr4225=)
c.3687A>T
n.2125A>T
c.5791A>T
c.2961A>T (p.Thr987=)
n.10992A>T
c.*10630A>T (n.*10630A>T)
c.13326A>T (p.Thr4442=)
c.13323A>T (p.Thr4441=)
c.13161A>T (p.Thr4387=)
c.13254A>T (p.Thr4418=)
c.13158A>T (p.Thr4386=)
c.13278A>T (p.Thr4426=)
c.13206A>T (p.Thr4402=)
c.13173A>T (p.Thr4391=)
c.13089A>T (p.Thr4363=)
c.12411A>T (p.Thr4137=)
c.10872A>T (p.Thr3624=)
c.13293A>T (p.Thr4431=)
c.13275A>T (p.Thr4425=)
c.13251A>T (p.Thr4417=)
c.13179A>T (p.Thr4393=)
c.13143A>T (p.Thr4381=)
c.9996A>T (p.Thr3332=)
c.9600A>T (p.Thr3200=)
7g.152148817T>CCA458884783KMT2Cc.1298A>G
n.2242A>G
c.13281A>G (p.Thr4427=)
n.2410A>G
n.8302A>G
c.3683A>G
c.10620A>G (p.Thr3540=)
n.4740A>G
c.3755A>G
n.1876A>G
n.1826A>G
c.1527A>G (p.Thr509=)
c.8007A>G (p.Thr2669=)
c.13110A>G (p.Thr4370=)
c.8897A>G
c.3752A>G
c.3686A>G
n.7821A>G
c.8010A>G (p.Thr2670=)
c.12675A>G (p.Thr4225=)
c.3687A>G
n.2125A>G
c.5791A>G
c.2961A>G (p.Thr987=)
n.10992A>G
c.*10630A>G (n.*10630A>G)
c.13326A>G (p.Thr4442=)
c.13323A>G (p.Thr4441=)
c.13161A>G (p.Thr4387=)
c.13254A>G (p.Thr4418=)
c.13158A>G (p.Thr4386=)
c.13278A>G (p.Thr4426=)
c.13206A>G (p.Thr4402=)
c.13173A>G (p.Thr4391=)
c.13089A>G (p.Thr4363=)
c.12411A>G (p.Thr4137=)
c.10872A>G (p.Thr3624=)
c.13293A>G (p.Thr4431=)
c.13275A>G (p.Thr4425=)
c.13251A>G (p.Thr4417=)
c.13179A>G (p.Thr4393=)
c.13143A>G (p.Thr4381=)
c.9996A>G (p.Thr3332=)
c.9600A>G (p.Thr3200=)
7g.152148817T>GCA458884781KMT2Cc.1298A>C
n.2242A>C
c.13281A>C (p.Thr4427=)
n.2410A>C
n.8302A>C
c.3683A>C
c.10620A>C (p.Thr3540=)
n.4740A>C
c.3755A>C
n.1876A>C
n.1826A>C
c.1527A>C (p.Thr509=)
c.8007A>C (p.Thr2669=)
c.13110A>C (p.Thr4370=)
c.8897A>C
c.3752A>C
c.3686A>C
n.7821A>C
c.8010A>C (p.Thr2670=)
c.12675A>C (p.Thr4225=)
c.3687A>C
n.2125A>C
c.5791A>C
c.2961A>C (p.Thr987=)
n.10992A>C
c.*10630A>C (n.*10630A>C)
c.13326A>C (p.Thr4442=)
c.13323A>C (p.Thr4441=)
c.13161A>C (p.Thr4387=)
c.13254A>C (p.Thr4418=)
c.13158A>C (p.Thr4386=)
c.13278A>C (p.Thr4426=)
c.13206A>C (p.Thr4402=)
c.13173A>C (p.Thr4391=)
c.13089A>C (p.Thr4363=)
c.12411A>C (p.Thr4137=)
c.10872A>C (p.Thr3624=)
c.13293A>C (p.Thr4431=)
c.13275A>C (p.Thr4425=)
c.13251A>C (p.Thr4417=)
c.13179A>C (p.Thr4393=)
c.13143A>C (p.Thr4381=)
c.9996A>C (p.Thr3332=)
c.9600A>C (p.Thr3200=)
7g.152148818G>ACA370093154KMT2Cc.1297C>T
n.2241C>T
c.13280C>T (p.Thr4427Ile)
n.2409C>T
n.8301C>T
c.3682C>T
c.10619C>T (p.Thr3540Ile)
n.4739C>T
c.3754C>T
n.1875C>T
n.1825C>T
c.1526C>T (p.Thr509Ile)
c.8006C>T (p.Thr2669Ile)
c.13109C>T (p.Thr4370Ile)
c.8896C>T
c.3751C>T
c.3685C>T
n.7820C>T
c.8009C>T (p.Thr2670Ile)
c.12674C>T (p.Thr4225Ile)
c.3686C>T
n.2124C>T
c.5790C>T
c.2960C>T (p.Thr987Ile)
n.10991C>T
c.*10629C>T (n.*10629C>T)
c.13325C>T (p.Thr4442Ile)
c.13322C>T (p.Thr4441Ile)
c.13160C>T (p.Thr4387Ile)
c.13253C>T (p.Thr4418Ile)
c.13157C>T (p.Thr4386Ile)
c.13277C>T (p.Thr4426Ile)
c.13205C>T (p.Thr4402Ile)
c.13172C>T (p.Thr4391Ile)
c.13088C>T (p.Thr4363Ile)
c.12410C>T (p.Thr4137Ile)
c.10871C>T (p.Thr3624Ile)
c.13292C>T (p.Thr4431Ile)
c.13274C>T (p.Thr4425Ile)
c.13250C>T (p.Thr4417Ile)
c.13178C>T (p.Thr4393Ile)
c.13142C>T (p.Thr4381Ile)
c.9995C>T (p.Thr3332Ile)
c.9599C>T (p.Thr3200Ile)
7g.152148818G>CCA370093156KMT2Cc.1297C>G
n.2241C>G
c.13280C>G (p.Thr4427Arg)
n.2409C>G
n.8301C>G
c.3682C>G
c.10619C>G (p.Thr3540Arg)
n.4739C>G
c.3754C>G
n.1875C>G
n.1825C>G
c.1526C>G (p.Thr509Arg)
c.8006C>G (p.Thr2669Arg)
c.13109C>G (p.Thr4370Arg)
c.8896C>G
c.3751C>G
c.3685C>G
n.7820C>G
c.8009C>G (p.Thr2670Arg)
c.12674C>G (p.Thr4225Arg)
c.3686C>G
n.2124C>G
c.5790C>G
c.2960C>G (p.Thr987Arg)
n.10991C>G
c.*10629C>G (n.*10629C>G)
c.13325C>G (p.Thr4442Arg)
c.13322C>G (p.Thr4441Arg)
c.13160C>G (p.Thr4387Arg)
c.13253C>G (p.Thr4418Arg)
c.13157C>G (p.Thr4386Arg)
c.13277C>G (p.Thr4426Arg)
c.13205C>G (p.Thr4402Arg)
c.13172C>G (p.Thr4391Arg)
c.13088C>G (p.Thr4363Arg)
c.12410C>G (p.Thr4137Arg)
c.10871C>G (p.Thr3624Arg)
c.13292C>G (p.Thr4431Arg)
c.13274C>G (p.Thr4425Arg)
c.13250C>G (p.Thr4417Arg)
c.13178C>G (p.Thr4393Arg)
c.13142C>G (p.Thr4381Arg)
c.9995C>G (p.Thr3332Arg)
c.9599C>G (p.Thr3200Arg)
7g.152148818G=CA1752986400KMT2Cc.1297C=
n.2241C=
c.13280C= (p.Thr4427=)
n.2409C=
n.8301C=
c.3682C=
c.10619C= (p.Thr3540=)
n.4739C=
c.3754C=
n.1875C=
n.1825C=
c.1526C= (p.Thr509=)
c.8006C= (p.Thr2669=)
c.13109C= (p.Thr4370=)
c.8896C=
c.3751C=
c.3685C=
n.7820C=
c.8009C= (p.Thr2670=)
c.12674C= (p.Thr4225=)
c.3686C=
n.2124C=
c.5790C=
c.2960C= (p.Thr987=)
n.10991C=
c.*10629C= (n.*10629C=)
c.13325C= (p.Thr4442=)
c.13322C= (p.Thr4441=)
c.13160C= (p.Thr4387=)
c.13253C= (p.Thr4418=)
c.13157C= (p.Thr4386=)
c.13277C= (p.Thr4426=)
c.13205C= (p.Thr4402=)
c.13172C= (p.Thr4391=)
c.13088C= (p.Thr4363=)
c.12410C= (p.Thr4137=)
c.10871C= (p.Thr3624=)
c.13292C= (p.Thr4431=)
c.13274C= (p.Thr4425=)
c.13250C= (p.Thr4417=)
c.13178C= (p.Thr4393=)
c.13142C= (p.Thr4381=)
c.9995C= (p.Thr3332=)
c.9599C= (p.Thr3200=)
7g.152148818G>TCA4578669KMT2Cc.1297C>A
n.2241C>A
c.13280C>A (p.Thr4427Lys)
n.2409C>A
n.8301C>A
c.3682C>A
c.10619C>A (p.Thr3540Lys)
n.4739C>A
c.3754C>A
n.1875C>A
n.1825C>A
c.1526C>A (p.Thr509Lys)
c.8006C>A (p.Thr2669Lys)
c.13109C>A (p.Thr4370Lys)
c.8896C>A
c.3751C>A
c.3685C>A
n.7820C>A
c.8009C>A (p.Thr2670Lys)
c.12674C>A (p.Thr4225Lys)
c.3686C>A
n.2124C>A
c.5790C>A
c.2960C>A (p.Thr987Lys)
n.10991C>A
c.*10629C>A (n.*10629C>A)
c.13325C>A (p.Thr4442Lys)
c.13322C>A (p.Thr4441Lys)
c.13160C>A (p.Thr4387Lys)
c.13253C>A (p.Thr4418Lys)
c.13157C>A (p.Thr4386Lys)
c.13277C>A (p.Thr4426Lys)
c.13205C>A (p.Thr4402Lys)
c.13172C>A (p.Thr4391Lys)
c.13088C>A (p.Thr4363Lys)
c.12410C>A (p.Thr4137Lys)
c.10871C>A (p.Thr3624Lys)
c.13292C>A (p.Thr4431Lys)
c.13274C>A (p.Thr4425Lys)
c.13250C>A (p.Thr4417Lys)
c.13178C>A (p.Thr4393Lys)
c.13142C>A (p.Thr4381Lys)
c.9995C>A (p.Thr3332Lys)
c.9599C>A (p.Thr3200Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.152148819T>ACA370093158KMT2Cc.1296A>T
n.2240A>T
c.13279A>T (p.Thr4427Ser)
n.2408A>T
n.8300A>T
c.3681A>T
c.10618A>T (p.Thr3540Ser)
n.4738A>T
c.3753A>T
n.1874A>T
n.1824A>T
c.1525A>T (p.Thr509Ser)
c.8005A>T (p.Thr2669Ser)
c.13108A>T (p.Thr4370Ser)
c.8895A>T
c.3750A>T
c.3684A>T
n.7819A>T
c.8008A>T (p.Thr2670Ser)
c.12673A>T (p.Thr4225Ser)
c.3685A>T
n.2123A>T
c.5789A>T
c.2959A>T (p.Thr987Ser)
n.10990A>T
c.*10628A>T (n.*10628A>T)
c.13324A>T (p.Thr4442Ser)
c.13321A>T (p.Thr4441Ser)
c.13159A>T (p.Thr4387Ser)
c.13252A>T (p.Thr4418Ser)
c.13156A>T (p.Thr4386Ser)
c.13276A>T (p.Thr4426Ser)
c.13204A>T (p.Thr4402Ser)
c.13171A>T (p.Thr4391Ser)
c.13087A>T (p.Thr4363Ser)
c.12409A>T (p.Thr4137Ser)
c.10870A>T (p.Thr3624Ser)
c.13291A>T (p.Thr4431Ser)
c.13273A>T (p.Thr4425Ser)
c.13249A>T (p.Thr4417Ser)
c.13177A>T (p.Thr4393Ser)
c.13141A>T (p.Thr4381Ser)
c.9994A>T (p.Thr3332Ser)
c.9598A>T (p.Thr3200Ser)
gnomAD v4
7g.152148819T>CCA370093160KMT2Cc.1296A>G
n.2240A>G
c.13279A>G (p.Thr4427Ala)
n.2408A>G
n.8300A>G
c.3681A>G
c.10618A>G (p.Thr3540Ala)
n.4738A>G
c.3753A>G
n.1874A>G
n.1824A>G
c.1525A>G (p.Thr509Ala)
c.8005A>G (p.Thr2669Ala)
c.13108A>G (p.Thr4370Ala)
c.8895A>G
c.3750A>G
c.3684A>G
n.7819A>G
c.8008A>G (p.Thr2670Ala)
c.12673A>G (p.Thr4225Ala)
c.3685A>G
n.2123A>G
c.5789A>G
c.2959A>G (p.Thr987Ala)
n.10990A>G
c.*10628A>G (n.*10628A>G)
c.13324A>G (p.Thr4442Ala)
c.13321A>G (p.Thr4441Ala)
c.13159A>G (p.Thr4387Ala)
c.13252A>G (p.Thr4418Ala)
c.13156A>G (p.Thr4386Ala)
c.13276A>G (p.Thr4426Ala)
c.13204A>G (p.Thr4402Ala)
c.13171A>G (p.Thr4391Ala)
c.13087A>G (p.Thr4363Ala)
c.12409A>G (p.Thr4137Ala)
c.10870A>G (p.Thr3624Ala)
c.13291A>G (p.Thr4431Ala)
c.13273A>G (p.Thr4425Ala)
c.13249A>G (p.Thr4417Ala)
c.13177A>G (p.Thr4393Ala)
c.13141A>G (p.Thr4381Ala)
c.9994A>G (p.Thr3332Ala)
c.9598A>G (p.Thr3200Ala)
7g.152148819T>GCA370093161KMT2Cc.1296A>C
n.2240A>C
c.13279A>C (p.Thr4427Pro)
n.2408A>C
n.8300A>C
c.3681A>C
c.10618A>C (p.Thr3540Pro)
n.4738A>C
c.3753A>C
n.1874A>C
n.1824A>C
c.1525A>C (p.Thr509Pro)
c.8005A>C (p.Thr2669Pro)
c.13108A>C (p.Thr4370Pro)
c.8895A>C
c.3750A>C
c.3684A>C
n.7819A>C
c.8008A>C (p.Thr2670Pro)
c.12673A>C (p.Thr4225Pro)
c.3685A>C
n.2123A>C
c.5789A>C
c.2959A>C (p.Thr987Pro)
n.10990A>C
c.*10628A>C (n.*10628A>C)
c.13324A>C (p.Thr4442Pro)
c.13321A>C (p.Thr4441Pro)
c.13159A>C (p.Thr4387Pro)
c.13252A>C (p.Thr4418Pro)
c.13156A>C (p.Thr4386Pro)
c.13276A>C (p.Thr4426Pro)
c.13204A>C (p.Thr4402Pro)
c.13171A>C (p.Thr4391Pro)
c.13087A>C (p.Thr4363Pro)
c.12409A>C (p.Thr4137Pro)
c.10870A>C (p.Thr3624Pro)
c.13291A>C (p.Thr4431Pro)
c.13273A>C (p.Thr4425Pro)
c.13249A>C (p.Thr4417Pro)
c.13177A>C (p.Thr4393Pro)
c.13141A>C (p.Thr4381Pro)
c.9994A>C (p.Thr3332Pro)
c.9598A>C (p.Thr3200Pro)
7g.152148820C>ACA458884792KMT2Cc.1295G>T
n.2239G>T
c.13278G>T (p.Gly4426=)
n.2407G>T
n.8299G>T
c.3680G>T
c.10617G>T (p.Gly3539=)
n.4737G>T
c.3752G>T
n.1873G>T
n.1823G>T
c.1524G>T (p.Gly508=)
c.8004G>T (p.Gly2668=)
c.13107G>T (p.Gly4369=)
c.8894G>T
c.3749G>T
c.3683G>T
n.7818G>T
c.8007G>T (p.Gly2669=)
c.12672G>T (p.Gly4224=)
c.3684G>T
n.2122G>T
c.5788G>T
c.2958G>T (p.Gly986=)
n.10989G>T
c.*10627G>T (n.*10627G>T)
c.13323G>T (p.Gly4441=)
c.13320G>T (p.Gly4440=)
c.13158G>T (p.Gly4386=)
c.13251G>T (p.Gly4417=)
c.13155G>T (p.Gly4385=)
c.13275G>T (p.Gly4425=)
c.13203G>T (p.Gly4401=)
c.13170G>T (p.Gly4390=)
c.13086G>T (p.Gly4362=)
c.12408G>T (p.Gly4136=)
c.10869G>T (p.Gly3623=)
c.13290G>T (p.Gly4430=)
c.13272G>T (p.Gly4424=)
c.13248G>T (p.Gly4416=)
c.13176G>T (p.Gly4392=)
c.13140G>T (p.Gly4380=)
c.9993G>T (p.Gly3331=)
c.9597G>T (p.Gly3199=)
7g.152148820C=CA1752986407KMT2Cc.1295G=
n.2239G=
c.13278G= (p.Gly4426=)
n.2407G=
n.8299G=
c.3680G=
c.10617G= (p.Gly3539=)
n.4737G=
c.3752G=
n.1873G=
n.1823G=
c.1524G= (p.Gly508=)
c.8004G= (p.Gly2668=)
c.13107G= (p.Gly4369=)
c.8894G=
c.3749G=
c.3683G=
n.7818G=
c.8007G= (p.Gly2669=)
c.12672G= (p.Gly4224=)
c.3684G=
n.2122G=
c.5788G=
c.2958G= (p.Gly986=)
n.10989G=
c.*10627G= (n.*10627G=)
c.13323G= (p.Gly4441=)
c.13320G= (p.Gly4440=)
c.13158G= (p.Gly4386=)
c.13251G= (p.Gly4417=)
c.13155G= (p.Gly4385=)
c.13275G= (p.Gly4425=)
c.13203G= (p.Gly4401=)
c.13170G= (p.Gly4390=)
c.13086G= (p.Gly4362=)
c.12408G= (p.Gly4136=)
c.10869G= (p.Gly3623=)
c.13290G= (p.Gly4430=)
c.13272G= (p.Gly4424=)
c.13248G= (p.Gly4416=)
c.13176G= (p.Gly4392=)
c.13140G= (p.Gly4380=)
c.9993G= (p.Gly3331=)
c.9597G= (p.Gly3199=)
7g.152148820C>GCA169220866KMT2Cc.1295G>C
n.2239G>C
c.13278G>C (p.Gly4426=)
n.2407G>C
n.8299G>C
c.3680G>C
c.10617G>C (p.Gly3539=)
n.4737G>C
c.3752G>C
n.1873G>C
n.1823G>C
c.1524G>C (p.Gly508=)
c.8004G>C (p.Gly2668=)
c.13107G>C (p.Gly4369=)
c.8894G>C
c.3749G>C
c.3683G>C
n.7818G>C
c.8007G>C (p.Gly2669=)
c.12672G>C (p.Gly4224=)
c.3684G>C
n.2122G>C
c.5788G>C
c.2958G>C (p.Gly986=)
n.10989G>C
c.*10627G>C (n.*10627G>C)
c.13323G>C (p.Gly4441=)
c.13320G>C (p.Gly4440=)
c.13158G>C (p.Gly4386=)
c.13251G>C (p.Gly4417=)
c.13155G>C (p.Gly4385=)
c.13275G>C (p.Gly4425=)
c.13203G>C (p.Gly4401=)
c.13170G>C (p.Gly4390=)
c.13086G>C (p.Gly4362=)
c.12408G>C (p.Gly4136=)
c.10869G>C (p.Gly3623=)
c.13290G>C (p.Gly4430=)
c.13272G>C (p.Gly4424=)
c.13248G>C (p.Gly4416=)
c.13176G>C (p.Gly4392=)
c.13140G>C (p.Gly4380=)
c.9993G>C (p.Gly3331=)
c.9597G>C (p.Gly3199=)
dbSNP gnomAD v3 gnomAD v4
7g.152148820C>TCA458884795KMT2Cc.1295G>A
n.2239G>A
c.13278G>A (p.Gly4426=)
n.2407G>A
n.8299G>A
c.3680G>A
c.10617G>A (p.Gly3539=)
n.4737G>A
c.3752G>A
n.1873G>A
n.1823G>A
c.1524G>A (p.Gly508=)
c.8004G>A (p.Gly2668=)
c.13107G>A (p.Gly4369=)
c.8894G>A
c.3749G>A
c.3683G>A
n.7818G>A
c.8007G>A (p.Gly2669=)
c.12672G>A (p.Gly4224=)
c.3684G>A
n.2122G>A
c.5788G>A
c.2958G>A (p.Gly986=)
n.10989G>A
c.*10627G>A (n.*10627G>A)
c.13323G>A (p.Gly4441=)
c.13320G>A (p.Gly4440=)
c.13158G>A (p.Gly4386=)
c.13251G>A (p.Gly4417=)
c.13155G>A (p.Gly4385=)
c.13275G>A (p.Gly4425=)
c.13203G>A (p.Gly4401=)
c.13170G>A (p.Gly4390=)
c.13086G>A (p.Gly4362=)
c.12408G>A (p.Gly4136=)
c.10869G>A (p.Gly3623=)
c.13290G>A (p.Gly4430=)
c.13272G>A (p.Gly4424=)
c.13248G>A (p.Gly4416=)
c.13176G>A (p.Gly4392=)
c.13140G>A (p.Gly4380=)
c.9993G>A (p.Gly3331=)
c.9597G>A (p.Gly3199=)
gnomAD v4
7g.152148821C>ACA370093163KMT2Cc.1294G>T
n.2238G>T
c.13277G>T (p.Gly4426Val)
n.2406G>T
n.8298G>T
c.3679G>T
c.10616G>T (p.Gly3539Val)
n.4736G>T
c.3751G>T
n.1872G>T
n.1822G>T
c.1523G>T (p.Gly508Val)
c.8003G>T (p.Gly2668Val)
c.13106G>T (p.Gly4369Val)
c.8893G>T
c.3748G>T
c.3682G>T
n.7817G>T
c.8006G>T (p.Gly2669Val)
c.12671G>T (p.Gly4224Val)
c.3683G>T
n.2121G>T
c.5787G>T
c.2957G>T (p.Gly986Val)
n.10988G>T
c.*10626G>T (n.*10626G>T)
c.13322G>T (p.Gly4441Val)
c.13319G>T (p.Gly4440Val)
c.13157G>T (p.Gly4386Val)
c.13250G>T (p.Gly4417Val)
c.13154G>T (p.Gly4385Val)
c.13274G>T (p.Gly4425Val)
c.13202G>T (p.Gly4401Val)
c.13169G>T (p.Gly4390Val)
c.13085G>T (p.Gly4362Val)
c.12407G>T (p.Gly4136Val)
c.10868G>T (p.Gly3623Val)
c.13289G>T (p.Gly4430Val)
c.13271G>T (p.Gly4424Val)
c.13247G>T (p.Gly4416Val)
c.13175G>T (p.Gly4392Val)
c.13139G>T (p.Gly4380Val)
c.9992G>T (p.Gly3331Val)
c.9596G>T (p.Gly3199Val)
dbSNP
7g.152148821C>GCA370093164KMT2Cc.1294G>C
n.2238G>C
c.13277G>C (p.Gly4426Ala)
n.2406G>C
n.8298G>C
c.3679G>C
c.10616G>C (p.Gly3539Ala)
n.4736G>C
c.3751G>C
n.1872G>C
n.1822G>C
c.1523G>C (p.Gly508Ala)
c.8003G>C (p.Gly2668Ala)
c.13106G>C (p.Gly4369Ala)
c.8893G>C
c.3748G>C
c.3682G>C
n.7817G>C
c.8006G>C (p.Gly2669Ala)
c.12671G>C (p.Gly4224Ala)
c.3683G>C
n.2121G>C
c.5787G>C
c.2957G>C (p.Gly986Ala)
n.10988G>C
c.*10626G>C (n.*10626G>C)
c.13322G>C (p.Gly4441Ala)
c.13319G>C (p.Gly4440Ala)
c.13157G>C (p.Gly4386Ala)
c.13250G>C (p.Gly4417Ala)
c.13154G>C (p.Gly4385Ala)
c.13274G>C (p.Gly4425Ala)
c.13202G>C (p.Gly4401Ala)
c.13169G>C (p.Gly4390Ala)
c.13085G>C (p.Gly4362Ala)
c.12407G>C (p.Gly4136Ala)
c.10868G>C (p.Gly3623Ala)
c.13289G>C (p.Gly4430Ala)
c.13271G>C (p.Gly4424Ala)
c.13247G>C (p.Gly4416Ala)
c.13175G>C (p.Gly4392Ala)
c.13139G>C (p.Gly4380Ala)
c.9992G>C (p.Gly3331Ala)
c.9596G>C (p.Gly3199Ala)
7g.152148821C>TCA370093165KMT2Cc.1294G>A
n.2238G>A
c.13277G>A (p.Gly4426Glu)
n.2406G>A
n.8298G>A
c.3679G>A
c.10616G>A (p.Gly3539Glu)
n.4736G>A
c.3751G>A
n.1872G>A
n.1822G>A
c.1523G>A (p.Gly508Glu)
c.8003G>A (p.Gly2668Glu)
c.13106G>A (p.Gly4369Glu)
c.8893G>A
c.3748G>A
c.3682G>A
n.7817G>A
c.8006G>A (p.Gly2669Glu)
c.12671G>A (p.Gly4224Glu)
c.3683G>A
n.2121G>A
c.5787G>A
c.2957G>A (p.Gly986Glu)
n.10988G>A
c.*10626G>A (n.*10626G>A)
c.13322G>A (p.Gly4441Glu)
c.13319G>A (p.Gly4440Glu)
c.13157G>A (p.Gly4386Glu)
c.13250G>A (p.Gly4417Glu)
c.13154G>A (p.Gly4385Glu)
c.13274G>A (p.Gly4425Glu)
c.13202G>A (p.Gly4401Glu)
c.13169G>A (p.Gly4390Glu)
c.13085G>A (p.Gly4362Glu)
c.12407G>A (p.Gly4136Glu)
c.10868G>A (p.Gly3623Glu)
c.13289G>A (p.Gly4430Glu)
c.13271G>A (p.Gly4424Glu)
c.13247G>A (p.Gly4416Glu)
c.13175G>A (p.Gly4392Glu)
c.13139G>A (p.Gly4380Glu)
c.9992G>A (p.Gly3331Glu)
c.9596G>A (p.Gly3199Glu)
dbSNP
7g.152148822C>ACA370093169KMT2Cc.1293G>T
n.2237G>T
c.13276G>T (p.Gly4426Trp)
n.2405G>T
n.8297G>T
c.3678G>T
c.10615G>T (p.Gly3539Trp)
n.4735G>T
c.3750G>T
n.1871G>T
n.1821G>T
c.1522G>T (p.Gly508Trp)
c.8002G>T (p.Gly2668Trp)
c.13105G>T (p.Gly4369Trp)
c.8892G>T
c.3747G>T
c.3681G>T
n.7816G>T
c.8005G>T (p.Gly2669Trp)
c.12670G>T (p.Gly4224Trp)
c.3682G>T
n.2120G>T
c.5786G>T
c.2956G>T (p.Gly986Trp)
n.10987G>T
c.*10625G>T (n.*10625G>T)
c.13321G>T (p.Gly4441Trp)
c.13318G>T (p.Gly4440Trp)
c.13156G>T (p.Gly4386Trp)
c.13249G>T (p.Gly4417Trp)
c.13153G>T (p.Gly4385Trp)
c.13273G>T (p.Gly4425Trp)
c.13201G>T (p.Gly4401Trp)
c.13168G>T (p.Gly4390Trp)
c.13084G>T (p.Gly4362Trp)
c.12406G>T (p.Gly4136Trp)
c.10867G>T (p.Gly3623Trp)
c.13288G>T (p.Gly4430Trp)
c.13270G>T (p.Gly4424Trp)
c.13246G>T (p.Gly4416Trp)
c.13174G>T (p.Gly4392Trp)
c.13138G>T (p.Gly4380Trp)
c.9991G>T (p.Gly3331Trp)
c.9595G>T (p.Gly3199Trp)
7g.152148822C=CA1752986413KMT2Cc.1293G=
n.2237G=
c.13276G= (p.Gly4426=)
n.2405G=
n.8297G=
c.3678G=
c.10615G= (p.Gly3539=)
n.4735G=
c.3750G=
n.1871G=
n.1821G=
c.1522G= (p.Gly508=)
c.8002G= (p.Gly2668=)
c.13105G= (p.Gly4369=)
c.8892G=
c.3747G=
c.3681G=
n.7816G=
c.8005G= (p.Gly2669=)
c.12670G= (p.Gly4224=)
c.3682G=
n.2120G=
c.5786G=
c.2956G= (p.Gly986=)
n.10987G=
c.*10625G= (n.*10625G=)
c.13321G= (p.Gly4441=)
c.13318G= (p.Gly4440=)
c.13156G= (p.Gly4386=)
c.13249G= (p.Gly4417=)
c.13153G= (p.Gly4385=)
c.13273G= (p.Gly4425=)
c.13201G= (p.Gly4401=)
c.13168G= (p.Gly4390=)
c.13084G= (p.Gly4362=)
c.12406G= (p.Gly4136=)
c.10867G= (p.Gly3623=)
c.13288G= (p.Gly4430=)
c.13270G= (p.Gly4424=)
c.13246G= (p.Gly4416=)
c.13174G= (p.Gly4392=)
c.13138G= (p.Gly4380=)
c.9991G= (p.Gly3331=)
c.9595G= (p.Gly3199=)
7g.152148822C>GCA370093167KMT2Cc.1293G>C
n.2237G>C
c.13276G>C (p.Gly4426Arg)
n.2405G>C
n.8297G>C
c.3678G>C
c.10615G>C (p.Gly3539Arg)
n.4735G>C
c.3750G>C
n.1871G>C
n.1821G>C
c.1522G>C (p.Gly508Arg)
c.8002G>C (p.Gly2668Arg)
c.13105G>C (p.Gly4369Arg)
c.8892G>C
c.3747G>C
c.3681G>C
n.7816G>C
c.8005G>C (p.Gly2669Arg)
c.12670G>C (p.Gly4224Arg)
c.3682G>C
n.2120G>C
c.5786G>C
c.2956G>C (p.Gly986Arg)
n.10987G>C
c.*10625G>C (n.*10625G>C)
c.13321G>C (p.Gly4441Arg)
c.13318G>C (p.Gly4440Arg)
c.13156G>C (p.Gly4386Arg)
c.13249G>C (p.Gly4417Arg)
c.13153G>C (p.Gly4385Arg)
c.13273G>C (p.Gly4425Arg)
c.13201G>C (p.Gly4401Arg)
c.13168G>C (p.Gly4390Arg)
c.13084G>C (p.Gly4362Arg)
c.12406G>C (p.Gly4136Arg)
c.10867G>C (p.Gly3623Arg)
c.13288G>C (p.Gly4430Arg)
c.13270G>C (p.Gly4424Arg)
c.13246G>C (p.Gly4416Arg)
c.13174G>C (p.Gly4392Arg)
c.13138G>C (p.Gly4380Arg)
c.9991G>C (p.Gly3331Arg)
c.9595G>C (p.Gly3199Arg)
7g.152148822C>TCA4578670KMT2Cc.1293G>A
n.2237G>A
c.13276G>A (p.Gly4426Arg)
n.2405G>A
n.8297G>A
c.3678G>A
c.10615G>A (p.Gly3539Arg)
n.4735G>A
c.3750G>A
n.1871G>A
n.1821G>A
c.1522G>A (p.Gly508Arg)
c.8002G>A (p.Gly2668Arg)
c.13105G>A (p.Gly4369Arg)
c.8892G>A
c.3747G>A
c.3681G>A
n.7816G>A
c.8005G>A (p.Gly2669Arg)
c.12670G>A (p.Gly4224Arg)
c.3682G>A
n.2120G>A
c.5786G>A
c.2956G>A (p.Gly986Arg)
n.10987G>A
c.*10625G>A (n.*10625G>A)
c.13321G>A (p.Gly4441Arg)
c.13318G>A (p.Gly4440Arg)
c.13156G>A (p.Gly4386Arg)
c.13249G>A (p.Gly4417Arg)
c.13153G>A (p.Gly4385Arg)
c.13273G>A (p.Gly4425Arg)
c.13201G>A (p.Gly4401Arg)
c.13168G>A (p.Gly4390Arg)
c.13084G>A (p.Gly4362Arg)
c.12406G>A (p.Gly4136Arg)
c.10867G>A (p.Gly3623Arg)
c.13288G>A (p.Gly4430Arg)
c.13270G>A (p.Gly4424Arg)
c.13246G>A (p.Gly4416Arg)
c.13174G>A (p.Gly4392Arg)
c.13138G>A (p.Gly4380Arg)
c.9991G>A (p.Gly3331Arg)
c.9595G>A (p.Gly3199Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148823C>ACA370093171KMT2Cc.1292G>T
n.2236G>T
c.13275G>T (p.Lys4425Asn)
n.2404G>T
n.8296G>T
c.3677G>T
c.10614G>T (p.Lys3538Asn)
n.4734G>T
c.3749G>T
n.1870G>T
n.1820G>T
c.1521G>T (p.Lys507Asn)
c.8001G>T (p.Lys2667Asn)
c.13104G>T (p.Lys4368Asn)
c.8891G>T
c.3746G>T
c.3680G>T
n.7815G>T
c.8004G>T (p.Lys2668Asn)
c.12669G>T (p.Lys4223Asn)
c.3681G>T
n.2119G>T
c.5785G>T
c.2955G>T (p.Lys985Asn)
n.10986G>T
c.*10624G>T (n.*10624G>T)
c.13320G>T (p.Lys4440Asn)
c.13317G>T (p.Lys4439Asn)
c.13155G>T (p.Lys4385Asn)
c.13248G>T (p.Lys4416Asn)
c.13152G>T (p.Lys4384Asn)
c.13272G>T (p.Lys4424Asn)
c.13200G>T (p.Lys4400Asn)
c.13167G>T (p.Lys4389Asn)
c.13083G>T (p.Lys4361Asn)
c.12405G>T (p.Lys4135Asn)
c.10866G>T (p.Lys3622Asn)
c.13287G>T (p.Lys4429Asn)
c.13269G>T (p.Lys4423Asn)
c.13245G>T (p.Lys4415Asn)
c.13173G>T (p.Lys4391Asn)
c.13137G>T (p.Lys4379Asn)
c.9990G>T (p.Lys3330Asn)
c.9594G>T (p.Lys3198Asn)
7g.152148823C>GCA370093172KMT2Cc.1292G>C
n.2236G>C
c.13275G>C (p.Lys4425Asn)
n.2404G>C
n.8296G>C
c.3677G>C
c.10614G>C (p.Lys3538Asn)
n.4734G>C
c.3749G>C
n.1870G>C
n.1820G>C
c.1521G>C (p.Lys507Asn)
c.8001G>C (p.Lys2667Asn)
c.13104G>C (p.Lys4368Asn)
c.8891G>C
c.3746G>C
c.3680G>C
n.7815G>C
c.8004G>C (p.Lys2668Asn)
c.12669G>C (p.Lys4223Asn)
c.3681G>C
n.2119G>C
c.5785G>C
c.2955G>C (p.Lys985Asn)
n.10986G>C
c.*10624G>C (n.*10624G>C)
c.13320G>C (p.Lys4440Asn)
c.13317G>C (p.Lys4439Asn)
c.13155G>C (p.Lys4385Asn)
c.13248G>C (p.Lys4416Asn)
c.13152G>C (p.Lys4384Asn)
c.13272G>C (p.Lys4424Asn)
c.13200G>C (p.Lys4400Asn)
c.13167G>C (p.Lys4389Asn)
c.13083G>C (p.Lys4361Asn)
c.12405G>C (p.Lys4135Asn)
c.10866G>C (p.Lys3622Asn)
c.13287G>C (p.Lys4429Asn)
c.13269G>C (p.Lys4423Asn)
c.13245G>C (p.Lys4415Asn)
c.13173G>C (p.Lys4391Asn)
c.13137G>C (p.Lys4379Asn)
c.9990G>C (p.Lys3330Asn)
c.9594G>C (p.Lys3198Asn)
7g.152148823C>TCA458884802KMT2Cc.1292G>A
n.2236G>A
c.13275G>A (p.Lys4425=)
n.2404G>A
n.8296G>A
c.3677G>A
c.10614G>A (p.Lys3538=)
n.4734G>A
c.3749G>A
n.1870G>A
n.1820G>A
c.1521G>A (p.Lys507=)
c.8001G>A (p.Lys2667=)
c.13104G>A (p.Lys4368=)
c.8891G>A
c.3746G>A
c.3680G>A
n.7815G>A
c.8004G>A (p.Lys2668=)
c.12669G>A (p.Lys4223=)
c.3681G>A
n.2119G>A
c.5785G>A
c.2955G>A (p.Lys985=)
n.10986G>A
c.*10624G>A (n.*10624G>A)
c.13320G>A (p.Lys4440=)
c.13317G>A (p.Lys4439=)
c.13155G>A (p.Lys4385=)
c.13248G>A (p.Lys4416=)
c.13152G>A (p.Lys4384=)
c.13272G>A (p.Lys4424=)
c.13200G>A (p.Lys4400=)
c.13167G>A (p.Lys4389=)
c.13083G>A (p.Lys4361=)
c.12405G>A (p.Lys4135=)
c.10866G>A (p.Lys3622=)
c.13287G>A (p.Lys4429=)
c.13269G>A (p.Lys4423=)
c.13245G>A (p.Lys4415=)
c.13173G>A (p.Lys4391=)
c.13137G>A (p.Lys4379=)
c.9990G>A (p.Lys3330=)
c.9594G>A (p.Lys3198=)
dbSNP
7g.152148824T>ACA370093174KMT2Cc.1291A>T
n.2235A>T
c.13274A>T (p.Lys4425Met)
n.2403A>T
n.8295A>T
c.3676A>T
c.10613A>T (p.Lys3538Met)
n.4733A>T
c.3748A>T
n.1869A>T
n.1819A>T
c.1520A>T (p.Lys507Met)
c.8000A>T (p.Lys2667Met)
c.13103A>T (p.Lys4368Met)
c.8890A>T
c.3745A>T
c.3679A>T
n.7814A>T
c.8003A>T (p.Lys2668Met)
c.12668A>T (p.Lys4223Met)
c.3680A>T
n.2118A>T
c.5784A>T
c.2954A>T (p.Lys985Met)
n.10985A>T
c.*10623A>T (n.*10623A>T)
c.13319A>T (p.Lys4440Met)
c.13316A>T (p.Lys4439Met)
c.13154A>T (p.Lys4385Met)
c.13247A>T (p.Lys4416Met)
c.13151A>T (p.Lys4384Met)
c.13271A>T (p.Lys4424Met)
c.13199A>T (p.Lys4400Met)
c.13166A>T (p.Lys4389Met)
c.13082A>T (p.Lys4361Met)
c.12404A>T (p.Lys4135Met)
c.10865A>T (p.Lys3622Met)
c.13286A>T (p.Lys4429Met)
c.13268A>T (p.Lys4423Met)
c.13244A>T (p.Lys4415Met)
c.13172A>T (p.Lys4391Met)
c.13136A>T (p.Lys4379Met)
c.9989A>T (p.Lys3330Met)
c.9593A>T (p.Lys3198Met)
7g.152148824T>CCA370093175KMT2Cc.1291A>G
n.2235A>G
c.13274A>G (p.Lys4425Arg)
n.2403A>G
n.8295A>G
c.3676A>G
c.10613A>G (p.Lys3538Arg)
n.4733A>G
c.3748A>G
n.1869A>G
n.1819A>G
c.1520A>G (p.Lys507Arg)
c.8000A>G (p.Lys2667Arg)
c.13103A>G (p.Lys4368Arg)
c.8890A>G
c.3745A>G
c.3679A>G
n.7814A>G
c.8003A>G (p.Lys2668Arg)
c.12668A>G (p.Lys4223Arg)
c.3680A>G
n.2118A>G
c.5784A>G
c.2954A>G (p.Lys985Arg)
n.10985A>G
c.*10623A>G (n.*10623A>G)
c.13319A>G (p.Lys4440Arg)
c.13316A>G (p.Lys4439Arg)
c.13154A>G (p.Lys4385Arg)
c.13247A>G (p.Lys4416Arg)
c.13151A>G (p.Lys4384Arg)
c.13271A>G (p.Lys4424Arg)
c.13199A>G (p.Lys4400Arg)
c.13166A>G (p.Lys4389Arg)
c.13082A>G (p.Lys4361Arg)
c.12404A>G (p.Lys4135Arg)
c.10865A>G (p.Lys3622Arg)
c.13286A>G (p.Lys4429Arg)
c.13268A>G (p.Lys4423Arg)
c.13244A>G (p.Lys4415Arg)
c.13172A>G (p.Lys4391Arg)
c.13136A>G (p.Lys4379Arg)
c.9989A>G (p.Lys3330Arg)
c.9593A>G (p.Lys3198Arg)
gnomAD v4
7g.152148824T>GCA370093177KMT2Cc.1291A>C
n.2235A>C
c.13274A>C (p.Lys4425Thr)
n.2403A>C
n.8295A>C
c.3676A>C
c.10613A>C (p.Lys3538Thr)
n.4733A>C
c.3748A>C
n.1869A>C
n.1819A>C
c.1520A>C (p.Lys507Thr)
c.8000A>C (p.Lys2667Thr)
c.13103A>C (p.Lys4368Thr)
c.8890A>C
c.3745A>C
c.3679A>C
n.7814A>C
c.8003A>C (p.Lys2668Thr)
c.12668A>C (p.Lys4223Thr)
c.3680A>C
n.2118A>C
c.5784A>C
c.2954A>C (p.Lys985Thr)
n.10985A>C
c.*10623A>C (n.*10623A>C)
c.13319A>C (p.Lys4440Thr)
c.13316A>C (p.Lys4439Thr)
c.13154A>C (p.Lys4385Thr)
c.13247A>C (p.Lys4416Thr)
c.13151A>C (p.Lys4384Thr)
c.13271A>C (p.Lys4424Thr)
c.13199A>C (p.Lys4400Thr)
c.13166A>C (p.Lys4389Thr)
c.13082A>C (p.Lys4361Thr)
c.12404A>C (p.Lys4135Thr)
c.10865A>C (p.Lys3622Thr)
c.13286A>C (p.Lys4429Thr)
c.13268A>C (p.Lys4423Thr)
c.13244A>C (p.Lys4415Thr)
c.13172A>C (p.Lys4391Thr)
c.13136A>C (p.Lys4379Thr)
c.9989A>C (p.Lys3330Thr)
c.9593A>C (p.Lys3198Thr)
7g.152148825T>ACA370093178KMT2Cc.1290A>T
n.2234A>T
c.13273A>T (p.Lys4425Ter)
n.2402A>T
n.8294A>T
c.3675A>T
c.10612A>T (p.Lys3538Ter)
n.4732A>T
c.3747A>T
n.1868A>T
n.1818A>T
c.1519A>T (p.Lys507Ter)
c.7999A>T (p.Lys2667Ter)
c.13102A>T (p.Lys4368Ter)
c.8889A>T
c.3744A>T
c.3678A>T
n.7813A>T
c.8002A>T (p.Lys2668Ter)
c.12667A>T (p.Lys4223Ter)
c.3679A>T
n.2117A>T
c.5783A>T
c.2953A>T (p.Lys985Ter)
n.10984A>T
c.*10622A>T (n.*10622A>T)
c.13318A>T (p.Lys4440Ter)
c.13315A>T (p.Lys4439Ter)
c.13153A>T (p.Lys4385Ter)
c.13246A>T (p.Lys4416Ter)
c.13150A>T (p.Lys4384Ter)
c.13270A>T (p.Lys4424Ter)
c.13198A>T (p.Lys4400Ter)
c.13165A>T (p.Lys4389Ter)
c.13081A>T (p.Lys4361Ter)
c.12403A>T (p.Lys4135Ter)
c.10864A>T (p.Lys3622Ter)
c.13285A>T (p.Lys4429Ter)
c.13267A>T (p.Lys4423Ter)
c.13243A>T (p.Lys4415Ter)
c.13171A>T (p.Lys4391Ter)
c.13135A>T (p.Lys4379Ter)
c.9988A>T (p.Lys3330Ter)
c.9592A>T (p.Lys3198Ter)
7g.152148825T>CCA370093179KMT2Cc.1290A>G
n.2234A>G
c.13273A>G (p.Lys4425Glu)
n.2402A>G
n.8294A>G
c.3675A>G
c.10612A>G (p.Lys3538Glu)
n.4732A>G
c.3747A>G
n.1868A>G
n.1818A>G
c.1519A>G (p.Lys507Glu)
c.7999A>G (p.Lys2667Glu)
c.13102A>G (p.Lys4368Glu)
c.8889A>G
c.3744A>G
c.3678A>G
n.7813A>G
c.8002A>G (p.Lys2668Glu)
c.12667A>G (p.Lys4223Glu)
c.3679A>G
n.2117A>G
c.5783A>G
c.2953A>G (p.Lys985Glu)
n.10984A>G
c.*10622A>G (n.*10622A>G)
c.13318A>G (p.Lys4440Glu)
c.13315A>G (p.Lys4439Glu)
c.13153A>G (p.Lys4385Glu)
c.13246A>G (p.Lys4416Glu)
c.13150A>G (p.Lys4384Glu)
c.13270A>G (p.Lys4424Glu)
c.13198A>G (p.Lys4400Glu)
c.13165A>G (p.Lys4389Glu)
c.13081A>G (p.Lys4361Glu)
c.12403A>G (p.Lys4135Glu)
c.10864A>G (p.Lys3622Glu)
c.13285A>G (p.Lys4429Glu)
c.13267A>G (p.Lys4423Glu)
c.13243A>G (p.Lys4415Glu)
c.13171A>G (p.Lys4391Glu)
c.13135A>G (p.Lys4379Glu)
c.9988A>G (p.Lys3330Glu)
c.9592A>G (p.Lys3198Glu)
gnomAD v4
7g.152148825T>GCA370093180KMT2Cc.1290A>C
n.2234A>C
c.13273A>C (p.Lys4425Gln)
n.2402A>C
n.8294A>C
c.3675A>C
c.10612A>C (p.Lys3538Gln)
n.4732A>C
c.3747A>C
n.1868A>C
n.1818A>C
c.1519A>C (p.Lys507Gln)
c.7999A>C (p.Lys2667Gln)
c.13102A>C (p.Lys4368Gln)
c.8889A>C
c.3744A>C
c.3678A>C
n.7813A>C
c.8002A>C (p.Lys2668Gln)
c.12667A>C (p.Lys4223Gln)
c.3679A>C
n.2117A>C
c.5783A>C
c.2953A>C (p.Lys985Gln)
n.10984A>C
c.*10622A>C (n.*10622A>C)
c.13318A>C (p.Lys4440Gln)
c.13315A>C (p.Lys4439Gln)
c.13153A>C (p.Lys4385Gln)
c.13246A>C (p.Lys4416Gln)
c.13150A>C (p.Lys4384Gln)
c.13270A>C (p.Lys4424Gln)
c.13198A>C (p.Lys4400Gln)
c.13165A>C (p.Lys4389Gln)
c.13081A>C (p.Lys4361Gln)
c.12403A>C (p.Lys4135Gln)
c.10864A>C (p.Lys3622Gln)
c.13285A>C (p.Lys4429Gln)
c.13267A>C (p.Lys4423Gln)
c.13243A>C (p.Lys4415Gln)
c.13171A>C (p.Lys4391Gln)
c.13135A>C (p.Lys4379Gln)
c.9988A>C (p.Lys3330Gln)
c.9592A>C (p.Lys3198Gln)
ClinVar gnomAD v4
7g.152148826A>CCA458884806KMT2Cc.1289T>G
n.2233T>G
c.13272T>G (p.Pro4424=)
n.2401T>G
n.8293T>G
c.3674T>G
c.10611T>G (p.Pro3537=)
n.4731T>G
c.3746T>G
n.1867T>G
n.1817T>G
c.1518T>G (p.Pro506=)
c.7998T>G (p.Pro2666=)
c.13101T>G (p.Pro4367=)
c.8888T>G
c.3743T>G
c.3677T>G
n.7812T>G
c.8001T>G (p.Pro2667=)
c.12666T>G (p.Pro4222=)
c.3678T>G
n.2116T>G
c.5782T>G
c.2952T>G (p.Pro984=)
n.10983T>G
c.*10621T>G (n.*10621T>G)
c.13317T>G (p.Pro4439=)
c.13314T>G (p.Pro4438=)
c.13152T>G (p.Pro4384=)
c.13245T>G (p.Pro4415=)
c.13149T>G (p.Pro4383=)
c.13269T>G (p.Pro4423=)
c.13197T>G (p.Pro4399=)
c.13164T>G (p.Pro4388=)
c.13080T>G (p.Pro4360=)
c.12402T>G (p.Pro4134=)
c.10863T>G (p.Pro3621=)
c.13284T>G (p.Pro4428=)
c.13266T>G (p.Pro4422=)
c.13242T>G (p.Pro4414=)
c.13170T>G (p.Pro4390=)
c.13134T>G (p.Pro4378=)
c.9987T>G (p.Pro3329=)
c.9591T>G (p.Pro3197=)
7g.152148826A>GCA458884808KMT2Cc.1289T>C
n.2233T>C
c.13272T>C (p.Pro4424=)
n.2401T>C
n.8293T>C
c.3674T>C
c.10611T>C (p.Pro3537=)
n.4731T>C
c.3746T>C
n.1867T>C
n.1817T>C
c.1518T>C (p.Pro506=)
c.7998T>C (p.Pro2666=)
c.13101T>C (p.Pro4367=)
c.8888T>C
c.3743T>C
c.3677T>C
n.7812T>C
c.8001T>C (p.Pro2667=)
c.12666T>C (p.Pro4222=)
c.3678T>C
n.2116T>C
c.5782T>C
c.2952T>C (p.Pro984=)
n.10983T>C
c.*10621T>C (n.*10621T>C)
c.13317T>C (p.Pro4439=)
c.13314T>C (p.Pro4438=)
c.13152T>C (p.Pro4384=)
c.13245T>C (p.Pro4415=)
c.13149T>C (p.Pro4383=)
c.13269T>C (p.Pro4423=)
c.13197T>C (p.Pro4399=)
c.13164T>C (p.Pro4388=)
c.13080T>C (p.Pro4360=)
c.12402T>C (p.Pro4134=)
c.10863T>C (p.Pro3621=)
c.13284T>C (p.Pro4428=)
c.13266T>C (p.Pro4422=)
c.13242T>C (p.Pro4414=)
c.13170T>C (p.Pro4390=)
c.13134T>C (p.Pro4378=)
c.9987T>C (p.Pro3329=)
c.9591T>C (p.Pro3197=)
7g.152148826A>TCA458884809KMT2Cc.1289T>A
n.2233T>A
c.13272T>A (p.Pro4424=)
n.2401T>A
n.8293T>A
c.3674T>A
c.10611T>A (p.Pro3537=)
n.4731T>A
c.3746T>A
n.1867T>A
n.1817T>A
c.1518T>A (p.Pro506=)
c.7998T>A (p.Pro2666=)
c.13101T>A (p.Pro4367=)
c.8888T>A
c.3743T>A
c.3677T>A
n.7812T>A
c.8001T>A (p.Pro2667=)
c.12666T>A (p.Pro4222=)
c.3678T>A
n.2116T>A
c.5782T>A
c.2952T>A (p.Pro984=)
n.10983T>A
c.*10621T>A (n.*10621T>A)
c.13317T>A (p.Pro4439=)
c.13314T>A (p.Pro4438=)
c.13152T>A (p.Pro4384=)
c.13245T>A (p.Pro4415=)
c.13149T>A (p.Pro4383=)
c.13269T>A (p.Pro4423=)
c.13197T>A (p.Pro4399=)
c.13164T>A (p.Pro4388=)
c.13080T>A (p.Pro4360=)
c.12402T>A (p.Pro4134=)
c.10863T>A (p.Pro3621=)
c.13284T>A (p.Pro4428=)
c.13266T>A (p.Pro4422=)
c.13242T>A (p.Pro4414=)
c.13170T>A (p.Pro4390=)
c.13134T>A (p.Pro4378=)
c.9987T>A (p.Pro3329=)
c.9591T>A (p.Pro3197=)
7g.152148827G>ACA370093181KMT2Cc.1288C>T
n.2232C>T
c.13271C>T (p.Pro4424Leu)
n.2400C>T
n.8292C>T
c.3673C>T
c.10610C>T (p.Pro3537Leu)
n.4730C>T
c.3745C>T
n.1866C>T
n.1816C>T
c.1517C>T (p.Pro506Leu)
c.7997C>T (p.Pro2666Leu)
c.13100C>T (p.Pro4367Leu)
c.8887C>T
c.3742C>T
c.3676C>T
n.7811C>T
c.8000C>T (p.Pro2667Leu)
c.12665C>T (p.Pro4222Leu)
c.3677C>T
n.2115C>T
c.5781C>T
c.2951C>T (p.Pro984Leu)
n.10982C>T
c.*10620C>T (n.*10620C>T)
c.13316C>T (p.Pro4439Leu)
c.13313C>T (p.Pro4438Leu)
c.13151C>T (p.Pro4384Leu)
c.13244C>T (p.Pro4415Leu)
c.13148C>T (p.Pro4383Leu)
c.13268C>T (p.Pro4423Leu)
c.13196C>T (p.Pro4399Leu)
c.13163C>T (p.Pro4388Leu)
c.13079C>T (p.Pro4360Leu)
c.12401C>T (p.Pro4134Leu)
c.10862C>T (p.Pro3621Leu)
c.13283C>T (p.Pro4428Leu)
c.13265C>T (p.Pro4422Leu)
c.13241C>T (p.Pro4414Leu)
c.13169C>T (p.Pro4390Leu)
c.13133C>T (p.Pro4378Leu)
c.9986C>T (p.Pro3329Leu)
c.9590C>T (p.Pro3197Leu)
7g.152148827G>CCA370093183KMT2Cc.1288C>G
n.2232C>G
c.13271C>G (p.Pro4424Arg)
n.2400C>G
n.8292C>G
c.3673C>G
c.10610C>G (p.Pro3537Arg)
n.4730C>G
c.3745C>G
n.1866C>G
n.1816C>G
c.1517C>G (p.Pro506Arg)
c.7997C>G (p.Pro2666Arg)
c.13100C>G (p.Pro4367Arg)
c.8887C>G
c.3742C>G
c.3676C>G
n.7811C>G
c.8000C>G (p.Pro2667Arg)
c.12665C>G (p.Pro4222Arg)
c.3677C>G
n.2115C>G
c.5781C>G
c.2951C>G (p.Pro984Arg)
n.10982C>G
c.*10620C>G (n.*10620C>G)
c.13316C>G (p.Pro4439Arg)
c.13313C>G (p.Pro4438Arg)
c.13151C>G (p.Pro4384Arg)
c.13244C>G (p.Pro4415Arg)
c.13148C>G (p.Pro4383Arg)
c.13268C>G (p.Pro4423Arg)
c.13196C>G (p.Pro4399Arg)
c.13163C>G (p.Pro4388Arg)
c.13079C>G (p.Pro4360Arg)
c.12401C>G (p.Pro4134Arg)
c.10862C>G (p.Pro3621Arg)
c.13283C>G (p.Pro4428Arg)
c.13265C>G (p.Pro4422Arg)
c.13241C>G (p.Pro4414Arg)
c.13169C>G (p.Pro4390Arg)
c.13133C>G (p.Pro4378Arg)
c.9986C>G (p.Pro3329Arg)
c.9590C>G (p.Pro3197Arg)
dbSNP
7g.152148827G=CA1752986419KMT2Cc.1288C=
n.2232C=
c.13271C= (p.Pro4424=)
n.2400C=
n.8292C=
c.3673C=
c.10610C= (p.Pro3537=)
n.4730C=
c.3745C=
n.1866C=
n.1816C=
c.1517C= (p.Pro506=)
c.7997C= (p.Pro2666=)
c.13100C= (p.Pro4367=)
c.8887C=
c.3742C=
c.3676C=
n.7811C=
c.8000C= (p.Pro2667=)
c.12665C= (p.Pro4222=)
c.3677C=
n.2115C=
c.5781C=
c.2951C= (p.Pro984=)
n.10982C=
c.*10620C= (n.*10620C=)
c.13316C= (p.Pro4439=)
c.13313C= (p.Pro4438=)
c.13151C= (p.Pro4384=)
c.13244C= (p.Pro4415=)
c.13148C= (p.Pro4383=)
c.13268C= (p.Pro4423=)
c.13196C= (p.Pro4399=)
c.13163C= (p.Pro4388=)
c.13079C= (p.Pro4360=)
c.12401C= (p.Pro4134=)
c.10862C= (p.Pro3621=)
c.13283C= (p.Pro4428=)
c.13265C= (p.Pro4422=)
c.13241C= (p.Pro4414=)
c.13169C= (p.Pro4390=)
c.13133C= (p.Pro4378=)
c.9986C= (p.Pro3329=)
c.9590C= (p.Pro3197=)
7g.152148827G>TCA370093185KMT2Cc.1288C>A
n.2232C>A
c.13271C>A (p.Pro4424His)
n.2400C>A
n.8292C>A
c.3673C>A
c.10610C>A (p.Pro3537His)
n.4730C>A
c.3745C>A
n.1866C>A
n.1816C>A
c.1517C>A (p.Pro506His)
c.7997C>A (p.Pro2666His)
c.13100C>A (p.Pro4367His)
c.8887C>A
c.3742C>A
c.3676C>A
n.7811C>A
c.8000C>A (p.Pro2667His)
c.12665C>A (p.Pro4222His)
c.3677C>A
n.2115C>A
c.5781C>A
c.2951C>A (p.Pro984His)
n.10982C>A
c.*10620C>A (n.*10620C>A)
c.13316C>A (p.Pro4439His)
c.13313C>A (p.Pro4438His)
c.13151C>A (p.Pro4384His)
c.13244C>A (p.Pro4415His)
c.13148C>A (p.Pro4383His)
c.13268C>A (p.Pro4423His)
c.13196C>A (p.Pro4399His)
c.13163C>A (p.Pro4388His)
c.13079C>A (p.Pro4360His)
c.12401C>A (p.Pro4134His)
c.10862C>A (p.Pro3621His)
c.13283C>A (p.Pro4428His)
c.13265C>A (p.Pro4422His)
c.13241C>A (p.Pro4414His)
c.13169C>A (p.Pro4390His)
c.13133C>A (p.Pro4378His)
c.9986C>A (p.Pro3329His)
c.9590C>A (p.Pro3197His)
7g.152148827_152148828delinsAACA645565077KMT2Cc.1287_1288delinsTT
n.2231_2232delinsTT
c.13270_13271delinsTT (p.Pro4424Phe)
n.2399_2400delinsTT
n.8291_8292delinsTT
c.3672_3673delinsTT
c.10609_10610delinsTT (p.Pro3537Phe)
n.4729_4730delinsTT
c.3744_3745delinsTT
n.1865_1866delinsTT
n.1815_1816delinsTT
c.1516_1517delinsTT (p.Pro506Phe)
c.7996_7997delinsTT (p.Pro2666Phe)
c.13099_13100delinsTT (p.Pro4367Phe)
c.8886_8887delinsTT
c.3741_3742delinsTT
c.3675_3676delinsTT
n.7810_7811delinsTT
c.7999_8000delinsTT (p.Pro2667Phe)
c.12664_12665delinsTT (p.Pro4222Phe)
c.3676_3677delinsTT
n.2114_2115delinsTT
c.5780_5781delinsTT
c.2950_2951delinsTT (p.Pro984Phe)
n.10981_10982delinsTT
c.*10619_*10620delinsTT (n.*10619_*10620delinsTT)
c.13315_13316delinsTT (p.Pro4439Phe)
c.13312_13313delinsTT (p.Pro4438Phe)
c.13150_13151delinsTT (p.Pro4384Phe)
c.13243_13244delinsTT (p.Pro4415Phe)
c.13147_13148delinsTT (p.Pro4383Phe)
c.13267_13268delinsTT (p.Pro4423Phe)
c.13195_13196delinsTT (p.Pro4399Phe)
c.13162_13163delinsTT (p.Pro4388Phe)
c.13078_13079delinsTT (p.Pro4360Phe)
c.12400_12401delinsTT (p.Pro4134Phe)
c.10861_10862delinsTT (p.Pro3621Phe)
c.13282_13283delinsTT (p.Pro4428Phe)
c.13264_13265delinsTT (p.Pro4422Phe)
c.13240_13241delinsTT (p.Pro4414Phe)
c.13168_13169delinsTT (p.Pro4390Phe)
c.13132_13133delinsTT (p.Pro4378Phe)
c.9985_9986delinsTT (p.Pro3329Phe)
c.9589_9590delinsTT (p.Pro3197Phe)
COSMIC COSMIC
7g.152148828G>ACA370093189KMT2Cc.1287C>T
n.2231C>T
c.13270C>T (p.Pro4424Ser)
n.2399C>T
n.8291C>T
c.3672C>T
c.10609C>T (p.Pro3537Ser)
n.4729C>T
c.3744C>T
n.1865C>T
n.1815C>T
c.1516C>T (p.Pro506Ser)
c.7996C>T (p.Pro2666Ser)
c.13099C>T (p.Pro4367Ser)
c.8886C>T
c.3741C>T
c.3675C>T
n.7810C>T
c.7999C>T (p.Pro2667Ser)
c.12664C>T (p.Pro4222Ser)
c.3676C>T
n.2114C>T
c.5780C>T
c.2950C>T (p.Pro984Ser)
n.10981C>T
c.*10619C>T (n.*10619C>T)
c.13315C>T (p.Pro4439Ser)
c.13312C>T (p.Pro4438Ser)
c.13150C>T (p.Pro4384Ser)
c.13243C>T (p.Pro4415Ser)
c.13147C>T (p.Pro4383Ser)
c.13267C>T (p.Pro4423Ser)
c.13195C>T (p.Pro4399Ser)
c.13162C>T (p.Pro4388Ser)
c.13078C>T (p.Pro4360Ser)
c.12400C>T (p.Pro4134Ser)
c.10861C>T (p.Pro3621Ser)
c.13282C>T (p.Pro4428Ser)
c.13264C>T (p.Pro4422Ser)
c.13240C>T (p.Pro4414Ser)
c.13168C>T (p.Pro4390Ser)
c.13132C>T (p.Pro4378Ser)
c.9985C>T (p.Pro3329Ser)
c.9589C>T (p.Pro3197Ser)
dbSNP
7g.152148828G>CCA370093188KMT2Cc.1287C>G
n.2231C>G
c.13270C>G (p.Pro4424Ala)
n.2399C>G
n.8291C>G
c.3672C>G
c.10609C>G (p.Pro3537Ala)
n.4729C>G
c.3744C>G
n.1865C>G
n.1815C>G
c.1516C>G (p.Pro506Ala)
c.7996C>G (p.Pro2666Ala)
c.13099C>G (p.Pro4367Ala)
c.8886C>G
c.3741C>G
c.3675C>G
n.7810C>G
c.7999C>G (p.Pro2667Ala)
c.12664C>G (p.Pro4222Ala)
c.3676C>G
n.2114C>G
c.5780C>G
c.2950C>G (p.Pro984Ala)
n.10981C>G
c.*10619C>G (n.*10619C>G)
c.13315C>G (p.Pro4439Ala)
c.13312C>G (p.Pro4438Ala)
c.13150C>G (p.Pro4384Ala)
c.13243C>G (p.Pro4415Ala)
c.13147C>G (p.Pro4383Ala)
c.13267C>G (p.Pro4423Ala)
c.13195C>G (p.Pro4399Ala)
c.13162C>G (p.Pro4388Ala)
c.13078C>G (p.Pro4360Ala)
c.12400C>G (p.Pro4134Ala)
c.10861C>G (p.Pro3621Ala)
c.13282C>G (p.Pro4428Ala)
c.13264C>G (p.Pro4422Ala)
c.13240C>G (p.Pro4414Ala)
c.13168C>G (p.Pro4390Ala)
c.13132C>G (p.Pro4378Ala)
c.9985C>G (p.Pro3329Ala)
c.9589C>G (p.Pro3197Ala)
7g.152148828G=CA1752986423KMT2Cc.1287C=
n.2231C=
c.13270C= (p.Pro4424=)
n.2399C=
n.8291C=
c.3672C=
c.10609C= (p.Pro3537=)
n.4729C=
c.3744C=
n.1865C=
n.1815C=
c.1516C= (p.Pro506=)
c.7996C= (p.Pro2666=)
c.13099C= (p.Pro4367=)
c.8886C=
c.3741C=
c.3675C=
n.7810C=
c.7999C= (p.Pro2667=)
c.12664C= (p.Pro4222=)
c.3676C=
n.2114C=
c.5780C=
c.2950C= (p.Pro984=)
n.10981C=
c.*10619C= (n.*10619C=)
c.13315C= (p.Pro4439=)
c.13312C= (p.Pro4438=)
c.13150C= (p.Pro4384=)
c.13243C= (p.Pro4415=)
c.13147C= (p.Pro4383=)
c.13267C= (p.Pro4423=)
c.13195C= (p.Pro4399=)
c.13162C= (p.Pro4388=)
c.13078C= (p.Pro4360=)
c.12400C= (p.Pro4134=)
c.10861C= (p.Pro3621=)
c.13282C= (p.Pro4428=)
c.13264C= (p.Pro4422=)
c.13240C= (p.Pro4414=)
c.13168C= (p.Pro4390=)
c.13132C= (p.Pro4378=)
c.9985C= (p.Pro3329=)
c.9589C= (p.Pro3197=)
7g.152148828G>TCA370093186KMT2Cc.1287C>A
n.2231C>A
c.13270C>A (p.Pro4424Thr)
n.2399C>A
n.8291C>A
c.3672C>A
c.10609C>A (p.Pro3537Thr)
n.4729C>A
c.3744C>A
n.1865C>A
n.1815C>A
c.1516C>A (p.Pro506Thr)
c.7996C>A (p.Pro2666Thr)
c.13099C>A (p.Pro4367Thr)
c.8886C>A
c.3741C>A
c.3675C>A
n.7810C>A
c.7999C>A (p.Pro2667Thr)
c.12664C>A (p.Pro4222Thr)
c.3676C>A
n.2114C>A
c.5780C>A
c.2950C>A (p.Pro984Thr)
n.10981C>A
c.*10619C>A (n.*10619C>A)
c.13315C>A (p.Pro4439Thr)
c.13312C>A (p.Pro4438Thr)
c.13150C>A (p.Pro4384Thr)
c.13243C>A (p.Pro4415Thr)
c.13147C>A (p.Pro4383Thr)
c.13267C>A (p.Pro4423Thr)
c.13195C>A (p.Pro4399Thr)
c.13162C>A (p.Pro4388Thr)
c.13078C>A (p.Pro4360Thr)
c.12400C>A (p.Pro4134Thr)
c.10861C>A (p.Pro3621Thr)
c.13282C>A (p.Pro4428Thr)
c.13264C>A (p.Pro4422Thr)
c.13240C>A (p.Pro4414Thr)
c.13168C>A (p.Pro4390Thr)
c.13132C>A (p.Pro4378Thr)
c.9985C>A (p.Pro3329Thr)
c.9589C>A (p.Pro3197Thr)
7g.152148829G>ACA458884821KMT2Cc.1286C>T
n.2230C>T
c.13269C>T (p.Ile4423=)
n.2398C>T
n.8290C>T
c.3671C>T
c.10608C>T (p.Ile3536=)
n.4728C>T
c.3743C>T
n.1864C>T
n.1814C>T
c.1515C>T (p.Ile505=)
c.7995C>T (p.Ile2665=)
c.13098C>T (p.Ile4366=)
c.8885C>T
c.3740C>T
c.3674C>T
n.7809C>T
c.7998C>T (p.Ile2666=)
c.12663C>T (p.Ile4221=)
c.3675C>T
n.2113C>T
c.5779C>T
c.2949C>T (p.Ile983=)
n.10980C>T
c.*10618C>T (n.*10618C>T)
c.13314C>T (p.Ile4438=)
c.13311C>T (p.Ile4437=)
c.13149C>T (p.Ile4383=)
c.13242C>T (p.Ile4414=)
c.13146C>T (p.Ile4382=)
c.13266C>T (p.Ile4422=)
c.13194C>T (p.Ile4398=)
c.13161C>T (p.Ile4387=)
c.13077C>T (p.Ile4359=)
c.12399C>T (p.Ile4133=)
c.10860C>T (p.Ile3620=)
c.13281C>T (p.Ile4427=)
c.13263C>T (p.Ile4421=)
c.13239C>T (p.Ile4413=)
c.13167C>T (p.Ile4389=)
c.13131C>T (p.Ile4377=)
c.9984C>T (p.Ile3328=)
c.9588C>T (p.Ile3196=)
dbSNP gnomAD v4
7g.152148829G>CCA370093191KMT2Cc.1286C>G
n.2230C>G
c.13269C>G (p.Ile4423Met)
n.2398C>G
n.8290C>G
c.3671C>G
c.10608C>G (p.Ile3536Met)
n.4728C>G
c.3743C>G
n.1864C>G
n.1814C>G
c.1515C>G (p.Ile505Met)
c.7995C>G (p.Ile2665Met)
c.13098C>G (p.Ile4366Met)
c.8885C>G
c.3740C>G
c.3674C>G
n.7809C>G
c.7998C>G (p.Ile2666Met)
c.12663C>G (p.Ile4221Met)
c.3675C>G
n.2113C>G
c.5779C>G
c.2949C>G (p.Ile983Met)
n.10980C>G
c.*10618C>G (n.*10618C>G)
c.13314C>G (p.Ile4438Met)
c.13311C>G (p.Ile4437Met)
c.13149C>G (p.Ile4383Met)
c.13242C>G (p.Ile4414Met)
c.13146C>G (p.Ile4382Met)
c.13266C>G (p.Ile4422Met)
c.13194C>G (p.Ile4398Met)
c.13161C>G (p.Ile4387Met)
c.13077C>G (p.Ile4359Met)
c.12399C>G (p.Ile4133Met)
c.10860C>G (p.Ile3620Met)
c.13281C>G (p.Ile4427Met)
c.13263C>G (p.Ile4421Met)
c.13239C>G (p.Ile4413Met)
c.13167C>G (p.Ile4389Met)
c.13131C>G (p.Ile4377Met)
c.9984C>G (p.Ile3328Met)
c.9588C>G (p.Ile3196Met)
7g.152148829G>TCA458884823KMT2Cc.1286C>A
n.2230C>A
c.13269C>A (p.Ile4423=)
n.2398C>A
n.8290C>A
c.3671C>A
c.10608C>A (p.Ile3536=)
n.4728C>A
c.3743C>A
n.1864C>A
n.1814C>A
c.1515C>A (p.Ile505=)
c.7995C>A (p.Ile2665=)
c.13098C>A (p.Ile4366=)
c.8885C>A
c.3740C>A
c.3674C>A
n.7809C>A
c.7998C>A (p.Ile2666=)
c.12663C>A (p.Ile4221=)
c.3675C>A
n.2113C>A
c.5779C>A
c.2949C>A (p.Ile983=)
n.10980C>A
c.*10618C>A (n.*10618C>A)
c.13314C>A (p.Ile4438=)
c.13311C>A (p.Ile4437=)
c.13149C>A (p.Ile4383=)
c.13242C>A (p.Ile4414=)
c.13146C>A (p.Ile4382=)
c.13266C>A (p.Ile4422=)
c.13194C>A (p.Ile4398=)
c.13161C>A (p.Ile4387=)
c.13077C>A (p.Ile4359=)
c.12399C>A (p.Ile4133=)
c.10860C>A (p.Ile3620=)
c.13281C>A (p.Ile4427=)
c.13263C>A (p.Ile4421=)
c.13239C>A (p.Ile4413=)
c.13167C>A (p.Ile4389=)
c.13131C>A (p.Ile4377=)
c.9984C>A (p.Ile3328=)
c.9588C>A (p.Ile3196=)
7g.152148830A=CA1752986427KMT2Cc.1285T=
n.2229T=
c.13268T= (p.Ile4423=)
n.2397T=
n.8289T=
c.3670T=
c.10607T= (p.Ile3536=)
n.4727T=
c.3742T=
n.1863T=
n.1813T=
c.1514T= (p.Ile505=)
c.7994T= (p.Ile2665=)
c.13097T= (p.Ile4366=)
c.8884T=
c.3739T=
c.3673T=
n.7808T=
c.7997T= (p.Ile2666=)
c.12662T= (p.Ile4221=)
c.3674T=
n.2112T=
c.5778T=
c.2948T= (p.Ile983=)
n.10979T=
c.*10617T= (n.*10617T=)
c.13313T= (p.Ile4438=)
c.13310T= (p.Ile4437=)
c.13148T= (p.Ile4383=)
c.13241T= (p.Ile4414=)
c.13145T= (p.Ile4382=)
c.13265T= (p.Ile4422=)
c.13193T= (p.Ile4398=)
c.13160T= (p.Ile4387=)
c.13076T= (p.Ile4359=)
c.12398T= (p.Ile4133=)
c.10859T= (p.Ile3620=)
c.13280T= (p.Ile4427=)
c.13262T= (p.Ile4421=)
c.13238T= (p.Ile4413=)
c.13166T= (p.Ile4389=)
c.13130T= (p.Ile4377=)
c.9983T= (p.Ile3328=)
c.9587T= (p.Ile3196=)
7g.152148830A>CCA370093192KMT2Cc.1285T>G
n.2229T>G
c.13268T>G (p.Ile4423Ser)
n.2397T>G
n.8289T>G
c.3670T>G
c.10607T>G (p.Ile3536Ser)
n.4727T>G
c.3742T>G
n.1863T>G
n.1813T>G
c.1514T>G (p.Ile505Ser)
c.7994T>G (p.Ile2665Ser)
c.13097T>G (p.Ile4366Ser)
c.8884T>G
c.3739T>G
c.3673T>G
n.7808T>G
c.7997T>G (p.Ile2666Ser)
c.12662T>G (p.Ile4221Ser)
c.3674T>G
n.2112T>G
c.5778T>G
c.2948T>G (p.Ile983Ser)
n.10979T>G
c.*10617T>G (n.*10617T>G)
c.13313T>G (p.Ile4438Ser)
c.13310T>G (p.Ile4437Ser)
c.13148T>G (p.Ile4383Ser)
c.13241T>G (p.Ile4414Ser)
c.13145T>G (p.Ile4382Ser)
c.13265T>G (p.Ile4422Ser)
c.13193T>G (p.Ile4398Ser)
c.13160T>G (p.Ile4387Ser)
c.13076T>G (p.Ile4359Ser)
c.12398T>G (p.Ile4133Ser)
c.10859T>G (p.Ile3620Ser)
c.13280T>G (p.Ile4427Ser)
c.13262T>G (p.Ile4421Ser)
c.13238T>G (p.Ile4413Ser)
c.13166T>G (p.Ile4389Ser)
c.13130T>G (p.Ile4377Ser)
c.9983T>G (p.Ile3328Ser)
c.9587T>G (p.Ile3196Ser)
7g.152148830A>GCA370093193KMT2Cc.1285T>C
n.2229T>C
c.13268T>C (p.Ile4423Thr)
n.2397T>C
n.8289T>C
c.3670T>C
c.10607T>C (p.Ile3536Thr)
n.4727T>C
c.3742T>C
n.1863T>C
n.1813T>C
c.1514T>C (p.Ile505Thr)
c.7994T>C (p.Ile2665Thr)
c.13097T>C (p.Ile4366Thr)
c.8884T>C
c.3739T>C
c.3673T>C
n.7808T>C
c.7997T>C (p.Ile2666Thr)
c.12662T>C (p.Ile4221Thr)
c.3674T>C
n.2112T>C
c.5778T>C
c.2948T>C (p.Ile983Thr)
n.10979T>C
c.*10617T>C (n.*10617T>C)
c.13313T>C (p.Ile4438Thr)
c.13310T>C (p.Ile4437Thr)
c.13148T>C (p.Ile4383Thr)
c.13241T>C (p.Ile4414Thr)
c.13145T>C (p.Ile4382Thr)
c.13265T>C (p.Ile4422Thr)
c.13193T>C (p.Ile4398Thr)
c.13160T>C (p.Ile4387Thr)
c.13076T>C (p.Ile4359Thr)
c.12398T>C (p.Ile4133Thr)
c.10859T>C (p.Ile3620Thr)
c.13280T>C (p.Ile4427Thr)
c.13262T>C (p.Ile4421Thr)
c.13238T>C (p.Ile4413Thr)
c.13166T>C (p.Ile4389Thr)
c.13130T>C (p.Ile4377Thr)
c.9983T>C (p.Ile3328Thr)
c.9587T>C (p.Ile3196Thr)
7g.152148830A>TCA370093195KMT2Cc.1285T>A
n.2229T>A
c.13268T>A (p.Ile4423Asn)
n.2397T>A
n.8289T>A
c.3670T>A
c.10607T>A (p.Ile3536Asn)
n.4727T>A
c.3742T>A
n.1863T>A
n.1813T>A
c.1514T>A (p.Ile505Asn)
c.7994T>A (p.Ile2665Asn)
c.13097T>A (p.Ile4366Asn)
c.8884T>A
c.3739T>A
c.3673T>A
n.7808T>A
c.7997T>A (p.Ile2666Asn)
c.12662T>A (p.Ile4221Asn)
c.3674T>A
n.2112T>A
c.5778T>A
c.2948T>A (p.Ile983Asn)
n.10979T>A
c.*10617T>A (n.*10617T>A)
c.13313T>A (p.Ile4438Asn)
c.13310T>A (p.Ile4437Asn)
c.13148T>A (p.Ile4383Asn)
c.13241T>A (p.Ile4414Asn)
c.13145T>A (p.Ile4382Asn)
c.13265T>A (p.Ile4422Asn)
c.13193T>A (p.Ile4398Asn)
c.13160T>A (p.Ile4387Asn)
c.13076T>A (p.Ile4359Asn)
c.12398T>A (p.Ile4133Asn)
c.10859T>A (p.Ile3620Asn)
c.13280T>A (p.Ile4427Asn)
c.13262T>A (p.Ile4421Asn)
c.13238T>A (p.Ile4413Asn)
c.13166T>A (p.Ile4389Asn)
c.13130T>A (p.Ile4377Asn)
c.9983T>A (p.Ile3328Asn)
c.9587T>A (p.Ile3196Asn)
dbSNP gnomAD v4
7g.152148831T>ACA370093196KMT2Cc.1284A>T
n.2228A>T
c.13267A>T (p.Ile4423Phe)
n.2396A>T
n.8288A>T
c.3669A>T
c.10606A>T (p.Ile3536Phe)
n.4726A>T
c.3741A>T
n.1862A>T
n.1812A>T
c.1513A>T (p.Ile505Phe)
c.7993A>T (p.Ile2665Phe)
c.13096A>T (p.Ile4366Phe)
c.8883A>T
c.3738A>T
c.3672A>T
n.7807A>T
c.7996A>T (p.Ile2666Phe)
c.12661A>T (p.Ile4221Phe)
c.3673A>T
n.2111A>T
c.5777A>T
c.2947A>T (p.Ile983Phe)
n.10978A>T
c.*10616A>T (n.*10616A>T)
c.13312A>T (p.Ile4438Phe)
c.13309A>T (p.Ile4437Phe)
c.13147A>T (p.Ile4383Phe)
c.13240A>T (p.Ile4414Phe)
c.13144A>T (p.Ile4382Phe)
c.13264A>T (p.Ile4422Phe)
c.13192A>T (p.Ile4398Phe)
c.13159A>T (p.Ile4387Phe)
c.13075A>T (p.Ile4359Phe)
c.12397A>T (p.Ile4133Phe)
c.10858A>T (p.Ile3620Phe)
c.13279A>T (p.Ile4427Phe)
c.13261A>T (p.Ile4421Phe)
c.13237A>T (p.Ile4413Phe)
c.13165A>T (p.Ile4389Phe)
c.13129A>T (p.Ile4377Phe)
c.9982A>T (p.Ile3328Phe)
c.9586A>T (p.Ile3196Phe)
7g.152148831T>CCA370093198KMT2Cc.1284A>G
n.2228A>G
c.13267A>G (p.Ile4423Val)
n.2396A>G
n.8288A>G
c.3669A>G
c.10606A>G (p.Ile3536Val)
n.4726A>G
c.3741A>G
n.1862A>G
n.1812A>G
c.1513A>G (p.Ile505Val)
c.7993A>G (p.Ile2665Val)
c.13096A>G (p.Ile4366Val)
c.8883A>G
c.3738A>G
c.3672A>G
n.7807A>G
c.7996A>G (p.Ile2666Val)
c.12661A>G (p.Ile4221Val)
c.3673A>G
n.2111A>G
c.5777A>G
c.2947A>G (p.Ile983Val)
n.10978A>G
c.*10616A>G (n.*10616A>G)
c.13312A>G (p.Ile4438Val)
c.13309A>G (p.Ile4437Val)
c.13147A>G (p.Ile4383Val)
c.13240A>G (p.Ile4414Val)
c.13144A>G (p.Ile4382Val)
c.13264A>G (p.Ile4422Val)
c.13192A>G (p.Ile4398Val)
c.13159A>G (p.Ile4387Val)
c.13075A>G (p.Ile4359Val)
c.12397A>G (p.Ile4133Val)
c.10858A>G (p.Ile3620Val)
c.13279A>G (p.Ile4427Val)
c.13261A>G (p.Ile4421Val)
c.13237A>G (p.Ile4413Val)
c.13165A>G (p.Ile4389Val)
c.13129A>G (p.Ile4377Val)
c.9982A>G (p.Ile3328Val)
c.9586A>G (p.Ile3196Val)
gnomAD v4
7g.152148831T>GCA370093199KMT2Cc.1284A>C
n.2228A>C
c.13267A>C (p.Ile4423Leu)
n.2396A>C
n.8288A>C
c.3669A>C
c.10606A>C (p.Ile3536Leu)
n.4726A>C
c.3741A>C
n.1862A>C
n.1812A>C
c.1513A>C (p.Ile505Leu)
c.7993A>C (p.Ile2665Leu)
c.13096A>C (p.Ile4366Leu)
c.8883A>C
c.3738A>C
c.3672A>C
n.7807A>C
c.7996A>C (p.Ile2666Leu)
c.12661A>C (p.Ile4221Leu)
c.3673A>C
n.2111A>C
c.5777A>C
c.2947A>C (p.Ile983Leu)
n.10978A>C
c.*10616A>C (n.*10616A>C)
c.13312A>C (p.Ile4438Leu)
c.13309A>C (p.Ile4437Leu)
c.13147A>C (p.Ile4383Leu)
c.13240A>C (p.Ile4414Leu)
c.13144A>C (p.Ile4382Leu)
c.13264A>C (p.Ile4422Leu)
c.13192A>C (p.Ile4398Leu)
c.13159A>C (p.Ile4387Leu)
c.13075A>C (p.Ile4359Leu)
c.12397A>C (p.Ile4133Leu)
c.10858A>C (p.Ile3620Leu)
c.13279A>C (p.Ile4427Leu)
c.13261A>C (p.Ile4421Leu)
c.13237A>C (p.Ile4413Leu)
c.13165A>C (p.Ile4389Leu)
c.13129A>C (p.Ile4377Leu)
c.9982A>C (p.Ile3328Leu)
c.9586A>C (p.Ile3196Leu)
7g.152148832T>ACA458884829KMT2Cc.1283A>T
n.2227A>T
c.13266A>T (p.Val4422=)
n.2395A>T
n.8287A>T
c.3668A>T
c.10605A>T (p.Val3535=)
n.4725A>T
c.3740A>T
n.1861A>T
n.1811A>T
c.1512A>T (p.Val504=)
c.7992A>T (p.Val2664=)
c.13095A>T (p.Val4365=)
c.8882A>T
c.3737A>T
c.3671A>T
n.7806A>T
c.7995A>T (p.Val2665=)
c.12660A>T (p.Val4220=)
c.3672A>T
n.2110A>T
c.5776A>T
c.2946A>T (p.Val982=)
n.10977A>T
c.*10615A>T (n.*10615A>T)
c.13311A>T (p.Val4437=)
c.13308A>T (p.Val4436=)
c.13146A>T (p.Val4382=)
c.13239A>T (p.Val4413=)
c.13143A>T (p.Val4381=)
c.13263A>T (p.Val4421=)
c.13191A>T (p.Val4397=)
c.13158A>T (p.Val4386=)
c.13074A>T (p.Val4358=)
c.12396A>T (p.Val4132=)
c.10857A>T (p.Val3619=)
c.13278A>T (p.Val4426=)
c.13260A>T (p.Val4420=)
c.13236A>T (p.Val4412=)
c.13164A>T (p.Val4388=)
c.13128A>T (p.Val4376=)
c.9981A>T (p.Val3327=)
c.9585A>T (p.Val3195=)
7g.152148832T>CCA458884830KMT2Cc.1283A>G
n.2227A>G
c.13266A>G (p.Val4422=)
n.2395A>G
n.8287A>G
c.3668A>G
c.10605A>G (p.Val3535=)
n.4725A>G
c.3740A>G
n.1861A>G
n.1811A>G
c.1512A>G (p.Val504=)
c.7992A>G (p.Val2664=)
c.13095A>G (p.Val4365=)
c.8882A>G
c.3737A>G
c.3671A>G
n.7806A>G
c.7995A>G (p.Val2665=)
c.12660A>G (p.Val4220=)
c.3672A>G
n.2110A>G
c.5776A>G
c.2946A>G (p.Val982=)
n.10977A>G
c.*10615A>G (n.*10615A>G)
c.13311A>G (p.Val4437=)
c.13308A>G (p.Val4436=)
c.13146A>G (p.Val4382=)
c.13239A>G (p.Val4413=)
c.13143A>G (p.Val4381=)
c.13263A>G (p.Val4421=)
c.13191A>G (p.Val4397=)
c.13158A>G (p.Val4386=)
c.13074A>G (p.Val4358=)
c.12396A>G (p.Val4132=)
c.10857A>G (p.Val3619=)
c.13278A>G (p.Val4426=)
c.13260A>G (p.Val4420=)
c.13236A>G (p.Val4412=)
c.13164A>G (p.Val4388=)
c.13128A>G (p.Val4376=)
c.9981A>G (p.Val3327=)
c.9585A>G (p.Val3195=)
7g.152148832T>GCA458884831KMT2Cc.1283A>C
n.2227A>C
c.13266A>C (p.Val4422=)
n.2395A>C
n.8287A>C
c.3668A>C
c.10605A>C (p.Val3535=)
n.4725A>C
c.3740A>C
n.1861A>C
n.1811A>C
c.1512A>C (p.Val504=)
c.7992A>C (p.Val2664=)
c.13095A>C (p.Val4365=)
c.8882A>C
c.3737A>C
c.3671A>C
n.7806A>C
c.7995A>C (p.Val2665=)
c.12660A>C (p.Val4220=)
c.3672A>C
n.2110A>C
c.5776A>C
c.2946A>C (p.Val982=)
n.10977A>C
c.*10615A>C (n.*10615A>C)
c.13311A>C (p.Val4437=)
c.13308A>C (p.Val4436=)
c.13146A>C (p.Val4382=)
c.13239A>C (p.Val4413=)
c.13143A>C (p.Val4381=)
c.13263A>C (p.Val4421=)
c.13191A>C (p.Val4397=)
c.13158A>C (p.Val4386=)
c.13074A>C (p.Val4358=)
c.12396A>C (p.Val4132=)
c.10857A>C (p.Val3619=)
c.13278A>C (p.Val4426=)
c.13260A>C (p.Val4420=)
c.13236A>C (p.Val4412=)
c.13164A>C (p.Val4388=)
c.13128A>C (p.Val4376=)
c.9981A>C (p.Val3327=)
c.9585A>C (p.Val3195=)
7g.152148833A>CCA370093201KMT2Cc.1282T>G
n.2226T>G
c.13265T>G (p.Val4422Gly)
n.2394T>G
n.8286T>G
c.3667T>G
c.10604T>G (p.Val3535Gly)
n.4724T>G
c.3739T>G
n.1860T>G
n.1810T>G
c.1511T>G (p.Val504Gly)
c.7991T>G (p.Val2664Gly)
c.13094T>G (p.Val4365Gly)
c.8881T>G
c.3736T>G
c.3670T>G
n.7805T>G
c.7994T>G (p.Val2665Gly)
c.12659T>G (p.Val4220Gly)
c.3671T>G
n.2109T>G
c.5775T>G
c.2945T>G (p.Val982Gly)
n.10976T>G
c.*10614T>G (n.*10614T>G)
c.13310T>G (p.Val4437Gly)
c.13307T>G (p.Val4436Gly)
c.13145T>G (p.Val4382Gly)
c.13238T>G (p.Val4413Gly)
c.13142T>G (p.Val4381Gly)
c.13262T>G (p.Val4421Gly)
c.13190T>G (p.Val4397Gly)
c.13157T>G (p.Val4386Gly)
c.13073T>G (p.Val4358Gly)
c.12395T>G (p.Val4132Gly)
c.10856T>G (p.Val3619Gly)
c.13277T>G (p.Val4426Gly)
c.13259T>G (p.Val4420Gly)
c.13235T>G (p.Val4412Gly)
c.13163T>G (p.Val4388Gly)
c.13127T>G (p.Val4376Gly)
c.9980T>G (p.Val3327Gly)
c.9584T>G (p.Val3195Gly)
7g.152148833A>GCA370093204KMT2Cc.1282T>C
n.2226T>C
c.13265T>C (p.Val4422Ala)
n.2394T>C
n.8286T>C
c.3667T>C
c.10604T>C (p.Val3535Ala)
n.4724T>C
c.3739T>C
n.1860T>C
n.1810T>C
c.1511T>C (p.Val504Ala)
c.7991T>C (p.Val2664Ala)
c.13094T>C (p.Val4365Ala)
c.8881T>C
c.3736T>C
c.3670T>C
n.7805T>C
c.7994T>C (p.Val2665Ala)
c.12659T>C (p.Val4220Ala)
c.3671T>C
n.2109T>C
c.5775T>C
c.2945T>C (p.Val982Ala)
n.10976T>C
c.*10614T>C (n.*10614T>C)
c.13310T>C (p.Val4437Ala)
c.13307T>C (p.Val4436Ala)
c.13145T>C (p.Val4382Ala)
c.13238T>C (p.Val4413Ala)
c.13142T>C (p.Val4381Ala)
c.13262T>C (p.Val4421Ala)
c.13190T>C (p.Val4397Ala)
c.13157T>C (p.Val4386Ala)
c.13073T>C (p.Val4358Ala)
c.12395T>C (p.Val4132Ala)
c.10856T>C (p.Val3619Ala)
c.13277T>C (p.Val4426Ala)
c.13259T>C (p.Val4420Ala)
c.13235T>C (p.Val4412Ala)
c.13163T>C (p.Val4388Ala)
c.13127T>C (p.Val4376Ala)
c.9980T>C (p.Val3327Ala)
c.9584T>C (p.Val3195Ala)
gnomAD v4
7g.152148833A>TCA370093203KMT2Cc.1282T>A
n.2226T>A
c.13265T>A (p.Val4422Glu)
n.2394T>A
n.8286T>A
c.3667T>A
c.10604T>A (p.Val3535Glu)
n.4724T>A
c.3739T>A
n.1860T>A
n.1810T>A
c.1511T>A (p.Val504Glu)
c.7991T>A (p.Val2664Glu)
c.13094T>A (p.Val4365Glu)
c.8881T>A
c.3736T>A
c.3670T>A
n.7805T>A
c.7994T>A (p.Val2665Glu)
c.12659T>A (p.Val4220Glu)
c.3671T>A
n.2109T>A
c.5775T>A
c.2945T>A (p.Val982Glu)
n.10976T>A
c.*10614T>A (n.*10614T>A)
c.13310T>A (p.Val4437Glu)
c.13307T>A (p.Val4436Glu)
c.13145T>A (p.Val4382Glu)
c.13238T>A (p.Val4413Glu)
c.13142T>A (p.Val4381Glu)
c.13262T>A (p.Val4421Glu)
c.13190T>A (p.Val4397Glu)
c.13157T>A (p.Val4386Glu)
c.13073T>A (p.Val4358Glu)
c.12395T>A (p.Val4132Glu)
c.10856T>A (p.Val3619Glu)
c.13277T>A (p.Val4426Glu)
c.13259T>A (p.Val4420Glu)
c.13235T>A (p.Val4412Glu)
c.13163T>A (p.Val4388Glu)
c.13127T>A (p.Val4376Glu)
c.9980T>A (p.Val3327Glu)
c.9584T>A (p.Val3195Glu)
7g.152148834C>ACA4578672KMT2Cc.1281G>T
n.2225G>T
c.13264G>T (p.Val4422Leu)
n.2393G>T
n.8285G>T
c.3666G>T
c.10603G>T (p.Val3535Leu)
n.4723G>T
c.3738G>T
n.1859G>T
n.1809G>T
c.1510G>T (p.Val504Leu)
c.7990G>T (p.Val2664Leu)
c.13093G>T (p.Val4365Leu)
c.8880G>T
c.3735G>T
c.3669G>T
n.7804G>T
c.7993G>T (p.Val2665Leu)
c.12658G>T (p.Val4220Leu)
c.3670G>T
n.2108G>T
c.5774G>T
c.2944G>T (p.Val982Leu)
n.10975G>T
c.*10613G>T (n.*10613G>T)
c.13309G>T (p.Val4437Leu)
c.13306G>T (p.Val4436Leu)
c.13144G>T (p.Val4382Leu)
c.13237G>T (p.Val4413Leu)
c.13141G>T (p.Val4381Leu)
c.13261G>T (p.Val4421Leu)
c.13189G>T (p.Val4397Leu)
c.13156G>T (p.Val4386Leu)
c.13072G>T (p.Val4358Leu)
c.12394G>T (p.Val4132Leu)
c.10855G>T (p.Val3619Leu)
c.13276G>T (p.Val4426Leu)
c.13258G>T (p.Val4420Leu)
c.13234G>T (p.Val4412Leu)
c.13162G>T (p.Val4388Leu)
c.13126G>T (p.Val4376Leu)
c.9979G>T (p.Val3327Leu)
c.9583G>T (p.Val3195Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148834C=CA1752986435KMT2Cc.1281G=
n.2225G=
c.13264G= (p.Val4422=)
n.2393G=
n.8285G=
c.3666G=
c.10603G= (p.Val3535=)
n.4723G=
c.3738G=
n.1859G=
n.1809G=
c.1510G= (p.Val504=)
c.7990G= (p.Val2664=)
c.13093G= (p.Val4365=)
c.8880G=
c.3735G=
c.3669G=
n.7804G=
c.7993G= (p.Val2665=)
c.12658G= (p.Val4220=)
c.3670G=
n.2108G=
c.5774G=
c.2944G= (p.Val982=)
n.10975G=
c.*10613G= (n.*10613G=)
c.13309G= (p.Val4437=)
c.13306G= (p.Val4436=)
c.13144G= (p.Val4382=)
c.13237G= (p.Val4413=)
c.13141G= (p.Val4381=)
c.13261G= (p.Val4421=)
c.13189G= (p.Val4397=)
c.13156G= (p.Val4386=)
c.13072G= (p.Val4358=)
c.12394G= (p.Val4132=)
c.10855G= (p.Val3619=)
c.13276G= (p.Val4426=)
c.13258G= (p.Val4420=)
c.13234G= (p.Val4412=)
c.13162G= (p.Val4388=)
c.13126G= (p.Val4376=)
c.9979G= (p.Val3327=)
c.9583G= (p.Val3195=)
7g.152148834C>GCA370093207KMT2Cc.1281G>C
n.2225G>C
c.13264G>C (p.Val4422Leu)
n.2393G>C
n.8285G>C
c.3666G>C
c.10603G>C (p.Val3535Leu)
n.4723G>C
c.3738G>C
n.1859G>C
n.1809G>C
c.1510G>C (p.Val504Leu)
c.7990G>C (p.Val2664Leu)
c.13093G>C (p.Val4365Leu)
c.8880G>C
c.3735G>C
c.3669G>C
n.7804G>C
c.7993G>C (p.Val2665Leu)
c.12658G>C (p.Val4220Leu)
c.3670G>C
n.2108G>C
c.5774G>C
c.2944G>C (p.Val982Leu)
n.10975G>C
c.*10613G>C (n.*10613G>C)
c.13309G>C (p.Val4437Leu)
c.13306G>C (p.Val4436Leu)
c.13144G>C (p.Val4382Leu)
c.13237G>C (p.Val4413Leu)
c.13141G>C (p.Val4381Leu)
c.13261G>C (p.Val4421Leu)
c.13189G>C (p.Val4397Leu)
c.13156G>C (p.Val4386Leu)
c.13072G>C (p.Val4358Leu)
c.12394G>C (p.Val4132Leu)
c.10855G>C (p.Val3619Leu)
c.13276G>C (p.Val4426Leu)
c.13258G>C (p.Val4420Leu)
c.13234G>C (p.Val4412Leu)
c.13162G>C (p.Val4388Leu)
c.13126G>C (p.Val4376Leu)
c.9979G>C (p.Val3327Leu)
c.9583G>C (p.Val3195Leu)
7g.152148834C>TCA4578671KMT2Cc.1281G>A
n.2225G>A
c.13264G>A (p.Val4422Ile)
n.2393G>A
n.8285G>A
c.3666G>A
c.10603G>A (p.Val3535Ile)
n.4723G>A
c.3738G>A
n.1859G>A
n.1809G>A
c.1510G>A (p.Val504Ile)
c.7990G>A (p.Val2664Ile)
c.13093G>A (p.Val4365Ile)
c.8880G>A
c.3735G>A
c.3669G>A
n.7804G>A
c.7993G>A (p.Val2665Ile)
c.12658G>A (p.Val4220Ile)
c.3670G>A
n.2108G>A
c.5774G>A
c.2944G>A (p.Val982Ile)
n.10975G>A
c.*10613G>A (n.*10613G>A)
c.13309G>A (p.Val4437Ile)
c.13306G>A (p.Val4436Ile)
c.13144G>A (p.Val4382Ile)
c.13237G>A (p.Val4413Ile)
c.13141G>A (p.Val4381Ile)
c.13261G>A (p.Val4421Ile)
c.13189G>A (p.Val4397Ile)
c.13156G>A (p.Val4386Ile)
c.13072G>A (p.Val4358Ile)
c.12394G>A (p.Val4132Ile)
c.10855G>A (p.Val3619Ile)
c.13276G>A (p.Val4426Ile)
c.13258G>A (p.Val4420Ile)
c.13234G>A (p.Val4412Ile)
c.13162G>A (p.Val4388Ile)
c.13126G>A (p.Val4376Ile)
c.9979G>A (p.Val3327Ile)
c.9583G>A (p.Val3195Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.152148835A>CCA370093209KMT2Cc.1280T>G
n.2224T>G
c.13263T>G (p.Ile4421Met)
n.2392T>G
n.8284T>G
c.3665T>G
c.10602T>G (p.Ile3534Met)
n.4722T>G
c.3737T>G
n.1858T>G
n.1808T>G
c.1509T>G (p.Ile503Met)
c.7989T>G (p.Ile2663Met)
c.13092T>G (p.Ile4364Met)
c.8879T>G
c.3734T>G
c.3668T>G
n.7803T>G
c.7992T>G (p.Ile2664Met)
c.12657T>G (p.Ile4219Met)
c.3669T>G
n.2107T>G
c.5773T>G
c.2943T>G (p.Ile981Met)
n.10974T>G
c.*10612T>G (n.*10612T>G)
c.13308T>G (p.Ile4436Met)
c.13305T>G (p.Ile4435Met)
c.13143T>G (p.Ile4381Met)
c.13236T>G (p.Ile4412Met)
c.13140T>G (p.Ile4380Met)
c.13260T>G (p.Ile4420Met)
c.13188T>G (p.Ile4396Met)
c.13155T>G (p.Ile4385Met)
c.13071T>G (p.Ile4357Met)
c.12393T>G (p.Ile4131Met)
c.10854T>G (p.Ile3618Met)
c.13275T>G (p.Ile4425Met)
c.13257T>G (p.Ile4419Met)
c.13233T>G (p.Ile4411Met)
c.13161T>G (p.Ile4387Met)
c.13125T>G (p.Ile4375Met)
c.9978T>G (p.Ile3326Met)
c.9582T>G (p.Ile3194Met)
7g.152148835A>GCA458884836KMT2Cc.1280T>C
n.2224T>C
c.13263T>C (p.Ile4421=)
n.2392T>C
n.8284T>C
c.3665T>C
c.10602T>C (p.Ile3534=)
n.4722T>C
c.3737T>C
n.1858T>C
n.1808T>C
c.1509T>C (p.Ile503=)
c.7989T>C (p.Ile2663=)
c.13092T>C (p.Ile4364=)
c.8879T>C
c.3734T>C
c.3668T>C
n.7803T>C
c.7992T>C (p.Ile2664=)
c.12657T>C (p.Ile4219=)
c.3669T>C
n.2107T>C
c.5773T>C
c.2943T>C (p.Ile981=)
n.10974T>C
c.*10612T>C (n.*10612T>C)
c.13308T>C (p.Ile4436=)
c.13305T>C (p.Ile4435=)
c.13143T>C (p.Ile4381=)
c.13236T>C (p.Ile4412=)
c.13140T>C (p.Ile4380=)
c.13260T>C (p.Ile4420=)
c.13188T>C (p.Ile4396=)
c.13155T>C (p.Ile4385=)
c.13071T>C (p.Ile4357=)
c.12393T>C (p.Ile4131=)
c.10854T>C (p.Ile3618=)
c.13275T>C (p.Ile4425=)
c.13257T>C (p.Ile4419=)
c.13233T>C (p.Ile4411=)
c.13161T>C (p.Ile4387=)
c.13125T>C (p.Ile4375=)
c.9978T>C (p.Ile3326=)
c.9582T>C (p.Ile3194=)
7g.152148835A>TCA458884838KMT2Cc.1280T>A
n.2224T>A
c.13263T>A (p.Ile4421=)
n.2392T>A
n.8284T>A
c.3665T>A
c.10602T>A (p.Ile3534=)
n.4722T>A
c.3737T>A
n.1858T>A
n.1808T>A
c.1509T>A (p.Ile503=)
c.7989T>A (p.Ile2663=)
c.13092T>A (p.Ile4364=)
c.8879T>A
c.3734T>A
c.3668T>A
n.7803T>A
c.7992T>A (p.Ile2664=)
c.12657T>A (p.Ile4219=)
c.3669T>A
n.2107T>A
c.5773T>A
c.2943T>A (p.Ile981=)
n.10974T>A
c.*10612T>A (n.*10612T>A)
c.13308T>A (p.Ile4436=)
c.13305T>A (p.Ile4435=)
c.13143T>A (p.Ile4381=)
c.13236T>A (p.Ile4412=)
c.13140T>A (p.Ile4380=)
c.13260T>A (p.Ile4420=)
c.13188T>A (p.Ile4396=)
c.13155T>A (p.Ile4385=)
c.13071T>A (p.Ile4357=)
c.12393T>A (p.Ile4131=)
c.10854T>A (p.Ile3618=)
c.13275T>A (p.Ile4425=)
c.13257T>A (p.Ile4419=)
c.13233T>A (p.Ile4411=)
c.13161T>A (p.Ile4387=)
c.13125T>A (p.Ile4375=)
c.9978T>A (p.Ile3326=)
c.9582T>A (p.Ile3194=)
7g.152148836A=CA1752986438KMT2Cc.1279T=
n.2223T=
c.13262T= (p.Ile4421=)
n.2391T=
n.8283T=
c.3664T=
c.10601T= (p.Ile3534=)
n.4721T=
c.3736T=
n.1857T=
n.1807T=
c.1508T= (p.Ile503=)
c.7988T= (p.Ile2663=)
c.13091T= (p.Ile4364=)
c.8878T=
c.3733T=
c.3667T=
n.7802T=
c.7991T= (p.Ile2664=)
c.12656T= (p.Ile4219=)
c.3668T=
n.2106T=
c.5772T=
c.2942T= (p.Ile981=)
n.10973T=
c.*10611T= (n.*10611T=)
c.13307T= (p.Ile4436=)
c.13304T= (p.Ile4435=)
c.13142T= (p.Ile4381=)
c.13235T= (p.Ile4412=)
c.13139T= (p.Ile4380=)
c.13259T= (p.Ile4420=)
c.13187T= (p.Ile4396=)
c.13154T= (p.Ile4385=)
c.13070T= (p.Ile4357=)
c.12392T= (p.Ile4131=)
c.10853T= (p.Ile3618=)
c.13274T= (p.Ile4425=)
c.13256T= (p.Ile4419=)
c.13232T= (p.Ile4411=)
c.13160T= (p.Ile4387=)
c.13124T= (p.Ile4375=)
c.9977T= (p.Ile3326=)
c.9581T= (p.Ile3194=)
7g.152148836A>CCA370093210KMT2Cc.1279T>G
n.2223T>G
c.13262T>G (p.Ile4421Ser)
n.2391T>G
n.8283T>G
c.3664T>G
c.10601T>G (p.Ile3534Ser)
n.4721T>G
c.3736T>G
n.1857T>G
n.1807T>G
c.1508T>G (p.Ile503Ser)
c.7988T>G (p.Ile2663Ser)
c.13091T>G (p.Ile4364Ser)
c.8878T>G
c.3733T>G
c.3667T>G
n.7802T>G
c.7991T>G (p.Ile2664Ser)
c.12656T>G (p.Ile4219Ser)
c.3668T>G
n.2106T>G
c.5772T>G
c.2942T>G (p.Ile981Ser)
n.10973T>G
c.*10611T>G (n.*10611T>G)
c.13307T>G (p.Ile4436Ser)
c.13304T>G (p.Ile4435Ser)
c.13142T>G (p.Ile4381Ser)
c.13235T>G (p.Ile4412Ser)
c.13139T>G (p.Ile4380Ser)
c.13259T>G (p.Ile4420Ser)
c.13187T>G (p.Ile4396Ser)
c.13154T>G (p.Ile4385Ser)
c.13070T>G (p.Ile4357Ser)
c.12392T>G (p.Ile4131Ser)
c.10853T>G (p.Ile3618Ser)
c.13274T>G (p.Ile4425Ser)
c.13256T>G (p.Ile4419Ser)
c.13232T>G (p.Ile4411Ser)
c.13160T>G (p.Ile4387Ser)
c.13124T>G (p.Ile4375Ser)
c.9977T>G (p.Ile3326Ser)
c.9581T>G (p.Ile3194Ser)
gnomAD v4
7g.152148836A>GCA4578673KMT2Cc.1279T>C
n.2223T>C
c.13262T>C (p.Ile4421Thr)
n.2391T>C
n.8283T>C
c.3664T>C
c.10601T>C (p.Ile3534Thr)
n.4721T>C
c.3736T>C
n.1857T>C
n.1807T>C
c.1508T>C (p.Ile503Thr)
c.7988T>C (p.Ile2663Thr)
c.13091T>C (p.Ile4364Thr)
c.8878T>C
c.3733T>C
c.3667T>C
n.7802T>C
c.7991T>C (p.Ile2664Thr)
c.12656T>C (p.Ile4219Thr)
c.3668T>C
n.2106T>C
c.5772T>C
c.2942T>C (p.Ile981Thr)
n.10973T>C
c.*10611T>C (n.*10611T>C)
c.13307T>C (p.Ile4436Thr)
c.13304T>C (p.Ile4435Thr)
c.13142T>C (p.Ile4381Thr)
c.13235T>C (p.Ile4412Thr)
c.13139T>C (p.Ile4380Thr)
c.13259T>C (p.Ile4420Thr)
c.13187T>C (p.Ile4396Thr)
c.13154T>C (p.Ile4385Thr)
c.13070T>C (p.Ile4357Thr)
c.12392T>C (p.Ile4131Thr)
c.10853T>C (p.Ile3618Thr)
c.13274T>C (p.Ile4425Thr)
c.13256T>C (p.Ile4419Thr)
c.13232T>C (p.Ile4411Thr)
c.13160T>C (p.Ile4387Thr)
c.13124T>C (p.Ile4375Thr)
c.9977T>C (p.Ile3326Thr)
c.9581T>C (p.Ile3194Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148836A>TCA370093212KMT2Cc.1279T>A
n.2223T>A
c.13262T>A (p.Ile4421Asn)
n.2391T>A
n.8283T>A
c.3664T>A
c.10601T>A (p.Ile3534Asn)
n.4721T>A
c.3736T>A
n.1857T>A
n.1807T>A
c.1508T>A (p.Ile503Asn)
c.7988T>A (p.Ile2663Asn)
c.13091T>A (p.Ile4364Asn)
c.8878T>A
c.3733T>A
c.3667T>A
n.7802T>A
c.7991T>A (p.Ile2664Asn)
c.12656T>A (p.Ile4219Asn)
c.3668T>A
n.2106T>A
c.5772T>A
c.2942T>A (p.Ile981Asn)
n.10973T>A
c.*10611T>A (n.*10611T>A)
c.13307T>A (p.Ile4436Asn)
c.13304T>A (p.Ile4435Asn)
c.13142T>A (p.Ile4381Asn)
c.13235T>A (p.Ile4412Asn)
c.13139T>A (p.Ile4380Asn)
c.13259T>A (p.Ile4420Asn)
c.13187T>A (p.Ile4396Asn)
c.13154T>A (p.Ile4385Asn)
c.13070T>A (p.Ile4357Asn)
c.12392T>A (p.Ile4131Asn)
c.10853T>A (p.Ile3618Asn)
c.13274T>A (p.Ile4425Asn)
c.13256T>A (p.Ile4419Asn)
c.13232T>A (p.Ile4411Asn)
c.13160T>A (p.Ile4387Asn)
c.13124T>A (p.Ile4375Asn)
c.9977T>A (p.Ile3326Asn)
c.9581T>A (p.Ile3194Asn)
7g.152148837T>ACA370093213KMT2Cc.1278A>T
n.2222A>T
c.13261A>T (p.Ile4421Phe)
n.2390A>T
n.8282A>T
c.3663A>T
c.10600A>T (p.Ile3534Phe)
n.4720A>T
c.3735A>T
n.1856A>T
n.1806A>T
c.1507A>T (p.Ile503Phe)
c.7987A>T (p.Ile2663Phe)
c.13090A>T (p.Ile4364Phe)
c.8877A>T
c.3732A>T
c.3666A>T
n.7801A>T
c.7990A>T (p.Ile2664Phe)
c.12655A>T (p.Ile4219Phe)
c.3667A>T
n.2105A>T
c.5771A>T
c.2941A>T (p.Ile981Phe)
n.10972A>T
c.*10610A>T (n.*10610A>T)
c.13306A>T (p.Ile4436Phe)
c.13303A>T (p.Ile4435Phe)
c.13141A>T (p.Ile4381Phe)
c.13234A>T (p.Ile4412Phe)
c.13138A>T (p.Ile4380Phe)
c.13258A>T (p.Ile4420Phe)
c.13186A>T (p.Ile4396Phe)
c.13153A>T (p.Ile4385Phe)
c.13069A>T (p.Ile4357Phe)
c.12391A>T (p.Ile4131Phe)
c.10852A>T (p.Ile3618Phe)
c.13273A>T (p.Ile4425Phe)
c.13255A>T (p.Ile4419Phe)
c.13231A>T (p.Ile4411Phe)
c.13159A>T (p.Ile4387Phe)
c.13123A>T (p.Ile4375Phe)
c.9976A>T (p.Ile3326Phe)
c.9580A>T (p.Ile3194Phe)
7g.152148837T>CCA370093214KMT2Cc.1278A>G
n.2222A>G
c.13261A>G (p.Ile4421Val)
n.2390A>G
n.8282A>G
c.3663A>G
c.10600A>G (p.Ile3534Val)
n.4720A>G
c.3735A>G
n.1856A>G
n.1806A>G
c.1507A>G (p.Ile503Val)
c.7987A>G (p.Ile2663Val)
c.13090A>G (p.Ile4364Val)
c.8877A>G
c.3732A>G
c.3666A>G
n.7801A>G
c.7990A>G (p.Ile2664Val)
c.12655A>G (p.Ile4219Val)
c.3667A>G
n.2105A>G
c.5771A>G
c.2941A>G (p.Ile981Val)
n.10972A>G
c.*10610A>G (n.*10610A>G)
c.13306A>G (p.Ile4436Val)
c.13303A>G (p.Ile4435Val)
c.13141A>G (p.Ile4381Val)
c.13234A>G (p.Ile4412Val)
c.13138A>G (p.Ile4380Val)
c.13258A>G (p.Ile4420Val)
c.13186A>G (p.Ile4396Val)
c.13153A>G (p.Ile4385Val)
c.13069A>G (p.Ile4357Val)
c.12391A>G (p.Ile4131Val)
c.10852A>G (p.Ile3618Val)
c.13273A>G (p.Ile4425Val)
c.13255A>G (p.Ile4419Val)
c.13231A>G (p.Ile4411Val)
c.13159A>G (p.Ile4387Val)
c.13123A>G (p.Ile4375Val)
c.9976A>G (p.Ile3326Val)
c.9580A>G (p.Ile3194Val)
gnomAD v4
7g.152148837T>GCA370093216KMT2Cc.1278A>C
n.2222A>C
c.13261A>C (p.Ile4421Leu)
n.2390A>C
n.8282A>C
c.3663A>C
c.10600A>C (p.Ile3534Leu)
n.4720A>C
c.3735A>C
n.1856A>C
n.1806A>C
c.1507A>C (p.Ile503Leu)
c.7987A>C (p.Ile2663Leu)
c.13090A>C (p.Ile4364Leu)
c.8877A>C
c.3732A>C
c.3666A>C
n.7801A>C
c.7990A>C (p.Ile2664Leu)
c.12655A>C (p.Ile4219Leu)
c.3667A>C
n.2105A>C
c.5771A>C
c.2941A>C (p.Ile981Leu)
n.10972A>C
c.*10610A>C (n.*10610A>C)
c.13306A>C (p.Ile4436Leu)
c.13303A>C (p.Ile4435Leu)
c.13141A>C (p.Ile4381Leu)
c.13234A>C (p.Ile4412Leu)
c.13138A>C (p.Ile4380Leu)
c.13258A>C (p.Ile4420Leu)
c.13186A>C (p.Ile4396Leu)
c.13153A>C (p.Ile4385Leu)
c.13069A>C (p.Ile4357Leu)
c.12391A>C (p.Ile4131Leu)
c.10852A>C (p.Ile3618Leu)
c.13273A>C (p.Ile4425Leu)
c.13255A>C (p.Ile4419Leu)
c.13231A>C (p.Ile4411Leu)
c.13159A>C (p.Ile4387Leu)
c.13123A>C (p.Ile4375Leu)
c.9976A>C (p.Ile3326Leu)
c.9580A>C (p.Ile3194Leu)
7g.152148838A>CCA370093217KMT2Cc.1277T>G
n.2221T>G
c.13260T>G (p.His4420Gln)
n.2389T>G
n.8281T>G
c.3662T>G
c.10599T>G (p.His3533Gln)
n.4719T>G
c.3734T>G
n.1855T>G
n.1805T>G
c.1506T>G (p.His502Gln)
c.7986T>G (p.His2662Gln)
c.13089T>G (p.His4363Gln)
c.8876T>G
c.3731T>G
c.3665T>G
n.7800T>G
c.7989T>G (p.His2663Gln)
c.12654T>G (p.His4218Gln)
c.3666T>G
n.2104T>G
c.5770T>G
c.2940T>G (p.His980Gln)
n.10971T>G
c.*10609T>G (n.*10609T>G)
c.13305T>G (p.His4435Gln)
c.13302T>G (p.His4434Gln)
c.13140T>G (p.His4380Gln)
c.13233T>G (p.His4411Gln)
c.13137T>G (p.His4379Gln)
c.13257T>G (p.His4419Gln)
c.13185T>G (p.His4395Gln)
c.13152T>G (p.His4384Gln)
c.13068T>G (p.His4356Gln)
c.12390T>G (p.His4130Gln)
c.10851T>G (p.His3617Gln)
c.13272T>G (p.His4424Gln)
c.13254T>G (p.His4418Gln)
c.13230T>G (p.His4410Gln)
c.13158T>G (p.His4386Gln)
c.13122T>G (p.His4374Gln)
c.9975T>G (p.His3325Gln)
c.9579T>G (p.His3193Gln)
7g.152148838A>GCA458884840KMT2Cc.1277T>C
n.2221T>C
c.13260T>C (p.His4420=)
n.2389T>C
n.8281T>C
c.3662T>C
c.10599T>C (p.His3533=)
n.4719T>C
c.3734T>C
n.1855T>C
n.1805T>C
c.1506T>C (p.His502=)
c.7986T>C (p.His2662=)
c.13089T>C (p.His4363=)
c.8876T>C
c.3731T>C
c.3665T>C
n.7800T>C
c.7989T>C (p.His2663=)
c.12654T>C (p.His4218=)
c.3666T>C
n.2104T>C
c.5770T>C
c.2940T>C (p.His980=)
n.10971T>C
c.*10609T>C (n.*10609T>C)
c.13305T>C (p.His4435=)
c.13302T>C (p.His4434=)
c.13140T>C (p.His4380=)
c.13233T>C (p.His4411=)
c.13137T>C (p.His4379=)
c.13257T>C (p.His4419=)
c.13185T>C (p.His4395=)
c.13152T>C (p.His4384=)
c.13068T>C (p.His4356=)
c.12390T>C (p.His4130=)
c.10851T>C (p.His3617=)
c.13272T>C (p.His4424=)
c.13254T>C (p.His4418=)
c.13230T>C (p.His4410=)
c.13158T>C (p.His4386=)
c.13122T>C (p.His4374=)
c.9975T>C (p.His3325=)
c.9579T>C (p.His3193=)
7g.152148838A>TCA370093218KMT2Cc.1277T>A
n.2221T>A
c.13260T>A (p.His4420Gln)
n.2389T>A
n.8281T>A
c.3662T>A
c.10599T>A (p.His3533Gln)
n.4719T>A
c.3734T>A
n.1855T>A
n.1805T>A
c.1506T>A (p.His502Gln)
c.7986T>A (p.His2662Gln)
c.13089T>A (p.His4363Gln)
c.8876T>A
c.3731T>A
c.3665T>A
n.7800T>A
c.7989T>A (p.His2663Gln)
c.12654T>A (p.His4218Gln)
c.3666T>A
n.2104T>A
c.5770T>A
c.2940T>A (p.His980Gln)
n.10971T>A
c.*10609T>A (n.*10609T>A)
c.13305T>A (p.His4435Gln)
c.13302T>A (p.His4434Gln)
c.13140T>A (p.His4380Gln)
c.13233T>A (p.His4411Gln)
c.13137T>A (p.His4379Gln)
c.13257T>A (p.His4419Gln)
c.13185T>A (p.His4395Gln)
c.13152T>A (p.His4384Gln)
c.13068T>A (p.His4356Gln)
c.12390T>A (p.His4130Gln)
c.10851T>A (p.His3617Gln)
c.13272T>A (p.His4424Gln)
c.13254T>A (p.His4418Gln)
c.13230T>A (p.His4410Gln)
c.13158T>A (p.His4386Gln)
c.13122T>A (p.His4374Gln)
c.9975T>A (p.His3325Gln)
c.9579T>A (p.His3193Gln)
7g.152148839T>ACA370093221KMT2Cc.1276A>T
n.2220A>T
c.13259A>T (p.His4420Leu)
n.2388A>T
n.8280A>T
c.3661A>T
c.10598A>T (p.His3533Leu)
n.4718A>T
c.3733A>T
n.1854A>T
n.1804A>T
c.1505A>T (p.His502Leu)
c.7985A>T (p.His2662Leu)
c.13088A>T (p.His4363Leu)
c.8875A>T
c.3730A>T
c.3664A>T
n.7799A>T
c.7988A>T (p.His2663Leu)
c.12653A>T (p.His4218Leu)
c.3665A>T
n.2103A>T
c.5769A>T
c.2939A>T (p.His980Leu)
n.10970A>T
c.*10608A>T (n.*10608A>T)
c.13304A>T (p.His4435Leu)
c.13301A>T (p.His4434Leu)
c.13139A>T (p.His4380Leu)
c.13232A>T (p.His4411Leu)
c.13136A>T (p.His4379Leu)
c.13256A>T (p.His4419Leu)
c.13184A>T (p.His4395Leu)
c.13151A>T (p.His4384Leu)
c.13067A>T (p.His4356Leu)
c.12389A>T (p.His4130Leu)
c.10850A>T (p.His3617Leu)
c.13271A>T (p.His4424Leu)
c.13253A>T (p.His4418Leu)
c.13229A>T (p.His4410Leu)
c.13157A>T (p.His4386Leu)
c.13121A>T (p.His4374Leu)
c.9974A>T (p.His3325Leu)
c.9578A>T (p.His3193Leu)
7g.152148839T>CCA370093222KMT2Cc.1276A>G
n.2220A>G
c.13259A>G (p.His4420Arg)
n.2388A>G
n.8280A>G
c.3661A>G
c.10598A>G (p.His3533Arg)
n.4718A>G
c.3733A>G
n.1854A>G
n.1804A>G
c.1505A>G (p.His502Arg)
c.7985A>G (p.His2662Arg)
c.13088A>G (p.His4363Arg)
c.8875A>G
c.3730A>G
c.3664A>G
n.7799A>G
c.7988A>G (p.His2663Arg)
c.12653A>G (p.His4218Arg)
c.3665A>G
n.2103A>G
c.5769A>G
c.2939A>G (p.His980Arg)
n.10970A>G
c.*10608A>G (n.*10608A>G)
c.13304A>G (p.His4435Arg)
c.13301A>G (p.His4434Arg)
c.13139A>G (p.His4380Arg)
c.13232A>G (p.His4411Arg)
c.13136A>G (p.His4379Arg)
c.13256A>G (p.His4419Arg)
c.13184A>G (p.His4395Arg)
c.13151A>G (p.His4384Arg)
c.13067A>G (p.His4356Arg)
c.12389A>G (p.His4130Arg)
c.10850A>G (p.His3617Arg)
c.13271A>G (p.His4424Arg)
c.13253A>G (p.His4418Arg)
c.13229A>G (p.His4410Arg)
c.13157A>G (p.His4386Arg)
c.13121A>G (p.His4374Arg)
c.9974A>G (p.His3325Arg)
c.9578A>G (p.His3193Arg)
gnomAD v4
7g.152148839T>GCA370093224KMT2Cc.1276A>C
n.2220A>C
c.13259A>C (p.His4420Pro)
n.2388A>C
n.8280A>C
c.3661A>C
c.10598A>C (p.His3533Pro)
n.4718A>C
c.3733A>C
n.1854A>C
n.1804A>C
c.1505A>C (p.His502Pro)
c.7985A>C (p.His2662Pro)
c.13088A>C (p.His4363Pro)
c.8875A>C
c.3730A>C
c.3664A>C
n.7799A>C
c.7988A>C (p.His2663Pro)
c.12653A>C (p.His4218Pro)
c.3665A>C
n.2103A>C
c.5769A>C
c.2939A>C (p.His980Pro)
n.10970A>C
c.*10608A>C (n.*10608A>C)
c.13304A>C (p.His4435Pro)
c.13301A>C (p.His4434Pro)
c.13139A>C (p.His4380Pro)
c.13232A>C (p.His4411Pro)
c.13136A>C (p.His4379Pro)
c.13256A>C (p.His4419Pro)
c.13184A>C (p.His4395Pro)
c.13151A>C (p.His4384Pro)
c.13067A>C (p.His4356Pro)
c.12389A>C (p.His4130Pro)
c.10850A>C (p.His3617Pro)
c.13271A>C (p.His4424Pro)
c.13253A>C (p.His4418Pro)
c.13229A>C (p.His4410Pro)
c.13157A>C (p.His4386Pro)
c.13121A>C (p.His4374Pro)
c.9974A>C (p.His3325Pro)
c.9578A>C (p.His3193Pro)
7g.152148840G>ACA370093225KMT2Cc.1275C>T
n.2219C>T
c.13258C>T (p.His4420Tyr)
n.2387C>T
n.8279C>T
c.3660C>T
c.10597C>T (p.His3533Tyr)
n.4717C>T
c.3732C>T
n.1853C>T
n.1803C>T
c.1504C>T (p.His502Tyr)
c.7984C>T (p.His2662Tyr)
c.13087C>T (p.His4363Tyr)
c.8874C>T
c.3729C>T
c.3663C>T
n.7798C>T
c.7987C>T (p.His2663Tyr)
c.12652C>T (p.His4218Tyr)
c.3664C>T
n.2102C>T
c.5768C>T
c.2938C>T (p.His980Tyr)
n.10969C>T
c.*10607C>T (n.*10607C>T)
c.13303C>T (p.His4435Tyr)
c.13300C>T (p.His4434Tyr)
c.13138C>T (p.His4380Tyr)
c.13231C>T (p.His4411Tyr)
c.13135C>T (p.His4379Tyr)
c.13255C>T (p.His4419Tyr)
c.13183C>T (p.His4395Tyr)
c.13150C>T (p.His4384Tyr)
c.13066C>T (p.His4356Tyr)
c.12388C>T (p.His4130Tyr)
c.10849C>T (p.His3617Tyr)
c.13270C>T (p.His4424Tyr)
c.13252C>T (p.His4418Tyr)
c.13228C>T (p.His4410Tyr)
c.13156C>T (p.His4386Tyr)
c.13120C>T (p.His4374Tyr)
c.9973C>T (p.His3325Tyr)
c.9577C>T (p.His3193Tyr)
7g.152148840G>CCA370093226KMT2Cc.1275C>G
n.2219C>G
c.13258C>G (p.His4420Asp)
n.2387C>G
n.8279C>G
c.3660C>G
c.10597C>G (p.His3533Asp)
n.4717C>G
c.3732C>G
n.1853C>G
n.1803C>G
c.1504C>G (p.His502Asp)
c.7984C>G (p.His2662Asp)
c.13087C>G (p.His4363Asp)
c.8874C>G
c.3729C>G
c.3663C>G
n.7798C>G
c.7987C>G (p.His2663Asp)
c.12652C>G (p.His4218Asp)
c.3664C>G
n.2102C>G
c.5768C>G
c.2938C>G (p.His980Asp)
n.10969C>G
c.*10607C>G (n.*10607C>G)
c.13303C>G (p.His4435Asp)
c.13300C>G (p.His4434Asp)
c.13138C>G (p.His4380Asp)
c.13231C>G (p.His4411Asp)
c.13135C>G (p.His4379Asp)
c.13255C>G (p.His4419Asp)
c.13183C>G (p.His4395Asp)
c.13150C>G (p.His4384Asp)
c.13066C>G (p.His4356Asp)
c.12388C>G (p.His4130Asp)
c.10849C>G (p.His3617Asp)
c.13270C>G (p.His4424Asp)
c.13252C>G (p.His4418Asp)
c.13228C>G (p.His4410Asp)
c.13156C>G (p.His4386Asp)
c.13120C>G (p.His4374Asp)
c.9973C>G (p.His3325Asp)
c.9577C>G (p.His3193Asp)
7g.152148840G>TCA370093227KMT2Cc.1275C>A
n.2219C>A
c.13258C>A (p.His4420Asn)
n.2387C>A
n.8279C>A
c.3660C>A
c.10597C>A (p.His3533Asn)
n.4717C>A
c.3732C>A
n.1853C>A
n.1803C>A
c.1504C>A (p.His502Asn)
c.7984C>A (p.His2662Asn)
c.13087C>A (p.His4363Asn)
c.8874C>A
c.3729C>A
c.3663C>A
n.7798C>A
c.7987C>A (p.His2663Asn)
c.12652C>A (p.His4218Asn)
c.3664C>A
n.2102C>A
c.5768C>A
c.2938C>A (p.His980Asn)
n.10969C>A
c.*10607C>A (n.*10607C>A)
c.13303C>A (p.His4435Asn)
c.13300C>A (p.His4434Asn)
c.13138C>A (p.His4380Asn)
c.13231C>A (p.His4411Asn)
c.13135C>A (p.His4379Asn)
c.13255C>A (p.His4419Asn)
c.13183C>A (p.His4395Asn)
c.13150C>A (p.His4384Asn)
c.13066C>A (p.His4356Asn)
c.12388C>A (p.His4130Asn)
c.10849C>A (p.His3617Asn)
c.13270C>A (p.His4424Asn)
c.13252C>A (p.His4418Asn)
c.13228C>A (p.His4410Asn)
c.13156C>A (p.His4386Asn)
c.13120C>A (p.His4374Asn)
c.9973C>A (p.His3325Asn)
c.9577C>A (p.His3193Asn)
7g.152148841A>CCA370093229KMT2Cc.1274T>G
n.2218T>G
c.13257T>G (p.Ile4419Met)
n.2386T>G
n.8278T>G
c.3659T>G
c.10596T>G (p.Ile3532Met)
n.4716T>G
c.3731T>G
n.1852T>G
n.1802T>G
c.1503T>G (p.Ile501Met)
c.7983T>G (p.Ile2661Met)
c.13086T>G (p.Ile4362Met)
c.8873T>G
c.3728T>G
c.3662T>G
n.7797T>G
c.7986T>G (p.Ile2662Met)
c.12651T>G (p.Ile4217Met)
c.3663T>G
n.2101T>G
c.5767T>G
c.2937T>G (p.Ile979Met)
n.10968T>G
c.*10606T>G (n.*10606T>G)
c.13302T>G (p.Ile4434Met)
c.13299T>G (p.Ile4433Met)
c.13137T>G (p.Ile4379Met)
c.13230T>G (p.Ile4410Met)
c.13134T>G (p.Ile4378Met)
c.13254T>G (p.Ile4418Met)
c.13182T>G (p.Ile4394Met)
c.13149T>G (p.Ile4383Met)
c.13065T>G (p.Ile4355Met)
c.12387T>G (p.Ile4129Met)
c.10848T>G (p.Ile3616Met)
c.13269T>G (p.Ile4423Met)
c.13251T>G (p.Ile4417Met)
c.13227T>G (p.Ile4409Met)
c.13155T>G (p.Ile4385Met)
c.13119T>G (p.Ile4373Met)
c.9972T>G (p.Ile3324Met)
c.9576T>G (p.Ile3192Met)
7g.152148841A>GCA458884847KMT2Cc.1274T>C
n.2218T>C
c.13257T>C (p.Ile4419=)
n.2386T>C
n.8278T>C
c.3659T>C
c.10596T>C (p.Ile3532=)
n.4716T>C
c.3731T>C
n.1852T>C
n.1802T>C
c.1503T>C (p.Ile501=)
c.7983T>C (p.Ile2661=)
c.13086T>C (p.Ile4362=)
c.8873T>C
c.3728T>C
c.3662T>C
n.7797T>C
c.7986T>C (p.Ile2662=)
c.12651T>C (p.Ile4217=)
c.3663T>C
n.2101T>C
c.5767T>C
c.2937T>C (p.Ile979=)
n.10968T>C
c.*10606T>C (n.*10606T>C)
c.13302T>C (p.Ile4434=)
c.13299T>C (p.Ile4433=)
c.13137T>C (p.Ile4379=)
c.13230T>C (p.Ile4410=)
c.13134T>C (p.Ile4378=)
c.13254T>C (p.Ile4418=)
c.13182T>C (p.Ile4394=)
c.13149T>C (p.Ile4383=)
c.13065T>C (p.Ile4355=)
c.12387T>C (p.Ile4129=)
c.10848T>C (p.Ile3616=)
c.13269T>C (p.Ile4423=)
c.13251T>C (p.Ile4417=)
c.13227T>C (p.Ile4409=)
c.13155T>C (p.Ile4385=)
c.13119T>C (p.Ile4373=)
c.9972T>C (p.Ile3324=)
c.9576T>C (p.Ile3192=)
7g.152148841A>TCA458884848KMT2Cc.1274T>A
n.2218T>A
c.13257T>A (p.Ile4419=)
n.2386T>A
n.8278T>A
c.3659T>A
c.10596T>A (p.Ile3532=)
n.4716T>A
c.3731T>A
n.1852T>A
n.1802T>A
c.1503T>A (p.Ile501=)
c.7983T>A (p.Ile2661=)
c.13086T>A (p.Ile4362=)
c.8873T>A
c.3728T>A
c.3662T>A
n.7797T>A
c.7986T>A (p.Ile2662=)
c.12651T>A (p.Ile4217=)
c.3663T>A
n.2101T>A
c.5767T>A
c.2937T>A (p.Ile979=)
n.10968T>A
c.*10606T>A (n.*10606T>A)
c.13302T>A (p.Ile4434=)
c.13299T>A (p.Ile4433=)
c.13137T>A (p.Ile4379=)
c.13230T>A (p.Ile4410=)
c.13134T>A (p.Ile4378=)
c.13254T>A (p.Ile4418=)
c.13182T>A (p.Ile4394=)
c.13149T>A (p.Ile4383=)
c.13065T>A (p.Ile4355=)
c.12387T>A (p.Ile4129=)
c.10848T>A (p.Ile3616=)
c.13269T>A (p.Ile4423=)
c.13251T>A (p.Ile4417=)
c.13227T>A (p.Ile4409=)
c.13155T>A (p.Ile4385=)
c.13119T>A (p.Ile4373=)
c.9972T>A (p.Ile3324=)
c.9576T>A (p.Ile3192=)
7g.152148842A>CCA370093233KMT2Cc.1273T>G
n.2217T>G
c.13256T>G (p.Ile4419Ser)
n.2385T>G
n.8277T>G
c.3658T>G
c.10595T>G (p.Ile3532Ser)
n.4715T>G
c.3730T>G
n.1851T>G
n.1801T>G
c.1502T>G (p.Ile501Ser)
c.7982T>G (p.Ile2661Ser)
c.13085T>G (p.Ile4362Ser)
c.8872T>G
c.3727T>G
c.3661T>G
n.7796T>G
c.7985T>G (p.Ile2662Ser)
c.12650T>G (p.Ile4217Ser)
c.3662T>G
n.2100T>G
c.5766T>G
c.2936T>G (p.Ile979Ser)
n.10967T>G
c.*10605T>G (n.*10605T>G)
c.13301T>G (p.Ile4434Ser)
c.13298T>G (p.Ile4433Ser)
c.13136T>G (p.Ile4379Ser)
c.13229T>G (p.Ile4410Ser)
c.13133T>G (p.Ile4378Ser)
c.13253T>G (p.Ile4418Ser)
c.13181T>G (p.Ile4394Ser)
c.13148T>G (p.Ile4383Ser)
c.13064T>G (p.Ile4355Ser)
c.12386T>G (p.Ile4129Ser)
c.10847T>G (p.Ile3616Ser)
c.13268T>G (p.Ile4423Ser)
c.13250T>G (p.Ile4417Ser)
c.13226T>G (p.Ile4409Ser)
c.13154T>G (p.Ile4385Ser)
c.13118T>G (p.Ile4373Ser)
c.9971T>G (p.Ile3324Ser)
c.9575T>G (p.Ile3192Ser)
7g.152148842A>GCA370093230KMT2Cc.1273T>C
n.2217T>C
c.13256T>C (p.Ile4419Thr)
n.2385T>C
n.8277T>C
c.3658T>C
c.10595T>C (p.Ile3532Thr)
n.4715T>C
c.3730T>C
n.1851T>C
n.1801T>C
c.1502T>C (p.Ile501Thr)
c.7982T>C (p.Ile2661Thr)
c.13085T>C (p.Ile4362Thr)
c.8872T>C
c.3727T>C
c.3661T>C
n.7796T>C
c.7985T>C (p.Ile2662Thr)
c.12650T>C (p.Ile4217Thr)
c.3662T>C
n.2100T>C
c.5766T>C
c.2936T>C (p.Ile979Thr)
n.10967T>C
c.*10605T>C (n.*10605T>C)
c.13301T>C (p.Ile4434Thr)
c.13298T>C (p.Ile4433Thr)
c.13136T>C (p.Ile4379Thr)
c.13229T>C (p.Ile4410Thr)
c.13133T>C (p.Ile4378Thr)
c.13253T>C (p.Ile4418Thr)
c.13181T>C (p.Ile4394Thr)
c.13148T>C (p.Ile4383Thr)
c.13064T>C (p.Ile4355Thr)
c.12386T>C (p.Ile4129Thr)
c.10847T>C (p.Ile3616Thr)
c.13268T>C (p.Ile4423Thr)
c.13250T>C (p.Ile4417Thr)
c.13226T>C (p.Ile4409Thr)
c.13154T>C (p.Ile4385Thr)
c.13118T>C (p.Ile4373Thr)
c.9971T>C (p.Ile3324Thr)
c.9575T>C (p.Ile3192Thr)
7g.152148842A>TCA370093232KMT2Cc.1273T>A
n.2217T>A
c.13256T>A (p.Ile4419Asn)
n.2385T>A
n.8277T>A
c.3658T>A
c.10595T>A (p.Ile3532Asn)
n.4715T>A
c.3730T>A
n.1851T>A
n.1801T>A
c.1502T>A (p.Ile501Asn)
c.7982T>A (p.Ile2661Asn)
c.13085T>A (p.Ile4362Asn)
c.8872T>A
c.3727T>A
c.3661T>A
n.7796T>A
c.7985T>A (p.Ile2662Asn)
c.12650T>A (p.Ile4217Asn)
c.3662T>A
n.2100T>A
c.5766T>A
c.2936T>A (p.Ile979Asn)
n.10967T>A
c.*10605T>A (n.*10605T>A)
c.13301T>A (p.Ile4434Asn)
c.13298T>A (p.Ile4433Asn)
c.13136T>A (p.Ile4379Asn)
c.13229T>A (p.Ile4410Asn)
c.13133T>A (p.Ile4378Asn)
c.13253T>A (p.Ile4418Asn)
c.13181T>A (p.Ile4394Asn)
c.13148T>A (p.Ile4383Asn)
c.13064T>A (p.Ile4355Asn)
c.12386T>A (p.Ile4129Asn)
c.10847T>A (p.Ile3616Asn)
c.13268T>A (p.Ile4423Asn)
c.13250T>A (p.Ile4417Asn)
c.13226T>A (p.Ile4409Asn)
c.13154T>A (p.Ile4385Asn)
c.13118T>A (p.Ile4373Asn)
c.9971T>A (p.Ile3324Asn)
c.9575T>A (p.Ile3192Asn)
7g.152148843T>ACA370093234KMT2Cc.1272A>T
n.2216A>T
c.13255A>T (p.Ile4419Phe)
n.2384A>T
n.8276A>T
c.3657A>T
c.10594A>T (p.Ile3532Phe)
n.4714A>T
c.3729A>T
n.1850A>T
n.1800A>T
c.1501A>T (p.Ile501Phe)
c.7981A>T (p.Ile2661Phe)
c.13084A>T (p.Ile4362Phe)
c.8871A>T
c.3726A>T
c.3660A>T
n.7795A>T
c.7984A>T (p.Ile2662Phe)
c.12649A>T (p.Ile4217Phe)
c.3661A>T
n.2099A>T
c.5765A>T
c.2935A>T (p.Ile979Phe)
n.10966A>T
c.*10604A>T (n.*10604A>T)
c.13300A>T (p.Ile4434Phe)
c.13297A>T (p.Ile4433Phe)
c.13135A>T (p.Ile4379Phe)
c.13228A>T (p.Ile4410Phe)
c.13132A>T (p.Ile4378Phe)
c.13252A>T (p.Ile4418Phe)
c.13180A>T (p.Ile4394Phe)
c.13147A>T (p.Ile4383Phe)
c.13063A>T (p.Ile4355Phe)
c.12385A>T (p.Ile4129Phe)
c.10846A>T (p.Ile3616Phe)
c.13267A>T (p.Ile4423Phe)
c.13249A>T (p.Ile4417Phe)
c.13225A>T (p.Ile4409Phe)
c.13153A>T (p.Ile4385Phe)
c.13117A>T (p.Ile4373Phe)
c.9970A>T (p.Ile3324Phe)
c.9574A>T (p.Ile3192Phe)
7g.152148843T>CCA370093235KMT2Cc.1272A>G
n.2216A>G
c.13255A>G (p.Ile4419Val)
n.2384A>G
n.8276A>G
c.3657A>G
c.10594A>G (p.Ile3532Val)
n.4714A>G
c.3729A>G
n.1850A>G
n.1800A>G
c.1501A>G (p.Ile501Val)
c.7981A>G (p.Ile2661Val)
c.13084A>G (p.Ile4362Val)
c.8871A>G
c.3726A>G
c.3660A>G
n.7795A>G
c.7984A>G (p.Ile2662Val)
c.12649A>G (p.Ile4217Val)
c.3661A>G
n.2099A>G
c.5765A>G
c.2935A>G (p.Ile979Val)
n.10966A>G
c.*10604A>G (n.*10604A>G)
c.13300A>G (p.Ile4434Val)
c.13297A>G (p.Ile4433Val)
c.13135A>G (p.Ile4379Val)
c.13228A>G (p.Ile4410Val)
c.13132A>G (p.Ile4378Val)
c.13252A>G (p.Ile4418Val)
c.13180A>G (p.Ile4394Val)
c.13147A>G (p.Ile4383Val)
c.13063A>G (p.Ile4355Val)
c.12385A>G (p.Ile4129Val)
c.10846A>G (p.Ile3616Val)
c.13267A>G (p.Ile4423Val)
c.13249A>G (p.Ile4417Val)
c.13225A>G (p.Ile4409Val)
c.13153A>G (p.Ile4385Val)
c.13117A>G (p.Ile4373Val)
c.9970A>G (p.Ile3324Val)
c.9574A>G (p.Ile3192Val)
gnomAD v4
7g.152148843T>GCA370093237KMT2Cc.1272A>C
n.2216A>C
c.13255A>C (p.Ile4419Leu)
n.2384A>C
n.8276A>C
c.3657A>C
c.10594A>C (p.Ile3532Leu)
n.4714A>C
c.3729A>C
n.1850A>C
n.1800A>C
c.1501A>C (p.Ile501Leu)
c.7981A>C (p.Ile2661Leu)
c.13084A>C (p.Ile4362Leu)
c.8871A>C
c.3726A>C
c.3660A>C
n.7795A>C
c.7984A>C (p.Ile2662Leu)
c.12649A>C (p.Ile4217Leu)
c.3661A>C
n.2099A>C
c.5765A>C
c.2935A>C (p.Ile979Leu)
n.10966A>C
c.*10604A>C (n.*10604A>C)
c.13300A>C (p.Ile4434Leu)
c.13297A>C (p.Ile4433Leu)
c.13135A>C (p.Ile4379Leu)
c.13228A>C (p.Ile4410Leu)
c.13132A>C (p.Ile4378Leu)
c.13252A>C (p.Ile4418Leu)
c.13180A>C (p.Ile4394Leu)
c.13147A>C (p.Ile4383Leu)
c.13063A>C (p.Ile4355Leu)
c.12385A>C (p.Ile4129Leu)
c.10846A>C (p.Ile3616Leu)
c.13267A>C (p.Ile4423Leu)
c.13249A>C (p.Ile4417Leu)
c.13225A>C (p.Ile4409Leu)
c.13153A>C (p.Ile4385Leu)
c.13117A>C (p.Ile4373Leu)
c.9970A>C (p.Ile3324Leu)
c.9574A>C (p.Ile3192Leu)
7g.152148844G>ACA458884853KMT2Cc.1271C>T
n.2215C>T
c.13254C>T (p.Ser4418=)
n.2383C>T
n.8275C>T
c.3656C>T
c.10593C>T (p.Ser3531=)
n.4713C>T
c.3728C>T
n.1849C>T
n.1799C>T
c.1500C>T (p.Ser500=)
c.7980C>T (p.Ser2660=)
c.13083C>T (p.Ser4361=)
c.8870C>T
c.3725C>T
c.3659C>T
n.7794C>T
c.7983C>T (p.Ser2661=)
c.12648C>T (p.Ser4216=)
c.3660C>T
n.2098C>T
c.5764C>T
c.2934C>T (p.Ser978=)
n.10965C>T
c.*10603C>T (n.*10603C>T)
c.13299C>T (p.Ser4433=)
c.13296C>T (p.Ser4432=)
c.13134C>T (p.Ser4378=)
c.13227C>T (p.Ser4409=)
c.13131C>T (p.Ser4377=)
c.13251C>T (p.Ser4417=)
c.13179C>T (p.Ser4393=)
c.13146C>T (p.Ser4382=)
c.13062C>T (p.Ser4354=)
c.12384C>T (p.Ser4128=)
c.10845C>T (p.Ser3615=)
c.13266C>T (p.Ser4422=)
c.13248C>T (p.Ser4416=)
c.13224C>T (p.Ser4408=)
c.13152C>T (p.Ser4384=)
c.13116C>T (p.Ser4372=)
c.9969C>T (p.Ser3323=)
c.9573C>T (p.Ser3191=)
7g.152148844G>CCA370093239KMT2Cc.1271C>G
n.2215C>G
c.13254C>G (p.Ser4418Arg)
n.2383C>G
n.8275C>G
c.3656C>G
c.10593C>G (p.Ser3531Arg)
n.4713C>G
c.3728C>G
n.1849C>G
n.1799C>G
c.1500C>G (p.Ser500Arg)
c.7980C>G (p.Ser2660Arg)
c.13083C>G (p.Ser4361Arg)
c.8870C>G
c.3725C>G
c.3659C>G
n.7794C>G
c.7983C>G (p.Ser2661Arg)
c.12648C>G (p.Ser4216Arg)
c.3660C>G
n.2098C>G
c.5764C>G
c.2934C>G (p.Ser978Arg)
n.10965C>G
c.*10603C>G (n.*10603C>G)
c.13299C>G (p.Ser4433Arg)
c.13296C>G (p.Ser4432Arg)
c.13134C>G (p.Ser4378Arg)
c.13227C>G (p.Ser4409Arg)
c.13131C>G (p.Ser4377Arg)
c.13251C>G (p.Ser4417Arg)
c.13179C>G (p.Ser4393Arg)
c.13146C>G (p.Ser4382Arg)
c.13062C>G (p.Ser4354Arg)
c.12384C>G (p.Ser4128Arg)
c.10845C>G (p.Ser3615Arg)
c.13266C>G (p.Ser4422Arg)
c.13248C>G (p.Ser4416Arg)
c.13224C>G (p.Ser4408Arg)
c.13152C>G (p.Ser4384Arg)
c.13116C>G (p.Ser4372Arg)
c.9969C>G (p.Ser3323Arg)
c.9573C>G (p.Ser3191Arg)
dbSNP
7g.152148844G>TCA370093241KMT2Cc.1271C>A
n.2215C>A
c.13254C>A (p.Ser4418Arg)
n.2383C>A
n.8275C>A
c.3656C>A
c.10593C>A (p.Ser3531Arg)
n.4713C>A
c.3728C>A
n.1849C>A
n.1799C>A
c.1500C>A (p.Ser500Arg)
c.7980C>A (p.Ser2660Arg)
c.13083C>A (p.Ser4361Arg)
c.8870C>A
c.3725C>A
c.3659C>A
n.7794C>A
c.7983C>A (p.Ser2661Arg)
c.12648C>A (p.Ser4216Arg)
c.3660C>A
n.2098C>A
c.5764C>A
c.2934C>A (p.Ser978Arg)
n.10965C>A
c.*10603C>A (n.*10603C>A)
c.13299C>A (p.Ser4433Arg)
c.13296C>A (p.Ser4432Arg)
c.13134C>A (p.Ser4378Arg)
c.13227C>A (p.Ser4409Arg)
c.13131C>A (p.Ser4377Arg)
c.13251C>A (p.Ser4417Arg)
c.13179C>A (p.Ser4393Arg)
c.13146C>A (p.Ser4382Arg)
c.13062C>A (p.Ser4354Arg)
c.12384C>A (p.Ser4128Arg)
c.10845C>A (p.Ser3615Arg)
c.13266C>A (p.Ser4422Arg)
c.13248C>A (p.Ser4416Arg)
c.13224C>A (p.Ser4408Arg)
c.13152C>A (p.Ser4384Arg)
c.13116C>A (p.Ser4372Arg)
c.9969C>A (p.Ser3323Arg)
c.9573C>A (p.Ser3191Arg)
7g.152148845C>ACA370093242KMT2Cc.1270G>T
n.2214G>T
c.13253G>T (p.Ser4418Ile)
n.2382G>T
n.8274G>T
c.3655G>T
c.10592G>T (p.Ser3531Ile)
n.4712G>T
c.3727G>T
n.1848G>T
n.1798G>T
c.1499G>T (p.Ser500Ile)
c.7979G>T (p.Ser2660Ile)
c.13082G>T (p.Ser4361Ile)
c.8869G>T
c.3724G>T
c.3658G>T
n.7793G>T
c.7982G>T (p.Ser2661Ile)
c.12647G>T (p.Ser4216Ile)
c.3659G>T
n.2097G>T
c.5763G>T
c.2933G>T (p.Ser978Ile)
n.10964G>T
c.*10602G>T (n.*10602G>T)
c.13298G>T (p.Ser4433Ile)
c.13295G>T (p.Ser4432Ile)
c.13133G>T (p.Ser4378Ile)
c.13226G>T (p.Ser4409Ile)
c.13130G>T (p.Ser4377Ile)
c.13250G>T (p.Ser4417Ile)
c.13178G>T (p.Ser4393Ile)
c.13145G>T (p.Ser4382Ile)
c.13061G>T (p.Ser4354Ile)
c.12383G>T (p.Ser4128Ile)
c.10844G>T (p.Ser3615Ile)
c.13265G>T (p.Ser4422Ile)
c.13247G>T (p.Ser4416Ile)
c.13223G>T (p.Ser4408Ile)
c.13151G>T (p.Ser4384Ile)
c.13115G>T (p.Ser4372Ile)
c.9968G>T (p.Ser3323Ile)
c.9572G>T (p.Ser3191Ile)
7g.152148845C=CA1752986444KMT2Cc.1270G=
n.2214G=
c.13253G= (p.Ser4418=)
n.2382G=
n.8274G=
c.3655G=
c.10592G= (p.Ser3531=)
n.4712G=
c.3727G=
n.1848G=
n.1798G=
c.1499G= (p.Ser500=)
c.7979G= (p.Ser2660=)
c.13082G= (p.Ser4361=)
c.8869G=
c.3724G=
c.3658G=
n.7793G=
c.7982G= (p.Ser2661=)
c.12647G= (p.Ser4216=)
c.3659G=
n.2097G=
c.5763G=
c.2933G= (p.Ser978=)
n.10964G=
c.*10602G= (n.*10602G=)
c.13298G= (p.Ser4433=)
c.13295G= (p.Ser4432=)
c.13133G= (p.Ser4378=)
c.13226G= (p.Ser4409=)
c.13130G= (p.Ser4377=)
c.13250G= (p.Ser4417=)
c.13178G= (p.Ser4393=)
c.13145G= (p.Ser4382=)
c.13061G= (p.Ser4354=)
c.12383G= (p.Ser4128=)
c.10844G= (p.Ser3615=)
c.13265G= (p.Ser4422=)
c.13247G= (p.Ser4416=)
c.13223G= (p.Ser4408=)
c.13151G= (p.Ser4384=)
c.13115G= (p.Ser4372=)
c.9968G= (p.Ser3323=)
c.9572G= (p.Ser3191=)
7g.152148845C>GCA370093243KMT2Cc.1270G>C
n.2214G>C
c.13253G>C (p.Ser4418Thr)
n.2382G>C
n.8274G>C
c.3655G>C
c.10592G>C (p.Ser3531Thr)
n.4712G>C
c.3727G>C
n.1848G>C
n.1798G>C
c.1499G>C (p.Ser500Thr)
c.7979G>C (p.Ser2660Thr)
c.13082G>C (p.Ser4361Thr)
c.8869G>C
c.3724G>C
c.3658G>C
n.7793G>C
c.7982G>C (p.Ser2661Thr)
c.12647G>C (p.Ser4216Thr)
c.3659G>C
n.2097G>C
c.5763G>C
c.2933G>C (p.Ser978Thr)
n.10964G>C
c.*10602G>C (n.*10602G>C)
c.13298G>C (p.Ser4433Thr)
c.13295G>C (p.Ser4432Thr)
c.13133G>C (p.Ser4378Thr)
c.13226G>C (p.Ser4409Thr)
c.13130G>C (p.Ser4377Thr)
c.13250G>C (p.Ser4417Thr)
c.13178G>C (p.Ser4393Thr)
c.13145G>C (p.Ser4382Thr)
c.13061G>C (p.Ser4354Thr)
c.12383G>C (p.Ser4128Thr)
c.10844G>C (p.Ser3615Thr)
c.13265G>C (p.Ser4422Thr)
c.13247G>C (p.Ser4416Thr)
c.13223G>C (p.Ser4408Thr)
c.13151G>C (p.Ser4384Thr)
c.13115G>C (p.Ser4372Thr)
c.9968G>C (p.Ser3323Thr)
c.9572G>C (p.Ser3191Thr)
dbSNP
7g.152148845C>TCA370093245KMT2Cc.1270G>A
n.2214G>A
c.13253G>A (p.Ser4418Asn)
n.2382G>A
n.8274G>A
c.3655G>A
c.10592G>A (p.Ser3531Asn)
n.4712G>A
c.3727G>A
n.1848G>A
n.1798G>A
c.1499G>A (p.Ser500Asn)
c.7979G>A (p.Ser2660Asn)
c.13082G>A (p.Ser4361Asn)
c.8869G>A
c.3724G>A
c.3658G>A
n.7793G>A
c.7982G>A (p.Ser2661Asn)
c.12647G>A (p.Ser4216Asn)
c.3659G>A
n.2097G>A
c.5763G>A
c.2933G>A (p.Ser978Asn)
n.10964G>A
c.*10602G>A (n.*10602G>A)
c.13298G>A (p.Ser4433Asn)
c.13295G>A (p.Ser4432Asn)
c.13133G>A (p.Ser4378Asn)
c.13226G>A (p.Ser4409Asn)
c.13130G>A (p.Ser4377Asn)
c.13250G>A (p.Ser4417Asn)
c.13178G>A (p.Ser4393Asn)
c.13145G>A (p.Ser4382Asn)
c.13061G>A (p.Ser4354Asn)
c.12383G>A (p.Ser4128Asn)
c.10844G>A (p.Ser3615Asn)
c.13265G>A (p.Ser4422Asn)
c.13247G>A (p.Ser4416Asn)
c.13223G>A (p.Ser4408Asn)
c.13151G>A (p.Ser4384Asn)
c.13115G>A (p.Ser4372Asn)
c.9968G>A (p.Ser3323Asn)
c.9572G>A (p.Ser3191Asn)
dbSNP gnomAD v2 gnomAD v4
7g.152148846T>ACA370093247KMT2Cc.1269A>T
n.2213A>T
c.13252A>T (p.Ser4418Cys)
n.2381A>T
n.8273A>T
c.3654A>T
c.10591A>T (p.Ser3531Cys)
n.4711A>T
c.3726A>T
n.1847A>T
n.1797A>T
c.1498A>T (p.Ser500Cys)
c.7978A>T (p.Ser2660Cys)
c.13081A>T (p.Ser4361Cys)
c.8868A>T
c.3723A>T
c.3657A>T
n.7792A>T
c.7981A>T (p.Ser2661Cys)
c.12646A>T (p.Ser4216Cys)
c.3658A>T
n.2096A>T
c.5762A>T
c.2932A>T (p.Ser978Cys)
n.10963A>T
c.*10601A>T (n.*10601A>T)
c.13297A>T (p.Ser4433Cys)
c.13294A>T (p.Ser4432Cys)
c.13132A>T (p.Ser4378Cys)
c.13225A>T (p.Ser4409Cys)
c.13129A>T (p.Ser4377Cys)
c.13249A>T (p.Ser4417Cys)
c.13177A>T (p.Ser4393Cys)
c.13144A>T (p.Ser4382Cys)
c.13060A>T (p.Ser4354Cys)
c.12382A>T (p.Ser4128Cys)
c.10843A>T (p.Ser3615Cys)
c.13264A>T (p.Ser4422Cys)
c.13246A>T (p.Ser4416Cys)
c.13222A>T (p.Ser4408Cys)
c.13150A>T (p.Ser4384Cys)
c.13114A>T (p.Ser4372Cys)
c.9967A>T (p.Ser3323Cys)
c.9571A>T (p.Ser3191Cys)
COSMIC COSMIC
7g.152148846T>CCA370093248KMT2Cc.1269A>G
n.2213A>G
c.13252A>G (p.Ser4418Gly)
n.2381A>G
n.8273A>G
c.3654A>G
c.10591A>G (p.Ser3531Gly)
n.4711A>G
c.3726A>G
n.1847A>G
n.1797A>G
c.1498A>G (p.Ser500Gly)
c.7978A>G (p.Ser2660Gly)
c.13081A>G (p.Ser4361Gly)
c.8868A>G
c.3723A>G
c.3657A>G
n.7792A>G
c.7981A>G (p.Ser2661Gly)
c.12646A>G (p.Ser4216Gly)
c.3658A>G
n.2096A>G
c.5762A>G
c.2932A>G (p.Ser978Gly)
n.10963A>G
c.*10601A>G (n.*10601A>G)
c.13297A>G (p.Ser4433Gly)
c.13294A>G (p.Ser4432Gly)
c.13132A>G (p.Ser4378Gly)
c.13225A>G (p.Ser4409Gly)
c.13129A>G (p.Ser4377Gly)
c.13249A>G (p.Ser4417Gly)
c.13177A>G (p.Ser4393Gly)
c.13144A>G (p.Ser4382Gly)
c.13060A>G (p.Ser4354Gly)
c.12382A>G (p.Ser4128Gly)
c.10843A>G (p.Ser3615Gly)
c.13264A>G (p.Ser4422Gly)
c.13246A>G (p.Ser4416Gly)
c.13222A>G (p.Ser4408Gly)
c.13150A>G (p.Ser4384Gly)
c.13114A>G (p.Ser4372Gly)
c.9967A>G (p.Ser3323Gly)
c.9571A>G (p.Ser3191Gly)
7g.152148846T>GCA370093249KMT2Cc.1269A>C
n.2213A>C
c.13252A>C (p.Ser4418Arg)
n.2381A>C
n.8273A>C
c.3654A>C
c.10591A>C (p.Ser3531Arg)
n.4711A>C
c.3726A>C
n.1847A>C
n.1797A>C
c.1498A>C (p.Ser500Arg)
c.7978A>C (p.Ser2660Arg)
c.13081A>C (p.Ser4361Arg)
c.8868A>C
c.3723A>C
c.3657A>C
n.7792A>C
c.7981A>C (p.Ser2661Arg)
c.12646A>C (p.Ser4216Arg)
c.3658A>C
n.2096A>C
c.5762A>C
c.2932A>C (p.Ser978Arg)
n.10963A>C
c.*10601A>C (n.*10601A>C)
c.13297A>C (p.Ser4433Arg)
c.13294A>C (p.Ser4432Arg)
c.13132A>C (p.Ser4378Arg)
c.13225A>C (p.Ser4409Arg)
c.13129A>C (p.Ser4377Arg)
c.13249A>C (p.Ser4417Arg)
c.13177A>C (p.Ser4393Arg)
c.13144A>C (p.Ser4382Arg)
c.13060A>C (p.Ser4354Arg)
c.12382A>C (p.Ser4128Arg)
c.10843A>C (p.Ser3615Arg)
c.13264A>C (p.Ser4422Arg)
c.13246A>C (p.Ser4416Arg)
c.13222A>C (p.Ser4408Arg)
c.13150A>C (p.Ser4384Arg)
c.13114A>C (p.Ser4372Arg)
c.9967A>C (p.Ser3323Arg)
c.9571A>C (p.Ser3191Arg)
7g.152148847C>ACA370093254KMT2Cc.1268G>T
n.2212G>T
c.13251G>T (p.Trp4417Cys)
n.2380G>T
n.8272G>T
c.3653G>T
c.10590G>T (p.Trp3530Cys)
n.4710G>T
c.3725G>T
n.1846G>T
n.1796G>T
c.1497G>T (p.Trp499Cys)
c.7977G>T (p.Trp2659Cys)
c.13080G>T (p.Trp4360Cys)
c.8867G>T
c.3722G>T
c.3656G>T
n.7791G>T
c.7980G>T (p.Trp2660Cys)
c.12645G>T (p.Trp4215Cys)
c.3657G>T
n.2095G>T
c.5761G>T
c.2931G>T (p.Trp977Cys)
n.10962G>T
c.*10600G>T (n.*10600G>T)
c.13296G>T (p.Trp4432Cys)
c.13293G>T (p.Trp4431Cys)
c.13131G>T (p.Trp4377Cys)
c.13224G>T (p.Trp4408Cys)
c.13128G>T (p.Trp4376Cys)
c.13248G>T (p.Trp4416Cys)
c.13176G>T (p.Trp4392Cys)
c.13143G>T (p.Trp4381Cys)
c.13059G>T (p.Trp4353Cys)
c.12381G>T (p.Trp4127Cys)
c.10842G>T (p.Trp3614Cys)
c.13263G>T (p.Trp4421Cys)
c.13245G>T (p.Trp4415Cys)
c.13221G>T (p.Trp4407Cys)
c.13149G>T (p.Trp4383Cys)
c.13113G>T (p.Trp4371Cys)
c.9966G>T (p.Trp3322Cys)
c.9570G>T (p.Trp3190Cys)
7g.152148847C>GCA370093252KMT2Cc.1268G>C
n.2212G>C
c.13251G>C (p.Trp4417Cys)
n.2380G>C
n.8272G>C
c.3653G>C
c.10590G>C (p.Trp3530Cys)
n.4710G>C
c.3725G>C
n.1846G>C
n.1796G>C
c.1497G>C (p.Trp499Cys)
c.7977G>C (p.Trp2659Cys)
c.13080G>C (p.Trp4360Cys)
c.8867G>C
c.3722G>C
c.3656G>C
n.7791G>C
c.7980G>C (p.Trp2660Cys)
c.12645G>C (p.Trp4215Cys)
c.3657G>C
n.2095G>C
c.5761G>C
c.2931G>C (p.Trp977Cys)
n.10962G>C
c.*10600G>C (n.*10600G>C)
c.13296G>C (p.Trp4432Cys)
c.13293G>C (p.Trp4431Cys)
c.13131G>C (p.Trp4377Cys)
c.13224G>C (p.Trp4408Cys)
c.13128G>C (p.Trp4376Cys)
c.13248G>C (p.Trp4416Cys)
c.13176G>C (p.Trp4392Cys)
c.13143G>C (p.Trp4381Cys)
c.13059G>C (p.Trp4353Cys)
c.12381G>C (p.Trp4127Cys)
c.10842G>C (p.Trp3614Cys)
c.13263G>C (p.Trp4421Cys)
c.13245G>C (p.Trp4415Cys)
c.13221G>C (p.Trp4407Cys)
c.13149G>C (p.Trp4383Cys)
c.13113G>C (p.Trp4371Cys)
c.9966G>C (p.Trp3322Cys)
c.9570G>C (p.Trp3190Cys)
7g.152148847C>TCA370093250KMT2Cc.1268G>A
n.2212G>A
c.13251G>A (p.Trp4417Ter)
n.2380G>A
n.8272G>A
c.3653G>A
c.10590G>A (p.Trp3530Ter)
n.4710G>A
c.3725G>A
n.1846G>A
n.1796G>A
c.1497G>A (p.Trp499Ter)
c.7977G>A (p.Trp2659Ter)
c.13080G>A (p.Trp4360Ter)
c.8867G>A
c.3722G>A
c.3656G>A
n.7791G>A
c.7980G>A (p.Trp2660Ter)
c.12645G>A (p.Trp4215Ter)
c.3657G>A
n.2095G>A
c.5761G>A
c.2931G>A (p.Trp977Ter)
n.10962G>A
c.*10600G>A (n.*10600G>A)
c.13296G>A (p.Trp4432Ter)
c.13293G>A (p.Trp4431Ter)
c.13131G>A (p.Trp4377Ter)
c.13224G>A (p.Trp4408Ter)
c.13128G>A (p.Trp4376Ter)
c.13248G>A (p.Trp4416Ter)
c.13176G>A (p.Trp4392Ter)
c.13143G>A (p.Trp4381Ter)
c.13059G>A (p.Trp4353Ter)
c.12381G>A (p.Trp4127Ter)
c.10842G>A (p.Trp3614Ter)
c.13263G>A (p.Trp4421Ter)
c.13245G>A (p.Trp4415Ter)
c.13221G>A (p.Trp4407Ter)
c.13149G>A (p.Trp4383Ter)
c.13113G>A (p.Trp4371Ter)
c.9966G>A (p.Trp3322Ter)
c.9570G>A (p.Trp3190Ter)
dbSNP COSMIC COSMIC
7g.152148848C>ACA370093255KMT2Cc.1267G>T
n.2211G>T
c.13250G>T (p.Trp4417Leu)
n.2379G>T
n.8271G>T
c.3652G>T
c.10589G>T (p.Trp3530Leu)
n.4709G>T
c.3724G>T
n.1845G>T
n.1795G>T
c.1496G>T (p.Trp499Leu)
c.7976G>T (p.Trp2659Leu)
c.13079G>T (p.Trp4360Leu)
c.8866G>T
c.3721G>T
c.3655G>T
n.7790G>T
c.7979G>T (p.Trp2660Leu)
c.12644G>T (p.Trp4215Leu)
c.3656G>T
n.2094G>T
c.5760G>T
c.2930G>T (p.Trp977Leu)
n.10961G>T
c.*10599G>T (n.*10599G>T)
c.13295G>T (p.Trp4432Leu)
c.13292G>T (p.Trp4431Leu)
c.13130G>T (p.Trp4377Leu)
c.13223G>T (p.Trp4408Leu)
c.13127G>T (p.Trp4376Leu)
c.13247G>T (p.Trp4416Leu)
c.13175G>T (p.Trp4392Leu)
c.13142G>T (p.Trp4381Leu)
c.13058G>T (p.Trp4353Leu)
c.12380G>T (p.Trp4127Leu)
c.10841G>T (p.Trp3614Leu)
c.13262G>T (p.Trp4421Leu)
c.13244G>T (p.Trp4415Leu)
c.13220G>T (p.Trp4407Leu)
c.13148G>T (p.Trp4383Leu)
c.13112G>T (p.Trp4371Leu)
c.9965G>T (p.Trp3322Leu)
c.9569G>T (p.Trp3190Leu)
7g.152148848C>GCA370093256KMT2Cc.1267G>C
n.2211G>C
c.13250G>C (p.Trp4417Ser)
n.2379G>C
n.8271G>C
c.3652G>C
c.10589G>C (p.Trp3530Ser)
n.4709G>C
c.3724G>C
n.1845G>C
n.1795G>C
c.1496G>C (p.Trp499Ser)
c.7976G>C (p.Trp2659Ser)
c.13079G>C (p.Trp4360Ser)
c.8866G>C
c.3721G>C
c.3655G>C
n.7790G>C
c.7979G>C (p.Trp2660Ser)
c.12644G>C (p.Trp4215Ser)
c.3656G>C
n.2094G>C
c.5760G>C
c.2930G>C (p.Trp977Ser)
n.10961G>C
c.*10599G>C (n.*10599G>C)
c.13295G>C (p.Trp4432Ser)
c.13292G>C (p.Trp4431Ser)
c.13130G>C (p.Trp4377Ser)
c.13223G>C (p.Trp4408Ser)
c.13127G>C (p.Trp4376Ser)
c.13247G>C (p.Trp4416Ser)
c.13175G>C (p.Trp4392Ser)
c.13142G>C (p.Trp4381Ser)
c.13058G>C (p.Trp4353Ser)
c.12380G>C (p.Trp4127Ser)
c.10841G>C (p.Trp3614Ser)
c.13262G>C (p.Trp4421Ser)
c.13244G>C (p.Trp4415Ser)
c.13220G>C (p.Trp4407Ser)
c.13148G>C (p.Trp4383Ser)
c.13112G>C (p.Trp4371Ser)
c.9965G>C (p.Trp3322Ser)
c.9569G>C (p.Trp3190Ser)
7g.152148848C>TCA370093258KMT2Cc.1267G>A
n.2211G>A
c.13250G>A (p.Trp4417Ter)
n.2379G>A
n.8271G>A
c.3652G>A
c.10589G>A (p.Trp3530Ter)
n.4709G>A
c.3724G>A
n.1845G>A
n.1795G>A
c.1496G>A (p.Trp499Ter)
c.7976G>A (p.Trp2659Ter)
c.13079G>A (p.Trp4360Ter)
c.8866G>A
c.3721G>A
c.3655G>A
n.7790G>A
c.7979G>A (p.Trp2660Ter)
c.12644G>A (p.Trp4215Ter)
c.3656G>A
n.2094G>A
c.5760G>A
c.2930G>A (p.Trp977Ter)
n.10961G>A
c.*10599G>A (n.*10599G>A)
c.13295G>A (p.Trp4432Ter)
c.13292G>A (p.Trp4431Ter)
c.13130G>A (p.Trp4377Ter)
c.13223G>A (p.Trp4408Ter)
c.13127G>A (p.Trp4376Ter)
c.13247G>A (p.Trp4416Ter)
c.13175G>A (p.Trp4392Ter)
c.13142G>A (p.Trp4381Ter)
c.13058G>A (p.Trp4353Ter)
c.12380G>A (p.Trp4127Ter)
c.10841G>A (p.Trp3614Ter)
c.13262G>A (p.Trp4421Ter)
c.13244G>A (p.Trp4415Ter)
c.13220G>A (p.Trp4407Ter)
c.13148G>A (p.Trp4383Ter)
c.13112G>A (p.Trp4371Ter)
c.9965G>A (p.Trp3322Ter)
c.9569G>A (p.Trp3190Ter)
7g.152148849A>CCA370093259KMT2Cc.1266T>G
n.2210T>G
c.13249T>G (p.Trp4417Gly)
n.2378T>G
n.8270T>G
c.3651T>G
c.10588T>G (p.Trp3530Gly)
n.4708T>G
c.3723T>G
n.1844T>G
n.1794T>G
c.1495T>G (p.Trp499Gly)
c.7975T>G (p.Trp2659Gly)
c.13078T>G (p.Trp4360Gly)
c.8865T>G
c.3720T>G
c.3654T>G
n.7789T>G
c.7978T>G (p.Trp2660Gly)
c.12643T>G (p.Trp4215Gly)
c.3655T>G
n.2093T>G
c.5759T>G
c.2929T>G (p.Trp977Gly)
n.10960T>G
c.*10598T>G (n.*10598T>G)
c.13294T>G (p.Trp4432Gly)
c.13291T>G (p.Trp4431Gly)
c.13129T>G (p.Trp4377Gly)
c.13222T>G (p.Trp4408Gly)
c.13126T>G (p.Trp4376Gly)
c.13246T>G (p.Trp4416Gly)
c.13174T>G (p.Trp4392Gly)
c.13141T>G (p.Trp4381Gly)
c.13057T>G (p.Trp4353Gly)
c.12379T>G (p.Trp4127Gly)
c.10840T>G (p.Trp3614Gly)
c.13261T>G (p.Trp4421Gly)
c.13243T>G (p.Trp4415Gly)
c.13219T>G (p.Trp4407Gly)
c.13147T>G (p.Trp4383Gly)
c.13111T>G (p.Trp4371Gly)
c.9964T>G (p.Trp3322Gly)
c.9568T>G (p.Trp3190Gly)
7g.152148849A>GCA370093261KMT2Cc.1266T>C
n.2210T>C
c.13249T>C (p.Trp4417Arg)
n.2378T>C
n.8270T>C
c.3651T>C
c.10588T>C (p.Trp3530Arg)
n.4708T>C
c.3723T>C
n.1844T>C
n.1794T>C
c.1495T>C (p.Trp499Arg)
c.7975T>C (p.Trp2659Arg)
c.13078T>C (p.Trp4360Arg)
c.8865T>C
c.3720T>C
c.3654T>C
n.7789T>C
c.7978T>C (p.Trp2660Arg)
c.12643T>C (p.Trp4215Arg)
c.3655T>C
n.2093T>C
c.5759T>C
c.2929T>C (p.Trp977Arg)
n.10960T>C
c.*10598T>C (n.*10598T>C)
c.13294T>C (p.Trp4432Arg)
c.13291T>C (p.Trp4431Arg)
c.13129T>C (p.Trp4377Arg)
c.13222T>C (p.Trp4408Arg)
c.13126T>C (p.Trp4376Arg)
c.13246T>C (p.Trp4416Arg)
c.13174T>C (p.Trp4392Arg)
c.13141T>C (p.Trp4381Arg)
c.13057T>C (p.Trp4353Arg)
c.12379T>C (p.Trp4127Arg)
c.10840T>C (p.Trp3614Arg)
c.13261T>C (p.Trp4421Arg)
c.13243T>C (p.Trp4415Arg)
c.13219T>C (p.Trp4407Arg)
c.13147T>C (p.Trp4383Arg)
c.13111T>C (p.Trp4371Arg)
c.9964T>C (p.Trp3322Arg)
c.9568T>C (p.Trp3190Arg)
COSMIC COSMIC
7g.152148849A>TCA370093263KMT2Cc.1266T>A
n.2210T>A
c.13249T>A (p.Trp4417Arg)
n.2378T>A
n.8270T>A
c.3651T>A
c.10588T>A (p.Trp3530Arg)
n.4708T>A
c.3723T>A
n.1844T>A
n.1794T>A
c.1495T>A (p.Trp499Arg)
c.7975T>A (p.Trp2659Arg)
c.13078T>A (p.Trp4360Arg)
c.8865T>A
c.3720T>A
c.3654T>A
n.7789T>A
c.7978T>A (p.Trp2660Arg)
c.12643T>A (p.Trp4215Arg)
c.3655T>A
n.2093T>A
c.5759T>A
c.2929T>A (p.Trp977Arg)
n.10960T>A
c.*10598T>A (n.*10598T>A)
c.13294T>A (p.Trp4432Arg)
c.13291T>A (p.Trp4431Arg)
c.13129T>A (p.Trp4377Arg)
c.13222T>A (p.Trp4408Arg)
c.13126T>A (p.Trp4376Arg)
c.13246T>A (p.Trp4416Arg)
c.13174T>A (p.Trp4392Arg)
c.13141T>A (p.Trp4381Arg)
c.13057T>A (p.Trp4353Arg)
c.12379T>A (p.Trp4127Arg)
c.10840T>A (p.Trp3614Arg)
c.13261T>A (p.Trp4421Arg)
c.13243T>A (p.Trp4415Arg)
c.13219T>A (p.Trp4407Arg)
c.13147T>A (p.Trp4383Arg)
c.13111T>A (p.Trp4371Arg)
c.9964T>A (p.Trp3322Arg)
c.9568T>A (p.Trp3190Arg)
dbSNP
7g.152148850C>ACA370093264KMT2Cc.1265G>T
n.2209G>T
c.13248G>T (p.Lys4416Asn)
n.2377G>T
n.8269G>T
c.3650G>T
c.10587G>T (p.Lys3529Asn)
n.4707G>T
c.3722G>T
n.1843G>T
n.1793G>T
c.1494G>T (p.Lys498Asn)
c.7974G>T (p.Lys2658Asn)
c.13077G>T (p.Lys4359Asn)
c.8864G>T
c.3719G>T
c.3653G>T
n.7788G>T
c.7977G>T (p.Lys2659Asn)
c.12642G>T (p.Lys4214Asn)
c.3654G>T
n.2092G>T
c.5758G>T
c.2928G>T (p.Lys976Asn)
n.10959G>T
c.*10597G>T (n.*10597G>T)
c.13293G>T (p.Lys4431Asn)
c.13290G>T (p.Lys4430Asn)
c.13128G>T (p.Lys4376Asn)
c.13221G>T (p.Lys4407Asn)
c.13125G>T (p.Lys4375Asn)
c.13245G>T (p.Lys4415Asn)
c.13173G>T (p.Lys4391Asn)
c.13140G>T (p.Lys4380Asn)
c.13056G>T (p.Lys4352Asn)
c.12378G>T (p.Lys4126Asn)
c.10839G>T (p.Lys3613Asn)
c.13260G>T (p.Lys4420Asn)
c.13242G>T (p.Lys4414Asn)
c.13218G>T (p.Lys4406Asn)
c.13146G>T (p.Lys4382Asn)
c.13110G>T (p.Lys4370Asn)
c.9963G>T (p.Lys3321Asn)
c.9567G>T (p.Lys3189Asn)
7g.152148850C>GCA370093265KMT2Cc.1265G>C
n.2209G>C
c.13248G>C (p.Lys4416Asn)
n.2377G>C
n.8269G>C
c.3650G>C
c.10587G>C (p.Lys3529Asn)
n.4707G>C
c.3722G>C
n.1843G>C
n.1793G>C
c.1494G>C (p.Lys498Asn)
c.7974G>C (p.Lys2658Asn)
c.13077G>C (p.Lys4359Asn)
c.8864G>C
c.3719G>C
c.3653G>C
n.7788G>C
c.7977G>C (p.Lys2659Asn)
c.12642G>C (p.Lys4214Asn)
c.3654G>C
n.2092G>C
c.5758G>C
c.2928G>C (p.Lys976Asn)
n.10959G>C
c.*10597G>C (n.*10597G>C)
c.13293G>C (p.Lys4431Asn)
c.13290G>C (p.Lys4430Asn)
c.13128G>C (p.Lys4376Asn)
c.13221G>C (p.Lys4407Asn)
c.13125G>C (p.Lys4375Asn)
c.13245G>C (p.Lys4415Asn)
c.13173G>C (p.Lys4391Asn)
c.13140G>C (p.Lys4380Asn)
c.13056G>C (p.Lys4352Asn)
c.12378G>C (p.Lys4126Asn)
c.10839G>C (p.Lys3613Asn)
c.13260G>C (p.Lys4420Asn)
c.13242G>C (p.Lys4414Asn)
c.13218G>C (p.Lys4406Asn)
c.13146G>C (p.Lys4382Asn)
c.13110G>C (p.Lys4370Asn)
c.9963G>C (p.Lys3321Asn)
c.9567G>C (p.Lys3189Asn)
COSMIC COSMIC
7g.152148850C>TCA458884860KMT2Cc.1265G>A
n.2209G>A
c.13248G>A (p.Lys4416=)
n.2377G>A
n.8269G>A
c.3650G>A
c.10587G>A (p.Lys3529=)
n.4707G>A
c.3722G>A
n.1843G>A
n.1793G>A
c.1494G>A (p.Lys498=)
c.7974G>A (p.Lys2658=)
c.13077G>A (p.Lys4359=)
c.8864G>A
c.3719G>A
c.3653G>A
n.7788G>A
c.7977G>A (p.Lys2659=)
c.12642G>A (p.Lys4214=)
c.3654G>A
n.2092G>A
c.5758G>A
c.2928G>A (p.Lys976=)
n.10959G>A
c.*10597G>A (n.*10597G>A)
c.13293G>A (p.Lys4431=)
c.13290G>A (p.Lys4430=)
c.13128G>A (p.Lys4376=)
c.13221G>A (p.Lys4407=)
c.13125G>A (p.Lys4375=)
c.13245G>A (p.Lys4415=)
c.13173G>A (p.Lys4391=)
c.13140G>A (p.Lys4380=)
c.13056G>A (p.Lys4352=)
c.12378G>A (p.Lys4126=)
c.10839G>A (p.Lys3613=)
c.13260G>A (p.Lys4420=)
c.13242G>A (p.Lys4414=)
c.13218G>A (p.Lys4406=)
c.13146G>A (p.Lys4382=)
c.13110G>A (p.Lys4370=)
c.9963G>A (p.Lys3321=)
c.9567G>A (p.Lys3189=)
7g.152148851T>ACA370093267KMT2Cc.1264A>T
n.2208A>T
c.13247A>T (p.Lys4416Met)
n.2376A>T
n.8268A>T
c.3649A>T
c.10586A>T (p.Lys3529Met)
n.4706A>T
c.3721A>T
n.1842A>T
n.1792A>T
c.1493A>T (p.Lys498Met)
c.7973A>T (p.Lys2658Met)
c.13076A>T (p.Lys4359Met)
c.8863A>T
c.3718A>T
c.3652A>T
n.7787A>T
c.7976A>T (p.Lys2659Met)
c.12641A>T (p.Lys4214Met)
c.3653A>T
n.2091A>T
c.5757A>T
c.2927A>T (p.Lys976Met)
n.10958A>T
c.*10596A>T (n.*10596A>T)
c.13292A>T (p.Lys4431Met)
c.13289A>T (p.Lys4430Met)
c.13127A>T (p.Lys4376Met)
c.13220A>T (p.Lys4407Met)
c.13124A>T (p.Lys4375Met)
c.13244A>T (p.Lys4415Met)
c.13172A>T (p.Lys4391Met)
c.13139A>T (p.Lys4380Met)
c.13055A>T (p.Lys4352Met)
c.12377A>T (p.Lys4126Met)
c.10838A>T (p.Lys3613Met)
c.13259A>T (p.Lys4420Met)
c.13241A>T (p.Lys4414Met)
c.13217A>T (p.Lys4406Met)
c.13145A>T (p.Lys4382Met)
c.13109A>T (p.Lys4370Met)
c.9962A>T (p.Lys3321Met)
c.9566A>T (p.Lys3189Met)
7g.152148851T>CCA370093268KMT2Cc.1264A>G
n.2208A>G
c.13247A>G (p.Lys4416Arg)
n.2376A>G
n.8268A>G
c.3649A>G
c.10586A>G (p.Lys3529Arg)
n.4706A>G
c.3721A>G
n.1842A>G
n.1792A>G
c.1493A>G (p.Lys498Arg)
c.7973A>G (p.Lys2658Arg)
c.13076A>G (p.Lys4359Arg)
c.8863A>G
c.3718A>G
c.3652A>G
n.7787A>G
c.7976A>G (p.Lys2659Arg)
c.12641A>G (p.Lys4214Arg)
c.3653A>G
n.2091A>G
c.5757A>G
c.2927A>G (p.Lys976Arg)
n.10958A>G
c.*10596A>G (n.*10596A>G)
c.13292A>G (p.Lys4431Arg)
c.13289A>G (p.Lys4430Arg)
c.13127A>G (p.Lys4376Arg)
c.13220A>G (p.Lys4407Arg)
c.13124A>G (p.Lys4375Arg)
c.13244A>G (p.Lys4415Arg)
c.13172A>G (p.Lys4391Arg)
c.13139A>G (p.Lys4380Arg)
c.13055A>G (p.Lys4352Arg)
c.12377A>G (p.Lys4126Arg)
c.10838A>G (p.Lys3613Arg)
c.13259A>G (p.Lys4420Arg)
c.13241A>G (p.Lys4414Arg)
c.13217A>G (p.Lys4406Arg)
c.13145A>G (p.Lys4382Arg)
c.13109A>G (p.Lys4370Arg)
c.9962A>G (p.Lys3321Arg)
c.9566A>G (p.Lys3189Arg)
7g.152148851T>GCA370093269KMT2Cc.1264A>C
n.2208A>C
c.13247A>C (p.Lys4416Thr)
n.2376A>C
n.8268A>C
c.3649A>C
c.10586A>C (p.Lys3529Thr)
n.4706A>C
c.3721A>C
n.1842A>C
n.1792A>C
c.1493A>C (p.Lys498Thr)
c.7973A>C (p.Lys2658Thr)
c.13076A>C (p.Lys4359Thr)
c.8863A>C
c.3718A>C
c.3652A>C
n.7787A>C
c.7976A>C (p.Lys2659Thr)
c.12641A>C (p.Lys4214Thr)
c.3653A>C
n.2091A>C
c.5757A>C
c.2927A>C (p.Lys976Thr)
n.10958A>C
c.*10596A>C (n.*10596A>C)
c.13292A>C (p.Lys4431Thr)
c.13289A>C (p.Lys4430Thr)
c.13127A>C (p.Lys4376Thr)
c.13220A>C (p.Lys4407Thr)
c.13124A>C (p.Lys4375Thr)
c.13244A>C (p.Lys4415Thr)
c.13172A>C (p.Lys4391Thr)
c.13139A>C (p.Lys4380Thr)
c.13055A>C (p.Lys4352Thr)
c.12377A>C (p.Lys4126Thr)
c.10838A>C (p.Lys3613Thr)
c.13259A>C (p.Lys4420Thr)
c.13241A>C (p.Lys4414Thr)
c.13217A>C (p.Lys4406Thr)
c.13145A>C (p.Lys4382Thr)
c.13109A>C (p.Lys4370Thr)
c.9962A>C (p.Lys3321Thr)
c.9566A>C (p.Lys3189Thr)
7g.152148852T>ACA370093271KMT2Cc.1263A>T
n.2207A>T
c.13246A>T (p.Lys4416Ter)
n.2375A>T
n.8267A>T
c.3648A>T
c.10585A>T (p.Lys3529Ter)
n.4705A>T
c.3720A>T
n.1841A>T
n.1791A>T
c.1492A>T (p.Lys498Ter)
c.7972A>T (p.Lys2658Ter)
c.13075A>T (p.Lys4359Ter)
c.8862A>T
c.3717A>T
c.3651A>T
n.7786A>T
c.7975A>T (p.Lys2659Ter)
c.12640A>T (p.Lys4214Ter)
c.3652A>T
n.2090A>T
c.5756A>T
c.2926A>T (p.Lys976Ter)
n.10957A>T
c.*10595A>T (n.*10595A>T)
c.13291A>T (p.Lys4431Ter)
c.13288A>T (p.Lys4430Ter)
c.13126A>T (p.Lys4376Ter)
c.13219A>T (p.Lys4407Ter)
c.13123A>T (p.Lys4375Ter)
c.13243A>T (p.Lys4415Ter)
c.13171A>T (p.Lys4391Ter)
c.13138A>T (p.Lys4380Ter)
c.13054A>T (p.Lys4352Ter)
c.12376A>T (p.Lys4126Ter)
c.10837A>T (p.Lys3613Ter)
c.13258A>T (p.Lys4420Ter)
c.13240A>T (p.Lys4414Ter)
c.13216A>T (p.Lys4406Ter)
c.13144A>T (p.Lys4382Ter)
c.13108A>T (p.Lys4370Ter)
c.9961A>T (p.Lys3321Ter)
c.9565A>T (p.Lys3189Ter)
7g.152148852T>CCA370093272KMT2Cc.1263A>G
n.2207A>G
c.13246A>G (p.Lys4416Glu)
n.2375A>G
n.8267A>G
c.3648A>G
c.10585A>G (p.Lys3529Glu)
n.4705A>G
c.3720A>G
n.1841A>G
n.1791A>G
c.1492A>G (p.Lys498Glu)
c.7972A>G (p.Lys2658Glu)
c.13075A>G (p.Lys4359Glu)
c.8862A>G
c.3717A>G
c.3651A>G
n.7786A>G
c.7975A>G (p.Lys2659Glu)
c.12640A>G (p.Lys4214Glu)
c.3652A>G
n.2090A>G
c.5756A>G
c.2926A>G (p.Lys976Glu)
n.10957A>G
c.*10595A>G (n.*10595A>G)
c.13291A>G (p.Lys4431Glu)
c.13288A>G (p.Lys4430Glu)
c.13126A>G (p.Lys4376Glu)
c.13219A>G (p.Lys4407Glu)
c.13123A>G (p.Lys4375Glu)
c.13243A>G (p.Lys4415Glu)
c.13171A>G (p.Lys4391Glu)
c.13138A>G (p.Lys4380Glu)
c.13054A>G (p.Lys4352Glu)
c.12376A>G (p.Lys4126Glu)
c.10837A>G (p.Lys3613Glu)
c.13258A>G (p.Lys4420Glu)
c.13240A>G (p.Lys4414Glu)
c.13216A>G (p.Lys4406Glu)
c.13144A>G (p.Lys4382Glu)
c.13108A>G (p.Lys4370Glu)
c.9961A>G (p.Lys3321Glu)
c.9565A>G (p.Lys3189Glu)
7g.152148852T>GCA370093273KMT2Cc.1263A>C
n.2207A>C
c.13246A>C (p.Lys4416Gln)
n.2375A>C
n.8267A>C
c.3648A>C
c.10585A>C (p.Lys3529Gln)
n.4705A>C
c.3720A>C
n.1841A>C
n.1791A>C
c.1492A>C (p.Lys498Gln)
c.7972A>C (p.Lys2658Gln)
c.13075A>C (p.Lys4359Gln)
c.8862A>C
c.3717A>C
c.3651A>C
n.7786A>C
c.7975A>C (p.Lys2659Gln)
c.12640A>C (p.Lys4214Gln)
c.3652A>C
n.2090A>C
c.5756A>C
c.2926A>C (p.Lys976Gln)
n.10957A>C
c.*10595A>C (n.*10595A>C)
c.13291A>C (p.Lys4431Gln)
c.13288A>C (p.Lys4430Gln)
c.13126A>C (p.Lys4376Gln)
c.13219A>C (p.Lys4407Gln)
c.13123A>C (p.Lys4375Gln)
c.13243A>C (p.Lys4415Gln)
c.13171A>C (p.Lys4391Gln)
c.13138A>C (p.Lys4380Gln)
c.13054A>C (p.Lys4352Gln)
c.12376A>C (p.Lys4126Gln)
c.10837A>C (p.Lys3613Gln)
c.13258A>C (p.Lys4420Gln)
c.13240A>C (p.Lys4414Gln)
c.13216A>C (p.Lys4406Gln)
c.13144A>C (p.Lys4382Gln)
c.13108A>C (p.Lys4370Gln)
c.9961A>C (p.Lys3321Gln)
c.9565A>C (p.Lys3189Gln)
7g.152148853C>ACA370093274KMT2Cc.1262G>T
n.2206G>T
c.13245G>T (p.Lys4415Asn)
n.2374G>T
n.8266G>T
c.3647G>T
c.10584G>T (p.Lys3528Asn)
n.4704G>T
c.3719G>T
n.1840G>T
n.1790G>T
c.1491G>T (p.Lys497Asn)
c.7971G>T (p.Lys2657Asn)
c.13074G>T (p.Lys4358Asn)
c.8861G>T
c.3716G>T
c.3650G>T
n.7785G>T
c.7974G>T (p.Lys2658Asn)
c.12639G>T (p.Lys4213Asn)
c.3651G>T
n.2089G>T
c.5755G>T
c.2925G>T (p.Lys975Asn)
n.10956G>T
c.*10594G>T (n.*10594G>T)
c.13290G>T (p.Lys4430Asn)
c.13287G>T (p.Lys4429Asn)
c.13125G>T (p.Lys4375Asn)
c.13218G>T (p.Lys4406Asn)
c.13122G>T (p.Lys4374Asn)
c.13242G>T (p.Lys4414Asn)
c.13170G>T (p.Lys4390Asn)
c.13137G>T (p.Lys4379Asn)
c.13053G>T (p.Lys4351Asn)
c.12375G>T (p.Lys4125Asn)
c.10836G>T (p.Lys3612Asn)
c.13257G>T (p.Lys4419Asn)
c.13239G>T (p.Lys4413Asn)
c.13215G>T (p.Lys4405Asn)
c.13143G>T (p.Lys4381Asn)
c.13107G>T (p.Lys4369Asn)
c.9960G>T (p.Lys3320Asn)
c.9564G>T (p.Lys3188Asn)
7g.152148853C=CA1752986447KMT2Cc.1262G=
n.2206G=
c.13245G= (p.Lys4415=)
n.2374G=
n.8266G=
c.3647G=
c.10584G= (p.Lys3528=)
n.4704G=
c.3719G=
n.1840G=
n.1790G=
c.1491G= (p.Lys497=)
c.7971G= (p.Lys2657=)
c.13074G= (p.Lys4358=)
c.8861G=
c.3716G=
c.3650G=
n.7785G=
c.7974G= (p.Lys2658=)
c.12639G= (p.Lys4213=)
c.3651G=
n.2089G=
c.5755G=
c.2925G= (p.Lys975=)
n.10956G=
c.*10594G= (n.*10594G=)
c.13290G= (p.Lys4430=)
c.13287G= (p.Lys4429=)
c.13125G= (p.Lys4375=)
c.13218G= (p.Lys4406=)
c.13122G= (p.Lys4374=)
c.13242G= (p.Lys4414=)
c.13170G= (p.Lys4390=)
c.13137G= (p.Lys4379=)
c.13053G= (p.Lys4351=)
c.12375G= (p.Lys4125=)
c.10836G= (p.Lys3612=)
c.13257G= (p.Lys4419=)
c.13239G= (p.Lys4413=)
c.13215G= (p.Lys4405=)
c.13143G= (p.Lys4381=)
c.13107G= (p.Lys4369=)
c.9960G= (p.Lys3320=)
c.9564G= (p.Lys3188=)
7g.152148853C>GCA370093275KMT2Cc.1262G>C
n.2206G>C
c.13245G>C (p.Lys4415Asn)
n.2374G>C
n.8266G>C
c.3647G>C
c.10584G>C (p.Lys3528Asn)
n.4704G>C
c.3719G>C
n.1840G>C
n.1790G>C
c.1491G>C (p.Lys497Asn)
c.7971G>C (p.Lys2657Asn)
c.13074G>C (p.Lys4358Asn)
c.8861G>C
c.3716G>C
c.3650G>C
n.7785G>C
c.7974G>C (p.Lys2658Asn)
c.12639G>C (p.Lys4213Asn)
c.3651G>C
n.2089G>C
c.5755G>C
c.2925G>C (p.Lys975Asn)
n.10956G>C
c.*10594G>C (n.*10594G>C)
c.13290G>C (p.Lys4430Asn)
c.13287G>C (p.Lys4429Asn)
c.13125G>C (p.Lys4375Asn)
c.13218G>C (p.Lys4406Asn)
c.13122G>C (p.Lys4374Asn)
c.13242G>C (p.Lys4414Asn)
c.13170G>C (p.Lys4390Asn)
c.13137G>C (p.Lys4379Asn)
c.13053G>C (p.Lys4351Asn)
c.12375G>C (p.Lys4125Asn)
c.10836G>C (p.Lys3612Asn)
c.13257G>C (p.Lys4419Asn)
c.13239G>C (p.Lys4413Asn)
c.13215G>C (p.Lys4405Asn)
c.13143G>C (p.Lys4381Asn)
c.13107G>C (p.Lys4369Asn)
c.9960G>C (p.Lys3320Asn)
c.9564G>C (p.Lys3188Asn)
7g.152148853C>TCA4578674KMT2Cc.1262G>A
n.2206G>A
c.13245G>A (p.Lys4415=)
n.2374G>A
n.8266G>A
c.3647G>A
c.10584G>A (p.Lys3528=)
n.4704G>A
c.3719G>A
n.1840G>A
n.1790G>A
c.1491G>A (p.Lys497=)
c.7971G>A (p.Lys2657=)
c.13074G>A (p.Lys4358=)
c.8861G>A
c.3716G>A
c.3650G>A
n.7785G>A
c.7974G>A (p.Lys2658=)
c.12639G>A (p.Lys4213=)
c.3651G>A
n.2089G>A
c.5755G>A
c.2925G>A (p.Lys975=)
n.10956G>A
c.*10594G>A (n.*10594G>A)
c.13290G>A (p.Lys4430=)
c.13287G>A (p.Lys4429=)
c.13125G>A (p.Lys4375=)
c.13218G>A (p.Lys4406=)
c.13122G>A (p.Lys4374=)
c.13242G>A (p.Lys4414=)
c.13170G>A (p.Lys4390=)
c.13137G>A (p.Lys4379=)
c.13053G>A (p.Lys4351=)
c.12375G>A (p.Lys4125=)
c.10836G>A (p.Lys3612=)
c.13257G>A (p.Lys4419=)
c.13239G>A (p.Lys4413=)
c.13215G>A (p.Lys4405=)
c.13143G>A (p.Lys4381=)
c.13107G>A (p.Lys4369=)
c.9960G>A (p.Lys3320=)
c.9564G>A (p.Lys3188=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148854T>ACA370093276KMT2Cc.1261A>T
n.2205A>T
c.13244A>T (p.Lys4415Met)
n.2373A>T
n.8265A>T
c.3646A>T
c.10583A>T (p.Lys3528Met)
n.4703A>T
c.3718A>T
n.1839A>T
n.1789A>T
c.1490A>T (p.Lys497Met)
c.7970A>T (p.Lys2657Met)
c.13073A>T (p.Lys4358Met)
c.8860A>T
c.3715A>T
c.3649A>T
n.7784A>T
c.7973A>T (p.Lys2658Met)
c.12638A>T (p.Lys4213Met)
c.3650A>T
n.2088A>T
c.5754A>T
c.2924A>T (p.Lys975Met)
n.10955A>T
c.*10593A>T (n.*10593A>T)
c.13289A>T (p.Lys4430Met)
c.13286A>T (p.Lys4429Met)
c.13124A>T (p.Lys4375Met)
c.13217A>T (p.Lys4406Met)
c.13121A>T (p.Lys4374Met)
c.13241A>T (p.Lys4414Met)
c.13169A>T (p.Lys4390Met)
c.13136A>T (p.Lys4379Met)
c.13052A>T (p.Lys4351Met)
c.12374A>T (p.Lys4125Met)
c.10835A>T (p.Lys3612Met)
c.13256A>T (p.Lys4419Met)
c.13238A>T (p.Lys4413Met)
c.13214A>T (p.Lys4405Met)
c.13142A>T (p.Lys4381Met)
c.13106A>T (p.Lys4369Met)
c.9959A>T (p.Lys3320Met)
c.9563A>T (p.Lys3188Met)
7g.152148854T>CCA370093277KMT2Cc.1261A>G
n.2205A>G
c.13244A>G (p.Lys4415Arg)
n.2373A>G
n.8265A>G
c.3646A>G
c.10583A>G (p.Lys3528Arg)
n.4703A>G
c.3718A>G
n.1839A>G
n.1789A>G
c.1490A>G (p.Lys497Arg)
c.7970A>G (p.Lys2657Arg)
c.13073A>G (p.Lys4358Arg)
c.8860A>G
c.3715A>G
c.3649A>G
n.7784A>G
c.7973A>G (p.Lys2658Arg)
c.12638A>G (p.Lys4213Arg)
c.3650A>G
n.2088A>G
c.5754A>G
c.2924A>G (p.Lys975Arg)
n.10955A>G
c.*10593A>G (n.*10593A>G)
c.13289A>G (p.Lys4430Arg)
c.13286A>G (p.Lys4429Arg)
c.13124A>G (p.Lys4375Arg)
c.13217A>G (p.Lys4406Arg)
c.13121A>G (p.Lys4374Arg)
c.13241A>G (p.Lys4414Arg)
c.13169A>G (p.Lys4390Arg)
c.13136A>G (p.Lys4379Arg)
c.13052A>G (p.Lys4351Arg)
c.12374A>G (p.Lys4125Arg)
c.10835A>G (p.Lys3612Arg)
c.13256A>G (p.Lys4419Arg)
c.13238A>G (p.Lys4413Arg)
c.13214A>G (p.Lys4405Arg)
c.13142A>G (p.Lys4381Arg)
c.13106A>G (p.Lys4369Arg)
c.9959A>G (p.Lys3320Arg)
c.9563A>G (p.Lys3188Arg)
7g.152148854T>GCA370093278KMT2Cc.1261A>C
n.2205A>C
c.13244A>C (p.Lys4415Thr)
n.2373A>C
n.8265A>C
c.3646A>C
c.10583A>C (p.Lys3528Thr)
n.4703A>C
c.3718A>C
n.1839A>C
n.1789A>C
c.1490A>C (p.Lys497Thr)
c.7970A>C (p.Lys2657Thr)
c.13073A>C (p.Lys4358Thr)
c.8860A>C
c.3715A>C
c.3649A>C
n.7784A>C
c.7973A>C (p.Lys2658Thr)
c.12638A>C (p.Lys4213Thr)
c.3650A>C
n.2088A>C
c.5754A>C
c.2924A>C (p.Lys975Thr)
n.10955A>C
c.*10593A>C (n.*10593A>C)
c.13289A>C (p.Lys4430Thr)
c.13286A>C (p.Lys4429Thr)
c.13124A>C (p.Lys4375Thr)
c.13217A>C (p.Lys4406Thr)
c.13121A>C (p.Lys4374Thr)
c.13241A>C (p.Lys4414Thr)
c.13169A>C (p.Lys4390Thr)
c.13136A>C (p.Lys4379Thr)
c.13052A>C (p.Lys4351Thr)
c.12374A>C (p.Lys4125Thr)
c.10835A>C (p.Lys3612Thr)
c.13256A>C (p.Lys4419Thr)
c.13238A>C (p.Lys4413Thr)
c.13214A>C (p.Lys4405Thr)
c.13142A>C (p.Lys4381Thr)
c.13106A>C (p.Lys4369Thr)
c.9959A>C (p.Lys3320Thr)
c.9563A>C (p.Lys3188Thr)
7g.152148855T>ACA370093279KMT2Cc.1260A>T
n.2204A>T
c.13243A>T (p.Lys4415Ter)
n.2372A>T
n.8264A>T
c.3645A>T
c.10582A>T (p.Lys3528Ter)
n.4702A>T
c.3717A>T
n.1838A>T
n.1788A>T
c.1489A>T (p.Lys497Ter)
c.7969A>T (p.Lys2657Ter)
c.13072A>T (p.Lys4358Ter)
c.8859A>T
c.3714A>T
c.3648A>T
n.7783A>T
c.7972A>T (p.Lys2658Ter)
c.12637A>T (p.Lys4213Ter)
c.3649A>T
n.2087A>T
c.5753A>T
c.2923A>T (p.Lys975Ter)
n.10954A>T
c.*10592A>T (n.*10592A>T)
c.13288A>T (p.Lys4430Ter)
c.13285A>T (p.Lys4429Ter)
c.13123A>T (p.Lys4375Ter)
c.13216A>T (p.Lys4406Ter)
c.13120A>T (p.Lys4374Ter)
c.13240A>T (p.Lys4414Ter)
c.13168A>T (p.Lys4390Ter)
c.13135A>T (p.Lys4379Ter)
c.13051A>T (p.Lys4351Ter)
c.12373A>T (p.Lys4125Ter)
c.10834A>T (p.Lys3612Ter)
c.13255A>T (p.Lys4419Ter)
c.13237A>T (p.Lys4413Ter)
c.13213A>T (p.Lys4405Ter)
c.13141A>T (p.Lys4381Ter)
c.13105A>T (p.Lys4369Ter)
c.9958A>T (p.Lys3320Ter)
c.9562A>T (p.Lys3188Ter)
7g.152148855T>CCA370093281KMT2Cc.1260A>G
n.2204A>G
c.13243A>G (p.Lys4415Glu)
n.2372A>G
n.8264A>G
c.3645A>G
c.10582A>G (p.Lys3528Glu)
n.4702A>G
c.3717A>G
n.1838A>G
n.1788A>G
c.1489A>G (p.Lys497Glu)
c.7969A>G (p.Lys2657Glu)
c.13072A>G (p.Lys4358Glu)
c.8859A>G
c.3714A>G
c.3648A>G
n.7783A>G
c.7972A>G (p.Lys2658Glu)
c.12637A>G (p.Lys4213Glu)
c.3649A>G
n.2087A>G
c.5753A>G
c.2923A>G (p.Lys975Glu)
n.10954A>G
c.*10592A>G (n.*10592A>G)
c.13288A>G (p.Lys4430Glu)
c.13285A>G (p.Lys4429Glu)
c.13123A>G (p.Lys4375Glu)
c.13216A>G (p.Lys4406Glu)
c.13120A>G (p.Lys4374Glu)
c.13240A>G (p.Lys4414Glu)
c.13168A>G (p.Lys4390Glu)
c.13135A>G (p.Lys4379Glu)
c.13051A>G (p.Lys4351Glu)
c.12373A>G (p.Lys4125Glu)
c.10834A>G (p.Lys3612Glu)
c.13255A>G (p.Lys4419Glu)
c.13237A>G (p.Lys4413Glu)
c.13213A>G (p.Lys4405Glu)
c.13141A>G (p.Lys4381Glu)
c.13105A>G (p.Lys4369Glu)
c.9958A>G (p.Lys3320Glu)
c.9562A>G (p.Lys3188Glu)
7g.152148855T>GCA370093282KMT2Cc.1260A>C
n.2204A>C
c.13243A>C (p.Lys4415Gln)
n.2372A>C
n.8264A>C
c.3645A>C
c.10582A>C (p.Lys3528Gln)
n.4702A>C
c.3717A>C
n.1838A>C
n.1788A>C
c.1489A>C (p.Lys497Gln)
c.7969A>C (p.Lys2657Gln)
c.13072A>C (p.Lys4358Gln)
c.8859A>C
c.3714A>C
c.3648A>C
n.7783A>C
c.7972A>C (p.Lys2658Gln)
c.12637A>C (p.Lys4213Gln)
c.3649A>C
n.2087A>C
c.5753A>C
c.2923A>C (p.Lys975Gln)
n.10954A>C
c.*10592A>C (n.*10592A>C)
c.13288A>C (p.Lys4430Gln)
c.13285A>C (p.Lys4429Gln)
c.13123A>C (p.Lys4375Gln)
c.13216A>C (p.Lys4406Gln)
c.13120A>C (p.Lys4374Gln)
c.13240A>C (p.Lys4414Gln)
c.13168A>C (p.Lys4390Gln)
c.13135A>C (p.Lys4379Gln)
c.13051A>C (p.Lys4351Gln)
c.12373A>C (p.Lys4125Gln)
c.10834A>C (p.Lys3612Gln)
c.13255A>C (p.Lys4419Gln)
c.13237A>C (p.Lys4413Gln)
c.13213A>C (p.Lys4405Gln)
c.13141A>C (p.Lys4381Gln)
c.13105A>C (p.Lys4369Gln)
c.9958A>C (p.Lys3320Gln)
c.9562A>C (p.Lys3188Gln)
gnomAD v4
7g.152148856C>ACA370093283KMT2Cc.1259G>T
n.2203G>T
c.13242G>T (p.Trp4414Cys)
n.2371G>T
n.8263G>T
c.3644G>T
c.10581G>T (p.Trp3527Cys)
n.4701G>T
c.3716G>T
n.1837G>T
n.1787G>T
c.1488G>T (p.Trp496Cys)
c.7968G>T (p.Trp2656Cys)
c.13071G>T (p.Trp4357Cys)
c.8858G>T
c.3713G>T
c.3647G>T
n.7782G>T
c.7971G>T (p.Trp2657Cys)
c.12636G>T (p.Trp4212Cys)
c.3648G>T
n.2086G>T
c.5752G>T
c.2922G>T (p.Trp974Cys)
n.10953G>T
c.*10591G>T (n.*10591G>T)
c.13287G>T (p.Trp4429Cys)
c.13284G>T (p.Trp4428Cys)
c.13122G>T (p.Trp4374Cys)
c.13215G>T (p.Trp4405Cys)
c.13119G>T (p.Trp4373Cys)
c.13239G>T (p.Trp4413Cys)
c.13167G>T (p.Trp4389Cys)
c.13134G>T (p.Trp4378Cys)
c.13050G>T (p.Trp4350Cys)
c.12372G>T (p.Trp4124Cys)
c.10833G>T (p.Trp3611Cys)
c.13254G>T (p.Trp4418Cys)
c.13236G>T (p.Trp4412Cys)
c.13212G>T (p.Trp4404Cys)
c.13140G>T (p.Trp4380Cys)
c.13104G>T (p.Trp4368Cys)
c.9957G>T (p.Trp3319Cys)
c.9561G>T (p.Trp3187Cys)
7g.152148856C>GCA370093284KMT2Cc.1259G>C
n.2203G>C
c.13242G>C (p.Trp4414Cys)
n.2371G>C
n.8263G>C
c.3644G>C
c.10581G>C (p.Trp3527Cys)
n.4701G>C
c.3716G>C
n.1837G>C
n.1787G>C
c.1488G>C (p.Trp496Cys)
c.7968G>C (p.Trp2656Cys)
c.13071G>C (p.Trp4357Cys)
c.8858G>C
c.3713G>C
c.3647G>C
n.7782G>C
c.7971G>C (p.Trp2657Cys)
c.12636G>C (p.Trp4212Cys)
c.3648G>C
n.2086G>C
c.5752G>C
c.2922G>C (p.Trp974Cys)
n.10953G>C
c.*10591G>C (n.*10591G>C)
c.13287G>C (p.Trp4429Cys)
c.13284G>C (p.Trp4428Cys)
c.13122G>C (p.Trp4374Cys)
c.13215G>C (p.Trp4405Cys)
c.13119G>C (p.Trp4373Cys)
c.13239G>C (p.Trp4413Cys)
c.13167G>C (p.Trp4389Cys)
c.13134G>C (p.Trp4378Cys)
c.13050G>C (p.Trp4350Cys)
c.12372G>C (p.Trp4124Cys)
c.10833G>C (p.Trp3611Cys)
c.13254G>C (p.Trp4418Cys)
c.13236G>C (p.Trp4412Cys)
c.13212G>C (p.Trp4404Cys)
c.13140G>C (p.Trp4380Cys)
c.13104G>C (p.Trp4368Cys)
c.9957G>C (p.Trp3319Cys)
c.9561G>C (p.Trp3187Cys)
dbSNP
7g.152148856C>TCA370093286KMT2Cc.1259G>A
n.2203G>A
c.13242G>A (p.Trp4414Ter)
n.2371G>A
n.8263G>A
c.3644G>A
c.10581G>A (p.Trp3527Ter)
n.4701G>A
c.3716G>A
n.1837G>A
n.1787G>A
c.1488G>A (p.Trp496Ter)
c.7968G>A (p.Trp2656Ter)
c.13071G>A (p.Trp4357Ter)
c.8858G>A
c.3713G>A
c.3647G>A
n.7782G>A
c.7971G>A (p.Trp2657Ter)
c.12636G>A (p.Trp4212Ter)
c.3648G>A
n.2086G>A
c.5752G>A
c.2922G>A (p.Trp974Ter)
n.10953G>A
c.*10591G>A (n.*10591G>A)
c.13287G>A (p.Trp4429Ter)
c.13284G>A (p.Trp4428Ter)
c.13122G>A (p.Trp4374Ter)
c.13215G>A (p.Trp4405Ter)
c.13119G>A (p.Trp4373Ter)
c.13239G>A (p.Trp4413Ter)
c.13167G>A (p.Trp4389Ter)
c.13134G>A (p.Trp4378Ter)
c.13050G>A (p.Trp4350Ter)
c.12372G>A (p.Trp4124Ter)
c.10833G>A (p.Trp3611Ter)
c.13254G>A (p.Trp4418Ter)
c.13236G>A (p.Trp4412Ter)
c.13212G>A (p.Trp4404Ter)
c.13140G>A (p.Trp4380Ter)
c.13104G>A (p.Trp4368Ter)
c.9957G>A (p.Trp3319Ter)
c.9561G>A (p.Trp3187Ter)
dbSNP COSMIC
7g.152148857C>ACA370093288KMT2Cc.1258G>T
n.2202G>T
c.13241G>T (p.Trp4414Leu)
n.2370G>T
n.8262G>T
c.3643G>T
c.10580G>T (p.Trp3527Leu)
n.4700G>T
c.3715G>T
n.1836G>T
n.1786G>T
c.1487G>T (p.Trp496Leu)
c.7967G>T (p.Trp2656Leu)
c.13070G>T (p.Trp4357Leu)
c.8857G>T
c.3712G>T
c.3646G>T
n.7781G>T
c.7970G>T (p.Trp2657Leu)
c.12635G>T (p.Trp4212Leu)
c.3647G>T
n.2085G>T
c.5751G>T
c.2921G>T (p.Trp974Leu)
n.10952G>T
c.*10590G>T (n.*10590G>T)
c.13286G>T (p.Trp4429Leu)
c.13283G>T (p.Trp4428Leu)
c.13121G>T (p.Trp4374Leu)
c.13214G>T (p.Trp4405Leu)
c.13118G>T (p.Trp4373Leu)
c.13238G>T (p.Trp4413Leu)
c.13166G>T (p.Trp4389Leu)
c.13133G>T (p.Trp4378Leu)
c.13049G>T (p.Trp4350Leu)
c.12371G>T (p.Trp4124Leu)
c.10832G>T (p.Trp3611Leu)
c.13253G>T (p.Trp4418Leu)
c.13235G>T (p.Trp4412Leu)
c.13211G>T (p.Trp4404Leu)
c.13139G>T (p.Trp4380Leu)
c.13103G>T (p.Trp4368Leu)
c.9956G>T (p.Trp3319Leu)
c.9560G>T (p.Trp3187Leu)
7g.152148857C>GCA370093290KMT2Cc.1258G>C
n.2202G>C
c.13241G>C (p.Trp4414Ser)
n.2370G>C
n.8262G>C
c.3643G>C
c.10580G>C (p.Trp3527Ser)
n.4700G>C
c.3715G>C
n.1836G>C
n.1786G>C
c.1487G>C (p.Trp496Ser)
c.7967G>C (p.Trp2656Ser)
c.13070G>C (p.Trp4357Ser)
c.8857G>C
c.3712G>C
c.3646G>C
n.7781G>C
c.7970G>C (p.Trp2657Ser)
c.12635G>C (p.Trp4212Ser)
c.3647G>C
n.2085G>C
c.5751G>C
c.2921G>C (p.Trp974Ser)
n.10952G>C
c.*10590G>C (n.*10590G>C)
c.13286G>C (p.Trp4429Ser)
c.13283G>C (p.Trp4428Ser)
c.13121G>C (p.Trp4374Ser)
c.13214G>C (p.Trp4405Ser)
c.13118G>C (p.Trp4373Ser)
c.13238G>C (p.Trp4413Ser)
c.13166G>C (p.Trp4389Ser)
c.13133G>C (p.Trp4378Ser)
c.13049G>C (p.Trp4350Ser)
c.12371G>C (p.Trp4124Ser)
c.10832G>C (p.Trp3611Ser)
c.13253G>C (p.Trp4418Ser)
c.13235G>C (p.Trp4412Ser)
c.13211G>C (p.Trp4404Ser)
c.13139G>C (p.Trp4380Ser)
c.13103G>C (p.Trp4368Ser)
c.9956G>C (p.Trp3319Ser)
c.9560G>C (p.Trp3187Ser)
7g.152148857C>TCA370093291KMT2Cc.1258G>A
n.2202G>A
c.13241G>A (p.Trp4414Ter)
n.2370G>A
n.8262G>A
c.3643G>A
c.10580G>A (p.Trp3527Ter)
n.4700G>A
c.3715G>A
n.1836G>A
n.1786G>A
c.1487G>A (p.Trp496Ter)
c.7967G>A (p.Trp2656Ter)
c.13070G>A (p.Trp4357Ter)
c.8857G>A
c.3712G>A
c.3646G>A
n.7781G>A
c.7970G>A (p.Trp2657Ter)
c.12635G>A (p.Trp4212Ter)
c.3647G>A
n.2085G>A
c.5751G>A
c.2921G>A (p.Trp974Ter)
n.10952G>A
c.*10590G>A (n.*10590G>A)
c.13286G>A (p.Trp4429Ter)
c.13283G>A (p.Trp4428Ter)
c.13121G>A (p.Trp4374Ter)
c.13214G>A (p.Trp4405Ter)
c.13118G>A (p.Trp4373Ter)
c.13238G>A (p.Trp4413Ter)
c.13166G>A (p.Trp4389Ter)
c.13133G>A (p.Trp4378Ter)
c.13049G>A (p.Trp4350Ter)
c.12371G>A (p.Trp4124Ter)
c.10832G>A (p.Trp3611Ter)
c.13253G>A (p.Trp4418Ter)
c.13235G>A (p.Trp4412Ter)
c.13211G>A (p.Trp4404Ter)
c.13139G>A (p.Trp4380Ter)
c.13103G>A (p.Trp4368Ter)
c.9956G>A (p.Trp3319Ter)
c.9560G>A (p.Trp3187Ter)
7g.152148858A>CCA370093296KMT2Cc.1257T>G
n.2201T>G
c.13240T>G (p.Trp4414Gly)
n.2369T>G
n.8261T>G
c.3642T>G
c.10579T>G (p.Trp3527Gly)
n.4699T>G
c.3714T>G
n.1835T>G
n.1785T>G
c.1486T>G (p.Trp496Gly)
c.7966T>G (p.Trp2656Gly)
c.13069T>G (p.Trp4357Gly)
c.8856T>G
c.3711T>G
c.3645T>G
n.7780T>G
c.7969T>G (p.Trp2657Gly)
c.12634T>G (p.Trp4212Gly)
c.3646T>G
n.2084T>G
c.5750T>G
c.2920T>G (p.Trp974Gly)
n.10951T>G
c.*10589T>G (n.*10589T>G)
c.13285T>G (p.Trp4429Gly)
c.13282T>G (p.Trp4428Gly)
c.13120T>G (p.Trp4374Gly)
c.13213T>G (p.Trp4405Gly)
c.13117T>G (p.Trp4373Gly)
c.13237T>G (p.Trp4413Gly)
c.13165T>G (p.Trp4389Gly)
c.13132T>G (p.Trp4378Gly)
c.13048T>G (p.Trp4350Gly)
c.12370T>G (p.Trp4124Gly)
c.10831T>G (p.Trp3611Gly)
c.13252T>G (p.Trp4418Gly)
c.13234T>G (p.Trp4412Gly)
c.13210T>G (p.Trp4404Gly)
c.13138T>G (p.Trp4380Gly)
c.13102T>G (p.Trp4368Gly)
c.9955T>G (p.Trp3319Gly)
c.9559T>G (p.Trp3187Gly)
7g.152148858A>GCA370093292KMT2Cc.1257T>C
n.2201T>C
c.13240T>C (p.Trp4414Arg)
n.2369T>C
n.8261T>C
c.3642T>C
c.10579T>C (p.Trp3527Arg)
n.4699T>C
c.3714T>C
n.1835T>C
n.1785T>C
c.1486T>C (p.Trp496Arg)
c.7966T>C (p.Trp2656Arg)
c.13069T>C (p.Trp4357Arg)
c.8856T>C
c.3711T>C
c.3645T>C
n.7780T>C
c.7969T>C (p.Trp2657Arg)
c.12634T>C (p.Trp4212Arg)
c.3646T>C
n.2084T>C
c.5750T>C
c.2920T>C (p.Trp974Arg)
n.10951T>C
c.*10589T>C (n.*10589T>C)
c.13285T>C (p.Trp4429Arg)
c.13282T>C (p.Trp4428Arg)
c.13120T>C (p.Trp4374Arg)
c.13213T>C (p.Trp4405Arg)
c.13117T>C (p.Trp4373Arg)
c.13237T>C (p.Trp4413Arg)
c.13165T>C (p.Trp4389Arg)
c.13132T>C (p.Trp4378Arg)
c.13048T>C (p.Trp4350Arg)
c.12370T>C (p.Trp4124Arg)
c.10831T>C (p.Trp3611Arg)
c.13252T>C (p.Trp4418Arg)
c.13234T>C (p.Trp4412Arg)
c.13210T>C (p.Trp4404Arg)
c.13138T>C (p.Trp4380Arg)
c.13102T>C (p.Trp4368Arg)
c.9955T>C (p.Trp3319Arg)
c.9559T>C (p.Trp3187Arg)
7g.152148858A>TCA370093294KMT2Cc.1257T>A
n.2201T>A
c.13240T>A (p.Trp4414Arg)
n.2369T>A
n.8261T>A
c.3642T>A
c.10579T>A (p.Trp3527Arg)
n.4699T>A
c.3714T>A
n.1835T>A
n.1785T>A
c.1486T>A (p.Trp496Arg)
c.7966T>A (p.Trp2656Arg)
c.13069T>A (p.Trp4357Arg)
c.8856T>A
c.3711T>A
c.3645T>A
n.7780T>A
c.7969T>A (p.Trp2657Arg)
c.12634T>A (p.Trp4212Arg)
c.3646T>A
n.2084T>A
c.5750T>A
c.2920T>A (p.Trp974Arg)
n.10951T>A
c.*10589T>A (n.*10589T>A)
c.13285T>A (p.Trp4429Arg)
c.13282T>A (p.Trp4428Arg)
c.13120T>A (p.Trp4374Arg)
c.13213T>A (p.Trp4405Arg)
c.13117T>A (p.Trp4373Arg)
c.13237T>A (p.Trp4413Arg)
c.13165T>A (p.Trp4389Arg)
c.13132T>A (p.Trp4378Arg)
c.13048T>A (p.Trp4350Arg)
c.12370T>A (p.Trp4124Arg)
c.10831T>A (p.Trp3611Arg)
c.13252T>A (p.Trp4418Arg)
c.13234T>A (p.Trp4412Arg)
c.13210T>A (p.Trp4404Arg)
c.13138T>A (p.Trp4380Arg)
c.13102T>A (p.Trp4368Arg)
c.9955T>A (p.Trp3319Arg)
c.9559T>A (p.Trp3187Arg)
7g.152148859T>ACA370093297KMT2Cc.1256A>T
n.2200A>T
c.13239A>T (p.Lys4413Asn)
n.2368A>T
n.8260A>T
c.3641A>T
c.10578A>T (p.Lys3526Asn)
n.4698A>T
c.3713A>T
n.1834A>T
n.1784A>T
c.1485A>T (p.Lys495Asn)
c.7965A>T (p.Lys2655Asn)
c.13068A>T (p.Lys4356Asn)
c.8855A>T
c.3710A>T
c.3644A>T
n.7779A>T
c.7968A>T (p.Lys2656Asn)
c.12633A>T (p.Lys4211Asn)
c.3645A>T
n.2083A>T
c.5749A>T
c.2919A>T (p.Lys973Asn)
n.10950A>T
c.*10588A>T (n.*10588A>T)
c.13284A>T (p.Lys4428Asn)
c.13281A>T (p.Lys4427Asn)
c.13119A>T (p.Lys4373Asn)
c.13212A>T (p.Lys4404Asn)
c.13116A>T (p.Lys4372Asn)
c.13236A>T (p.Lys4412Asn)
c.13164A>T (p.Lys4388Asn)
c.13131A>T (p.Lys4377Asn)
c.13047A>T (p.Lys4349Asn)
c.12369A>T (p.Lys4123Asn)
c.10830A>T (p.Lys3610Asn)
c.13251A>T (p.Lys4417Asn)
c.13233A>T (p.Lys4411Asn)
c.13209A>T (p.Lys4403Asn)
c.13137A>T (p.Lys4379Asn)
c.13101A>T (p.Lys4367Asn)
c.9954A>T (p.Lys3318Asn)
c.9558A>T (p.Lys3186Asn)
7g.152148859T>CCA458884887KMT2Cc.1256A>G
n.2200A>G
c.13239A>G (p.Lys4413=)
n.2368A>G
n.8260A>G
c.3641A>G
c.10578A>G (p.Lys3526=)
n.4698A>G
c.3713A>G
n.1834A>G
n.1784A>G
c.1485A>G (p.Lys495=)
c.7965A>G (p.Lys2655=)
c.13068A>G (p.Lys4356=)
c.8855A>G
c.3710A>G
c.3644A>G
n.7779A>G
c.7968A>G (p.Lys2656=)
c.12633A>G (p.Lys4211=)
c.3645A>G
n.2083A>G
c.5749A>G
c.2919A>G (p.Lys973=)
n.10950A>G
c.*10588A>G (n.*10588A>G)
c.13284A>G (p.Lys4428=)
c.13281A>G (p.Lys4427=)
c.13119A>G (p.Lys4373=)
c.13212A>G (p.Lys4404=)
c.13116A>G (p.Lys4372=)
c.13236A>G (p.Lys4412=)
c.13164A>G (p.Lys4388=)
c.13131A>G (p.Lys4377=)
c.13047A>G (p.Lys4349=)
c.12369A>G (p.Lys4123=)
c.10830A>G (p.Lys3610=)
c.13251A>G (p.Lys4417=)
c.13233A>G (p.Lys4411=)
c.13209A>G (p.Lys4403=)
c.13137A>G (p.Lys4379=)
c.13101A>G (p.Lys4367=)
c.9954A>G (p.Lys3318=)
c.9558A>G (p.Lys3186=)
dbSNP gnomAD v2 gnomAD v4
7g.152148859T>GCA370093298KMT2Cc.1256A>C
n.2200A>C
c.13239A>C (p.Lys4413Asn)
n.2368A>C
n.8260A>C
c.3641A>C
c.10578A>C (p.Lys3526Asn)
n.4698A>C
c.3713A>C
n.1834A>C
n.1784A>C
c.1485A>C (p.Lys495Asn)
c.7965A>C (p.Lys2655Asn)
c.13068A>C (p.Lys4356Asn)
c.8855A>C
c.3710A>C
c.3644A>C
n.7779A>C
c.7968A>C (p.Lys2656Asn)
c.12633A>C (p.Lys4211Asn)
c.3645A>C
n.2083A>C
c.5749A>C
c.2919A>C (p.Lys973Asn)
n.10950A>C
c.*10588A>C (n.*10588A>C)
c.13284A>C (p.Lys4428Asn)
c.13281A>C (p.Lys4427Asn)
c.13119A>C (p.Lys4373Asn)
c.13212A>C (p.Lys4404Asn)
c.13116A>C (p.Lys4372Asn)
c.13236A>C (p.Lys4412Asn)
c.13164A>C (p.Lys4388Asn)
c.13131A>C (p.Lys4377Asn)
c.13047A>C (p.Lys4349Asn)
c.12369A>C (p.Lys4123Asn)
c.10830A>C (p.Lys3610Asn)
c.13251A>C (p.Lys4417Asn)
c.13233A>C (p.Lys4411Asn)
c.13209A>C (p.Lys4403Asn)
c.13137A>C (p.Lys4379Asn)
c.13101A>C (p.Lys4367Asn)
c.9954A>C (p.Lys3318Asn)
c.9558A>C (p.Lys3186Asn)
7g.152148859T=CA1752986454KMT2Cc.1256A=
n.2200A=
c.13239A= (p.Lys4413=)
n.2368A=
n.8260A=
c.3641A=
c.10578A= (p.Lys3526=)
n.4698A=
c.3713A=
n.1834A=
n.1784A=
c.1485A= (p.Lys495=)
c.7965A= (p.Lys2655=)
c.13068A= (p.Lys4356=)
c.8855A=
c.3710A=
c.3644A=
n.7779A=
c.7968A= (p.Lys2656=)
c.12633A= (p.Lys4211=)
c.3645A=
n.2083A=
c.5749A=
c.2919A= (p.Lys973=)
n.10950A=
c.*10588A= (n.*10588A=)
c.13284A= (p.Lys4428=)
c.13281A= (p.Lys4427=)
c.13119A= (p.Lys4373=)
c.13212A= (p.Lys4404=)
c.13116A= (p.Lys4372=)
c.13236A= (p.Lys4412=)
c.13164A= (p.Lys4388=)
c.13131A= (p.Lys4377=)
c.13047A= (p.Lys4349=)
c.12369A= (p.Lys4123=)
c.10830A= (p.Lys3610=)
c.13251A= (p.Lys4417=)
c.13233A= (p.Lys4411=)
c.13209A= (p.Lys4403=)
c.13137A= (p.Lys4379=)
c.13101A= (p.Lys4367=)
c.9954A= (p.Lys3318=)
c.9558A= (p.Lys3186=)
7g.152148860T>ACA370093300KMT2Cc.1255A>T
n.2199A>T
c.13238A>T (p.Lys4413Ile)
n.2367A>T
n.8259A>T
c.3640A>T
c.10577A>T (p.Lys3526Ile)
n.4697A>T
c.3712A>T
n.1833A>T
n.1783A>T
c.1484A>T (p.Lys495Ile)
c.7964A>T (p.Lys2655Ile)
c.13067A>T (p.Lys4356Ile)
c.8854A>T
c.3709A>T
c.3643A>T
n.7778A>T
c.7967A>T (p.Lys2656Ile)
c.12632A>T (p.Lys4211Ile)
c.3644A>T
n.2082A>T
c.5748A>T
c.2918A>T (p.Lys973Ile)
n.10949A>T
c.*10587A>T (n.*10587A>T)
c.13283A>T (p.Lys4428Ile)
c.13280A>T (p.Lys4427Ile)
c.13118A>T (p.Lys4373Ile)
c.13211A>T (p.Lys4404Ile)
c.13115A>T (p.Lys4372Ile)
c.13235A>T (p.Lys4412Ile)
c.13163A>T (p.Lys4388Ile)
c.13130A>T (p.Lys4377Ile)
c.13046A>T (p.Lys4349Ile)
c.12368A>T (p.Lys4123Ile)
c.10829A>T (p.Lys3610Ile)
c.13250A>T (p.Lys4417Ile)
c.13232A>T (p.Lys4411Ile)
c.13208A>T (p.Lys4403Ile)
c.13136A>T (p.Lys4379Ile)
c.13100A>T (p.Lys4367Ile)
c.9953A>T (p.Lys3318Ile)
c.9557A>T (p.Lys3186Ile)
7g.152148860T>CCA370093301KMT2Cc.1255A>G
n.2199A>G
c.13238A>G (p.Lys4413Arg)
n.2367A>G
n.8259A>G
c.3640A>G
c.10577A>G (p.Lys3526Arg)
n.4697A>G
c.3712A>G
n.1833A>G
n.1783A>G
c.1484A>G (p.Lys495Arg)
c.7964A>G (p.Lys2655Arg)
c.13067A>G (p.Lys4356Arg)
c.8854A>G
c.3709A>G
c.3643A>G
n.7778A>G
c.7967A>G (p.Lys2656Arg)
c.12632A>G (p.Lys4211Arg)
c.3644A>G
n.2082A>G
c.5748A>G
c.2918A>G (p.Lys973Arg)
n.10949A>G
c.*10587A>G (n.*10587A>G)
c.13283A>G (p.Lys4428Arg)
c.13280A>G (p.Lys4427Arg)
c.13118A>G (p.Lys4373Arg)
c.13211A>G (p.Lys4404Arg)
c.13115A>G (p.Lys4372Arg)
c.13235A>G (p.Lys4412Arg)
c.13163A>G (p.Lys4388Arg)
c.13130A>G (p.Lys4377Arg)
c.13046A>G (p.Lys4349Arg)
c.12368A>G (p.Lys4123Arg)
c.10829A>G (p.Lys3610Arg)
c.13250A>G (p.Lys4417Arg)
c.13232A>G (p.Lys4411Arg)
c.13208A>G (p.Lys4403Arg)
c.13136A>G (p.Lys4379Arg)
c.13100A>G (p.Lys4367Arg)
c.9953A>G (p.Lys3318Arg)
c.9557A>G (p.Lys3186Arg)
7g.152148860T>GCA370093302KMT2Cc.1255A>C
n.2199A>C
c.13238A>C (p.Lys4413Thr)
n.2367A>C
n.8259A>C
c.3640A>C
c.10577A>C (p.Lys3526Thr)
n.4697A>C
c.3712A>C
n.1833A>C
n.1783A>C
c.1484A>C (p.Lys495Thr)
c.7964A>C (p.Lys2655Thr)
c.13067A>C (p.Lys4356Thr)
c.8854A>C
c.3709A>C
c.3643A>C
n.7778A>C
c.7967A>C (p.Lys2656Thr)
c.12632A>C (p.Lys4211Thr)
c.3644A>C
n.2082A>C
c.5748A>C
c.2918A>C (p.Lys973Thr)
n.10949A>C
c.*10587A>C (n.*10587A>C)
c.13283A>C (p.Lys4428Thr)
c.13280A>C (p.Lys4427Thr)
c.13118A>C (p.Lys4373Thr)
c.13211A>C (p.Lys4404Thr)
c.13115A>C (p.Lys4372Thr)
c.13235A>C (p.Lys4412Thr)
c.13163A>C (p.Lys4388Thr)
c.13130A>C (p.Lys4377Thr)
c.13046A>C (p.Lys4349Thr)
c.12368A>C (p.Lys4123Thr)
c.10829A>C (p.Lys3610Thr)
c.13250A>C (p.Lys4417Thr)
c.13232A>C (p.Lys4411Thr)
c.13208A>C (p.Lys4403Thr)
c.13136A>C (p.Lys4379Thr)
c.13100A>C (p.Lys4367Thr)
c.9953A>C (p.Lys3318Thr)
c.9557A>C (p.Lys3186Thr)
7g.152148861T>ACA370093304KMT2Cc.1254A>T
n.2198A>T
c.13237A>T (p.Lys4413Ter)
n.2366A>T
n.8258A>T
c.3639A>T
c.10576A>T (p.Lys3526Ter)
n.4696A>T
c.3711A>T
n.1832A>T
n.1782A>T
c.1483A>T (p.Lys495Ter)
c.7963A>T (p.Lys2655Ter)
c.13066A>T (p.Lys4356Ter)
c.8853A>T
c.3708A>T
c.3642A>T
n.7777A>T
c.7966A>T (p.Lys2656Ter)
c.12631A>T (p.Lys4211Ter)
c.3643A>T
n.2081A>T
c.5747A>T
c.2917A>T (p.Lys973Ter)
n.10948A>T
c.*10586A>T (n.*10586A>T)
c.13282A>T (p.Lys4428Ter)
c.13279A>T (p.Lys4427Ter)
c.13117A>T (p.Lys4373Ter)
c.13210A>T (p.Lys4404Ter)
c.13114A>T (p.Lys4372Ter)
c.13234A>T (p.Lys4412Ter)
c.13162A>T (p.Lys4388Ter)
c.13129A>T (p.Lys4377Ter)
c.13045A>T (p.Lys4349Ter)
c.12367A>T (p.Lys4123Ter)
c.10828A>T (p.Lys3610Ter)
c.13249A>T (p.Lys4417Ter)
c.13231A>T (p.Lys4411Ter)
c.13207A>T (p.Lys4403Ter)
c.13135A>T (p.Lys4379Ter)
c.13099A>T (p.Lys4367Ter)
c.9952A>T (p.Lys3318Ter)
c.9556A>T (p.Lys3186Ter)
dbSNP
7g.152148861T>CCA370093306KMT2Cc.1254A>G
n.2198A>G
c.13237A>G (p.Lys4413Glu)
n.2366A>G
n.8258A>G
c.3639A>G
c.10576A>G (p.Lys3526Glu)
n.4696A>G
c.3711A>G
n.1832A>G
n.1782A>G
c.1483A>G (p.Lys495Glu)
c.7963A>G (p.Lys2655Glu)
c.13066A>G (p.Lys4356Glu)
c.8853A>G
c.3708A>G
c.3642A>G
n.7777A>G
c.7966A>G (p.Lys2656Glu)
c.12631A>G (p.Lys4211Glu)
c.3643A>G
n.2081A>G
c.5747A>G
c.2917A>G (p.Lys973Glu)
n.10948A>G
c.*10586A>G (n.*10586A>G)
c.13282A>G (p.Lys4428Glu)
c.13279A>G (p.Lys4427Glu)
c.13117A>G (p.Lys4373Glu)
c.13210A>G (p.Lys4404Glu)
c.13114A>G (p.Lys4372Glu)
c.13234A>G (p.Lys4412Glu)
c.13162A>G (p.Lys4388Glu)
c.13129A>G (p.Lys4377Glu)
c.13045A>G (p.Lys4349Glu)
c.12367A>G (p.Lys4123Glu)
c.10828A>G (p.Lys3610Glu)
c.13249A>G (p.Lys4417Glu)
c.13231A>G (p.Lys4411Glu)
c.13207A>G (p.Lys4403Glu)
c.13135A>G (p.Lys4379Glu)
c.13099A>G (p.Lys4367Glu)
c.9952A>G (p.Lys3318Glu)
c.9556A>G (p.Lys3186Glu)
7g.152148861T>GCA370093307KMT2Cc.1254A>C
n.2198A>C
c.13237A>C (p.Lys4413Gln)
n.2366A>C
n.8258A>C
c.3639A>C
c.10576A>C (p.Lys3526Gln)
n.4696A>C
c.3711A>C
n.1832A>C
n.1782A>C
c.1483A>C (p.Lys495Gln)
c.7963A>C (p.Lys2655Gln)
c.13066A>C (p.Lys4356Gln)
c.8853A>C
c.3708A>C
c.3642A>C
n.7777A>C
c.7966A>C (p.Lys2656Gln)
c.12631A>C (p.Lys4211Gln)
c.3643A>C
n.2081A>C
c.5747A>C
c.2917A>C (p.Lys973Gln)
n.10948A>C
c.*10586A>C (n.*10586A>C)
c.13282A>C (p.Lys4428Gln)
c.13279A>C (p.Lys4427Gln)
c.13117A>C (p.Lys4373Gln)
c.13210A>C (p.Lys4404Gln)
c.13114A>C (p.Lys4372Gln)
c.13234A>C (p.Lys4412Gln)
c.13162A>C (p.Lys4388Gln)
c.13129A>C (p.Lys4377Gln)
c.13045A>C (p.Lys4349Gln)
c.12367A>C (p.Lys4123Gln)
c.10828A>C (p.Lys3610Gln)
c.13249A>C (p.Lys4417Gln)
c.13231A>C (p.Lys4411Gln)
c.13207A>C (p.Lys4403Gln)
c.13135A>C (p.Lys4379Gln)
c.13099A>C (p.Lys4367Gln)
c.9952A>C (p.Lys3318Gln)
c.9556A>C (p.Lys3186Gln)
7g.152148862C>ACA370093309KMT2Cc.1253G>T
n.2197G>T
c.13236G>T (p.Met4412Ile)
n.2365G>T
n.8257G>T
c.3638G>T
c.10575G>T (p.Met3525Ile)
n.4695G>T
c.3710G>T
n.1831G>T
n.1781G>T
c.1482G>T (p.Met494Ile)
c.7962G>T (p.Met2654Ile)
c.13065G>T (p.Met4355Ile)
c.8852G>T
c.3707G>T
c.3641G>T
n.7776G>T
c.7965G>T (p.Met2655Ile)
c.12630G>T (p.Met4210Ile)
c.3642G>T
n.2080G>T
c.5746G>T
c.2916G>T (p.Met972Ile)
n.10947G>T
c.*10585G>T (n.*10585G>T)
c.13281G>T (p.Met4427Ile)
c.13278G>T (p.Met4426Ile)
c.13116G>T (p.Met4372Ile)
c.13209G>T (p.Met4403Ile)
c.13113G>T (p.Met4371Ile)
c.13233G>T (p.Met4411Ile)
c.13161G>T (p.Met4387Ile)
c.13128G>T (p.Met4376Ile)
c.13044G>T (p.Met4348Ile)
c.12366G>T (p.Met4122Ile)
c.10827G>T (p.Met3609Ile)
c.13248G>T (p.Met4416Ile)
c.13230G>T (p.Met4410Ile)
c.13206G>T (p.Met4402Ile)
c.13134G>T (p.Met4378Ile)
c.13098G>T (p.Met4366Ile)
c.9951G>T (p.Met3317Ile)
c.9555G>T (p.Met3185Ile)
gnomAD v4
7g.152148862C>GCA370093311KMT2Cc.1253G>C
n.2197G>C
c.13236G>C (p.Met4412Ile)
n.2365G>C
n.8257G>C
c.3638G>C
c.10575G>C (p.Met3525Ile)
n.4695G>C
c.3710G>C
n.1831G>C
n.1781G>C
c.1482G>C (p.Met494Ile)
c.7962G>C (p.Met2654Ile)
c.13065G>C (p.Met4355Ile)
c.8852G>C
c.3707G>C
c.3641G>C
n.7776G>C
c.7965G>C (p.Met2655Ile)
c.12630G>C (p.Met4210Ile)
c.3642G>C
n.2080G>C
c.5746G>C
c.2916G>C (p.Met972Ile)
n.10947G>C
c.*10585G>C (n.*10585G>C)
c.13281G>C (p.Met4427Ile)
c.13278G>C (p.Met4426Ile)
c.13116G>C (p.Met4372Ile)
c.13209G>C (p.Met4403Ile)
c.13113G>C (p.Met4371Ile)
c.13233G>C (p.Met4411Ile)
c.13161G>C (p.Met4387Ile)
c.13128G>C (p.Met4376Ile)
c.13044G>C (p.Met4348Ile)
c.12366G>C (p.Met4122Ile)
c.10827G>C (p.Met3609Ile)
c.13248G>C (p.Met4416Ile)
c.13230G>C (p.Met4410Ile)
c.13206G>C (p.Met4402Ile)
c.13134G>C (p.Met4378Ile)
c.13098G>C (p.Met4366Ile)
c.9951G>C (p.Met3317Ile)
c.9555G>C (p.Met3185Ile)
7g.152148862C>TCA370093312KMT2Cc.1253G>A
n.2197G>A
c.13236G>A (p.Met4412Ile)
n.2365G>A
n.8257G>A
c.3638G>A
c.10575G>A (p.Met3525Ile)
n.4695G>A
c.3710G>A
n.1831G>A
n.1781G>A
c.1482G>A (p.Met494Ile)
c.7962G>A (p.Met2654Ile)
c.13065G>A (p.Met4355Ile)
c.8852G>A
c.3707G>A
c.3641G>A
n.7776G>A
c.7965G>A (p.Met2655Ile)
c.12630G>A (p.Met4210Ile)
c.3642G>A
n.2080G>A
c.5746G>A
c.2916G>A (p.Met972Ile)
n.10947G>A
c.*10585G>A (n.*10585G>A)
c.13281G>A (p.Met4427Ile)
c.13278G>A (p.Met4426Ile)
c.13116G>A (p.Met4372Ile)
c.13209G>A (p.Met4403Ile)
c.13113G>A (p.Met4371Ile)
c.13233G>A (p.Met4411Ile)
c.13161G>A (p.Met4387Ile)
c.13128G>A (p.Met4376Ile)
c.13044G>A (p.Met4348Ile)
c.12366G>A (p.Met4122Ile)
c.10827G>A (p.Met3609Ile)
c.13248G>A (p.Met4416Ile)
c.13230G>A (p.Met4410Ile)
c.13206G>A (p.Met4402Ile)
c.13134G>A (p.Met4378Ile)
c.13098G>A (p.Met4366Ile)
c.9951G>A (p.Met3317Ile)
c.9555G>A (p.Met3185Ile)
7g.152148863A>CCA370093313KMT2Cc.1252T>G
n.2196T>G
c.13235T>G (p.Met4412Arg)
n.2364T>G
n.8256T>G
c.3637T>G
c.10574T>G (p.Met3525Arg)
n.4694T>G
c.3709T>G
n.1830T>G
n.1780T>G
c.1481T>G (p.Met494Arg)
c.7961T>G (p.Met2654Arg)
c.13064T>G (p.Met4355Arg)
c.8851T>G
c.3706T>G
c.3640T>G
n.7775T>G
c.7964T>G (p.Met2655Arg)
c.12629T>G (p.Met4210Arg)
c.3641T>G
n.2079T>G
c.5745T>G
c.2915T>G (p.Met972Arg)
n.10946T>G
c.*10584T>G (n.*10584T>G)
c.13280T>G (p.Met4427Arg)
c.13277T>G (p.Met4426Arg)
c.13115T>G (p.Met4372Arg)
c.13208T>G (p.Met4403Arg)
c.13112T>G (p.Met4371Arg)
c.13232T>G (p.Met4411Arg)
c.13160T>G (p.Met4387Arg)
c.13127T>G (p.Met4376Arg)
c.13043T>G (p.Met4348Arg)
c.12365T>G (p.Met4122Arg)
c.10826T>G (p.Met3609Arg)
c.13247T>G (p.Met4416Arg)
c.13229T>G (p.Met4410Arg)
c.13205T>G (p.Met4402Arg)
c.13133T>G (p.Met4378Arg)
c.13097T>G (p.Met4366Arg)
c.9950T>G (p.Met3317Arg)
c.9554T>G (p.Met3185Arg)
7g.152148863A>GCA370093315KMT2Cc.1252T>C
n.2196T>C
c.13235T>C (p.Met4412Thr)
n.2364T>C
n.8256T>C
c.3637T>C
c.10574T>C (p.Met3525Thr)
n.4694T>C
c.3709T>C
n.1830T>C
n.1780T>C
c.1481T>C (p.Met494Thr)
c.7961T>C (p.Met2654Thr)
c.13064T>C (p.Met4355Thr)
c.8851T>C
c.3706T>C
c.3640T>C
n.7775T>C
c.7964T>C (p.Met2655Thr)
c.12629T>C (p.Met4210Thr)
c.3641T>C
n.2079T>C
c.5745T>C
c.2915T>C (p.Met972Thr)
n.10946T>C
c.*10584T>C (n.*10584T>C)
c.13280T>C (p.Met4427Thr)
c.13277T>C (p.Met4426Thr)
c.13115T>C (p.Met4372Thr)
c.13208T>C (p.Met4403Thr)
c.13112T>C (p.Met4371Thr)
c.13232T>C (p.Met4411Thr)
c.13160T>C (p.Met4387Thr)
c.13127T>C (p.Met4376Thr)
c.13043T>C (p.Met4348Thr)
c.12365T>C (p.Met4122Thr)
c.10826T>C (p.Met3609Thr)
c.13247T>C (p.Met4416Thr)
c.13229T>C (p.Met4410Thr)
c.13205T>C (p.Met4402Thr)
c.13133T>C (p.Met4378Thr)
c.13097T>C (p.Met4366Thr)
c.9950T>C (p.Met3317Thr)
c.9554T>C (p.Met3185Thr)
7g.152148863A>TCA370093314KMT2Cc.1252T>A
n.2196T>A
c.13235T>A (p.Met4412Lys)
n.2364T>A
n.8256T>A
c.3637T>A
c.10574T>A (p.Met3525Lys)
n.4694T>A
c.3709T>A
n.1830T>A
n.1780T>A
c.1481T>A (p.Met494Lys)
c.7961T>A (p.Met2654Lys)
c.13064T>A (p.Met4355Lys)
c.8851T>A
c.3706T>A
c.3640T>A
n.7775T>A
c.7964T>A (p.Met2655Lys)
c.12629T>A (p.Met4210Lys)
c.3641T>A
n.2079T>A
c.5745T>A
c.2915T>A (p.Met972Lys)
n.10946T>A
c.*10584T>A (n.*10584T>A)
c.13280T>A (p.Met4427Lys)
c.13277T>A (p.Met4426Lys)
c.13115T>A (p.Met4372Lys)
c.13208T>A (p.Met4403Lys)
c.13112T>A (p.Met4371Lys)
c.13232T>A (p.Met4411Lys)
c.13160T>A (p.Met4387Lys)
c.13127T>A (p.Met4376Lys)
c.13043T>A (p.Met4348Lys)
c.12365T>A (p.Met4122Lys)
c.10826T>A (p.Met3609Lys)
c.13247T>A (p.Met4416Lys)
c.13229T>A (p.Met4410Lys)
c.13205T>A (p.Met4402Lys)
c.13133T>A (p.Met4378Lys)
c.13097T>A (p.Met4366Lys)
c.9950T>A (p.Met3317Lys)
c.9554T>A (p.Met3185Lys)
7g.152148864T>ACA370093317KMT2Cc.1251A>T
n.2195A>T
c.13234A>T (p.Met4412Leu)
n.2363A>T
n.8255A>T
c.3636A>T
c.10573A>T (p.Met3525Leu)
n.4693A>T
c.3708A>T
n.1829A>T
n.1779A>T
c.1480A>T (p.Met494Leu)
c.7960A>T (p.Met2654Leu)
c.13063A>T (p.Met4355Leu)
c.8850A>T
c.3705A>T
c.3639A>T
n.7774A>T
c.7963A>T (p.Met2655Leu)
c.12628A>T (p.Met4210Leu)
c.3640A>T
n.2078A>T
c.5744A>T
c.2914A>T (p.Met972Leu)
n.10945A>T
c.*10583A>T (n.*10583A>T)
c.13279A>T (p.Met4427Leu)
c.13276A>T (p.Met4426Leu)
c.13114A>T (p.Met4372Leu)
c.13207A>T (p.Met4403Leu)
c.13111A>T (p.Met4371Leu)
c.13231A>T (p.Met4411Leu)
c.13159A>T (p.Met4387Leu)
c.13126A>T (p.Met4376Leu)
c.13042A>T (p.Met4348Leu)
c.12364A>T (p.Met4122Leu)
c.10825A>T (p.Met3609Leu)
c.13246A>T (p.Met4416Leu)
c.13228A>T (p.Met4410Leu)
c.13204A>T (p.Met4402Leu)
c.13132A>T (p.Met4378Leu)
c.13096A>T (p.Met4366Leu)
c.9949A>T (p.Met3317Leu)
c.9553A>T (p.Met3185Leu)
7g.152148864T>CCA370093320KMT2Cc.1251A>G
n.2195A>G
c.13234A>G (p.Met4412Val)
n.2363A>G
n.8255A>G
c.3636A>G
c.10573A>G (p.Met3525Val)
n.4693A>G
c.3708A>G
n.1829A>G
n.1779A>G
c.1480A>G (p.Met494Val)
c.7960A>G (p.Met2654Val)
c.13063A>G (p.Met4355Val)
c.8850A>G
c.3705A>G
c.3639A>G
n.7774A>G
c.7963A>G (p.Met2655Val)
c.12628A>G (p.Met4210Val)
c.3640A>G
n.2078A>G
c.5744A>G
c.2914A>G (p.Met972Val)
n.10945A>G
c.*10583A>G (n.*10583A>G)
c.13279A>G (p.Met4427Val)
c.13276A>G (p.Met4426Val)
c.13114A>G (p.Met4372Val)
c.13207A>G (p.Met4403Val)
c.13111A>G (p.Met4371Val)
c.13231A>G (p.Met4411Val)
c.13159A>G (p.Met4387Val)
c.13126A>G (p.Met4376Val)
c.13042A>G (p.Met4348Val)
c.12364A>G (p.Met4122Val)
c.10825A>G (p.Met3609Val)
c.13246A>G (p.Met4416Val)
c.13228A>G (p.Met4410Val)
c.13204A>G (p.Met4402Val)
c.13132A>G (p.Met4378Val)
c.13096A>G (p.Met4366Val)
c.9949A>G (p.Met3317Val)
c.9553A>G (p.Met3185Val)
7g.152148864T>GCA370093319KMT2Cc.1251A>C
n.2195A>C
c.13234A>C (p.Met4412Leu)
n.2363A>C
n.8255A>C
c.3636A>C
c.10573A>C (p.Met3525Leu)
n.4693A>C
c.3708A>C
n.1829A>C
n.1779A>C
c.1480A>C (p.Met494Leu)
c.7960A>C (p.Met2654Leu)
c.13063A>C (p.Met4355Leu)
c.8850A>C
c.3705A>C
c.3639A>C
n.7774A>C
c.7963A>C (p.Met2655Leu)
c.12628A>C (p.Met4210Leu)
c.3640A>C
n.2078A>C
c.5744A>C
c.2914A>C (p.Met972Leu)
n.10945A>C
c.*10583A>C (n.*10583A>C)
c.13279A>C (p.Met4427Leu)
c.13276A>C (p.Met4426Leu)
c.13114A>C (p.Met4372Leu)
c.13207A>C (p.Met4403Leu)
c.13111A>C (p.Met4371Leu)
c.13231A>C (p.Met4411Leu)
c.13159A>C (p.Met4387Leu)
c.13126A>C (p.Met4376Leu)
c.13042A>C (p.Met4348Leu)
c.12364A>C (p.Met4122Leu)
c.10825A>C (p.Met3609Leu)
c.13246A>C (p.Met4416Leu)
c.13228A>C (p.Met4410Leu)
c.13204A>C (p.Met4402Leu)
c.13132A>C (p.Met4378Leu)
c.13096A>C (p.Met4366Leu)
c.9949A>C (p.Met3317Leu)
c.9553A>C (p.Met3185Leu)
7g.152148865T>ACA458884901KMT2Cc.1250A>T
n.2194A>T
c.13233A>T (p.Gly4411=)
n.2362A>T
n.8254A>T
c.3635A>T
c.10572A>T (p.Gly3524=)
n.4692A>T
c.3707A>T
n.1828A>T
n.1778A>T
c.1479A>T (p.Gly493=)
c.7959A>T (p.Gly2653=)
c.13062A>T (p.Gly4354=)
c.8849A>T
c.3704A>T
c.3638A>T
n.7773A>T
c.7962A>T (p.Gly2654=)
c.12627A>T (p.Gly4209=)
c.3639A>T
n.2077A>T
c.5743A>T
c.2913A>T (p.Gly971=)
n.10944A>T
c.*10582A>T (n.*10582A>T)
c.13278A>T (p.Gly4426=)
c.13275A>T (p.Gly4425=)
c.13113A>T (p.Gly4371=)
c.13206A>T (p.Gly4402=)
c.13110A>T (p.Gly4370=)
c.13230A>T (p.Gly4410=)
c.13158A>T (p.Gly4386=)
c.13125A>T (p.Gly4375=)
c.13041A>T (p.Gly4347=)
c.12363A>T (p.Gly4121=)
c.10824A>T (p.Gly3608=)
c.13245A>T (p.Gly4415=)
c.13227A>T (p.Gly4409=)
c.13203A>T (p.Gly4401=)
c.13131A>T (p.Gly4377=)
c.13095A>T (p.Gly4365=)
c.9948A>T (p.Gly3316=)
c.9552A>T (p.Gly3184=)
7g.152148865T>CCA458884900KMT2Cc.1250A>G
n.2194A>G
c.13233A>G (p.Gly4411=)
n.2362A>G
n.8254A>G
c.3635A>G
c.10572A>G (p.Gly3524=)
n.4692A>G
c.3707A>G
n.1828A>G
n.1778A>G
c.1479A>G (p.Gly493=)
c.7959A>G (p.Gly2653=)
c.13062A>G (p.Gly4354=)
c.8849A>G
c.3704A>G
c.3638A>G
n.7773A>G
c.7962A>G (p.Gly2654=)
c.12627A>G (p.Gly4209=)
c.3639A>G
n.2077A>G
c.5743A>G
c.2913A>G (p.Gly971=)
n.10944A>G
c.*10582A>G (n.*10582A>G)
c.13278A>G (p.Gly4426=)
c.13275A>G (p.Gly4425=)
c.13113A>G (p.Gly4371=)
c.13206A>G (p.Gly4402=)
c.13110A>G (p.Gly4370=)
c.13230A>G (p.Gly4410=)
c.13158A>G (p.Gly4386=)
c.13125A>G (p.Gly4375=)
c.13041A>G (p.Gly4347=)
c.12363A>G (p.Gly4121=)
c.10824A>G (p.Gly3608=)
c.13245A>G (p.Gly4415=)
c.13227A>G (p.Gly4409=)
c.13203A>G (p.Gly4401=)
c.13131A>G (p.Gly4377=)
c.13095A>G (p.Gly4365=)
c.9948A>G (p.Gly3316=)
c.9552A>G (p.Gly3184=)
dbSNP gnomAD v2 gnomAD v4
7g.152148865T>GCA458884902KMT2Cc.1250A>C
n.2194A>C
c.13233A>C (p.Gly4411=)
n.2362A>C
n.8254A>C
c.3635A>C
c.10572A>C (p.Gly3524=)
n.4692A>C
c.3707A>C
n.1828A>C
n.1778A>C
c.1479A>C (p.Gly493=)
c.7959A>C (p.Gly2653=)
c.13062A>C (p.Gly4354=)
c.8849A>C
c.3704A>C
c.3638A>C
n.7773A>C
c.7962A>C (p.Gly2654=)
c.12627A>C (p.Gly4209=)
c.3639A>C
n.2077A>C
c.5743A>C
c.2913A>C (p.Gly971=)
n.10944A>C
c.*10582A>C (n.*10582A>C)
c.13278A>C (p.Gly4426=)
c.13275A>C (p.Gly4425=)
c.13113A>C (p.Gly4371=)
c.13206A>C (p.Gly4402=)
c.13110A>C (p.Gly4370=)
c.13230A>C (p.Gly4410=)
c.13158A>C (p.Gly4386=)
c.13125A>C (p.Gly4375=)
c.13041A>C (p.Gly4347=)
c.12363A>C (p.Gly4121=)
c.10824A>C (p.Gly3608=)
c.13245A>C (p.Gly4415=)
c.13227A>C (p.Gly4409=)
c.13203A>C (p.Gly4401=)
c.13131A>C (p.Gly4377=)
c.13095A>C (p.Gly4365=)
c.9948A>C (p.Gly3316=)
c.9552A>C (p.Gly3184=)
7g.152148865T=CA1752986458KMT2Cc.1250A=
n.2194A=
c.13233A= (p.Gly4411=)
n.2362A=
n.8254A=
c.3635A=
c.10572A= (p.Gly3524=)
n.4692A=
c.3707A=
n.1828A=
n.1778A=
c.1479A= (p.Gly493=)
c.7959A= (p.Gly2653=)
c.13062A= (p.Gly4354=)
c.8849A=
c.3704A=
c.3638A=
n.7773A=
c.7962A= (p.Gly2654=)
c.12627A= (p.Gly4209=)
c.3639A=
n.2077A=
c.5743A=
c.2913A= (p.Gly971=)
n.10944A=
c.*10582A= (n.*10582A=)
c.13278A= (p.Gly4426=)
c.13275A= (p.Gly4425=)
c.13113A= (p.Gly4371=)
c.13206A= (p.Gly4402=)
c.13110A= (p.Gly4370=)
c.13230A= (p.Gly4410=)
c.13158A= (p.Gly4386=)
c.13125A= (p.Gly4375=)
c.13041A= (p.Gly4347=)
c.12363A= (p.Gly4121=)
c.10824A= (p.Gly3608=)
c.13245A= (p.Gly4415=)
c.13227A= (p.Gly4409=)
c.13203A= (p.Gly4401=)
c.13131A= (p.Gly4377=)
c.13095A= (p.Gly4365=)
c.9948A= (p.Gly3316=)
c.9552A= (p.Gly3184=)
7g.152148866C>ACA370093322KMT2Cc.1249G>T
n.2193G>T
c.13232G>T (p.Gly4411Val)
n.2361G>T
n.8253G>T
c.3634G>T
c.10571G>T (p.Gly3524Val)
n.4691G>T
c.3706G>T
n.1827G>T
n.1777G>T
c.1478G>T (p.Gly493Val)
c.7958G>T (p.Gly2653Val)
c.13061G>T (p.Gly4354Val)
c.8848G>T
c.3703G>T
c.3637G>T
n.7772G>T
c.7961G>T (p.Gly2654Val)
c.12626G>T (p.Gly4209Val)
c.3638G>T
n.2076G>T
c.5742G>T
c.2912G>T (p.Gly971Val)
n.10943G>T
c.*10581G>T (n.*10581G>T)
c.13277G>T (p.Gly4426Val)
c.13274G>T (p.Gly4425Val)
c.13112G>T (p.Gly4371Val)
c.13205G>T (p.Gly4402Val)
c.13109G>T (p.Gly4370Val)
c.13229G>T (p.Gly4410Val)
c.13157G>T (p.Gly4386Val)
c.13124G>T (p.Gly4375Val)
c.13040G>T (p.Gly4347Val)
c.12362G>T (p.Gly4121Val)
c.10823G>T (p.Gly3608Val)
c.13244G>T (p.Gly4415Val)
c.13226G>T (p.Gly4409Val)
c.13202G>T (p.Gly4401Val)
c.13130G>T (p.Gly4377Val)
c.13094G>T (p.Gly4365Val)
c.9947G>T (p.Gly3316Val)
c.9551G>T (p.Gly3184Val)
7g.152148866C=CA1752986463KMT2Cc.1249G=
n.2193G=
c.13232G= (p.Gly4411=)
n.2361G=
n.8253G=
c.3634G=
c.10571G= (p.Gly3524=)
n.4691G=
c.3706G=
n.1827G=
n.1777G=
c.1478G= (p.Gly493=)
c.7958G= (p.Gly2653=)
c.13061G= (p.Gly4354=)
c.8848G=
c.3703G=
c.3637G=
n.7772G=
c.7961G= (p.Gly2654=)
c.12626G= (p.Gly4209=)
c.3638G=
n.2076G=
c.5742G=
c.2912G= (p.Gly971=)
n.10943G=
c.*10581G= (n.*10581G=)
c.13277G= (p.Gly4426=)
c.13274G= (p.Gly4425=)
c.13112G= (p.Gly4371=)
c.13205G= (p.Gly4402=)
c.13109G= (p.Gly4370=)
c.13229G= (p.Gly4410=)
c.13157G= (p.Gly4386=)
c.13124G= (p.Gly4375=)
c.13040G= (p.Gly4347=)
c.12362G= (p.Gly4121=)
c.10823G= (p.Gly3608=)
c.13244G= (p.Gly4415=)
c.13226G= (p.Gly4409=)
c.13202G= (p.Gly4401=)
c.13130G= (p.Gly4377=)
c.13094G= (p.Gly4365=)
c.9947G= (p.Gly3316=)
c.9551G= (p.Gly3184=)
7g.152148866C>GCA370093323KMT2Cc.1249G>C
n.2193G>C
c.13232G>C (p.Gly4411Ala)
n.2361G>C
n.8253G>C
c.3634G>C
c.10571G>C (p.Gly3524Ala)
n.4691G>C
c.3706G>C
n.1827G>C
n.1777G>C
c.1478G>C (p.Gly493Ala)
c.7958G>C (p.Gly2653Ala)
c.13061G>C (p.Gly4354Ala)
c.8848G>C
c.3703G>C
c.3637G>C
n.7772G>C
c.7961G>C (p.Gly2654Ala)
c.12626G>C (p.Gly4209Ala)
c.3638G>C
n.2076G>C
c.5742G>C
c.2912G>C (p.Gly971Ala)
n.10943G>C
c.*10581G>C (n.*10581G>C)
c.13277G>C (p.Gly4426Ala)
c.13274G>C (p.Gly4425Ala)
c.13112G>C (p.Gly4371Ala)
c.13205G>C (p.Gly4402Ala)
c.13109G>C (p.Gly4370Ala)
c.13229G>C (p.Gly4410Ala)
c.13157G>C (p.Gly4386Ala)
c.13124G>C (p.Gly4375Ala)
c.13040G>C (p.Gly4347Ala)
c.12362G>C (p.Gly4121Ala)
c.10823G>C (p.Gly3608Ala)
c.13244G>C (p.Gly4415Ala)
c.13226G>C (p.Gly4409Ala)
c.13202G>C (p.Gly4401Ala)
c.13130G>C (p.Gly4377Ala)
c.13094G>C (p.Gly4365Ala)
c.9947G>C (p.Gly3316Ala)
c.9551G>C (p.Gly3184Ala)
7g.152148866C>TCA4578675KMT2Cc.1249G>A
n.2193G>A
c.13232G>A (p.Gly4411Glu)
n.2361G>A
n.8253G>A
c.3634G>A
c.10571G>A (p.Gly3524Glu)
n.4691G>A
c.3706G>A
n.1827G>A
n.1777G>A
c.1478G>A (p.Gly493Glu)
c.7958G>A (p.Gly2653Glu)
c.13061G>A (p.Gly4354Glu)
c.8848G>A
c.3703G>A
c.3637G>A
n.7772G>A
c.7961G>A (p.Gly2654Glu)
c.12626G>A (p.Gly4209Glu)
c.3638G>A
n.2076G>A
c.5742G>A
c.2912G>A (p.Gly971Glu)
n.10943G>A
c.*10581G>A (n.*10581G>A)
c.13277G>A (p.Gly4426Glu)
c.13274G>A (p.Gly4425Glu)
c.13112G>A (p.Gly4371Glu)
c.13205G>A (p.Gly4402Glu)
c.13109G>A (p.Gly4370Glu)
c.13229G>A (p.Gly4410Glu)
c.13157G>A (p.Gly4386Glu)
c.13124G>A (p.Gly4375Glu)
c.13040G>A (p.Gly4347Glu)
c.12362G>A (p.Gly4121Glu)
c.10823G>A (p.Gly3608Glu)
c.13244G>A (p.Gly4415Glu)
c.13226G>A (p.Gly4409Glu)
c.13202G>A (p.Gly4401Glu)
c.13130G>A (p.Gly4377Glu)
c.13094G>A (p.Gly4365Glu)
c.9947G>A (p.Gly3316Glu)
c.9551G>A (p.Gly3184Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148867C>ACA370093326KMT2Cc.1248G>T
n.2192G>T
c.13231G>T (p.Gly4411Ter)
n.2360G>T
n.8252G>T
c.3633G>T
c.10570G>T (p.Gly3524Ter)
n.4690G>T
c.3705G>T
n.1826G>T
n.1776G>T
c.1477G>T (p.Gly493Ter)
c.7957G>T (p.Gly2653Ter)
c.13060G>T (p.Gly4354Ter)
c.8847G>T
c.3702G>T
c.3636G>T
n.7771G>T
c.7960G>T (p.Gly2654Ter)
c.12625G>T (p.Gly4209Ter)
c.3637G>T
n.2075G>T
c.5741G>T
c.2911G>T (p.Gly971Ter)
n.10942G>T
c.*10580G>T (n.*10580G>T)
c.13276G>T (p.Gly4426Ter)
c.13273G>T (p.Gly4425Ter)
c.13111G>T (p.Gly4371Ter)
c.13204G>T (p.Gly4402Ter)
c.13108G>T (p.Gly4370Ter)
c.13228G>T (p.Gly4410Ter)
c.13156G>T (p.Gly4386Ter)
c.13123G>T (p.Gly4375Ter)
c.13039G>T (p.Gly4347Ter)
c.12361G>T (p.Gly4121Ter)
c.10822G>T (p.Gly3608Ter)
c.13243G>T (p.Gly4415Ter)
c.13225G>T (p.Gly4409Ter)
c.13201G>T (p.Gly4401Ter)
c.13129G>T (p.Gly4377Ter)
c.13093G>T (p.Gly4365Ter)
c.9946G>T (p.Gly3316Ter)
c.9550G>T (p.Gly3184Ter)
7g.152148867C>GCA370093327KMT2Cc.1248G>C
n.2192G>C
c.13231G>C (p.Gly4411Arg)
n.2360G>C
n.8252G>C
c.3633G>C
c.10570G>C (p.Gly3524Arg)
n.4690G>C
c.3705G>C
n.1826G>C
n.1776G>C
c.1477G>C (p.Gly493Arg)
c.7957G>C (p.Gly2653Arg)
c.13060G>C (p.Gly4354Arg)
c.8847G>C
c.3702G>C
c.3636G>C
n.7771G>C
c.7960G>C (p.Gly2654Arg)
c.12625G>C (p.Gly4209Arg)
c.3637G>C
n.2075G>C
c.5741G>C
c.2911G>C (p.Gly971Arg)
n.10942G>C
c.*10580G>C (n.*10580G>C)
c.13276G>C (p.Gly4426Arg)
c.13273G>C (p.Gly4425Arg)
c.13111G>C (p.Gly4371Arg)
c.13204G>C (p.Gly4402Arg)
c.13108G>C (p.Gly4370Arg)
c.13228G>C (p.Gly4410Arg)
c.13156G>C (p.Gly4386Arg)
c.13123G>C (p.Gly4375Arg)
c.13039G>C (p.Gly4347Arg)
c.12361G>C (p.Gly4121Arg)
c.10822G>C (p.Gly3608Arg)
c.13243G>C (p.Gly4415Arg)
c.13225G>C (p.Gly4409Arg)
c.13201G>C (p.Gly4401Arg)
c.13129G>C (p.Gly4377Arg)
c.13093G>C (p.Gly4365Arg)
c.9946G>C (p.Gly3316Arg)
c.9550G>C (p.Gly3184Arg)
7g.152148867C>TCA370093328KMT2Cc.1248G>A
n.2192G>A
c.13231G>A (p.Gly4411Arg)
n.2360G>A
n.8252G>A
c.3633G>A
c.10570G>A (p.Gly3524Arg)
n.4690G>A
c.3705G>A
n.1826G>A
n.1776G>A
c.1477G>A (p.Gly493Arg)
c.7957G>A (p.Gly2653Arg)
c.13060G>A (p.Gly4354Arg)
c.8847G>A
c.3702G>A
c.3636G>A
n.7771G>A
c.7960G>A (p.Gly2654Arg)
c.12625G>A (p.Gly4209Arg)
c.3637G>A
n.2075G>A
c.5741G>A
c.2911G>A (p.Gly971Arg)
n.10942G>A
c.*10580G>A (n.*10580G>A)
c.13276G>A (p.Gly4426Arg)
c.13273G>A (p.Gly4425Arg)
c.13111G>A (p.Gly4371Arg)
c.13204G>A (p.Gly4402Arg)
c.13108G>A (p.Gly4370Arg)
c.13228G>A (p.Gly4410Arg)
c.13156G>A (p.Gly4386Arg)
c.13123G>A (p.Gly4375Arg)
c.13039G>A (p.Gly4347Arg)
c.12361G>A (p.Gly4121Arg)
c.10822G>A (p.Gly3608Arg)
c.13243G>A (p.Gly4415Arg)
c.13225G>A (p.Gly4409Arg)
c.13201G>A (p.Gly4401Arg)
c.13129G>A (p.Gly4377Arg)
c.13093G>A (p.Gly4365Arg)
c.9946G>A (p.Gly3316Arg)
c.9550G>A (p.Gly3184Arg)
dbSNP gnomAD v4
7g.152148870_152148871delCA2685721884KMT2Cc.1247_1248del
n.2191_2192del
c.13230_13231del (p.Gly4411AsnfsTer14)
n.2359_2360del
n.8251_8252del
c.3632_3633del
c.10569_10570del (p.Gly3524AsnfsTer14)
n.4689_4690del
c.3704_3705del
n.1825_1826del
n.1775_1776del
c.1476_1477del (p.Gly493AsnfsTer14)
c.7956_7957del (p.Gly2653AsnfsTer14)
c.13059_13060del (p.Gly4354AsnfsTer14)
c.8846_8847del
c.3701_3702del
c.3635_3636del
n.7770_7771del
c.7959_7960del (p.Gly2654AsnfsTer14)
c.12624_12625del (p.Gly4209AsnfsTer14)
c.3636_3637del
n.2074_2075del
c.5740_5741del
c.2910_2911del (p.Gly971AsnfsTer14)
n.10941_10942del
c.*10579_*10580del (n.*10579_*10580del)
c.13275_13276del (p.Gly4426AsnfsTer14)
c.13272_13273del (p.Gly4425AsnfsTer14)
c.13110_13111del (p.Gly4371AsnfsTer14)
c.13203_13204del (p.Gly4402AsnfsTer14)
c.13107_13108del (p.Gly4370AsnfsTer14)
c.13227_13228del (p.Gly4410AsnfsTer14)
c.13155_13156del (p.Gly4386AsnfsTer14)
c.13122_13123del (p.Gly4375AsnfsTer14)
c.13038_13039del (p.Gly4347AsnfsTer14)
c.12360_12361del (p.Gly4121AsnfsTer14)
c.10821_10822del (p.Gly3608AsnfsTer14)
c.13242_13243del (p.Gly4415AsnfsTer14)
c.13224_13225del (p.Gly4409AsnfsTer14)
c.13200_13201del (p.Gly4401AsnfsTer14)
c.13128_13129del (p.Gly4377AsnfsTer14)
c.13092_13093del (p.Gly4365AsnfsTer14)
c.9945_9946del (p.Gly3316AsnfsTer14)
c.9549_9550del (p.Gly3184AsnfsTer14)
gnomAD v4
7g.152148868T>ACA370093330KMT2Cc.1247A>T
n.2191A>T
c.13230A>T (p.Arg4410Ser)
n.2359A>T
n.8251A>T
c.3632A>T
c.10569A>T (p.Arg3523Ser)
n.4689A>T
c.3704A>T
n.1825A>T
n.1775A>T
c.1476A>T (p.Arg492Ser)
c.7956A>T (p.Arg2652Ser)
c.13059A>T (p.Arg4353Ser)
c.8846A>T
c.3701A>T
c.3635A>T
n.7770A>T
c.7959A>T (p.Arg2653Ser)
c.12624A>T (p.Arg4208Ser)
c.3636A>T
n.2074A>T
c.5740A>T
c.2910A>T (p.Arg970Ser)
n.10941A>T
c.*10579A>T (n.*10579A>T)
c.13275A>T (p.Arg4425Ser)
c.13272A>T (p.Arg4424Ser)
c.13110A>T (p.Arg4370Ser)
c.13203A>T (p.Arg4401Ser)
c.13107A>T (p.Arg4369Ser)
c.13227A>T (p.Arg4409Ser)
c.13155A>T (p.Arg4385Ser)
c.13122A>T (p.Arg4374Ser)
c.13038A>T (p.Arg4346Ser)
c.12360A>T (p.Arg4120Ser)
c.10821A>T (p.Arg3607Ser)
c.13242A>T (p.Arg4414Ser)
c.13224A>T (p.Arg4408Ser)
c.13200A>T (p.Arg4400Ser)
c.13128A>T (p.Arg4376Ser)
c.13092A>T (p.Arg4364Ser)
c.9945A>T (p.Arg3315Ser)
c.9549A>T (p.Arg3183Ser)
7g.152148868T>CCA458884909KMT2Cc.1247A>G
n.2191A>G
c.13230A>G (p.Arg4410=)
n.2359A>G
n.8251A>G
c.3632A>G
c.10569A>G (p.Arg3523=)
n.4689A>G
c.3704A>G
n.1825A>G
n.1775A>G
c.1476A>G (p.Arg492=)
c.7956A>G (p.Arg2652=)
c.13059A>G (p.Arg4353=)
c.8846A>G
c.3701A>G
c.3635A>G
n.7770A>G
c.7959A>G (p.Arg2653=)
c.12624A>G (p.Arg4208=)
c.3636A>G
n.2074A>G
c.5740A>G
c.2910A>G (p.Arg970=)
n.10941A>G
c.*10579A>G (n.*10579A>G)
c.13275A>G (p.Arg4425=)
c.13272A>G (p.Arg4424=)
c.13110A>G (p.Arg4370=)
c.13203A>G (p.Arg4401=)
c.13107A>G (p.Arg4369=)
c.13227A>G (p.Arg4409=)
c.13155A>G (p.Arg4385=)
c.13122A>G (p.Arg4374=)
c.13038A>G (p.Arg4346=)
c.12360A>G (p.Arg4120=)
c.10821A>G (p.Arg3607=)
c.13242A>G (p.Arg4414=)
c.13224A>G (p.Arg4408=)
c.13200A>G (p.Arg4400=)
c.13128A>G (p.Arg4376=)
c.13092A>G (p.Arg4364=)
c.9945A>G (p.Arg3315=)
c.9549A>G (p.Arg3183=)
gnomAD v4
7g.152148868T>GCA370093332KMT2Cc.1247A>C
n.2191A>C
c.13230A>C (p.Arg4410Ser)
n.2359A>C
n.8251A>C
c.3632A>C
c.10569A>C (p.Arg3523Ser)
n.4689A>C
c.3704A>C
n.1825A>C
n.1775A>C
c.1476A>C (p.Arg492Ser)
c.7956A>C (p.Arg2652Ser)
c.13059A>C (p.Arg4353Ser)
c.8846A>C
c.3701A>C
c.3635A>C
n.7770A>C
c.7959A>C (p.Arg2653Ser)
c.12624A>C (p.Arg4208Ser)
c.3636A>C
n.2074A>C
c.5740A>C
c.2910A>C (p.Arg970Ser)
n.10941A>C
c.*10579A>C (n.*10579A>C)
c.13275A>C (p.Arg4425Ser)
c.13272A>C (p.Arg4424Ser)
c.13110A>C (p.Arg4370Ser)
c.13203A>C (p.Arg4401Ser)
c.13107A>C (p.Arg4369Ser)
c.13227A>C (p.Arg4409Ser)
c.13155A>C (p.Arg4385Ser)
c.13122A>C (p.Arg4374Ser)
c.13038A>C (p.Arg4346Ser)
c.12360A>C (p.Arg4120Ser)
c.10821A>C (p.Arg3607Ser)
c.13242A>C (p.Arg4414Ser)
c.13224A>C (p.Arg4408Ser)
c.13200A>C (p.Arg4400Ser)
c.13128A>C (p.Arg4376Ser)
c.13092A>C (p.Arg4364Ser)
c.9945A>C (p.Arg3315Ser)
c.9549A>C (p.Arg3183Ser)
COSMIC COSMIC
7g.152148869C>ACA370093334KMT2Cc.1246G>T
n.2190G>T
c.13229G>T (p.Arg4410Ile)
n.2358G>T
n.8250G>T
c.3631G>T
c.10568G>T (p.Arg3523Ile)
n.4688G>T
c.3703G>T
n.1824G>T
n.1774G>T
c.1475G>T (p.Arg492Ile)
c.7955G>T (p.Arg2652Ile)
c.13058G>T (p.Arg4353Ile)
c.8845G>T
c.3700G>T
c.3634G>T
n.7769G>T
c.7958G>T (p.Arg2653Ile)
c.12623G>T (p.Arg4208Ile)
c.3635G>T
n.2073G>T
c.5739G>T
c.2909G>T (p.Arg970Ile)
n.10940G>T
c.*10578G>T (n.*10578G>T)
c.13274G>T (p.Arg4425Ile)
c.13271G>T (p.Arg4424Ile)
c.13109G>T (p.Arg4370Ile)
c.13202G>T (p.Arg4401Ile)
c.13106G>T (p.Arg4369Ile)
c.13226G>T (p.Arg4409Ile)
c.13154G>T (p.Arg4385Ile)
c.13121G>T (p.Arg4374Ile)
c.13037G>T (p.Arg4346Ile)
c.12359G>T (p.Arg4120Ile)
c.10820G>T (p.Arg3607Ile)
c.13241G>T (p.Arg4414Ile)
c.13223G>T (p.Arg4408Ile)
c.13199G>T (p.Arg4400Ile)
c.13127G>T (p.Arg4376Ile)
c.13091G>T (p.Arg4364Ile)
c.9944G>T (p.Arg3315Ile)
c.9548G>T (p.Arg3183Ile)
7g.152148869C>GCA370093335KMT2Cc.1246G>C
n.2190G>C
c.13229G>C (p.Arg4410Thr)
n.2358G>C
n.8250G>C
c.3631G>C
c.10568G>C (p.Arg3523Thr)
n.4688G>C
c.3703G>C
n.1824G>C
n.1774G>C
c.1475G>C (p.Arg492Thr)
c.7955G>C (p.Arg2652Thr)
c.13058G>C (p.Arg4353Thr)
c.8845G>C
c.3700G>C
c.3634G>C
n.7769G>C
c.7958G>C (p.Arg2653Thr)
c.12623G>C (p.Arg4208Thr)
c.3635G>C
n.2073G>C
c.5739G>C
c.2909G>C (p.Arg970Thr)
n.10940G>C
c.*10578G>C (n.*10578G>C)
c.13274G>C (p.Arg4425Thr)
c.13271G>C (p.Arg4424Thr)
c.13109G>C (p.Arg4370Thr)
c.13202G>C (p.Arg4401Thr)
c.13106G>C (p.Arg4369Thr)
c.13226G>C (p.Arg4409Thr)
c.13154G>C (p.Arg4385Thr)
c.13121G>C (p.Arg4374Thr)
c.13037G>C (p.Arg4346Thr)
c.12359G>C (p.Arg4120Thr)
c.10820G>C (p.Arg3607Thr)
c.13241G>C (p.Arg4414Thr)
c.13223G>C (p.Arg4408Thr)
c.13199G>C (p.Arg4400Thr)
c.13127G>C (p.Arg4376Thr)
c.13091G>C (p.Arg4364Thr)
c.9944G>C (p.Arg3315Thr)
c.9548G>C (p.Arg3183Thr)
7g.152148869C>TCA370093336KMT2Cc.1246G>A
n.2190G>A
c.13229G>A (p.Arg4410Lys)
n.2358G>A
n.8250G>A
c.3631G>A
c.10568G>A (p.Arg3523Lys)
n.4688G>A
c.3703G>A
n.1824G>A
n.1774G>A
c.1475G>A (p.Arg492Lys)
c.7955G>A (p.Arg2652Lys)
c.13058G>A (p.Arg4353Lys)
c.8845G>A
c.3700G>A
c.3634G>A
n.7769G>A
c.7958G>A (p.Arg2653Lys)
c.12623G>A (p.Arg4208Lys)
c.3635G>A
n.2073G>A
c.5739G>A
c.2909G>A (p.Arg970Lys)
n.10940G>A
c.*10578G>A (n.*10578G>A)
c.13274G>A (p.Arg4425Lys)
c.13271G>A (p.Arg4424Lys)
c.13109G>A (p.Arg4370Lys)
c.13202G>A (p.Arg4401Lys)
c.13106G>A (p.Arg4369Lys)
c.13226G>A (p.Arg4409Lys)
c.13154G>A (p.Arg4385Lys)
c.13121G>A (p.Arg4374Lys)
c.13037G>A (p.Arg4346Lys)
c.12359G>A (p.Arg4120Lys)
c.10820G>A (p.Arg3607Lys)
c.13241G>A (p.Arg4414Lys)
c.13223G>A (p.Arg4408Lys)
c.13199G>A (p.Arg4400Lys)
c.13127G>A (p.Arg4376Lys)
c.13091G>A (p.Arg4364Lys)
c.9944G>A (p.Arg3315Lys)
c.9548G>A (p.Arg3183Lys)
gnomAD v4
7g.152148870T>ACA370093338KMT2Cc.1245A>T
n.2189A>T
c.13228A>T (p.Arg4410Ter)
n.2357A>T
n.8249A>T
c.3630A>T
c.10567A>T (p.Arg3523Ter)
n.4687A>T
c.3702A>T
n.1823A>T
n.1773A>T
c.1474A>T (p.Arg492Ter)
c.7954A>T (p.Arg2652Ter)
c.13057A>T (p.Arg4353Ter)
c.8844A>T
c.3699A>T
c.3633A>T
n.7768A>T
c.7957A>T (p.Arg2653Ter)
c.12622A>T (p.Arg4208Ter)
c.3634A>T
n.2072A>T
c.5738A>T
c.2908A>T (p.Arg970Ter)
n.10939A>T
c.*10577A>T (n.*10577A>T)
c.13273A>T (p.Arg4425Ter)
c.13270A>T (p.Arg4424Ter)
c.13108A>T (p.Arg4370Ter)
c.13201A>T (p.Arg4401Ter)
c.13105A>T (p.Arg4369Ter)
c.13225A>T (p.Arg4409Ter)
c.13153A>T (p.Arg4385Ter)
c.13120A>T (p.Arg4374Ter)
c.13036A>T (p.Arg4346Ter)
c.12358A>T (p.Arg4120Ter)
c.10819A>T (p.Arg3607Ter)
c.13240A>T (p.Arg4414Ter)
c.13222A>T (p.Arg4408Ter)
c.13198A>T (p.Arg4400Ter)
c.13126A>T (p.Arg4376Ter)
c.13090A>T (p.Arg4364Ter)
c.9943A>T (p.Arg3315Ter)
c.9547A>T (p.Arg3183Ter)
7g.152148870T>CCA370093339KMT2Cc.1245A>G
n.2189A>G
c.13228A>G (p.Arg4410Gly)
n.2357A>G
n.8249A>G
c.3630A>G
c.10567A>G (p.Arg3523Gly)
n.4687A>G
c.3702A>G
n.1823A>G
n.1773A>G
c.1474A>G (p.Arg492Gly)
c.7954A>G (p.Arg2652Gly)
c.13057A>G (p.Arg4353Gly)
c.8844A>G
c.3699A>G
c.3633A>G
n.7768A>G
c.7957A>G (p.Arg2653Gly)
c.12622A>G (p.Arg4208Gly)
c.3634A>G
n.2072A>G
c.5738A>G
c.2908A>G (p.Arg970Gly)
n.10939A>G
c.*10577A>G (n.*10577A>G)
c.13273A>G (p.Arg4425Gly)
c.13270A>G (p.Arg4424Gly)
c.13108A>G (p.Arg4370Gly)
c.13201A>G (p.Arg4401Gly)
c.13105A>G (p.Arg4369Gly)
c.13225A>G (p.Arg4409Gly)
c.13153A>G (p.Arg4385Gly)
c.13120A>G (p.Arg4374Gly)
c.13036A>G (p.Arg4346Gly)
c.12358A>G (p.Arg4120Gly)
c.10819A>G (p.Arg3607Gly)
c.13240A>G (p.Arg4414Gly)
c.13222A>G (p.Arg4408Gly)
c.13198A>G (p.Arg4400Gly)
c.13126A>G (p.Arg4376Gly)
c.13090A>G (p.Arg4364Gly)
c.9943A>G (p.Arg3315Gly)
c.9547A>G (p.Arg3183Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.152148870T>GCA458884922KMT2Cc.1245A>C
n.2189A>C
c.13228A>C (p.Arg4410=)
n.2357A>C
n.8249A>C
c.3630A>C
c.10567A>C (p.Arg3523=)
n.4687A>C
c.3702A>C
n.1823A>C
n.1773A>C
c.1474A>C (p.Arg492=)
c.7954A>C (p.Arg2652=)
c.13057A>C (p.Arg4353=)
c.8844A>C
c.3699A>C
c.3633A>C
n.7768A>C
c.7957A>C (p.Arg2653=)
c.12622A>C (p.Arg4208=)
c.3634A>C
n.2072A>C
c.5738A>C
c.2908A>C (p.Arg970=)
n.10939A>C
c.*10577A>C (n.*10577A>C)
c.13273A>C (p.Arg4425=)
c.13270A>C (p.Arg4424=)
c.13108A>C (p.Arg4370=)
c.13201A>C (p.Arg4401=)
c.13105A>C (p.Arg4369=)
c.13225A>C (p.Arg4409=)
c.13153A>C (p.Arg4385=)
c.13120A>C (p.Arg4374=)
c.13036A>C (p.Arg4346=)
c.12358A>C (p.Arg4120=)
c.10819A>C (p.Arg3607=)
c.13240A>C (p.Arg4414=)
c.13222A>C (p.Arg4408=)
c.13198A>C (p.Arg4400=)
c.13126A>C (p.Arg4376=)
c.13090A>C (p.Arg4364=)
c.9943A>C (p.Arg3315=)
c.9547A>C (p.Arg3183=)
7g.152148870T=CA1752986467KMT2Cc.1245A=
n.2189A=
c.13228A= (p.Arg4410=)
n.2357A=
n.8249A=
c.3630A=
c.10567A= (p.Arg3523=)
n.4687A=
c.3702A=
n.1823A=
n.1773A=
c.1474A= (p.Arg492=)
c.7954A= (p.Arg2652=)
c.13057A= (p.Arg4353=)
c.8844A=
c.3699A=
c.3633A=
n.7768A=
c.7957A= (p.Arg2653=)
c.12622A= (p.Arg4208=)
c.3634A=
n.2072A=
c.5738A=
c.2908A= (p.Arg970=)
n.10939A=
c.*10577A= (n.*10577A=)
c.13273A= (p.Arg4425=)
c.13270A= (p.Arg4424=)
c.13108A= (p.Arg4370=)
c.13201A= (p.Arg4401=)
c.13105A= (p.Arg4369=)
c.13225A= (p.Arg4409=)
c.13153A= (p.Arg4385=)
c.13120A= (p.Arg4374=)
c.13036A= (p.Arg4346=)
c.12358A= (p.Arg4120=)
c.10819A= (p.Arg3607=)
c.13240A= (p.Arg4414=)
c.13222A= (p.Arg4408=)
c.13198A= (p.Arg4400=)
c.13126A= (p.Arg4376=)
c.13090A= (p.Arg4364=)
c.9943A= (p.Arg3315=)
c.9547A= (p.Arg3183=)
7g.152148871C>ACA370093341KMT2Cc.1244G>T
n.2188G>T
c.13227G>T (p.Trp4409Cys)
n.2356G>T
n.8248G>T
c.3629G>T
c.10566G>T (p.Trp3522Cys)
n.4686G>T
c.3701G>T
n.1822G>T
n.1772G>T
c.1473G>T (p.Trp491Cys)
c.7953G>T (p.Trp2651Cys)
c.13056G>T (p.Trp4352Cys)
c.8843G>T
c.3698G>T
c.3632G>T
n.7767G>T
c.7956G>T (p.Trp2652Cys)
c.12621G>T (p.Trp4207Cys)
c.3633G>T
n.2071G>T
c.5737G>T
c.2907G>T (p.Trp969Cys)
n.10938G>T
c.*10576G>T (n.*10576G>T)
c.13272G>T (p.Trp4424Cys)
c.13269G>T (p.Trp4423Cys)
c.13107G>T (p.Trp4369Cys)
c.13200G>T (p.Trp4400Cys)
c.13104G>T (p.Trp4368Cys)
c.13224G>T (p.Trp4408Cys)
c.13152G>T (p.Trp4384Cys)
c.13119G>T (p.Trp4373Cys)
c.13035G>T (p.Trp4345Cys)
c.12357G>T (p.Trp4119Cys)
c.10818G>T (p.Trp3606Cys)
c.13239G>T (p.Trp4413Cys)
c.13221G>T (p.Trp4407Cys)
c.13197G>T (p.Trp4399Cys)
c.13125G>T (p.Trp4375Cys)
c.13089G>T (p.Trp4363Cys)
c.9942G>T (p.Trp3314Cys)
c.9546G>T (p.Trp3182Cys)
7g.152148871C>GCA370093344KMT2Cc.1244G>C
n.2188G>C
c.13227G>C (p.Trp4409Cys)
n.2356G>C
n.8248G>C
c.3629G>C
c.10566G>C (p.Trp3522Cys)
n.4686G>C
c.3701G>C
n.1822G>C
n.1772G>C
c.1473G>C (p.Trp491Cys)
c.7953G>C (p.Trp2651Cys)
c.13056G>C (p.Trp4352Cys)
c.8843G>C
c.3698G>C
c.3632G>C
n.7767G>C
c.7956G>C (p.Trp2652Cys)
c.12621G>C (p.Trp4207Cys)
c.3633G>C
n.2071G>C
c.5737G>C
c.2907G>C (p.Trp969Cys)
n.10938G>C
c.*10576G>C (n.*10576G>C)
c.13272G>C (p.Trp4424Cys)
c.13269G>C (p.Trp4423Cys)
c.13107G>C (p.Trp4369Cys)
c.13200G>C (p.Trp4400Cys)
c.13104G>C (p.Trp4368Cys)
c.13224G>C (p.Trp4408Cys)
c.13152G>C (p.Trp4384Cys)
c.13119G>C (p.Trp4373Cys)
c.13035G>C (p.Trp4345Cys)
c.12357G>C (p.Trp4119Cys)
c.10818G>C (p.Trp3606Cys)
c.13239G>C (p.Trp4413Cys)
c.13221G>C (p.Trp4407Cys)
c.13197G>C (p.Trp4399Cys)
c.13125G>C (p.Trp4375Cys)
c.13089G>C (p.Trp4363Cys)
c.9942G>C (p.Trp3314Cys)
c.9546G>C (p.Trp3182Cys)
dbSNP
7g.152148871C>TCA370093343KMT2Cc.1244G>A
n.2188G>A
c.13227G>A (p.Trp4409Ter)
n.2356G>A
n.8248G>A
c.3629G>A
c.10566G>A (p.Trp3522Ter)
n.4686G>A
c.3701G>A
n.1822G>A
n.1772G>A
c.1473G>A (p.Trp491Ter)
c.7953G>A (p.Trp2651Ter)
c.13056G>A (p.Trp4352Ter)
c.8843G>A
c.3698G>A
c.3632G>A
n.7767G>A
c.7956G>A (p.Trp2652Ter)
c.12621G>A (p.Trp4207Ter)
c.3633G>A
n.2071G>A
c.5737G>A
c.2907G>A (p.Trp969Ter)
n.10938G>A
c.*10576G>A (n.*10576G>A)
c.13272G>A (p.Trp4424Ter)
c.13269G>A (p.Trp4423Ter)
c.13107G>A (p.Trp4369Ter)
c.13200G>A (p.Trp4400Ter)
c.13104G>A (p.Trp4368Ter)
c.13224G>A (p.Trp4408Ter)
c.13152G>A (p.Trp4384Ter)
c.13119G>A (p.Trp4373Ter)
c.13035G>A (p.Trp4345Ter)
c.12357G>A (p.Trp4119Ter)
c.10818G>A (p.Trp3606Ter)
c.13239G>A (p.Trp4413Ter)
c.13221G>A (p.Trp4407Ter)
c.13197G>A (p.Trp4399Ter)
c.13125G>A (p.Trp4375Ter)
c.13089G>A (p.Trp4363Ter)
c.9942G>A (p.Trp3314Ter)
c.9546G>A (p.Trp3182Ter)
7g.152148872C>ACA4578676KMT2Cc.1243G>T
n.2187G>T
c.13226G>T (p.Trp4409Leu)
n.2355G>T
n.8247G>T
c.3628G>T
c.10565G>T (p.Trp3522Leu)
n.4685G>T
c.3700G>T
n.1821G>T
n.1771G>T
c.1472G>T (p.Trp491Leu)
c.7952G>T (p.Trp2651Leu)
c.13055G>T (p.Trp4352Leu)
c.8842G>T
c.3697G>T
c.3631G>T
n.7766G>T
c.7955G>T (p.Trp2652Leu)
c.12620G>T (p.Trp4207Leu)
c.3632G>T
n.2070G>T
c.5736G>T
c.2906G>T (p.Trp969Leu)
n.10937G>T
c.*10575G>T (n.*10575G>T)
c.13271G>T (p.Trp4424Leu)
c.13268G>T (p.Trp4423Leu)
c.13106G>T (p.Trp4369Leu)
c.13199G>T (p.Trp4400Leu)
c.13103G>T (p.Trp4368Leu)
c.13223G>T (p.Trp4408Leu)
c.13151G>T (p.Trp4384Leu)
c.13118G>T (p.Trp4373Leu)
c.13034G>T (p.Trp4345Leu)
c.12356G>T (p.Trp4119Leu)
c.10817G>T (p.Trp3606Leu)
c.13238G>T (p.Trp4413Leu)
c.13220G>T (p.Trp4407Leu)
c.13196G>T (p.Trp4399Leu)
c.13124G>T (p.Trp4375Leu)
c.13088G>T (p.Trp4363Leu)
c.9941G>T (p.Trp3314Leu)
c.9545G>T (p.Trp3182Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148872C=CA1752986482KMT2Cc.1243G=
n.2187G=
c.13226G= (p.Trp4409=)
n.2355G=
n.8247G=
c.3628G=
c.10565G= (p.Trp3522=)
n.4685G=
c.3700G=
n.1821G=
n.1771G=
c.1472G= (p.Trp491=)
c.7952G= (p.Trp2651=)
c.13055G= (p.Trp4352=)
c.8842G=
c.3697G=
c.3631G=
n.7766G=
c.7955G= (p.Trp2652=)
c.12620G= (p.Trp4207=)
c.3632G=
n.2070G=
c.5736G=
c.2906G= (p.Trp969=)
n.10937G=
c.*10575G= (n.*10575G=)
c.13271G= (p.Trp4424=)
c.13268G= (p.Trp4423=)
c.13106G= (p.Trp4369=)
c.13199G= (p.Trp4400=)
c.13103G= (p.Trp4368=)
c.13223G= (p.Trp4408=)
c.13151G= (p.Trp4384=)
c.13118G= (p.Trp4373=)
c.13034G= (p.Trp4345=)
c.12356G= (p.Trp4119=)
c.10817G= (p.Trp3606=)
c.13238G= (p.Trp4413=)
c.13220G= (p.Trp4407=)
c.13196G= (p.Trp4399=)
c.13124G= (p.Trp4375=)
c.13088G= (p.Trp4363=)
c.9941G= (p.Trp3314=)
c.9545G= (p.Trp3182=)
7g.152148872C>GCA370093346KMT2Cc.1243G>C
n.2187G>C
c.13226G>C (p.Trp4409Ser)
n.2355G>C
n.8247G>C
c.3628G>C
c.10565G>C (p.Trp3522Ser)
n.4685G>C
c.3700G>C
n.1821G>C
n.1771G>C
c.1472G>C (p.Trp491Ser)
c.7952G>C (p.Trp2651Ser)
c.13055G>C (p.Trp4352Ser)
c.8842G>C
c.3697G>C
c.3631G>C
n.7766G>C
c.7955G>C (p.Trp2652Ser)
c.12620G>C (p.Trp4207Ser)
c.3632G>C
n.2070G>C
c.5736G>C
c.2906G>C (p.Trp969Ser)
n.10937G>C
c.*10575G>C (n.*10575G>C)
c.13271G>C (p.Trp4424Ser)
c.13268G>C (p.Trp4423Ser)
c.13106G>C (p.Trp4369Ser)
c.13199G>C (p.Trp4400Ser)
c.13103G>C (p.Trp4368Ser)
c.13223G>C (p.Trp4408Ser)
c.13151G>C (p.Trp4384Ser)
c.13118G>C (p.Trp4373Ser)
c.13034G>C (p.Trp4345Ser)
c.12356G>C (p.Trp4119Ser)
c.10817G>C (p.Trp3606Ser)
c.13238G>C (p.Trp4413Ser)
c.13220G>C (p.Trp4407Ser)
c.13196G>C (p.Trp4399Ser)
c.13124G>C (p.Trp4375Ser)
c.13088G>C (p.Trp4363Ser)
c.9941G>C (p.Trp3314Ser)
c.9545G>C (p.Trp3182Ser)
7g.152148872C>TCA370093348KMT2Cc.1243G>A
n.2187G>A
c.13226G>A (p.Trp4409Ter)
n.2355G>A
n.8247G>A
c.3628G>A
c.10565G>A (p.Trp3522Ter)
n.4685G>A
c.3700G>A
n.1821G>A
n.1771G>A
c.1472G>A (p.Trp491Ter)
c.7952G>A (p.Trp2651Ter)
c.13055G>A (p.Trp4352Ter)
c.8842G>A
c.3697G>A
c.3631G>A
n.7766G>A
c.7955G>A (p.Trp2652Ter)
c.12620G>A (p.Trp4207Ter)
c.3632G>A
n.2070G>A
c.5736G>A
c.2906G>A (p.Trp969Ter)
n.10937G>A
c.*10575G>A (n.*10575G>A)
c.13271G>A (p.Trp4424Ter)
c.13268G>A (p.Trp4423Ter)
c.13106G>A (p.Trp4369Ter)
c.13199G>A (p.Trp4400Ter)
c.13103G>A (p.Trp4368Ter)
c.13223G>A (p.Trp4408Ter)
c.13151G>A (p.Trp4384Ter)
c.13118G>A (p.Trp4373Ter)
c.13034G>A (p.Trp4345Ter)
c.12356G>A (p.Trp4119Ter)
c.10817G>A (p.Trp3606Ter)
c.13238G>A (p.Trp4413Ter)
c.13220G>A (p.Trp4407Ter)
c.13196G>A (p.Trp4399Ter)
c.13124G>A (p.Trp4375Ter)
c.13088G>A (p.Trp4363Ter)
c.9941G>A (p.Trp3314Ter)
c.9545G>A (p.Trp3182Ter)
7g.152148873A=CA1752986485KMT2Cc.1242T=
n.2186T=
c.13225T= (p.Trp4409=)
n.2354T=
n.8246T=
c.3627T=
c.10564T= (p.Trp3522=)
n.4684T=
c.3699T=
n.1820T=
n.1770T=
c.1471T= (p.Trp491=)
c.7951T= (p.Trp2651=)
c.13054T= (p.Trp4352=)
c.8841T=
c.3696T=
c.3630T=
n.7765T=
c.7954T= (p.Trp2652=)
c.12619T= (p.Trp4207=)
c.3631T=
n.2069T=
c.5735T=
c.2905T= (p.Trp969=)
n.10936T=
c.*10574T= (n.*10574T=)
c.13270T= (p.Trp4424=)
c.13267T= (p.Trp4423=)
c.13105T= (p.Trp4369=)
c.13198T= (p.Trp4400=)
c.13102T= (p.Trp4368=)
c.13222T= (p.Trp4408=)
c.13150T= (p.Trp4384=)
c.13117T= (p.Trp4373=)
c.13033T= (p.Trp4345=)
c.12355T= (p.Trp4119=)
c.10816T= (p.Trp3606=)
c.13237T= (p.Trp4413=)
c.13219T= (p.Trp4407=)
c.13195T= (p.Trp4399=)
c.13123T= (p.Trp4375=)
c.13087T= (p.Trp4363=)
c.9940T= (p.Trp3314=)
c.9544T= (p.Trp3182=)
7g.152148873A>CCA4578677KMT2Cc.1242T>G
n.2186T>G
c.13225T>G (p.Trp4409Gly)
n.2354T>G
n.8246T>G
c.3627T>G
c.10564T>G (p.Trp3522Gly)
n.4684T>G
c.3699T>G
n.1820T>G
n.1770T>G
c.1471T>G (p.Trp491Gly)
c.7951T>G (p.Trp2651Gly)
c.13054T>G (p.Trp4352Gly)
c.8841T>G
c.3696T>G
c.3630T>G
n.7765T>G
c.7954T>G (p.Trp2652Gly)
c.12619T>G (p.Trp4207Gly)
c.3631T>G
n.2069T>G
c.5735T>G
c.2905T>G (p.Trp969Gly)
n.10936T>G
c.*10574T>G (n.*10574T>G)
c.13270T>G (p.Trp4424Gly)
c.13267T>G (p.Trp4423Gly)
c.13105T>G (p.Trp4369Gly)
c.13198T>G (p.Trp4400Gly)
c.13102T>G (p.Trp4368Gly)
c.13222T>G (p.Trp4408Gly)
c.13150T>G (p.Trp4384Gly)
c.13117T>G (p.Trp4373Gly)
c.13033T>G (p.Trp4345Gly)
c.12355T>G (p.Trp4119Gly)
c.10816T>G (p.Trp3606Gly)
c.13237T>G (p.Trp4413Gly)
c.13219T>G (p.Trp4407Gly)
c.13195T>G (p.Trp4399Gly)
c.13123T>G (p.Trp4375Gly)
c.13087T>G (p.Trp4363Gly)
c.9940T>G (p.Trp3314Gly)
c.9544T>G (p.Trp3182Gly)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.152148873A>GCA370093350KMT2Cc.1242T>C
n.2186T>C
c.13225T>C (p.Trp4409Arg)
n.2354T>C
n.8246T>C
c.3627T>C
c.10564T>C (p.Trp3522Arg)
n.4684T>C
c.3699T>C
n.1820T>C
n.1770T>C
c.1471T>C (p.Trp491Arg)
c.7951T>C (p.Trp2651Arg)
c.13054T>C (p.Trp4352Arg)
c.8841T>C
c.3696T>C
c.3630T>C
n.7765T>C
c.7954T>C (p.Trp2652Arg)
c.12619T>C (p.Trp4207Arg)
c.3631T>C
n.2069T>C
c.5735T>C
c.2905T>C (p.Trp969Arg)
n.10936T>C
c.*10574T>C (n.*10574T>C)
c.13270T>C (p.Trp4424Arg)
c.13267T>C (p.Trp4423Arg)
c.13105T>C (p.Trp4369Arg)
c.13198T>C (p.Trp4400Arg)
c.13102T>C (p.Trp4368Arg)
c.13222T>C (p.Trp4408Arg)
c.13150T>C (p.Trp4384Arg)
c.13117T>C (p.Trp4373Arg)
c.13033T>C (p.Trp4345Arg)
c.12355T>C (p.Trp4119Arg)
c.10816T>C (p.Trp3606Arg)
c.13237T>C (p.Trp4413Arg)
c.13219T>C (p.Trp4407Arg)
c.13195T>C (p.Trp4399Arg)
c.13123T>C (p.Trp4375Arg)
c.13087T>C (p.Trp4363Arg)
c.9940T>C (p.Trp3314Arg)
c.9544T>C (p.Trp3182Arg)
7g.152148873A>TCA370093352KMT2Cc.1242T>A
n.2186T>A
c.13225T>A (p.Trp4409Arg)
n.2354T>A
n.8246T>A
c.3627T>A
c.10564T>A (p.Trp3522Arg)
n.4684T>A
c.3699T>A
n.1820T>A
n.1770T>A
c.1471T>A (p.Trp491Arg)
c.7951T>A (p.Trp2651Arg)
c.13054T>A (p.Trp4352Arg)
c.8841T>A
c.3696T>A
c.3630T>A
n.7765T>A
c.7954T>A (p.Trp2652Arg)
c.12619T>A (p.Trp4207Arg)
c.3631T>A
n.2069T>A
c.5735T>A
c.2905T>A (p.Trp969Arg)
n.10936T>A
c.*10574T>A (n.*10574T>A)
c.13270T>A (p.Trp4424Arg)
c.13267T>A (p.Trp4423Arg)
c.13105T>A (p.Trp4369Arg)
c.13198T>A (p.Trp4400Arg)
c.13102T>A (p.Trp4368Arg)
c.13222T>A (p.Trp4408Arg)
c.13150T>A (p.Trp4384Arg)
c.13117T>A (p.Trp4373Arg)
c.13033T>A (p.Trp4345Arg)
c.12355T>A (p.Trp4119Arg)
c.10816T>A (p.Trp3606Arg)
c.13237T>A (p.Trp4413Arg)
c.13219T>A (p.Trp4407Arg)
c.13195T>A (p.Trp4399Arg)
c.13123T>A (p.Trp4375Arg)
c.13087T>A (p.Trp4363Arg)
c.9940T>A (p.Trp3314Arg)
c.9544T>A (p.Trp3182Arg)
7g.152148874T>ACA370093353KMT2Cc.1241A>T
n.2185A>T
c.13224A>T (p.Lys4408Asn)
n.2353A>T
n.8245A>T
c.3626A>T
c.10563A>T (p.Lys3521Asn)
n.4683A>T
c.3698A>T
n.1819A>T
n.1769A>T
c.1470A>T (p.Lys490Asn)
c.7950A>T (p.Lys2650Asn)
c.13053A>T (p.Lys4351Asn)
c.8840A>T
c.3695A>T
c.3629A>T
n.7764A>T
c.7953A>T (p.Lys2651Asn)
c.12618A>T (p.Lys4206Asn)
c.3630A>T
n.2068A>T
c.5734A>T
c.2904A>T (p.Lys968Asn)
n.10935A>T
c.*10573A>T (n.*10573A>T)
c.13269A>T (p.Lys4423Asn)
c.13266A>T (p.Lys4422Asn)
c.13104A>T (p.Lys4368Asn)
c.13197A>T (p.Lys4399Asn)
c.13101A>T (p.Lys4367Asn)
c.13221A>T (p.Lys4407Asn)
c.13149A>T (p.Lys4383Asn)
c.13116A>T (p.Lys4372Asn)
c.13032A>T (p.Lys4344Asn)
c.12354A>T (p.Lys4118Asn)
c.10815A>T (p.Lys3605Asn)
c.13236A>T (p.Lys4412Asn)
c.13218A>T (p.Lys4406Asn)
c.13194A>T (p.Lys4398Asn)
c.13122A>T (p.Lys4374Asn)
c.13086A>T (p.Lys4362Asn)
c.9939A>T (p.Lys3313Asn)
c.9543A>T (p.Lys3181Asn)
7g.152148874T>CCA458884931KMT2Cc.1241A>G
n.2185A>G
c.13224A>G (p.Lys4408=)
n.2353A>G
n.8245A>G
c.3626A>G
c.10563A>G (p.Lys3521=)
n.4683A>G
c.3698A>G
n.1819A>G
n.1769A>G
c.1470A>G (p.Lys490=)
c.7950A>G (p.Lys2650=)
c.13053A>G (p.Lys4351=)
c.8840A>G
c.3695A>G
c.3629A>G
n.7764A>G
c.7953A>G (p.Lys2651=)
c.12618A>G (p.Lys4206=)
c.3630A>G
n.2068A>G
c.5734A>G
c.2904A>G (p.Lys968=)
n.10935A>G
c.*10573A>G (n.*10573A>G)
c.13269A>G (p.Lys4423=)
c.13266A>G (p.Lys4422=)
c.13104A>G (p.Lys4368=)
c.13197A>G (p.Lys4399=)
c.13101A>G (p.Lys4367=)
c.13221A>G (p.Lys4407=)
c.13149A>G (p.Lys4383=)
c.13116A>G (p.Lys4372=)
c.13032A>G (p.Lys4344=)
c.12354A>G (p.Lys4118=)
c.10815A>G (p.Lys3605=)
c.13236A>G (p.Lys4412=)
c.13218A>G (p.Lys4406=)
c.13194A>G (p.Lys4398=)
c.13122A>G (p.Lys4374=)
c.13086A>G (p.Lys4362=)
c.9939A>G (p.Lys3313=)
c.9543A>G (p.Lys3181=)
7g.152148874T>GCA370093355KMT2Cc.1241A>C
n.2185A>C
c.13224A>C (p.Lys4408Asn)
n.2353A>C
n.8245A>C
c.3626A>C
c.10563A>C (p.Lys3521Asn)
n.4683A>C
c.3698A>C
n.1819A>C
n.1769A>C
c.1470A>C (p.Lys490Asn)
c.7950A>C (p.Lys2650Asn)
c.13053A>C (p.Lys4351Asn)
c.8840A>C
c.3695A>C
c.3629A>C
n.7764A>C
c.7953A>C (p.Lys2651Asn)
c.12618A>C (p.Lys4206Asn)
c.3630A>C
n.2068A>C
c.5734A>C
c.2904A>C (p.Lys968Asn)
n.10935A>C
c.*10573A>C (n.*10573A>C)
c.13269A>C (p.Lys4423Asn)
c.13266A>C (p.Lys4422Asn)
c.13104A>C (p.Lys4368Asn)
c.13197A>C (p.Lys4399Asn)
c.13101A>C (p.Lys4367Asn)
c.13221A>C (p.Lys4407Asn)
c.13149A>C (p.Lys4383Asn)
c.13116A>C (p.Lys4372Asn)
c.13032A>C (p.Lys4344Asn)
c.12354A>C (p.Lys4118Asn)
c.10815A>C (p.Lys3605Asn)
c.13236A>C (p.Lys4412Asn)
c.13218A>C (p.Lys4406Asn)
c.13194A>C (p.Lys4398Asn)
c.13122A>C (p.Lys4374Asn)
c.13086A>C (p.Lys4362Asn)
c.9939A>C (p.Lys3313Asn)
c.9543A>C (p.Lys3181Asn)
7g.152148879dupCA645565079KMT2Cc.1241dup
n.2185dup
c.13224dup (p.Trp4409MetfsTer17)
n.2353dup
n.8245dup
c.3626dup
c.10563dup (p.Trp3522MetfsTer17)
n.4683dup
c.3698dup
n.1819dup
n.1769dup
c.1470dup (p.Trp491MetfsTer17)
c.7950dup (p.Trp2651MetfsTer17)
c.13053dup (p.Trp4352MetfsTer17)
c.8840dup
c.3695dup
c.3629dup
n.7764dup
c.7953dup (p.Trp2652MetfsTer17)
c.12618dup (p.Trp4207MetfsTer17)
c.3630dup
n.2068dup
c.5734dup
c.2904dup (p.Trp969MetfsTer17)
n.10935dup
c.*10573dup (n.*10573dup)
c.13269dup (p.Trp4424MetfsTer17)
c.13266dup (p.Trp4423MetfsTer17)
c.13104dup (p.Trp4369MetfsTer17)
c.13197dup (p.Trp4400MetfsTer17)
c.13101dup (p.Trp4368MetfsTer17)
c.13221dup (p.Trp4408MetfsTer17)
c.13149dup (p.Trp4384MetfsTer17)
c.13116dup (p.Trp4373MetfsTer17)
c.13032dup (p.Trp4345MetfsTer17)
c.12354dup (p.Trp4119MetfsTer17)
c.10815dup (p.Trp3606MetfsTer17)
c.13236dup (p.Trp4413MetfsTer17)
c.13218dup (p.Trp4407MetfsTer17)
c.13194dup (p.Trp4399MetfsTer17)
c.13122dup (p.Trp4375MetfsTer17)
c.13086dup (p.Trp4363MetfsTer17)
c.9939dup (p.Trp3314MetfsTer17)
c.9543dup (p.Trp3182MetfsTer17)
COSMIC COSMIC COSMIC COSMIC
7g.152148879delCA645565080KMT2Cc.1241del
n.2185del
c.13224del (p.Lys4408AsnfsTer5)
n.2353del
n.8245del
c.3626del
c.10563del (p.Lys3521AsnfsTer5)
n.4683del
c.3698del
n.1819del
n.1769del
c.1470del (p.Lys490AsnfsTer5)
c.7950del (p.Lys2650AsnfsTer5)
c.13053del (p.Lys4351AsnfsTer5)
c.8840del
c.3695del
c.3629del
n.7764del
c.7953del (p.Lys2651AsnfsTer5)
c.12618del (p.Lys4206AsnfsTer5)
c.3630del
n.2068del
c.5734del
c.2904del (p.Lys968AsnfsTer5)
n.10935del
c.*10573del (n.*10573del)
c.13269del (p.Lys4423AsnfsTer5)
c.13266del (p.Lys4422AsnfsTer5)
c.13104del (p.Lys4368AsnfsTer5)
c.13197del (p.Lys4399AsnfsTer5)
c.13101del (p.Lys4367AsnfsTer5)
c.13221del (p.Lys4407AsnfsTer5)
c.13149del (p.Lys4383AsnfsTer5)
c.13116del (p.Lys4372AsnfsTer5)
c.13032del (p.Lys4344AsnfsTer5)
c.12354del (p.Lys4118AsnfsTer5)
c.10815del (p.Lys3605AsnfsTer5)
c.13236del (p.Lys4412AsnfsTer5)
c.13218del (p.Lys4406AsnfsTer5)
c.13194del (p.Lys4398AsnfsTer5)
c.13122del (p.Lys4374AsnfsTer5)
c.13086del (p.Lys4362AsnfsTer5)
c.9939del (p.Lys3313AsnfsTer5)
c.9543del (p.Lys3181AsnfsTer5)
dbSNP COSMIC COSMIC
7g.152148874_152148875insACA458884936KMT2Cc.1240_1241insT
n.2184_2185insT
c.13223_13224insT (p.Lys4408AsnfsTer18)
n.2352_2353insT
n.8244_8245insT
c.3625_3626insT
c.10562_10563insT (p.Lys3521AsnfsTer18)
n.4682_4683insT
c.3697_3698insT
n.1818_1819insT
n.1768_1769insT
c.1469_1470insT (p.Lys490AsnfsTer18)
c.7949_7950insT (p.Lys2650AsnfsTer18)
c.13052_13053insT (p.Lys4351AsnfsTer18)
c.8839_8840insT
c.3694_3695insT
c.3628_3629insT
n.7763_7764insT
c.7952_7953insT (p.Lys2651AsnfsTer18)
c.12617_12618insT (p.Lys4206AsnfsTer18)
c.3629_3630insT
n.2067_2068insT
c.5733_5734insT
c.2903_2904insT (p.Lys968AsnfsTer18)
n.10934_10935insT
c.*10572_*10573insT (n.*10572_*10573insT)
c.13268_13269insT (p.Lys4423AsnfsTer18)
c.13265_13266insT (p.Lys4422AsnfsTer18)
c.13103_13104insT (p.Lys4368AsnfsTer18)
c.13196_13197insT (p.Lys4399AsnfsTer18)
c.13100_13101insT (p.Lys4367AsnfsTer18)
c.13220_13221insT (p.Lys4407AsnfsTer18)
c.13148_13149insT (p.Lys4383AsnfsTer18)
c.13115_13116insT (p.Lys4372AsnfsTer18)
c.13031_13032insT (p.Lys4344AsnfsTer18)
c.12353_12354insT (p.Lys4118AsnfsTer18)
c.10814_10815insT (p.Lys3605AsnfsTer18)
c.13235_13236insT (p.Lys4412AsnfsTer18)
c.13217_13218insT (p.Lys4406AsnfsTer18)
c.13193_13194insT (p.Lys4398AsnfsTer18)
c.13121_13122insT (p.Lys4374AsnfsTer18)
c.13085_13086insT (p.Lys4362AsnfsTer18)
c.9938_9939insT (p.Lys3313AsnfsTer18)
c.9542_9543insT (p.Lys3181AsnfsTer18)
7g.152148875T>ACA370093357KMT2Cc.1240A>T
n.2184A>T
c.13223A>T (p.Lys4408Ile)
n.2352A>T
n.8244A>T
c.3625A>T
c.10562A>T (p.Lys3521Ile)
n.4682A>T
c.3697A>T
n.1818A>T
n.1768A>T
c.1469A>T (p.Lys490Ile)
c.7949A>T (p.Lys2650Ile)
c.13052A>T (p.Lys4351Ile)
c.8839A>T
c.3694A>T
c.3628A>T
n.7763A>T
c.7952A>T (p.Lys2651Ile)
c.12617A>T (p.Lys4206Ile)
c.3629A>T
n.2067A>T
c.5733A>T
c.2903A>T (p.Lys968Ile)
n.10934A>T
c.*10572A>T (n.*10572A>T)
c.13268A>T (p.Lys4423Ile)
c.13265A>T (p.Lys4422Ile)
c.13103A>T (p.Lys4368Ile)
c.13196A>T (p.Lys4399Ile)
c.13100A>T (p.Lys4367Ile)
c.13220A>T (p.Lys4407Ile)
c.13148A>T (p.Lys4383Ile)
c.13115A>T (p.Lys4372Ile)
c.13031A>T (p.Lys4344Ile)
c.12353A>T (p.Lys4118Ile)
c.10814A>T (p.Lys3605Ile)
c.13235A>T (p.Lys4412Ile)
c.13217A>T (p.Lys4406Ile)
c.13193A>T (p.Lys4398Ile)
c.13121A>T (p.Lys4374Ile)
c.13085A>T (p.Lys4362Ile)
c.9938A>T (p.Lys3313Ile)
c.9542A>T (p.Lys3181Ile)
7g.152148875T>CCA370093358KMT2Cc.1240A>G
n.2184A>G
c.13223A>G (p.Lys4408Arg)
n.2352A>G
n.8244A>G
c.3625A>G
c.10562A>G (p.Lys3521Arg)
n.4682A>G
c.3697A>G
n.1818A>G
n.1768A>G
c.1469A>G (p.Lys490Arg)
c.7949A>G (p.Lys2650Arg)
c.13052A>G (p.Lys4351Arg)
c.8839A>G
c.3694A>G
c.3628A>G
n.7763A>G
c.7952A>G (p.Lys2651Arg)
c.12617A>G (p.Lys4206Arg)
c.3629A>G
n.2067A>G
c.5733A>G
c.2903A>G (p.Lys968Arg)
n.10934A>G
c.*10572A>G (n.*10572A>G)
c.13268A>G (p.Lys4423Arg)
c.13265A>G (p.Lys4422Arg)
c.13103A>G (p.Lys4368Arg)
c.13196A>G (p.Lys4399Arg)
c.13100A>G (p.Lys4367Arg)
c.13220A>G (p.Lys4407Arg)
c.13148A>G (p.Lys4383Arg)
c.13115A>G (p.Lys4372Arg)
c.13031A>G (p.Lys4344Arg)
c.12353A>G (p.Lys4118Arg)
c.10814A>G (p.Lys3605Arg)
c.13235A>G (p.Lys4412Arg)
c.13217A>G (p.Lys4406Arg)
c.13193A>G (p.Lys4398Arg)
c.13121A>G (p.Lys4374Arg)
c.13085A>G (p.Lys4362Arg)
c.9938A>G (p.Lys3313Arg)
c.9542A>G (p.Lys3181Arg)
7g.152148875T>GCA370093359KMT2Cc.1240A>C
n.2184A>C
c.13223A>C (p.Lys4408Thr)
n.2352A>C
n.8244A>C
c.3625A>C
c.10562A>C (p.Lys3521Thr)
n.4682A>C
c.3697A>C
n.1818A>C
n.1768A>C
c.1469A>C (p.Lys490Thr)
c.7949A>C (p.Lys2650Thr)
c.13052A>C (p.Lys4351Thr)
c.8839A>C
c.3694A>C
c.3628A>C
n.7763A>C
c.7952A>C (p.Lys2651Thr)
c.12617A>C (p.Lys4206Thr)
c.3629A>C
n.2067A>C
c.5733A>C
c.2903A>C (p.Lys968Thr)
n.10934A>C
c.*10572A>C (n.*10572A>C)
c.13268A>C (p.Lys4423Thr)
c.13265A>C (p.Lys4422Thr)
c.13103A>C (p.Lys4368Thr)
c.13196A>C (p.Lys4399Thr)
c.13100A>C (p.Lys4367Thr)
c.13220A>C (p.Lys4407Thr)
c.13148A>C (p.Lys4383Thr)
c.13115A>C (p.Lys4372Thr)
c.13031A>C (p.Lys4344Thr)
c.12353A>C (p.Lys4118Thr)
c.10814A>C (p.Lys3605Thr)
c.13235A>C (p.Lys4412Thr)
c.13217A>C (p.Lys4406Thr)
c.13193A>C (p.Lys4398Thr)
c.13121A>C (p.Lys4374Thr)
c.13085A>C (p.Lys4362Thr)
c.9938A>C (p.Lys3313Thr)
c.9542A>C (p.Lys3181Thr)
7g.152148876T>ACA370093363KMT2Cc.1239A>T
n.2183A>T
c.13222A>T (p.Lys4408Ter)
n.2351A>T
n.8243A>T
c.3624A>T
c.10561A>T (p.Lys3521Ter)
n.4681A>T
c.3696A>T
n.1817A>T
n.1767A>T
c.1468A>T (p.Lys490Ter)
c.7948A>T (p.Lys2650Ter)
c.13051A>T (p.Lys4351Ter)
c.8838A>T
c.3693A>T
c.3627A>T
n.7762A>T
c.7951A>T (p.Lys2651Ter)
c.12616A>T (p.Lys4206Ter)
c.3628A>T
n.2066A>T
c.5732A>T
c.2902A>T (p.Lys968Ter)
n.10933A>T
c.*10571A>T (n.*10571A>T)
c.13267A>T (p.Lys4423Ter)
c.13264A>T (p.Lys4422Ter)
c.13102A>T (p.Lys4368Ter)
c.13195A>T (p.Lys4399Ter)
c.13099A>T (p.Lys4367Ter)
c.13219A>T (p.Lys4407Ter)
c.13147A>T (p.Lys4383Ter)
c.13114A>T (p.Lys4372Ter)
c.13030A>T (p.Lys4344Ter)
c.12352A>T (p.Lys4118Ter)
c.10813A>T (p.Lys3605Ter)
c.13234A>T (p.Lys4412Ter)
c.13216A>T (p.Lys4406Ter)
c.13192A>T (p.Lys4398Ter)
c.13120A>T (p.Lys4374Ter)
c.13084A>T (p.Lys4362Ter)
c.9937A>T (p.Lys3313Ter)
c.9541A>T (p.Lys3181Ter)
7g.152148876T>CCA370093361KMT2Cc.1239A>G
n.2183A>G
c.13222A>G (p.Lys4408Glu)
n.2351A>G
n.8243A>G
c.3624A>G
c.10561A>G (p.Lys3521Glu)
n.4681A>G
c.3696A>G
n.1817A>G
n.1767A>G
c.1468A>G (p.Lys490Glu)
c.7948A>G (p.Lys2650Glu)
c.13051A>G (p.Lys4351Glu)
c.8838A>G
c.3693A>G
c.3627A>G
n.7762A>G
c.7951A>G (p.Lys2651Glu)
c.12616A>G (p.Lys4206Glu)
c.3628A>G
n.2066A>G
c.5732A>G
c.2902A>G (p.Lys968Glu)
n.10933A>G
c.*10571A>G (n.*10571A>G)
c.13267A>G (p.Lys4423Glu)
c.13264A>G (p.Lys4422Glu)
c.13102A>G (p.Lys4368Glu)
c.13195A>G (p.Lys4399Glu)
c.13099A>G (p.Lys4367Glu)
c.13219A>G (p.Lys4407Glu)
c.13147A>G (p.Lys4383Glu)
c.13114A>G (p.Lys4372Glu)
c.13030A>G (p.Lys4344Glu)
c.12352A>G (p.Lys4118Glu)
c.10813A>G (p.Lys3605Glu)
c.13234A>G (p.Lys4412Glu)
c.13216A>G (p.Lys4406Glu)
c.13192A>G (p.Lys4398Glu)
c.13120A>G (p.Lys4374Glu)
c.13084A>G (p.Lys4362Glu)
c.9937A>G (p.Lys3313Glu)
c.9541A>G (p.Lys3181Glu)
7g.152148876T>GCA370093360KMT2Cc.1239A>C
n.2183A>C
c.13222A>C (p.Lys4408Gln)
n.2351A>C
n.8243A>C
c.3624A>C
c.10561A>C (p.Lys3521Gln)
n.4681A>C
c.3696A>C
n.1817A>C
n.1767A>C
c.1468A>C (p.Lys490Gln)
c.7948A>C (p.Lys2650Gln)
c.13051A>C (p.Lys4351Gln)
c.8838A>C
c.3693A>C
c.3627A>C
n.7762A>C
c.7951A>C (p.Lys2651Gln)
c.12616A>C (p.Lys4206Gln)
c.3628A>C
n.2066A>C
c.5732A>C
c.2902A>C (p.Lys968Gln)
n.10933A>C
c.*10571A>C (n.*10571A>C)
c.13267A>C (p.Lys4423Gln)
c.13264A>C (p.Lys4422Gln)
c.13102A>C (p.Lys4368Gln)
c.13195A>C (p.Lys4399Gln)
c.13099A>C (p.Lys4367Gln)
c.13219A>C (p.Lys4407Gln)
c.13147A>C (p.Lys4383Gln)
c.13114A>C (p.Lys4372Gln)
c.13030A>C (p.Lys4344Gln)
c.12352A>C (p.Lys4118Gln)
c.10813A>C (p.Lys3605Gln)
c.13234A>C (p.Lys4412Gln)
c.13216A>C (p.Lys4406Gln)
c.13192A>C (p.Lys4398Gln)
c.13120A>C (p.Lys4374Gln)
c.13084A>C (p.Lys4362Gln)
c.9937A>C (p.Lys3313Gln)
c.9541A>C (p.Lys3181Gln)
7g.152148877T>ACA370093366KMT2Cc.1238A>T
n.2182A>T
c.13221A>T (p.Lys4407Asn)
n.2350A>T
n.8242A>T
c.3623A>T
c.10560A>T (p.Lys3520Asn)
n.4680A>T
c.3695A>T
n.1816A>T
n.1766A>T
c.1467A>T (p.Lys489Asn)
c.7947A>T (p.Lys2649Asn)
c.13050A>T (p.Lys4350Asn)
c.8837A>T
c.3692A>T
c.3626A>T
n.7761A>T
c.7950A>T (p.Lys2650Asn)
c.12615A>T (p.Lys4205Asn)
c.3627A>T
n.2065A>T
c.5731A>T
c.2901A>T (p.Lys967Asn)
n.10932A>T
c.*10570A>T (n.*10570A>T)
c.13266A>T (p.Lys4422Asn)
c.13263A>T (p.Lys4421Asn)
c.13101A>T (p.Lys4367Asn)
c.13194A>T (p.Lys4398Asn)
c.13098A>T (p.Lys4366Asn)
c.13218A>T (p.Lys4406Asn)
c.13146A>T (p.Lys4382Asn)
c.13113A>T (p.Lys4371Asn)
c.13029A>T (p.Lys4343Asn)
c.12351A>T (p.Lys4117Asn)
c.10812A>T (p.Lys3604Asn)
c.13233A>T (p.Lys4411Asn)
c.13215A>T (p.Lys4405Asn)
c.13191A>T (p.Lys4397Asn)
c.13119A>T (p.Lys4373Asn)
c.13083A>T (p.Lys4361Asn)
c.9936A>T (p.Lys3312Asn)
c.9540A>T (p.Lys3180Asn)
7g.152148877T>CCA458884942KMT2Cc.1238A>G
n.2182A>G
c.13221A>G (p.Lys4407=)
n.2350A>G
n.8242A>G
c.3623A>G
c.10560A>G (p.Lys3520=)
n.4680A>G
c.3695A>G
n.1816A>G
n.1766A>G
c.1467A>G (p.Lys489=)
c.7947A>G (p.Lys2649=)
c.13050A>G (p.Lys4350=)
c.8837A>G
c.3692A>G
c.3626A>G
n.7761A>G
c.7950A>G (p.Lys2650=)
c.12615A>G (p.Lys4205=)
c.3627A>G
n.2065A>G
c.5731A>G
c.2901A>G (p.Lys967=)
n.10932A>G
c.*10570A>G (n.*10570A>G)
c.13266A>G (p.Lys4422=)
c.13263A>G (p.Lys4421=)
c.13101A>G (p.Lys4367=)
c.13194A>G (p.Lys4398=)
c.13098A>G (p.Lys4366=)
c.13218A>G (p.Lys4406=)
c.13146A>G (p.Lys4382=)
c.13113A>G (p.Lys4371=)
c.13029A>G (p.Lys4343=)
c.12351A>G (p.Lys4117=)
c.10812A>G (p.Lys3604=)
c.13233A>G (p.Lys4411=)
c.13215A>G (p.Lys4405=)
c.13191A>G (p.Lys4397=)
c.13119A>G (p.Lys4373=)
c.13083A>G (p.Lys4361=)
c.9936A>G (p.Lys3312=)
c.9540A>G (p.Lys3180=)
7g.152148877T>GCA370093364KMT2Cc.1238A>C
n.2182A>C
c.13221A>C (p.Lys4407Asn)
n.2350A>C
n.8242A>C
c.3623A>C
c.10560A>C (p.Lys3520Asn)
n.4680A>C
c.3695A>C
n.1816A>C
n.1766A>C
c.1467A>C (p.Lys489Asn)
c.7947A>C (p.Lys2649Asn)
c.13050A>C (p.Lys4350Asn)
c.8837A>C
c.3692A>C
c.3626A>C
n.7761A>C
c.7950A>C (p.Lys2650Asn)
c.12615A>C (p.Lys4205Asn)
c.3627A>C
n.2065A>C
c.5731A>C
c.2901A>C (p.Lys967Asn)
n.10932A>C
c.*10570A>C (n.*10570A>C)
c.13266A>C (p.Lys4422Asn)
c.13263A>C (p.Lys4421Asn)
c.13101A>C (p.Lys4367Asn)
c.13194A>C (p.Lys4398Asn)
c.13098A>C (p.Lys4366Asn)
c.13218A>C (p.Lys4406Asn)
c.13146A>C (p.Lys4382Asn)
c.13113A>C (p.Lys4371Asn)
c.13029A>C (p.Lys4343Asn)
c.12351A>C (p.Lys4117Asn)
c.10812A>C (p.Lys3604Asn)
c.13233A>C (p.Lys4411Asn)
c.13215A>C (p.Lys4405Asn)
c.13191A>C (p.Lys4397Asn)
c.13119A>C (p.Lys4373Asn)
c.13083A>C (p.Lys4361Asn)
c.9936A>C (p.Lys3312Asn)
c.9540A>C (p.Lys3180Asn)
7g.152148878T>ACA370093368KMT2Cc.1237A>T
n.2181A>T
c.13220A>T (p.Lys4407Ile)
n.2349A>T
n.8241A>T
c.3622A>T
c.10559A>T (p.Lys3520Ile)
n.4679A>T
c.3694A>T
n.1815A>T
n.1765A>T
c.1466A>T (p.Lys489Ile)
c.7946A>T (p.Lys2649Ile)
c.13049A>T (p.Lys4350Ile)
c.8836A>T
c.3691A>T
c.3625A>T
n.7760A>T
c.7949A>T (p.Lys2650Ile)
c.12614A>T (p.Lys4205Ile)
c.3626A>T
n.2064A>T
c.5730A>T
c.2900A>T (p.Lys967Ile)
n.10931A>T
c.*10569A>T (n.*10569A>T)
c.13265A>T (p.Lys4422Ile)
c.13262A>T (p.Lys4421Ile)
c.13100A>T (p.Lys4367Ile)
c.13193A>T (p.Lys4398Ile)
c.13097A>T (p.Lys4366Ile)
c.13217A>T (p.Lys4406Ile)
c.13145A>T (p.Lys4382Ile)
c.13112A>T (p.Lys4371Ile)
c.13028A>T (p.Lys4343Ile)
c.12350A>T (p.Lys4117Ile)
c.10811A>T (p.Lys3604Ile)
c.13232A>T (p.Lys4411Ile)
c.13214A>T (p.Lys4405Ile)
c.13190A>T (p.Lys4397Ile)
c.13118A>T (p.Lys4373Ile)
c.13082A>T (p.Lys4361Ile)
c.9935A>T (p.Lys3312Ile)
c.9539A>T (p.Lys3180Ile)
7g.152148878T>CCA370093369KMT2Cc.1237A>G
n.2181A>G
c.13220A>G (p.Lys4407Arg)
n.2349A>G
n.8241A>G
c.3622A>G
c.10559A>G (p.Lys3520Arg)
n.4679A>G
c.3694A>G
n.1815A>G
n.1765A>G
c.1466A>G (p.Lys489Arg)
c.7946A>G (p.Lys2649Arg)
c.13049A>G (p.Lys4350Arg)
c.8836A>G
c.3691A>G
c.3625A>G
n.7760A>G
c.7949A>G (p.Lys2650Arg)
c.12614A>G (p.Lys4205Arg)
c.3626A>G
n.2064A>G
c.5730A>G
c.2900A>G (p.Lys967Arg)
n.10931A>G
c.*10569A>G (n.*10569A>G)
c.13265A>G (p.Lys4422Arg)
c.13262A>G (p.Lys4421Arg)
c.13100A>G (p.Lys4367Arg)
c.13193A>G (p.Lys4398Arg)
c.13097A>G (p.Lys4366Arg)
c.13217A>G (p.Lys4406Arg)
c.13145A>G (p.Lys4382Arg)
c.13112A>G (p.Lys4371Arg)
c.13028A>G (p.Lys4343Arg)
c.12350A>G (p.Lys4117Arg)
c.10811A>G (p.Lys3604Arg)
c.13232A>G (p.Lys4411Arg)
c.13214A>G (p.Lys4405Arg)
c.13190A>G (p.Lys4397Arg)
c.13118A>G (p.Lys4373Arg)
c.13082A>G (p.Lys4361Arg)
c.9935A>G (p.Lys3312Arg)
c.9539A>G (p.Lys3180Arg)
7g.152148878T>GCA370093370KMT2Cc.1237A>C
n.2181A>C
c.13220A>C (p.Lys4407Thr)
n.2349A>C
n.8241A>C
c.3622A>C
c.10559A>C (p.Lys3520Thr)
n.4679A>C
c.3694A>C
n.1815A>C
n.1765A>C
c.1466A>C (p.Lys489Thr)
c.7946A>C (p.Lys2649Thr)
c.13049A>C (p.Lys4350Thr)
c.8836A>C
c.3691A>C
c.3625A>C
n.7760A>C
c.7949A>C (p.Lys2650Thr)
c.12614A>C (p.Lys4205Thr)
c.3626A>C
n.2064A>C
c.5730A>C
c.2900A>C (p.Lys967Thr)
n.10931A>C
c.*10569A>C (n.*10569A>C)
c.13265A>C (p.Lys4422Thr)
c.13262A>C (p.Lys4421Thr)
c.13100A>C (p.Lys4367Thr)
c.13193A>C (p.Lys4398Thr)
c.13097A>C (p.Lys4366Thr)
c.13217A>C (p.Lys4406Thr)
c.13145A>C (p.Lys4382Thr)
c.13112A>C (p.Lys4371Thr)
c.13028A>C (p.Lys4343Thr)
c.12350A>C (p.Lys4117Thr)
c.10811A>C (p.Lys3604Thr)
c.13232A>C (p.Lys4411Thr)
c.13214A>C (p.Lys4405Thr)
c.13190A>C (p.Lys4397Thr)
c.13118A>C (p.Lys4373Thr)
c.13082A>C (p.Lys4361Thr)
c.9935A>C (p.Lys3312Thr)
c.9539A>C (p.Lys3180Thr)
7g.152148879T>ACA370093372KMT2Cc.1236A>T
n.2180A>T
c.13219A>T (p.Lys4407Ter)
n.2348A>T
n.8240A>T
c.3621A>T
c.10558A>T (p.Lys3520Ter)
n.4678A>T
c.3693A>T
n.1814A>T
n.1764A>T
c.1465A>T (p.Lys489Ter)
c.7945A>T (p.Lys2649Ter)
c.13048A>T (p.Lys4350Ter)
c.8835A>T
c.3690A>T
c.3624A>T
n.7759A>T
c.7948A>T (p.Lys2650Ter)
c.12613A>T (p.Lys4205Ter)
c.3625A>T
n.2063A>T
c.5729A>T
c.2899A>T (p.Lys967Ter)
n.10930A>T
c.*10568A>T (n.*10568A>T)
c.13264A>T (p.Lys4422Ter)
c.13261A>T (p.Lys4421Ter)
c.13099A>T (p.Lys4367Ter)
c.13192A>T (p.Lys4398Ter)
c.13096A>T (p.Lys4366Ter)
c.13216A>T (p.Lys4406Ter)
c.13144A>T (p.Lys4382Ter)
c.13111A>T (p.Lys4371Ter)
c.13027A>T (p.Lys4343Ter)
c.12349A>T (p.Lys4117Ter)
c.10810A>T (p.Lys3604Ter)
c.13231A>T (p.Lys4411Ter)
c.13213A>T (p.Lys4405Ter)
c.13189A>T (p.Lys4397Ter)
c.13117A>T (p.Lys4373Ter)
c.13081A>T (p.Lys4361Ter)
c.9934A>T (p.Lys3312Ter)
c.9538A>T (p.Lys3180Ter)
7g.152148879T>CCA370093373KMT2Cc.1236A>G
n.2180A>G
c.13219A>G (p.Lys4407Glu)
n.2348A>G
n.8240A>G
c.3621A>G
c.10558A>G (p.Lys3520Glu)
n.4678A>G
c.3693A>G
n.1814A>G
n.1764A>G
c.1465A>G (p.Lys489Glu)
c.7945A>G (p.Lys2649Glu)
c.13048A>G (p.Lys4350Glu)
c.8835A>G
c.3690A>G
c.3624A>G
n.7759A>G
c.7948A>G (p.Lys2650Glu)
c.12613A>G (p.Lys4205Glu)
c.3625A>G
n.2063A>G
c.5729A>G
c.2899A>G (p.Lys967Glu)
n.10930A>G
c.*10568A>G (n.*10568A>G)
c.13264A>G (p.Lys4422Glu)
c.13261A>G (p.Lys4421Glu)
c.13099A>G (p.Lys4367Glu)
c.13192A>G (p.Lys4398Glu)
c.13096A>G (p.Lys4366Glu)
c.13216A>G (p.Lys4406Glu)
c.13144A>G (p.Lys4382Glu)
c.13111A>G (p.Lys4371Glu)
c.13027A>G (p.Lys4343Glu)
c.12349A>G (p.Lys4117Glu)
c.10810A>G (p.Lys3604Glu)
c.13231A>G (p.Lys4411Glu)
c.13213A>G (p.Lys4405Glu)
c.13189A>G (p.Lys4397Glu)
c.13117A>G (p.Lys4373Glu)
c.13081A>G (p.Lys4361Glu)
c.9934A>G (p.Lys3312Glu)
c.9538A>G (p.Lys3180Glu)
7g.152148879T>GCA370093375KMT2Cc.1236A>C
n.2180A>C
c.13219A>C (p.Lys4407Gln)
n.2348A>C
n.8240A>C
c.3621A>C
c.10558A>C (p.Lys3520Gln)
n.4678A>C
c.3693A>C
n.1814A>C
n.1764A>C
c.1465A>C (p.Lys489Gln)
c.7945A>C (p.Lys2649Gln)
c.13048A>C (p.Lys4350Gln)
c.8835A>C
c.3690A>C
c.3624A>C
n.7759A>C
c.7948A>C (p.Lys2650Gln)
c.12613A>C (p.Lys4205Gln)
c.3625A>C
n.2063A>C
c.5729A>C
c.2899A>C (p.Lys967Gln)
n.10930A>C
c.*10568A>C (n.*10568A>C)
c.13264A>C (p.Lys4422Gln)
c.13261A>C (p.Lys4421Gln)
c.13099A>C (p.Lys4367Gln)
c.13192A>C (p.Lys4398Gln)
c.13096A>C (p.Lys4366Gln)
c.13216A>C (p.Lys4406Gln)
c.13144A>C (p.Lys4382Gln)
c.13111A>C (p.Lys4371Gln)
c.13027A>C (p.Lys4343Gln)
c.12349A>C (p.Lys4117Gln)
c.10810A>C (p.Lys3604Gln)
c.13231A>C (p.Lys4411Gln)
c.13213A>C (p.Lys4405Gln)
c.13189A>C (p.Lys4397Gln)
c.13117A>C (p.Lys4373Gln)
c.13081A>C (p.Lys4361Gln)
c.9934A>C (p.Lys3312Gln)
c.9538A>C (p.Lys3180Gln)
7g.152148880A=CA1752986491KMT2Cc.1235T=
n.2179T=
c.13218T= (p.Asn4406=)
n.2347T=
n.8239T=
c.3620T=
c.10557T= (p.Asn3519=)
n.4677T=
c.3692T=
n.1813T=
n.1763T=
c.1464T= (p.Asn488=)
c.7944T= (p.Asn2648=)
c.13047T= (p.Asn4349=)
c.8834T=
c.3689T=
c.3623T=
n.7758T=
c.7947T= (p.Asn2649=)
c.12612T= (p.Asn4204=)
c.3624T=
n.2062T=
c.5728T=
c.2898T= (p.Asn966=)
n.10929T=
c.*10567T= (n.*10567T=)
c.13263T= (p.Asn4421=)
c.13260T= (p.Asn4420=)
c.13098T= (p.Asn4366=)
c.13191T= (p.Asn4397=)
c.13095T= (p.Asn4365=)
c.13215T= (p.Asn4405=)
c.13143T= (p.Asn4381=)
c.13110T= (p.Asn4370=)
c.13026T= (p.Asn4342=)
c.12348T= (p.Asn4116=)
c.10809T= (p.Asn3603=)
c.13230T= (p.Asn4410=)
c.13212T= (p.Asn4404=)
c.13188T= (p.Asn4396=)
c.13116T= (p.Asn4372=)
c.13080T= (p.Asn4360=)
c.9933T= (p.Asn3311=)
c.9537T= (p.Asn3179=)
7g.152148880A>CCA370093376KMT2Cc.1235T>G
n.2179T>G
c.13218T>G (p.Asn4406Lys)
n.2347T>G
n.8239T>G
c.3620T>G
c.10557T>G (p.Asn3519Lys)
n.4677T>G
c.3692T>G
n.1813T>G
n.1763T>G
c.1464T>G (p.Asn488Lys)
c.7944T>G (p.Asn2648Lys)
c.13047T>G (p.Asn4349Lys)
c.8834T>G
c.3689T>G
c.3623T>G
n.7758T>G
c.7947T>G (p.Asn2649Lys)
c.12612T>G (p.Asn4204Lys)
c.3624T>G
n.2062T>G
c.5728T>G
c.2898T>G (p.Asn966Lys)
n.10929T>G
c.*10567T>G (n.*10567T>G)
c.13263T>G (p.Asn4421Lys)
c.13260T>G (p.Asn4420Lys)
c.13098T>G (p.Asn4366Lys)
c.13191T>G (p.Asn4397Lys)
c.13095T>G (p.Asn4365Lys)
c.13215T>G (p.Asn4405Lys)
c.13143T>G (p.Asn4381Lys)
c.13110T>G (p.Asn4370Lys)
c.13026T>G (p.Asn4342Lys)
c.12348T>G (p.Asn4116Lys)
c.10809T>G (p.Asn3603Lys)
c.13230T>G (p.Asn4410Lys)
c.13212T>G (p.Asn4404Lys)
c.13188T>G (p.Asn4396Lys)
c.13116T>G (p.Asn4372Lys)
c.13080T>G (p.Asn4360Lys)
c.9933T>G (p.Asn3311Lys)
c.9537T>G (p.Asn3179Lys)
dbSNP
7g.152148880A>GCA458884946KMT2Cc.1235T>C
n.2179T>C
c.13218T>C (p.Asn4406=)
n.2347T>C
n.8239T>C
c.3620T>C
c.10557T>C (p.Asn3519=)
n.4677T>C
c.3692T>C
n.1813T>C
n.1763T>C
c.1464T>C (p.Asn488=)
c.7944T>C (p.Asn2648=)
c.13047T>C (p.Asn4349=)
c.8834T>C
c.3689T>C
c.3623T>C
n.7758T>C
c.7947T>C (p.Asn2649=)
c.12612T>C (p.Asn4204=)
c.3624T>C
n.2062T>C
c.5728T>C
c.2898T>C (p.Asn966=)
n.10929T>C
c.*10567T>C (n.*10567T>C)
c.13263T>C (p.Asn4421=)
c.13260T>C (p.Asn4420=)
c.13098T>C (p.Asn4366=)
c.13191T>C (p.Asn4397=)
c.13095T>C (p.Asn4365=)
c.13215T>C (p.Asn4405=)
c.13143T>C (p.Asn4381=)
c.13110T>C (p.Asn4370=)
c.13026T>C (p.Asn4342=)
c.12348T>C (p.Asn4116=)
c.10809T>C (p.Asn3603=)
c.13230T>C (p.Asn4410=)
c.13212T>C (p.Asn4404=)
c.13188T>C (p.Asn4396=)
c.13116T>C (p.Asn4372=)
c.13080T>C (p.Asn4360=)
c.9933T>C (p.Asn3311=)
c.9537T>C (p.Asn3179=)
7g.152148880A>TCA370093378KMT2Cc.1235T>A
n.2179T>A
c.13218T>A (p.Asn4406Lys)
n.2347T>A
n.8239T>A
c.3620T>A
c.10557T>A (p.Asn3519Lys)
n.4677T>A
c.3692T>A
n.1813T>A
n.1763T>A
c.1464T>A (p.Asn488Lys)
c.7944T>A (p.Asn2648Lys)
c.13047T>A (p.Asn4349Lys)
c.8834T>A
c.3689T>A
c.3623T>A
n.7758T>A
c.7947T>A (p.Asn2649Lys)
c.12612T>A (p.Asn4204Lys)
c.3624T>A
n.2062T>A
c.5728T>A
c.2898T>A (p.Asn966Lys)
n.10929T>A
c.*10567T>A (n.*10567T>A)
c.13263T>A (p.Asn4421Lys)
c.13260T>A (p.Asn4420Lys)
c.13098T>A (p.Asn4366Lys)
c.13191T>A (p.Asn4397Lys)
c.13095T>A (p.Asn4365Lys)
c.13215T>A (p.Asn4405Lys)
c.13143T>A (p.Asn4381Lys)
c.13110T>A (p.Asn4370Lys)
c.13026T>A (p.Asn4342Lys)
c.12348T>A (p.Asn4116Lys)
c.10809T>A (p.Asn3603Lys)
c.13230T>A (p.Asn4410Lys)
c.13212T>A (p.Asn4404Lys)
c.13188T>A (p.Asn4396Lys)
c.13116T>A (p.Asn4372Lys)
c.13080T>A (p.Asn4360Lys)
c.9933T>A (p.Asn3311Lys)
c.9537T>A (p.Asn3179Lys)
7g.152148880dupCA645565081KMT2Cc.1235dup
n.2179dup
c.13218dup (p.Lys4407Ter)
n.2347dup
n.8239dup
c.3620dup
c.10557dup (p.Lys3520Ter)
n.4677dup
c.3692dup
n.1813dup
n.1763dup
c.1464dup (p.Lys489Ter)
c.7944dup (p.Lys2649Ter)
c.13047dup (p.Lys4350Ter)
c.8834dup
c.3689dup
c.3623dup
n.7758dup
c.7947dup (p.Lys2650Ter)
c.12612dup (p.Lys4205Ter)
c.3624dup
n.2062dup
c.5728dup
c.2898dup (p.Lys967Ter)
n.10929dup
c.*10567dup (n.*10567dup)
c.13263dup (p.Lys4422Ter)
c.13260dup (p.Lys4421Ter)
c.13098dup (p.Lys4367Ter)
c.13191dup (p.Lys4398Ter)
c.13095dup (p.Lys4366Ter)
c.13215dup (p.Lys4406Ter)
c.13143dup (p.Lys4382Ter)
c.13110dup (p.Lys4371Ter)
c.13026dup (p.Lys4343Ter)
c.12348dup (p.Lys4117Ter)
c.10809dup (p.Lys3604Ter)
c.13230dup (p.Lys4411Ter)
c.13212dup (p.Lys4405Ter)
c.13188dup (p.Lys4397Ter)
c.13116dup (p.Lys4373Ter)
c.13080dup (p.Lys4361Ter)
c.9933dup (p.Lys3312Ter)
c.9537dup (p.Lys3180Ter)
COSMIC COSMIC
7g.152148880_152148884delCA2512222109KMT2Cc.1231_1235del
n.2175_2179del
c.13214_13218del (p.Leu4405GlnfsTer19)
n.2343_2347del
n.8235_8239del
c.3616_3620del
c.10553_10557del (p.Leu3518GlnfsTer19)
n.4673_4677del
c.3688_3692del
n.1809_1813del
n.1759_1763del
c.1460_1464del (p.Leu487GlnfsTer19)
c.7940_7944del (p.Leu2647GlnfsTer19)
c.13043_13047del (p.Leu4348GlnfsTer19)
c.8830_8834del
c.3685_3689del
c.3619_3623del
n.7754_7758del
c.7943_7947del (p.Leu2648GlnfsTer19)
c.12608_12612del (p.Leu4203GlnfsTer19)
c.3620_3624del
n.2058_2062del
c.5724_5728del
c.2894_2898del (p.Leu965GlnfsTer19)
n.10925_10929del
c.*10563_*10567del (n.*10563_*10567del)
c.13259_13263del (p.Leu4420GlnfsTer19)
c.13256_13260del (p.Leu4419GlnfsTer19)
c.13094_13098del (p.Leu4365GlnfsTer19)
c.13187_13191del (p.Leu4396GlnfsTer19)
c.13091_13095del (p.Leu4364GlnfsTer19)
c.13211_13215del (p.Leu4404GlnfsTer19)
c.13139_13143del (p.Leu4380GlnfsTer19)
c.13106_13110del (p.Leu4369GlnfsTer19)
c.13022_13026del (p.Leu4341GlnfsTer19)
c.12344_12348del (p.Leu4115GlnfsTer19)
c.10805_10809del (p.Leu3602GlnfsTer19)
c.13226_13230del (p.Leu4409GlnfsTer19)
c.13208_13212del (p.Leu4403GlnfsTer19)
c.13184_13188del (p.Leu4395GlnfsTer19)
c.13112_13116del (p.Leu4371GlnfsTer19)
c.13076_13080del (p.Leu4359GlnfsTer19)
c.9929_9933del (p.Leu3310GlnfsTer19)
c.9533_9537del (p.Leu3178GlnfsTer19)
7g.152148881T>ACA370093379KMT2Cc.1234A>T
n.2178A>T
c.13217A>T (p.Asn4406Ile)
n.2346A>T
n.8238A>T
c.3619A>T
c.10556A>T (p.Asn3519Ile)
n.4676A>T
c.3691A>T
n.1812A>T
n.1762A>T
c.1463A>T (p.Asn488Ile)
c.7943A>T (p.Asn2648Ile)
c.13046A>T (p.Asn4349Ile)
c.8833A>T
c.3688A>T
c.3622A>T
n.7757A>T
c.7946A>T (p.Asn2649Ile)
c.12611A>T (p.Asn4204Ile)
c.3623A>T
n.2061A>T
c.5727A>T
c.2897A>T (p.Asn966Ile)
n.10928A>T
c.*10566A>T (n.*10566A>T)
c.13262A>T (p.Asn4421Ile)
c.13259A>T (p.Asn4420Ile)
c.13097A>T (p.Asn4366Ile)
c.13190A>T (p.Asn4397Ile)
c.13094A>T (p.Asn4365Ile)
c.13214A>T (p.Asn4405Ile)
c.13142A>T (p.Asn4381Ile)
c.13109A>T (p.Asn4370Ile)
c.13025A>T (p.Asn4342Ile)
c.12347A>T (p.Asn4116Ile)
c.10808A>T (p.Asn3603Ile)
c.13229A>T (p.Asn4410Ile)
c.13211A>T (p.Asn4404Ile)
c.13187A>T (p.Asn4396Ile)
c.13115A>T (p.Asn4372Ile)
c.13079A>T (p.Asn4360Ile)
c.9932A>T (p.Asn3311Ile)
c.9536A>T (p.Asn3179Ile)
dbSNP gnomAD v3 gnomAD v4
7g.152148881T>CCA4578678KMT2Cc.1234A>G
n.2178A>G
c.13217A>G (p.Asn4406Ser)
n.2346A>G
n.8238A>G
c.3619A>G
c.10556A>G (p.Asn3519Ser)
n.4676A>G
c.3691A>G
n.1812A>G
n.1762A>G
c.1463A>G (p.Asn488Ser)
c.7943A>G (p.Asn2648Ser)
c.13046A>G (p.Asn4349Ser)
c.8833A>G
c.3688A>G
c.3622A>G
n.7757A>G
c.7946A>G (p.Asn2649Ser)
c.12611A>G (p.Asn4204Ser)
c.3623A>G
n.2061A>G
c.5727A>G
c.2897A>G (p.Asn966Ser)
n.10928A>G
c.*10566A>G (n.*10566A>G)
c.13262A>G (p.Asn4421Ser)
c.13259A>G (p.Asn4420Ser)
c.13097A>G (p.Asn4366Ser)
c.13190A>G (p.Asn4397Ser)
c.13094A>G (p.Asn4365Ser)
c.13214A>G (p.Asn4405Ser)
c.13142A>G (p.Asn4381Ser)
c.13109A>G (p.Asn4370Ser)
c.13025A>G (p.Asn4342Ser)
c.12347A>G (p.Asn4116Ser)
c.10808A>G (p.Asn3603Ser)
c.13229A>G (p.Asn4410Ser)
c.13211A>G (p.Asn4404Ser)
c.13187A>G (p.Asn4396Ser)
c.13115A>G (p.Asn4372Ser)
c.13079A>G (p.Asn4360Ser)
c.9932A>G (p.Asn3311Ser)
c.9536A>G (p.Asn3179Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.152148881T>GCA370093381KMT2Cc.1234A>C
n.2178A>C
c.13217A>C (p.Asn4406Thr)
n.2346A>C
n.8238A>C
c.3619A>C
c.10556A>C (p.Asn3519Thr)
n.4676A>C
c.3691A>C
n.1812A>C
n.1762A>C
c.1463A>C (p.Asn488Thr)
c.7943A>C (p.Asn2648Thr)
c.13046A>C (p.Asn4349Thr)
c.8833A>C
c.3688A>C
c.3622A>C
n.7757A>C
c.7946A>C (p.Asn2649Thr)
c.12611A>C (p.Asn4204Thr)
c.3623A>C
n.2061A>C
c.5727A>C
c.2897A>C (p.Asn966Thr)
n.10928A>C
c.*10566A>C (n.*10566A>C)
c.13262A>C (p.Asn4421Thr)
c.13259A>C (p.Asn4420Thr)
c.13097A>C (p.Asn4366Thr)
c.13190A>C (p.Asn4397Thr)
c.13094A>C (p.Asn4365Thr)
c.13214A>C (p.Asn4405Thr)
c.13142A>C (p.Asn4381Thr)
c.13109A>C (p.Asn4370Thr)
c.13025A>C (p.Asn4342Thr)
c.12347A>C (p.Asn4116Thr)
c.10808A>C (p.Asn3603Thr)
c.13229A>C (p.Asn4410Thr)
c.13211A>C (p.Asn4404Thr)
c.13187A>C (p.Asn4396Thr)
c.13115A>C (p.Asn4372Thr)
c.13079A>C (p.Asn4360Thr)
c.9932A>C (p.Asn3311Thr)
c.9536A>C (p.Asn3179Thr)
7g.152148881T=CA1752986493KMT2Cc.1234A=
n.2178A=
c.13217A= (p.Asn4406=)
n.2346A=
n.8238A=
c.3619A=
c.10556A= (p.Asn3519=)
n.4676A=
c.3691A=
n.1812A=
n.1762A=
c.1463A= (p.Asn488=)
c.7943A= (p.Asn2648=)
c.13046A= (p.Asn4349=)
c.8833A=
c.3688A=
c.3622A=
n.7757A=
c.7946A= (p.Asn2649=)
c.12611A= (p.Asn4204=)
c.3623A=
n.2061A=
c.5727A=
c.2897A= (p.Asn966=)
n.10928A=
c.*10566A= (n.*10566A=)
c.13262A= (p.Asn4421=)
c.13259A= (p.Asn4420=)
c.13097A= (p.Asn4366=)
c.13190A= (p.Asn4397=)
c.13094A= (p.Asn4365=)
c.13214A= (p.Asn4405=)
c.13142A= (p.Asn4381=)
c.13109A= (p.Asn4370=)
c.13025A= (p.Asn4342=)
c.12347A= (p.Asn4116=)
c.10808A= (p.Asn3603=)
c.13229A= (p.Asn4410=)
c.13211A= (p.Asn4404=)
c.13187A= (p.Asn4396=)
c.13115A= (p.Asn4372=)
c.13079A= (p.Asn4360=)
c.9932A= (p.Asn3311=)
c.9536A= (p.Asn3179=)
7g.152148882dupCA458884951KMT2Cc.1234dup
n.2178dup
c.13217dup (p.Asn4406LysfsTer2)
n.2346dup
n.8238dup
c.3619dup
c.10556dup (p.Asn3519LysfsTer2)
n.4676dup
c.3691dup
n.1812dup
n.1762dup
c.1463dup (p.Asn488LysfsTer2)
c.7943dup (p.Asn2648LysfsTer2)
c.13046dup (p.Asn4349LysfsTer2)
c.8833dup
c.3688dup
c.3622dup
n.7757dup
c.7946dup (p.Asn2649LysfsTer2)
c.12611dup (p.Asn4204LysfsTer2)
c.3623dup
n.2061dup
c.5727dup
c.2897dup (p.Asn966LysfsTer2)
n.10928dup
c.*10566dup (n.*10566dup)
c.13262dup (p.Asn4421LysfsTer2)
c.13259dup (p.Asn4420LysfsTer2)
c.13097dup (p.Asn4366LysfsTer2)
c.13190dup (p.Asn4397LysfsTer2)
c.13094dup (p.Asn4365LysfsTer2)
c.13214dup (p.Asn4405LysfsTer2)
c.13142dup (p.Asn4381LysfsTer2)
c.13109dup (p.Asn4370LysfsTer2)
c.13025dup (p.Asn4342LysfsTer2)
c.12347dup (p.Asn4116LysfsTer2)
c.10808dup (p.Asn3603LysfsTer2)
c.13229dup (p.Asn4410LysfsTer2)
c.13211dup (p.Asn4404LysfsTer2)
c.13187dup (p.Asn4396LysfsTer2)
c.13115dup (p.Asn4372LysfsTer2)
c.13079dup (p.Asn4360LysfsTer2)
c.9932dup (p.Asn3311LysfsTer2)
c.9536dup (p.Asn3179LysfsTer2)
7g.152148882T>ACA370093385KMT2Cc.1233A>T
n.2177A>T
c.13216A>T (p.Asn4406Tyr)
n.2345A>T
n.8237A>T
c.3618A>T
c.10555A>T (p.Asn3519Tyr)
n.4675A>T
c.3690A>T
n.1811A>T
n.1761A>T
c.1462A>T (p.Asn488Tyr)
c.7942A>T (p.Asn2648Tyr)
c.13045A>T (p.Asn4349Tyr)
c.8832A>T
c.3687A>T
c.3621A>T
n.7756A>T
c.7945A>T (p.Asn2649Tyr)
c.12610A>T (p.Asn4204Tyr)
c.3622A>T
n.2060A>T
c.5726A>T
c.2896A>T (p.Asn966Tyr)
n.10927A>T
c.*10565A>T (n.*10565A>T)
c.13261A>T (p.Asn4421Tyr)
c.13258A>T (p.Asn4420Tyr)
c.13096A>T (p.Asn4366Tyr)
c.13189A>T (p.Asn4397Tyr)
c.13093A>T (p.Asn4365Tyr)
c.13213A>T (p.Asn4405Tyr)
c.13141A>T (p.Asn4381Tyr)
c.13108A>T (p.Asn4370Tyr)
c.13024A>T (p.Asn4342Tyr)
c.12346A>T (p.Asn4116Tyr)
c.10807A>T (p.Asn3603Tyr)
c.13228A>T (p.Asn4410Tyr)
c.13210A>T (p.Asn4404Tyr)
c.13186A>T (p.Asn4396Tyr)
c.13114A>T (p.Asn4372Tyr)
c.13078A>T (p.Asn4360Tyr)
c.9931A>T (p.Asn3311Tyr)
c.9535A>T (p.Asn3179Tyr)
7g.152148882T>CCA370093386KMT2Cc.1233A>G
n.2177A>G
c.13216A>G (p.Asn4406Asp)
n.2345A>G
n.8237A>G
c.3618A>G
c.10555A>G (p.Asn3519Asp)
n.4675A>G
c.3690A>G
n.1811A>G
n.1761A>G
c.1462A>G (p.Asn488Asp)
c.7942A>G (p.Asn2648Asp)
c.13045A>G (p.Asn4349Asp)
c.8832A>G
c.3687A>G
c.3621A>G
n.7756A>G
c.7945A>G (p.Asn2649Asp)
c.12610A>G (p.Asn4204Asp)
c.3622A>G
n.2060A>G
c.5726A>G
c.2896A>G (p.Asn966Asp)
n.10927A>G
c.*10565A>G (n.*10565A>G)
c.13261A>G (p.Asn4421Asp)
c.13258A>G (p.Asn4420Asp)
c.13096A>G (p.Asn4366Asp)
c.13189A>G (p.Asn4397Asp)
c.13093A>G (p.Asn4365Asp)
c.13213A>G (p.Asn4405Asp)
c.13141A>G (p.Asn4381Asp)
c.13108A>G (p.Asn4370Asp)
c.13024A>G (p.Asn4342Asp)
c.12346A>G (p.Asn4116Asp)
c.10807A>G (p.Asn3603Asp)
c.13228A>G (p.Asn4410Asp)
c.13210A>G (p.Asn4404Asp)
c.13186A>G (p.Asn4396Asp)
c.13114A>G (p.Asn4372Asp)
c.13078A>G (p.Asn4360Asp)
c.9931A>G (p.Asn3311Asp)
c.9535A>G (p.Asn3179Asp)
dbSNP gnomAD v4
7g.152148882T>GCA370093383KMT2Cc.1233A>C
n.2177A>C
c.13216A>C (p.Asn4406His)
n.2345A>C
n.8237A>C
c.3618A>C
c.10555A>C (p.Asn3519His)
n.4675A>C
c.3690A>C
n.1811A>C
n.1761A>C
c.1462A>C (p.Asn488His)
c.7942A>C (p.Asn2648His)
c.13045A>C (p.Asn4349His)
c.8832A>C
c.3687A>C
c.3621A>C
n.7756A>C
c.7945A>C (p.Asn2649His)
c.12610A>C (p.Asn4204His)
c.3622A>C
n.2060A>C
c.5726A>C
c.2896A>C (p.Asn966His)
n.10927A>C
c.*10565A>C (n.*10565A>C)
c.13261A>C (p.Asn4421His)
c.13258A>C (p.Asn4420His)
c.13096A>C (p.Asn4366His)
c.13189A>C (p.Asn4397His)
c.13093A>C (p.Asn4365His)
c.13213A>C (p.Asn4405His)
c.13141A>C (p.Asn4381His)
c.13108A>C (p.Asn4370His)
c.13024A>C (p.Asn4342His)
c.12346A>C (p.Asn4116His)
c.10807A>C (p.Asn3603His)
c.13228A>C (p.Asn4410His)
c.13210A>C (p.Asn4404His)
c.13186A>C (p.Asn4396His)
c.13114A>C (p.Asn4372His)
c.13078A>C (p.Asn4360His)
c.9931A>C (p.Asn3311His)
c.9535A>C (p.Asn3179His)
7g.152148882T=CA1752986495KMT2Cc.1233A=
n.2177A=
c.13216A= (p.Asn4406=)
n.2345A=
n.8237A=
c.3618A=
c.10555A= (p.Asn3519=)
n.4675A=
c.3690A=
n.1811A=
n.1761A=
c.1462A= (p.Asn488=)
c.7942A= (p.Asn2648=)
c.13045A= (p.Asn4349=)
c.8832A=
c.3687A=
c.3621A=
n.7756A=
c.7945A= (p.Asn2649=)
c.12610A= (p.Asn4204=)
c.3622A=
n.2060A=
c.5726A=
c.2896A= (p.Asn966=)
n.10927A=
c.*10565A= (n.*10565A=)
c.13261A= (p.Asn4421=)
c.13258A= (p.Asn4420=)
c.13096A= (p.Asn4366=)
c.13189A= (p.Asn4397=)
c.13093A= (p.Asn4365=)
c.13213A= (p.Asn4405=)
c.13141A= (p.Asn4381=)
c.13108A= (p.Asn4370=)
c.13024A= (p.Asn4342=)
c.12346A= (p.Asn4116=)
c.10807A= (p.Asn3603=)
c.13228A= (p.Asn4410=)
c.13210A= (p.Asn4404=)
c.13186A= (p.Asn4396=)
c.13114A= (p.Asn4372=)
c.13078A= (p.Asn4360=)
c.9931A= (p.Asn3311=)
c.9535A= (p.Asn3179=)
7g.152148883G>ACA458884959KMT2Cc.1232C>T
n.2176C>T
c.13215C>T (p.Leu4405=)
n.2344C>T
n.8236C>T
c.3617C>T
c.10554C>T (p.Leu3518=)
n.4674C>T
c.3689C>T
n.1810C>T
n.1760C>T
c.1461C>T (p.Leu487=)
c.7941C>T (p.Leu2647=)
c.13044C>T (p.Leu4348=)
c.8831C>T
c.3686C>T
c.3620C>T
n.7755C>T
c.7944C>T (p.Leu2648=)
c.12609C>T (p.Leu4203=)
c.3621C>T
n.2059C>T
c.5725C>T
c.2895C>T (p.Leu965=)
n.10926C>T
c.*10564C>T (n.*10564C>T)
c.13260C>T (p.Leu4420=)
c.13257C>T (p.Leu4419=)
c.13095C>T (p.Leu4365=)
c.13188C>T (p.Leu4396=)
c.13092C>T (p.Leu4364=)
c.13212C>T (p.Leu4404=)
c.13140C>T (p.Leu4380=)
c.13107C>T (p.Leu4369=)
c.13023C>T (p.Leu4341=)
c.12345C>T (p.Leu4115=)
c.10806C>T (p.Leu3602=)
c.13227C>T (p.Leu4409=)
c.13209C>T (p.Leu4403=)
c.13185C>T (p.Leu4395=)
c.13113C>T (p.Leu4371=)
c.13077C>T (p.Leu4359=)
c.9930C>T (p.Leu3310=)
c.9534C>T (p.Leu3178=)
gnomAD v4
7g.152148883G>CCA458884960KMT2Cc.1232C>G
n.2176C>G
c.13215C>G (p.Leu4405=)
n.2344C>G
n.8236C>G
c.3617C>G
c.10554C>G (p.Leu3518=)
n.4674C>G
c.3689C>G
n.1810C>G
n.1760C>G
c.1461C>G (p.Leu487=)
c.7941C>G (p.Leu2647=)
c.13044C>G (p.Leu4348=)
c.8831C>G
c.3686C>G
c.3620C>G
n.7755C>G
c.7944C>G (p.Leu2648=)
c.12609C>G (p.Leu4203=)
c.3621C>G
n.2059C>G
c.5725C>G
c.2895C>G (p.Leu965=)
n.10926C>G
c.*10564C>G (n.*10564C>G)
c.13260C>G (p.Leu4420=)
c.13257C>G (p.Leu4419=)
c.13095C>G (p.Leu4365=)
c.13188C>G (p.Leu4396=)
c.13092C>G (p.Leu4364=)
c.13212C>G (p.Leu4404=)
c.13140C>G (p.Leu4380=)
c.13107C>G (p.Leu4369=)
c.13023C>G (p.Leu4341=)
c.12345C>G (p.Leu4115=)
c.10806C>G (p.Leu3602=)
c.13227C>G (p.Leu4409=)
c.13209C>G (p.Leu4403=)
c.13185C>G (p.Leu4395=)
c.13113C>G (p.Leu4371=)
c.13077C>G (p.Leu4359=)
c.9930C>G (p.Leu3310=)
c.9534C>G (p.Leu3178=)
7g.152148883G>TCA458884961KMT2Cc.1232C>A
n.2176C>A
c.13215C>A (p.Leu4405=)
n.2344C>A
n.8236C>A
c.3617C>A
c.10554C>A (p.Leu3518=)
n.4674C>A
c.3689C>A
n.1810C>A
n.1760C>A
c.1461C>A (p.Leu487=)
c.7941C>A (p.Leu2647=)
c.13044C>A (p.Leu4348=)
c.8831C>A
c.3686C>A
c.3620C>A
n.7755C>A
c.7944C>A (p.Leu2648=)
c.12609C>A (p.Leu4203=)
c.3621C>A
n.2059C>A
c.5725C>A
c.2895C>A (p.Leu965=)
n.10926C>A
c.*10564C>A (n.*10564C>A)
c.13260C>A (p.Leu4420=)
c.13257C>A (p.Leu4419=)
c.13095C>A (p.Leu4365=)
c.13188C>A (p.Leu4396=)
c.13092C>A (p.Leu4364=)
c.13212C>A (p.Leu4404=)
c.13140C>A (p.Leu4380=)
c.13107C>A (p.Leu4369=)
c.13023C>A (p.Leu4341=)
c.12345C>A (p.Leu4115=)
c.10806C>A (p.Leu3602=)
c.13227C>A (p.Leu4409=)
c.13209C>A (p.Leu4403=)
c.13185C>A (p.Leu4395=)
c.13113C>A (p.Leu4371=)
c.13077C>A (p.Leu4359=)
c.9930C>A (p.Leu3310=)
c.9534C>A (p.Leu3178=)
7g.152148884A>CCA370093388KMT2Cc.1231T>G
n.2175T>G
c.13214T>G (p.Leu4405Arg)
n.2343T>G
n.8235T>G
c.3616T>G
c.10553T>G (p.Leu3518Arg)
n.4673T>G
c.3688T>G
n.1809T>G
n.1759T>G
c.1460T>G (p.Leu487Arg)
c.7940T>G (p.Leu2647Arg)
c.13043T>G (p.Leu4348Arg)
c.8830T>G
c.3685T>G
c.3619T>G
n.7754T>G
c.7943T>G (p.Leu2648Arg)
c.12608T>G (p.Leu4203Arg)
c.3620T>G
n.2058T>G
c.5724T>G
c.2894T>G (p.Leu965Arg)
n.10925T>G
c.*10563T>G (n.*10563T>G)
c.13259T>G (p.Leu4420Arg)
c.13256T>G (p.Leu4419Arg)
c.13094T>G (p.Leu4365Arg)
c.13187T>G (p.Leu4396Arg)
c.13091T>G (p.Leu4364Arg)
c.13211T>G (p.Leu4404Arg)
c.13139T>G (p.Leu4380Arg)
c.13106T>G (p.Leu4369Arg)
c.13022T>G (p.Leu4341Arg)
c.12344T>G (p.Leu4115Arg)
c.10805T>G (p.Leu3602Arg)
c.13226T>G (p.Leu4409Arg)
c.13208T>G (p.Leu4403Arg)
c.13184T>G (p.Leu4395Arg)
c.13112T>G (p.Leu4371Arg)
c.13076T>G (p.Leu4359Arg)
c.9929T>G (p.Leu3310Arg)
c.9533T>G (p.Leu3178Arg)
7g.152148884A>GCA370093389KMT2Cc.1231T>C
n.2175T>C
c.13214T>C (p.Leu4405Pro)
n.2343T>C
n.8235T>C
c.3616T>C
c.10553T>C (p.Leu3518Pro)
n.4673T>C
c.3688T>C
n.1809T>C
n.1759T>C
c.1460T>C (p.Leu487Pro)
c.7940T>C (p.Leu2647Pro)
c.13043T>C (p.Leu4348Pro)
c.8830T>C
c.3685T>C
c.3619T>C
n.7754T>C
c.7943T>C (p.Leu2648Pro)
c.12608T>C (p.Leu4203Pro)
c.3620T>C
n.2058T>C
c.5724T>C
c.2894T>C (p.Leu965Pro)
n.10925T>C
c.*10563T>C (n.*10563T>C)
c.13259T>C (p.Leu4420Pro)
c.13256T>C (p.Leu4419Pro)
c.13094T>C (p.Leu4365Pro)
c.13187T>C (p.Leu4396Pro)
c.13091T>C (p.Leu4364Pro)
c.13211T>C (p.Leu4404Pro)
c.13139T>C (p.Leu4380Pro)
c.13106T>C (p.Leu4369Pro)
c.13022T>C (p.Leu4341Pro)
c.12344T>C (p.Leu4115Pro)
c.10805T>C (p.Leu3602Pro)
c.13226T>C (p.Leu4409Pro)
c.13208T>C (p.Leu4403Pro)
c.13184T>C (p.Leu4395Pro)
c.13112T>C (p.Leu4371Pro)
c.13076T>C (p.Leu4359Pro)
c.9929T>C (p.Leu3310Pro)
c.9533T>C (p.Leu3178Pro)
dbSNP
7g.152148884A>TCA370093391KMT2Cc.1231T>A
n.2175T>A
c.13214T>A (p.Leu4405His)
n.2343T>A
n.8235T>A
c.3616T>A
c.10553T>A (p.Leu3518His)
n.4673T>A
c.3688T>A
n.1809T>A
n.1759T>A
c.1460T>A (p.Leu487His)
c.7940T>A (p.Leu2647His)
c.13043T>A (p.Leu4348His)
c.8830T>A
c.3685T>A
c.3619T>A
n.7754T>A
c.7943T>A (p.Leu2648His)
c.12608T>A (p.Leu4203His)
c.3620T>A
n.2058T>A
c.5724T>A
c.2894T>A (p.Leu965His)
n.10925T>A
c.*10563T>A (n.*10563T>A)
c.13259T>A (p.Leu4420His)
c.13256T>A (p.Leu4419His)
c.13094T>A (p.Leu4365His)
c.13187T>A (p.Leu4396His)
c.13091T>A (p.Leu4364His)
c.13211T>A (p.Leu4404His)
c.13139T>A (p.Leu4380His)
c.13106T>A (p.Leu4369His)
c.13022T>A (p.Leu4341His)
c.12344T>A (p.Leu4115His)
c.10805T>A (p.Leu3602His)
c.13226T>A (p.Leu4409His)
c.13208T>A (p.Leu4403His)
c.13184T>A (p.Leu4395His)
c.13112T>A (p.Leu4371His)
c.13076T>A (p.Leu4359His)
c.9929T>A (p.Leu3310His)
c.9533T>A (p.Leu3178His)
dbSNP

Number of alleles fetched