Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.152148784T>A | CA370093035 | KMT2C | c.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) | |
7 | g.152148784T>C | CA4578664 | KMT2C | c.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 |
7 | g.152148784T>G | CA370093037 | KMT2C | c.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) | |
7 | g.152148784T= | CA1752986319 | KMT2C | c.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=) | |
7 | g.152148785T>A | CA370093038 | KMT2C | c.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) | |
7 | g.152148785T>C | CA370093040 | KMT2C | c.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) | |
7 | g.152148785T>G | CA370093042 | KMT2C | c.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) | |
7 | g.152148786C>A | CA370093043 | KMT2C | c.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) | |
7 | g.152148786C>G | CA370093045 | KMT2C | c.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) | |
7 | g.152148786C>T | CA370093046 | KMT2C | c.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 |
7 | g.152148787A= | CA1752986324 | KMT2C | c.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=) | |
7 | g.152148787A>C | CA169220829 | KMT2C | c.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 |
7 | g.152148787A>G | CA169220834 | KMT2C | c.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 |
7 | g.152148787A>T | CA370093048 | KMT2C | c.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) | |
7 | g.152148788T>A | CA370093050 | KMT2C | c.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) | |
7 | g.152148788T>C | CA370093051 | KMT2C | c.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) | |
7 | g.152148788T>G | CA370093049 | KMT2C | c.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) | |
7 | g.152148789C>A | CA4578665 | KMT2C | c.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 |
7 | g.152148789C= | CA1752986340 | KMT2C | c.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=) | |
7 | g.152148789C>G | CA370093054 | KMT2C | c.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 |
7 | g.152148789C>T | CA370093053 | KMT2C | c.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) | |
7 | g.152148790T>A | CA458884714 | KMT2C | c.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=) | |
7 | g.152148790T>C | CA370093056 | KMT2C | c.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) | |
7 | g.152148790T>G | CA458884715 | KMT2C | c.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=) | |
7 | g.152148791A>C | CA370093058 | KMT2C | c.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) | |
7 | g.152148791A>G | CA370093060 | KMT2C | c.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) | |
7 | g.152148791A>T | CA370093061 | KMT2C | c.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) | |
7 | g.152148792T>A | CA370093062 | KMT2C | c.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) | |
7 | g.152148792T>C | CA169220845 | KMT2C | c.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 |
7 | g.152148792T>G | CA370093064 | KMT2C | c.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) | |
7 | g.152148792T= | CA1752986343 | KMT2C | c.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=) | |
7 | g.152148793T>A | CA370093067 | KMT2C | c.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) | |
7 | g.152148793T>C | CA458884721 | KMT2C | c.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 |
7 | g.152148793T>G | CA370093068 | KMT2C | c.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) | |
7 | g.152148793T= | CA1752986347 | KMT2C | c.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=) | |
7 | g.152148794T>A | CA370093070 | KMT2C | c.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) | |
7 | g.152148794T>C | CA370093072 | KMT2C | c.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) | |
7 | g.152148794T>G | CA370093074 | KMT2C | c.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) | |
7 | g.152148795C>A | CA370093075 | KMT2C | c.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) | |
7 | g.152148795C>G | CA370093077 | KMT2C | c.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) | |
7 | g.152148795C>T | CA370093076 | KMT2C | c.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 |
7 | g.152148796A>C | CA370093079 | KMT2C | c.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) | |
7 | g.152148796A>G | CA458884728 | KMT2C | c.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=) | |
7 | g.152148796A>T | CA370093081 | KMT2C | c.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) | |
7 | g.152148797T>A | CA370093082 | KMT2C | c.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) | |
7 | g.152148797T>C | CA370093084 | KMT2C | c.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) | |
7 | g.152148797T>G | CA370093085 | KMT2C | c.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) | |
7 | g.152148798C>A | CA370093087 | KMT2C | c.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) | |
7 | g.152148798C= | CA1752986356 | KMT2C | c.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=) | |
7 | g.152148798C>G | CA4578666 | KMT2C | c.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 |
7 | g.152148798C>T | CA370093089 | KMT2C | c.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 |
7 | g.152148799C>A | CA370093090 | KMT2C | c.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) | |
7 | g.152148799C>G | CA370093092 | KMT2C | c.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) | |
7 | g.152148799C>T | CA458884737 | KMT2C | c.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=) | |
7 | g.152148800T>A | CA370093094 | KMT2C | c.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) | |
7 | g.152148800T>C | CA370093096 | KMT2C | c.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) | |
7 | g.152148800T>G | CA370093093 | KMT2C | c.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 |
7 | g.152148800T= | CA1752986365 | KMT2C | c.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=) | |
7 | g.152148801C>A | CA370093098 | KMT2C | c.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) | |
7 | g.152148801C= | CA1752986370 | KMT2C | c.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=) | |
7 | g.152148801C>G | CA370093100 | KMT2C | c.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) | |
7 | g.152148801C>T | CA370093101 | KMT2C | c.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 |
7 | g.152148802A>C | CA370093102 | KMT2C | c.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) | |
7 | g.152148802A>G | CA458884742 | KMT2C | c.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=) | |
7 | g.152148802A>T | CA370093103 | KMT2C | c.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) | |
7 | g.152148803C>A | CA370093105 | KMT2C | c.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) | |
7 | g.152148803C>G | CA370093107 | KMT2C | c.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) | |
7 | g.152148803C>T | CA370093108 | KMT2C | c.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) | |
7 | g.152148804A= | CA1752986373 | KMT2C | c.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=) | |
7 | g.152148804A>C | CA370093110 | KMT2C | c.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 |
7 | g.152148804A>G | CA370093111 | KMT2C | c.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) | |
7 | g.152148804A>T | CA370093113 | KMT2C | c.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) | |
7 | g.152148805dup | CA2579070418 | KMT2C | c.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) | |
7 | g.152148805A= | CA1752986376 | KMT2C | c.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=) | |
7 | g.152148805A>C | CA458884749 | KMT2C | c.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 |
7 | g.152148805A>G | CA4578667 | KMT2C | c.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 |
7 | g.152148805A>T | CA458884750 | KMT2C | c.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=) | |
7 | g.152148806G>A | CA370093117 | KMT2C | c.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 |
7 | g.152148806G>C | CA370093118 | KMT2C | c.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) | |
7 | g.152148806G>T | CA370093116 | KMT2C | c.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) | |
7 | g.152148807G>A | CA4578668 | KMT2C | c.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 |
7 | g.152148807G>C | CA370093119 | KMT2C | c.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) | |
7 | g.152148807G= | CA1752986377 | KMT2C | c.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=) | |
7 | g.152148807G>T | CA370093121 | KMT2C | c.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 |
7 | g.152148808T>A | CA458884757 | KMT2C | c.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=) | |
7 | g.152148808T>C | CA458884758 | KMT2C | c.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=) | |
7 | g.152148808T>G | CA458884760 | KMT2C | c.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=) | |
7 | g.152148809G>A | CA370093122 | KMT2C | c.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 |
7 | g.152148809G>C | CA370093124 | KMT2C | c.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) | |
7 | g.152148809G>T | CA370093125 | KMT2C | c.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) | |
7 | g.152148810G>A | CA16605296 | KMT2C | c.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 |
7 | g.152148810G>C | CA370093127 | KMT2C | c.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 |
7 | g.152148810G= | CA1752986383 | KMT2C | c.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=) | |
7 | g.152148810G>T | CA370093129 | KMT2C | c.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) | |
7 | g.152148811T>A | CA370093131 | KMT2C | c.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) | |
7 | g.152148811T>C | CA458884767 | KMT2C | c.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=) | |
7 | g.152148811T>G | CA370093132 | KMT2C | c.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) | |
7 | g.152148812T>A | CA370093133 | KMT2C | c.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) | |
7 | g.152148812T>C | CA370093134 | KMT2C | c.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) | |
7 | g.152148812T>G | CA370093136 | KMT2C | c.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) | |
7 | g.152148813T>A | CA370093138 | KMT2C | c.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) | |
7 | g.152148813T>C | CA370093140 | KMT2C | c.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 |
7 | g.152148813T>G | CA370093139 | KMT2C | c.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 |
7 | g.152148813T= | CA1752986392 | KMT2C | c.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=) | |
7 | g.152148814A>C | CA370093142 | KMT2C | c.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 |
7 | g.152148814A>G | CA458884775 | KMT2C | c.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=) | |
7 | g.152148814A>T | CA370093143 | KMT2C | c.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) | |
7 | g.152148815A>C | CA370093145 | KMT2C | c.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) | |
7 | g.152148815A>G | CA370093148 | KMT2C | c.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) | |
7 | g.152148815A>T | CA370093147 | KMT2C | c.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) | |
7 | g.152148816A>C | CA370093149 | KMT2C | c.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) | |
7 | g.152148816A>G | CA370093150 | KMT2C | c.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) | |
7 | g.152148816A>T | CA370093152 | KMT2C | c.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) | |
7 | g.152148817T>A | CA458884786 | KMT2C | c.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=) | |
7 | g.152148817T>C | CA458884783 | KMT2C | c.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=) | |
7 | g.152148817T>G | CA458884781 | KMT2C | c.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=) | |
7 | g.152148818G>A | CA370093154 | KMT2C | c.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) | |
7 | g.152148818G>C | CA370093156 | KMT2C | c.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) | |
7 | g.152148818G= | CA1752986400 | KMT2C | c.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=) | |
7 | g.152148818G>T | CA4578669 | KMT2C | c.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 |
7 | g.152148819T>A | CA370093158 | KMT2C | c.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 |
7 | g.152148819T>C | CA370093160 | KMT2C | c.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) | |
7 | g.152148819T>G | CA370093161 | KMT2C | c.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) | |
7 | g.152148820C>A | CA458884792 | KMT2C | c.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=) | |
7 | g.152148820C= | CA1752986407 | KMT2C | c.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=) | |
7 | g.152148820C>G | CA169220866 | KMT2C | c.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 |
7 | g.152148820C>T | CA458884795 | KMT2C | c.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 |
7 | g.152148821C>A | CA370093163 | KMT2C | c.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 |
7 | g.152148821C>G | CA370093164 | KMT2C | c.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) | |
7 | g.152148821C>T | CA370093165 | KMT2C | c.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 |
7 | g.152148822C>A | CA370093169 | KMT2C | c.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) | |
7 | g.152148822C= | CA1752986413 | KMT2C | c.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=) | |
7 | g.152148822C>G | CA370093167 | KMT2C | c.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) | |
7 | g.152148822C>T | CA4578670 | KMT2C | c.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 |
7 | g.152148823C>A | CA370093171 | KMT2C | c.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) | |
7 | g.152148823C>G | CA370093172 | KMT2C | c.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) | |
7 | g.152148823C>T | CA458884802 | KMT2C | c.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 |
7 | g.152148824T>A | CA370093174 | KMT2C | c.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) | |
7 | g.152148824T>C | CA370093175 | KMT2C | c.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 |
7 | g.152148824T>G | CA370093177 | KMT2C | c.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) | |
7 | g.152148825T>A | CA370093178 | KMT2C | c.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) | |
7 | g.152148825T>C | CA370093179 | KMT2C | c.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 |
7 | g.152148825T>G | CA370093180 | KMT2C | c.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 |
7 | g.152148826A>C | CA458884806 | KMT2C | c.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=) | |
7 | g.152148826A>G | CA458884808 | KMT2C | c.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=) | |
7 | g.152148826A>T | CA458884809 | KMT2C | c.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=) | |
7 | g.152148827G>A | CA370093181 | KMT2C | c.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) | |
7 | g.152148827G>C | CA370093183 | KMT2C | c.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 |
7 | g.152148827G= | CA1752986419 | KMT2C | c.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=) | |
7 | g.152148827G>T | CA370093185 | KMT2C | c.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) | |
7 | g.152148827_152148828delinsAA | CA645565077 | KMT2C | c.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 |
7 | g.152148828G>A | CA370093189 | KMT2C | c.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 |
7 | g.152148828G>C | CA370093188 | KMT2C | c.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) | |
7 | g.152148828G= | CA1752986423 | KMT2C | c.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=) | |
7 | g.152148828G>T | CA370093186 | KMT2C | c.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) | |
7 | g.152148829G>A | CA458884821 | KMT2C | c.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 |
7 | g.152148829G>C | CA370093191 | KMT2C | c.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) | |
7 | g.152148829G>T | CA458884823 | KMT2C | c.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=) | |
7 | g.152148830A= | CA1752986427 | KMT2C | c.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=) | |
7 | g.152148830A>C | CA370093192 | KMT2C | c.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) | |
7 | g.152148830A>G | CA370093193 | KMT2C | c.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) | |
7 | g.152148830A>T | CA370093195 | KMT2C | c.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 |
7 | g.152148831T>A | CA370093196 | KMT2C | c.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) | |
7 | g.152148831T>C | CA370093198 | KMT2C | c.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 |
7 | g.152148831T>G | CA370093199 | KMT2C | c.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) | |
7 | g.152148832T>A | CA458884829 | KMT2C | c.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=) | |
7 | g.152148832T>C | CA458884830 | KMT2C | c.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=) | |
7 | g.152148832T>G | CA458884831 | KMT2C | c.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=) | |
7 | g.152148833A>C | CA370093201 | KMT2C | c.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) | |
7 | g.152148833A>G | CA370093204 | KMT2C | c.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 |
7 | g.152148833A>T | CA370093203 | KMT2C | c.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) | |
7 | g.152148834C>A | CA4578672 | KMT2C | c.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 |
7 | g.152148834C= | CA1752986435 | KMT2C | c.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=) | |
7 | g.152148834C>G | CA370093207 | KMT2C | c.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) | |
7 | g.152148834C>T | CA4578671 | KMT2C | c.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 |
7 | g.152148835A>C | CA370093209 | KMT2C | c.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) | |
7 | g.152148835A>G | CA458884836 | KMT2C | c.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=) | |
7 | g.152148835A>T | CA458884838 | KMT2C | c.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=) | |
7 | g.152148836A= | CA1752986438 | KMT2C | c.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=) | |
7 | g.152148836A>C | CA370093210 | KMT2C | c.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 |
7 | g.152148836A>G | CA4578673 | KMT2C | c.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 |
7 | g.152148836A>T | CA370093212 | KMT2C | c.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) | |
7 | g.152148837T>A | CA370093213 | KMT2C | c.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) | |
7 | g.152148837T>C | CA370093214 | KMT2C | c.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 |
7 | g.152148837T>G | CA370093216 | KMT2C | c.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) | |
7 | g.152148838A>C | CA370093217 | KMT2C | c.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) | |
7 | g.152148838A>G | CA458884840 | KMT2C | c.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=) | |
7 | g.152148838A>T | CA370093218 | KMT2C | c.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) | |
7 | g.152148839T>A | CA370093221 | KMT2C | c.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) | |
7 | g.152148839T>C | CA370093222 | KMT2C | c.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 |
7 | g.152148839T>G | CA370093224 | KMT2C | c.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) | |
7 | g.152148840G>A | CA370093225 | KMT2C | c.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) | |
7 | g.152148840G>C | CA370093226 | KMT2C | c.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) | |
7 | g.152148840G>T | CA370093227 | KMT2C | c.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) | |
7 | g.152148841A>C | CA370093229 | KMT2C | c.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) | |
7 | g.152148841A>G | CA458884847 | KMT2C | c.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=) | |
7 | g.152148841A>T | CA458884848 | KMT2C | c.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=) | |
7 | g.152148842A>C | CA370093233 | KMT2C | c.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) | |
7 | g.152148842A>G | CA370093230 | KMT2C | c.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) | |
7 | g.152148842A>T | CA370093232 | KMT2C | c.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) | |
7 | g.152148843T>A | CA370093234 | KMT2C | c.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) | |
7 | g.152148843T>C | CA370093235 | KMT2C | c.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 |
7 | g.152148843T>G | CA370093237 | KMT2C | c.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) | |
7 | g.152148844G>A | CA458884853 | KMT2C | c.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=) | |
7 | g.152148844G>C | CA370093239 | KMT2C | c.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 |
7 | g.152148844G>T | CA370093241 | KMT2C | c.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) | |
7 | g.152148845C>A | CA370093242 | KMT2C | c.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) | |
7 | g.152148845C= | CA1752986444 | KMT2C | c.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=) | |
7 | g.152148845C>G | CA370093243 | KMT2C | c.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 |
7 | g.152148845C>T | CA370093245 | KMT2C | c.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 |
7 | g.152148846T>A | CA370093247 | KMT2C | c.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 |
7 | g.152148846T>C | CA370093248 | KMT2C | c.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) | |
7 | g.152148846T>G | CA370093249 | KMT2C | c.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) | |
7 | g.152148847C>A | CA370093254 | KMT2C | c.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) | |
7 | g.152148847C>G | CA370093252 | KMT2C | c.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) | |
7 | g.152148847C>T | CA370093250 | KMT2C | c.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 |
7 | g.152148848C>A | CA370093255 | KMT2C | c.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) | |
7 | g.152148848C>G | CA370093256 | KMT2C | c.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) | |
7 | g.152148848C>T | CA370093258 | KMT2C | c.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) | |
7 | g.152148849A>C | CA370093259 | KMT2C | c.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) | |
7 | g.152148849A>G | CA370093261 | KMT2C | c.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 |
7 | g.152148849A>T | CA370093263 | KMT2C | c.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 |
7 | g.152148850C>A | CA370093264 | KMT2C | c.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) | |
7 | g.152148850C>G | CA370093265 | KMT2C | c.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 |
7 | g.152148850C>T | CA458884860 | KMT2C | c.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=) | |
7 | g.152148851T>A | CA370093267 | KMT2C | c.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) | |
7 | g.152148851T>C | CA370093268 | KMT2C | c.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) | |
7 | g.152148851T>G | CA370093269 | KMT2C | c.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) | |
7 | g.152148852T>A | CA370093271 | KMT2C | c.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) | |
7 | g.152148852T>C | CA370093272 | KMT2C | c.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) | |
7 | g.152148852T>G | CA370093273 | KMT2C | c.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) | |
7 | g.152148853C>A | CA370093274 | KMT2C | c.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) | |
7 | g.152148853C= | CA1752986447 | KMT2C | c.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=) | |
7 | g.152148853C>G | CA370093275 | KMT2C | c.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) | |
7 | g.152148853C>T | CA4578674 | KMT2C | c.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 |
7 | g.152148854T>A | CA370093276 | KMT2C | c.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) | |
7 | g.152148854T>C | CA370093277 | KMT2C | c.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) | |
7 | g.152148854T>G | CA370093278 | KMT2C | c.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) | |
7 | g.152148855T>A | CA370093279 | KMT2C | c.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) | |
7 | g.152148855T>C | CA370093281 | KMT2C | c.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) | |
7 | g.152148855T>G | CA370093282 | KMT2C | c.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 |
7 | g.152148856C>A | CA370093283 | KMT2C | c.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) | |
7 | g.152148856C>G | CA370093284 | KMT2C | c.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 |
7 | g.152148856C>T | CA370093286 | KMT2C | c.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 |
7 | g.152148857C>A | CA370093288 | KMT2C | c.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) | |
7 | g.152148857C>G | CA370093290 | KMT2C | c.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) | |
7 | g.152148857C>T | CA370093291 | KMT2C | c.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) | |
7 | g.152148858A>C | CA370093296 | KMT2C | c.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) | |
7 | g.152148858A>G | CA370093292 | KMT2C | c.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) | |
7 | g.152148858A>T | CA370093294 | KMT2C | c.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) | |
7 | g.152148859T>A | CA370093297 | KMT2C | c.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) | |
7 | g.152148859T>C | CA458884887 | KMT2C | c.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 |
7 | g.152148859T>G | CA370093298 | KMT2C | c.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) | |
7 | g.152148859T= | CA1752986454 | KMT2C | c.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=) | |
7 | g.152148860T>A | CA370093300 | KMT2C | c.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) | |
7 | g.152148860T>C | CA370093301 | KMT2C | c.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) | |
7 | g.152148860T>G | CA370093302 | KMT2C | c.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) | |
7 | g.152148861T>A | CA370093304 | KMT2C | c.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 |
7 | g.152148861T>C | CA370093306 | KMT2C | c.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) | |
7 | g.152148861T>G | CA370093307 | KMT2C | c.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) | |
7 | g.152148862C>A | CA370093309 | KMT2C | c.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 |
7 | g.152148862C>G | CA370093311 | KMT2C | c.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) | |
7 | g.152148862C>T | CA370093312 | KMT2C | c.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) | |
7 | g.152148863A>C | CA370093313 | KMT2C | c.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) | |
7 | g.152148863A>G | CA370093315 | KMT2C | c.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) | |
7 | g.152148863A>T | CA370093314 | KMT2C | c.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) | |
7 | g.152148864T>A | CA370093317 | KMT2C | c.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) | |
7 | g.152148864T>C | CA370093320 | KMT2C | c.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) | |
7 | g.152148864T>G | CA370093319 | KMT2C | c.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) | |
7 | g.152148865T>A | CA458884901 | KMT2C | c.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=) | |
7 | g.152148865T>C | CA458884900 | KMT2C | c.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 |
7 | g.152148865T>G | CA458884902 | KMT2C | c.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=) | |
7 | g.152148865T= | CA1752986458 | KMT2C | c.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=) | |
7 | g.152148866C>A | CA370093322 | KMT2C | c.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) | |
7 | g.152148866C= | CA1752986463 | KMT2C | c.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=) | |
7 | g.152148866C>G | CA370093323 | KMT2C | c.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) | |
7 | g.152148866C>T | CA4578675 | KMT2C | c.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 |
7 | g.152148867C>A | CA370093326 | KMT2C | c.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) | |
7 | g.152148867C>G | CA370093327 | KMT2C | c.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) | |
7 | g.152148867C>T | CA370093328 | KMT2C | c.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 |
7 | g.152148870_152148871del | CA2685721884 | KMT2C | c.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 |
7 | g.152148868T>A | CA370093330 | KMT2C | c.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) | |
7 | g.152148868T>C | CA458884909 | KMT2C | c.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 |
7 | g.152148868T>G | CA370093332 | KMT2C | c.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 |
7 | g.152148869C>A | CA370093334 | KMT2C | c.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) | |
7 | g.152148869C>G | CA370093335 | KMT2C | c.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) | |
7 | g.152148869C>T | CA370093336 | KMT2C | c.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 |
7 | g.152148870T>A | CA370093338 | KMT2C | c.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) | |
7 | g.152148870T>C | CA370093339 | KMT2C | c.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 |
7 | g.152148870T>G | CA458884922 | KMT2C | c.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=) | |
7 | g.152148870T= | CA1752986467 | KMT2C | c.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=) | |
7 | g.152148871C>A | CA370093341 | KMT2C | c.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) | |
7 | g.152148871C>G | CA370093344 | KMT2C | c.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 |
7 | g.152148871C>T | CA370093343 | KMT2C | c.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) | |
7 | g.152148872C>A | CA4578676 | KMT2C | c.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 |
7 | g.152148872C= | CA1752986482 | KMT2C | c.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=) | |
7 | g.152148872C>G | CA370093346 | KMT2C | c.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) | |
7 | g.152148872C>T | CA370093348 | KMT2C | c.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) | |
7 | g.152148873A= | CA1752986485 | KMT2C | c.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=) | |
7 | g.152148873A>C | CA4578677 | KMT2C | c.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 |
7 | g.152148873A>G | CA370093350 | KMT2C | c.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) | |
7 | g.152148873A>T | CA370093352 | KMT2C | c.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) | |
7 | g.152148874T>A | CA370093353 | KMT2C | c.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) | |
7 | g.152148874T>C | CA458884931 | KMT2C | c.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=) | |
7 | g.152148874T>G | CA370093355 | KMT2C | c.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) | |
7 | g.152148879dup | CA645565079 | KMT2C | c.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 |
7 | g.152148879del | CA645565080 | KMT2C | c.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 |
7 | g.152148874_152148875insA | CA458884936 | KMT2C | c.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) | |
7 | g.152148875T>A | CA370093357 | KMT2C | c.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) | |
7 | g.152148875T>C | CA370093358 | KMT2C | c.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) | |
7 | g.152148875T>G | CA370093359 | KMT2C | c.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) | |
7 | g.152148876T>A | CA370093363 | KMT2C | c.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) | |
7 | g.152148876T>C | CA370093361 | KMT2C | c.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) | |
7 | g.152148876T>G | CA370093360 | KMT2C | c.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) | |
7 | g.152148877T>A | CA370093366 | KMT2C | c.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) | |
7 | g.152148877T>C | CA458884942 | KMT2C | c.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=) | |
7 | g.152148877T>G | CA370093364 | KMT2C | c.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) | |
7 | g.152148878T>A | CA370093368 | KMT2C | c.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) | |
7 | g.152148878T>C | CA370093369 | KMT2C | c.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) | |
7 | g.152148878T>G | CA370093370 | KMT2C | c.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) | |
7 | g.152148879T>A | CA370093372 | KMT2C | c.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) | |
7 | g.152148879T>C | CA370093373 | KMT2C | c.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) | |
7 | g.152148879T>G | CA370093375 | KMT2C | c.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) | |
7 | g.152148880A= | CA1752986491 | KMT2C | c.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=) | |
7 | g.152148880A>C | CA370093376 | KMT2C | c.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 |
7 | g.152148880A>G | CA458884946 | KMT2C | c.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=) | |
7 | g.152148880A>T | CA370093378 | KMT2C | c.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) | |
7 | g.152148880dup | CA645565081 | KMT2C | c.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 |
7 | g.152148880_152148884del | CA2512222109 | KMT2C | c.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) | |
7 | g.152148881T>A | CA370093379 | KMT2C | c.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 |
7 | g.152148881T>C | CA4578678 | KMT2C | c.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 |
7 | g.152148881T>G | CA370093381 | KMT2C | c.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) | |
7 | g.152148881T= | CA1752986493 | KMT2C | c.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=) | |
7 | g.152148882dup | CA458884951 | KMT2C | c.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) | |
7 | g.152148882T>A | CA370093385 | KMT2C | c.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) | |
7 | g.152148882T>C | CA370093386 | KMT2C | c.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 |
7 | g.152148882T>G | CA370093383 | KMT2C | c.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) | |
7 | g.152148882T= | CA1752986495 | KMT2C | c.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=) | |
7 | g.152148883G>A | CA458884959 | KMT2C | c.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 |
7 | g.152148883G>C | CA458884960 | KMT2C | c.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=) | |
7 | g.152148883G>T | CA458884961 | KMT2C | c.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=) | |
7 | g.152148884A>C | CA370093388 | KMT2C | c.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) | |
7 | g.152148884A>G | CA370093389 | KMT2C | c.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 |
7 | g.152148884A>T | CA370093391 | KMT2C | c.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 |