Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.152148679T>A | CA458884954 | KMT2C | c.1436A>T n.2380A>T c.13419A>T (p.Pro4473=) n.2548A>T n.8440A>T c.3821A>T c.10758A>T (p.Pro3586=) n.4878A>T c.3893A>T n.2014A>T n.1964A>T c.1665A>T (p.Pro555=) c.8145A>T (p.Pro2715=) n.6A>T c.13248A>T (p.Pro4416=) c.9035A>T c.3890A>T c.3824A>T n.7959A>T c.8148A>T (p.Pro2716=) c.12813A>T (p.Pro4271=) c.3825A>T n.2263A>T c.5929A>T c.3099A>T (p.Pro1033=) n.11130A>T c.*10768A>T (n.*10768A>T) c.13464A>T (p.Pro4488=) c.13461A>T (p.Pro4487=) c.13299A>T (p.Pro4433=) c.13392A>T (p.Pro4464=) c.13296A>T (p.Pro4432=) c.13416A>T (p.Pro4472=) c.13344A>T (p.Pro4448=) c.13311A>T (p.Pro4437=) c.13227A>T (p.Pro4409=) c.12549A>T (p.Pro4183=) c.11010A>T (p.Pro3670=) c.13431A>T (p.Pro4477=) c.13413A>T (p.Pro4471=) c.13389A>T (p.Pro4463=) c.13317A>T (p.Pro4439=) c.13281A>T (p.Pro4427=) c.10134A>T (p.Pro3378=) c.9738A>T (p.Pro3246=) | |
7 | g.152148679T>C | CA458884956 | KMT2C | c.1436A>G n.2380A>G c.13419A>G (p.Pro4473=) n.2548A>G n.8440A>G c.3821A>G c.10758A>G (p.Pro3586=) n.4878A>G c.3893A>G n.2014A>G n.1964A>G c.1665A>G (p.Pro555=) c.8145A>G (p.Pro2715=) n.6A>G c.13248A>G (p.Pro4416=) c.9035A>G c.3890A>G c.3824A>G n.7959A>G c.8148A>G (p.Pro2716=) c.12813A>G (p.Pro4271=) c.3825A>G n.2263A>G c.5929A>G c.3099A>G (p.Pro1033=) n.11130A>G c.*10768A>G (n.*10768A>G) c.13464A>G (p.Pro4488=) c.13461A>G (p.Pro4487=) c.13299A>G (p.Pro4433=) c.13392A>G (p.Pro4464=) c.13296A>G (p.Pro4432=) c.13416A>G (p.Pro4472=) c.13344A>G (p.Pro4448=) c.13311A>G (p.Pro4437=) c.13227A>G (p.Pro4409=) c.12549A>G (p.Pro4183=) c.11010A>G (p.Pro3670=) c.13431A>G (p.Pro4477=) c.13413A>G (p.Pro4471=) c.13389A>G (p.Pro4463=) c.13317A>G (p.Pro4439=) c.13281A>G (p.Pro4427=) c.10134A>G (p.Pro3378=) c.9738A>G (p.Pro3246=) | |
7 | g.152148679T>G | CA458884957 | KMT2C | c.1436A>C n.2380A>C c.13419A>C (p.Pro4473=) n.2548A>C n.8440A>C c.3821A>C c.10758A>C (p.Pro3586=) n.4878A>C c.3893A>C n.2014A>C n.1964A>C c.1665A>C (p.Pro555=) c.8145A>C (p.Pro2715=) n.6A>C c.13248A>C (p.Pro4416=) c.9035A>C c.3890A>C c.3824A>C n.7959A>C c.8148A>C (p.Pro2716=) c.12813A>C (p.Pro4271=) c.3825A>C n.2263A>C c.5929A>C c.3099A>C (p.Pro1033=) n.11130A>C c.*10768A>C (n.*10768A>C) c.13464A>C (p.Pro4488=) c.13461A>C (p.Pro4487=) c.13299A>C (p.Pro4433=) c.13392A>C (p.Pro4464=) c.13296A>C (p.Pro4432=) c.13416A>C (p.Pro4472=) c.13344A>C (p.Pro4448=) c.13311A>C (p.Pro4437=) c.13227A>C (p.Pro4409=) c.12549A>C (p.Pro4183=) c.11010A>C (p.Pro3670=) c.13431A>C (p.Pro4477=) c.13413A>C (p.Pro4471=) c.13389A>C (p.Pro4463=) c.13317A>C (p.Pro4439=) c.13281A>C (p.Pro4427=) c.10134A>C (p.Pro3378=) c.9738A>C (p.Pro3246=) | |
7 | g.152148680G>A | CA370091839 | KMT2C | c.1435C>T n.2379C>T c.13418C>T (p.Pro4473Leu) n.2547C>T n.8439C>T c.3820C>T c.10757C>T (p.Pro3586Leu) n.4877C>T c.3892C>T n.2013C>T n.1963C>T c.1664C>T (p.Pro555Leu) c.8144C>T (p.Pro2715Leu) n.5C>T c.13247C>T (p.Pro4416Leu) c.9034C>T c.3889C>T c.3823C>T n.7958C>T c.8147C>T (p.Pro2716Leu) c.12812C>T (p.Pro4271Leu) c.3824C>T n.2262C>T c.5928C>T c.3098C>T (p.Pro1033Leu) n.11129C>T c.*10767C>T (n.*10767C>T) c.13463C>T (p.Pro4488Leu) c.13460C>T (p.Pro4487Leu) c.13298C>T (p.Pro4433Leu) c.13391C>T (p.Pro4464Leu) c.13295C>T (p.Pro4432Leu) c.13415C>T (p.Pro4472Leu) c.13343C>T (p.Pro4448Leu) c.13310C>T (p.Pro4437Leu) c.13226C>T (p.Pro4409Leu) c.12548C>T (p.Pro4183Leu) c.11009C>T (p.Pro3670Leu) c.13430C>T (p.Pro4477Leu) c.13412C>T (p.Pro4471Leu) c.13388C>T (p.Pro4463Leu) c.13316C>T (p.Pro4439Leu) c.13280C>T (p.Pro4427Leu) c.10133C>T (p.Pro3378Leu) c.9737C>T (p.Pro3246Leu) | |
7 | g.152148680G>C | CA370091840 | KMT2C | c.1435C>G n.2379C>G c.13418C>G (p.Pro4473Arg) n.2547C>G n.8439C>G c.3820C>G c.10757C>G (p.Pro3586Arg) n.4877C>G c.3892C>G n.2013C>G n.1963C>G c.1664C>G (p.Pro555Arg) c.8144C>G (p.Pro2715Arg) n.5C>G c.13247C>G (p.Pro4416Arg) c.9034C>G c.3889C>G c.3823C>G n.7958C>G c.8147C>G (p.Pro2716Arg) c.12812C>G (p.Pro4271Arg) c.3824C>G n.2262C>G c.5928C>G c.3098C>G (p.Pro1033Arg) n.11129C>G c.*10767C>G (n.*10767C>G) c.13463C>G (p.Pro4488Arg) c.13460C>G (p.Pro4487Arg) c.13298C>G (p.Pro4433Arg) c.13391C>G (p.Pro4464Arg) c.13295C>G (p.Pro4432Arg) c.13415C>G (p.Pro4472Arg) c.13343C>G (p.Pro4448Arg) c.13310C>G (p.Pro4437Arg) c.13226C>G (p.Pro4409Arg) c.12548C>G (p.Pro4183Arg) c.11009C>G (p.Pro3670Arg) c.13430C>G (p.Pro4477Arg) c.13412C>G (p.Pro4471Arg) c.13388C>G (p.Pro4463Arg) c.13316C>G (p.Pro4439Arg) c.13280C>G (p.Pro4427Arg) c.10133C>G (p.Pro3378Arg) c.9737C>G (p.Pro3246Arg) | |
7 | g.152148680G>T | CA370091841 | KMT2C | c.1435C>A n.2379C>A c.13418C>A (p.Pro4473Gln) n.2547C>A n.8439C>A c.3820C>A c.10757C>A (p.Pro3586Gln) n.4877C>A c.3892C>A n.2013C>A n.1963C>A c.1664C>A (p.Pro555Gln) c.8144C>A (p.Pro2715Gln) n.5C>A c.13247C>A (p.Pro4416Gln) c.9034C>A c.3889C>A c.3823C>A n.7958C>A c.8147C>A (p.Pro2716Gln) c.12812C>A (p.Pro4271Gln) c.3824C>A n.2262C>A c.5928C>A c.3098C>A (p.Pro1033Gln) n.11129C>A c.*10767C>A (n.*10767C>A) c.13463C>A (p.Pro4488Gln) c.13460C>A (p.Pro4487Gln) c.13298C>A (p.Pro4433Gln) c.13391C>A (p.Pro4464Gln) c.13295C>A (p.Pro4432Gln) c.13415C>A (p.Pro4472Gln) c.13343C>A (p.Pro4448Gln) c.13310C>A (p.Pro4437Gln) c.13226C>A (p.Pro4409Gln) c.12548C>A (p.Pro4183Gln) c.11009C>A (p.Pro3670Gln) c.13430C>A (p.Pro4477Gln) c.13412C>A (p.Pro4471Gln) c.13388C>A (p.Pro4463Gln) c.13316C>A (p.Pro4439Gln) c.13280C>A (p.Pro4427Gln) c.10133C>A (p.Pro3378Gln) c.9737C>A (p.Pro3246Gln) | |
7 | g.152148681G>A | CA160797 | KMT2C | c.1434C>T n.2378C>T c.13417C>T (p.Pro4473Ser) n.2546C>T n.8438C>T c.3819C>T c.10756C>T (p.Pro3586Ser) n.4876C>T c.3891C>T n.2012C>T n.1962C>T c.1663C>T (p.Pro555Ser) c.8143C>T (p.Pro2715Ser) n.4C>T c.13246C>T (p.Pro4416Ser) c.9033C>T c.3888C>T c.3822C>T n.7957C>T c.8146C>T (p.Pro2716Ser) c.12811C>T (p.Pro4271Ser) c.3823C>T n.2261C>T c.5927C>T c.3097C>T (p.Pro1033Ser) n.11128C>T c.*10766C>T (n.*10766C>T) c.13462C>T (p.Pro4488Ser) c.13459C>T (p.Pro4487Ser) c.13297C>T (p.Pro4433Ser) c.13390C>T (p.Pro4464Ser) c.13294C>T (p.Pro4432Ser) c.13414C>T (p.Pro4472Ser) c.13342C>T (p.Pro4448Ser) c.13309C>T (p.Pro4437Ser) c.13225C>T (p.Pro4409Ser) c.12547C>T (p.Pro4183Ser) c.11008C>T (p.Pro3670Ser) c.13429C>T (p.Pro4477Ser) c.13411C>T (p.Pro4471Ser) c.13387C>T (p.Pro4463Ser) c.13315C>T (p.Pro4439Ser) c.13279C>T (p.Pro4427Ser) c.10132C>T (p.Pro3378Ser) c.9736C>T (p.Pro3246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148681G>C | CA370091842 | KMT2C | c.1434C>G n.2378C>G c.13417C>G (p.Pro4473Ala) n.2546C>G n.8438C>G c.3819C>G c.10756C>G (p.Pro3586Ala) n.4876C>G c.3891C>G n.2012C>G n.1962C>G c.1663C>G (p.Pro555Ala) c.8143C>G (p.Pro2715Ala) n.4C>G c.13246C>G (p.Pro4416Ala) c.9033C>G c.3888C>G c.3822C>G n.7957C>G c.8146C>G (p.Pro2716Ala) c.12811C>G (p.Pro4271Ala) c.3823C>G n.2261C>G c.5927C>G c.3097C>G (p.Pro1033Ala) n.11128C>G c.*10766C>G (n.*10766C>G) c.13462C>G (p.Pro4488Ala) c.13459C>G (p.Pro4487Ala) c.13297C>G (p.Pro4433Ala) c.13390C>G (p.Pro4464Ala) c.13294C>G (p.Pro4432Ala) c.13414C>G (p.Pro4472Ala) c.13342C>G (p.Pro4448Ala) c.13309C>G (p.Pro4437Ala) c.13225C>G (p.Pro4409Ala) c.12547C>G (p.Pro4183Ala) c.11008C>G (p.Pro3670Ala) c.13429C>G (p.Pro4477Ala) c.13411C>G (p.Pro4471Ala) c.13387C>G (p.Pro4463Ala) c.13315C>G (p.Pro4439Ala) c.13279C>G (p.Pro4427Ala) c.10132C>G (p.Pro3378Ala) c.9736C>G (p.Pro3246Ala) | gnomAD v4 |
7 | g.152148681G= | CA1752986150 | KMT2C | c.1434C= n.2378C= c.13417C= (p.Pro4473=) n.2546C= n.8438C= c.3819C= c.10756C= (p.Pro3586=) n.4876C= c.3891C= n.2012C= n.1962C= c.1663C= (p.Pro555=) c.8143C= (p.Pro2715=) n.4C= c.13246C= (p.Pro4416=) c.9033C= c.3888C= c.3822C= n.7957C= c.8146C= (p.Pro2716=) c.12811C= (p.Pro4271=) c.3823C= n.2261C= c.5927C= c.3097C= (p.Pro1033=) n.11128C= c.*10766C= (n.*10766C=) c.13462C= (p.Pro4488=) c.13459C= (p.Pro4487=) c.13297C= (p.Pro4433=) c.13390C= (p.Pro4464=) c.13294C= (p.Pro4432=) c.13414C= (p.Pro4472=) c.13342C= (p.Pro4448=) c.13309C= (p.Pro4437=) c.13225C= (p.Pro4409=) c.12547C= (p.Pro4183=) c.11008C= (p.Pro3670=) c.13429C= (p.Pro4477=) c.13411C= (p.Pro4471=) c.13387C= (p.Pro4463=) c.13315C= (p.Pro4439=) c.13279C= (p.Pro4427=) c.10132C= (p.Pro3378=) c.9736C= (p.Pro3246=) | |
7 | g.152148681G>T | CA370091844 | KMT2C | c.1434C>A n.2378C>A c.13417C>A (p.Pro4473Thr) n.2546C>A n.8438C>A c.3819C>A c.10756C>A (p.Pro3586Thr) n.4876C>A c.3891C>A n.2012C>A n.1962C>A c.1663C>A (p.Pro555Thr) c.8143C>A (p.Pro2715Thr) n.4C>A c.13246C>A (p.Pro4416Thr) c.9033C>A c.3888C>A c.3822C>A n.7957C>A c.8146C>A (p.Pro2716Thr) c.12811C>A (p.Pro4271Thr) c.3823C>A n.2261C>A c.5927C>A c.3097C>A (p.Pro1033Thr) n.11128C>A c.*10766C>A (n.*10766C>A) c.13462C>A (p.Pro4488Thr) c.13459C>A (p.Pro4487Thr) c.13297C>A (p.Pro4433Thr) c.13390C>A (p.Pro4464Thr) c.13294C>A (p.Pro4432Thr) c.13414C>A (p.Pro4472Thr) c.13342C>A (p.Pro4448Thr) c.13309C>A (p.Pro4437Thr) c.13225C>A (p.Pro4409Thr) c.12547C>A (p.Pro4183Thr) c.11008C>A (p.Pro3670Thr) c.13429C>A (p.Pro4477Thr) c.13411C>A (p.Pro4471Thr) c.13387C>A (p.Pro4463Thr) c.13315C>A (p.Pro4439Thr) c.13279C>A (p.Pro4427Thr) c.10132C>A (p.Pro3378Thr) c.9736C>A (p.Pro3246Thr) | |
7 | g.152148682T>A | CA458884964 | KMT2C | c.1433A>T n.2377A>T c.13416A>T (p.Gly4472=) n.2545A>T n.8437A>T c.3818A>T c.10755A>T (p.Gly3585=) n.4875A>T c.3890A>T n.2011A>T n.1961A>T c.1662A>T (p.Gly554=) c.8142A>T (p.Gly2714=) n.3A>T c.13245A>T (p.Gly4415=) c.9032A>T c.3887A>T c.3821A>T n.7956A>T c.8145A>T (p.Gly2715=) c.12810A>T (p.Gly4270=) c.3822A>T n.2260A>T c.5926A>T c.3096A>T (p.Gly1032=) n.11127A>T c.*10765A>T (n.*10765A>T) c.13461A>T (p.Gly4487=) c.13458A>T (p.Gly4486=) c.13296A>T (p.Gly4432=) c.13389A>T (p.Gly4463=) c.13293A>T (p.Gly4431=) c.13413A>T (p.Gly4471=) c.13341A>T (p.Gly4447=) c.13308A>T (p.Gly4436=) c.13224A>T (p.Gly4408=) c.12546A>T (p.Gly4182=) c.11007A>T (p.Gly3669=) c.13428A>T (p.Gly4476=) c.13410A>T (p.Gly4470=) c.13386A>T (p.Gly4462=) c.13314A>T (p.Gly4438=) c.13278A>T (p.Gly4426=) c.10131A>T (p.Gly3377=) c.9735A>T (p.Gly3245=) | |
7 | g.152148682T>C | CA458884967 | KMT2C | c.1433A>G n.2377A>G c.13416A>G (p.Gly4472=) n.2545A>G n.8437A>G c.3818A>G c.10755A>G (p.Gly3585=) n.4875A>G c.3890A>G n.2011A>G n.1961A>G c.1662A>G (p.Gly554=) c.8142A>G (p.Gly2714=) n.3A>G c.13245A>G (p.Gly4415=) c.9032A>G c.3887A>G c.3821A>G n.7956A>G c.8145A>G (p.Gly2715=) c.12810A>G (p.Gly4270=) c.3822A>G n.2260A>G c.5926A>G c.3096A>G (p.Gly1032=) n.11127A>G c.*10765A>G (n.*10765A>G) c.13461A>G (p.Gly4487=) c.13458A>G (p.Gly4486=) c.13296A>G (p.Gly4432=) c.13389A>G (p.Gly4463=) c.13293A>G (p.Gly4431=) c.13413A>G (p.Gly4471=) c.13341A>G (p.Gly4447=) c.13308A>G (p.Gly4436=) c.13224A>G (p.Gly4408=) c.12546A>G (p.Gly4182=) c.11007A>G (p.Gly3669=) c.13428A>G (p.Gly4476=) c.13410A>G (p.Gly4470=) c.13386A>G (p.Gly4462=) c.13314A>G (p.Gly4438=) c.13278A>G (p.Gly4426=) c.10131A>G (p.Gly3377=) c.9735A>G (p.Gly3245=) | |
7 | g.152148682T>G | CA458884968 | KMT2C | c.1433A>C n.2377A>C c.13416A>C (p.Gly4472=) n.2545A>C n.8437A>C c.3818A>C c.10755A>C (p.Gly3585=) n.4875A>C c.3890A>C n.2011A>C n.1961A>C c.1662A>C (p.Gly554=) c.8142A>C (p.Gly2714=) n.3A>C c.13245A>C (p.Gly4415=) c.9032A>C c.3887A>C c.3821A>C n.7956A>C c.8145A>C (p.Gly2715=) c.12810A>C (p.Gly4270=) c.3822A>C n.2260A>C c.5926A>C c.3096A>C (p.Gly1032=) n.11127A>C c.*10765A>C (n.*10765A>C) c.13461A>C (p.Gly4487=) c.13458A>C (p.Gly4486=) c.13296A>C (p.Gly4432=) c.13389A>C (p.Gly4463=) c.13293A>C (p.Gly4431=) c.13413A>C (p.Gly4471=) c.13341A>C (p.Gly4447=) c.13308A>C (p.Gly4436=) c.13224A>C (p.Gly4408=) c.12546A>C (p.Gly4182=) c.11007A>C (p.Gly3669=) c.13428A>C (p.Gly4476=) c.13410A>C (p.Gly4470=) c.13386A>C (p.Gly4462=) c.13314A>C (p.Gly4438=) c.13278A>C (p.Gly4426=) c.10131A>C (p.Gly3377=) c.9735A>C (p.Gly3245=) | |
7 | g.152148683C>A | CA370091847 | KMT2C | c.1432G>T n.2376G>T c.13415G>T (p.Gly4472Val) n.2544G>T n.8436G>T c.3817G>T c.10754G>T (p.Gly3585Val) n.4874G>T c.3889G>T n.2010G>T n.1960G>T c.1661G>T (p.Gly554Val) c.8141G>T (p.Gly2714Val) n.2G>T c.13244G>T (p.Gly4415Val) c.9031G>T c.3886G>T c.3820G>T n.7955G>T c.8144G>T (p.Gly2715Val) c.12809G>T (p.Gly4270Val) c.3821G>T n.2259G>T c.5925G>T c.3095G>T (p.Gly1032Val) n.11126G>T c.*10764G>T (n.*10764G>T) c.13460G>T (p.Gly4487Val) c.13457G>T (p.Gly4486Val) c.13295G>T (p.Gly4432Val) c.13388G>T (p.Gly4463Val) c.13292G>T (p.Gly4431Val) c.13412G>T (p.Gly4471Val) c.13340G>T (p.Gly4447Val) c.13307G>T (p.Gly4436Val) c.13223G>T (p.Gly4408Val) c.12545G>T (p.Gly4182Val) c.11006G>T (p.Gly3669Val) c.13427G>T (p.Gly4476Val) c.13409G>T (p.Gly4470Val) c.13385G>T (p.Gly4462Val) c.13313G>T (p.Gly4438Val) c.13277G>T (p.Gly4426Val) c.10130G>T (p.Gly3377Val) c.9734G>T (p.Gly3245Val) | |
7 | g.152148683C>G | CA370091850 | KMT2C | c.1432G>C n.2376G>C c.13415G>C (p.Gly4472Ala) n.2544G>C n.8436G>C c.3817G>C c.10754G>C (p.Gly3585Ala) n.4874G>C c.3889G>C n.2010G>C n.1960G>C c.1661G>C (p.Gly554Ala) c.8141G>C (p.Gly2714Ala) n.2G>C c.13244G>C (p.Gly4415Ala) c.9031G>C c.3886G>C c.3820G>C n.7955G>C c.8144G>C (p.Gly2715Ala) c.12809G>C (p.Gly4270Ala) c.3821G>C n.2259G>C c.5925G>C c.3095G>C (p.Gly1032Ala) n.11126G>C c.*10764G>C (n.*10764G>C) c.13460G>C (p.Gly4487Ala) c.13457G>C (p.Gly4486Ala) c.13295G>C (p.Gly4432Ala) c.13388G>C (p.Gly4463Ala) c.13292G>C (p.Gly4431Ala) c.13412G>C (p.Gly4471Ala) c.13340G>C (p.Gly4447Ala) c.13307G>C (p.Gly4436Ala) c.13223G>C (p.Gly4408Ala) c.12545G>C (p.Gly4182Ala) c.11006G>C (p.Gly3669Ala) c.13427G>C (p.Gly4476Ala) c.13409G>C (p.Gly4470Ala) c.13385G>C (p.Gly4462Ala) c.13313G>C (p.Gly4438Ala) c.13277G>C (p.Gly4426Ala) c.10130G>C (p.Gly3377Ala) c.9734G>C (p.Gly3245Ala) | |
7 | g.152148683C>T | CA370091848 | KMT2C | c.1432G>A n.2376G>A c.13415G>A (p.Gly4472Glu) n.2544G>A n.8436G>A c.3817G>A c.10754G>A (p.Gly3585Glu) n.4874G>A c.3889G>A n.2010G>A n.1960G>A c.1661G>A (p.Gly554Glu) c.8141G>A (p.Gly2714Glu) n.2G>A c.13244G>A (p.Gly4415Glu) c.9031G>A c.3886G>A c.3820G>A n.7955G>A c.8144G>A (p.Gly2715Glu) c.12809G>A (p.Gly4270Glu) c.3821G>A n.2259G>A c.5925G>A c.3095G>A (p.Gly1032Glu) n.11126G>A c.*10764G>A (n.*10764G>A) c.13460G>A (p.Gly4487Glu) c.13457G>A (p.Gly4486Glu) c.13295G>A (p.Gly4432Glu) c.13388G>A (p.Gly4463Glu) c.13292G>A (p.Gly4431Glu) c.13412G>A (p.Gly4471Glu) c.13340G>A (p.Gly4447Glu) c.13307G>A (p.Gly4436Glu) c.13223G>A (p.Gly4408Glu) c.12545G>A (p.Gly4182Glu) c.11006G>A (p.Gly3669Glu) c.13427G>A (p.Gly4476Glu) c.13409G>A (p.Gly4470Glu) c.13385G>A (p.Gly4462Glu) c.13313G>A (p.Gly4438Glu) c.13277G>A (p.Gly4426Glu) c.10130G>A (p.Gly3377Glu) c.9734G>A (p.Gly3245Glu) | dbSNP COSMIC COSMIC |
7 | g.152148684C>A | CA370091852 | KMT2C | c.1431G>T n.2375G>T c.13414G>T (p.Gly4472Ter) n.2543G>T n.8435G>T c.3816G>T c.10753G>T (p.Gly3585Ter) n.4873G>T c.3888G>T n.2009G>T n.1959G>T c.1660G>T (p.Gly554Ter) c.8140G>T (p.Gly2714Ter) n.1G>T c.13243G>T (p.Gly4415Ter) c.9030G>T c.3885G>T c.3819G>T n.7954G>T c.8143G>T (p.Gly2715Ter) c.12808G>T (p.Gly4270Ter) c.3820G>T n.2258G>T c.5924G>T c.3094G>T (p.Gly1032Ter) n.11125G>T c.*10763G>T (n.*10763G>T) c.13459G>T (p.Gly4487Ter) c.13456G>T (p.Gly4486Ter) c.13294G>T (p.Gly4432Ter) c.13387G>T (p.Gly4463Ter) c.13291G>T (p.Gly4431Ter) c.13411G>T (p.Gly4471Ter) c.13339G>T (p.Gly4447Ter) c.13306G>T (p.Gly4436Ter) c.13222G>T (p.Gly4408Ter) c.12544G>T (p.Gly4182Ter) c.11005G>T (p.Gly3669Ter) c.13426G>T (p.Gly4476Ter) c.13408G>T (p.Gly4470Ter) c.13384G>T (p.Gly4462Ter) c.13312G>T (p.Gly4438Ter) c.13276G>T (p.Gly4426Ter) c.10129G>T (p.Gly3377Ter) c.9733G>T (p.Gly3245Ter) | dbSNP |
7 | g.152148684C>G | CA370091855 | KMT2C | c.1431G>C n.2375G>C c.13414G>C (p.Gly4472Arg) n.2543G>C n.8435G>C c.3816G>C c.10753G>C (p.Gly3585Arg) n.4873G>C c.3888G>C n.2009G>C n.1959G>C c.1660G>C (p.Gly554Arg) c.8140G>C (p.Gly2714Arg) n.1G>C c.13243G>C (p.Gly4415Arg) c.9030G>C c.3885G>C c.3819G>C n.7954G>C c.8143G>C (p.Gly2715Arg) c.12808G>C (p.Gly4270Arg) c.3820G>C n.2258G>C c.5924G>C c.3094G>C (p.Gly1032Arg) n.11125G>C c.*10763G>C (n.*10763G>C) c.13459G>C (p.Gly4487Arg) c.13456G>C (p.Gly4486Arg) c.13294G>C (p.Gly4432Arg) c.13387G>C (p.Gly4463Arg) c.13291G>C (p.Gly4431Arg) c.13411G>C (p.Gly4471Arg) c.13339G>C (p.Gly4447Arg) c.13306G>C (p.Gly4436Arg) c.13222G>C (p.Gly4408Arg) c.12544G>C (p.Gly4182Arg) c.11005G>C (p.Gly3669Arg) c.13426G>C (p.Gly4476Arg) c.13408G>C (p.Gly4470Arg) c.13384G>C (p.Gly4462Arg) c.13312G>C (p.Gly4438Arg) c.13276G>C (p.Gly4426Arg) c.10129G>C (p.Gly3377Arg) c.9733G>C (p.Gly3245Arg) | |
7 | g.152148684C>T | CA370091854 | KMT2C | c.1431G>A n.2375G>A c.13414G>A (p.Gly4472Arg) n.2543G>A n.8435G>A c.3816G>A c.10753G>A (p.Gly3585Arg) n.4873G>A c.3888G>A n.2009G>A n.1959G>A c.1660G>A (p.Gly554Arg) c.8140G>A (p.Gly2714Arg) n.1G>A c.13243G>A (p.Gly4415Arg) c.9030G>A c.3885G>A c.3819G>A n.7954G>A c.8143G>A (p.Gly2715Arg) c.12808G>A (p.Gly4270Arg) c.3820G>A n.2258G>A c.5924G>A c.3094G>A (p.Gly1032Arg) n.11125G>A c.*10763G>A (n.*10763G>A) c.13459G>A (p.Gly4487Arg) c.13456G>A (p.Gly4486Arg) c.13294G>A (p.Gly4432Arg) c.13387G>A (p.Gly4463Arg) c.13291G>A (p.Gly4431Arg) c.13411G>A (p.Gly4471Arg) c.13339G>A (p.Gly4447Arg) c.13306G>A (p.Gly4436Arg) c.13222G>A (p.Gly4408Arg) c.12544G>A (p.Gly4182Arg) c.11005G>A (p.Gly3669Arg) c.13426G>A (p.Gly4476Arg) c.13408G>A (p.Gly4470Arg) c.13384G>A (p.Gly4462Arg) c.13312G>A (p.Gly4438Arg) c.13276G>A (p.Gly4426Arg) c.10129G>A (p.Gly3377Arg) c.9733G>A (p.Gly3245Arg) | |
7 | g.152148685A>C | CA370091857 | KMT2C | c.1430T>G n.2374T>G c.13413T>G (p.Asp4471Glu) n.2542T>G n.8434T>G c.3815T>G c.10752T>G (p.Asp3584Glu) n.4872T>G c.3887T>G n.2008T>G n.1958T>G c.1659T>G (p.Asp553Glu) c.8139T>G (p.Asp2713Glu) c.13242T>G (p.Asp4414Glu) c.9029T>G c.3884T>G c.3818T>G n.7953T>G c.8142T>G (p.Asp2714Glu) c.12807T>G (p.Asp4269Glu) c.3819T>G n.2257T>G c.5923T>G c.3093T>G (p.Asp1031Glu) n.11124T>G c.*10762T>G (n.*10762T>G) c.13458T>G (p.Asp4486Glu) c.13455T>G (p.Asp4485Glu) c.13293T>G (p.Asp4431Glu) c.13386T>G (p.Asp4462Glu) c.13290T>G (p.Asp4430Glu) c.13410T>G (p.Asp4470Glu) c.13338T>G (p.Asp4446Glu) c.13305T>G (p.Asp4435Glu) c.13221T>G (p.Asp4407Glu) c.12543T>G (p.Asp4181Glu) c.11004T>G (p.Asp3668Glu) c.13425T>G (p.Asp4475Glu) c.13407T>G (p.Asp4469Glu) c.13383T>G (p.Asp4461Glu) c.13311T>G (p.Asp4437Glu) c.13275T>G (p.Asp4425Glu) c.10128T>G (p.Asp3376Glu) c.9732T>G (p.Asp3244Glu) | |
7 | g.152148685A>G | CA458884974 | KMT2C | c.1430T>C n.2374T>C c.13413T>C (p.Asp4471=) n.2542T>C n.8434T>C c.3815T>C c.10752T>C (p.Asp3584=) n.4872T>C c.3887T>C n.2008T>C n.1958T>C c.1659T>C (p.Asp553=) c.8139T>C (p.Asp2713=) c.13242T>C (p.Asp4414=) c.9029T>C c.3884T>C c.3818T>C n.7953T>C c.8142T>C (p.Asp2714=) c.12807T>C (p.Asp4269=) c.3819T>C n.2257T>C c.5923T>C c.3093T>C (p.Asp1031=) n.11124T>C c.*10762T>C (n.*10762T>C) c.13458T>C (p.Asp4486=) c.13455T>C (p.Asp4485=) c.13293T>C (p.Asp4431=) c.13386T>C (p.Asp4462=) c.13290T>C (p.Asp4430=) c.13410T>C (p.Asp4470=) c.13338T>C (p.Asp4446=) c.13305T>C (p.Asp4435=) c.13221T>C (p.Asp4407=) c.12543T>C (p.Asp4181=) c.11004T>C (p.Asp3668=) c.13425T>C (p.Asp4475=) c.13407T>C (p.Asp4469=) c.13383T>C (p.Asp4461=) c.13311T>C (p.Asp4437=) c.13275T>C (p.Asp4425=) c.10128T>C (p.Asp3376=) c.9732T>C (p.Asp3244=) | |
7 | g.152148685A>T | CA370091859 | KMT2C | c.1430T>A n.2374T>A c.13413T>A (p.Asp4471Glu) n.2542T>A n.8434T>A c.3815T>A c.10752T>A (p.Asp3584Glu) n.4872T>A c.3887T>A n.2008T>A n.1958T>A c.1659T>A (p.Asp553Glu) c.8139T>A (p.Asp2713Glu) c.13242T>A (p.Asp4414Glu) c.9029T>A c.3884T>A c.3818T>A n.7953T>A c.8142T>A (p.Asp2714Glu) c.12807T>A (p.Asp4269Glu) c.3819T>A n.2257T>A c.5923T>A c.3093T>A (p.Asp1031Glu) n.11124T>A c.*10762T>A (n.*10762T>A) c.13458T>A (p.Asp4486Glu) c.13455T>A (p.Asp4485Glu) c.13293T>A (p.Asp4431Glu) c.13386T>A (p.Asp4462Glu) c.13290T>A (p.Asp4430Glu) c.13410T>A (p.Asp4470Glu) c.13338T>A (p.Asp4446Glu) c.13305T>A (p.Asp4435Glu) c.13221T>A (p.Asp4407Glu) c.12543T>A (p.Asp4181Glu) c.11004T>A (p.Asp3668Glu) c.13425T>A (p.Asp4475Glu) c.13407T>A (p.Asp4469Glu) c.13383T>A (p.Asp4461Glu) c.13311T>A (p.Asp4437Glu) c.13275T>A (p.Asp4425Glu) c.10128T>A (p.Asp3376Glu) c.9732T>A (p.Asp3244Glu) | |
7 | g.152148686T>A | CA370091861 | KMT2C | c.1429A>T n.2373A>T c.13412A>T (p.Asp4471Val) n.2541A>T n.8433A>T c.3814A>T c.10751A>T (p.Asp3584Val) n.4871A>T c.3886A>T n.2007A>T n.1957A>T c.1658A>T (p.Asp553Val) c.8138A>T (p.Asp2713Val) c.13241A>T (p.Asp4414Val) c.9028A>T c.3883A>T c.3817A>T n.7952A>T c.8141A>T (p.Asp2714Val) c.12806A>T (p.Asp4269Val) c.3818A>T n.2256A>T c.5922A>T c.3092A>T (p.Asp1031Val) n.11123A>T c.*10761A>T (n.*10761A>T) c.13457A>T (p.Asp4486Val) c.13454A>T (p.Asp4485Val) c.13292A>T (p.Asp4431Val) c.13385A>T (p.Asp4462Val) c.13289A>T (p.Asp4430Val) c.13409A>T (p.Asp4470Val) c.13337A>T (p.Asp4446Val) c.13304A>T (p.Asp4435Val) c.13220A>T (p.Asp4407Val) c.12542A>T (p.Asp4181Val) c.11003A>T (p.Asp3668Val) c.13424A>T (p.Asp4475Val) c.13406A>T (p.Asp4469Val) c.13382A>T (p.Asp4461Val) c.13310A>T (p.Asp4437Val) c.13274A>T (p.Asp4425Val) c.10127A>T (p.Asp3376Val) c.9731A>T (p.Asp3244Val) | |
7 | g.152148686T>C | CA370091863 | KMT2C | c.1429A>G n.2373A>G c.13412A>G (p.Asp4471Gly) n.2541A>G n.8433A>G c.3814A>G c.10751A>G (p.Asp3584Gly) n.4871A>G c.3886A>G n.2007A>G n.1957A>G c.1658A>G (p.Asp553Gly) c.8138A>G (p.Asp2713Gly) c.13241A>G (p.Asp4414Gly) c.9028A>G c.3883A>G c.3817A>G n.7952A>G c.8141A>G (p.Asp2714Gly) c.12806A>G (p.Asp4269Gly) c.3818A>G n.2256A>G c.5922A>G c.3092A>G (p.Asp1031Gly) n.11123A>G c.*10761A>G (n.*10761A>G) c.13457A>G (p.Asp4486Gly) c.13454A>G (p.Asp4485Gly) c.13292A>G (p.Asp4431Gly) c.13385A>G (p.Asp4462Gly) c.13289A>G (p.Asp4430Gly) c.13409A>G (p.Asp4470Gly) c.13337A>G (p.Asp4446Gly) c.13304A>G (p.Asp4435Gly) c.13220A>G (p.Asp4407Gly) c.12542A>G (p.Asp4181Gly) c.11003A>G (p.Asp3668Gly) c.13424A>G (p.Asp4475Gly) c.13406A>G (p.Asp4469Gly) c.13382A>G (p.Asp4461Gly) c.13310A>G (p.Asp4437Gly) c.13274A>G (p.Asp4425Gly) c.10127A>G (p.Asp3376Gly) c.9731A>G (p.Asp3244Gly) | |
7 | g.152148686T>G | CA370091864 | KMT2C | c.1429A>C n.2373A>C c.13412A>C (p.Asp4471Ala) n.2541A>C n.8433A>C c.3814A>C c.10751A>C (p.Asp3584Ala) n.4871A>C c.3886A>C n.2007A>C n.1957A>C c.1658A>C (p.Asp553Ala) c.8138A>C (p.Asp2713Ala) c.13241A>C (p.Asp4414Ala) c.9028A>C c.3883A>C c.3817A>C n.7952A>C c.8141A>C (p.Asp2714Ala) c.12806A>C (p.Asp4269Ala) c.3818A>C n.2256A>C c.5922A>C c.3092A>C (p.Asp1031Ala) n.11123A>C c.*10761A>C (n.*10761A>C) c.13457A>C (p.Asp4486Ala) c.13454A>C (p.Asp4485Ala) c.13292A>C (p.Asp4431Ala) c.13385A>C (p.Asp4462Ala) c.13289A>C (p.Asp4430Ala) c.13409A>C (p.Asp4470Ala) c.13337A>C (p.Asp4446Ala) c.13304A>C (p.Asp4435Ala) c.13220A>C (p.Asp4407Ala) c.12542A>C (p.Asp4181Ala) c.11003A>C (p.Asp3668Ala) c.13424A>C (p.Asp4475Ala) c.13406A>C (p.Asp4469Ala) c.13382A>C (p.Asp4461Ala) c.13310A>C (p.Asp4437Ala) c.13274A>C (p.Asp4425Ala) c.10127A>C (p.Asp3376Ala) c.9731A>C (p.Asp3244Ala) | |
7 | g.152148687C>A | CA370091867 | KMT2C | c.1428G>T n.2372G>T c.13411G>T (p.Asp4471Tyr) n.2540G>T n.8432G>T c.3813G>T c.10750G>T (p.Asp3584Tyr) n.4870G>T c.3885G>T n.2006G>T n.1956G>T c.1657G>T (p.Asp553Tyr) c.8137G>T (p.Asp2713Tyr) c.13240G>T (p.Asp4414Tyr) c.9027G>T c.3882G>T c.3816G>T n.7951G>T c.8140G>T (p.Asp2714Tyr) c.12805G>T (p.Asp4269Tyr) c.3817G>T n.2255G>T c.5921G>T c.3091G>T (p.Asp1031Tyr) n.11122G>T c.*10760G>T (n.*10760G>T) c.13456G>T (p.Asp4486Tyr) c.13453G>T (p.Asp4485Tyr) c.13291G>T (p.Asp4431Tyr) c.13384G>T (p.Asp4462Tyr) c.13288G>T (p.Asp4430Tyr) c.13408G>T (p.Asp4470Tyr) c.13336G>T (p.Asp4446Tyr) c.13303G>T (p.Asp4435Tyr) c.13219G>T (p.Asp4407Tyr) c.12541G>T (p.Asp4181Tyr) c.11002G>T (p.Asp3668Tyr) c.13423G>T (p.Asp4475Tyr) c.13405G>T (p.Asp4469Tyr) c.13381G>T (p.Asp4461Tyr) c.13309G>T (p.Asp4437Tyr) c.13273G>T (p.Asp4425Tyr) c.10126G>T (p.Asp3376Tyr) c.9730G>T (p.Asp3244Tyr) | |
7 | g.152148687C>G | CA370091868 | KMT2C | c.1428G>C n.2372G>C c.13411G>C (p.Asp4471His) n.2540G>C n.8432G>C c.3813G>C c.10750G>C (p.Asp3584His) n.4870G>C c.3885G>C n.2006G>C n.1956G>C c.1657G>C (p.Asp553His) c.8137G>C (p.Asp2713His) c.13240G>C (p.Asp4414His) c.9027G>C c.3882G>C c.3816G>C n.7951G>C c.8140G>C (p.Asp2714His) c.12805G>C (p.Asp4269His) c.3817G>C n.2255G>C c.5921G>C c.3091G>C (p.Asp1031His) n.11122G>C c.*10760G>C (n.*10760G>C) c.13456G>C (p.Asp4486His) c.13453G>C (p.Asp4485His) c.13291G>C (p.Asp4431His) c.13384G>C (p.Asp4462His) c.13288G>C (p.Asp4430His) c.13408G>C (p.Asp4470His) c.13336G>C (p.Asp4446His) c.13303G>C (p.Asp4435His) c.13219G>C (p.Asp4407His) c.12541G>C (p.Asp4181His) c.11002G>C (p.Asp3668His) c.13423G>C (p.Asp4475His) c.13405G>C (p.Asp4469His) c.13381G>C (p.Asp4461His) c.13309G>C (p.Asp4437His) c.13273G>C (p.Asp4425His) c.10126G>C (p.Asp3376His) c.9730G>C (p.Asp3244His) | dbSNP |
7 | g.152148687C>T | CA370091869 | KMT2C | c.1428G>A n.2372G>A c.13411G>A (p.Asp4471Asn) n.2540G>A n.8432G>A c.3813G>A c.10750G>A (p.Asp3584Asn) n.4870G>A c.3885G>A n.2006G>A n.1956G>A c.1657G>A (p.Asp553Asn) c.8137G>A (p.Asp2713Asn) c.13240G>A (p.Asp4414Asn) c.9027G>A c.3882G>A c.3816G>A n.7951G>A c.8140G>A (p.Asp2714Asn) c.12805G>A (p.Asp4269Asn) c.3817G>A n.2255G>A c.5921G>A c.3091G>A (p.Asp1031Asn) n.11122G>A c.*10760G>A (n.*10760G>A) c.13456G>A (p.Asp4486Asn) c.13453G>A (p.Asp4485Asn) c.13291G>A (p.Asp4431Asn) c.13384G>A (p.Asp4462Asn) c.13288G>A (p.Asp4430Asn) c.13408G>A (p.Asp4470Asn) c.13336G>A (p.Asp4446Asn) c.13303G>A (p.Asp4435Asn) c.13219G>A (p.Asp4407Asn) c.12541G>A (p.Asp4181Asn) c.11002G>A (p.Asp3668Asn) c.13423G>A (p.Asp4475Asn) c.13405G>A (p.Asp4469Asn) c.13381G>A (p.Asp4461Asn) c.13309G>A (p.Asp4437Asn) c.13273G>A (p.Asp4425Asn) c.10126G>A (p.Asp3376Asn) c.9730G>A (p.Asp3244Asn) | dbSNP |
7 | g.152148688T>A | CA458884979 | KMT2C | c.1427A>T n.2371A>T c.13410A>T (p.Thr4470=) n.2539A>T n.8431A>T c.3812A>T c.10749A>T (p.Thr3583=) n.4869A>T c.3884A>T n.2005A>T n.1955A>T c.1656A>T (p.Thr552=) c.8136A>T (p.Thr2712=) c.13239A>T (p.Thr4413=) c.9026A>T c.3881A>T c.3815A>T n.7950A>T c.8139A>T (p.Thr2713=) c.12804A>T (p.Thr4268=) c.3816A>T n.2254A>T c.5920A>T c.3090A>T (p.Thr1030=) n.11121A>T c.*10759A>T (n.*10759A>T) c.13455A>T (p.Thr4485=) c.13452A>T (p.Thr4484=) c.13290A>T (p.Thr4430=) c.13383A>T (p.Thr4461=) c.13287A>T (p.Thr4429=) c.13407A>T (p.Thr4469=) c.13335A>T (p.Thr4445=) c.13302A>T (p.Thr4434=) c.13218A>T (p.Thr4406=) c.12540A>T (p.Thr4180=) c.11001A>T (p.Thr3667=) c.13422A>T (p.Thr4474=) c.13404A>T (p.Thr4468=) c.13380A>T (p.Thr4460=) c.13308A>T (p.Thr4436=) c.13272A>T (p.Thr4424=) c.10125A>T (p.Thr3375=) c.9729A>T (p.Thr3243=) | |
7 | g.152148688T>C | CA458884980 | KMT2C | c.1427A>G n.2371A>G c.13410A>G (p.Thr4470=) n.2539A>G n.8431A>G c.3812A>G c.10749A>G (p.Thr3583=) n.4869A>G c.3884A>G n.2005A>G n.1955A>G c.1656A>G (p.Thr552=) c.8136A>G (p.Thr2712=) c.13239A>G (p.Thr4413=) c.9026A>G c.3881A>G c.3815A>G n.7950A>G c.8139A>G (p.Thr2713=) c.12804A>G (p.Thr4268=) c.3816A>G n.2254A>G c.5920A>G c.3090A>G (p.Thr1030=) n.11121A>G c.*10759A>G (n.*10759A>G) c.13455A>G (p.Thr4485=) c.13452A>G (p.Thr4484=) c.13290A>G (p.Thr4430=) c.13383A>G (p.Thr4461=) c.13287A>G (p.Thr4429=) c.13407A>G (p.Thr4469=) c.13335A>G (p.Thr4445=) c.13302A>G (p.Thr4434=) c.13218A>G (p.Thr4406=) c.12540A>G (p.Thr4180=) c.11001A>G (p.Thr3667=) c.13422A>G (p.Thr4474=) c.13404A>G (p.Thr4468=) c.13380A>G (p.Thr4460=) c.13308A>G (p.Thr4436=) c.13272A>G (p.Thr4424=) c.10125A>G (p.Thr3375=) c.9729A>G (p.Thr3243=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.152148688T>G | CA458884982 | KMT2C | c.1427A>C n.2371A>C c.13410A>C (p.Thr4470=) n.2539A>C n.8431A>C c.3812A>C c.10749A>C (p.Thr3583=) n.4869A>C c.3884A>C n.2005A>C n.1955A>C c.1656A>C (p.Thr552=) c.8136A>C (p.Thr2712=) c.13239A>C (p.Thr4413=) c.9026A>C c.3881A>C c.3815A>C n.7950A>C c.8139A>C (p.Thr2713=) c.12804A>C (p.Thr4268=) c.3816A>C n.2254A>C c.5920A>C c.3090A>C (p.Thr1030=) n.11121A>C c.*10759A>C (n.*10759A>C) c.13455A>C (p.Thr4485=) c.13452A>C (p.Thr4484=) c.13290A>C (p.Thr4430=) c.13383A>C (p.Thr4461=) c.13287A>C (p.Thr4429=) c.13407A>C (p.Thr4469=) c.13335A>C (p.Thr4445=) c.13302A>C (p.Thr4434=) c.13218A>C (p.Thr4406=) c.12540A>C (p.Thr4180=) c.11001A>C (p.Thr3667=) c.13422A>C (p.Thr4474=) c.13404A>C (p.Thr4468=) c.13380A>C (p.Thr4460=) c.13308A>C (p.Thr4436=) c.13272A>C (p.Thr4424=) c.10125A>C (p.Thr3375=) c.9729A>C (p.Thr3243=) | |
7 | g.152148688T= | CA1752986155 | KMT2C | c.1427A= n.2371A= c.13410A= (p.Thr4470=) n.2539A= n.8431A= c.3812A= c.10749A= (p.Thr3583=) n.4869A= c.3884A= n.2005A= n.1955A= c.1656A= (p.Thr552=) c.8136A= (p.Thr2712=) c.13239A= (p.Thr4413=) c.9026A= c.3881A= c.3815A= n.7950A= c.8139A= (p.Thr2713=) c.12804A= (p.Thr4268=) c.3816A= n.2254A= c.5920A= c.3090A= (p.Thr1030=) n.11121A= c.*10759A= (n.*10759A=) c.13455A= (p.Thr4485=) c.13452A= (p.Thr4484=) c.13290A= (p.Thr4430=) c.13383A= (p.Thr4461=) c.13287A= (p.Thr4429=) c.13407A= (p.Thr4469=) c.13335A= (p.Thr4445=) c.13302A= (p.Thr4434=) c.13218A= (p.Thr4406=) c.12540A= (p.Thr4180=) c.11001A= (p.Thr3667=) c.13422A= (p.Thr4474=) c.13404A= (p.Thr4468=) c.13380A= (p.Thr4460=) c.13308A= (p.Thr4436=) c.13272A= (p.Thr4424=) c.10125A= (p.Thr3375=) c.9729A= (p.Thr3243=) | |
7 | g.152148689G>A | CA370091870 | KMT2C | c.1426C>T n.2370C>T c.13409C>T (p.Thr4470Ile) n.2538C>T n.8430C>T c.3811C>T c.10748C>T (p.Thr3583Ile) n.4868C>T c.3883C>T n.2004C>T n.1954C>T c.1655C>T (p.Thr552Ile) c.8135C>T (p.Thr2712Ile) c.13238C>T (p.Thr4413Ile) c.9025C>T c.3880C>T c.3814C>T n.7949C>T c.8138C>T (p.Thr2713Ile) c.12803C>T (p.Thr4268Ile) c.3815C>T n.2253C>T c.5919C>T c.3089C>T (p.Thr1030Ile) n.11120C>T c.*10758C>T (n.*10758C>T) c.13454C>T (p.Thr4485Ile) c.13451C>T (p.Thr4484Ile) c.13289C>T (p.Thr4430Ile) c.13382C>T (p.Thr4461Ile) c.13286C>T (p.Thr4429Ile) c.13406C>T (p.Thr4469Ile) c.13334C>T (p.Thr4445Ile) c.13301C>T (p.Thr4434Ile) c.13217C>T (p.Thr4406Ile) c.12539C>T (p.Thr4180Ile) c.11000C>T (p.Thr3667Ile) c.13421C>T (p.Thr4474Ile) c.13403C>T (p.Thr4468Ile) c.13379C>T (p.Thr4460Ile) c.13307C>T (p.Thr4436Ile) c.13271C>T (p.Thr4424Ile) c.10124C>T (p.Thr3375Ile) c.9728C>T (p.Thr3243Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148689G>C | CA370091871 | KMT2C | c.1426C>G n.2370C>G c.13409C>G (p.Thr4470Arg) n.2538C>G n.8430C>G c.3811C>G c.10748C>G (p.Thr3583Arg) n.4868C>G c.3883C>G n.2004C>G n.1954C>G c.1655C>G (p.Thr552Arg) c.8135C>G (p.Thr2712Arg) c.13238C>G (p.Thr4413Arg) c.9025C>G c.3880C>G c.3814C>G n.7949C>G c.8138C>G (p.Thr2713Arg) c.12803C>G (p.Thr4268Arg) c.3815C>G n.2253C>G c.5919C>G c.3089C>G (p.Thr1030Arg) n.11120C>G c.*10758C>G (n.*10758C>G) c.13454C>G (p.Thr4485Arg) c.13451C>G (p.Thr4484Arg) c.13289C>G (p.Thr4430Arg) c.13382C>G (p.Thr4461Arg) c.13286C>G (p.Thr4429Arg) c.13406C>G (p.Thr4469Arg) c.13334C>G (p.Thr4445Arg) c.13301C>G (p.Thr4434Arg) c.13217C>G (p.Thr4406Arg) c.12539C>G (p.Thr4180Arg) c.11000C>G (p.Thr3667Arg) c.13421C>G (p.Thr4474Arg) c.13403C>G (p.Thr4468Arg) c.13379C>G (p.Thr4460Arg) c.13307C>G (p.Thr4436Arg) c.13271C>G (p.Thr4424Arg) c.10124C>G (p.Thr3375Arg) c.9728C>G (p.Thr3243Arg) | |
7 | g.152148689G= | CA1752986161 | KMT2C | c.1426C= n.2370C= c.13409C= (p.Thr4470=) n.2538C= n.8430C= c.3811C= c.10748C= (p.Thr3583=) n.4868C= c.3883C= n.2004C= n.1954C= c.1655C= (p.Thr552=) c.8135C= (p.Thr2712=) c.13238C= (p.Thr4413=) c.9025C= c.3880C= c.3814C= n.7949C= c.8138C= (p.Thr2713=) c.12803C= (p.Thr4268=) c.3815C= n.2253C= c.5919C= c.3089C= (p.Thr1030=) n.11120C= c.*10758C= (n.*10758C=) c.13454C= (p.Thr4485=) c.13451C= (p.Thr4484=) c.13289C= (p.Thr4430=) c.13382C= (p.Thr4461=) c.13286C= (p.Thr4429=) c.13406C= (p.Thr4469=) c.13334C= (p.Thr4445=) c.13301C= (p.Thr4434=) c.13217C= (p.Thr4406=) c.12539C= (p.Thr4180=) c.11000C= (p.Thr3667=) c.13421C= (p.Thr4474=) c.13403C= (p.Thr4468=) c.13379C= (p.Thr4460=) c.13307C= (p.Thr4436=) c.13271C= (p.Thr4424=) c.10124C= (p.Thr3375=) c.9728C= (p.Thr3243=) | |
7 | g.152148689G>T | CA370091872 | KMT2C | c.1426C>A n.2370C>A c.13409C>A (p.Thr4470Lys) n.2538C>A n.8430C>A c.3811C>A c.10748C>A (p.Thr3583Lys) n.4868C>A c.3883C>A n.2004C>A n.1954C>A c.1655C>A (p.Thr552Lys) c.8135C>A (p.Thr2712Lys) c.13238C>A (p.Thr4413Lys) c.9025C>A c.3880C>A c.3814C>A n.7949C>A c.8138C>A (p.Thr2713Lys) c.12803C>A (p.Thr4268Lys) c.3815C>A n.2253C>A c.5919C>A c.3089C>A (p.Thr1030Lys) n.11120C>A c.*10758C>A (n.*10758C>A) c.13454C>A (p.Thr4485Lys) c.13451C>A (p.Thr4484Lys) c.13289C>A (p.Thr4430Lys) c.13382C>A (p.Thr4461Lys) c.13286C>A (p.Thr4429Lys) c.13406C>A (p.Thr4469Lys) c.13334C>A (p.Thr4445Lys) c.13301C>A (p.Thr4434Lys) c.13217C>A (p.Thr4406Lys) c.12539C>A (p.Thr4180Lys) c.11000C>A (p.Thr3667Lys) c.13421C>A (p.Thr4474Lys) c.13403C>A (p.Thr4468Lys) c.13379C>A (p.Thr4460Lys) c.13307C>A (p.Thr4436Lys) c.13271C>A (p.Thr4424Lys) c.10124C>A (p.Thr3375Lys) c.9728C>A (p.Thr3243Lys) | |
7 | g.152148690T>A | CA370091877 | KMT2C | c.1425A>T n.2369A>T c.13408A>T (p.Thr4470Ser) n.2537A>T n.8429A>T c.3810A>T c.10747A>T (p.Thr3583Ser) n.4867A>T c.3882A>T n.2003A>T n.1953A>T c.1654A>T (p.Thr552Ser) c.8134A>T (p.Thr2712Ser) c.13237A>T (p.Thr4413Ser) c.9024A>T c.3879A>T c.3813A>T n.7948A>T c.8137A>T (p.Thr2713Ser) c.12802A>T (p.Thr4268Ser) c.3814A>T n.2252A>T c.5918A>T c.3088A>T (p.Thr1030Ser) n.11119A>T c.*10757A>T (n.*10757A>T) c.13453A>T (p.Thr4485Ser) c.13450A>T (p.Thr4484Ser) c.13288A>T (p.Thr4430Ser) c.13381A>T (p.Thr4461Ser) c.13285A>T (p.Thr4429Ser) c.13405A>T (p.Thr4469Ser) c.13333A>T (p.Thr4445Ser) c.13300A>T (p.Thr4434Ser) c.13216A>T (p.Thr4406Ser) c.12538A>T (p.Thr4180Ser) c.10999A>T (p.Thr3667Ser) c.13420A>T (p.Thr4474Ser) c.13402A>T (p.Thr4468Ser) c.13378A>T (p.Thr4460Ser) c.13306A>T (p.Thr4436Ser) c.13270A>T (p.Thr4424Ser) c.10123A>T (p.Thr3375Ser) c.9727A>T (p.Thr3243Ser) | |
7 | g.152148690T>C | CA370091876 | KMT2C | c.1425A>G n.2369A>G c.13408A>G (p.Thr4470Ala) n.2537A>G n.8429A>G c.3810A>G c.10747A>G (p.Thr3583Ala) n.4867A>G c.3882A>G n.2003A>G n.1953A>G c.1654A>G (p.Thr552Ala) c.8134A>G (p.Thr2712Ala) c.13237A>G (p.Thr4413Ala) c.9024A>G c.3879A>G c.3813A>G n.7948A>G c.8137A>G (p.Thr2713Ala) c.12802A>G (p.Thr4268Ala) c.3814A>G n.2252A>G c.5918A>G c.3088A>G (p.Thr1030Ala) n.11119A>G c.*10757A>G (n.*10757A>G) c.13453A>G (p.Thr4485Ala) c.13450A>G (p.Thr4484Ala) c.13288A>G (p.Thr4430Ala) c.13381A>G (p.Thr4461Ala) c.13285A>G (p.Thr4429Ala) c.13405A>G (p.Thr4469Ala) c.13333A>G (p.Thr4445Ala) c.13300A>G (p.Thr4434Ala) c.13216A>G (p.Thr4406Ala) c.12538A>G (p.Thr4180Ala) c.10999A>G (p.Thr3667Ala) c.13420A>G (p.Thr4474Ala) c.13402A>G (p.Thr4468Ala) c.13378A>G (p.Thr4460Ala) c.13306A>G (p.Thr4436Ala) c.13270A>G (p.Thr4424Ala) c.10123A>G (p.Thr3375Ala) c.9727A>G (p.Thr3243Ala) | |
7 | g.152148690T>G | CA370091874 | KMT2C | c.1425A>C n.2369A>C c.13408A>C (p.Thr4470Pro) n.2537A>C n.8429A>C c.3810A>C c.10747A>C (p.Thr3583Pro) n.4867A>C c.3882A>C n.2003A>C n.1953A>C c.1654A>C (p.Thr552Pro) c.8134A>C (p.Thr2712Pro) c.13237A>C (p.Thr4413Pro) c.9024A>C c.3879A>C c.3813A>C n.7948A>C c.8137A>C (p.Thr2713Pro) c.12802A>C (p.Thr4268Pro) c.3814A>C n.2252A>C c.5918A>C c.3088A>C (p.Thr1030Pro) n.11119A>C c.*10757A>C (n.*10757A>C) c.13453A>C (p.Thr4485Pro) c.13450A>C (p.Thr4484Pro) c.13288A>C (p.Thr4430Pro) c.13381A>C (p.Thr4461Pro) c.13285A>C (p.Thr4429Pro) c.13405A>C (p.Thr4469Pro) c.13333A>C (p.Thr4445Pro) c.13300A>C (p.Thr4434Pro) c.13216A>C (p.Thr4406Pro) c.12538A>C (p.Thr4180Pro) c.10999A>C (p.Thr3667Pro) c.13420A>C (p.Thr4474Pro) c.13402A>C (p.Thr4468Pro) c.13378A>C (p.Thr4460Pro) c.13306A>C (p.Thr4436Pro) c.13270A>C (p.Thr4424Pro) c.10123A>C (p.Thr3375Pro) c.9727A>C (p.Thr3243Pro) | gnomAD v4 |
7 | g.152148691C>A | CA370091880 | KMT2C | c.1424G>T n.2368G>T c.13407G>T (p.Leu4469Phe) n.2536G>T n.8428G>T c.3809G>T c.10746G>T (p.Leu3582Phe) n.4866G>T c.3881G>T n.2002G>T n.1952G>T c.1653G>T (p.Leu551Phe) c.8133G>T (p.Leu2711Phe) c.13236G>T (p.Leu4412Phe) c.9023G>T c.3878G>T c.3812G>T n.7947G>T c.8136G>T (p.Leu2712Phe) c.12801G>T (p.Leu4267Phe) c.3813G>T n.2251G>T c.5917G>T c.3087G>T (p.Leu1029Phe) n.11118G>T c.*10756G>T (n.*10756G>T) c.13452G>T (p.Leu4484Phe) c.13449G>T (p.Leu4483Phe) c.13287G>T (p.Leu4429Phe) c.13380G>T (p.Leu4460Phe) c.13284G>T (p.Leu4428Phe) c.13404G>T (p.Leu4468Phe) c.13332G>T (p.Leu4444Phe) c.13299G>T (p.Leu4433Phe) c.13215G>T (p.Leu4405Phe) c.12537G>T (p.Leu4179Phe) c.10998G>T (p.Leu3666Phe) c.13419G>T (p.Leu4473Phe) c.13401G>T (p.Leu4467Phe) c.13377G>T (p.Leu4459Phe) c.13305G>T (p.Leu4435Phe) c.13269G>T (p.Leu4423Phe) c.10122G>T (p.Leu3374Phe) c.9726G>T (p.Leu3242Phe) | gnomAD v4 |
7 | g.152148691C>G | CA370091882 | KMT2C | c.1424G>C n.2368G>C c.13407G>C (p.Leu4469Phe) n.2536G>C n.8428G>C c.3809G>C c.10746G>C (p.Leu3582Phe) n.4866G>C c.3881G>C n.2002G>C n.1952G>C c.1653G>C (p.Leu551Phe) c.8133G>C (p.Leu2711Phe) c.13236G>C (p.Leu4412Phe) c.9023G>C c.3878G>C c.3812G>C n.7947G>C c.8136G>C (p.Leu2712Phe) c.12801G>C (p.Leu4267Phe) c.3813G>C n.2251G>C c.5917G>C c.3087G>C (p.Leu1029Phe) n.11118G>C c.*10756G>C (n.*10756G>C) c.13452G>C (p.Leu4484Phe) c.13449G>C (p.Leu4483Phe) c.13287G>C (p.Leu4429Phe) c.13380G>C (p.Leu4460Phe) c.13284G>C (p.Leu4428Phe) c.13404G>C (p.Leu4468Phe) c.13332G>C (p.Leu4444Phe) c.13299G>C (p.Leu4433Phe) c.13215G>C (p.Leu4405Phe) c.12537G>C (p.Leu4179Phe) c.10998G>C (p.Leu3666Phe) c.13419G>C (p.Leu4473Phe) c.13401G>C (p.Leu4467Phe) c.13377G>C (p.Leu4459Phe) c.13305G>C (p.Leu4435Phe) c.13269G>C (p.Leu4423Phe) c.10122G>C (p.Leu3374Phe) c.9726G>C (p.Leu3242Phe) | |
7 | g.152148691C>T | CA458884987 | KMT2C | c.1424G>A n.2368G>A c.13407G>A (p.Leu4469=) n.2536G>A n.8428G>A c.3809G>A c.10746G>A (p.Leu3582=) n.4866G>A c.3881G>A n.2002G>A n.1952G>A c.1653G>A (p.Leu551=) c.8133G>A (p.Leu2711=) c.13236G>A (p.Leu4412=) c.9023G>A c.3878G>A c.3812G>A n.7947G>A c.8136G>A (p.Leu2712=) c.12801G>A (p.Leu4267=) c.3813G>A n.2251G>A c.5917G>A c.3087G>A (p.Leu1029=) n.11118G>A c.*10756G>A (n.*10756G>A) c.13452G>A (p.Leu4484=) c.13449G>A (p.Leu4483=) c.13287G>A (p.Leu4429=) c.13380G>A (p.Leu4460=) c.13284G>A (p.Leu4428=) c.13404G>A (p.Leu4468=) c.13332G>A (p.Leu4444=) c.13299G>A (p.Leu4433=) c.13215G>A (p.Leu4405=) c.12537G>A (p.Leu4179=) c.10998G>A (p.Leu3666=) c.13419G>A (p.Leu4473=) c.13401G>A (p.Leu4467=) c.13377G>A (p.Leu4459=) c.13305G>A (p.Leu4435=) c.13269G>A (p.Leu4423=) c.10122G>A (p.Leu3374=) c.9726G>A (p.Leu3242=) | |
7 | g.152148692A>C | CA370091885 | KMT2C | c.1423T>G n.2367T>G c.13406T>G (p.Leu4469Trp) n.2535T>G n.8427T>G c.3808T>G c.10745T>G (p.Leu3582Trp) n.4865T>G c.3880T>G n.2001T>G n.1951T>G c.1652T>G (p.Leu551Trp) c.8132T>G (p.Leu2711Trp) c.13235T>G (p.Leu4412Trp) c.9022T>G c.3877T>G c.3811T>G n.7946T>G c.8135T>G (p.Leu2712Trp) c.12800T>G (p.Leu4267Trp) c.3812T>G n.2250T>G c.5916T>G c.3086T>G (p.Leu1029Trp) n.11117T>G c.*10755T>G (n.*10755T>G) c.13451T>G (p.Leu4484Trp) c.13448T>G (p.Leu4483Trp) c.13286T>G (p.Leu4429Trp) c.13379T>G (p.Leu4460Trp) c.13283T>G (p.Leu4428Trp) c.13403T>G (p.Leu4468Trp) c.13331T>G (p.Leu4444Trp) c.13298T>G (p.Leu4433Trp) c.13214T>G (p.Leu4405Trp) c.12536T>G (p.Leu4179Trp) c.10997T>G (p.Leu3666Trp) c.13418T>G (p.Leu4473Trp) c.13400T>G (p.Leu4467Trp) c.13376T>G (p.Leu4459Trp) c.13304T>G (p.Leu4435Trp) c.13268T>G (p.Leu4423Trp) c.10121T>G (p.Leu3374Trp) c.9725T>G (p.Leu3242Trp) | |
7 | g.152148692A>G | CA370091886 | KMT2C | c.1423T>C n.2367T>C c.13406T>C (p.Leu4469Ser) n.2535T>C n.8427T>C c.3808T>C c.10745T>C (p.Leu3582Ser) n.4865T>C c.3880T>C n.2001T>C n.1951T>C c.1652T>C (p.Leu551Ser) c.8132T>C (p.Leu2711Ser) c.13235T>C (p.Leu4412Ser) c.9022T>C c.3877T>C c.3811T>C n.7946T>C c.8135T>C (p.Leu2712Ser) c.12800T>C (p.Leu4267Ser) c.3812T>C n.2250T>C c.5916T>C c.3086T>C (p.Leu1029Ser) n.11117T>C c.*10755T>C (n.*10755T>C) c.13451T>C (p.Leu4484Ser) c.13448T>C (p.Leu4483Ser) c.13286T>C (p.Leu4429Ser) c.13379T>C (p.Leu4460Ser) c.13283T>C (p.Leu4428Ser) c.13403T>C (p.Leu4468Ser) c.13331T>C (p.Leu4444Ser) c.13298T>C (p.Leu4433Ser) c.13214T>C (p.Leu4405Ser) c.12536T>C (p.Leu4179Ser) c.10997T>C (p.Leu3666Ser) c.13418T>C (p.Leu4473Ser) c.13400T>C (p.Leu4467Ser) c.13376T>C (p.Leu4459Ser) c.13304T>C (p.Leu4435Ser) c.13268T>C (p.Leu4423Ser) c.10121T>C (p.Leu3374Ser) c.9725T>C (p.Leu3242Ser) | |
7 | g.152148692A>T | CA370091888 | KMT2C | c.1423T>A n.2367T>A c.13406T>A (p.Leu4469Ter) n.2535T>A n.8427T>A c.3808T>A c.10745T>A (p.Leu3582Ter) n.4865T>A c.3880T>A n.2001T>A n.1951T>A c.1652T>A (p.Leu551Ter) c.8132T>A (p.Leu2711Ter) c.13235T>A (p.Leu4412Ter) c.9022T>A c.3877T>A c.3811T>A n.7946T>A c.8135T>A (p.Leu2712Ter) c.12800T>A (p.Leu4267Ter) c.3812T>A n.2250T>A c.5916T>A c.3086T>A (p.Leu1029Ter) n.11117T>A c.*10755T>A (n.*10755T>A) c.13451T>A (p.Leu4484Ter) c.13448T>A (p.Leu4483Ter) c.13286T>A (p.Leu4429Ter) c.13379T>A (p.Leu4460Ter) c.13283T>A (p.Leu4428Ter) c.13403T>A (p.Leu4468Ter) c.13331T>A (p.Leu4444Ter) c.13298T>A (p.Leu4433Ter) c.13214T>A (p.Leu4405Ter) c.12536T>A (p.Leu4179Ter) c.10997T>A (p.Leu3666Ter) c.13418T>A (p.Leu4473Ter) c.13400T>A (p.Leu4467Ter) c.13376T>A (p.Leu4459Ter) c.13304T>A (p.Leu4435Ter) c.13268T>A (p.Leu4423Ter) c.10121T>A (p.Leu3374Ter) c.9725T>A (p.Leu3242Ter) | |
7 | g.152148693A>C | CA370091891 | KMT2C | c.1422T>G n.2366T>G c.13405T>G (p.Leu4469Val) n.2534T>G n.8426T>G c.3807T>G c.10744T>G (p.Leu3582Val) n.4864T>G c.3879T>G n.2000T>G n.1950T>G c.1651T>G (p.Leu551Val) c.8131T>G (p.Leu2711Val) c.13234T>G (p.Leu4412Val) c.9021T>G c.3876T>G c.3810T>G n.7945T>G c.8134T>G (p.Leu2712Val) c.12799T>G (p.Leu4267Val) c.3811T>G n.2249T>G c.5915T>G c.3085T>G (p.Leu1029Val) n.11116T>G c.*10754T>G (n.*10754T>G) c.13450T>G (p.Leu4484Val) c.13447T>G (p.Leu4483Val) c.13285T>G (p.Leu4429Val) c.13378T>G (p.Leu4460Val) c.13282T>G (p.Leu4428Val) c.13402T>G (p.Leu4468Val) c.13330T>G (p.Leu4444Val) c.13297T>G (p.Leu4433Val) c.13213T>G (p.Leu4405Val) c.12535T>G (p.Leu4179Val) c.10996T>G (p.Leu3666Val) c.13417T>G (p.Leu4473Val) c.13399T>G (p.Leu4467Val) c.13375T>G (p.Leu4459Val) c.13303T>G (p.Leu4435Val) c.13267T>G (p.Leu4423Val) c.10120T>G (p.Leu3374Val) c.9724T>G (p.Leu3242Val) | |
7 | g.152148693A>G | CA458884992 | KMT2C | c.1422T>C n.2366T>C c.13405T>C (p.Leu4469=) n.2534T>C n.8426T>C c.3807T>C c.10744T>C (p.Leu3582=) n.4864T>C c.3879T>C n.2000T>C n.1950T>C c.1651T>C (p.Leu551=) c.8131T>C (p.Leu2711=) c.13234T>C (p.Leu4412=) c.9021T>C c.3876T>C c.3810T>C n.7945T>C c.8134T>C (p.Leu2712=) c.12799T>C (p.Leu4267=) c.3811T>C n.2249T>C c.5915T>C c.3085T>C (p.Leu1029=) n.11116T>C c.*10754T>C (n.*10754T>C) c.13450T>C (p.Leu4484=) c.13447T>C (p.Leu4483=) c.13285T>C (p.Leu4429=) c.13378T>C (p.Leu4460=) c.13282T>C (p.Leu4428=) c.13402T>C (p.Leu4468=) c.13330T>C (p.Leu4444=) c.13297T>C (p.Leu4433=) c.13213T>C (p.Leu4405=) c.12535T>C (p.Leu4179=) c.10996T>C (p.Leu3666=) c.13417T>C (p.Leu4473=) c.13399T>C (p.Leu4467=) c.13375T>C (p.Leu4459=) c.13303T>C (p.Leu4435=) c.13267T>C (p.Leu4423=) c.10120T>C (p.Leu3374=) c.9724T>C (p.Leu3242=) | dbSNP gnomAD v4 |
7 | g.152148693A>T | CA370091893 | KMT2C | c.1422T>A n.2366T>A c.13405T>A (p.Leu4469Met) n.2534T>A n.8426T>A c.3807T>A c.10744T>A (p.Leu3582Met) n.4864T>A c.3879T>A n.2000T>A n.1950T>A c.1651T>A (p.Leu551Met) c.8131T>A (p.Leu2711Met) c.13234T>A (p.Leu4412Met) c.9021T>A c.3876T>A c.3810T>A n.7945T>A c.8134T>A (p.Leu2712Met) c.12799T>A (p.Leu4267Met) c.3811T>A n.2249T>A c.5915T>A c.3085T>A (p.Leu1029Met) n.11116T>A c.*10754T>A (n.*10754T>A) c.13450T>A (p.Leu4484Met) c.13447T>A (p.Leu4483Met) c.13285T>A (p.Leu4429Met) c.13378T>A (p.Leu4460Met) c.13282T>A (p.Leu4428Met) c.13402T>A (p.Leu4468Met) c.13330T>A (p.Leu4444Met) c.13297T>A (p.Leu4433Met) c.13213T>A (p.Leu4405Met) c.12535T>A (p.Leu4179Met) c.10996T>A (p.Leu3666Met) c.13417T>A (p.Leu4473Met) c.13399T>A (p.Leu4467Met) c.13375T>A (p.Leu4459Met) c.13303T>A (p.Leu4435Met) c.13267T>A (p.Leu4423Met) c.10120T>A (p.Leu3374Met) c.9724T>A (p.Leu3242Met) | |
7 | g.152148694T>A | CA458884995 | KMT2C | c.1421A>T n.2365A>T c.13404A>T (p.Gly4468=) n.2533A>T n.8425A>T c.3806A>T c.10743A>T (p.Gly3581=) n.4863A>T c.3878A>T n.1999A>T n.1949A>T c.1650A>T (p.Gly550=) c.8130A>T (p.Gly2710=) c.13233A>T (p.Gly4411=) c.9020A>T c.3875A>T c.3809A>T n.7944A>T c.8133A>T (p.Gly2711=) c.12798A>T (p.Gly4266=) c.3810A>T n.2248A>T c.5914A>T c.3084A>T (p.Gly1028=) n.11115A>T c.*10753A>T (n.*10753A>T) c.13449A>T (p.Gly4483=) c.13446A>T (p.Gly4482=) c.13284A>T (p.Gly4428=) c.13377A>T (p.Gly4459=) c.13281A>T (p.Gly4427=) c.13401A>T (p.Gly4467=) c.13329A>T (p.Gly4443=) c.13296A>T (p.Gly4432=) c.13212A>T (p.Gly4404=) c.12534A>T (p.Gly4178=) c.10995A>T (p.Gly3665=) c.13416A>T (p.Gly4472=) c.13398A>T (p.Gly4466=) c.13374A>T (p.Gly4458=) c.13302A>T (p.Gly4434=) c.13266A>T (p.Gly4422=) c.10119A>T (p.Gly3373=) c.9723A>T (p.Gly3241=) | |
7 | g.152148694T>C | CA4578652 | KMT2C | c.1421A>G n.2365A>G c.13404A>G (p.Gly4468=) n.2533A>G n.8425A>G c.3806A>G c.10743A>G (p.Gly3581=) n.4863A>G c.3878A>G n.1999A>G n.1949A>G c.1650A>G (p.Gly550=) c.8130A>G (p.Gly2710=) c.13233A>G (p.Gly4411=) c.9020A>G c.3875A>G c.3809A>G n.7944A>G c.8133A>G (p.Gly2711=) c.12798A>G (p.Gly4266=) c.3810A>G n.2248A>G c.5914A>G c.3084A>G (p.Gly1028=) n.11115A>G c.*10753A>G (n.*10753A>G) c.13449A>G (p.Gly4483=) c.13446A>G (p.Gly4482=) c.13284A>G (p.Gly4428=) c.13377A>G (p.Gly4459=) c.13281A>G (p.Gly4427=) c.13401A>G (p.Gly4467=) c.13329A>G (p.Gly4443=) c.13296A>G (p.Gly4432=) c.13212A>G (p.Gly4404=) c.12534A>G (p.Gly4178=) c.10995A>G (p.Gly3665=) c.13416A>G (p.Gly4472=) c.13398A>G (p.Gly4466=) c.13374A>G (p.Gly4458=) c.13302A>G (p.Gly4434=) c.13266A>G (p.Gly4422=) c.10119A>G (p.Gly3373=) c.9723A>G (p.Gly3241=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148694T>G | CA458884998 | KMT2C | c.1421A>C n.2365A>C c.13404A>C (p.Gly4468=) n.2533A>C n.8425A>C c.3806A>C c.10743A>C (p.Gly3581=) n.4863A>C c.3878A>C n.1999A>C n.1949A>C c.1650A>C (p.Gly550=) c.8130A>C (p.Gly2710=) c.13233A>C (p.Gly4411=) c.9020A>C c.3875A>C c.3809A>C n.7944A>C c.8133A>C (p.Gly2711=) c.12798A>C (p.Gly4266=) c.3810A>C n.2248A>C c.5914A>C c.3084A>C (p.Gly1028=) n.11115A>C c.*10753A>C (n.*10753A>C) c.13449A>C (p.Gly4483=) c.13446A>C (p.Gly4482=) c.13284A>C (p.Gly4428=) c.13377A>C (p.Gly4459=) c.13281A>C (p.Gly4427=) c.13401A>C (p.Gly4467=) c.13329A>C (p.Gly4443=) c.13296A>C (p.Gly4432=) c.13212A>C (p.Gly4404=) c.12534A>C (p.Gly4178=) c.10995A>C (p.Gly3665=) c.13416A>C (p.Gly4472=) c.13398A>C (p.Gly4466=) c.13374A>C (p.Gly4458=) c.13302A>C (p.Gly4434=) c.13266A>C (p.Gly4422=) c.10119A>C (p.Gly3373=) c.9723A>C (p.Gly3241=) | |
7 | g.152148694T= | CA1752986166 | KMT2C | c.1421A= n.2365A= c.13404A= (p.Gly4468=) n.2533A= n.8425A= c.3806A= c.10743A= (p.Gly3581=) n.4863A= c.3878A= n.1999A= n.1949A= c.1650A= (p.Gly550=) c.8130A= (p.Gly2710=) c.13233A= (p.Gly4411=) c.9020A= c.3875A= c.3809A= n.7944A= c.8133A= (p.Gly2711=) c.12798A= (p.Gly4266=) c.3810A= n.2248A= c.5914A= c.3084A= (p.Gly1028=) n.11115A= c.*10753A= (n.*10753A=) c.13449A= (p.Gly4483=) c.13446A= (p.Gly4482=) c.13284A= (p.Gly4428=) c.13377A= (p.Gly4459=) c.13281A= (p.Gly4427=) c.13401A= (p.Gly4467=) c.13329A= (p.Gly4443=) c.13296A= (p.Gly4432=) c.13212A= (p.Gly4404=) c.12534A= (p.Gly4178=) c.10995A= (p.Gly3665=) c.13416A= (p.Gly4472=) c.13398A= (p.Gly4466=) c.13374A= (p.Gly4458=) c.13302A= (p.Gly4434=) c.13266A= (p.Gly4422=) c.10119A= (p.Gly3373=) c.9723A= (p.Gly3241=) | |
7 | g.152148695C>A | CA370091901 | KMT2C | c.1420G>T n.2364G>T c.13403G>T (p.Gly4468Val) n.2532G>T n.8424G>T c.3805G>T c.10742G>T (p.Gly3581Val) n.4862G>T c.3877G>T n.1998G>T n.1948G>T c.1649G>T (p.Gly550Val) c.8129G>T (p.Gly2710Val) c.13232G>T (p.Gly4411Val) c.9019G>T c.3874G>T c.3808G>T n.7943G>T c.8132G>T (p.Gly2711Val) c.12797G>T (p.Gly4266Val) c.3809G>T n.2247G>T c.5913G>T c.3083G>T (p.Gly1028Val) n.11114G>T c.*10752G>T (n.*10752G>T) c.13448G>T (p.Gly4483Val) c.13445G>T (p.Gly4482Val) c.13283G>T (p.Gly4428Val) c.13376G>T (p.Gly4459Val) c.13280G>T (p.Gly4427Val) c.13400G>T (p.Gly4467Val) c.13328G>T (p.Gly4443Val) c.13295G>T (p.Gly4432Val) c.13211G>T (p.Gly4404Val) c.12533G>T (p.Gly4178Val) c.10994G>T (p.Gly3665Val) c.13415G>T (p.Gly4472Val) c.13397G>T (p.Gly4466Val) c.13373G>T (p.Gly4458Val) c.13301G>T (p.Gly4434Val) c.13265G>T (p.Gly4422Val) c.10118G>T (p.Gly3373Val) c.9722G>T (p.Gly3241Val) | dbSNP |
7 | g.152148695C>G | CA370091904 | KMT2C | c.1420G>C n.2364G>C c.13403G>C (p.Gly4468Ala) n.2532G>C n.8424G>C c.3805G>C c.10742G>C (p.Gly3581Ala) n.4862G>C c.3877G>C n.1998G>C n.1948G>C c.1649G>C (p.Gly550Ala) c.8129G>C (p.Gly2710Ala) c.13232G>C (p.Gly4411Ala) c.9019G>C c.3874G>C c.3808G>C n.7943G>C c.8132G>C (p.Gly2711Ala) c.12797G>C (p.Gly4266Ala) c.3809G>C n.2247G>C c.5913G>C c.3083G>C (p.Gly1028Ala) n.11114G>C c.*10752G>C (n.*10752G>C) c.13448G>C (p.Gly4483Ala) c.13445G>C (p.Gly4482Ala) c.13283G>C (p.Gly4428Ala) c.13376G>C (p.Gly4459Ala) c.13280G>C (p.Gly4427Ala) c.13400G>C (p.Gly4467Ala) c.13328G>C (p.Gly4443Ala) c.13295G>C (p.Gly4432Ala) c.13211G>C (p.Gly4404Ala) c.12533G>C (p.Gly4178Ala) c.10994G>C (p.Gly3665Ala) c.13415G>C (p.Gly4472Ala) c.13397G>C (p.Gly4466Ala) c.13373G>C (p.Gly4458Ala) c.13301G>C (p.Gly4434Ala) c.13265G>C (p.Gly4422Ala) c.10118G>C (p.Gly3373Ala) c.9722G>C (p.Gly3241Ala) | |
7 | g.152148695C>T | CA370091907 | KMT2C | c.1420G>A n.2364G>A c.13403G>A (p.Gly4468Glu) n.2532G>A n.8424G>A c.3805G>A c.10742G>A (p.Gly3581Glu) n.4862G>A c.3877G>A n.1998G>A n.1948G>A c.1649G>A (p.Gly550Glu) c.8129G>A (p.Gly2710Glu) c.13232G>A (p.Gly4411Glu) c.9019G>A c.3874G>A c.3808G>A n.7943G>A c.8132G>A (p.Gly2711Glu) c.12797G>A (p.Gly4266Glu) c.3809G>A n.2247G>A c.5913G>A c.3083G>A (p.Gly1028Glu) n.11114G>A c.*10752G>A (n.*10752G>A) c.13448G>A (p.Gly4483Glu) c.13445G>A (p.Gly4482Glu) c.13283G>A (p.Gly4428Glu) c.13376G>A (p.Gly4459Glu) c.13280G>A (p.Gly4427Glu) c.13400G>A (p.Gly4467Glu) c.13328G>A (p.Gly4443Glu) c.13295G>A (p.Gly4432Glu) c.13211G>A (p.Gly4404Glu) c.12533G>A (p.Gly4178Glu) c.10994G>A (p.Gly3665Glu) c.13415G>A (p.Gly4472Glu) c.13397G>A (p.Gly4466Glu) c.13373G>A (p.Gly4458Glu) c.13301G>A (p.Gly4434Glu) c.13265G>A (p.Gly4422Glu) c.10118G>A (p.Gly3373Glu) c.9722G>A (p.Gly3241Glu) | |
7 | g.152148696C>A | CA370091917 | KMT2C | c.1419G>T n.2363G>T c.13402G>T (p.Gly4468Ter) n.2531G>T n.8423G>T c.3804G>T c.10741G>T (p.Gly3581Ter) n.4861G>T c.3876G>T n.1997G>T n.1947G>T c.1648G>T (p.Gly550Ter) c.8128G>T (p.Gly2710Ter) c.13231G>T (p.Gly4411Ter) c.9018G>T c.3873G>T c.3807G>T n.7942G>T c.8131G>T (p.Gly2711Ter) c.12796G>T (p.Gly4266Ter) c.3808G>T n.2246G>T c.5912G>T c.3082G>T (p.Gly1028Ter) n.11113G>T c.*10751G>T (n.*10751G>T) c.13447G>T (p.Gly4483Ter) c.13444G>T (p.Gly4482Ter) c.13282G>T (p.Gly4428Ter) c.13375G>T (p.Gly4459Ter) c.13279G>T (p.Gly4427Ter) c.13399G>T (p.Gly4467Ter) c.13327G>T (p.Gly4443Ter) c.13294G>T (p.Gly4432Ter) c.13210G>T (p.Gly4404Ter) c.12532G>T (p.Gly4178Ter) c.10993G>T (p.Gly3665Ter) c.13414G>T (p.Gly4472Ter) c.13396G>T (p.Gly4466Ter) c.13372G>T (p.Gly4458Ter) c.13300G>T (p.Gly4434Ter) c.13264G>T (p.Gly4422Ter) c.10117G>T (p.Gly3373Ter) c.9721G>T (p.Gly3241Ter) | dbSNP |
7 | g.152148696C>G | CA370091915 | KMT2C | c.1419G>C n.2363G>C c.13402G>C (p.Gly4468Arg) n.2531G>C n.8423G>C c.3804G>C c.10741G>C (p.Gly3581Arg) n.4861G>C c.3876G>C n.1997G>C n.1947G>C c.1648G>C (p.Gly550Arg) c.8128G>C (p.Gly2710Arg) c.13231G>C (p.Gly4411Arg) c.9018G>C c.3873G>C c.3807G>C n.7942G>C c.8131G>C (p.Gly2711Arg) c.12796G>C (p.Gly4266Arg) c.3808G>C n.2246G>C c.5912G>C c.3082G>C (p.Gly1028Arg) n.11113G>C c.*10751G>C (n.*10751G>C) c.13447G>C (p.Gly4483Arg) c.13444G>C (p.Gly4482Arg) c.13282G>C (p.Gly4428Arg) c.13375G>C (p.Gly4459Arg) c.13279G>C (p.Gly4427Arg) c.13399G>C (p.Gly4467Arg) c.13327G>C (p.Gly4443Arg) c.13294G>C (p.Gly4432Arg) c.13210G>C (p.Gly4404Arg) c.12532G>C (p.Gly4178Arg) c.10993G>C (p.Gly3665Arg) c.13414G>C (p.Gly4472Arg) c.13396G>C (p.Gly4466Arg) c.13372G>C (p.Gly4458Arg) c.13300G>C (p.Gly4434Arg) c.13264G>C (p.Gly4422Arg) c.10117G>C (p.Gly3373Arg) c.9721G>C (p.Gly3241Arg) | |
7 | g.152148696C>T | CA370091914 | KMT2C | c.1419G>A n.2363G>A c.13402G>A (p.Gly4468Arg) n.2531G>A n.8423G>A c.3804G>A c.10741G>A (p.Gly3581Arg) n.4861G>A c.3876G>A n.1997G>A n.1947G>A c.1648G>A (p.Gly550Arg) c.8128G>A (p.Gly2710Arg) c.13231G>A (p.Gly4411Arg) c.9018G>A c.3873G>A c.3807G>A n.7942G>A c.8131G>A (p.Gly2711Arg) c.12796G>A (p.Gly4266Arg) c.3808G>A n.2246G>A c.5912G>A c.3082G>A (p.Gly1028Arg) n.11113G>A c.*10751G>A (n.*10751G>A) c.13447G>A (p.Gly4483Arg) c.13444G>A (p.Gly4482Arg) c.13282G>A (p.Gly4428Arg) c.13375G>A (p.Gly4459Arg) c.13279G>A (p.Gly4427Arg) c.13399G>A (p.Gly4467Arg) c.13327G>A (p.Gly4443Arg) c.13294G>A (p.Gly4432Arg) c.13210G>A (p.Gly4404Arg) c.12532G>A (p.Gly4178Arg) c.10993G>A (p.Gly3665Arg) c.13414G>A (p.Gly4472Arg) c.13396G>A (p.Gly4466Arg) c.13372G>A (p.Gly4458Arg) c.13300G>A (p.Gly4434Arg) c.13264G>A (p.Gly4422Arg) c.10117G>A (p.Gly3373Arg) c.9721G>A (p.Gly3241Arg) | dbSNP |
7 | g.152148697A>C | CA370091920 | KMT2C | c.1418T>G n.2362T>G c.13401T>G (p.Asp4467Glu) n.2530T>G n.8422T>G c.3803T>G c.10740T>G (p.Asp3580Glu) n.4860T>G c.3875T>G n.1996T>G n.1946T>G c.1647T>G (p.Asp549Glu) c.8127T>G (p.Asp2709Glu) c.13230T>G (p.Asp4410Glu) c.9017T>G c.3872T>G c.3806T>G n.7941T>G c.8130T>G (p.Asp2710Glu) c.12795T>G (p.Asp4265Glu) c.3807T>G n.2245T>G c.5911T>G c.3081T>G (p.Asp1027Glu) n.11112T>G c.*10750T>G (n.*10750T>G) c.13446T>G (p.Asp4482Glu) c.13443T>G (p.Asp4481Glu) c.13281T>G (p.Asp4427Glu) c.13374T>G (p.Asp4458Glu) c.13278T>G (p.Asp4426Glu) c.13398T>G (p.Asp4466Glu) c.13326T>G (p.Asp4442Glu) c.13293T>G (p.Asp4431Glu) c.13209T>G (p.Asp4403Glu) c.12531T>G (p.Asp4177Glu) c.10992T>G (p.Asp3664Glu) c.13413T>G (p.Asp4471Glu) c.13395T>G (p.Asp4465Glu) c.13371T>G (p.Asp4457Glu) c.13299T>G (p.Asp4433Glu) c.13263T>G (p.Asp4421Glu) c.10116T>G (p.Asp3372Glu) c.9720T>G (p.Asp3240Glu) | |
7 | g.152148697A>G | CA458885006 | KMT2C | c.1418T>C n.2362T>C c.13401T>C (p.Asp4467=) n.2530T>C n.8422T>C c.3803T>C c.10740T>C (p.Asp3580=) n.4860T>C c.3875T>C n.1996T>C n.1946T>C c.1647T>C (p.Asp549=) c.8127T>C (p.Asp2709=) c.13230T>C (p.Asp4410=) c.9017T>C c.3872T>C c.3806T>C n.7941T>C c.8130T>C (p.Asp2710=) c.12795T>C (p.Asp4265=) c.3807T>C n.2245T>C c.5911T>C c.3081T>C (p.Asp1027=) n.11112T>C c.*10750T>C (n.*10750T>C) c.13446T>C (p.Asp4482=) c.13443T>C (p.Asp4481=) c.13281T>C (p.Asp4427=) c.13374T>C (p.Asp4458=) c.13278T>C (p.Asp4426=) c.13398T>C (p.Asp4466=) c.13326T>C (p.Asp4442=) c.13293T>C (p.Asp4431=) c.13209T>C (p.Asp4403=) c.12531T>C (p.Asp4177=) c.10992T>C (p.Asp3664=) c.13413T>C (p.Asp4471=) c.13395T>C (p.Asp4465=) c.13371T>C (p.Asp4457=) c.13299T>C (p.Asp4433=) c.13263T>C (p.Asp4421=) c.10116T>C (p.Asp3372=) c.9720T>C (p.Asp3240=) | |
7 | g.152148697A>T | CA370091923 | KMT2C | c.1418T>A n.2362T>A c.13401T>A (p.Asp4467Glu) n.2530T>A n.8422T>A c.3803T>A c.10740T>A (p.Asp3580Glu) n.4860T>A c.3875T>A n.1996T>A n.1946T>A c.1647T>A (p.Asp549Glu) c.8127T>A (p.Asp2709Glu) c.13230T>A (p.Asp4410Glu) c.9017T>A c.3872T>A c.3806T>A n.7941T>A c.8130T>A (p.Asp2710Glu) c.12795T>A (p.Asp4265Glu) c.3807T>A n.2245T>A c.5911T>A c.3081T>A (p.Asp1027Glu) n.11112T>A c.*10750T>A (n.*10750T>A) c.13446T>A (p.Asp4482Glu) c.13443T>A (p.Asp4481Glu) c.13281T>A (p.Asp4427Glu) c.13374T>A (p.Asp4458Glu) c.13278T>A (p.Asp4426Glu) c.13398T>A (p.Asp4466Glu) c.13326T>A (p.Asp4442Glu) c.13293T>A (p.Asp4431Glu) c.13209T>A (p.Asp4403Glu) c.12531T>A (p.Asp4177Glu) c.10992T>A (p.Asp3664Glu) c.13413T>A (p.Asp4471Glu) c.13395T>A (p.Asp4465Glu) c.13371T>A (p.Asp4457Glu) c.13299T>A (p.Asp4433Glu) c.13263T>A (p.Asp4421Glu) c.10116T>A (p.Asp3372Glu) c.9720T>A (p.Asp3240Glu) | |
7 | g.152148698T>A | CA370091926 | KMT2C | c.1417A>T n.2361A>T c.13400A>T (p.Asp4467Val) n.2529A>T n.8421A>T c.3802A>T c.10739A>T (p.Asp3580Val) n.4859A>T c.3874A>T n.1995A>T n.1945A>T c.1646A>T (p.Asp549Val) c.8126A>T (p.Asp2709Val) c.13229A>T (p.Asp4410Val) c.9016A>T c.3871A>T c.3805A>T n.7940A>T c.8129A>T (p.Asp2710Val) c.12794A>T (p.Asp4265Val) c.3806A>T n.2244A>T c.5910A>T c.3080A>T (p.Asp1027Val) n.11111A>T c.*10749A>T (n.*10749A>T) c.13445A>T (p.Asp4482Val) c.13442A>T (p.Asp4481Val) c.13280A>T (p.Asp4427Val) c.13373A>T (p.Asp4458Val) c.13277A>T (p.Asp4426Val) c.13397A>T (p.Asp4466Val) c.13325A>T (p.Asp4442Val) c.13292A>T (p.Asp4431Val) c.13208A>T (p.Asp4403Val) c.12530A>T (p.Asp4177Val) c.10991A>T (p.Asp3664Val) c.13412A>T (p.Asp4471Val) c.13394A>T (p.Asp4465Val) c.13370A>T (p.Asp4457Val) c.13298A>T (p.Asp4433Val) c.13262A>T (p.Asp4421Val) c.10115A>T (p.Asp3372Val) c.9719A>T (p.Asp3240Val) | |
7 | g.152148698T>C | CA370091927 | KMT2C | c.1417A>G n.2361A>G c.13400A>G (p.Asp4467Gly) n.2529A>G n.8421A>G c.3802A>G c.10739A>G (p.Asp3580Gly) n.4859A>G c.3874A>G n.1995A>G n.1945A>G c.1646A>G (p.Asp549Gly) c.8126A>G (p.Asp2709Gly) c.13229A>G (p.Asp4410Gly) c.9016A>G c.3871A>G c.3805A>G n.7940A>G c.8129A>G (p.Asp2710Gly) c.12794A>G (p.Asp4265Gly) c.3806A>G n.2244A>G c.5910A>G c.3080A>G (p.Asp1027Gly) n.11111A>G c.*10749A>G (n.*10749A>G) c.13445A>G (p.Asp4482Gly) c.13442A>G (p.Asp4481Gly) c.13280A>G (p.Asp4427Gly) c.13373A>G (p.Asp4458Gly) c.13277A>G (p.Asp4426Gly) c.13397A>G (p.Asp4466Gly) c.13325A>G (p.Asp4442Gly) c.13292A>G (p.Asp4431Gly) c.13208A>G (p.Asp4403Gly) c.12530A>G (p.Asp4177Gly) c.10991A>G (p.Asp3664Gly) c.13412A>G (p.Asp4471Gly) c.13394A>G (p.Asp4465Gly) c.13370A>G (p.Asp4457Gly) c.13298A>G (p.Asp4433Gly) c.13262A>G (p.Asp4421Gly) c.10115A>G (p.Asp3372Gly) c.9719A>G (p.Asp3240Gly) | |
7 | g.152148698T>G | CA370091930 | KMT2C | c.1417A>C n.2361A>C c.13400A>C (p.Asp4467Ala) n.2529A>C n.8421A>C c.3802A>C c.10739A>C (p.Asp3580Ala) n.4859A>C c.3874A>C n.1995A>C n.1945A>C c.1646A>C (p.Asp549Ala) c.8126A>C (p.Asp2709Ala) c.13229A>C (p.Asp4410Ala) c.9016A>C c.3871A>C c.3805A>C n.7940A>C c.8129A>C (p.Asp2710Ala) c.12794A>C (p.Asp4265Ala) c.3806A>C n.2244A>C c.5910A>C c.3080A>C (p.Asp1027Ala) n.11111A>C c.*10749A>C (n.*10749A>C) c.13445A>C (p.Asp4482Ala) c.13442A>C (p.Asp4481Ala) c.13280A>C (p.Asp4427Ala) c.13373A>C (p.Asp4458Ala) c.13277A>C (p.Asp4426Ala) c.13397A>C (p.Asp4466Ala) c.13325A>C (p.Asp4442Ala) c.13292A>C (p.Asp4431Ala) c.13208A>C (p.Asp4403Ala) c.12530A>C (p.Asp4177Ala) c.10991A>C (p.Asp3664Ala) c.13412A>C (p.Asp4471Ala) c.13394A>C (p.Asp4465Ala) c.13370A>C (p.Asp4457Ala) c.13298A>C (p.Asp4433Ala) c.13262A>C (p.Asp4421Ala) c.10115A>C (p.Asp3372Ala) c.9719A>C (p.Asp3240Ala) | |
7 | g.152148699C>A | CA370091934 | KMT2C | c.1416G>T n.2360G>T c.13399G>T (p.Asp4467Tyr) n.2528G>T n.8420G>T c.3801G>T c.10738G>T (p.Asp3580Tyr) n.4858G>T c.3873G>T n.1994G>T n.1944G>T c.1645G>T (p.Asp549Tyr) c.8125G>T (p.Asp2709Tyr) c.13228G>T (p.Asp4410Tyr) c.9015G>T c.3870G>T c.3804G>T n.7939G>T c.8128G>T (p.Asp2710Tyr) c.12793G>T (p.Asp4265Tyr) c.3805G>T n.2243G>T c.5909G>T c.3079G>T (p.Asp1027Tyr) n.11110G>T c.*10748G>T (n.*10748G>T) c.13444G>T (p.Asp4482Tyr) c.13441G>T (p.Asp4481Tyr) c.13279G>T (p.Asp4427Tyr) c.13372G>T (p.Asp4458Tyr) c.13276G>T (p.Asp4426Tyr) c.13396G>T (p.Asp4466Tyr) c.13324G>T (p.Asp4442Tyr) c.13291G>T (p.Asp4431Tyr) c.13207G>T (p.Asp4403Tyr) c.12529G>T (p.Asp4177Tyr) c.10990G>T (p.Asp3664Tyr) c.13411G>T (p.Asp4471Tyr) c.13393G>T (p.Asp4465Tyr) c.13369G>T (p.Asp4457Tyr) c.13297G>T (p.Asp4433Tyr) c.13261G>T (p.Asp4421Tyr) c.10114G>T (p.Asp3372Tyr) c.9718G>T (p.Asp3240Tyr) | |
7 | g.152148699C>G | CA370091937 | KMT2C | c.1416G>C n.2360G>C c.13399G>C (p.Asp4467His) n.2528G>C n.8420G>C c.3801G>C c.10738G>C (p.Asp3580His) n.4858G>C c.3873G>C n.1994G>C n.1944G>C c.1645G>C (p.Asp549His) c.8125G>C (p.Asp2709His) c.13228G>C (p.Asp4410His) c.9015G>C c.3870G>C c.3804G>C n.7939G>C c.8128G>C (p.Asp2710His) c.12793G>C (p.Asp4265His) c.3805G>C n.2243G>C c.5909G>C c.3079G>C (p.Asp1027His) n.11110G>C c.*10748G>C (n.*10748G>C) c.13444G>C (p.Asp4482His) c.13441G>C (p.Asp4481His) c.13279G>C (p.Asp4427His) c.13372G>C (p.Asp4458His) c.13276G>C (p.Asp4426His) c.13396G>C (p.Asp4466His) c.13324G>C (p.Asp4442His) c.13291G>C (p.Asp4431His) c.13207G>C (p.Asp4403His) c.12529G>C (p.Asp4177His) c.10990G>C (p.Asp3664His) c.13411G>C (p.Asp4471His) c.13393G>C (p.Asp4465His) c.13369G>C (p.Asp4457His) c.13297G>C (p.Asp4433His) c.13261G>C (p.Asp4421His) c.10114G>C (p.Asp3372His) c.9718G>C (p.Asp3240His) | |
7 | g.152148699C>T | CA370091938 | KMT2C | c.1416G>A n.2360G>A c.13399G>A (p.Asp4467Asn) n.2528G>A n.8420G>A c.3801G>A c.10738G>A (p.Asp3580Asn) n.4858G>A c.3873G>A n.1994G>A n.1944G>A c.1645G>A (p.Asp549Asn) c.8125G>A (p.Asp2709Asn) c.13228G>A (p.Asp4410Asn) c.9015G>A c.3870G>A c.3804G>A n.7939G>A c.8128G>A (p.Asp2710Asn) c.12793G>A (p.Asp4265Asn) c.3805G>A n.2243G>A c.5909G>A c.3079G>A (p.Asp1027Asn) n.11110G>A c.*10748G>A (n.*10748G>A) c.13444G>A (p.Asp4482Asn) c.13441G>A (p.Asp4481Asn) c.13279G>A (p.Asp4427Asn) c.13372G>A (p.Asp4458Asn) c.13276G>A (p.Asp4426Asn) c.13396G>A (p.Asp4466Asn) c.13324G>A (p.Asp4442Asn) c.13291G>A (p.Asp4431Asn) c.13207G>A (p.Asp4403Asn) c.12529G>A (p.Asp4177Asn) c.10990G>A (p.Asp3664Asn) c.13411G>A (p.Asp4471Asn) c.13393G>A (p.Asp4465Asn) c.13369G>A (p.Asp4457Asn) c.13297G>A (p.Asp4433Asn) c.13261G>A (p.Asp4421Asn) c.10114G>A (p.Asp3372Asn) c.9718G>A (p.Asp3240Asn) | |
7 | g.152148700A>C | CA458885009 | KMT2C | c.1415T>G n.2359T>G c.13398T>G (p.Gly4466=) n.2527T>G n.8419T>G c.3800T>G c.10737T>G (p.Gly3579=) n.4857T>G c.3872T>G n.1993T>G n.1943T>G c.1644T>G (p.Gly548=) c.8124T>G (p.Gly2708=) c.13227T>G (p.Gly4409=) c.9014T>G c.3869T>G c.3803T>G n.7938T>G c.8127T>G (p.Gly2709=) c.12792T>G (p.Gly4264=) c.3804T>G n.2242T>G c.5908T>G c.3078T>G (p.Gly1026=) n.11109T>G c.*10747T>G (n.*10747T>G) c.13443T>G (p.Gly4481=) c.13440T>G (p.Gly4480=) c.13278T>G (p.Gly4426=) c.13371T>G (p.Gly4457=) c.13275T>G (p.Gly4425=) c.13395T>G (p.Gly4465=) c.13323T>G (p.Gly4441=) c.13290T>G (p.Gly4430=) c.13206T>G (p.Gly4402=) c.12528T>G (p.Gly4176=) c.10989T>G (p.Gly3663=) c.13410T>G (p.Gly4470=) c.13392T>G (p.Gly4464=) c.13368T>G (p.Gly4456=) c.13296T>G (p.Gly4432=) c.13260T>G (p.Gly4420=) c.10113T>G (p.Gly3371=) c.9717T>G (p.Gly3239=) | |
7 | g.152148700A>G | CA458885011 | KMT2C | c.1415T>C n.2359T>C c.13398T>C (p.Gly4466=) n.2527T>C n.8419T>C c.3800T>C c.10737T>C (p.Gly3579=) n.4857T>C c.3872T>C n.1993T>C n.1943T>C c.1644T>C (p.Gly548=) c.8124T>C (p.Gly2708=) c.13227T>C (p.Gly4409=) c.9014T>C c.3869T>C c.3803T>C n.7938T>C c.8127T>C (p.Gly2709=) c.12792T>C (p.Gly4264=) c.3804T>C n.2242T>C c.5908T>C c.3078T>C (p.Gly1026=) n.11109T>C c.*10747T>C (n.*10747T>C) c.13443T>C (p.Gly4481=) c.13440T>C (p.Gly4480=) c.13278T>C (p.Gly4426=) c.13371T>C (p.Gly4457=) c.13275T>C (p.Gly4425=) c.13395T>C (p.Gly4465=) c.13323T>C (p.Gly4441=) c.13290T>C (p.Gly4430=) c.13206T>C (p.Gly4402=) c.12528T>C (p.Gly4176=) c.10989T>C (p.Gly3663=) c.13410T>C (p.Gly4470=) c.13392T>C (p.Gly4464=) c.13368T>C (p.Gly4456=) c.13296T>C (p.Gly4432=) c.13260T>C (p.Gly4420=) c.10113T>C (p.Gly3371=) c.9717T>C (p.Gly3239=) | |
7 | g.152148700A>T | CA458885013 | KMT2C | c.1415T>A n.2359T>A c.13398T>A (p.Gly4466=) n.2527T>A n.8419T>A c.3800T>A c.10737T>A (p.Gly3579=) n.4857T>A c.3872T>A n.1993T>A n.1943T>A c.1644T>A (p.Gly548=) c.8124T>A (p.Gly2708=) c.13227T>A (p.Gly4409=) c.9014T>A c.3869T>A c.3803T>A n.7938T>A c.8127T>A (p.Gly2709=) c.12792T>A (p.Gly4264=) c.3804T>A n.2242T>A c.5908T>A c.3078T>A (p.Gly1026=) n.11109T>A c.*10747T>A (n.*10747T>A) c.13443T>A (p.Gly4481=) c.13440T>A (p.Gly4480=) c.13278T>A (p.Gly4426=) c.13371T>A (p.Gly4457=) c.13275T>A (p.Gly4425=) c.13395T>A (p.Gly4465=) c.13323T>A (p.Gly4441=) c.13290T>A (p.Gly4430=) c.13206T>A (p.Gly4402=) c.12528T>A (p.Gly4176=) c.10989T>A (p.Gly3663=) c.13410T>A (p.Gly4470=) c.13392T>A (p.Gly4464=) c.13368T>A (p.Gly4456=) c.13296T>A (p.Gly4432=) c.13260T>A (p.Gly4420=) c.10113T>A (p.Gly3371=) c.9717T>A (p.Gly3239=) | |
7 | g.152148701C>A | CA370091941 | KMT2C | c.1414G>T n.2358G>T c.13397G>T (p.Gly4466Val) n.2526G>T n.8418G>T c.3799G>T c.10736G>T (p.Gly3579Val) n.4856G>T c.3871G>T n.1992G>T n.1942G>T c.1643G>T (p.Gly548Val) c.8123G>T (p.Gly2708Val) c.13226G>T (p.Gly4409Val) c.9013G>T c.3868G>T c.3802G>T n.7937G>T c.8126G>T (p.Gly2709Val) c.12791G>T (p.Gly4264Val) c.3803G>T n.2241G>T c.5907G>T c.3077G>T (p.Gly1026Val) n.11108G>T c.*10746G>T (n.*10746G>T) c.13442G>T (p.Gly4481Val) c.13439G>T (p.Gly4480Val) c.13277G>T (p.Gly4426Val) c.13370G>T (p.Gly4457Val) c.13274G>T (p.Gly4425Val) c.13394G>T (p.Gly4465Val) c.13322G>T (p.Gly4441Val) c.13289G>T (p.Gly4430Val) c.13205G>T (p.Gly4402Val) c.12527G>T (p.Gly4176Val) c.10988G>T (p.Gly3663Val) c.13409G>T (p.Gly4470Val) c.13391G>T (p.Gly4464Val) c.13367G>T (p.Gly4456Val) c.13295G>T (p.Gly4432Val) c.13259G>T (p.Gly4420Val) c.10112G>T (p.Gly3371Val) c.9716G>T (p.Gly3239Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.152148701C>G | CA370091942 | KMT2C | c.1414G>C n.2358G>C c.13397G>C (p.Gly4466Ala) n.2526G>C n.8418G>C c.3799G>C c.10736G>C (p.Gly3579Ala) n.4856G>C c.3871G>C n.1992G>C n.1942G>C c.1643G>C (p.Gly548Ala) c.8123G>C (p.Gly2708Ala) c.13226G>C (p.Gly4409Ala) c.9013G>C c.3868G>C c.3802G>C n.7937G>C c.8126G>C (p.Gly2709Ala) c.12791G>C (p.Gly4264Ala) c.3803G>C n.2241G>C c.5907G>C c.3077G>C (p.Gly1026Ala) n.11108G>C c.*10746G>C (n.*10746G>C) c.13442G>C (p.Gly4481Ala) c.13439G>C (p.Gly4480Ala) c.13277G>C (p.Gly4426Ala) c.13370G>C (p.Gly4457Ala) c.13274G>C (p.Gly4425Ala) c.13394G>C (p.Gly4465Ala) c.13322G>C (p.Gly4441Ala) c.13289G>C (p.Gly4430Ala) c.13205G>C (p.Gly4402Ala) c.12527G>C (p.Gly4176Ala) c.10988G>C (p.Gly3663Ala) c.13409G>C (p.Gly4470Ala) c.13391G>C (p.Gly4464Ala) c.13367G>C (p.Gly4456Ala) c.13295G>C (p.Gly4432Ala) c.13259G>C (p.Gly4420Ala) c.10112G>C (p.Gly3371Ala) c.9716G>C (p.Gly3239Ala) | |
7 | g.152148701C>T | CA370091945 | KMT2C | c.1414G>A n.2358G>A c.13397G>A (p.Gly4466Asp) n.2526G>A n.8418G>A c.3799G>A c.10736G>A (p.Gly3579Asp) n.4856G>A c.3871G>A n.1992G>A n.1942G>A c.1643G>A (p.Gly548Asp) c.8123G>A (p.Gly2708Asp) c.13226G>A (p.Gly4409Asp) c.9013G>A c.3868G>A c.3802G>A n.7937G>A c.8126G>A (p.Gly2709Asp) c.12791G>A (p.Gly4264Asp) c.3803G>A n.2241G>A c.5907G>A c.3077G>A (p.Gly1026Asp) n.11108G>A c.*10746G>A (n.*10746G>A) c.13442G>A (p.Gly4481Asp) c.13439G>A (p.Gly4480Asp) c.13277G>A (p.Gly4426Asp) c.13370G>A (p.Gly4457Asp) c.13274G>A (p.Gly4425Asp) c.13394G>A (p.Gly4465Asp) c.13322G>A (p.Gly4441Asp) c.13289G>A (p.Gly4430Asp) c.13205G>A (p.Gly4402Asp) c.12527G>A (p.Gly4176Asp) c.10988G>A (p.Gly3663Asp) c.13409G>A (p.Gly4470Asp) c.13391G>A (p.Gly4464Asp) c.13367G>A (p.Gly4456Asp) c.13295G>A (p.Gly4432Asp) c.13259G>A (p.Gly4420Asp) c.10112G>A (p.Gly3371Asp) c.9716G>A (p.Gly3239Asp) | |
7 | g.152148702C>A | CA370091952 | KMT2C | c.1413G>T n.2357G>T c.13396G>T (p.Gly4466Cys) n.2525G>T n.8417G>T c.3798G>T c.10735G>T (p.Gly3579Cys) n.4855G>T c.3870G>T n.1991G>T n.1941G>T c.1642G>T (p.Gly548Cys) c.8122G>T (p.Gly2708Cys) c.13225G>T (p.Gly4409Cys) c.9012G>T c.3867G>T c.3801G>T n.7936G>T c.8125G>T (p.Gly2709Cys) c.12790G>T (p.Gly4264Cys) c.3802G>T n.2240G>T c.5906G>T c.3076G>T (p.Gly1026Cys) n.11107G>T c.*10745G>T (n.*10745G>T) c.13441G>T (p.Gly4481Cys) c.13438G>T (p.Gly4480Cys) c.13276G>T (p.Gly4426Cys) c.13369G>T (p.Gly4457Cys) c.13273G>T (p.Gly4425Cys) c.13393G>T (p.Gly4465Cys) c.13321G>T (p.Gly4441Cys) c.13288G>T (p.Gly4430Cys) c.13204G>T (p.Gly4402Cys) c.12526G>T (p.Gly4176Cys) c.10987G>T (p.Gly3663Cys) c.13408G>T (p.Gly4470Cys) c.13390G>T (p.Gly4464Cys) c.13366G>T (p.Gly4456Cys) c.13294G>T (p.Gly4432Cys) c.13258G>T (p.Gly4420Cys) c.10111G>T (p.Gly3371Cys) c.9715G>T (p.Gly3239Cys) | |
7 | g.152148702C>G | CA370091951 | KMT2C | c.1413G>C n.2357G>C c.13396G>C (p.Gly4466Arg) n.2525G>C n.8417G>C c.3798G>C c.10735G>C (p.Gly3579Arg) n.4855G>C c.3870G>C n.1991G>C n.1941G>C c.1642G>C (p.Gly548Arg) c.8122G>C (p.Gly2708Arg) c.13225G>C (p.Gly4409Arg) c.9012G>C c.3867G>C c.3801G>C n.7936G>C c.8125G>C (p.Gly2709Arg) c.12790G>C (p.Gly4264Arg) c.3802G>C n.2240G>C c.5906G>C c.3076G>C (p.Gly1026Arg) n.11107G>C c.*10745G>C (n.*10745G>C) c.13441G>C (p.Gly4481Arg) c.13438G>C (p.Gly4480Arg) c.13276G>C (p.Gly4426Arg) c.13369G>C (p.Gly4457Arg) c.13273G>C (p.Gly4425Arg) c.13393G>C (p.Gly4465Arg) c.13321G>C (p.Gly4441Arg) c.13288G>C (p.Gly4430Arg) c.13204G>C (p.Gly4402Arg) c.12526G>C (p.Gly4176Arg) c.10987G>C (p.Gly3663Arg) c.13408G>C (p.Gly4470Arg) c.13390G>C (p.Gly4464Arg) c.13366G>C (p.Gly4456Arg) c.13294G>C (p.Gly4432Arg) c.13258G>C (p.Gly4420Arg) c.10111G>C (p.Gly3371Arg) c.9715G>C (p.Gly3239Arg) | |
7 | g.152148702C>T | CA370091948 | KMT2C | c.1413G>A n.2357G>A c.13396G>A (p.Gly4466Ser) n.2525G>A n.8417G>A c.3798G>A c.10735G>A (p.Gly3579Ser) n.4855G>A c.3870G>A n.1991G>A n.1941G>A c.1642G>A (p.Gly548Ser) c.8122G>A (p.Gly2708Ser) c.13225G>A (p.Gly4409Ser) c.9012G>A c.3867G>A c.3801G>A n.7936G>A c.8125G>A (p.Gly2709Ser) c.12790G>A (p.Gly4264Ser) c.3802G>A n.2240G>A c.5906G>A c.3076G>A (p.Gly1026Ser) n.11107G>A c.*10745G>A (n.*10745G>A) c.13441G>A (p.Gly4481Ser) c.13438G>A (p.Gly4480Ser) c.13276G>A (p.Gly4426Ser) c.13369G>A (p.Gly4457Ser) c.13273G>A (p.Gly4425Ser) c.13393G>A (p.Gly4465Ser) c.13321G>A (p.Gly4441Ser) c.13288G>A (p.Gly4430Ser) c.13204G>A (p.Gly4402Ser) c.12526G>A (p.Gly4176Ser) c.10987G>A (p.Gly3663Ser) c.13408G>A (p.Gly4470Ser) c.13390G>A (p.Gly4464Ser) c.13366G>A (p.Gly4456Ser) c.13294G>A (p.Gly4432Ser) c.13258G>A (p.Gly4420Ser) c.10111G>A (p.Gly3371Ser) c.9715G>A (p.Gly3239Ser) | |
7 | g.152148703T>A | CA370091955 | KMT2C | c.1412A>T n.2356A>T c.13395A>T (p.Glu4465Asp) n.2524A>T n.8416A>T c.3797A>T c.10734A>T (p.Glu3578Asp) n.4854A>T c.3869A>T n.1990A>T n.1940A>T c.1641A>T (p.Glu547Asp) c.8121A>T (p.Glu2707Asp) c.13224A>T (p.Glu4408Asp) c.9011A>T c.3866A>T c.3800A>T n.7935A>T c.8124A>T (p.Glu2708Asp) c.12789A>T (p.Glu4263Asp) c.3801A>T n.2239A>T c.5905A>T c.3075A>T (p.Glu1025Asp) n.11106A>T c.*10744A>T (n.*10744A>T) c.13440A>T (p.Glu4480Asp) c.13437A>T (p.Glu4479Asp) c.13275A>T (p.Glu4425Asp) c.13368A>T (p.Glu4456Asp) c.13272A>T (p.Glu4424Asp) c.13392A>T (p.Glu4464Asp) c.13320A>T (p.Glu4440Asp) c.13287A>T (p.Glu4429Asp) c.13203A>T (p.Glu4401Asp) c.12525A>T (p.Glu4175Asp) c.10986A>T (p.Glu3662Asp) c.13407A>T (p.Glu4469Asp) c.13389A>T (p.Glu4463Asp) c.13365A>T (p.Glu4455Asp) c.13293A>T (p.Glu4431Asp) c.13257A>T (p.Glu4419Asp) c.10110A>T (p.Glu3370Asp) c.9714A>T (p.Glu3238Asp) | |
7 | g.152148703T>C | CA458885018 | KMT2C | c.1412A>G n.2356A>G c.13395A>G (p.Glu4465=) n.2524A>G n.8416A>G c.3797A>G c.10734A>G (p.Glu3578=) n.4854A>G c.3869A>G n.1990A>G n.1940A>G c.1641A>G (p.Glu547=) c.8121A>G (p.Glu2707=) c.13224A>G (p.Glu4408=) c.9011A>G c.3866A>G c.3800A>G n.7935A>G c.8124A>G (p.Glu2708=) c.12789A>G (p.Glu4263=) c.3801A>G n.2239A>G c.5905A>G c.3075A>G (p.Glu1025=) n.11106A>G c.*10744A>G (n.*10744A>G) c.13440A>G (p.Glu4480=) c.13437A>G (p.Glu4479=) c.13275A>G (p.Glu4425=) c.13368A>G (p.Glu4456=) c.13272A>G (p.Glu4424=) c.13392A>G (p.Glu4464=) c.13320A>G (p.Glu4440=) c.13287A>G (p.Glu4429=) c.13203A>G (p.Glu4401=) c.12525A>G (p.Glu4175=) c.10986A>G (p.Glu3662=) c.13407A>G (p.Glu4469=) c.13389A>G (p.Glu4463=) c.13365A>G (p.Glu4455=) c.13293A>G (p.Glu4431=) c.13257A>G (p.Glu4419=) c.10110A>G (p.Glu3370=) c.9714A>G (p.Glu3238=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148703T>G | CA370091957 | KMT2C | c.1412A>C n.2356A>C c.13395A>C (p.Glu4465Asp) n.2524A>C n.8416A>C c.3797A>C c.10734A>C (p.Glu3578Asp) n.4854A>C c.3869A>C n.1990A>C n.1940A>C c.1641A>C (p.Glu547Asp) c.8121A>C (p.Glu2707Asp) c.13224A>C (p.Glu4408Asp) c.9011A>C c.3866A>C c.3800A>C n.7935A>C c.8124A>C (p.Glu2708Asp) c.12789A>C (p.Glu4263Asp) c.3801A>C n.2239A>C c.5905A>C c.3075A>C (p.Glu1025Asp) n.11106A>C c.*10744A>C (n.*10744A>C) c.13440A>C (p.Glu4480Asp) c.13437A>C (p.Glu4479Asp) c.13275A>C (p.Glu4425Asp) c.13368A>C (p.Glu4456Asp) c.13272A>C (p.Glu4424Asp) c.13392A>C (p.Glu4464Asp) c.13320A>C (p.Glu4440Asp) c.13287A>C (p.Glu4429Asp) c.13203A>C (p.Glu4401Asp) c.12525A>C (p.Glu4175Asp) c.10986A>C (p.Glu3662Asp) c.13407A>C (p.Glu4469Asp) c.13389A>C (p.Glu4463Asp) c.13365A>C (p.Glu4455Asp) c.13293A>C (p.Glu4431Asp) c.13257A>C (p.Glu4419Asp) c.10110A>C (p.Glu3370Asp) c.9714A>C (p.Glu3238Asp) | |
7 | g.152148703T= | CA1752986171 | KMT2C | c.1412A= n.2356A= c.13395A= (p.Glu4465=) n.2524A= n.8416A= c.3797A= c.10734A= (p.Glu3578=) n.4854A= c.3869A= n.1990A= n.1940A= c.1641A= (p.Glu547=) c.8121A= (p.Glu2707=) c.13224A= (p.Glu4408=) c.9011A= c.3866A= c.3800A= n.7935A= c.8124A= (p.Glu2708=) c.12789A= (p.Glu4263=) c.3801A= n.2239A= c.5905A= c.3075A= (p.Glu1025=) n.11106A= c.*10744A= (n.*10744A=) c.13440A= (p.Glu4480=) c.13437A= (p.Glu4479=) c.13275A= (p.Glu4425=) c.13368A= (p.Glu4456=) c.13272A= (p.Glu4424=) c.13392A= (p.Glu4464=) c.13320A= (p.Glu4440=) c.13287A= (p.Glu4429=) c.13203A= (p.Glu4401=) c.12525A= (p.Glu4175=) c.10986A= (p.Glu3662=) c.13407A= (p.Glu4469=) c.13389A= (p.Glu4463=) c.13365A= (p.Glu4455=) c.13293A= (p.Glu4431=) c.13257A= (p.Glu4419=) c.10110A= (p.Glu3370=) c.9714A= (p.Glu3238=) | |
7 | g.152148704T>A | CA370091960 | KMT2C | c.1411A>T n.2355A>T c.13394A>T (p.Glu4465Val) n.2523A>T n.8415A>T c.3796A>T c.10733A>T (p.Glu3578Val) n.4853A>T c.3868A>T n.1989A>T n.1939A>T c.1640A>T (p.Glu547Val) c.8120A>T (p.Glu2707Val) c.13223A>T (p.Glu4408Val) c.9010A>T c.3865A>T c.3799A>T n.7934A>T c.8123A>T (p.Glu2708Val) c.12788A>T (p.Glu4263Val) c.3800A>T n.2238A>T c.5904A>T c.3074A>T (p.Glu1025Val) n.11105A>T c.*10743A>T (n.*10743A>T) c.13439A>T (p.Glu4480Val) c.13436A>T (p.Glu4479Val) c.13274A>T (p.Glu4425Val) c.13367A>T (p.Glu4456Val) c.13271A>T (p.Glu4424Val) c.13391A>T (p.Glu4464Val) c.13319A>T (p.Glu4440Val) c.13286A>T (p.Glu4429Val) c.13202A>T (p.Glu4401Val) c.12524A>T (p.Glu4175Val) c.10985A>T (p.Glu3662Val) c.13406A>T (p.Glu4469Val) c.13388A>T (p.Glu4463Val) c.13364A>T (p.Glu4455Val) c.13292A>T (p.Glu4431Val) c.13256A>T (p.Glu4419Val) c.10109A>T (p.Glu3370Val) c.9713A>T (p.Glu3238Val) | |
7 | g.152148704T>C | CA4578653 | KMT2C | c.1411A>G n.2355A>G c.13394A>G (p.Glu4465Gly) n.2523A>G n.8415A>G c.3796A>G c.10733A>G (p.Glu3578Gly) n.4853A>G c.3868A>G n.1989A>G n.1939A>G c.1640A>G (p.Glu547Gly) c.8120A>G (p.Glu2707Gly) c.13223A>G (p.Glu4408Gly) c.9010A>G c.3865A>G c.3799A>G n.7934A>G c.8123A>G (p.Glu2708Gly) c.12788A>G (p.Glu4263Gly) c.3800A>G n.2238A>G c.5904A>G c.3074A>G (p.Glu1025Gly) n.11105A>G c.*10743A>G (n.*10743A>G) c.13439A>G (p.Glu4480Gly) c.13436A>G (p.Glu4479Gly) c.13274A>G (p.Glu4425Gly) c.13367A>G (p.Glu4456Gly) c.13271A>G (p.Glu4424Gly) c.13391A>G (p.Glu4464Gly) c.13319A>G (p.Glu4440Gly) c.13286A>G (p.Glu4429Gly) c.13202A>G (p.Glu4401Gly) c.12524A>G (p.Glu4175Gly) c.10985A>G (p.Glu3662Gly) c.13406A>G (p.Glu4469Gly) c.13388A>G (p.Glu4463Gly) c.13364A>G (p.Glu4455Gly) c.13292A>G (p.Glu4431Gly) c.13256A>G (p.Glu4419Gly) c.10109A>G (p.Glu3370Gly) c.9713A>G (p.Glu3238Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148704T>G | CA370091964 | KMT2C | c.1411A>C n.2355A>C c.13394A>C (p.Glu4465Ala) n.2523A>C n.8415A>C c.3796A>C c.10733A>C (p.Glu3578Ala) n.4853A>C c.3868A>C n.1989A>C n.1939A>C c.1640A>C (p.Glu547Ala) c.8120A>C (p.Glu2707Ala) c.13223A>C (p.Glu4408Ala) c.9010A>C c.3865A>C c.3799A>C n.7934A>C c.8123A>C (p.Glu2708Ala) c.12788A>C (p.Glu4263Ala) c.3800A>C n.2238A>C c.5904A>C c.3074A>C (p.Glu1025Ala) n.11105A>C c.*10743A>C (n.*10743A>C) c.13439A>C (p.Glu4480Ala) c.13436A>C (p.Glu4479Ala) c.13274A>C (p.Glu4425Ala) c.13367A>C (p.Glu4456Ala) c.13271A>C (p.Glu4424Ala) c.13391A>C (p.Glu4464Ala) c.13319A>C (p.Glu4440Ala) c.13286A>C (p.Glu4429Ala) c.13202A>C (p.Glu4401Ala) c.12524A>C (p.Glu4175Ala) c.10985A>C (p.Glu3662Ala) c.13406A>C (p.Glu4469Ala) c.13388A>C (p.Glu4463Ala) c.13364A>C (p.Glu4455Ala) c.13292A>C (p.Glu4431Ala) c.13256A>C (p.Glu4419Ala) c.10109A>C (p.Glu3370Ala) c.9713A>C (p.Glu3238Ala) | |
7 | g.152148704T= | CA1752986178 | KMT2C | c.1411A= n.2355A= c.13394A= (p.Glu4465=) n.2523A= n.8415A= c.3796A= c.10733A= (p.Glu3578=) n.4853A= c.3868A= n.1989A= n.1939A= c.1640A= (p.Glu547=) c.8120A= (p.Glu2707=) c.13223A= (p.Glu4408=) c.9010A= c.3865A= c.3799A= n.7934A= c.8123A= (p.Glu2708=) c.12788A= (p.Glu4263=) c.3800A= n.2238A= c.5904A= c.3074A= (p.Glu1025=) n.11105A= c.*10743A= (n.*10743A=) c.13439A= (p.Glu4480=) c.13436A= (p.Glu4479=) c.13274A= (p.Glu4425=) c.13367A= (p.Glu4456=) c.13271A= (p.Glu4424=) c.13391A= (p.Glu4464=) c.13319A= (p.Glu4440=) c.13286A= (p.Glu4429=) c.13202A= (p.Glu4401=) c.12524A= (p.Glu4175=) c.10985A= (p.Glu3662=) c.13406A= (p.Glu4469=) c.13388A= (p.Glu4463=) c.13364A= (p.Glu4455=) c.13292A= (p.Glu4431=) c.13256A= (p.Glu4419=) c.10109A= (p.Glu3370=) c.9713A= (p.Glu3238=) | |
7 | g.152148705C>A | CA370091967 | KMT2C | c.1410G>T n.2354G>T c.13393G>T (p.Glu4465Ter) n.2522G>T n.8414G>T c.3795G>T c.10732G>T (p.Glu3578Ter) n.4852G>T c.3867G>T n.1988G>T n.1938G>T c.1639G>T (p.Glu547Ter) c.8119G>T (p.Glu2707Ter) c.13222G>T (p.Glu4408Ter) c.9009G>T c.3864G>T c.3798G>T n.7933G>T c.8122G>T (p.Glu2708Ter) c.12787G>T (p.Glu4263Ter) c.3799G>T n.2237G>T c.5903G>T c.3073G>T (p.Glu1025Ter) n.11104G>T c.*10742G>T (n.*10742G>T) c.13438G>T (p.Glu4480Ter) c.13435G>T (p.Glu4479Ter) c.13273G>T (p.Glu4425Ter) c.13366G>T (p.Glu4456Ter) c.13270G>T (p.Glu4424Ter) c.13390G>T (p.Glu4464Ter) c.13318G>T (p.Glu4440Ter) c.13285G>T (p.Glu4429Ter) c.13201G>T (p.Glu4401Ter) c.12523G>T (p.Glu4175Ter) c.10984G>T (p.Glu3662Ter) c.13405G>T (p.Glu4469Ter) c.13387G>T (p.Glu4463Ter) c.13363G>T (p.Glu4455Ter) c.13291G>T (p.Glu4431Ter) c.13255G>T (p.Glu4419Ter) c.10108G>T (p.Glu3370Ter) c.9712G>T (p.Glu3238Ter) | dbSNP |
7 | g.152148705C= | CA1752986183 | KMT2C | c.1410G= n.2354G= c.13393G= (p.Glu4465=) n.2522G= n.8414G= c.3795G= c.10732G= (p.Glu3578=) n.4852G= c.3867G= n.1988G= n.1938G= c.1639G= (p.Glu547=) c.8119G= (p.Glu2707=) c.13222G= (p.Glu4408=) c.9009G= c.3864G= c.3798G= n.7933G= c.8122G= (p.Glu2708=) c.12787G= (p.Glu4263=) c.3799G= n.2237G= c.5903G= c.3073G= (p.Glu1025=) n.11104G= c.*10742G= (n.*10742G=) c.13438G= (p.Glu4480=) c.13435G= (p.Glu4479=) c.13273G= (p.Glu4425=) c.13366G= (p.Glu4456=) c.13270G= (p.Glu4424=) c.13390G= (p.Glu4464=) c.13318G= (p.Glu4440=) c.13285G= (p.Glu4429=) c.13201G= (p.Glu4401=) c.12523G= (p.Glu4175=) c.10984G= (p.Glu3662=) c.13405G= (p.Glu4469=) c.13387G= (p.Glu4463=) c.13363G= (p.Glu4455=) c.13291G= (p.Glu4431=) c.13255G= (p.Glu4419=) c.10108G= (p.Glu3370=) c.9712G= (p.Glu3238=) | |
7 | g.152148705C>G | CA370091968 | KMT2C | c.1410G>C n.2354G>C c.13393G>C (p.Glu4465Gln) n.2522G>C n.8414G>C c.3795G>C c.10732G>C (p.Glu3578Gln) n.4852G>C c.3867G>C n.1988G>C n.1938G>C c.1639G>C (p.Glu547Gln) c.8119G>C (p.Glu2707Gln) c.13222G>C (p.Glu4408Gln) c.9009G>C c.3864G>C c.3798G>C n.7933G>C c.8122G>C (p.Glu2708Gln) c.12787G>C (p.Glu4263Gln) c.3799G>C n.2237G>C c.5903G>C c.3073G>C (p.Glu1025Gln) n.11104G>C c.*10742G>C (n.*10742G>C) c.13438G>C (p.Glu4480Gln) c.13435G>C (p.Glu4479Gln) c.13273G>C (p.Glu4425Gln) c.13366G>C (p.Glu4456Gln) c.13270G>C (p.Glu4424Gln) c.13390G>C (p.Glu4464Gln) c.13318G>C (p.Glu4440Gln) c.13285G>C (p.Glu4429Gln) c.13201G>C (p.Glu4401Gln) c.12523G>C (p.Glu4175Gln) c.10984G>C (p.Glu3662Gln) c.13405G>C (p.Glu4469Gln) c.13387G>C (p.Glu4463Gln) c.13363G>C (p.Glu4455Gln) c.13291G>C (p.Glu4431Gln) c.13255G>C (p.Glu4419Gln) c.10108G>C (p.Glu3370Gln) c.9712G>C (p.Glu3238Gln) | |
7 | g.152148705C>T | CA4578654 | KMT2C | c.1410G>A n.2354G>A c.13393G>A (p.Glu4465Lys) n.2522G>A n.8414G>A c.3795G>A c.10732G>A (p.Glu3578Lys) n.4852G>A c.3867G>A n.1988G>A n.1938G>A c.1639G>A (p.Glu547Lys) c.8119G>A (p.Glu2707Lys) c.13222G>A (p.Glu4408Lys) c.9009G>A c.3864G>A c.3798G>A n.7933G>A c.8122G>A (p.Glu2708Lys) c.12787G>A (p.Glu4263Lys) c.3799G>A n.2237G>A c.5903G>A c.3073G>A (p.Glu1025Lys) n.11104G>A c.*10742G>A (n.*10742G>A) c.13438G>A (p.Glu4480Lys) c.13435G>A (p.Glu4479Lys) c.13273G>A (p.Glu4425Lys) c.13366G>A (p.Glu4456Lys) c.13270G>A (p.Glu4424Lys) c.13390G>A (p.Glu4464Lys) c.13318G>A (p.Glu4440Lys) c.13285G>A (p.Glu4429Lys) c.13201G>A (p.Glu4401Lys) c.12523G>A (p.Glu4175Lys) c.10984G>A (p.Glu3662Lys) c.13405G>A (p.Glu4469Lys) c.13387G>A (p.Glu4463Lys) c.13363G>A (p.Glu4455Lys) c.13291G>A (p.Glu4431Lys) c.13255G>A (p.Glu4419Lys) c.10108G>A (p.Glu3370Lys) c.9712G>A (p.Glu3238Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148706T>A | CA370091973 | KMT2C | c.1409A>T n.2353A>T c.13392A>T (p.Glu4464Asp) n.2521A>T n.8413A>T c.3794A>T c.10731A>T (p.Glu3577Asp) n.4851A>T c.3866A>T n.1987A>T n.1937A>T c.1638A>T (p.Glu546Asp) c.8118A>T (p.Glu2706Asp) c.13221A>T (p.Glu4407Asp) c.9008A>T c.3863A>T c.3797A>T n.7932A>T c.8121A>T (p.Glu2707Asp) c.12786A>T (p.Glu4262Asp) c.3798A>T n.2236A>T c.5902A>T c.3072A>T (p.Glu1024Asp) n.11103A>T c.*10741A>T (n.*10741A>T) c.13437A>T (p.Glu4479Asp) c.13434A>T (p.Glu4478Asp) c.13272A>T (p.Glu4424Asp) c.13365A>T (p.Glu4455Asp) c.13269A>T (p.Glu4423Asp) c.13389A>T (p.Glu4463Asp) c.13317A>T (p.Glu4439Asp) c.13284A>T (p.Glu4428Asp) c.13200A>T (p.Glu4400Asp) c.12522A>T (p.Glu4174Asp) c.10983A>T (p.Glu3661Asp) c.13404A>T (p.Glu4468Asp) c.13386A>T (p.Glu4462Asp) c.13362A>T (p.Glu4454Asp) c.13290A>T (p.Glu4430Asp) c.13254A>T (p.Glu4418Asp) c.10107A>T (p.Glu3369Asp) c.9711A>T (p.Glu3237Asp) | |
7 | g.152148706T>C | CA458885022 | KMT2C | c.1409A>G n.2353A>G c.13392A>G (p.Glu4464=) n.2521A>G n.8413A>G c.3794A>G c.10731A>G (p.Glu3577=) n.4851A>G c.3866A>G n.1987A>G n.1937A>G c.1638A>G (p.Glu546=) c.8118A>G (p.Glu2706=) c.13221A>G (p.Glu4407=) c.9008A>G c.3863A>G c.3797A>G n.7932A>G c.8121A>G (p.Glu2707=) c.12786A>G (p.Glu4262=) c.3798A>G n.2236A>G c.5902A>G c.3072A>G (p.Glu1024=) n.11103A>G c.*10741A>G (n.*10741A>G) c.13437A>G (p.Glu4479=) c.13434A>G (p.Glu4478=) c.13272A>G (p.Glu4424=) c.13365A>G (p.Glu4455=) c.13269A>G (p.Glu4423=) c.13389A>G (p.Glu4463=) c.13317A>G (p.Glu4439=) c.13284A>G (p.Glu4428=) c.13200A>G (p.Glu4400=) c.12522A>G (p.Glu4174=) c.10983A>G (p.Glu3661=) c.13404A>G (p.Glu4468=) c.13386A>G (p.Glu4462=) c.13362A>G (p.Glu4454=) c.13290A>G (p.Glu4430=) c.13254A>G (p.Glu4418=) c.10107A>G (p.Glu3369=) c.9711A>G (p.Glu3237=) | |
7 | g.152148706T>G | CA370091975 | KMT2C | c.1409A>C n.2353A>C c.13392A>C (p.Glu4464Asp) n.2521A>C n.8413A>C c.3794A>C c.10731A>C (p.Glu3577Asp) n.4851A>C c.3866A>C n.1987A>C n.1937A>C c.1638A>C (p.Glu546Asp) c.8118A>C (p.Glu2706Asp) c.13221A>C (p.Glu4407Asp) c.9008A>C c.3863A>C c.3797A>C n.7932A>C c.8121A>C (p.Glu2707Asp) c.12786A>C (p.Glu4262Asp) c.3798A>C n.2236A>C c.5902A>C c.3072A>C (p.Glu1024Asp) n.11103A>C c.*10741A>C (n.*10741A>C) c.13437A>C (p.Glu4479Asp) c.13434A>C (p.Glu4478Asp) c.13272A>C (p.Glu4424Asp) c.13365A>C (p.Glu4455Asp) c.13269A>C (p.Glu4423Asp) c.13389A>C (p.Glu4463Asp) c.13317A>C (p.Glu4439Asp) c.13284A>C (p.Glu4428Asp) c.13200A>C (p.Glu4400Asp) c.12522A>C (p.Glu4174Asp) c.10983A>C (p.Glu3661Asp) c.13404A>C (p.Glu4468Asp) c.13386A>C (p.Glu4462Asp) c.13362A>C (p.Glu4454Asp) c.13290A>C (p.Glu4430Asp) c.13254A>C (p.Glu4418Asp) c.10107A>C (p.Glu3369Asp) c.9711A>C (p.Glu3237Asp) | |
7 | g.152148707T>A | CA370091979 | KMT2C | c.1408A>T n.2352A>T c.13391A>T (p.Glu4464Val) n.2520A>T n.8412A>T c.3793A>T c.10730A>T (p.Glu3577Val) n.4850A>T c.3865A>T n.1986A>T n.1936A>T c.1637A>T (p.Glu546Val) c.8117A>T (p.Glu2706Val) c.13220A>T (p.Glu4407Val) c.9007A>T c.3862A>T c.3796A>T n.7931A>T c.8120A>T (p.Glu2707Val) c.12785A>T (p.Glu4262Val) c.3797A>T n.2235A>T c.5901A>T c.3071A>T (p.Glu1024Val) n.11102A>T c.*10740A>T (n.*10740A>T) c.13436A>T (p.Glu4479Val) c.13433A>T (p.Glu4478Val) c.13271A>T (p.Glu4424Val) c.13364A>T (p.Glu4455Val) c.13268A>T (p.Glu4423Val) c.13388A>T (p.Glu4463Val) c.13316A>T (p.Glu4439Val) c.13283A>T (p.Glu4428Val) c.13199A>T (p.Glu4400Val) c.12521A>T (p.Glu4174Val) c.10982A>T (p.Glu3661Val) c.13403A>T (p.Glu4468Val) c.13385A>T (p.Glu4462Val) c.13361A>T (p.Glu4454Val) c.13289A>T (p.Glu4430Val) c.13253A>T (p.Glu4418Val) c.10106A>T (p.Glu3369Val) c.9710A>T (p.Glu3237Val) | |
7 | g.152148707T>C | CA370091981 | KMT2C | c.1408A>G n.2352A>G c.13391A>G (p.Glu4464Gly) n.2520A>G n.8412A>G c.3793A>G c.10730A>G (p.Glu3577Gly) n.4850A>G c.3865A>G n.1986A>G n.1936A>G c.1637A>G (p.Glu546Gly) c.8117A>G (p.Glu2706Gly) c.13220A>G (p.Glu4407Gly) c.9007A>G c.3862A>G c.3796A>G n.7931A>G c.8120A>G (p.Glu2707Gly) c.12785A>G (p.Glu4262Gly) c.3797A>G n.2235A>G c.5901A>G c.3071A>G (p.Glu1024Gly) n.11102A>G c.*10740A>G (n.*10740A>G) c.13436A>G (p.Glu4479Gly) c.13433A>G (p.Glu4478Gly) c.13271A>G (p.Glu4424Gly) c.13364A>G (p.Glu4455Gly) c.13268A>G (p.Glu4423Gly) c.13388A>G (p.Glu4463Gly) c.13316A>G (p.Glu4439Gly) c.13283A>G (p.Glu4428Gly) c.13199A>G (p.Glu4400Gly) c.12521A>G (p.Glu4174Gly) c.10982A>G (p.Glu3661Gly) c.13403A>G (p.Glu4468Gly) c.13385A>G (p.Glu4462Gly) c.13361A>G (p.Glu4454Gly) c.13289A>G (p.Glu4430Gly) c.13253A>G (p.Glu4418Gly) c.10106A>G (p.Glu3369Gly) c.9710A>G (p.Glu3237Gly) | |
7 | g.152148707T>G | CA370091984 | KMT2C | c.1408A>C n.2352A>C c.13391A>C (p.Glu4464Ala) n.2520A>C n.8412A>C c.3793A>C c.10730A>C (p.Glu3577Ala) n.4850A>C c.3865A>C n.1986A>C n.1936A>C c.1637A>C (p.Glu546Ala) c.8117A>C (p.Glu2706Ala) c.13220A>C (p.Glu4407Ala) c.9007A>C c.3862A>C c.3796A>C n.7931A>C c.8120A>C (p.Glu2707Ala) c.12785A>C (p.Glu4262Ala) c.3797A>C n.2235A>C c.5901A>C c.3071A>C (p.Glu1024Ala) n.11102A>C c.*10740A>C (n.*10740A>C) c.13436A>C (p.Glu4479Ala) c.13433A>C (p.Glu4478Ala) c.13271A>C (p.Glu4424Ala) c.13364A>C (p.Glu4455Ala) c.13268A>C (p.Glu4423Ala) c.13388A>C (p.Glu4463Ala) c.13316A>C (p.Glu4439Ala) c.13283A>C (p.Glu4428Ala) c.13199A>C (p.Glu4400Ala) c.12521A>C (p.Glu4174Ala) c.10982A>C (p.Glu3661Ala) c.13403A>C (p.Glu4468Ala) c.13385A>C (p.Glu4462Ala) c.13361A>C (p.Glu4454Ala) c.13289A>C (p.Glu4430Ala) c.13253A>C (p.Glu4418Ala) c.10106A>C (p.Glu3369Ala) c.9710A>C (p.Glu3237Ala) | |
7 | g.152148708C>A | CA370091987 | KMT2C | c.1407G>T n.2351G>T c.13390G>T (p.Glu4464Ter) n.2519G>T n.8411G>T c.3792G>T c.10729G>T (p.Glu3577Ter) n.4849G>T c.3864G>T n.1985G>T n.1935G>T c.1636G>T (p.Glu546Ter) c.8116G>T (p.Glu2706Ter) c.13219G>T (p.Glu4407Ter) c.9006G>T c.3861G>T c.3795G>T n.7930G>T c.8119G>T (p.Glu2707Ter) c.12784G>T (p.Glu4262Ter) c.3796G>T n.2234G>T c.5900G>T c.3070G>T (p.Glu1024Ter) n.11101G>T c.*10739G>T (n.*10739G>T) c.13435G>T (p.Glu4479Ter) c.13432G>T (p.Glu4478Ter) c.13270G>T (p.Glu4424Ter) c.13363G>T (p.Glu4455Ter) c.13267G>T (p.Glu4423Ter) c.13387G>T (p.Glu4463Ter) c.13315G>T (p.Glu4439Ter) c.13282G>T (p.Glu4428Ter) c.13198G>T (p.Glu4400Ter) c.12520G>T (p.Glu4174Ter) c.10981G>T (p.Glu3661Ter) c.13402G>T (p.Glu4468Ter) c.13384G>T (p.Glu4462Ter) c.13360G>T (p.Glu4454Ter) c.13288G>T (p.Glu4430Ter) c.13252G>T (p.Glu4418Ter) c.10105G>T (p.Glu3369Ter) c.9709G>T (p.Glu3237Ter) | |
7 | g.152148708C>G | CA370091986 | KMT2C | c.1407G>C n.2351G>C c.13390G>C (p.Glu4464Gln) n.2519G>C n.8411G>C c.3792G>C c.10729G>C (p.Glu3577Gln) n.4849G>C c.3864G>C n.1985G>C n.1935G>C c.1636G>C (p.Glu546Gln) c.8116G>C (p.Glu2706Gln) c.13219G>C (p.Glu4407Gln) c.9006G>C c.3861G>C c.3795G>C n.7930G>C c.8119G>C (p.Glu2707Gln) c.12784G>C (p.Glu4262Gln) c.3796G>C n.2234G>C c.5900G>C c.3070G>C (p.Glu1024Gln) n.11101G>C c.*10739G>C (n.*10739G>C) c.13435G>C (p.Glu4479Gln) c.13432G>C (p.Glu4478Gln) c.13270G>C (p.Glu4424Gln) c.13363G>C (p.Glu4455Gln) c.13267G>C (p.Glu4423Gln) c.13387G>C (p.Glu4463Gln) c.13315G>C (p.Glu4439Gln) c.13282G>C (p.Glu4428Gln) c.13198G>C (p.Glu4400Gln) c.12520G>C (p.Glu4174Gln) c.10981G>C (p.Glu3661Gln) c.13402G>C (p.Glu4468Gln) c.13384G>C (p.Glu4462Gln) c.13360G>C (p.Glu4454Gln) c.13288G>C (p.Glu4430Gln) c.13252G>C (p.Glu4418Gln) c.10105G>C (p.Glu3369Gln) c.9709G>C (p.Glu3237Gln) | |
7 | g.152148708C>T | CA370091985 | KMT2C | c.1407G>A n.2351G>A c.13390G>A (p.Glu4464Lys) n.2519G>A n.8411G>A c.3792G>A c.10729G>A (p.Glu3577Lys) n.4849G>A c.3864G>A n.1985G>A n.1935G>A c.1636G>A (p.Glu546Lys) c.8116G>A (p.Glu2706Lys) c.13219G>A (p.Glu4407Lys) c.9006G>A c.3861G>A c.3795G>A n.7930G>A c.8119G>A (p.Glu2707Lys) c.12784G>A (p.Glu4262Lys) c.3796G>A n.2234G>A c.5900G>A c.3070G>A (p.Glu1024Lys) n.11101G>A c.*10739G>A (n.*10739G>A) c.13435G>A (p.Glu4479Lys) c.13432G>A (p.Glu4478Lys) c.13270G>A (p.Glu4424Lys) c.13363G>A (p.Glu4455Lys) c.13267G>A (p.Glu4423Lys) c.13387G>A (p.Glu4463Lys) c.13315G>A (p.Glu4439Lys) c.13282G>A (p.Glu4428Lys) c.13198G>A (p.Glu4400Lys) c.12520G>A (p.Glu4174Lys) c.10981G>A (p.Glu3661Lys) c.13402G>A (p.Glu4468Lys) c.13384G>A (p.Glu4462Lys) c.13360G>A (p.Glu4454Lys) c.13288G>A (p.Glu4430Lys) c.13252G>A (p.Glu4418Lys) c.10105G>A (p.Glu3369Lys) c.9709G>A (p.Glu3237Lys) | |
7 | g.152148709A= | CA1752986186 | KMT2C | c.1406T= n.2350T= c.13389T= (p.His4463=) n.2518T= n.8410T= c.3791T= c.10728T= (p.His3576=) n.4848T= c.3863T= n.1984T= n.1934T= c.1635T= (p.His545=) c.8115T= (p.His2705=) c.13218T= (p.His4406=) c.9005T= c.3860T= c.3794T= n.7929T= c.8118T= (p.His2706=) c.12783T= (p.His4261=) c.3795T= n.2233T= c.5899T= c.3069T= (p.His1023=) n.11100T= c.*10738T= (n.*10738T=) c.13434T= (p.His4478=) c.13431T= (p.His4477=) c.13269T= (p.His4423=) c.13362T= (p.His4454=) c.13266T= (p.His4422=) c.13386T= (p.His4462=) c.13314T= (p.His4438=) c.13281T= (p.His4427=) c.13197T= (p.His4399=) c.12519T= (p.His4173=) c.10980T= (p.His3660=) c.13401T= (p.His4467=) c.13383T= (p.His4461=) c.13359T= (p.His4453=) c.13287T= (p.His4429=) c.13251T= (p.His4417=) c.10104T= (p.His3368=) c.9708T= (p.His3236=) | |
7 | g.152148709A>C | CA370091988 | KMT2C | c.1406T>G n.2350T>G c.13389T>G (p.His4463Gln) n.2518T>G n.8410T>G c.3791T>G c.10728T>G (p.His3576Gln) n.4848T>G c.3863T>G n.1984T>G n.1934T>G c.1635T>G (p.His545Gln) c.8115T>G (p.His2705Gln) c.13218T>G (p.His4406Gln) c.9005T>G c.3860T>G c.3794T>G n.7929T>G c.8118T>G (p.His2706Gln) c.12783T>G (p.His4261Gln) c.3795T>G n.2233T>G c.5899T>G c.3069T>G (p.His1023Gln) n.11100T>G c.*10738T>G (n.*10738T>G) c.13434T>G (p.His4478Gln) c.13431T>G (p.His4477Gln) c.13269T>G (p.His4423Gln) c.13362T>G (p.His4454Gln) c.13266T>G (p.His4422Gln) c.13386T>G (p.His4462Gln) c.13314T>G (p.His4438Gln) c.13281T>G (p.His4427Gln) c.13197T>G (p.His4399Gln) c.12519T>G (p.His4173Gln) c.10980T>G (p.His3660Gln) c.13401T>G (p.His4467Gln) c.13383T>G (p.His4461Gln) c.13359T>G (p.His4453Gln) c.13287T>G (p.His4429Gln) c.13251T>G (p.His4417Gln) c.10104T>G (p.His3368Gln) c.9708T>G (p.His3236Gln) | |
7 | g.152148709A>G | CA4578655 | KMT2C | c.1406T>C n.2350T>C c.13389T>C (p.His4463=) n.2518T>C n.8410T>C c.3791T>C c.10728T>C (p.His3576=) n.4848T>C c.3863T>C n.1984T>C n.1934T>C c.1635T>C (p.His545=) c.8115T>C (p.His2705=) c.13218T>C (p.His4406=) c.9005T>C c.3860T>C c.3794T>C n.7929T>C c.8118T>C (p.His2706=) c.12783T>C (p.His4261=) c.3795T>C n.2233T>C c.5899T>C c.3069T>C (p.His1023=) n.11100T>C c.*10738T>C (n.*10738T>C) c.13434T>C (p.His4478=) c.13431T>C (p.His4477=) c.13269T>C (p.His4423=) c.13362T>C (p.His4454=) c.13266T>C (p.His4422=) c.13386T>C (p.His4462=) c.13314T>C (p.His4438=) c.13281T>C (p.His4427=) c.13197T>C (p.His4399=) c.12519T>C (p.His4173=) c.10980T>C (p.His3660=) c.13401T>C (p.His4467=) c.13383T>C (p.His4461=) c.13359T>C (p.His4453=) c.13287T>C (p.His4429=) c.13251T>C (p.His4417=) c.10104T>C (p.His3368=) c.9708T>C (p.His3236=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148709A>T | CA370091990 | KMT2C | c.1406T>A n.2350T>A c.13389T>A (p.His4463Gln) n.2518T>A n.8410T>A c.3791T>A c.10728T>A (p.His3576Gln) n.4848T>A c.3863T>A n.1984T>A n.1934T>A c.1635T>A (p.His545Gln) c.8115T>A (p.His2705Gln) c.13218T>A (p.His4406Gln) c.9005T>A c.3860T>A c.3794T>A n.7929T>A c.8118T>A (p.His2706Gln) c.12783T>A (p.His4261Gln) c.3795T>A n.2233T>A c.5899T>A c.3069T>A (p.His1023Gln) n.11100T>A c.*10738T>A (n.*10738T>A) c.13434T>A (p.His4478Gln) c.13431T>A (p.His4477Gln) c.13269T>A (p.His4423Gln) c.13362T>A (p.His4454Gln) c.13266T>A (p.His4422Gln) c.13386T>A (p.His4462Gln) c.13314T>A (p.His4438Gln) c.13281T>A (p.His4427Gln) c.13197T>A (p.His4399Gln) c.12519T>A (p.His4173Gln) c.10980T>A (p.His3660Gln) c.13401T>A (p.His4467Gln) c.13383T>A (p.His4461Gln) c.13359T>A (p.His4453Gln) c.13287T>A (p.His4429Gln) c.13251T>A (p.His4417Gln) c.10104T>A (p.His3368Gln) c.9708T>A (p.His3236Gln) | |
7 | g.152148710T>A | CA370091992 | KMT2C | c.1405A>T n.2349A>T c.13388A>T (p.His4463Leu) n.2517A>T n.8409A>T c.3790A>T c.10727A>T (p.His3576Leu) n.4847A>T c.3862A>T n.1983A>T n.1933A>T c.1634A>T (p.His545Leu) c.8114A>T (p.His2705Leu) c.13217A>T (p.His4406Leu) c.9004A>T c.3859A>T c.3793A>T n.7928A>T c.8117A>T (p.His2706Leu) c.12782A>T (p.His4261Leu) c.3794A>T n.2232A>T c.5898A>T c.3068A>T (p.His1023Leu) n.11099A>T c.*10737A>T (n.*10737A>T) c.13433A>T (p.His4478Leu) c.13430A>T (p.His4477Leu) c.13268A>T (p.His4423Leu) c.13361A>T (p.His4454Leu) c.13265A>T (p.His4422Leu) c.13385A>T (p.His4462Leu) c.13313A>T (p.His4438Leu) c.13280A>T (p.His4427Leu) c.13196A>T (p.His4399Leu) c.12518A>T (p.His4173Leu) c.10979A>T (p.His3660Leu) c.13400A>T (p.His4467Leu) c.13382A>T (p.His4461Leu) c.13358A>T (p.His4453Leu) c.13286A>T (p.His4429Leu) c.13250A>T (p.His4417Leu) c.10103A>T (p.His3368Leu) c.9707A>T (p.His3236Leu) | |
7 | g.152148710T>C | CA370091997 | KMT2C | c.1405A>G n.2349A>G c.13388A>G (p.His4463Arg) n.2517A>G n.8409A>G c.3790A>G c.10727A>G (p.His3576Arg) n.4847A>G c.3862A>G n.1983A>G n.1933A>G c.1634A>G (p.His545Arg) c.8114A>G (p.His2705Arg) c.13217A>G (p.His4406Arg) c.9004A>G c.3859A>G c.3793A>G n.7928A>G c.8117A>G (p.His2706Arg) c.12782A>G (p.His4261Arg) c.3794A>G n.2232A>G c.5898A>G c.3068A>G (p.His1023Arg) n.11099A>G c.*10737A>G (n.*10737A>G) c.13433A>G (p.His4478Arg) c.13430A>G (p.His4477Arg) c.13268A>G (p.His4423Arg) c.13361A>G (p.His4454Arg) c.13265A>G (p.His4422Arg) c.13385A>G (p.His4462Arg) c.13313A>G (p.His4438Arg) c.13280A>G (p.His4427Arg) c.13196A>G (p.His4399Arg) c.12518A>G (p.His4173Arg) c.10979A>G (p.His3660Arg) c.13400A>G (p.His4467Arg) c.13382A>G (p.His4461Arg) c.13358A>G (p.His4453Arg) c.13286A>G (p.His4429Arg) c.13250A>G (p.His4417Arg) c.10103A>G (p.His3368Arg) c.9707A>G (p.His3236Arg) | |
7 | g.152148710T>G | CA370091993 | KMT2C | c.1405A>C n.2349A>C c.13388A>C (p.His4463Pro) n.2517A>C n.8409A>C c.3790A>C c.10727A>C (p.His3576Pro) n.4847A>C c.3862A>C n.1983A>C n.1933A>C c.1634A>C (p.His545Pro) c.8114A>C (p.His2705Pro) c.13217A>C (p.His4406Pro) c.9004A>C c.3859A>C c.3793A>C n.7928A>C c.8117A>C (p.His2706Pro) c.12782A>C (p.His4261Pro) c.3794A>C n.2232A>C c.5898A>C c.3068A>C (p.His1023Pro) n.11099A>C c.*10737A>C (n.*10737A>C) c.13433A>C (p.His4478Pro) c.13430A>C (p.His4477Pro) c.13268A>C (p.His4423Pro) c.13361A>C (p.His4454Pro) c.13265A>C (p.His4422Pro) c.13385A>C (p.His4462Pro) c.13313A>C (p.His4438Pro) c.13280A>C (p.His4427Pro) c.13196A>C (p.His4399Pro) c.12518A>C (p.His4173Pro) c.10979A>C (p.His3660Pro) c.13400A>C (p.His4467Pro) c.13382A>C (p.His4461Pro) c.13358A>C (p.His4453Pro) c.13286A>C (p.His4429Pro) c.13250A>C (p.His4417Pro) c.10103A>C (p.His3368Pro) c.9707A>C (p.His3236Pro) | |
7 | g.152148711G>A | CA370091999 | KMT2C | c.1404C>T n.2348C>T c.13387C>T (p.His4463Tyr) n.2516C>T n.8408C>T c.3789C>T c.10726C>T (p.His3576Tyr) n.4846C>T c.3861C>T n.1982C>T n.1932C>T c.1633C>T (p.His545Tyr) c.8113C>T (p.His2705Tyr) c.13216C>T (p.His4406Tyr) c.9003C>T c.3858C>T c.3792C>T n.7927C>T c.8116C>T (p.His2706Tyr) c.12781C>T (p.His4261Tyr) c.3793C>T n.2231C>T c.5897C>T c.3067C>T (p.His1023Tyr) n.11098C>T c.*10736C>T (n.*10736C>T) c.13432C>T (p.His4478Tyr) c.13429C>T (p.His4477Tyr) c.13267C>T (p.His4423Tyr) c.13360C>T (p.His4454Tyr) c.13264C>T (p.His4422Tyr) c.13384C>T (p.His4462Tyr) c.13312C>T (p.His4438Tyr) c.13279C>T (p.His4427Tyr) c.13195C>T (p.His4399Tyr) c.12517C>T (p.His4173Tyr) c.10978C>T (p.His3660Tyr) c.13399C>T (p.His4467Tyr) c.13381C>T (p.His4461Tyr) c.13357C>T (p.His4453Tyr) c.13285C>T (p.His4429Tyr) c.13249C>T (p.His4417Tyr) c.10102C>T (p.His3368Tyr) c.9706C>T (p.His3236Tyr) | |
7 | g.152148711G>C | CA370092002 | KMT2C | c.1404C>G n.2348C>G c.13387C>G (p.His4463Asp) n.2516C>G n.8408C>G c.3789C>G c.10726C>G (p.His3576Asp) n.4846C>G c.3861C>G n.1982C>G n.1932C>G c.1633C>G (p.His545Asp) c.8113C>G (p.His2705Asp) c.13216C>G (p.His4406Asp) c.9003C>G c.3858C>G c.3792C>G n.7927C>G c.8116C>G (p.His2706Asp) c.12781C>G (p.His4261Asp) c.3793C>G n.2231C>G c.5897C>G c.3067C>G (p.His1023Asp) n.11098C>G c.*10736C>G (n.*10736C>G) c.13432C>G (p.His4478Asp) c.13429C>G (p.His4477Asp) c.13267C>G (p.His4423Asp) c.13360C>G (p.His4454Asp) c.13264C>G (p.His4422Asp) c.13384C>G (p.His4462Asp) c.13312C>G (p.His4438Asp) c.13279C>G (p.His4427Asp) c.13195C>G (p.His4399Asp) c.12517C>G (p.His4173Asp) c.10978C>G (p.His3660Asp) c.13399C>G (p.His4467Asp) c.13381C>G (p.His4461Asp) c.13357C>G (p.His4453Asp) c.13285C>G (p.His4429Asp) c.13249C>G (p.His4417Asp) c.10102C>G (p.His3368Asp) c.9706C>G (p.His3236Asp) | |
7 | g.152148711G>T | CA370092004 | KMT2C | c.1404C>A n.2348C>A c.13387C>A (p.His4463Asn) n.2516C>A n.8408C>A c.3789C>A c.10726C>A (p.His3576Asn) n.4846C>A c.3861C>A n.1982C>A n.1932C>A c.1633C>A (p.His545Asn) c.8113C>A (p.His2705Asn) c.13216C>A (p.His4406Asn) c.9003C>A c.3858C>A c.3792C>A n.7927C>A c.8116C>A (p.His2706Asn) c.12781C>A (p.His4261Asn) c.3793C>A n.2231C>A c.5897C>A c.3067C>A (p.His1023Asn) n.11098C>A c.*10736C>A (n.*10736C>A) c.13432C>A (p.His4478Asn) c.13429C>A (p.His4477Asn) c.13267C>A (p.His4423Asn) c.13360C>A (p.His4454Asn) c.13264C>A (p.His4422Asn) c.13384C>A (p.His4462Asn) c.13312C>A (p.His4438Asn) c.13279C>A (p.His4427Asn) c.13195C>A (p.His4399Asn) c.12517C>A (p.His4173Asn) c.10978C>A (p.His3660Asn) c.13399C>A (p.His4467Asn) c.13381C>A (p.His4461Asn) c.13357C>A (p.His4453Asn) c.13285C>A (p.His4429Asn) c.13249C>A (p.His4417Asn) c.10102C>A (p.His3368Asn) c.9706C>A (p.His3236Asn) | dbSNP |
7 | g.152148712A>C | CA370092007 | KMT2C | c.1403T>G n.2347T>G c.13386T>G (p.Cys4462Trp) n.2515T>G n.8407T>G c.3788T>G c.10725T>G (p.Cys3575Trp) n.4845T>G c.3860T>G n.1981T>G n.1931T>G c.1632T>G (p.Cys544Trp) c.8112T>G (p.Cys2704Trp) c.13215T>G (p.Cys4405Trp) c.9002T>G c.3857T>G c.3791T>G n.7926T>G c.8115T>G (p.Cys2705Trp) c.12780T>G (p.Cys4260Trp) c.3792T>G n.2230T>G c.5896T>G c.3066T>G (p.Cys1022Trp) n.11097T>G c.*10735T>G (n.*10735T>G) c.13431T>G (p.Cys4477Trp) c.13428T>G (p.Cys4476Trp) c.13266T>G (p.Cys4422Trp) c.13359T>G (p.Cys4453Trp) c.13263T>G (p.Cys4421Trp) c.13383T>G (p.Cys4461Trp) c.13311T>G (p.Cys4437Trp) c.13278T>G (p.Cys4426Trp) c.13194T>G (p.Cys4398Trp) c.12516T>G (p.Cys4172Trp) c.10977T>G (p.Cys3659Trp) c.13398T>G (p.Cys4466Trp) c.13380T>G (p.Cys4460Trp) c.13356T>G (p.Cys4452Trp) c.13284T>G (p.Cys4428Trp) c.13248T>G (p.Cys4416Trp) c.10101T>G (p.Cys3367Trp) c.9705T>G (p.Cys3235Trp) | |
7 | g.152148712A>G | CA458885041 | KMT2C | c.1403T>C n.2347T>C c.13386T>C (p.Cys4462=) n.2515T>C n.8407T>C c.3788T>C c.10725T>C (p.Cys3575=) n.4845T>C c.3860T>C n.1981T>C n.1931T>C c.1632T>C (p.Cys544=) c.8112T>C (p.Cys2704=) c.13215T>C (p.Cys4405=) c.9002T>C c.3857T>C c.3791T>C n.7926T>C c.8115T>C (p.Cys2705=) c.12780T>C (p.Cys4260=) c.3792T>C n.2230T>C c.5896T>C c.3066T>C (p.Cys1022=) n.11097T>C c.*10735T>C (n.*10735T>C) c.13431T>C (p.Cys4477=) c.13428T>C (p.Cys4476=) c.13266T>C (p.Cys4422=) c.13359T>C (p.Cys4453=) c.13263T>C (p.Cys4421=) c.13383T>C (p.Cys4461=) c.13311T>C (p.Cys4437=) c.13278T>C (p.Cys4426=) c.13194T>C (p.Cys4398=) c.12516T>C (p.Cys4172=) c.10977T>C (p.Cys3659=) c.13398T>C (p.Cys4466=) c.13380T>C (p.Cys4460=) c.13356T>C (p.Cys4452=) c.13284T>C (p.Cys4428=) c.13248T>C (p.Cys4416=) c.10101T>C (p.Cys3367=) c.9705T>C (p.Cys3235=) | |
7 | g.152148712A>T | CA370092009 | KMT2C | c.1403T>A n.2347T>A c.13386T>A (p.Cys4462Ter) n.2515T>A n.8407T>A c.3788T>A c.10725T>A (p.Cys3575Ter) n.4845T>A c.3860T>A n.1981T>A n.1931T>A c.1632T>A (p.Cys544Ter) c.8112T>A (p.Cys2704Ter) c.13215T>A (p.Cys4405Ter) c.9002T>A c.3857T>A c.3791T>A n.7926T>A c.8115T>A (p.Cys2705Ter) c.12780T>A (p.Cys4260Ter) c.3792T>A n.2230T>A c.5896T>A c.3066T>A (p.Cys1022Ter) n.11097T>A c.*10735T>A (n.*10735T>A) c.13431T>A (p.Cys4477Ter) c.13428T>A (p.Cys4476Ter) c.13266T>A (p.Cys4422Ter) c.13359T>A (p.Cys4453Ter) c.13263T>A (p.Cys4421Ter) c.13383T>A (p.Cys4461Ter) c.13311T>A (p.Cys4437Ter) c.13278T>A (p.Cys4426Ter) c.13194T>A (p.Cys4398Ter) c.12516T>A (p.Cys4172Ter) c.10977T>A (p.Cys3659Ter) c.13398T>A (p.Cys4466Ter) c.13380T>A (p.Cys4460Ter) c.13356T>A (p.Cys4452Ter) c.13284T>A (p.Cys4428Ter) c.13248T>A (p.Cys4416Ter) c.10101T>A (p.Cys3367Ter) c.9705T>A (p.Cys3235Ter) | dbSNP |
7 | g.152148713C>A | CA370092011 | KMT2C | c.1402G>T n.2346G>T c.13385G>T (p.Cys4462Phe) n.2514G>T n.8406G>T c.3787G>T c.10724G>T (p.Cys3575Phe) n.4844G>T c.3859G>T n.1980G>T n.1930G>T c.1631G>T (p.Cys544Phe) c.8111G>T (p.Cys2704Phe) c.13214G>T (p.Cys4405Phe) c.9001G>T c.3856G>T c.3790G>T n.7925G>T c.8114G>T (p.Cys2705Phe) c.12779G>T (p.Cys4260Phe) c.3791G>T n.2229G>T c.5895G>T c.3065G>T (p.Cys1022Phe) n.11096G>T c.*10734G>T (n.*10734G>T) c.13430G>T (p.Cys4477Phe) c.13427G>T (p.Cys4476Phe) c.13265G>T (p.Cys4422Phe) c.13358G>T (p.Cys4453Phe) c.13262G>T (p.Cys4421Phe) c.13382G>T (p.Cys4461Phe) c.13310G>T (p.Cys4437Phe) c.13277G>T (p.Cys4426Phe) c.13193G>T (p.Cys4398Phe) c.12515G>T (p.Cys4172Phe) c.10976G>T (p.Cys3659Phe) c.13397G>T (p.Cys4466Phe) c.13379G>T (p.Cys4460Phe) c.13355G>T (p.Cys4452Phe) c.13283G>T (p.Cys4428Phe) c.13247G>T (p.Cys4416Phe) c.10100G>T (p.Cys3367Phe) c.9704G>T (p.Cys3235Phe) | dbSNP |
7 | g.152148713C>G | CA370092013 | KMT2C | c.1402G>C n.2346G>C c.13385G>C (p.Cys4462Ser) n.2514G>C n.8406G>C c.3787G>C c.10724G>C (p.Cys3575Ser) n.4844G>C c.3859G>C n.1980G>C n.1930G>C c.1631G>C (p.Cys544Ser) c.8111G>C (p.Cys2704Ser) c.13214G>C (p.Cys4405Ser) c.9001G>C c.3856G>C c.3790G>C n.7925G>C c.8114G>C (p.Cys2705Ser) c.12779G>C (p.Cys4260Ser) c.3791G>C n.2229G>C c.5895G>C c.3065G>C (p.Cys1022Ser) n.11096G>C c.*10734G>C (n.*10734G>C) c.13430G>C (p.Cys4477Ser) c.13427G>C (p.Cys4476Ser) c.13265G>C (p.Cys4422Ser) c.13358G>C (p.Cys4453Ser) c.13262G>C (p.Cys4421Ser) c.13382G>C (p.Cys4461Ser) c.13310G>C (p.Cys4437Ser) c.13277G>C (p.Cys4426Ser) c.13193G>C (p.Cys4398Ser) c.12515G>C (p.Cys4172Ser) c.10976G>C (p.Cys3659Ser) c.13397G>C (p.Cys4466Ser) c.13379G>C (p.Cys4460Ser) c.13355G>C (p.Cys4452Ser) c.13283G>C (p.Cys4428Ser) c.13247G>C (p.Cys4416Ser) c.10100G>C (p.Cys3367Ser) c.9704G>C (p.Cys3235Ser) | |
7 | g.152148713C>T | CA370092016 | KMT2C | c.1402G>A n.2346G>A c.13385G>A (p.Cys4462Tyr) n.2514G>A n.8406G>A c.3787G>A c.10724G>A (p.Cys3575Tyr) n.4844G>A c.3859G>A n.1980G>A n.1930G>A c.1631G>A (p.Cys544Tyr) c.8111G>A (p.Cys2704Tyr) c.13214G>A (p.Cys4405Tyr) c.9001G>A c.3856G>A c.3790G>A n.7925G>A c.8114G>A (p.Cys2705Tyr) c.12779G>A (p.Cys4260Tyr) c.3791G>A n.2229G>A c.5895G>A c.3065G>A (p.Cys1022Tyr) n.11096G>A c.*10734G>A (n.*10734G>A) c.13430G>A (p.Cys4477Tyr) c.13427G>A (p.Cys4476Tyr) c.13265G>A (p.Cys4422Tyr) c.13358G>A (p.Cys4453Tyr) c.13262G>A (p.Cys4421Tyr) c.13382G>A (p.Cys4461Tyr) c.13310G>A (p.Cys4437Tyr) c.13277G>A (p.Cys4426Tyr) c.13193G>A (p.Cys4398Tyr) c.12515G>A (p.Cys4172Tyr) c.10976G>A (p.Cys3659Tyr) c.13397G>A (p.Cys4466Tyr) c.13379G>A (p.Cys4460Tyr) c.13355G>A (p.Cys4452Tyr) c.13283G>A (p.Cys4428Tyr) c.13247G>A (p.Cys4416Tyr) c.10100G>A (p.Cys3367Tyr) c.9704G>A (p.Cys3235Tyr) | |
7 | g.152148714A>C | CA370092020 | KMT2C | c.1401T>G n.2345T>G c.13384T>G (p.Cys4462Gly) n.2513T>G n.8405T>G c.3786T>G c.10723T>G (p.Cys3575Gly) n.4843T>G c.3858T>G n.1979T>G n.1929T>G c.1630T>G (p.Cys544Gly) c.8110T>G (p.Cys2704Gly) c.13213T>G (p.Cys4405Gly) c.9000T>G c.3855T>G c.3789T>G n.7924T>G c.8113T>G (p.Cys2705Gly) c.12778T>G (p.Cys4260Gly) c.3790T>G n.2228T>G c.5894T>G c.3064T>G (p.Cys1022Gly) n.11095T>G c.*10733T>G (n.*10733T>G) c.13429T>G (p.Cys4477Gly) c.13426T>G (p.Cys4476Gly) c.13264T>G (p.Cys4422Gly) c.13357T>G (p.Cys4453Gly) c.13261T>G (p.Cys4421Gly) c.13381T>G (p.Cys4461Gly) c.13309T>G (p.Cys4437Gly) c.13276T>G (p.Cys4426Gly) c.13192T>G (p.Cys4398Gly) c.12514T>G (p.Cys4172Gly) c.10975T>G (p.Cys3659Gly) c.13396T>G (p.Cys4466Gly) c.13378T>G (p.Cys4460Gly) c.13354T>G (p.Cys4452Gly) c.13282T>G (p.Cys4428Gly) c.13246T>G (p.Cys4416Gly) c.10099T>G (p.Cys3367Gly) c.9703T>G (p.Cys3235Gly) | |
7 | g.152148714A>G | CA370092022 | KMT2C | c.1401T>C n.2345T>C c.13384T>C (p.Cys4462Arg) n.2513T>C n.8405T>C c.3786T>C c.10723T>C (p.Cys3575Arg) n.4843T>C c.3858T>C n.1979T>C n.1929T>C c.1630T>C (p.Cys544Arg) c.8110T>C (p.Cys2704Arg) c.13213T>C (p.Cys4405Arg) c.9000T>C c.3855T>C c.3789T>C n.7924T>C c.8113T>C (p.Cys2705Arg) c.12778T>C (p.Cys4260Arg) c.3790T>C n.2228T>C c.5894T>C c.3064T>C (p.Cys1022Arg) n.11095T>C c.*10733T>C (n.*10733T>C) c.13429T>C (p.Cys4477Arg) c.13426T>C (p.Cys4476Arg) c.13264T>C (p.Cys4422Arg) c.13357T>C (p.Cys4453Arg) c.13261T>C (p.Cys4421Arg) c.13381T>C (p.Cys4461Arg) c.13309T>C (p.Cys4437Arg) c.13276T>C (p.Cys4426Arg) c.13192T>C (p.Cys4398Arg) c.12514T>C (p.Cys4172Arg) c.10975T>C (p.Cys3659Arg) c.13396T>C (p.Cys4466Arg) c.13378T>C (p.Cys4460Arg) c.13354T>C (p.Cys4452Arg) c.13282T>C (p.Cys4428Arg) c.13246T>C (p.Cys4416Arg) c.10099T>C (p.Cys3367Arg) c.9703T>C (p.Cys3235Arg) | |
7 | g.152148714A>T | CA370092023 | KMT2C | c.1401T>A n.2345T>A c.13384T>A (p.Cys4462Ser) n.2513T>A n.8405T>A c.3786T>A c.10723T>A (p.Cys3575Ser) n.4843T>A c.3858T>A n.1979T>A n.1929T>A c.1630T>A (p.Cys544Ser) c.8110T>A (p.Cys2704Ser) c.13213T>A (p.Cys4405Ser) c.9000T>A c.3855T>A c.3789T>A n.7924T>A c.8113T>A (p.Cys2705Ser) c.12778T>A (p.Cys4260Ser) c.3790T>A n.2228T>A c.5894T>A c.3064T>A (p.Cys1022Ser) n.11095T>A c.*10733T>A (n.*10733T>A) c.13429T>A (p.Cys4477Ser) c.13426T>A (p.Cys4476Ser) c.13264T>A (p.Cys4422Ser) c.13357T>A (p.Cys4453Ser) c.13261T>A (p.Cys4421Ser) c.13381T>A (p.Cys4461Ser) c.13309T>A (p.Cys4437Ser) c.13276T>A (p.Cys4426Ser) c.13192T>A (p.Cys4398Ser) c.12514T>A (p.Cys4172Ser) c.10975T>A (p.Cys3659Ser) c.13396T>A (p.Cys4466Ser) c.13378T>A (p.Cys4460Ser) c.13354T>A (p.Cys4452Ser) c.13282T>A (p.Cys4428Ser) c.13246T>A (p.Cys4416Ser) c.10099T>A (p.Cys3367Ser) c.9703T>A (p.Cys3235Ser) | |
7 | g.152148715A>C | CA370092026 | KMT2C | c.1400T>G n.2344T>G c.13383T>G (p.Phe4461Leu) n.2512T>G n.8404T>G c.3785T>G c.10722T>G (p.Phe3574Leu) n.4842T>G c.3857T>G n.1978T>G n.1928T>G c.1629T>G (p.Phe543Leu) c.8109T>G (p.Phe2703Leu) c.13212T>G (p.Phe4404Leu) c.8999T>G c.3854T>G c.3788T>G n.7923T>G c.8112T>G (p.Phe2704Leu) c.12777T>G (p.Phe4259Leu) c.3789T>G n.2227T>G c.5893T>G c.3063T>G (p.Phe1021Leu) n.11094T>G c.*10732T>G (n.*10732T>G) c.13428T>G (p.Phe4476Leu) c.13425T>G (p.Phe4475Leu) c.13263T>G (p.Phe4421Leu) c.13356T>G (p.Phe4452Leu) c.13260T>G (p.Phe4420Leu) c.13380T>G (p.Phe4460Leu) c.13308T>G (p.Phe4436Leu) c.13275T>G (p.Phe4425Leu) c.13191T>G (p.Phe4397Leu) c.12513T>G (p.Phe4171Leu) c.10974T>G (p.Phe3658Leu) c.13395T>G (p.Phe4465Leu) c.13377T>G (p.Phe4459Leu) c.13353T>G (p.Phe4451Leu) c.13281T>G (p.Phe4427Leu) c.13245T>G (p.Phe4415Leu) c.10098T>G (p.Phe3366Leu) c.9702T>G (p.Phe3234Leu) | |
7 | g.152148715A>G | CA458885049 | KMT2C | c.1400T>C n.2344T>C c.13383T>C (p.Phe4461=) n.2512T>C n.8404T>C c.3785T>C c.10722T>C (p.Phe3574=) n.4842T>C c.3857T>C n.1978T>C n.1928T>C c.1629T>C (p.Phe543=) c.8109T>C (p.Phe2703=) c.13212T>C (p.Phe4404=) c.8999T>C c.3854T>C c.3788T>C n.7923T>C c.8112T>C (p.Phe2704=) c.12777T>C (p.Phe4259=) c.3789T>C n.2227T>C c.5893T>C c.3063T>C (p.Phe1021=) n.11094T>C c.*10732T>C (n.*10732T>C) c.13428T>C (p.Phe4476=) c.13425T>C (p.Phe4475=) c.13263T>C (p.Phe4421=) c.13356T>C (p.Phe4452=) c.13260T>C (p.Phe4420=) c.13380T>C (p.Phe4460=) c.13308T>C (p.Phe4436=) c.13275T>C (p.Phe4425=) c.13191T>C (p.Phe4397=) c.12513T>C (p.Phe4171=) c.10974T>C (p.Phe3658=) c.13395T>C (p.Phe4465=) c.13377T>C (p.Phe4459=) c.13353T>C (p.Phe4451=) c.13281T>C (p.Phe4427=) c.13245T>C (p.Phe4415=) c.10098T>C (p.Phe3366=) c.9702T>C (p.Phe3234=) | |
7 | g.152148715A>T | CA370092029 | KMT2C | c.1400T>A n.2344T>A c.13383T>A (p.Phe4461Leu) n.2512T>A n.8404T>A c.3785T>A c.10722T>A (p.Phe3574Leu) n.4842T>A c.3857T>A n.1978T>A n.1928T>A c.1629T>A (p.Phe543Leu) c.8109T>A (p.Phe2703Leu) c.13212T>A (p.Phe4404Leu) c.8999T>A c.3854T>A c.3788T>A n.7923T>A c.8112T>A (p.Phe2704Leu) c.12777T>A (p.Phe4259Leu) c.3789T>A n.2227T>A c.5893T>A c.3063T>A (p.Phe1021Leu) n.11094T>A c.*10732T>A (n.*10732T>A) c.13428T>A (p.Phe4476Leu) c.13425T>A (p.Phe4475Leu) c.13263T>A (p.Phe4421Leu) c.13356T>A (p.Phe4452Leu) c.13260T>A (p.Phe4420Leu) c.13380T>A (p.Phe4460Leu) c.13308T>A (p.Phe4436Leu) c.13275T>A (p.Phe4425Leu) c.13191T>A (p.Phe4397Leu) c.12513T>A (p.Phe4171Leu) c.10974T>A (p.Phe3658Leu) c.13395T>A (p.Phe4465Leu) c.13377T>A (p.Phe4459Leu) c.13353T>A (p.Phe4451Leu) c.13281T>A (p.Phe4427Leu) c.13245T>A (p.Phe4415Leu) c.10098T>A (p.Phe3366Leu) c.9702T>A (p.Phe3234Leu) | |
7 | g.152148716A>C | CA370092032 | KMT2C | c.1399T>G n.2343T>G c.13382T>G (p.Phe4461Cys) n.2511T>G n.8403T>G c.3784T>G c.10721T>G (p.Phe3574Cys) n.4841T>G c.3856T>G n.1977T>G n.1927T>G c.1628T>G (p.Phe543Cys) c.8108T>G (p.Phe2703Cys) c.13211T>G (p.Phe4404Cys) c.8998T>G c.3853T>G c.3787T>G n.7922T>G c.8111T>G (p.Phe2704Cys) c.12776T>G (p.Phe4259Cys) c.3788T>G n.2226T>G c.5892T>G c.3062T>G (p.Phe1021Cys) n.11093T>G c.*10731T>G (n.*10731T>G) c.13427T>G (p.Phe4476Cys) c.13424T>G (p.Phe4475Cys) c.13262T>G (p.Phe4421Cys) c.13355T>G (p.Phe4452Cys) c.13259T>G (p.Phe4420Cys) c.13379T>G (p.Phe4460Cys) c.13307T>G (p.Phe4436Cys) c.13274T>G (p.Phe4425Cys) c.13190T>G (p.Phe4397Cys) c.12512T>G (p.Phe4171Cys) c.10973T>G (p.Phe3658Cys) c.13394T>G (p.Phe4465Cys) c.13376T>G (p.Phe4459Cys) c.13352T>G (p.Phe4451Cys) c.13280T>G (p.Phe4427Cys) c.13244T>G (p.Phe4415Cys) c.10097T>G (p.Phe3366Cys) c.9701T>G (p.Phe3234Cys) | |
7 | g.152148716A>G | CA370092035 | KMT2C | c.1399T>C n.2343T>C c.13382T>C (p.Phe4461Ser) n.2511T>C n.8403T>C c.3784T>C c.10721T>C (p.Phe3574Ser) n.4841T>C c.3856T>C n.1977T>C n.1927T>C c.1628T>C (p.Phe543Ser) c.8108T>C (p.Phe2703Ser) c.13211T>C (p.Phe4404Ser) c.8998T>C c.3853T>C c.3787T>C n.7922T>C c.8111T>C (p.Phe2704Ser) c.12776T>C (p.Phe4259Ser) c.3788T>C n.2226T>C c.5892T>C c.3062T>C (p.Phe1021Ser) n.11093T>C c.*10731T>C (n.*10731T>C) c.13427T>C (p.Phe4476Ser) c.13424T>C (p.Phe4475Ser) c.13262T>C (p.Phe4421Ser) c.13355T>C (p.Phe4452Ser) c.13259T>C (p.Phe4420Ser) c.13379T>C (p.Phe4460Ser) c.13307T>C (p.Phe4436Ser) c.13274T>C (p.Phe4425Ser) c.13190T>C (p.Phe4397Ser) c.12512T>C (p.Phe4171Ser) c.10973T>C (p.Phe3658Ser) c.13394T>C (p.Phe4465Ser) c.13376T>C (p.Phe4459Ser) c.13352T>C (p.Phe4451Ser) c.13280T>C (p.Phe4427Ser) c.13244T>C (p.Phe4415Ser) c.10097T>C (p.Phe3366Ser) c.9701T>C (p.Phe3234Ser) | |
7 | g.152148716A>T | CA370092033 | KMT2C | c.1399T>A n.2343T>A c.13382T>A (p.Phe4461Tyr) n.2511T>A n.8403T>A c.3784T>A c.10721T>A (p.Phe3574Tyr) n.4841T>A c.3856T>A n.1977T>A n.1927T>A c.1628T>A (p.Phe543Tyr) c.8108T>A (p.Phe2703Tyr) c.13211T>A (p.Phe4404Tyr) c.8998T>A c.3853T>A c.3787T>A n.7922T>A c.8111T>A (p.Phe2704Tyr) c.12776T>A (p.Phe4259Tyr) c.3788T>A n.2226T>A c.5892T>A c.3062T>A (p.Phe1021Tyr) n.11093T>A c.*10731T>A (n.*10731T>A) c.13427T>A (p.Phe4476Tyr) c.13424T>A (p.Phe4475Tyr) c.13262T>A (p.Phe4421Tyr) c.13355T>A (p.Phe4452Tyr) c.13259T>A (p.Phe4420Tyr) c.13379T>A (p.Phe4460Tyr) c.13307T>A (p.Phe4436Tyr) c.13274T>A (p.Phe4425Tyr) c.13190T>A (p.Phe4397Tyr) c.12512T>A (p.Phe4171Tyr) c.10973T>A (p.Phe3658Tyr) c.13394T>A (p.Phe4465Tyr) c.13376T>A (p.Phe4459Tyr) c.13352T>A (p.Phe4451Tyr) c.13280T>A (p.Phe4427Tyr) c.13244T>A (p.Phe4415Tyr) c.10097T>A (p.Phe3366Tyr) c.9701T>A (p.Phe3234Tyr) | |
7 | g.152148717A>C | CA370092040 | KMT2C | c.1398T>G n.2342T>G c.13381T>G (p.Phe4461Val) n.2510T>G n.8402T>G c.3783T>G c.10720T>G (p.Phe3574Val) n.4840T>G c.3855T>G n.1976T>G n.1926T>G c.1627T>G (p.Phe543Val) c.8107T>G (p.Phe2703Val) c.13210T>G (p.Phe4404Val) c.8997T>G c.3852T>G c.3786T>G n.7921T>G c.8110T>G (p.Phe2704Val) c.12775T>G (p.Phe4259Val) c.3787T>G n.2225T>G c.5891T>G c.3061T>G (p.Phe1021Val) n.11092T>G c.*10730T>G (n.*10730T>G) c.13426T>G (p.Phe4476Val) c.13423T>G (p.Phe4475Val) c.13261T>G (p.Phe4421Val) c.13354T>G (p.Phe4452Val) c.13258T>G (p.Phe4420Val) c.13378T>G (p.Phe4460Val) c.13306T>G (p.Phe4436Val) c.13273T>G (p.Phe4425Val) c.13189T>G (p.Phe4397Val) c.12511T>G (p.Phe4171Val) c.10972T>G (p.Phe3658Val) c.13393T>G (p.Phe4465Val) c.13375T>G (p.Phe4459Val) c.13351T>G (p.Phe4451Val) c.13279T>G (p.Phe4427Val) c.13243T>G (p.Phe4415Val) c.10096T>G (p.Phe3366Val) c.9700T>G (p.Phe3234Val) | |
7 | g.152148717A>G | CA370092042 | KMT2C | c.1398T>C n.2342T>C c.13381T>C (p.Phe4461Leu) n.2510T>C n.8402T>C c.3783T>C c.10720T>C (p.Phe3574Leu) n.4840T>C c.3855T>C n.1976T>C n.1926T>C c.1627T>C (p.Phe543Leu) c.8107T>C (p.Phe2703Leu) c.13210T>C (p.Phe4404Leu) c.8997T>C c.3852T>C c.3786T>C n.7921T>C c.8110T>C (p.Phe2704Leu) c.12775T>C (p.Phe4259Leu) c.3787T>C n.2225T>C c.5891T>C c.3061T>C (p.Phe1021Leu) n.11092T>C c.*10730T>C (n.*10730T>C) c.13426T>C (p.Phe4476Leu) c.13423T>C (p.Phe4475Leu) c.13261T>C (p.Phe4421Leu) c.13354T>C (p.Phe4452Leu) c.13258T>C (p.Phe4420Leu) c.13378T>C (p.Phe4460Leu) c.13306T>C (p.Phe4436Leu) c.13273T>C (p.Phe4425Leu) c.13189T>C (p.Phe4397Leu) c.12511T>C (p.Phe4171Leu) c.10972T>C (p.Phe3658Leu) c.13393T>C (p.Phe4465Leu) c.13375T>C (p.Phe4459Leu) c.13351T>C (p.Phe4451Leu) c.13279T>C (p.Phe4427Leu) c.13243T>C (p.Phe4415Leu) c.10096T>C (p.Phe3366Leu) c.9700T>C (p.Phe3234Leu) | |
7 | g.152148717A>T | CA370092044 | KMT2C | c.1398T>A n.2342T>A c.13381T>A (p.Phe4461Ile) n.2510T>A n.8402T>A c.3783T>A c.10720T>A (p.Phe3574Ile) n.4840T>A c.3855T>A n.1976T>A n.1926T>A c.1627T>A (p.Phe543Ile) c.8107T>A (p.Phe2703Ile) c.13210T>A (p.Phe4404Ile) c.8997T>A c.3852T>A c.3786T>A n.7921T>A c.8110T>A (p.Phe2704Ile) c.12775T>A (p.Phe4259Ile) c.3787T>A n.2225T>A c.5891T>A c.3061T>A (p.Phe1021Ile) n.11092T>A c.*10730T>A (n.*10730T>A) c.13426T>A (p.Phe4476Ile) c.13423T>A (p.Phe4475Ile) c.13261T>A (p.Phe4421Ile) c.13354T>A (p.Phe4452Ile) c.13258T>A (p.Phe4420Ile) c.13378T>A (p.Phe4460Ile) c.13306T>A (p.Phe4436Ile) c.13273T>A (p.Phe4425Ile) c.13189T>A (p.Phe4397Ile) c.12511T>A (p.Phe4171Ile) c.10972T>A (p.Phe3658Ile) c.13393T>A (p.Phe4465Ile) c.13375T>A (p.Phe4459Ile) c.13351T>A (p.Phe4451Ile) c.13279T>A (p.Phe4427Ile) c.13243T>A (p.Phe4415Ile) c.10096T>A (p.Phe3366Ile) c.9700T>A (p.Phe3234Ile) | |
7 | g.152148718G>A | CA458885055 | KMT2C | c.1397C>T n.2341C>T c.13380C>T (p.Cys4460=) n.2509C>T n.8401C>T c.3782C>T c.10719C>T (p.Cys3573=) n.4839C>T c.3854C>T n.1975C>T n.1925C>T c.1626C>T (p.Cys542=) c.8106C>T (p.Cys2702=) c.13209C>T (p.Cys4403=) c.8996C>T c.3851C>T c.3785C>T n.7920C>T c.8109C>T (p.Cys2703=) c.12774C>T (p.Cys4258=) c.3786C>T n.2224C>T c.5890C>T c.3060C>T (p.Cys1020=) n.11091C>T c.*10729C>T (n.*10729C>T) c.13425C>T (p.Cys4475=) c.13422C>T (p.Cys4474=) c.13260C>T (p.Cys4420=) c.13353C>T (p.Cys4451=) c.13257C>T (p.Cys4419=) c.13377C>T (p.Cys4459=) c.13305C>T (p.Cys4435=) c.13272C>T (p.Cys4424=) c.13188C>T (p.Cys4396=) c.12510C>T (p.Cys4170=) c.10971C>T (p.Cys3657=) c.13392C>T (p.Cys4464=) c.13374C>T (p.Cys4458=) c.13350C>T (p.Cys4450=) c.13278C>T (p.Cys4426=) c.13242C>T (p.Cys4414=) c.10095C>T (p.Cys3365=) c.9699C>T (p.Cys3233=) | dbSNP |
7 | g.152148718G>C | CA370092047 | KMT2C | c.1397C>G n.2341C>G c.13380C>G (p.Cys4460Trp) n.2509C>G n.8401C>G c.3782C>G c.10719C>G (p.Cys3573Trp) n.4839C>G c.3854C>G n.1975C>G n.1925C>G c.1626C>G (p.Cys542Trp) c.8106C>G (p.Cys2702Trp) c.13209C>G (p.Cys4403Trp) c.8996C>G c.3851C>G c.3785C>G n.7920C>G c.8109C>G (p.Cys2703Trp) c.12774C>G (p.Cys4258Trp) c.3786C>G n.2224C>G c.5890C>G c.3060C>G (p.Cys1020Trp) n.11091C>G c.*10729C>G (n.*10729C>G) c.13425C>G (p.Cys4475Trp) c.13422C>G (p.Cys4474Trp) c.13260C>G (p.Cys4420Trp) c.13353C>G (p.Cys4451Trp) c.13257C>G (p.Cys4419Trp) c.13377C>G (p.Cys4459Trp) c.13305C>G (p.Cys4435Trp) c.13272C>G (p.Cys4424Trp) c.13188C>G (p.Cys4396Trp) c.12510C>G (p.Cys4170Trp) c.10971C>G (p.Cys3657Trp) c.13392C>G (p.Cys4464Trp) c.13374C>G (p.Cys4458Trp) c.13350C>G (p.Cys4450Trp) c.13278C>G (p.Cys4426Trp) c.13242C>G (p.Cys4414Trp) c.10095C>G (p.Cys3365Trp) c.9699C>G (p.Cys3233Trp) | dbSNP |
7 | g.152148718G= | CA1752986192 | KMT2C | c.1397C= n.2341C= c.13380C= (p.Cys4460=) n.2509C= n.8401C= c.3782C= c.10719C= (p.Cys3573=) n.4839C= c.3854C= n.1975C= n.1925C= c.1626C= (p.Cys542=) c.8106C= (p.Cys2702=) c.13209C= (p.Cys4403=) c.8996C= c.3851C= c.3785C= n.7920C= c.8109C= (p.Cys2703=) c.12774C= (p.Cys4258=) c.3786C= n.2224C= c.5890C= c.3060C= (p.Cys1020=) n.11091C= c.*10729C= (n.*10729C=) c.13425C= (p.Cys4475=) c.13422C= (p.Cys4474=) c.13260C= (p.Cys4420=) c.13353C= (p.Cys4451=) c.13257C= (p.Cys4419=) c.13377C= (p.Cys4459=) c.13305C= (p.Cys4435=) c.13272C= (p.Cys4424=) c.13188C= (p.Cys4396=) c.12510C= (p.Cys4170=) c.10971C= (p.Cys3657=) c.13392C= (p.Cys4464=) c.13374C= (p.Cys4458=) c.13350C= (p.Cys4450=) c.13278C= (p.Cys4426=) c.13242C= (p.Cys4414=) c.10095C= (p.Cys3365=) c.9699C= (p.Cys3233=) | |
7 | g.152148718G>T | CA370092049 | KMT2C | c.1397C>A n.2341C>A c.13380C>A (p.Cys4460Ter) n.2509C>A n.8401C>A c.3782C>A c.10719C>A (p.Cys3573Ter) n.4839C>A c.3854C>A n.1975C>A n.1925C>A c.1626C>A (p.Cys542Ter) c.8106C>A (p.Cys2702Ter) c.13209C>A (p.Cys4403Ter) c.8996C>A c.3851C>A c.3785C>A n.7920C>A c.8109C>A (p.Cys2703Ter) c.12774C>A (p.Cys4258Ter) c.3786C>A n.2224C>A c.5890C>A c.3060C>A (p.Cys1020Ter) n.11091C>A c.*10729C>A (n.*10729C>A) c.13425C>A (p.Cys4475Ter) c.13422C>A (p.Cys4474Ter) c.13260C>A (p.Cys4420Ter) c.13353C>A (p.Cys4451Ter) c.13257C>A (p.Cys4419Ter) c.13377C>A (p.Cys4459Ter) c.13305C>A (p.Cys4435Ter) c.13272C>A (p.Cys4424Ter) c.13188C>A (p.Cys4396Ter) c.12510C>A (p.Cys4170Ter) c.10971C>A (p.Cys3657Ter) c.13392C>A (p.Cys4464Ter) c.13374C>A (p.Cys4458Ter) c.13350C>A (p.Cys4450Ter) c.13278C>A (p.Cys4426Ter) c.13242C>A (p.Cys4414Ter) c.10095C>A (p.Cys3365Ter) c.9699C>A (p.Cys3233Ter) | |
7 | g.152148719C>A | CA370092052 | KMT2C | c.1396G>T n.2340G>T c.13379G>T (p.Cys4460Phe) n.2508G>T n.8400G>T c.3781G>T c.10718G>T (p.Cys3573Phe) n.4838G>T c.3853G>T n.1974G>T n.1924G>T c.1625G>T (p.Cys542Phe) c.8105G>T (p.Cys2702Phe) c.13208G>T (p.Cys4403Phe) c.8995G>T c.3850G>T c.3784G>T n.7919G>T c.8108G>T (p.Cys2703Phe) c.12773G>T (p.Cys4258Phe) c.3785G>T n.2223G>T c.5889G>T c.3059G>T (p.Cys1020Phe) n.11090G>T c.*10728G>T (n.*10728G>T) c.13424G>T (p.Cys4475Phe) c.13421G>T (p.Cys4474Phe) c.13259G>T (p.Cys4420Phe) c.13352G>T (p.Cys4451Phe) c.13256G>T (p.Cys4419Phe) c.13376G>T (p.Cys4459Phe) c.13304G>T (p.Cys4435Phe) c.13271G>T (p.Cys4424Phe) c.13187G>T (p.Cys4396Phe) c.12509G>T (p.Cys4170Phe) c.10970G>T (p.Cys3657Phe) c.13391G>T (p.Cys4464Phe) c.13373G>T (p.Cys4458Phe) c.13349G>T (p.Cys4450Phe) c.13277G>T (p.Cys4426Phe) c.13241G>T (p.Cys4414Phe) c.10094G>T (p.Cys3365Phe) c.9698G>T (p.Cys3233Phe) | |
7 | g.152148719C>G | CA370092053 | KMT2C | c.1396G>C n.2340G>C c.13379G>C (p.Cys4460Ser) n.2508G>C n.8400G>C c.3781G>C c.10718G>C (p.Cys3573Ser) n.4838G>C c.3853G>C n.1974G>C n.1924G>C c.1625G>C (p.Cys542Ser) c.8105G>C (p.Cys2702Ser) c.13208G>C (p.Cys4403Ser) c.8995G>C c.3850G>C c.3784G>C n.7919G>C c.8108G>C (p.Cys2703Ser) c.12773G>C (p.Cys4258Ser) c.3785G>C n.2223G>C c.5889G>C c.3059G>C (p.Cys1020Ser) n.11090G>C c.*10728G>C (n.*10728G>C) c.13424G>C (p.Cys4475Ser) c.13421G>C (p.Cys4474Ser) c.13259G>C (p.Cys4420Ser) c.13352G>C (p.Cys4451Ser) c.13256G>C (p.Cys4419Ser) c.13376G>C (p.Cys4459Ser) c.13304G>C (p.Cys4435Ser) c.13271G>C (p.Cys4424Ser) c.13187G>C (p.Cys4396Ser) c.12509G>C (p.Cys4170Ser) c.10970G>C (p.Cys3657Ser) c.13391G>C (p.Cys4464Ser) c.13373G>C (p.Cys4458Ser) c.13349G>C (p.Cys4450Ser) c.13277G>C (p.Cys4426Ser) c.13241G>C (p.Cys4414Ser) c.10094G>C (p.Cys3365Ser) c.9698G>C (p.Cys3233Ser) | |
7 | g.152148719C>T | CA370092056 | KMT2C | c.1396G>A n.2340G>A c.13379G>A (p.Cys4460Tyr) n.2508G>A n.8400G>A c.3781G>A c.10718G>A (p.Cys3573Tyr) n.4838G>A c.3853G>A n.1974G>A n.1924G>A c.1625G>A (p.Cys542Tyr) c.8105G>A (p.Cys2702Tyr) c.13208G>A (p.Cys4403Tyr) c.8995G>A c.3850G>A c.3784G>A n.7919G>A c.8108G>A (p.Cys2703Tyr) c.12773G>A (p.Cys4258Tyr) c.3785G>A n.2223G>A c.5889G>A c.3059G>A (p.Cys1020Tyr) n.11090G>A c.*10728G>A (n.*10728G>A) c.13424G>A (p.Cys4475Tyr) c.13421G>A (p.Cys4474Tyr) c.13259G>A (p.Cys4420Tyr) c.13352G>A (p.Cys4451Tyr) c.13256G>A (p.Cys4419Tyr) c.13376G>A (p.Cys4459Tyr) c.13304G>A (p.Cys4435Tyr) c.13271G>A (p.Cys4424Tyr) c.13187G>A (p.Cys4396Tyr) c.12509G>A (p.Cys4170Tyr) c.10970G>A (p.Cys3657Tyr) c.13391G>A (p.Cys4464Tyr) c.13373G>A (p.Cys4458Tyr) c.13349G>A (p.Cys4450Tyr) c.13277G>A (p.Cys4426Tyr) c.13241G>A (p.Cys4414Tyr) c.10094G>A (p.Cys3365Tyr) c.9698G>A (p.Cys3233Tyr) | |
7 | g.152148720A>C | CA370092059 | KMT2C | c.1395T>G n.2339T>G c.13378T>G (p.Cys4460Gly) n.2507T>G n.8399T>G c.3780T>G c.10717T>G (p.Cys3573Gly) n.4837T>G c.3852T>G n.1973T>G n.1923T>G c.1624T>G (p.Cys542Gly) c.8104T>G (p.Cys2702Gly) c.13207T>G (p.Cys4403Gly) c.8994T>G c.3849T>G c.3783T>G n.7918T>G c.8107T>G (p.Cys2703Gly) c.12772T>G (p.Cys4258Gly) c.3784T>G n.2222T>G c.5888T>G c.3058T>G (p.Cys1020Gly) n.11089T>G c.*10727T>G (n.*10727T>G) c.13423T>G (p.Cys4475Gly) c.13420T>G (p.Cys4474Gly) c.13258T>G (p.Cys4420Gly) c.13351T>G (p.Cys4451Gly) c.13255T>G (p.Cys4419Gly) c.13375T>G (p.Cys4459Gly) c.13303T>G (p.Cys4435Gly) c.13270T>G (p.Cys4424Gly) c.13186T>G (p.Cys4396Gly) c.12508T>G (p.Cys4170Gly) c.10969T>G (p.Cys3657Gly) c.13390T>G (p.Cys4464Gly) c.13372T>G (p.Cys4458Gly) c.13348T>G (p.Cys4450Gly) c.13276T>G (p.Cys4426Gly) c.13240T>G (p.Cys4414Gly) c.10093T>G (p.Cys3365Gly) c.9697T>G (p.Cys3233Gly) | ClinVar |
7 | g.152148720A>G | CA370092061 | KMT2C | c.1395T>C n.2339T>C c.13378T>C (p.Cys4460Arg) n.2507T>C n.8399T>C c.3780T>C c.10717T>C (p.Cys3573Arg) n.4837T>C c.3852T>C n.1973T>C n.1923T>C c.1624T>C (p.Cys542Arg) c.8104T>C (p.Cys2702Arg) c.13207T>C (p.Cys4403Arg) c.8994T>C c.3849T>C c.3783T>C n.7918T>C c.8107T>C (p.Cys2703Arg) c.12772T>C (p.Cys4258Arg) c.3784T>C n.2222T>C c.5888T>C c.3058T>C (p.Cys1020Arg) n.11089T>C c.*10727T>C (n.*10727T>C) c.13423T>C (p.Cys4475Arg) c.13420T>C (p.Cys4474Arg) c.13258T>C (p.Cys4420Arg) c.13351T>C (p.Cys4451Arg) c.13255T>C (p.Cys4419Arg) c.13375T>C (p.Cys4459Arg) c.13303T>C (p.Cys4435Arg) c.13270T>C (p.Cys4424Arg) c.13186T>C (p.Cys4396Arg) c.12508T>C (p.Cys4170Arg) c.10969T>C (p.Cys3657Arg) c.13390T>C (p.Cys4464Arg) c.13372T>C (p.Cys4458Arg) c.13348T>C (p.Cys4450Arg) c.13276T>C (p.Cys4426Arg) c.13240T>C (p.Cys4414Arg) c.10093T>C (p.Cys3365Arg) c.9697T>C (p.Cys3233Arg) | |
7 | g.152148720A>T | CA370092064 | KMT2C | c.1395T>A n.2339T>A c.13378T>A (p.Cys4460Ser) n.2507T>A n.8399T>A c.3780T>A c.10717T>A (p.Cys3573Ser) n.4837T>A c.3852T>A n.1973T>A n.1923T>A c.1624T>A (p.Cys542Ser) c.8104T>A (p.Cys2702Ser) c.13207T>A (p.Cys4403Ser) c.8994T>A c.3849T>A c.3783T>A n.7918T>A c.8107T>A (p.Cys2703Ser) c.12772T>A (p.Cys4258Ser) c.3784T>A n.2222T>A c.5888T>A c.3058T>A (p.Cys1020Ser) n.11089T>A c.*10727T>A (n.*10727T>A) c.13423T>A (p.Cys4475Ser) c.13420T>A (p.Cys4474Ser) c.13258T>A (p.Cys4420Ser) c.13351T>A (p.Cys4451Ser) c.13255T>A (p.Cys4419Ser) c.13375T>A (p.Cys4459Ser) c.13303T>A (p.Cys4435Ser) c.13270T>A (p.Cys4424Ser) c.13186T>A (p.Cys4396Ser) c.12508T>A (p.Cys4170Ser) c.10969T>A (p.Cys3657Ser) c.13390T>A (p.Cys4464Ser) c.13372T>A (p.Cys4458Ser) c.13348T>A (p.Cys4450Ser) c.13276T>A (p.Cys4426Ser) c.13240T>A (p.Cys4414Ser) c.10093T>A (p.Cys3365Ser) c.9697T>A (p.Cys3233Ser) | |
7 | g.152148721A>C | CA370092828 | KMT2C | c.1394T>G n.2338T>G c.13377T>G (p.Cys4459Trp) n.2506T>G n.8398T>G c.3779T>G c.10716T>G (p.Cys3572Trp) n.4836T>G c.3851T>G n.1972T>G n.1922T>G c.1623T>G (p.Cys541Trp) c.8103T>G (p.Cys2701Trp) c.13206T>G (p.Cys4402Trp) c.8993T>G c.3848T>G c.3782T>G n.7917T>G c.8106T>G (p.Cys2702Trp) c.12771T>G (p.Cys4257Trp) c.3783T>G n.2221T>G c.5887T>G c.3057T>G (p.Cys1019Trp) n.11088T>G c.*10726T>G (n.*10726T>G) c.13422T>G (p.Cys4474Trp) c.13419T>G (p.Cys4473Trp) c.13257T>G (p.Cys4419Trp) c.13350T>G (p.Cys4450Trp) c.13254T>G (p.Cys4418Trp) c.13374T>G (p.Cys4458Trp) c.13302T>G (p.Cys4434Trp) c.13269T>G (p.Cys4423Trp) c.13185T>G (p.Cys4395Trp) c.12507T>G (p.Cys4169Trp) c.10968T>G (p.Cys3656Trp) c.13389T>G (p.Cys4463Trp) c.13371T>G (p.Cys4457Trp) c.13347T>G (p.Cys4449Trp) c.13275T>G (p.Cys4425Trp) c.13239T>G (p.Cys4413Trp) c.10092T>G (p.Cys3364Trp) c.9696T>G (p.Cys3232Trp) | |
7 | g.152148721A>G | CA458884614 | KMT2C | c.1394T>C n.2338T>C c.13377T>C (p.Cys4459=) n.2506T>C n.8398T>C c.3779T>C c.10716T>C (p.Cys3572=) n.4836T>C c.3851T>C n.1972T>C n.1922T>C c.1623T>C (p.Cys541=) c.8103T>C (p.Cys2701=) c.13206T>C (p.Cys4402=) c.8993T>C c.3848T>C c.3782T>C n.7917T>C c.8106T>C (p.Cys2702=) c.12771T>C (p.Cys4257=) c.3783T>C n.2221T>C c.5887T>C c.3057T>C (p.Cys1019=) n.11088T>C c.*10726T>C (n.*10726T>C) c.13422T>C (p.Cys4474=) c.13419T>C (p.Cys4473=) c.13257T>C (p.Cys4419=) c.13350T>C (p.Cys4450=) c.13254T>C (p.Cys4418=) c.13374T>C (p.Cys4458=) c.13302T>C (p.Cys4434=) c.13269T>C (p.Cys4423=) c.13185T>C (p.Cys4395=) c.12507T>C (p.Cys4169=) c.10968T>C (p.Cys3656=) c.13389T>C (p.Cys4463=) c.13371T>C (p.Cys4457=) c.13347T>C (p.Cys4449=) c.13275T>C (p.Cys4425=) c.13239T>C (p.Cys4413=) c.10092T>C (p.Cys3364=) c.9696T>C (p.Cys3232=) | |
7 | g.152148721A>T | CA370092830 | KMT2C | c.1394T>A n.2338T>A c.13377T>A (p.Cys4459Ter) n.2506T>A n.8398T>A c.3779T>A c.10716T>A (p.Cys3572Ter) n.4836T>A c.3851T>A n.1972T>A n.1922T>A c.1623T>A (p.Cys541Ter) c.8103T>A (p.Cys2701Ter) c.13206T>A (p.Cys4402Ter) c.8993T>A c.3848T>A c.3782T>A n.7917T>A c.8106T>A (p.Cys2702Ter) c.12771T>A (p.Cys4257Ter) c.3783T>A n.2221T>A c.5887T>A c.3057T>A (p.Cys1019Ter) n.11088T>A c.*10726T>A (n.*10726T>A) c.13422T>A (p.Cys4474Ter) c.13419T>A (p.Cys4473Ter) c.13257T>A (p.Cys4419Ter) c.13350T>A (p.Cys4450Ter) c.13254T>A (p.Cys4418Ter) c.13374T>A (p.Cys4458Ter) c.13302T>A (p.Cys4434Ter) c.13269T>A (p.Cys4423Ter) c.13185T>A (p.Cys4395Ter) c.12507T>A (p.Cys4169Ter) c.10968T>A (p.Cys3656Ter) c.13389T>A (p.Cys4463Ter) c.13371T>A (p.Cys4457Ter) c.13347T>A (p.Cys4449Ter) c.13275T>A (p.Cys4425Ter) c.13239T>A (p.Cys4413Ter) c.10092T>A (p.Cys3364Ter) c.9696T>A (p.Cys3232Ter) | |
7 | g.152148722_152148723insCAAACACACCCAACAC | CA2778459752 | KMT2C | c.1394_1395insGTTGGGTGTGTTTGGT n.2338_2339insGTTGGGTGTGTTTGGT c.13377_13378insGTTGGGTGTGTTTGGT (p.Cys4460ValfsTer10) n.2506_2507insGTTGGGTGTGTTTGGT n.8398_8399insGTTGGGTGTGTTTGGT c.3779_3780insGTTGGGTGTGTTTGGT c.10716_10717insGTTGGGTGTGTTTGGT (p.Cys3573ValfsTer10) n.4836_4837insGTTGGGTGTGTTTGGT c.3851_3852insGTTGGGTGTGTTTGGT n.1972_1973insGTTGGGTGTGTTTGGT n.1922_1923insGTTGGGTGTGTTTGGT c.1623_1624insGTTGGGTGTGTTTGGT (p.Cys542ValfsTer10) c.8103_8104insGTTGGGTGTGTTTGGT (p.Cys2702ValfsTer10) c.13206_13207insGTTGGGTGTGTTTGGT (p.Cys4403ValfsTer10) c.8993_8994insGTTGGGTGTGTTTGGT c.3848_3849insGTTGGGTGTGTTTGGT c.3782_3783insGTTGGGTGTGTTTGGT n.7917_7918insGTTGGGTGTGTTTGGT c.8106_8107insGTTGGGTGTGTTTGGT (p.Cys2703ValfsTer10) c.12771_12772insGTTGGGTGTGTTTGGT (p.Cys4258ValfsTer10) c.3783_3784insGTTGGGTGTGTTTGGT n.2221_2222insGTTGGGTGTGTTTGGT c.5887_5888insGTTGGGTGTGTTTGGT c.3057_3058insGTTGGGTGTGTTTGGT (p.Cys1020ValfsTer10) n.11088_11089insGTTGGGTGTGTTTGGT c.*10726_*10727insGTTGGGTGTGTTTGGT (n.*10726_*10727insGTTGGGTGTGTTTGGT) c.13422_13423insGTTGGGTGTGTTTGGT (p.Cys4475ValfsTer10) c.13419_13420insGTTGGGTGTGTTTGGT (p.Cys4474ValfsTer10) c.13257_13258insGTTGGGTGTGTTTGGT (p.Cys4420ValfsTer10) c.13350_13351insGTTGGGTGTGTTTGGT (p.Cys4451ValfsTer10) c.13254_13255insGTTGGGTGTGTTTGGT (p.Cys4419ValfsTer10) c.13374_13375insGTTGGGTGTGTTTGGT (p.Cys4459ValfsTer10) c.13302_13303insGTTGGGTGTGTTTGGT (p.Cys4435ValfsTer10) c.13269_13270insGTTGGGTGTGTTTGGT (p.Cys4424ValfsTer10) c.13185_13186insGTTGGGTGTGTTTGGT (p.Cys4396ValfsTer10) c.12507_12508insGTTGGGTGTGTTTGGT (p.Cys4170ValfsTer10) c.10968_10969insGTTGGGTGTGTTTGGT (p.Cys3657ValfsTer10) c.13389_13390insGTTGGGTGTGTTTGGT (p.Cys4464ValfsTer10) c.13371_13372insGTTGGGTGTGTTTGGT (p.Cys4458ValfsTer10) c.13347_13348insGTTGGGTGTGTTTGGT (p.Cys4450ValfsTer10) c.13275_13276insGTTGGGTGTGTTTGGT (p.Cys4426ValfsTer10) c.13239_13240insGTTGGGTGTGTTTGGT (p.Cys4414ValfsTer10) c.10092_10093insGTTGGGTGTGTTTGGT (p.Cys3365ValfsTer10) c.9696_9697insGTTGGGTGTGTTTGGT (p.Cys3233ValfsTer10) | |
7 | g.152148723_152148724insCCAAACACACCCAACACA | CA2778459751 | KMT2C | c.1394_1395insGTTGGGTGTGTTTGGTGT n.2338_2339insGTTGGGTGTGTTTGGTGT c.13377_13378insGTTGGGTGTGTTTGGTGT (p.Cys4459_Cys4460insValGlyCysValTrpCys) n.2506_2507insGTTGGGTGTGTTTGGTGT n.8398_8399insGTTGGGTGTGTTTGGTGT c.3779_3780insGTTGGGTGTGTTTGGTGT c.10716_10717insGTTGGGTGTGTTTGGTGT (p.Cys3572_Cys3573insValGlyCysValTrpCys) n.4836_4837insGTTGGGTGTGTTTGGTGT c.3851_3852insGTTGGGTGTGTTTGGTGT n.1972_1973insGTTGGGTGTGTTTGGTGT n.1922_1923insGTTGGGTGTGTTTGGTGT c.1623_1624insGTTGGGTGTGTTTGGTGT (p.Cys541_Cys542insValGlyCysValTrpCys) c.8103_8104insGTTGGGTGTGTTTGGTGT (p.Cys2701_Cys2702insValGlyCysValTrpCys) c.13206_13207insGTTGGGTGTGTTTGGTGT (p.Cys4402_Cys4403insValGlyCysValTrpCys) c.8993_8994insGTTGGGTGTGTTTGGTGT c.3848_3849insGTTGGGTGTGTTTGGTGT c.3782_3783insGTTGGGTGTGTTTGGTGT n.7917_7918insGTTGGGTGTGTTTGGTGT c.8106_8107insGTTGGGTGTGTTTGGTGT (p.Cys2702_Cys2703insValGlyCysValTrpCys) c.12771_12772insGTTGGGTGTGTTTGGTGT (p.Cys4257_Cys4258insValGlyCysValTrpCys) c.3783_3784insGTTGGGTGTGTTTGGTGT n.2221_2222insGTTGGGTGTGTTTGGTGT c.5887_5888insGTTGGGTGTGTTTGGTGT c.3057_3058insGTTGGGTGTGTTTGGTGT (p.Cys1019_Cys1020insValGlyCysValTrpCys) n.11088_11089insGTTGGGTGTGTTTGGTGT c.*10726_*10727insGTTGGGTGTGTTTGGTGT (n.*10726_*10727insGTTGGGTGTGTTTGGTGT) c.13422_13423insGTTGGGTGTGTTTGGTGT (p.Cys4474_Cys4475insValGlyCysValTrpCys) c.13419_13420insGTTGGGTGTGTTTGGTGT (p.Cys4473_Cys4474insValGlyCysValTrpCys) c.13257_13258insGTTGGGTGTGTTTGGTGT (p.Cys4419_Cys4420insValGlyCysValTrpCys) c.13350_13351insGTTGGGTGTGTTTGGTGT (p.Cys4450_Cys4451insValGlyCysValTrpCys) c.13254_13255insGTTGGGTGTGTTTGGTGT (p.Cys4418_Cys4419insValGlyCysValTrpCys) c.13374_13375insGTTGGGTGTGTTTGGTGT (p.Cys4458_Cys4459insValGlyCysValTrpCys) c.13302_13303insGTTGGGTGTGTTTGGTGT (p.Cys4434_Cys4435insValGlyCysValTrpCys) c.13269_13270insGTTGGGTGTGTTTGGTGT (p.Cys4423_Cys4424insValGlyCysValTrpCys) c.13185_13186insGTTGGGTGTGTTTGGTGT (p.Cys4395_Cys4396insValGlyCysValTrpCys) c.12507_12508insGTTGGGTGTGTTTGGTGT (p.Cys4169_Cys4170insValGlyCysValTrpCys) c.10968_10969insGTTGGGTGTGTTTGGTGT (p.Cys3656_Cys3657insValGlyCysValTrpCys) c.13389_13390insGTTGGGTGTGTTTGGTGT (p.Cys4463_Cys4464insValGlyCysValTrpCys) c.13371_13372insGTTGGGTGTGTTTGGTGT (p.Cys4457_Cys4458insValGlyCysValTrpCys) c.13347_13348insGTTGGGTGTGTTTGGTGT (p.Cys4449_Cys4450insValGlyCysValTrpCys) c.13275_13276insGTTGGGTGTGTTTGGTGT (p.Cys4425_Cys4426insValGlyCysValTrpCys) c.13239_13240insGTTGGGTGTGTTTGGTGT (p.Cys4413_Cys4414insValGlyCysValTrpCys) c.10092_10093insGTTGGGTGTGTTTGGTGT (p.Cys3364_Cys3365insValGlyCysValTrpCys) c.9696_9697insGTTGGGTGTGTTTGGTGT (p.Cys3232_Cys3233insValGlyCysValTrpCys) | |
7 | g.152148722C>A | CA370092832 | KMT2C | c.1393G>T n.2337G>T c.13376G>T (p.Cys4459Phe) n.2505G>T n.8397G>T c.3778G>T c.10715G>T (p.Cys3572Phe) n.4835G>T c.3850G>T n.1971G>T n.1921G>T c.1622G>T (p.Cys541Phe) c.8102G>T (p.Cys2701Phe) c.13205G>T (p.Cys4402Phe) c.8992G>T c.3847G>T c.3781G>T n.7916G>T c.8105G>T (p.Cys2702Phe) c.12770G>T (p.Cys4257Phe) c.3782G>T n.2220G>T c.5886G>T c.3056G>T (p.Cys1019Phe) n.11087G>T c.*10725G>T (n.*10725G>T) c.13421G>T (p.Cys4474Phe) c.13418G>T (p.Cys4473Phe) c.13256G>T (p.Cys4419Phe) c.13349G>T (p.Cys4450Phe) c.13253G>T (p.Cys4418Phe) c.13373G>T (p.Cys4458Phe) c.13301G>T (p.Cys4434Phe) c.13268G>T (p.Cys4423Phe) c.13184G>T (p.Cys4395Phe) c.12506G>T (p.Cys4169Phe) c.10967G>T (p.Cys3656Phe) c.13388G>T (p.Cys4463Phe) c.13370G>T (p.Cys4457Phe) c.13346G>T (p.Cys4449Phe) c.13274G>T (p.Cys4425Phe) c.13238G>T (p.Cys4413Phe) c.10091G>T (p.Cys3364Phe) c.9695G>T (p.Cys3232Phe) | |
7 | g.152148722C>G | CA370092833 | KMT2C | c.1393G>C n.2337G>C c.13376G>C (p.Cys4459Ser) n.2505G>C n.8397G>C c.3778G>C c.10715G>C (p.Cys3572Ser) n.4835G>C c.3850G>C n.1971G>C n.1921G>C c.1622G>C (p.Cys541Ser) c.8102G>C (p.Cys2701Ser) c.13205G>C (p.Cys4402Ser) c.8992G>C c.3847G>C c.3781G>C n.7916G>C c.8105G>C (p.Cys2702Ser) c.12770G>C (p.Cys4257Ser) c.3782G>C n.2220G>C c.5886G>C c.3056G>C (p.Cys1019Ser) n.11087G>C c.*10725G>C (n.*10725G>C) c.13421G>C (p.Cys4474Ser) c.13418G>C (p.Cys4473Ser) c.13256G>C (p.Cys4419Ser) c.13349G>C (p.Cys4450Ser) c.13253G>C (p.Cys4418Ser) c.13373G>C (p.Cys4458Ser) c.13301G>C (p.Cys4434Ser) c.13268G>C (p.Cys4423Ser) c.13184G>C (p.Cys4395Ser) c.12506G>C (p.Cys4169Ser) c.10967G>C (p.Cys3656Ser) c.13388G>C (p.Cys4463Ser) c.13370G>C (p.Cys4457Ser) c.13346G>C (p.Cys4449Ser) c.13274G>C (p.Cys4425Ser) c.13238G>C (p.Cys4413Ser) c.10091G>C (p.Cys3364Ser) c.9695G>C (p.Cys3232Ser) | |
7 | g.152148722C>T | CA370092834 | KMT2C | c.1393G>A n.2337G>A c.13376G>A (p.Cys4459Tyr) n.2505G>A n.8397G>A c.3778G>A c.10715G>A (p.Cys3572Tyr) n.4835G>A c.3850G>A n.1971G>A n.1921G>A c.1622G>A (p.Cys541Tyr) c.8102G>A (p.Cys2701Tyr) c.13205G>A (p.Cys4402Tyr) c.8992G>A c.3847G>A c.3781G>A n.7916G>A c.8105G>A (p.Cys2702Tyr) c.12770G>A (p.Cys4257Tyr) c.3782G>A n.2220G>A c.5886G>A c.3056G>A (p.Cys1019Tyr) n.11087G>A c.*10725G>A (n.*10725G>A) c.13421G>A (p.Cys4474Tyr) c.13418G>A (p.Cys4473Tyr) c.13256G>A (p.Cys4419Tyr) c.13349G>A (p.Cys4450Tyr) c.13253G>A (p.Cys4418Tyr) c.13373G>A (p.Cys4458Tyr) c.13301G>A (p.Cys4434Tyr) c.13268G>A (p.Cys4423Tyr) c.13184G>A (p.Cys4395Tyr) c.12506G>A (p.Cys4169Tyr) c.10967G>A (p.Cys3656Tyr) c.13388G>A (p.Cys4463Tyr) c.13370G>A (p.Cys4457Tyr) c.13346G>A (p.Cys4449Tyr) c.13274G>A (p.Cys4425Tyr) c.13238G>A (p.Cys4413Tyr) c.10091G>A (p.Cys3364Tyr) c.9695G>A (p.Cys3232Tyr) | gnomAD v4 |
7 | g.152148723A>C | CA370092835 | KMT2C | c.1392T>G n.2336T>G c.13375T>G (p.Cys4459Gly) n.2504T>G n.8396T>G c.3777T>G c.10714T>G (p.Cys3572Gly) n.4834T>G c.3849T>G n.1970T>G n.1920T>G c.1621T>G (p.Cys541Gly) c.8101T>G (p.Cys2701Gly) c.13204T>G (p.Cys4402Gly) c.8991T>G c.3846T>G c.3780T>G n.7915T>G c.8104T>G (p.Cys2702Gly) c.12769T>G (p.Cys4257Gly) c.3781T>G n.2219T>G c.5885T>G c.3055T>G (p.Cys1019Gly) n.11086T>G c.*10724T>G (n.*10724T>G) c.13420T>G (p.Cys4474Gly) c.13417T>G (p.Cys4473Gly) c.13255T>G (p.Cys4419Gly) c.13348T>G (p.Cys4450Gly) c.13252T>G (p.Cys4418Gly) c.13372T>G (p.Cys4458Gly) c.13300T>G (p.Cys4434Gly) c.13267T>G (p.Cys4423Gly) c.13183T>G (p.Cys4395Gly) c.12505T>G (p.Cys4169Gly) c.10966T>G (p.Cys3656Gly) c.13387T>G (p.Cys4463Gly) c.13369T>G (p.Cys4457Gly) c.13345T>G (p.Cys4449Gly) c.13273T>G (p.Cys4425Gly) c.13237T>G (p.Cys4413Gly) c.10090T>G (p.Cys3364Gly) c.9694T>G (p.Cys3232Gly) | |
7 | g.152148723A>G | CA370092836 | KMT2C | c.1392T>C n.2336T>C c.13375T>C (p.Cys4459Arg) n.2504T>C n.8396T>C c.3777T>C c.10714T>C (p.Cys3572Arg) n.4834T>C c.3849T>C n.1970T>C n.1920T>C c.1621T>C (p.Cys541Arg) c.8101T>C (p.Cys2701Arg) c.13204T>C (p.Cys4402Arg) c.8991T>C c.3846T>C c.3780T>C n.7915T>C c.8104T>C (p.Cys2702Arg) c.12769T>C (p.Cys4257Arg) c.3781T>C n.2219T>C c.5885T>C c.3055T>C (p.Cys1019Arg) n.11086T>C c.*10724T>C (n.*10724T>C) c.13420T>C (p.Cys4474Arg) c.13417T>C (p.Cys4473Arg) c.13255T>C (p.Cys4419Arg) c.13348T>C (p.Cys4450Arg) c.13252T>C (p.Cys4418Arg) c.13372T>C (p.Cys4458Arg) c.13300T>C (p.Cys4434Arg) c.13267T>C (p.Cys4423Arg) c.13183T>C (p.Cys4395Arg) c.12505T>C (p.Cys4169Arg) c.10966T>C (p.Cys3656Arg) c.13387T>C (p.Cys4463Arg) c.13369T>C (p.Cys4457Arg) c.13345T>C (p.Cys4449Arg) c.13273T>C (p.Cys4425Arg) c.13237T>C (p.Cys4413Arg) c.10090T>C (p.Cys3364Arg) c.9694T>C (p.Cys3232Arg) | |
7 | g.152148723A>T | CA370092837 | KMT2C | c.1392T>A n.2336T>A c.13375T>A (p.Cys4459Ser) n.2504T>A n.8396T>A c.3777T>A c.10714T>A (p.Cys3572Ser) n.4834T>A c.3849T>A n.1970T>A n.1920T>A c.1621T>A (p.Cys541Ser) c.8101T>A (p.Cys2701Ser) c.13204T>A (p.Cys4402Ser) c.8991T>A c.3846T>A c.3780T>A n.7915T>A c.8104T>A (p.Cys2702Ser) c.12769T>A (p.Cys4257Ser) c.3781T>A n.2219T>A c.5885T>A c.3055T>A (p.Cys1019Ser) n.11086T>A c.*10724T>A (n.*10724T>A) c.13420T>A (p.Cys4474Ser) c.13417T>A (p.Cys4473Ser) c.13255T>A (p.Cys4419Ser) c.13348T>A (p.Cys4450Ser) c.13252T>A (p.Cys4418Ser) c.13372T>A (p.Cys4458Ser) c.13300T>A (p.Cys4434Ser) c.13267T>A (p.Cys4423Ser) c.13183T>A (p.Cys4395Ser) c.12505T>A (p.Cys4169Ser) c.10966T>A (p.Cys3656Ser) c.13387T>A (p.Cys4463Ser) c.13369T>A (p.Cys4457Ser) c.13345T>A (p.Cys4449Ser) c.13273T>A (p.Cys4425Ser) c.13237T>A (p.Cys4413Ser) c.10090T>A (p.Cys3364Ser) c.9694T>A (p.Cys3232Ser) | |
7 | g.152148724T>A | CA370092840 | KMT2C | c.1391A>T n.2335A>T c.13374A>T (p.Lys4458Asn) n.2503A>T n.8395A>T c.3776A>T c.10713A>T (p.Lys3571Asn) n.4833A>T c.3848A>T n.1969A>T n.1919A>T c.1620A>T (p.Lys540Asn) c.8100A>T (p.Lys2700Asn) c.13203A>T (p.Lys4401Asn) c.8990A>T c.3845A>T c.3779A>T n.7914A>T c.8103A>T (p.Lys2701Asn) c.12768A>T (p.Lys4256Asn) c.3780A>T n.2218A>T c.5884A>T c.3054A>T (p.Lys1018Asn) n.11085A>T c.*10723A>T (n.*10723A>T) c.13419A>T (p.Lys4473Asn) c.13416A>T (p.Lys4472Asn) c.13254A>T (p.Lys4418Asn) c.13347A>T (p.Lys4449Asn) c.13251A>T (p.Lys4417Asn) c.13371A>T (p.Lys4457Asn) c.13299A>T (p.Lys4433Asn) c.13266A>T (p.Lys4422Asn) c.13182A>T (p.Lys4394Asn) c.12504A>T (p.Lys4168Asn) c.10965A>T (p.Lys3655Asn) c.13386A>T (p.Lys4462Asn) c.13368A>T (p.Lys4456Asn) c.13344A>T (p.Lys4448Asn) c.13272A>T (p.Lys4424Asn) c.13236A>T (p.Lys4412Asn) c.10089A>T (p.Lys3363Asn) c.9693A>T (p.Lys3231Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148724T>C | CA458884620 | KMT2C | c.1391A>G n.2335A>G c.13374A>G (p.Lys4458=) n.2503A>G n.8395A>G c.3776A>G c.10713A>G (p.Lys3571=) n.4833A>G c.3848A>G n.1969A>G n.1919A>G c.1620A>G (p.Lys540=) c.8100A>G (p.Lys2700=) c.13203A>G (p.Lys4401=) c.8990A>G c.3845A>G c.3779A>G n.7914A>G c.8103A>G (p.Lys2701=) c.12768A>G (p.Lys4256=) c.3780A>G n.2218A>G c.5884A>G c.3054A>G (p.Lys1018=) n.11085A>G c.*10723A>G (n.*10723A>G) c.13419A>G (p.Lys4473=) c.13416A>G (p.Lys4472=) c.13254A>G (p.Lys4418=) c.13347A>G (p.Lys4449=) c.13251A>G (p.Lys4417=) c.13371A>G (p.Lys4457=) c.13299A>G (p.Lys4433=) c.13266A>G (p.Lys4422=) c.13182A>G (p.Lys4394=) c.12504A>G (p.Lys4168=) c.10965A>G (p.Lys3655=) c.13386A>G (p.Lys4462=) c.13368A>G (p.Lys4456=) c.13344A>G (p.Lys4448=) c.13272A>G (p.Lys4424=) c.13236A>G (p.Lys4412=) c.10089A>G (p.Lys3363=) c.9693A>G (p.Lys3231=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148724T>G | CA370092838 | KMT2C | c.1391A>C n.2335A>C c.13374A>C (p.Lys4458Asn) n.2503A>C n.8395A>C c.3776A>C c.10713A>C (p.Lys3571Asn) n.4833A>C c.3848A>C n.1969A>C n.1919A>C c.1620A>C (p.Lys540Asn) c.8100A>C (p.Lys2700Asn) c.13203A>C (p.Lys4401Asn) c.8990A>C c.3845A>C c.3779A>C n.7914A>C c.8103A>C (p.Lys2701Asn) c.12768A>C (p.Lys4256Asn) c.3780A>C n.2218A>C c.5884A>C c.3054A>C (p.Lys1018Asn) n.11085A>C c.*10723A>C (n.*10723A>C) c.13419A>C (p.Lys4473Asn) c.13416A>C (p.Lys4472Asn) c.13254A>C (p.Lys4418Asn) c.13347A>C (p.Lys4449Asn) c.13251A>C (p.Lys4417Asn) c.13371A>C (p.Lys4457Asn) c.13299A>C (p.Lys4433Asn) c.13266A>C (p.Lys4422Asn) c.13182A>C (p.Lys4394Asn) c.12504A>C (p.Lys4168Asn) c.10965A>C (p.Lys3655Asn) c.13386A>C (p.Lys4462Asn) c.13368A>C (p.Lys4456Asn) c.13344A>C (p.Lys4448Asn) c.13272A>C (p.Lys4424Asn) c.13236A>C (p.Lys4412Asn) c.10089A>C (p.Lys3363Asn) c.9693A>C (p.Lys3231Asn) | |
7 | g.152148724T= | CA1752986194 | KMT2C | c.1391A= n.2335A= c.13374A= (p.Lys4458=) n.2503A= n.8395A= c.3776A= c.10713A= (p.Lys3571=) n.4833A= c.3848A= n.1969A= n.1919A= c.1620A= (p.Lys540=) c.8100A= (p.Lys2700=) c.13203A= (p.Lys4401=) c.8990A= c.3845A= c.3779A= n.7914A= c.8103A= (p.Lys2701=) c.12768A= (p.Lys4256=) c.3780A= n.2218A= c.5884A= c.3054A= (p.Lys1018=) n.11085A= c.*10723A= (n.*10723A=) c.13419A= (p.Lys4473=) c.13416A= (p.Lys4472=) c.13254A= (p.Lys4418=) c.13347A= (p.Lys4449=) c.13251A= (p.Lys4417=) c.13371A= (p.Lys4457=) c.13299A= (p.Lys4433=) c.13266A= (p.Lys4422=) c.13182A= (p.Lys4394=) c.12504A= (p.Lys4168=) c.10965A= (p.Lys3655=) c.13386A= (p.Lys4462=) c.13368A= (p.Lys4456=) c.13344A= (p.Lys4448=) c.13272A= (p.Lys4424=) c.13236A= (p.Lys4412=) c.10089A= (p.Lys3363=) c.9693A= (p.Lys3231=) | |
7 | g.152148725T>A | CA370092842 | KMT2C | c.1390A>T n.2334A>T c.13373A>T (p.Lys4458Ile) n.2502A>T n.8394A>T c.3775A>T c.10712A>T (p.Lys3571Ile) n.4832A>T c.3847A>T n.1968A>T n.1918A>T c.1619A>T (p.Lys540Ile) c.8099A>T (p.Lys2700Ile) c.13202A>T (p.Lys4401Ile) c.8989A>T c.3844A>T c.3778A>T n.7913A>T c.8102A>T (p.Lys2701Ile) c.12767A>T (p.Lys4256Ile) c.3779A>T n.2217A>T c.5883A>T c.3053A>T (p.Lys1018Ile) n.11084A>T c.*10722A>T (n.*10722A>T) c.13418A>T (p.Lys4473Ile) c.13415A>T (p.Lys4472Ile) c.13253A>T (p.Lys4418Ile) c.13346A>T (p.Lys4449Ile) c.13250A>T (p.Lys4417Ile) c.13370A>T (p.Lys4457Ile) c.13298A>T (p.Lys4433Ile) c.13265A>T (p.Lys4422Ile) c.13181A>T (p.Lys4394Ile) c.12503A>T (p.Lys4168Ile) c.10964A>T (p.Lys3655Ile) c.13385A>T (p.Lys4462Ile) c.13367A>T (p.Lys4456Ile) c.13343A>T (p.Lys4448Ile) c.13271A>T (p.Lys4424Ile) c.13235A>T (p.Lys4412Ile) c.10088A>T (p.Lys3363Ile) c.9692A>T (p.Lys3231Ile) | |
7 | g.152148725T>C | CA370092844 | KMT2C | c.1390A>G n.2334A>G c.13373A>G (p.Lys4458Arg) n.2502A>G n.8394A>G c.3775A>G c.10712A>G (p.Lys3571Arg) n.4832A>G c.3847A>G n.1968A>G n.1918A>G c.1619A>G (p.Lys540Arg) c.8099A>G (p.Lys2700Arg) c.13202A>G (p.Lys4401Arg) c.8989A>G c.3844A>G c.3778A>G n.7913A>G c.8102A>G (p.Lys2701Arg) c.12767A>G (p.Lys4256Arg) c.3779A>G n.2217A>G c.5883A>G c.3053A>G (p.Lys1018Arg) n.11084A>G c.*10722A>G (n.*10722A>G) c.13418A>G (p.Lys4473Arg) c.13415A>G (p.Lys4472Arg) c.13253A>G (p.Lys4418Arg) c.13346A>G (p.Lys4449Arg) c.13250A>G (p.Lys4417Arg) c.13370A>G (p.Lys4457Arg) c.13298A>G (p.Lys4433Arg) c.13265A>G (p.Lys4422Arg) c.13181A>G (p.Lys4394Arg) c.12503A>G (p.Lys4168Arg) c.10964A>G (p.Lys3655Arg) c.13385A>G (p.Lys4462Arg) c.13367A>G (p.Lys4456Arg) c.13343A>G (p.Lys4448Arg) c.13271A>G (p.Lys4424Arg) c.13235A>G (p.Lys4412Arg) c.10088A>G (p.Lys3363Arg) c.9692A>G (p.Lys3231Arg) | |
7 | g.152148725T>G | CA370092845 | KMT2C | c.1390A>C n.2334A>C c.13373A>C (p.Lys4458Thr) n.2502A>C n.8394A>C c.3775A>C c.10712A>C (p.Lys3571Thr) n.4832A>C c.3847A>C n.1968A>C n.1918A>C c.1619A>C (p.Lys540Thr) c.8099A>C (p.Lys2700Thr) c.13202A>C (p.Lys4401Thr) c.8989A>C c.3844A>C c.3778A>C n.7913A>C c.8102A>C (p.Lys2701Thr) c.12767A>C (p.Lys4256Thr) c.3779A>C n.2217A>C c.5883A>C c.3053A>C (p.Lys1018Thr) n.11084A>C c.*10722A>C (n.*10722A>C) c.13418A>C (p.Lys4473Thr) c.13415A>C (p.Lys4472Thr) c.13253A>C (p.Lys4418Thr) c.13346A>C (p.Lys4449Thr) c.13250A>C (p.Lys4417Thr) c.13370A>C (p.Lys4457Thr) c.13298A>C (p.Lys4433Thr) c.13265A>C (p.Lys4422Thr) c.13181A>C (p.Lys4394Thr) c.12503A>C (p.Lys4168Thr) c.10964A>C (p.Lys3655Thr) c.13385A>C (p.Lys4462Thr) c.13367A>C (p.Lys4456Thr) c.13343A>C (p.Lys4448Thr) c.13271A>C (p.Lys4424Thr) c.13235A>C (p.Lys4412Thr) c.10088A>C (p.Lys3363Thr) c.9692A>C (p.Lys3231Thr) | |
7 | g.152148726T>A | CA370092847 | KMT2C | c.1389A>T n.2333A>T c.13372A>T (p.Lys4458Ter) n.2501A>T n.8393A>T c.3774A>T c.10711A>T (p.Lys3571Ter) n.4831A>T c.3846A>T n.1967A>T n.1917A>T c.1618A>T (p.Lys540Ter) c.8098A>T (p.Lys2700Ter) c.13201A>T (p.Lys4401Ter) c.8988A>T c.3843A>T c.3777A>T n.7912A>T c.8101A>T (p.Lys2701Ter) c.12766A>T (p.Lys4256Ter) c.3778A>T n.2216A>T c.5882A>T c.3052A>T (p.Lys1018Ter) n.11083A>T c.*10721A>T (n.*10721A>T) c.13417A>T (p.Lys4473Ter) c.13414A>T (p.Lys4472Ter) c.13252A>T (p.Lys4418Ter) c.13345A>T (p.Lys4449Ter) c.13249A>T (p.Lys4417Ter) c.13369A>T (p.Lys4457Ter) c.13297A>T (p.Lys4433Ter) c.13264A>T (p.Lys4422Ter) c.13180A>T (p.Lys4394Ter) c.12502A>T (p.Lys4168Ter) c.10963A>T (p.Lys3655Ter) c.13384A>T (p.Lys4462Ter) c.13366A>T (p.Lys4456Ter) c.13342A>T (p.Lys4448Ter) c.13270A>T (p.Lys4424Ter) c.13234A>T (p.Lys4412Ter) c.10087A>T (p.Lys3363Ter) c.9691A>T (p.Lys3231Ter) | |
7 | g.152148726T>C | CA370092849 | KMT2C | c.1389A>G n.2333A>G c.13372A>G (p.Lys4458Glu) n.2501A>G n.8393A>G c.3774A>G c.10711A>G (p.Lys3571Glu) n.4831A>G c.3846A>G n.1967A>G n.1917A>G c.1618A>G (p.Lys540Glu) c.8098A>G (p.Lys2700Glu) c.13201A>G (p.Lys4401Glu) c.8988A>G c.3843A>G c.3777A>G n.7912A>G c.8101A>G (p.Lys2701Glu) c.12766A>G (p.Lys4256Glu) c.3778A>G n.2216A>G c.5882A>G c.3052A>G (p.Lys1018Glu) n.11083A>G c.*10721A>G (n.*10721A>G) c.13417A>G (p.Lys4473Glu) c.13414A>G (p.Lys4472Glu) c.13252A>G (p.Lys4418Glu) c.13345A>G (p.Lys4449Glu) c.13249A>G (p.Lys4417Glu) c.13369A>G (p.Lys4457Glu) c.13297A>G (p.Lys4433Glu) c.13264A>G (p.Lys4422Glu) c.13180A>G (p.Lys4394Glu) c.12502A>G (p.Lys4168Glu) c.10963A>G (p.Lys3655Glu) c.13384A>G (p.Lys4462Glu) c.13366A>G (p.Lys4456Glu) c.13342A>G (p.Lys4448Glu) c.13270A>G (p.Lys4424Glu) c.13234A>G (p.Lys4412Glu) c.10087A>G (p.Lys3363Glu) c.9691A>G (p.Lys3231Glu) | |
7 | g.152148726T>G | CA370092850 | KMT2C | c.1389A>C n.2333A>C c.13372A>C (p.Lys4458Gln) n.2501A>C n.8393A>C c.3774A>C c.10711A>C (p.Lys3571Gln) n.4831A>C c.3846A>C n.1967A>C n.1917A>C c.1618A>C (p.Lys540Gln) c.8098A>C (p.Lys2700Gln) c.13201A>C (p.Lys4401Gln) c.8988A>C c.3843A>C c.3777A>C n.7912A>C c.8101A>C (p.Lys2701Gln) c.12766A>C (p.Lys4256Gln) c.3778A>C n.2216A>C c.5882A>C c.3052A>C (p.Lys1018Gln) n.11083A>C c.*10721A>C (n.*10721A>C) c.13417A>C (p.Lys4473Gln) c.13414A>C (p.Lys4472Gln) c.13252A>C (p.Lys4418Gln) c.13345A>C (p.Lys4449Gln) c.13249A>C (p.Lys4417Gln) c.13369A>C (p.Lys4457Gln) c.13297A>C (p.Lys4433Gln) c.13264A>C (p.Lys4422Gln) c.13180A>C (p.Lys4394Gln) c.12502A>C (p.Lys4168Gln) c.10963A>C (p.Lys3655Gln) c.13384A>C (p.Lys4462Gln) c.13366A>C (p.Lys4456Gln) c.13342A>C (p.Lys4448Gln) c.13270A>C (p.Lys4424Gln) c.13234A>C (p.Lys4412Gln) c.10087A>C (p.Lys3363Gln) c.9691A>C (p.Lys3231Gln) | |
7 | g.152148727C>A | CA458884627 | KMT2C | c.1388G>T n.2332G>T c.13371G>T (p.Arg4457=) n.2500G>T n.8392G>T c.3773G>T c.10710G>T (p.Arg3570=) n.4830G>T c.3845G>T n.1966G>T n.1916G>T c.1617G>T (p.Arg539=) c.8097G>T (p.Arg2699=) c.13200G>T (p.Arg4400=) c.8987G>T c.3842G>T c.3776G>T n.7911G>T c.8100G>T (p.Arg2700=) c.12765G>T (p.Arg4255=) c.3777G>T n.2215G>T c.5881G>T c.3051G>T (p.Arg1017=) n.11082G>T c.*10720G>T (n.*10720G>T) c.13416G>T (p.Arg4472=) c.13413G>T (p.Arg4471=) c.13251G>T (p.Arg4417=) c.13344G>T (p.Arg4448=) c.13248G>T (p.Arg4416=) c.13368G>T (p.Arg4456=) c.13296G>T (p.Arg4432=) c.13263G>T (p.Arg4421=) c.13179G>T (p.Arg4393=) c.12501G>T (p.Arg4167=) c.10962G>T (p.Arg3654=) c.13383G>T (p.Arg4461=) c.13365G>T (p.Arg4455=) c.13341G>T (p.Arg4447=) c.13269G>T (p.Arg4423=) c.13233G>T (p.Arg4411=) c.10086G>T (p.Arg3362=) c.9690G>T (p.Arg3230=) | |
7 | g.152148727C>G | CA458884626 | KMT2C | c.1388G>C n.2332G>C c.13371G>C (p.Arg4457=) n.2500G>C n.8392G>C c.3773G>C c.10710G>C (p.Arg3570=) n.4830G>C c.3845G>C n.1966G>C n.1916G>C c.1617G>C (p.Arg539=) c.8097G>C (p.Arg2699=) c.13200G>C (p.Arg4400=) c.8987G>C c.3842G>C c.3776G>C n.7911G>C c.8100G>C (p.Arg2700=) c.12765G>C (p.Arg4255=) c.3777G>C n.2215G>C c.5881G>C c.3051G>C (p.Arg1017=) n.11082G>C c.*10720G>C (n.*10720G>C) c.13416G>C (p.Arg4472=) c.13413G>C (p.Arg4471=) c.13251G>C (p.Arg4417=) c.13344G>C (p.Arg4448=) c.13248G>C (p.Arg4416=) c.13368G>C (p.Arg4456=) c.13296G>C (p.Arg4432=) c.13263G>C (p.Arg4421=) c.13179G>C (p.Arg4393=) c.12501G>C (p.Arg4167=) c.10962G>C (p.Arg3654=) c.13383G>C (p.Arg4461=) c.13365G>C (p.Arg4455=) c.13341G>C (p.Arg4447=) c.13269G>C (p.Arg4423=) c.13233G>C (p.Arg4411=) c.10086G>C (p.Arg3362=) c.9690G>C (p.Arg3230=) | dbSNP |
7 | g.152148727C>T | CA458884625 | KMT2C | c.1388G>A n.2332G>A c.13371G>A (p.Arg4457=) n.2500G>A n.8392G>A c.3773G>A c.10710G>A (p.Arg3570=) n.4830G>A c.3845G>A n.1966G>A n.1916G>A c.1617G>A (p.Arg539=) c.8097G>A (p.Arg2699=) c.13200G>A (p.Arg4400=) c.8987G>A c.3842G>A c.3776G>A n.7911G>A c.8100G>A (p.Arg2700=) c.12765G>A (p.Arg4255=) c.3777G>A n.2215G>A c.5881G>A c.3051G>A (p.Arg1017=) n.11082G>A c.*10720G>A (n.*10720G>A) c.13416G>A (p.Arg4472=) c.13413G>A (p.Arg4471=) c.13251G>A (p.Arg4417=) c.13344G>A (p.Arg4448=) c.13248G>A (p.Arg4416=) c.13368G>A (p.Arg4456=) c.13296G>A (p.Arg4432=) c.13263G>A (p.Arg4421=) c.13179G>A (p.Arg4393=) c.12501G>A (p.Arg4167=) c.10962G>A (p.Arg3654=) c.13383G>A (p.Arg4461=) c.13365G>A (p.Arg4455=) c.13341G>A (p.Arg4447=) c.13269G>A (p.Arg4423=) c.13233G>A (p.Arg4411=) c.10086G>A (p.Arg3362=) c.9690G>A (p.Arg3230=) | gnomAD v4 |
7 | g.152148728C>A | CA370092852 | KMT2C | c.1387G>T n.2331G>T c.13370G>T (p.Arg4457Leu) n.2499G>T n.8391G>T c.3772G>T c.10709G>T (p.Arg3570Leu) n.4829G>T c.3844G>T n.1965G>T n.1915G>T c.1616G>T (p.Arg539Leu) c.8096G>T (p.Arg2699Leu) c.13199G>T (p.Arg4400Leu) c.8986G>T c.3841G>T c.3775G>T n.7910G>T c.8099G>T (p.Arg2700Leu) c.12764G>T (p.Arg4255Leu) c.3776G>T n.2214G>T c.5880G>T c.3050G>T (p.Arg1017Leu) n.11081G>T c.*10719G>T (n.*10719G>T) c.13415G>T (p.Arg4472Leu) c.13412G>T (p.Arg4471Leu) c.13250G>T (p.Arg4417Leu) c.13343G>T (p.Arg4448Leu) c.13247G>T (p.Arg4416Leu) c.13367G>T (p.Arg4456Leu) c.13295G>T (p.Arg4432Leu) c.13262G>T (p.Arg4421Leu) c.13178G>T (p.Arg4393Leu) c.12500G>T (p.Arg4167Leu) c.10961G>T (p.Arg3654Leu) c.13382G>T (p.Arg4461Leu) c.13364G>T (p.Arg4455Leu) c.13340G>T (p.Arg4447Leu) c.13268G>T (p.Arg4423Leu) c.13232G>T (p.Arg4411Leu) c.10085G>T (p.Arg3362Leu) c.9689G>T (p.Arg3230Leu) | dbSNP |
7 | g.152148728C= | CA1752986198 | KMT2C | c.1387G= n.2331G= c.13370G= (p.Arg4457=) n.2499G= n.8391G= c.3772G= c.10709G= (p.Arg3570=) n.4829G= c.3844G= n.1965G= n.1915G= c.1616G= (p.Arg539=) c.8096G= (p.Arg2699=) c.13199G= (p.Arg4400=) c.8986G= c.3841G= c.3775G= n.7910G= c.8099G= (p.Arg2700=) c.12764G= (p.Arg4255=) c.3776G= n.2214G= c.5880G= c.3050G= (p.Arg1017=) n.11081G= c.*10719G= (n.*10719G=) c.13415G= (p.Arg4472=) c.13412G= (p.Arg4471=) c.13250G= (p.Arg4417=) c.13343G= (p.Arg4448=) c.13247G= (p.Arg4416=) c.13367G= (p.Arg4456=) c.13295G= (p.Arg4432=) c.13262G= (p.Arg4421=) c.13178G= (p.Arg4393=) c.12500G= (p.Arg4167=) c.10961G= (p.Arg3654=) c.13382G= (p.Arg4461=) c.13364G= (p.Arg4455=) c.13340G= (p.Arg4447=) c.13268G= (p.Arg4423=) c.13232G= (p.Arg4411=) c.10085G= (p.Arg3362=) c.9689G= (p.Arg3230=) | |
7 | g.152148728C>G | CA370092855 | KMT2C | c.1387G>C n.2331G>C c.13370G>C (p.Arg4457Pro) n.2499G>C n.8391G>C c.3772G>C c.10709G>C (p.Arg3570Pro) n.4829G>C c.3844G>C n.1965G>C n.1915G>C c.1616G>C (p.Arg539Pro) c.8096G>C (p.Arg2699Pro) c.13199G>C (p.Arg4400Pro) c.8986G>C c.3841G>C c.3775G>C n.7910G>C c.8099G>C (p.Arg2700Pro) c.12764G>C (p.Arg4255Pro) c.3776G>C n.2214G>C c.5880G>C c.3050G>C (p.Arg1017Pro) n.11081G>C c.*10719G>C (n.*10719G>C) c.13415G>C (p.Arg4472Pro) c.13412G>C (p.Arg4471Pro) c.13250G>C (p.Arg4417Pro) c.13343G>C (p.Arg4448Pro) c.13247G>C (p.Arg4416Pro) c.13367G>C (p.Arg4456Pro) c.13295G>C (p.Arg4432Pro) c.13262G>C (p.Arg4421Pro) c.13178G>C (p.Arg4393Pro) c.12500G>C (p.Arg4167Pro) c.10961G>C (p.Arg3654Pro) c.13382G>C (p.Arg4461Pro) c.13364G>C (p.Arg4455Pro) c.13340G>C (p.Arg4447Pro) c.13268G>C (p.Arg4423Pro) c.13232G>C (p.Arg4411Pro) c.10085G>C (p.Arg3362Pro) c.9689G>C (p.Arg3230Pro) | dbSNP |
7 | g.152148728C>T | CA370092854 | KMT2C | c.1387G>A n.2331G>A c.13370G>A (p.Arg4457Gln) n.2499G>A n.8391G>A c.3772G>A c.10709G>A (p.Arg3570Gln) n.4829G>A c.3844G>A n.1965G>A n.1915G>A c.1616G>A (p.Arg539Gln) c.8096G>A (p.Arg2699Gln) c.13199G>A (p.Arg4400Gln) c.8986G>A c.3841G>A c.3775G>A n.7910G>A c.8099G>A (p.Arg2700Gln) c.12764G>A (p.Arg4255Gln) c.3776G>A n.2214G>A c.5880G>A c.3050G>A (p.Arg1017Gln) n.11081G>A c.*10719G>A (n.*10719G>A) c.13415G>A (p.Arg4472Gln) c.13412G>A (p.Arg4471Gln) c.13250G>A (p.Arg4417Gln) c.13343G>A (p.Arg4448Gln) c.13247G>A (p.Arg4416Gln) c.13367G>A (p.Arg4456Gln) c.13295G>A (p.Arg4432Gln) c.13262G>A (p.Arg4421Gln) c.13178G>A (p.Arg4393Gln) c.12500G>A (p.Arg4167Gln) c.10961G>A (p.Arg3654Gln) c.13382G>A (p.Arg4461Gln) c.13364G>A (p.Arg4455Gln) c.13340G>A (p.Arg4447Gln) c.13268G>A (p.Arg4423Gln) c.13232G>A (p.Arg4411Gln) c.10085G>A (p.Arg3362Gln) c.9689G>A (p.Arg3230Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.152148729G>A | CA370092857 | KMT2C | c.1386C>T n.2330C>T c.13369C>T (p.Arg4457Trp) n.2498C>T n.8390C>T c.3771C>T c.10708C>T (p.Arg3570Trp) n.4828C>T c.3843C>T n.1964C>T n.1914C>T c.1615C>T (p.Arg539Trp) c.8095C>T (p.Arg2699Trp) c.13198C>T (p.Arg4400Trp) c.8985C>T c.3840C>T c.3774C>T n.7909C>T c.8098C>T (p.Arg2700Trp) c.12763C>T (p.Arg4255Trp) c.3775C>T n.2213C>T c.5879C>T c.3049C>T (p.Arg1017Trp) n.11080C>T c.*10718C>T (n.*10718C>T) c.13414C>T (p.Arg4472Trp) c.13411C>T (p.Arg4471Trp) c.13249C>T (p.Arg4417Trp) c.13342C>T (p.Arg4448Trp) c.13246C>T (p.Arg4416Trp) c.13366C>T (p.Arg4456Trp) c.13294C>T (p.Arg4432Trp) c.13261C>T (p.Arg4421Trp) c.13177C>T (p.Arg4393Trp) c.12499C>T (p.Arg4167Trp) c.10960C>T (p.Arg3654Trp) c.13381C>T (p.Arg4461Trp) c.13363C>T (p.Arg4455Trp) c.13339C>T (p.Arg4447Trp) c.13267C>T (p.Arg4423Trp) c.13231C>T (p.Arg4411Trp) c.10084C>T (p.Arg3362Trp) c.9688C>T (p.Arg3230Trp) | ClinVar dbSNP |
7 | g.152148729G>C | CA370092858 | KMT2C | c.1386C>G n.2330C>G c.13369C>G (p.Arg4457Gly) n.2498C>G n.8390C>G c.3771C>G c.10708C>G (p.Arg3570Gly) n.4828C>G c.3843C>G n.1964C>G n.1914C>G c.1615C>G (p.Arg539Gly) c.8095C>G (p.Arg2699Gly) c.13198C>G (p.Arg4400Gly) c.8985C>G c.3840C>G c.3774C>G n.7909C>G c.8098C>G (p.Arg2700Gly) c.12763C>G (p.Arg4255Gly) c.3775C>G n.2213C>G c.5879C>G c.3049C>G (p.Arg1017Gly) n.11080C>G c.*10718C>G (n.*10718C>G) c.13414C>G (p.Arg4472Gly) c.13411C>G (p.Arg4471Gly) c.13249C>G (p.Arg4417Gly) c.13342C>G (p.Arg4448Gly) c.13246C>G (p.Arg4416Gly) c.13366C>G (p.Arg4456Gly) c.13294C>G (p.Arg4432Gly) c.13261C>G (p.Arg4421Gly) c.13177C>G (p.Arg4393Gly) c.12499C>G (p.Arg4167Gly) c.10960C>G (p.Arg3654Gly) c.13381C>G (p.Arg4461Gly) c.13363C>G (p.Arg4455Gly) c.13339C>G (p.Arg4447Gly) c.13267C>G (p.Arg4423Gly) c.13231C>G (p.Arg4411Gly) c.10084C>G (p.Arg3362Gly) c.9688C>G (p.Arg3230Gly) | dbSNP |
7 | g.152148729G= | CA1752986201 | KMT2C | c.1386C= n.2330C= c.13369C= (p.Arg4457=) n.2498C= n.8390C= c.3771C= c.10708C= (p.Arg3570=) n.4828C= c.3843C= n.1964C= n.1914C= c.1615C= (p.Arg539=) c.8095C= (p.Arg2699=) c.13198C= (p.Arg4400=) c.8985C= c.3840C= c.3774C= n.7909C= c.8098C= (p.Arg2700=) c.12763C= (p.Arg4255=) c.3775C= n.2213C= c.5879C= c.3049C= (p.Arg1017=) n.11080C= c.*10718C= (n.*10718C=) c.13414C= (p.Arg4472=) c.13411C= (p.Arg4471=) c.13249C= (p.Arg4417=) c.13342C= (p.Arg4448=) c.13246C= (p.Arg4416=) c.13366C= (p.Arg4456=) c.13294C= (p.Arg4432=) c.13261C= (p.Arg4421=) c.13177C= (p.Arg4393=) c.12499C= (p.Arg4167=) c.10960C= (p.Arg3654=) c.13381C= (p.Arg4461=) c.13363C= (p.Arg4455=) c.13339C= (p.Arg4447=) c.13267C= (p.Arg4423=) c.13231C= (p.Arg4411=) c.10084C= (p.Arg3362=) c.9688C= (p.Arg3230=) | |
7 | g.152148729G>T | CA4578656 | KMT2C | c.1386C>A n.2330C>A c.13369C>A (p.Arg4457=) n.2498C>A n.8390C>A c.3771C>A c.10708C>A (p.Arg3570=) n.4828C>A c.3843C>A n.1964C>A n.1914C>A c.1615C>A (p.Arg539=) c.8095C>A (p.Arg2699=) c.13198C>A (p.Arg4400=) c.8985C>A c.3840C>A c.3774C>A n.7909C>A c.8098C>A (p.Arg2700=) c.12763C>A (p.Arg4255=) c.3775C>A n.2213C>A c.5879C>A c.3049C>A (p.Arg1017=) n.11080C>A c.*10718C>A (n.*10718C>A) c.13414C>A (p.Arg4472=) c.13411C>A (p.Arg4471=) c.13249C>A (p.Arg4417=) c.13342C>A (p.Arg4448=) c.13246C>A (p.Arg4416=) c.13366C>A (p.Arg4456=) c.13294C>A (p.Arg4432=) c.13261C>A (p.Arg4421=) c.13177C>A (p.Arg4393=) c.12499C>A (p.Arg4167=) c.10960C>A (p.Arg3654=) c.13381C>A (p.Arg4461=) c.13363C>A (p.Arg4455=) c.13339C>A (p.Arg4447=) c.13267C>A (p.Arg4423=) c.13231C>A (p.Arg4411=) c.10084C>A (p.Arg3362=) c.9688C>A (p.Arg3230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148730A>C | CA370092860 | KMT2C | c.1385T>G n.2329T>G c.13368T>G (p.Tyr4456Ter) n.2497T>G n.8389T>G c.3770T>G c.10707T>G (p.Tyr3569Ter) n.4827T>G c.3842T>G n.1963T>G n.1913T>G c.1614T>G (p.Tyr538Ter) c.8094T>G (p.Tyr2698Ter) c.13197T>G (p.Tyr4399Ter) c.8984T>G c.3839T>G c.3773T>G n.7908T>G c.8097T>G (p.Tyr2699Ter) c.12762T>G (p.Tyr4254Ter) c.3774T>G n.2212T>G c.5878T>G c.3048T>G (p.Tyr1016Ter) n.11079T>G c.*10717T>G (n.*10717T>G) c.13413T>G (p.Tyr4471Ter) c.13410T>G (p.Tyr4470Ter) c.13248T>G (p.Tyr4416Ter) c.13341T>G (p.Tyr4447Ter) c.13245T>G (p.Tyr4415Ter) c.13365T>G (p.Tyr4455Ter) c.13293T>G (p.Tyr4431Ter) c.13260T>G (p.Tyr4420Ter) c.13176T>G (p.Tyr4392Ter) c.12498T>G (p.Tyr4166Ter) c.10959T>G (p.Tyr3653Ter) c.13380T>G (p.Tyr4460Ter) c.13362T>G (p.Tyr4454Ter) c.13338T>G (p.Tyr4446Ter) c.13266T>G (p.Tyr4422Ter) c.13230T>G (p.Tyr4410Ter) c.10083T>G (p.Tyr3361Ter) c.9687T>G (p.Tyr3229Ter) | |
7 | g.152148730A>G | CA458884637 | KMT2C | c.1385T>C n.2329T>C c.13368T>C (p.Tyr4456=) n.2497T>C n.8389T>C c.3770T>C c.10707T>C (p.Tyr3569=) n.4827T>C c.3842T>C n.1963T>C n.1913T>C c.1614T>C (p.Tyr538=) c.8094T>C (p.Tyr2698=) c.13197T>C (p.Tyr4399=) c.8984T>C c.3839T>C c.3773T>C n.7908T>C c.8097T>C (p.Tyr2699=) c.12762T>C (p.Tyr4254=) c.3774T>C n.2212T>C c.5878T>C c.3048T>C (p.Tyr1016=) n.11079T>C c.*10717T>C (n.*10717T>C) c.13413T>C (p.Tyr4471=) c.13410T>C (p.Tyr4470=) c.13248T>C (p.Tyr4416=) c.13341T>C (p.Tyr4447=) c.13245T>C (p.Tyr4415=) c.13365T>C (p.Tyr4455=) c.13293T>C (p.Tyr4431=) c.13260T>C (p.Tyr4420=) c.13176T>C (p.Tyr4392=) c.12498T>C (p.Tyr4166=) c.10959T>C (p.Tyr3653=) c.13380T>C (p.Tyr4460=) c.13362T>C (p.Tyr4454=) c.13338T>C (p.Tyr4446=) c.13266T>C (p.Tyr4422=) c.13230T>C (p.Tyr4410=) c.10083T>C (p.Tyr3361=) c.9687T>C (p.Tyr3229=) | gnomAD v4 |
7 | g.152148730A>T | CA370092861 | KMT2C | c.1385T>A n.2329T>A c.13368T>A (p.Tyr4456Ter) n.2497T>A n.8389T>A c.3770T>A c.10707T>A (p.Tyr3569Ter) n.4827T>A c.3842T>A n.1963T>A n.1913T>A c.1614T>A (p.Tyr538Ter) c.8094T>A (p.Tyr2698Ter) c.13197T>A (p.Tyr4399Ter) c.8984T>A c.3839T>A c.3773T>A n.7908T>A c.8097T>A (p.Tyr2699Ter) c.12762T>A (p.Tyr4254Ter) c.3774T>A n.2212T>A c.5878T>A c.3048T>A (p.Tyr1016Ter) n.11079T>A c.*10717T>A (n.*10717T>A) c.13413T>A (p.Tyr4471Ter) c.13410T>A (p.Tyr4470Ter) c.13248T>A (p.Tyr4416Ter) c.13341T>A (p.Tyr4447Ter) c.13245T>A (p.Tyr4415Ter) c.13365T>A (p.Tyr4455Ter) c.13293T>A (p.Tyr4431Ter) c.13260T>A (p.Tyr4420Ter) c.13176T>A (p.Tyr4392Ter) c.12498T>A (p.Tyr4166Ter) c.10959T>A (p.Tyr3653Ter) c.13380T>A (p.Tyr4460Ter) c.13362T>A (p.Tyr4454Ter) c.13338T>A (p.Tyr4446Ter) c.13266T>A (p.Tyr4422Ter) c.13230T>A (p.Tyr4410Ter) c.10083T>A (p.Tyr3361Ter) c.9687T>A (p.Tyr3229Ter) | |
7 | g.152148731T>A | CA370092863 | KMT2C | c.1384A>T n.2328A>T c.13367A>T (p.Tyr4456Phe) n.2496A>T n.8388A>T c.3769A>T c.10706A>T (p.Tyr3569Phe) n.4826A>T c.3841A>T n.1962A>T n.1912A>T c.1613A>T (p.Tyr538Phe) c.8093A>T (p.Tyr2698Phe) c.13196A>T (p.Tyr4399Phe) c.8983A>T c.3838A>T c.3772A>T n.7907A>T c.8096A>T (p.Tyr2699Phe) c.12761A>T (p.Tyr4254Phe) c.3773A>T n.2211A>T c.5877A>T c.3047A>T (p.Tyr1016Phe) n.11078A>T c.*10716A>T (n.*10716A>T) c.13412A>T (p.Tyr4471Phe) c.13409A>T (p.Tyr4470Phe) c.13247A>T (p.Tyr4416Phe) c.13340A>T (p.Tyr4447Phe) c.13244A>T (p.Tyr4415Phe) c.13364A>T (p.Tyr4455Phe) c.13292A>T (p.Tyr4431Phe) c.13259A>T (p.Tyr4420Phe) c.13175A>T (p.Tyr4392Phe) c.12497A>T (p.Tyr4166Phe) c.10958A>T (p.Tyr3653Phe) c.13379A>T (p.Tyr4460Phe) c.13361A>T (p.Tyr4454Phe) c.13337A>T (p.Tyr4446Phe) c.13265A>T (p.Tyr4422Phe) c.13229A>T (p.Tyr4410Phe) c.10082A>T (p.Tyr3361Phe) c.9686A>T (p.Tyr3229Phe) | |
7 | g.152148731T>C | CA370092864 | KMT2C | c.1384A>G n.2328A>G c.13367A>G (p.Tyr4456Cys) n.2496A>G n.8388A>G c.3769A>G c.10706A>G (p.Tyr3569Cys) n.4826A>G c.3841A>G n.1962A>G n.1912A>G c.1613A>G (p.Tyr538Cys) c.8093A>G (p.Tyr2698Cys) c.13196A>G (p.Tyr4399Cys) c.8983A>G c.3838A>G c.3772A>G n.7907A>G c.8096A>G (p.Tyr2699Cys) c.12761A>G (p.Tyr4254Cys) c.3773A>G n.2211A>G c.5877A>G c.3047A>G (p.Tyr1016Cys) n.11078A>G c.*10716A>G (n.*10716A>G) c.13412A>G (p.Tyr4471Cys) c.13409A>G (p.Tyr4470Cys) c.13247A>G (p.Tyr4416Cys) c.13340A>G (p.Tyr4447Cys) c.13244A>G (p.Tyr4415Cys) c.13364A>G (p.Tyr4455Cys) c.13292A>G (p.Tyr4431Cys) c.13259A>G (p.Tyr4420Cys) c.13175A>G (p.Tyr4392Cys) c.12497A>G (p.Tyr4166Cys) c.10958A>G (p.Tyr3653Cys) c.13379A>G (p.Tyr4460Cys) c.13361A>G (p.Tyr4454Cys) c.13337A>G (p.Tyr4446Cys) c.13265A>G (p.Tyr4422Cys) c.13229A>G (p.Tyr4410Cys) c.10082A>G (p.Tyr3361Cys) c.9686A>G (p.Tyr3229Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148731T>G | CA370092866 | KMT2C | c.1384A>C n.2328A>C c.13367A>C (p.Tyr4456Ser) n.2496A>C n.8388A>C c.3769A>C c.10706A>C (p.Tyr3569Ser) n.4826A>C c.3841A>C n.1962A>C n.1912A>C c.1613A>C (p.Tyr538Ser) c.8093A>C (p.Tyr2698Ser) c.13196A>C (p.Tyr4399Ser) c.8983A>C c.3838A>C c.3772A>C n.7907A>C c.8096A>C (p.Tyr2699Ser) c.12761A>C (p.Tyr4254Ser) c.3773A>C n.2211A>C c.5877A>C c.3047A>C (p.Tyr1016Ser) n.11078A>C c.*10716A>C (n.*10716A>C) c.13412A>C (p.Tyr4471Ser) c.13409A>C (p.Tyr4470Ser) c.13247A>C (p.Tyr4416Ser) c.13340A>C (p.Tyr4447Ser) c.13244A>C (p.Tyr4415Ser) c.13364A>C (p.Tyr4455Ser) c.13292A>C (p.Tyr4431Ser) c.13259A>C (p.Tyr4420Ser) c.13175A>C (p.Tyr4392Ser) c.12497A>C (p.Tyr4166Ser) c.10958A>C (p.Tyr3653Ser) c.13379A>C (p.Tyr4460Ser) c.13361A>C (p.Tyr4454Ser) c.13337A>C (p.Tyr4446Ser) c.13265A>C (p.Tyr4422Ser) c.13229A>C (p.Tyr4410Ser) c.10082A>C (p.Tyr3361Ser) c.9686A>C (p.Tyr3229Ser) | |
7 | g.152148731T= | CA1752986205 | KMT2C | c.1384A= n.2328A= c.13367A= (p.Tyr4456=) n.2496A= n.8388A= c.3769A= c.10706A= (p.Tyr3569=) n.4826A= c.3841A= n.1962A= n.1912A= c.1613A= (p.Tyr538=) c.8093A= (p.Tyr2698=) c.13196A= (p.Tyr4399=) c.8983A= c.3838A= c.3772A= n.7907A= c.8096A= (p.Tyr2699=) c.12761A= (p.Tyr4254=) c.3773A= n.2211A= c.5877A= c.3047A= (p.Tyr1016=) n.11078A= c.*10716A= (n.*10716A=) c.13412A= (p.Tyr4471=) c.13409A= (p.Tyr4470=) c.13247A= (p.Tyr4416=) c.13340A= (p.Tyr4447=) c.13244A= (p.Tyr4415=) c.13364A= (p.Tyr4455=) c.13292A= (p.Tyr4431=) c.13259A= (p.Tyr4420=) c.13175A= (p.Tyr4392=) c.12497A= (p.Tyr4166=) c.10958A= (p.Tyr3653=) c.13379A= (p.Tyr4460=) c.13361A= (p.Tyr4454=) c.13337A= (p.Tyr4446=) c.13265A= (p.Tyr4422=) c.13229A= (p.Tyr4410=) c.10082A= (p.Tyr3361=) c.9686A= (p.Tyr3229=) | |
7 | g.152148732A>C | CA370092867 | KMT2C | c.1383T>G n.2327T>G c.13366T>G (p.Tyr4456Asp) n.2495T>G n.8387T>G c.3768T>G c.10705T>G (p.Tyr3569Asp) n.4825T>G c.3840T>G n.1961T>G n.1911T>G c.1612T>G (p.Tyr538Asp) c.8092T>G (p.Tyr2698Asp) c.13195T>G (p.Tyr4399Asp) c.8982T>G c.3837T>G c.3771T>G n.7906T>G c.8095T>G (p.Tyr2699Asp) c.12760T>G (p.Tyr4254Asp) c.3772T>G n.2210T>G c.5876T>G c.3046T>G (p.Tyr1016Asp) n.11077T>G c.*10715T>G (n.*10715T>G) c.13411T>G (p.Tyr4471Asp) c.13408T>G (p.Tyr4470Asp) c.13246T>G (p.Tyr4416Asp) c.13339T>G (p.Tyr4447Asp) c.13243T>G (p.Tyr4415Asp) c.13363T>G (p.Tyr4455Asp) c.13291T>G (p.Tyr4431Asp) c.13258T>G (p.Tyr4420Asp) c.13174T>G (p.Tyr4392Asp) c.12496T>G (p.Tyr4166Asp) c.10957T>G (p.Tyr3653Asp) c.13378T>G (p.Tyr4460Asp) c.13360T>G (p.Tyr4454Asp) c.13336T>G (p.Tyr4446Asp) c.13264T>G (p.Tyr4422Asp) c.13228T>G (p.Tyr4410Asp) c.10081T>G (p.Tyr3361Asp) c.9685T>G (p.Tyr3229Asp) | |
7 | g.152148732A>G | CA370092868 | KMT2C | c.1383T>C n.2327T>C c.13366T>C (p.Tyr4456His) n.2495T>C n.8387T>C c.3768T>C c.10705T>C (p.Tyr3569His) n.4825T>C c.3840T>C n.1961T>C n.1911T>C c.1612T>C (p.Tyr538His) c.8092T>C (p.Tyr2698His) c.13195T>C (p.Tyr4399His) c.8982T>C c.3837T>C c.3771T>C n.7906T>C c.8095T>C (p.Tyr2699His) c.12760T>C (p.Tyr4254His) c.3772T>C n.2210T>C c.5876T>C c.3046T>C (p.Tyr1016His) n.11077T>C c.*10715T>C (n.*10715T>C) c.13411T>C (p.Tyr4471His) c.13408T>C (p.Tyr4470His) c.13246T>C (p.Tyr4416His) c.13339T>C (p.Tyr4447His) c.13243T>C (p.Tyr4415His) c.13363T>C (p.Tyr4455His) c.13291T>C (p.Tyr4431His) c.13258T>C (p.Tyr4420His) c.13174T>C (p.Tyr4392His) c.12496T>C (p.Tyr4166His) c.10957T>C (p.Tyr3653His) c.13378T>C (p.Tyr4460His) c.13360T>C (p.Tyr4454His) c.13336T>C (p.Tyr4446His) c.13264T>C (p.Tyr4422His) c.13228T>C (p.Tyr4410His) c.10081T>C (p.Tyr3361His) c.9685T>C (p.Tyr3229His) | |
7 | g.152148732A>T | CA370092869 | KMT2C | c.1383T>A n.2327T>A c.13366T>A (p.Tyr4456Asn) n.2495T>A n.8387T>A c.3768T>A c.10705T>A (p.Tyr3569Asn) n.4825T>A c.3840T>A n.1961T>A n.1911T>A c.1612T>A (p.Tyr538Asn) c.8092T>A (p.Tyr2698Asn) c.13195T>A (p.Tyr4399Asn) c.8982T>A c.3837T>A c.3771T>A n.7906T>A c.8095T>A (p.Tyr2699Asn) c.12760T>A (p.Tyr4254Asn) c.3772T>A n.2210T>A c.5876T>A c.3046T>A (p.Tyr1016Asn) n.11077T>A c.*10715T>A (n.*10715T>A) c.13411T>A (p.Tyr4471Asn) c.13408T>A (p.Tyr4470Asn) c.13246T>A (p.Tyr4416Asn) c.13339T>A (p.Tyr4447Asn) c.13243T>A (p.Tyr4415Asn) c.13363T>A (p.Tyr4455Asn) c.13291T>A (p.Tyr4431Asn) c.13258T>A (p.Tyr4420Asn) c.13174T>A (p.Tyr4392Asn) c.12496T>A (p.Tyr4166Asn) c.10957T>A (p.Tyr3653Asn) c.13378T>A (p.Tyr4460Asn) c.13360T>A (p.Tyr4454Asn) c.13336T>A (p.Tyr4446Asn) c.13264T>A (p.Tyr4422Asn) c.13228T>A (p.Tyr4410Asn) c.10081T>A (p.Tyr3361Asn) c.9685T>A (p.Tyr3229Asn) | |
7 | g.152148733G>A | CA458884639 | KMT2C | c.1382C>T n.2326C>T c.13365C>T (p.Asp4455=) n.2494C>T n.8386C>T c.3767C>T c.10704C>T (p.Asp3568=) n.4824C>T c.3839C>T n.1960C>T n.1910C>T c.1611C>T (p.Asp537=) c.8091C>T (p.Asp2697=) c.13194C>T (p.Asp4398=) c.8981C>T c.3836C>T c.3770C>T n.7905C>T c.8094C>T (p.Asp2698=) c.12759C>T (p.Asp4253=) c.3771C>T n.2209C>T c.5875C>T c.3045C>T (p.Asp1015=) n.11076C>T c.*10714C>T (n.*10714C>T) c.13410C>T (p.Asp4470=) c.13407C>T (p.Asp4469=) c.13245C>T (p.Asp4415=) c.13338C>T (p.Asp4446=) c.13242C>T (p.Asp4414=) c.13362C>T (p.Asp4454=) c.13290C>T (p.Asp4430=) c.13257C>T (p.Asp4419=) c.13173C>T (p.Asp4391=) c.12495C>T (p.Asp4165=) c.10956C>T (p.Asp3652=) c.13377C>T (p.Asp4459=) c.13359C>T (p.Asp4453=) c.13335C>T (p.Asp4445=) c.13263C>T (p.Asp4421=) c.13227C>T (p.Asp4409=) c.10080C>T (p.Asp3360=) c.9684C>T (p.Asp3228=) | |
7 | g.152148733G>C | CA370092870 | KMT2C | c.1382C>G n.2326C>G c.13365C>G (p.Asp4455Glu) n.2494C>G n.8386C>G c.3767C>G c.10704C>G (p.Asp3568Glu) n.4824C>G c.3839C>G n.1960C>G n.1910C>G c.1611C>G (p.Asp537Glu) c.8091C>G (p.Asp2697Glu) c.13194C>G (p.Asp4398Glu) c.8981C>G c.3836C>G c.3770C>G n.7905C>G c.8094C>G (p.Asp2698Glu) c.12759C>G (p.Asp4253Glu) c.3771C>G n.2209C>G c.5875C>G c.3045C>G (p.Asp1015Glu) n.11076C>G c.*10714C>G (n.*10714C>G) c.13410C>G (p.Asp4470Glu) c.13407C>G (p.Asp4469Glu) c.13245C>G (p.Asp4415Glu) c.13338C>G (p.Asp4446Glu) c.13242C>G (p.Asp4414Glu) c.13362C>G (p.Asp4454Glu) c.13290C>G (p.Asp4430Glu) c.13257C>G (p.Asp4419Glu) c.13173C>G (p.Asp4391Glu) c.12495C>G (p.Asp4165Glu) c.10956C>G (p.Asp3652Glu) c.13377C>G (p.Asp4459Glu) c.13359C>G (p.Asp4453Glu) c.13335C>G (p.Asp4445Glu) c.13263C>G (p.Asp4421Glu) c.13227C>G (p.Asp4409Glu) c.10080C>G (p.Asp3360Glu) c.9684C>G (p.Asp3228Glu) | |
7 | g.152148733G>T | CA370092871 | KMT2C | c.1382C>A n.2326C>A c.13365C>A (p.Asp4455Glu) n.2494C>A n.8386C>A c.3767C>A c.10704C>A (p.Asp3568Glu) n.4824C>A c.3839C>A n.1960C>A n.1910C>A c.1611C>A (p.Asp537Glu) c.8091C>A (p.Asp2697Glu) c.13194C>A (p.Asp4398Glu) c.8981C>A c.3836C>A c.3770C>A n.7905C>A c.8094C>A (p.Asp2698Glu) c.12759C>A (p.Asp4253Glu) c.3771C>A n.2209C>A c.5875C>A c.3045C>A (p.Asp1015Glu) n.11076C>A c.*10714C>A (n.*10714C>A) c.13410C>A (p.Asp4470Glu) c.13407C>A (p.Asp4469Glu) c.13245C>A (p.Asp4415Glu) c.13338C>A (p.Asp4446Glu) c.13242C>A (p.Asp4414Glu) c.13362C>A (p.Asp4454Glu) c.13290C>A (p.Asp4430Glu) c.13257C>A (p.Asp4419Glu) c.13173C>A (p.Asp4391Glu) c.12495C>A (p.Asp4165Glu) c.10956C>A (p.Asp3652Glu) c.13377C>A (p.Asp4459Glu) c.13359C>A (p.Asp4453Glu) c.13335C>A (p.Asp4445Glu) c.13263C>A (p.Asp4421Glu) c.13227C>A (p.Asp4409Glu) c.10080C>A (p.Asp3360Glu) c.9684C>A (p.Asp3228Glu) | |
7 | g.152148734T>A | CA370092873 | KMT2C | c.1381A>T n.2325A>T c.13364A>T (p.Asp4455Val) n.2493A>T n.8385A>T c.3766A>T c.10703A>T (p.Asp3568Val) n.4823A>T c.3838A>T n.1959A>T n.1909A>T c.1610A>T (p.Asp537Val) c.8090A>T (p.Asp2697Val) c.13193A>T (p.Asp4398Val) c.8980A>T c.3835A>T c.3769A>T n.7904A>T c.8093A>T (p.Asp2698Val) c.12758A>T (p.Asp4253Val) c.3770A>T n.2208A>T c.5874A>T c.3044A>T (p.Asp1015Val) n.11075A>T c.*10713A>T (n.*10713A>T) c.13409A>T (p.Asp4470Val) c.13406A>T (p.Asp4469Val) c.13244A>T (p.Asp4415Val) c.13337A>T (p.Asp4446Val) c.13241A>T (p.Asp4414Val) c.13361A>T (p.Asp4454Val) c.13289A>T (p.Asp4430Val) c.13256A>T (p.Asp4419Val) c.13172A>T (p.Asp4391Val) c.12494A>T (p.Asp4165Val) c.10955A>T (p.Asp3652Val) c.13376A>T (p.Asp4459Val) c.13358A>T (p.Asp4453Val) c.13334A>T (p.Asp4445Val) c.13262A>T (p.Asp4421Val) c.13226A>T (p.Asp4409Val) c.10079A>T (p.Asp3360Val) c.9683A>T (p.Asp3228Val) | |
7 | g.152148734T>C | CA370092875 | KMT2C | c.1381A>G n.2325A>G c.13364A>G (p.Asp4455Gly) n.2493A>G n.8385A>G c.3766A>G c.10703A>G (p.Asp3568Gly) n.4823A>G c.3838A>G n.1959A>G n.1909A>G c.1610A>G (p.Asp537Gly) c.8090A>G (p.Asp2697Gly) c.13193A>G (p.Asp4398Gly) c.8980A>G c.3835A>G c.3769A>G n.7904A>G c.8093A>G (p.Asp2698Gly) c.12758A>G (p.Asp4253Gly) c.3770A>G n.2208A>G c.5874A>G c.3044A>G (p.Asp1015Gly) n.11075A>G c.*10713A>G (n.*10713A>G) c.13409A>G (p.Asp4470Gly) c.13406A>G (p.Asp4469Gly) c.13244A>G (p.Asp4415Gly) c.13337A>G (p.Asp4446Gly) c.13241A>G (p.Asp4414Gly) c.13361A>G (p.Asp4454Gly) c.13289A>G (p.Asp4430Gly) c.13256A>G (p.Asp4419Gly) c.13172A>G (p.Asp4391Gly) c.12494A>G (p.Asp4165Gly) c.10955A>G (p.Asp3652Gly) c.13376A>G (p.Asp4459Gly) c.13358A>G (p.Asp4453Gly) c.13334A>G (p.Asp4445Gly) c.13262A>G (p.Asp4421Gly) c.13226A>G (p.Asp4409Gly) c.10079A>G (p.Asp3360Gly) c.9683A>G (p.Asp3228Gly) | |
7 | g.152148734T>G | CA370092874 | KMT2C | c.1381A>C n.2325A>C c.13364A>C (p.Asp4455Ala) n.2493A>C n.8385A>C c.3766A>C c.10703A>C (p.Asp3568Ala) n.4823A>C c.3838A>C n.1959A>C n.1909A>C c.1610A>C (p.Asp537Ala) c.8090A>C (p.Asp2697Ala) c.13193A>C (p.Asp4398Ala) c.8980A>C c.3835A>C c.3769A>C n.7904A>C c.8093A>C (p.Asp2698Ala) c.12758A>C (p.Asp4253Ala) c.3770A>C n.2208A>C c.5874A>C c.3044A>C (p.Asp1015Ala) n.11075A>C c.*10713A>C (n.*10713A>C) c.13409A>C (p.Asp4470Ala) c.13406A>C (p.Asp4469Ala) c.13244A>C (p.Asp4415Ala) c.13337A>C (p.Asp4446Ala) c.13241A>C (p.Asp4414Ala) c.13361A>C (p.Asp4454Ala) c.13289A>C (p.Asp4430Ala) c.13256A>C (p.Asp4419Ala) c.13172A>C (p.Asp4391Ala) c.12494A>C (p.Asp4165Ala) c.10955A>C (p.Asp3652Ala) c.13376A>C (p.Asp4459Ala) c.13358A>C (p.Asp4453Ala) c.13334A>C (p.Asp4445Ala) c.13262A>C (p.Asp4421Ala) c.13226A>C (p.Asp4409Ala) c.10079A>C (p.Asp3360Ala) c.9683A>C (p.Asp3228Ala) | |
7 | g.152148735C>A | CA370092876 | KMT2C | c.1380G>T n.2324G>T c.13363G>T (p.Asp4455Tyr) n.2492G>T n.8384G>T c.3765G>T c.10702G>T (p.Asp3568Tyr) n.4822G>T c.3837G>T n.1958G>T n.1908G>T c.1609G>T (p.Asp537Tyr) c.8089G>T (p.Asp2697Tyr) c.13192G>T (p.Asp4398Tyr) c.8979G>T c.3834G>T c.3768G>T n.7903G>T c.8092G>T (p.Asp2698Tyr) c.12757G>T (p.Asp4253Tyr) c.3769G>T n.2207G>T c.5873G>T c.3043G>T (p.Asp1015Tyr) n.11074G>T c.*10712G>T (n.*10712G>T) c.13408G>T (p.Asp4470Tyr) c.13405G>T (p.Asp4469Tyr) c.13243G>T (p.Asp4415Tyr) c.13336G>T (p.Asp4446Tyr) c.13240G>T (p.Asp4414Tyr) c.13360G>T (p.Asp4454Tyr) c.13288G>T (p.Asp4430Tyr) c.13255G>T (p.Asp4419Tyr) c.13171G>T (p.Asp4391Tyr) c.12493G>T (p.Asp4165Tyr) c.10954G>T (p.Asp3652Tyr) c.13375G>T (p.Asp4459Tyr) c.13357G>T (p.Asp4453Tyr) c.13333G>T (p.Asp4445Tyr) c.13261G>T (p.Asp4421Tyr) c.13225G>T (p.Asp4409Tyr) c.10078G>T (p.Asp3360Tyr) c.9682G>T (p.Asp3228Tyr) | |
7 | g.152148735C>G | CA370092877 | KMT2C | c.1380G>C n.2324G>C c.13363G>C (p.Asp4455His) n.2492G>C n.8384G>C c.3765G>C c.10702G>C (p.Asp3568His) n.4822G>C c.3837G>C n.1958G>C n.1908G>C c.1609G>C (p.Asp537His) c.8089G>C (p.Asp2697His) c.13192G>C (p.Asp4398His) c.8979G>C c.3834G>C c.3768G>C n.7903G>C c.8092G>C (p.Asp2698His) c.12757G>C (p.Asp4253His) c.3769G>C n.2207G>C c.5873G>C c.3043G>C (p.Asp1015His) n.11074G>C c.*10712G>C (n.*10712G>C) c.13408G>C (p.Asp4470His) c.13405G>C (p.Asp4469His) c.13243G>C (p.Asp4415His) c.13336G>C (p.Asp4446His) c.13240G>C (p.Asp4414His) c.13360G>C (p.Asp4454His) c.13288G>C (p.Asp4430His) c.13255G>C (p.Asp4419His) c.13171G>C (p.Asp4391His) c.12493G>C (p.Asp4165His) c.10954G>C (p.Asp3652His) c.13375G>C (p.Asp4459His) c.13357G>C (p.Asp4453His) c.13333G>C (p.Asp4445His) c.13261G>C (p.Asp4421His) c.13225G>C (p.Asp4409His) c.10078G>C (p.Asp3360His) c.9682G>C (p.Asp3228His) | |
7 | g.152148735C>T | CA370092878 | KMT2C | c.1380G>A n.2324G>A c.13363G>A (p.Asp4455Asn) n.2492G>A n.8384G>A c.3765G>A c.10702G>A (p.Asp3568Asn) n.4822G>A c.3837G>A n.1958G>A n.1908G>A c.1609G>A (p.Asp537Asn) c.8089G>A (p.Asp2697Asn) c.13192G>A (p.Asp4398Asn) c.8979G>A c.3834G>A c.3768G>A n.7903G>A c.8092G>A (p.Asp2698Asn) c.12757G>A (p.Asp4253Asn) c.3769G>A n.2207G>A c.5873G>A c.3043G>A (p.Asp1015Asn) n.11074G>A c.*10712G>A (n.*10712G>A) c.13408G>A (p.Asp4470Asn) c.13405G>A (p.Asp4469Asn) c.13243G>A (p.Asp4415Asn) c.13336G>A (p.Asp4446Asn) c.13240G>A (p.Asp4414Asn) c.13360G>A (p.Asp4454Asn) c.13288G>A (p.Asp4430Asn) c.13255G>A (p.Asp4419Asn) c.13171G>A (p.Asp4391Asn) c.12493G>A (p.Asp4165Asn) c.10954G>A (p.Asp3652Asn) c.13375G>A (p.Asp4459Asn) c.13357G>A (p.Asp4453Asn) c.13333G>A (p.Asp4445Asn) c.13261G>A (p.Asp4421Asn) c.13225G>A (p.Asp4409Asn) c.10078G>A (p.Asp3360Asn) c.9682G>A (p.Asp3228Asn) | |
7 | g.152148736T>A | CA370092879 | KMT2C | c.1379A>T n.2323A>T c.13362A>T (p.Lys4454Asn) n.2491A>T n.8383A>T c.3764A>T c.10701A>T (p.Lys3567Asn) n.4821A>T c.3836A>T n.1957A>T n.1907A>T c.1608A>T (p.Lys536Asn) c.8088A>T (p.Lys2696Asn) c.13191A>T (p.Lys4397Asn) c.8978A>T c.3833A>T c.3767A>T n.7902A>T c.8091A>T (p.Lys2697Asn) c.12756A>T (p.Lys4252Asn) c.3768A>T n.2206A>T c.5872A>T c.3042A>T (p.Lys1014Asn) n.11073A>T c.*10711A>T (n.*10711A>T) c.13407A>T (p.Lys4469Asn) c.13404A>T (p.Lys4468Asn) c.13242A>T (p.Lys4414Asn) c.13335A>T (p.Lys4445Asn) c.13239A>T (p.Lys4413Asn) c.13359A>T (p.Lys4453Asn) c.13287A>T (p.Lys4429Asn) c.13254A>T (p.Lys4418Asn) c.13170A>T (p.Lys4390Asn) c.12492A>T (p.Lys4164Asn) c.10953A>T (p.Lys3651Asn) c.13374A>T (p.Lys4458Asn) c.13356A>T (p.Lys4452Asn) c.13332A>T (p.Lys4444Asn) c.13260A>T (p.Lys4420Asn) c.13224A>T (p.Lys4408Asn) c.10077A>T (p.Lys3359Asn) c.9681A>T (p.Lys3227Asn) | |
7 | g.152148736T>C | CA458884645 | KMT2C | c.1379A>G n.2323A>G c.13362A>G (p.Lys4454=) n.2491A>G n.8383A>G c.3764A>G c.10701A>G (p.Lys3567=) n.4821A>G c.3836A>G n.1957A>G n.1907A>G c.1608A>G (p.Lys536=) c.8088A>G (p.Lys2696=) c.13191A>G (p.Lys4397=) c.8978A>G c.3833A>G c.3767A>G n.7902A>G c.8091A>G (p.Lys2697=) c.12756A>G (p.Lys4252=) c.3768A>G n.2206A>G c.5872A>G c.3042A>G (p.Lys1014=) n.11073A>G c.*10711A>G (n.*10711A>G) c.13407A>G (p.Lys4469=) c.13404A>G (p.Lys4468=) c.13242A>G (p.Lys4414=) c.13335A>G (p.Lys4445=) c.13239A>G (p.Lys4413=) c.13359A>G (p.Lys4453=) c.13287A>G (p.Lys4429=) c.13254A>G (p.Lys4418=) c.13170A>G (p.Lys4390=) c.12492A>G (p.Lys4164=) c.10953A>G (p.Lys3651=) c.13374A>G (p.Lys4458=) c.13356A>G (p.Lys4452=) c.13332A>G (p.Lys4444=) c.13260A>G (p.Lys4420=) c.13224A>G (p.Lys4408=) c.10077A>G (p.Lys3359=) c.9681A>G (p.Lys3227=) | |
7 | g.152148736T>G | CA370092880 | KMT2C | c.1379A>C n.2323A>C c.13362A>C (p.Lys4454Asn) n.2491A>C n.8383A>C c.3764A>C c.10701A>C (p.Lys3567Asn) n.4821A>C c.3836A>C n.1957A>C n.1907A>C c.1608A>C (p.Lys536Asn) c.8088A>C (p.Lys2696Asn) c.13191A>C (p.Lys4397Asn) c.8978A>C c.3833A>C c.3767A>C n.7902A>C c.8091A>C (p.Lys2697Asn) c.12756A>C (p.Lys4252Asn) c.3768A>C n.2206A>C c.5872A>C c.3042A>C (p.Lys1014Asn) n.11073A>C c.*10711A>C (n.*10711A>C) c.13407A>C (p.Lys4469Asn) c.13404A>C (p.Lys4468Asn) c.13242A>C (p.Lys4414Asn) c.13335A>C (p.Lys4445Asn) c.13239A>C (p.Lys4413Asn) c.13359A>C (p.Lys4453Asn) c.13287A>C (p.Lys4429Asn) c.13254A>C (p.Lys4418Asn) c.13170A>C (p.Lys4390Asn) c.12492A>C (p.Lys4164Asn) c.10953A>C (p.Lys3651Asn) c.13374A>C (p.Lys4458Asn) c.13356A>C (p.Lys4452Asn) c.13332A>C (p.Lys4444Asn) c.13260A>C (p.Lys4420Asn) c.13224A>C (p.Lys4408Asn) c.10077A>C (p.Lys3359Asn) c.9681A>C (p.Lys3227Asn) | |
7 | g.152148737T>A | CA370092882 | KMT2C | c.1378A>T n.2322A>T c.13361A>T (p.Lys4454Ile) n.2490A>T n.8382A>T c.3763A>T c.10700A>T (p.Lys3567Ile) n.4820A>T c.3835A>T n.1956A>T n.1906A>T c.1607A>T (p.Lys536Ile) c.8087A>T (p.Lys2696Ile) c.13190A>T (p.Lys4397Ile) c.8977A>T c.3832A>T c.3766A>T n.7901A>T c.8090A>T (p.Lys2697Ile) c.12755A>T (p.Lys4252Ile) c.3767A>T n.2205A>T c.5871A>T c.3041A>T (p.Lys1014Ile) n.11072A>T c.*10710A>T (n.*10710A>T) c.13406A>T (p.Lys4469Ile) c.13403A>T (p.Lys4468Ile) c.13241A>T (p.Lys4414Ile) c.13334A>T (p.Lys4445Ile) c.13238A>T (p.Lys4413Ile) c.13358A>T (p.Lys4453Ile) c.13286A>T (p.Lys4429Ile) c.13253A>T (p.Lys4418Ile) c.13169A>T (p.Lys4390Ile) c.12491A>T (p.Lys4164Ile) c.10952A>T (p.Lys3651Ile) c.13373A>T (p.Lys4458Ile) c.13355A>T (p.Lys4452Ile) c.13331A>T (p.Lys4444Ile) c.13259A>T (p.Lys4420Ile) c.13223A>T (p.Lys4408Ile) c.10076A>T (p.Lys3359Ile) c.9680A>T (p.Lys3227Ile) | |
7 | g.152148737T>C | CA370092883 | KMT2C | c.1378A>G n.2322A>G c.13361A>G (p.Lys4454Arg) n.2490A>G n.8382A>G c.3763A>G c.10700A>G (p.Lys3567Arg) n.4820A>G c.3835A>G n.1956A>G n.1906A>G c.1607A>G (p.Lys536Arg) c.8087A>G (p.Lys2696Arg) c.13190A>G (p.Lys4397Arg) c.8977A>G c.3832A>G c.3766A>G n.7901A>G c.8090A>G (p.Lys2697Arg) c.12755A>G (p.Lys4252Arg) c.3767A>G n.2205A>G c.5871A>G c.3041A>G (p.Lys1014Arg) n.11072A>G c.*10710A>G (n.*10710A>G) c.13406A>G (p.Lys4469Arg) c.13403A>G (p.Lys4468Arg) c.13241A>G (p.Lys4414Arg) c.13334A>G (p.Lys4445Arg) c.13238A>G (p.Lys4413Arg) c.13358A>G (p.Lys4453Arg) c.13286A>G (p.Lys4429Arg) c.13253A>G (p.Lys4418Arg) c.13169A>G (p.Lys4390Arg) c.12491A>G (p.Lys4164Arg) c.10952A>G (p.Lys3651Arg) c.13373A>G (p.Lys4458Arg) c.13355A>G (p.Lys4452Arg) c.13331A>G (p.Lys4444Arg) c.13259A>G (p.Lys4420Arg) c.13223A>G (p.Lys4408Arg) c.10076A>G (p.Lys3359Arg) c.9680A>G (p.Lys3227Arg) | |
7 | g.152148737T>G | CA370092884 | KMT2C | c.1378A>C n.2322A>C c.13361A>C (p.Lys4454Thr) n.2490A>C n.8382A>C c.3763A>C c.10700A>C (p.Lys3567Thr) n.4820A>C c.3835A>C n.1956A>C n.1906A>C c.1607A>C (p.Lys536Thr) c.8087A>C (p.Lys2696Thr) c.13190A>C (p.Lys4397Thr) c.8977A>C c.3832A>C c.3766A>C n.7901A>C c.8090A>C (p.Lys2697Thr) c.12755A>C (p.Lys4252Thr) c.3767A>C n.2205A>C c.5871A>C c.3041A>C (p.Lys1014Thr) n.11072A>C c.*10710A>C (n.*10710A>C) c.13406A>C (p.Lys4469Thr) c.13403A>C (p.Lys4468Thr) c.13241A>C (p.Lys4414Thr) c.13334A>C (p.Lys4445Thr) c.13238A>C (p.Lys4413Thr) c.13358A>C (p.Lys4453Thr) c.13286A>C (p.Lys4429Thr) c.13253A>C (p.Lys4418Thr) c.13169A>C (p.Lys4390Thr) c.12491A>C (p.Lys4164Thr) c.10952A>C (p.Lys3651Thr) c.13373A>C (p.Lys4458Thr) c.13355A>C (p.Lys4452Thr) c.13331A>C (p.Lys4444Thr) c.13259A>C (p.Lys4420Thr) c.13223A>C (p.Lys4408Thr) c.10076A>C (p.Lys3359Thr) c.9680A>C (p.Lys3227Thr) | |
7 | g.152148738T>A | CA370092886 | KMT2C | c.1377A>T n.2321A>T c.13360A>T (p.Lys4454Ter) n.2489A>T n.8381A>T c.3762A>T c.10699A>T (p.Lys3567Ter) n.4819A>T c.3834A>T n.1955A>T n.1905A>T c.1606A>T (p.Lys536Ter) c.8086A>T (p.Lys2696Ter) c.13189A>T (p.Lys4397Ter) c.8976A>T c.3831A>T c.3765A>T n.7900A>T c.8089A>T (p.Lys2697Ter) c.12754A>T (p.Lys4252Ter) c.3766A>T n.2204A>T c.5870A>T c.3040A>T (p.Lys1014Ter) n.11071A>T c.*10709A>T (n.*10709A>T) c.13405A>T (p.Lys4469Ter) c.13402A>T (p.Lys4468Ter) c.13240A>T (p.Lys4414Ter) c.13333A>T (p.Lys4445Ter) c.13237A>T (p.Lys4413Ter) c.13357A>T (p.Lys4453Ter) c.13285A>T (p.Lys4429Ter) c.13252A>T (p.Lys4418Ter) c.13168A>T (p.Lys4390Ter) c.12490A>T (p.Lys4164Ter) c.10951A>T (p.Lys3651Ter) c.13372A>T (p.Lys4458Ter) c.13354A>T (p.Lys4452Ter) c.13330A>T (p.Lys4444Ter) c.13258A>T (p.Lys4420Ter) c.13222A>T (p.Lys4408Ter) c.10075A>T (p.Lys3359Ter) c.9679A>T (p.Lys3227Ter) | |
7 | g.152148738T>C | CA370092888 | KMT2C | c.1377A>G n.2321A>G c.13360A>G (p.Lys4454Glu) n.2489A>G n.8381A>G c.3762A>G c.10699A>G (p.Lys3567Glu) n.4819A>G c.3834A>G n.1955A>G n.1905A>G c.1606A>G (p.Lys536Glu) c.8086A>G (p.Lys2696Glu) c.13189A>G (p.Lys4397Glu) c.8976A>G c.3831A>G c.3765A>G n.7900A>G c.8089A>G (p.Lys2697Glu) c.12754A>G (p.Lys4252Glu) c.3766A>G n.2204A>G c.5870A>G c.3040A>G (p.Lys1014Glu) n.11071A>G c.*10709A>G (n.*10709A>G) c.13405A>G (p.Lys4469Glu) c.13402A>G (p.Lys4468Glu) c.13240A>G (p.Lys4414Glu) c.13333A>G (p.Lys4445Glu) c.13237A>G (p.Lys4413Glu) c.13357A>G (p.Lys4453Glu) c.13285A>G (p.Lys4429Glu) c.13252A>G (p.Lys4418Glu) c.13168A>G (p.Lys4390Glu) c.12490A>G (p.Lys4164Glu) c.10951A>G (p.Lys3651Glu) c.13372A>G (p.Lys4458Glu) c.13354A>G (p.Lys4452Glu) c.13330A>G (p.Lys4444Glu) c.13258A>G (p.Lys4420Glu) c.13222A>G (p.Lys4408Glu) c.10075A>G (p.Lys3359Glu) c.9679A>G (p.Lys3227Glu) | |
7 | g.152148738T>G | CA370092889 | KMT2C | c.1377A>C n.2321A>C c.13360A>C (p.Lys4454Gln) n.2489A>C n.8381A>C c.3762A>C c.10699A>C (p.Lys3567Gln) n.4819A>C c.3834A>C n.1955A>C n.1905A>C c.1606A>C (p.Lys536Gln) c.8086A>C (p.Lys2696Gln) c.13189A>C (p.Lys4397Gln) c.8976A>C c.3831A>C c.3765A>C n.7900A>C c.8089A>C (p.Lys2697Gln) c.12754A>C (p.Lys4252Gln) c.3766A>C n.2204A>C c.5870A>C c.3040A>C (p.Lys1014Gln) n.11071A>C c.*10709A>C (n.*10709A>C) c.13405A>C (p.Lys4469Gln) c.13402A>C (p.Lys4468Gln) c.13240A>C (p.Lys4414Gln) c.13333A>C (p.Lys4445Gln) c.13237A>C (p.Lys4413Gln) c.13357A>C (p.Lys4453Gln) c.13285A>C (p.Lys4429Gln) c.13252A>C (p.Lys4418Gln) c.13168A>C (p.Lys4390Gln) c.12490A>C (p.Lys4164Gln) c.10951A>C (p.Lys3651Gln) c.13372A>C (p.Lys4458Gln) c.13354A>C (p.Lys4452Gln) c.13330A>C (p.Lys4444Gln) c.13258A>C (p.Lys4420Gln) c.13222A>C (p.Lys4408Gln) c.10075A>C (p.Lys3359Gln) c.9679A>C (p.Lys3227Gln) | |
7 | g.152148739G>A | CA458884647 | KMT2C | c.1376C>T n.2320C>T c.13359C>T (p.Pro4453=) n.2488C>T n.8380C>T c.3761C>T c.10698C>T (p.Pro3566=) n.4818C>T c.3833C>T n.1954C>T n.1904C>T c.1605C>T (p.Pro535=) c.8085C>T (p.Pro2695=) c.13188C>T (p.Pro4396=) c.8975C>T c.3830C>T c.3764C>T n.7899C>T c.8088C>T (p.Pro2696=) c.12753C>T (p.Pro4251=) c.3765C>T n.2203C>T c.5869C>T c.3039C>T (p.Pro1013=) n.11070C>T c.*10708C>T (n.*10708C>T) c.13404C>T (p.Pro4468=) c.13401C>T (p.Pro4467=) c.13239C>T (p.Pro4413=) c.13332C>T (p.Pro4444=) c.13236C>T (p.Pro4412=) c.13356C>T (p.Pro4452=) c.13284C>T (p.Pro4428=) c.13251C>T (p.Pro4417=) c.13167C>T (p.Pro4389=) c.12489C>T (p.Pro4163=) c.10950C>T (p.Pro3650=) c.13371C>T (p.Pro4457=) c.13353C>T (p.Pro4451=) c.13329C>T (p.Pro4443=) c.13257C>T (p.Pro4419=) c.13221C>T (p.Pro4407=) c.10074C>T (p.Pro3358=) c.9678C>T (p.Pro3226=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148739G>C | CA458884648 | KMT2C | c.1376C>G n.2320C>G c.13359C>G (p.Pro4453=) n.2488C>G n.8380C>G c.3761C>G c.10698C>G (p.Pro3566=) n.4818C>G c.3833C>G n.1954C>G n.1904C>G c.1605C>G (p.Pro535=) c.8085C>G (p.Pro2695=) c.13188C>G (p.Pro4396=) c.8975C>G c.3830C>G c.3764C>G n.7899C>G c.8088C>G (p.Pro2696=) c.12753C>G (p.Pro4251=) c.3765C>G n.2203C>G c.5869C>G c.3039C>G (p.Pro1013=) n.11070C>G c.*10708C>G (n.*10708C>G) c.13404C>G (p.Pro4468=) c.13401C>G (p.Pro4467=) c.13239C>G (p.Pro4413=) c.13332C>G (p.Pro4444=) c.13236C>G (p.Pro4412=) c.13356C>G (p.Pro4452=) c.13284C>G (p.Pro4428=) c.13251C>G (p.Pro4417=) c.13167C>G (p.Pro4389=) c.12489C>G (p.Pro4163=) c.10950C>G (p.Pro3650=) c.13371C>G (p.Pro4457=) c.13353C>G (p.Pro4451=) c.13329C>G (p.Pro4443=) c.13257C>G (p.Pro4419=) c.13221C>G (p.Pro4407=) c.10074C>G (p.Pro3358=) c.9678C>G (p.Pro3226=) | |
7 | g.152148739G= | CA1752986212 | KMT2C | c.1376C= n.2320C= c.13359C= (p.Pro4453=) n.2488C= n.8380C= c.3761C= c.10698C= (p.Pro3566=) n.4818C= c.3833C= n.1954C= n.1904C= c.1605C= (p.Pro535=) c.8085C= (p.Pro2695=) c.13188C= (p.Pro4396=) c.8975C= c.3830C= c.3764C= n.7899C= c.8088C= (p.Pro2696=) c.12753C= (p.Pro4251=) c.3765C= n.2203C= c.5869C= c.3039C= (p.Pro1013=) n.11070C= c.*10708C= (n.*10708C=) c.13404C= (p.Pro4468=) c.13401C= (p.Pro4467=) c.13239C= (p.Pro4413=) c.13332C= (p.Pro4444=) c.13236C= (p.Pro4412=) c.13356C= (p.Pro4452=) c.13284C= (p.Pro4428=) c.13251C= (p.Pro4417=) c.13167C= (p.Pro4389=) c.12489C= (p.Pro4163=) c.10950C= (p.Pro3650=) c.13371C= (p.Pro4457=) c.13353C= (p.Pro4451=) c.13329C= (p.Pro4443=) c.13257C= (p.Pro4419=) c.13221C= (p.Pro4407=) c.10074C= (p.Pro3358=) c.9678C= (p.Pro3226=) | |
7 | g.152148739G>T | CA458884649 | KMT2C | c.1376C>A n.2320C>A c.13359C>A (p.Pro4453=) n.2488C>A n.8380C>A c.3761C>A c.10698C>A (p.Pro3566=) n.4818C>A c.3833C>A n.1954C>A n.1904C>A c.1605C>A (p.Pro535=) c.8085C>A (p.Pro2695=) c.13188C>A (p.Pro4396=) c.8975C>A c.3830C>A c.3764C>A n.7899C>A c.8088C>A (p.Pro2696=) c.12753C>A (p.Pro4251=) c.3765C>A n.2203C>A c.5869C>A c.3039C>A (p.Pro1013=) n.11070C>A c.*10708C>A (n.*10708C>A) c.13404C>A (p.Pro4468=) c.13401C>A (p.Pro4467=) c.13239C>A (p.Pro4413=) c.13332C>A (p.Pro4444=) c.13236C>A (p.Pro4412=) c.13356C>A (p.Pro4452=) c.13284C>A (p.Pro4428=) c.13251C>A (p.Pro4417=) c.13167C>A (p.Pro4389=) c.12489C>A (p.Pro4163=) c.10950C>A (p.Pro3650=) c.13371C>A (p.Pro4457=) c.13353C>A (p.Pro4451=) c.13329C>A (p.Pro4443=) c.13257C>A (p.Pro4419=) c.13221C>A (p.Pro4407=) c.10074C>A (p.Pro3358=) c.9678C>A (p.Pro3226=) | |
7 | g.152148740G>A | CA370092894 | KMT2C | c.1375C>T n.2319C>T c.13358C>T (p.Pro4453Leu) n.2487C>T n.8379C>T c.3760C>T c.10697C>T (p.Pro3566Leu) n.4817C>T c.3832C>T n.1953C>T n.1903C>T c.1604C>T (p.Pro535Leu) c.8084C>T (p.Pro2695Leu) c.13187C>T (p.Pro4396Leu) c.8974C>T c.3829C>T c.3763C>T n.7898C>T c.8087C>T (p.Pro2696Leu) c.12752C>T (p.Pro4251Leu) c.3764C>T n.2202C>T c.5868C>T c.3038C>T (p.Pro1013Leu) n.11069C>T c.*10707C>T (n.*10707C>T) c.13403C>T (p.Pro4468Leu) c.13400C>T (p.Pro4467Leu) c.13238C>T (p.Pro4413Leu) c.13331C>T (p.Pro4444Leu) c.13235C>T (p.Pro4412Leu) c.13355C>T (p.Pro4452Leu) c.13283C>T (p.Pro4428Leu) c.13250C>T (p.Pro4417Leu) c.13166C>T (p.Pro4389Leu) c.12488C>T (p.Pro4163Leu) c.10949C>T (p.Pro3650Leu) c.13370C>T (p.Pro4457Leu) c.13352C>T (p.Pro4451Leu) c.13328C>T (p.Pro4443Leu) c.13256C>T (p.Pro4419Leu) c.13220C>T (p.Pro4407Leu) c.10073C>T (p.Pro3358Leu) c.9677C>T (p.Pro3226Leu) | ClinVar dbSNP |
7 | g.152148740G>C | CA370092892 | KMT2C | c.1375C>G n.2319C>G c.13358C>G (p.Pro4453Arg) n.2487C>G n.8379C>G c.3760C>G c.10697C>G (p.Pro3566Arg) n.4817C>G c.3832C>G n.1953C>G n.1903C>G c.1604C>G (p.Pro535Arg) c.8084C>G (p.Pro2695Arg) c.13187C>G (p.Pro4396Arg) c.8974C>G c.3829C>G c.3763C>G n.7898C>G c.8087C>G (p.Pro2696Arg) c.12752C>G (p.Pro4251Arg) c.3764C>G n.2202C>G c.5868C>G c.3038C>G (p.Pro1013Arg) n.11069C>G c.*10707C>G (n.*10707C>G) c.13403C>G (p.Pro4468Arg) c.13400C>G (p.Pro4467Arg) c.13238C>G (p.Pro4413Arg) c.13331C>G (p.Pro4444Arg) c.13235C>G (p.Pro4412Arg) c.13355C>G (p.Pro4452Arg) c.13283C>G (p.Pro4428Arg) c.13250C>G (p.Pro4417Arg) c.13166C>G (p.Pro4389Arg) c.12488C>G (p.Pro4163Arg) c.10949C>G (p.Pro3650Arg) c.13370C>G (p.Pro4457Arg) c.13352C>G (p.Pro4451Arg) c.13328C>G (p.Pro4443Arg) c.13256C>G (p.Pro4419Arg) c.13220C>G (p.Pro4407Arg) c.10073C>G (p.Pro3358Arg) c.9677C>G (p.Pro3226Arg) | |
7 | g.152148740G= | CA1752986219 | KMT2C | c.1375C= n.2319C= c.13358C= (p.Pro4453=) n.2487C= n.8379C= c.3760C= c.10697C= (p.Pro3566=) n.4817C= c.3832C= n.1953C= n.1903C= c.1604C= (p.Pro535=) c.8084C= (p.Pro2695=) c.13187C= (p.Pro4396=) c.8974C= c.3829C= c.3763C= n.7898C= c.8087C= (p.Pro2696=) c.12752C= (p.Pro4251=) c.3764C= n.2202C= c.5868C= c.3038C= (p.Pro1013=) n.11069C= c.*10707C= (n.*10707C=) c.13403C= (p.Pro4468=) c.13400C= (p.Pro4467=) c.13238C= (p.Pro4413=) c.13331C= (p.Pro4444=) c.13235C= (p.Pro4412=) c.13355C= (p.Pro4452=) c.13283C= (p.Pro4428=) c.13250C= (p.Pro4417=) c.13166C= (p.Pro4389=) c.12488C= (p.Pro4163=) c.10949C= (p.Pro3650=) c.13370C= (p.Pro4457=) c.13352C= (p.Pro4451=) c.13328C= (p.Pro4443=) c.13256C= (p.Pro4419=) c.13220C= (p.Pro4407=) c.10073C= (p.Pro3358=) c.9677C= (p.Pro3226=) | |
7 | g.152148740G>T | CA370092891 | KMT2C | c.1375C>A n.2319C>A c.13358C>A (p.Pro4453His) n.2487C>A n.8379C>A c.3760C>A c.10697C>A (p.Pro3566His) n.4817C>A c.3832C>A n.1953C>A n.1903C>A c.1604C>A (p.Pro535His) c.8084C>A (p.Pro2695His) c.13187C>A (p.Pro4396His) c.8974C>A c.3829C>A c.3763C>A n.7898C>A c.8087C>A (p.Pro2696His) c.12752C>A (p.Pro4251His) c.3764C>A n.2202C>A c.5868C>A c.3038C>A (p.Pro1013His) n.11069C>A c.*10707C>A (n.*10707C>A) c.13403C>A (p.Pro4468His) c.13400C>A (p.Pro4467His) c.13238C>A (p.Pro4413His) c.13331C>A (p.Pro4444His) c.13235C>A (p.Pro4412His) c.13355C>A (p.Pro4452His) c.13283C>A (p.Pro4428His) c.13250C>A (p.Pro4417His) c.13166C>A (p.Pro4389His) c.12488C>A (p.Pro4163His) c.10949C>A (p.Pro3650His) c.13370C>A (p.Pro4457His) c.13352C>A (p.Pro4451His) c.13328C>A (p.Pro4443His) c.13256C>A (p.Pro4419His) c.13220C>A (p.Pro4407His) c.10073C>A (p.Pro3358His) c.9677C>A (p.Pro3226His) | dbSNP |
7 | g.152148741G>A | CA370092895 | KMT2C | c.1374C>T n.2318C>T c.13357C>T (p.Pro4453Ser) n.2486C>T n.8378C>T c.3759C>T c.10696C>T (p.Pro3566Ser) n.4816C>T c.3831C>T n.1952C>T n.1902C>T c.1603C>T (p.Pro535Ser) c.8083C>T (p.Pro2695Ser) c.13186C>T (p.Pro4396Ser) c.8973C>T c.3828C>T c.3762C>T n.7897C>T c.8086C>T (p.Pro2696Ser) c.12751C>T (p.Pro4251Ser) c.3763C>T n.2201C>T c.5867C>T c.3037C>T (p.Pro1013Ser) n.11068C>T c.*10706C>T (n.*10706C>T) c.13402C>T (p.Pro4468Ser) c.13399C>T (p.Pro4467Ser) c.13237C>T (p.Pro4413Ser) c.13330C>T (p.Pro4444Ser) c.13234C>T (p.Pro4412Ser) c.13354C>T (p.Pro4452Ser) c.13282C>T (p.Pro4428Ser) c.13249C>T (p.Pro4417Ser) c.13165C>T (p.Pro4389Ser) c.12487C>T (p.Pro4163Ser) c.10948C>T (p.Pro3650Ser) c.13369C>T (p.Pro4457Ser) c.13351C>T (p.Pro4451Ser) c.13327C>T (p.Pro4443Ser) c.13255C>T (p.Pro4419Ser) c.13219C>T (p.Pro4407Ser) c.10072C>T (p.Pro3358Ser) c.9676C>T (p.Pro3226Ser) | dbSNP gnomAD v4 |
7 | g.152148741G>C | CA370092896 | KMT2C | c.1374C>G n.2318C>G c.13357C>G (p.Pro4453Ala) n.2486C>G n.8378C>G c.3759C>G c.10696C>G (p.Pro3566Ala) n.4816C>G c.3831C>G n.1952C>G n.1902C>G c.1603C>G (p.Pro535Ala) c.8083C>G (p.Pro2695Ala) c.13186C>G (p.Pro4396Ala) c.8973C>G c.3828C>G c.3762C>G n.7897C>G c.8086C>G (p.Pro2696Ala) c.12751C>G (p.Pro4251Ala) c.3763C>G n.2201C>G c.5867C>G c.3037C>G (p.Pro1013Ala) n.11068C>G c.*10706C>G (n.*10706C>G) c.13402C>G (p.Pro4468Ala) c.13399C>G (p.Pro4467Ala) c.13237C>G (p.Pro4413Ala) c.13330C>G (p.Pro4444Ala) c.13234C>G (p.Pro4412Ala) c.13354C>G (p.Pro4452Ala) c.13282C>G (p.Pro4428Ala) c.13249C>G (p.Pro4417Ala) c.13165C>G (p.Pro4389Ala) c.12487C>G (p.Pro4163Ala) c.10948C>G (p.Pro3650Ala) c.13369C>G (p.Pro4457Ala) c.13351C>G (p.Pro4451Ala) c.13327C>G (p.Pro4443Ala) c.13255C>G (p.Pro4419Ala) c.13219C>G (p.Pro4407Ala) c.10072C>G (p.Pro3358Ala) c.9676C>G (p.Pro3226Ala) | |
7 | g.152148741G>T | CA370092898 | KMT2C | c.1374C>A n.2318C>A c.13357C>A (p.Pro4453Thr) n.2486C>A n.8378C>A c.3759C>A c.10696C>A (p.Pro3566Thr) n.4816C>A c.3831C>A n.1952C>A n.1902C>A c.1603C>A (p.Pro535Thr) c.8083C>A (p.Pro2695Thr) c.13186C>A (p.Pro4396Thr) c.8973C>A c.3828C>A c.3762C>A n.7897C>A c.8086C>A (p.Pro2696Thr) c.12751C>A (p.Pro4251Thr) c.3763C>A n.2201C>A c.5867C>A c.3037C>A (p.Pro1013Thr) n.11068C>A c.*10706C>A (n.*10706C>A) c.13402C>A (p.Pro4468Thr) c.13399C>A (p.Pro4467Thr) c.13237C>A (p.Pro4413Thr) c.13330C>A (p.Pro4444Thr) c.13234C>A (p.Pro4412Thr) c.13354C>A (p.Pro4452Thr) c.13282C>A (p.Pro4428Thr) c.13249C>A (p.Pro4417Thr) c.13165C>A (p.Pro4389Thr) c.12487C>A (p.Pro4163Thr) c.10948C>A (p.Pro3650Thr) c.13369C>A (p.Pro4457Thr) c.13351C>A (p.Pro4451Thr) c.13327C>A (p.Pro4443Thr) c.13255C>A (p.Pro4419Thr) c.13219C>A (p.Pro4407Thr) c.10072C>A (p.Pro3358Thr) c.9676C>A (p.Pro3226Thr) | |
7 | g.152148742C>A | CA458884651 | KMT2C | c.1373G>T n.2317G>T c.13356G>T (p.Val4452=) n.2485G>T n.8377G>T c.3758G>T c.10695G>T (p.Val3565=) n.4815G>T c.3830G>T n.1951G>T n.1901G>T c.1602G>T (p.Val534=) c.8082G>T (p.Val2694=) c.13185G>T (p.Val4395=) c.8972G>T c.3827G>T c.3761G>T n.7896G>T c.8085G>T (p.Val2695=) c.12750G>T (p.Val4250=) c.3762G>T n.2200G>T c.5866G>T c.3036G>T (p.Val1012=) n.11067G>T c.*10705G>T (n.*10705G>T) c.13401G>T (p.Val4467=) c.13398G>T (p.Val4466=) c.13236G>T (p.Val4412=) c.13329G>T (p.Val4443=) c.13233G>T (p.Val4411=) c.13353G>T (p.Val4451=) c.13281G>T (p.Val4427=) c.13248G>T (p.Val4416=) c.13164G>T (p.Val4388=) c.12486G>T (p.Val4162=) c.10947G>T (p.Val3649=) c.13368G>T (p.Val4456=) c.13350G>T (p.Val4450=) c.13326G>T (p.Val4442=) c.13254G>T (p.Val4418=) c.13218G>T (p.Val4406=) c.10071G>T (p.Val3357=) c.9675G>T (p.Val3225=) | dbSNP |
7 | g.152148742C>G | CA458884652 | KMT2C | c.1373G>C n.2317G>C c.13356G>C (p.Val4452=) n.2485G>C n.8377G>C c.3758G>C c.10695G>C (p.Val3565=) n.4815G>C c.3830G>C n.1951G>C n.1901G>C c.1602G>C (p.Val534=) c.8082G>C (p.Val2694=) c.13185G>C (p.Val4395=) c.8972G>C c.3827G>C c.3761G>C n.7896G>C c.8085G>C (p.Val2695=) c.12750G>C (p.Val4250=) c.3762G>C n.2200G>C c.5866G>C c.3036G>C (p.Val1012=) n.11067G>C c.*10705G>C (n.*10705G>C) c.13401G>C (p.Val4467=) c.13398G>C (p.Val4466=) c.13236G>C (p.Val4412=) c.13329G>C (p.Val4443=) c.13233G>C (p.Val4411=) c.13353G>C (p.Val4451=) c.13281G>C (p.Val4427=) c.13248G>C (p.Val4416=) c.13164G>C (p.Val4388=) c.12486G>C (p.Val4162=) c.10947G>C (p.Val3649=) c.13368G>C (p.Val4456=) c.13350G>C (p.Val4450=) c.13326G>C (p.Val4442=) c.13254G>C (p.Val4418=) c.13218G>C (p.Val4406=) c.10071G>C (p.Val3357=) c.9675G>C (p.Val3225=) | |
7 | g.152148742C>T | CA458884653 | KMT2C | c.1373G>A n.2317G>A c.13356G>A (p.Val4452=) n.2485G>A n.8377G>A c.3758G>A c.10695G>A (p.Val3565=) n.4815G>A c.3830G>A n.1951G>A n.1901G>A c.1602G>A (p.Val534=) c.8082G>A (p.Val2694=) c.13185G>A (p.Val4395=) c.8972G>A c.3827G>A c.3761G>A n.7896G>A c.8085G>A (p.Val2695=) c.12750G>A (p.Val4250=) c.3762G>A n.2200G>A c.5866G>A c.3036G>A (p.Val1012=) n.11067G>A c.*10705G>A (n.*10705G>A) c.13401G>A (p.Val4467=) c.13398G>A (p.Val4466=) c.13236G>A (p.Val4412=) c.13329G>A (p.Val4443=) c.13233G>A (p.Val4411=) c.13353G>A (p.Val4451=) c.13281G>A (p.Val4427=) c.13248G>A (p.Val4416=) c.13164G>A (p.Val4388=) c.12486G>A (p.Val4162=) c.10947G>A (p.Val3649=) c.13368G>A (p.Val4456=) c.13350G>A (p.Val4450=) c.13326G>A (p.Val4442=) c.13254G>A (p.Val4418=) c.13218G>A (p.Val4406=) c.10071G>A (p.Val3357=) c.9675G>A (p.Val3225=) | |
7 | g.152148743A>C | CA370092900 | KMT2C | c.1372T>G n.2316T>G c.13355T>G (p.Val4452Gly) n.2484T>G n.8376T>G c.3757T>G c.10694T>G (p.Val3565Gly) n.4814T>G c.3829T>G n.1950T>G n.1900T>G c.1601T>G (p.Val534Gly) c.8081T>G (p.Val2694Gly) c.13184T>G (p.Val4395Gly) c.8971T>G c.3826T>G c.3760T>G n.7895T>G c.8084T>G (p.Val2695Gly) c.12749T>G (p.Val4250Gly) c.3761T>G n.2199T>G c.5865T>G c.3035T>G (p.Val1012Gly) n.11066T>G c.*10704T>G (n.*10704T>G) c.13400T>G (p.Val4467Gly) c.13397T>G (p.Val4466Gly) c.13235T>G (p.Val4412Gly) c.13328T>G (p.Val4443Gly) c.13232T>G (p.Val4411Gly) c.13352T>G (p.Val4451Gly) c.13280T>G (p.Val4427Gly) c.13247T>G (p.Val4416Gly) c.13163T>G (p.Val4388Gly) c.12485T>G (p.Val4162Gly) c.10946T>G (p.Val3649Gly) c.13367T>G (p.Val4456Gly) c.13349T>G (p.Val4450Gly) c.13325T>G (p.Val4442Gly) c.13253T>G (p.Val4418Gly) c.13217T>G (p.Val4406Gly) c.10070T>G (p.Val3357Gly) c.9674T>G (p.Val3225Gly) | |
7 | g.152148743A>G | CA370092901 | KMT2C | c.1372T>C n.2316T>C c.13355T>C (p.Val4452Ala) n.2484T>C n.8376T>C c.3757T>C c.10694T>C (p.Val3565Ala) n.4814T>C c.3829T>C n.1950T>C n.1900T>C c.1601T>C (p.Val534Ala) c.8081T>C (p.Val2694Ala) c.13184T>C (p.Val4395Ala) c.8971T>C c.3826T>C c.3760T>C n.7895T>C c.8084T>C (p.Val2695Ala) c.12749T>C (p.Val4250Ala) c.3761T>C n.2199T>C c.5865T>C c.3035T>C (p.Val1012Ala) n.11066T>C c.*10704T>C (n.*10704T>C) c.13400T>C (p.Val4467Ala) c.13397T>C (p.Val4466Ala) c.13235T>C (p.Val4412Ala) c.13328T>C (p.Val4443Ala) c.13232T>C (p.Val4411Ala) c.13352T>C (p.Val4451Ala) c.13280T>C (p.Val4427Ala) c.13247T>C (p.Val4416Ala) c.13163T>C (p.Val4388Ala) c.12485T>C (p.Val4162Ala) c.10946T>C (p.Val3649Ala) c.13367T>C (p.Val4456Ala) c.13349T>C (p.Val4450Ala) c.13325T>C (p.Val4442Ala) c.13253T>C (p.Val4418Ala) c.13217T>C (p.Val4406Ala) c.10070T>C (p.Val3357Ala) c.9674T>C (p.Val3225Ala) | |
7 | g.152148743A>T | CA370092903 | KMT2C | c.1372T>A n.2316T>A c.13355T>A (p.Val4452Glu) n.2484T>A n.8376T>A c.3757T>A c.10694T>A (p.Val3565Glu) n.4814T>A c.3829T>A n.1950T>A n.1900T>A c.1601T>A (p.Val534Glu) c.8081T>A (p.Val2694Glu) c.13184T>A (p.Val4395Glu) c.8971T>A c.3826T>A c.3760T>A n.7895T>A c.8084T>A (p.Val2695Glu) c.12749T>A (p.Val4250Glu) c.3761T>A n.2199T>A c.5865T>A c.3035T>A (p.Val1012Glu) n.11066T>A c.*10704T>A (n.*10704T>A) c.13400T>A (p.Val4467Glu) c.13397T>A (p.Val4466Glu) c.13235T>A (p.Val4412Glu) c.13328T>A (p.Val4443Glu) c.13232T>A (p.Val4411Glu) c.13352T>A (p.Val4451Glu) c.13280T>A (p.Val4427Glu) c.13247T>A (p.Val4416Glu) c.13163T>A (p.Val4388Glu) c.12485T>A (p.Val4162Glu) c.10946T>A (p.Val3649Glu) c.13367T>A (p.Val4456Glu) c.13349T>A (p.Val4450Glu) c.13325T>A (p.Val4442Glu) c.13253T>A (p.Val4418Glu) c.13217T>A (p.Val4406Glu) c.10070T>A (p.Val3357Glu) c.9674T>A (p.Val3225Glu) | |
7 | g.152148744C>A | CA370092905 | KMT2C | c.1371G>T n.2315G>T c.13354G>T (p.Val4452Leu) n.2483G>T n.8375G>T c.3756G>T c.10693G>T (p.Val3565Leu) n.4813G>T c.3828G>T n.1949G>T n.1899G>T c.1600G>T (p.Val534Leu) c.8080G>T (p.Val2694Leu) c.13183G>T (p.Val4395Leu) c.8970G>T c.3825G>T c.3759G>T n.7894G>T c.8083G>T (p.Val2695Leu) c.12748G>T (p.Val4250Leu) c.3760G>T n.2198G>T c.5864G>T c.3034G>T (p.Val1012Leu) n.11065G>T c.*10703G>T (n.*10703G>T) c.13399G>T (p.Val4467Leu) c.13396G>T (p.Val4466Leu) c.13234G>T (p.Val4412Leu) c.13327G>T (p.Val4443Leu) c.13231G>T (p.Val4411Leu) c.13351G>T (p.Val4451Leu) c.13279G>T (p.Val4427Leu) c.13246G>T (p.Val4416Leu) c.13162G>T (p.Val4388Leu) c.12484G>T (p.Val4162Leu) c.10945G>T (p.Val3649Leu) c.13366G>T (p.Val4456Leu) c.13348G>T (p.Val4450Leu) c.13324G>T (p.Val4442Leu) c.13252G>T (p.Val4418Leu) c.13216G>T (p.Val4406Leu) c.10069G>T (p.Val3357Leu) c.9673G>T (p.Val3225Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148744C= | CA1752986225 | KMT2C | c.1371G= n.2315G= c.13354G= (p.Val4452=) n.2483G= n.8375G= c.3756G= c.10693G= (p.Val3565=) n.4813G= c.3828G= n.1949G= n.1899G= c.1600G= (p.Val534=) c.8080G= (p.Val2694=) c.13183G= (p.Val4395=) c.8970G= c.3825G= c.3759G= n.7894G= c.8083G= (p.Val2695=) c.12748G= (p.Val4250=) c.3760G= n.2198G= c.5864G= c.3034G= (p.Val1012=) n.11065G= c.*10703G= (n.*10703G=) c.13399G= (p.Val4467=) c.13396G= (p.Val4466=) c.13234G= (p.Val4412=) c.13327G= (p.Val4443=) c.13231G= (p.Val4411=) c.13351G= (p.Val4451=) c.13279G= (p.Val4427=) c.13246G= (p.Val4416=) c.13162G= (p.Val4388=) c.12484G= (p.Val4162=) c.10945G= (p.Val3649=) c.13366G= (p.Val4456=) c.13348G= (p.Val4450=) c.13324G= (p.Val4442=) c.13252G= (p.Val4418=) c.13216G= (p.Val4406=) c.10069G= (p.Val3357=) c.9673G= (p.Val3225=) | |
7 | g.152148744C>G | CA370092906 | KMT2C | c.1371G>C n.2315G>C c.13354G>C (p.Val4452Leu) n.2483G>C n.8375G>C c.3756G>C c.10693G>C (p.Val3565Leu) n.4813G>C c.3828G>C n.1949G>C n.1899G>C c.1600G>C (p.Val534Leu) c.8080G>C (p.Val2694Leu) c.13183G>C (p.Val4395Leu) c.8970G>C c.3825G>C c.3759G>C n.7894G>C c.8083G>C (p.Val2695Leu) c.12748G>C (p.Val4250Leu) c.3760G>C n.2198G>C c.5864G>C c.3034G>C (p.Val1012Leu) n.11065G>C c.*10703G>C (n.*10703G>C) c.13399G>C (p.Val4467Leu) c.13396G>C (p.Val4466Leu) c.13234G>C (p.Val4412Leu) c.13327G>C (p.Val4443Leu) c.13231G>C (p.Val4411Leu) c.13351G>C (p.Val4451Leu) c.13279G>C (p.Val4427Leu) c.13246G>C (p.Val4416Leu) c.13162G>C (p.Val4388Leu) c.12484G>C (p.Val4162Leu) c.10945G>C (p.Val3649Leu) c.13366G>C (p.Val4456Leu) c.13348G>C (p.Val4450Leu) c.13324G>C (p.Val4442Leu) c.13252G>C (p.Val4418Leu) c.13216G>C (p.Val4406Leu) c.10069G>C (p.Val3357Leu) c.9673G>C (p.Val3225Leu) | |
7 | g.152148744C>T | CA370092907 | KMT2C | c.1371G>A n.2315G>A c.13354G>A (p.Val4452Met) n.2483G>A n.8375G>A c.3756G>A c.10693G>A (p.Val3565Met) n.4813G>A c.3828G>A n.1949G>A n.1899G>A c.1600G>A (p.Val534Met) c.8080G>A (p.Val2694Met) c.13183G>A (p.Val4395Met) c.8970G>A c.3825G>A c.3759G>A n.7894G>A c.8083G>A (p.Val2695Met) c.12748G>A (p.Val4250Met) c.3760G>A n.2198G>A c.5864G>A c.3034G>A (p.Val1012Met) n.11065G>A c.*10703G>A (n.*10703G>A) c.13399G>A (p.Val4467Met) c.13396G>A (p.Val4466Met) c.13234G>A (p.Val4412Met) c.13327G>A (p.Val4443Met) c.13231G>A (p.Val4411Met) c.13351G>A (p.Val4451Met) c.13279G>A (p.Val4427Met) c.13246G>A (p.Val4416Met) c.13162G>A (p.Val4388Met) c.12484G>A (p.Val4162Met) c.10945G>A (p.Val3649Met) c.13366G>A (p.Val4456Met) c.13348G>A (p.Val4450Met) c.13324G>A (p.Val4442Met) c.13252G>A (p.Val4418Met) c.13216G>A (p.Val4406Met) c.10069G>A (p.Val3357Met) c.9673G>A (p.Val3225Met) | |
7 | g.152148745A= | CA1752986237 | KMT2C | c.1370T= n.2314T= c.13353T= (p.Pro4451=) n.2482T= n.8374T= c.3755T= c.10692T= (p.Pro3564=) n.4812T= c.3827T= n.1948T= n.1898T= c.1599T= (p.Pro533=) c.8079T= (p.Pro2693=) c.13182T= (p.Pro4394=) c.8969T= c.3824T= c.3758T= n.7893T= c.8082T= (p.Pro2694=) c.12747T= (p.Pro4249=) c.3759T= n.2197T= c.5863T= c.3033T= (p.Pro1011=) n.11064T= c.*10702T= (n.*10702T=) c.13398T= (p.Pro4466=) c.13395T= (p.Pro4465=) c.13233T= (p.Pro4411=) c.13326T= (p.Pro4442=) c.13230T= (p.Pro4410=) c.13350T= (p.Pro4450=) c.13278T= (p.Pro4426=) c.13245T= (p.Pro4415=) c.13161T= (p.Pro4387=) c.12483T= (p.Pro4161=) c.10944T= (p.Pro3648=) c.13365T= (p.Pro4455=) c.13347T= (p.Pro4449=) c.13323T= (p.Pro4441=) c.13251T= (p.Pro4417=) c.13215T= (p.Pro4405=) c.10068T= (p.Pro3356=) c.9672T= (p.Pro3224=) | |
7 | g.152148745A>C | CA458884654 | KMT2C | c.1370T>G n.2314T>G c.13353T>G (p.Pro4451=) n.2482T>G n.8374T>G c.3755T>G c.10692T>G (p.Pro3564=) n.4812T>G c.3827T>G n.1948T>G n.1898T>G c.1599T>G (p.Pro533=) c.8079T>G (p.Pro2693=) c.13182T>G (p.Pro4394=) c.8969T>G c.3824T>G c.3758T>G n.7893T>G c.8082T>G (p.Pro2694=) c.12747T>G (p.Pro4249=) c.3759T>G n.2197T>G c.5863T>G c.3033T>G (p.Pro1011=) n.11064T>G c.*10702T>G (n.*10702T>G) c.13398T>G (p.Pro4466=) c.13395T>G (p.Pro4465=) c.13233T>G (p.Pro4411=) c.13326T>G (p.Pro4442=) c.13230T>G (p.Pro4410=) c.13350T>G (p.Pro4450=) c.13278T>G (p.Pro4426=) c.13245T>G (p.Pro4415=) c.13161T>G (p.Pro4387=) c.12483T>G (p.Pro4161=) c.10944T>G (p.Pro3648=) c.13365T>G (p.Pro4455=) c.13347T>G (p.Pro4449=) c.13323T>G (p.Pro4441=) c.13251T>G (p.Pro4417=) c.13215T>G (p.Pro4405=) c.10068T>G (p.Pro3356=) c.9672T>G (p.Pro3224=) | |
7 | g.152148745A>G | CA458884656 | KMT2C | c.1370T>C n.2314T>C c.13353T>C (p.Pro4451=) n.2482T>C n.8374T>C c.3755T>C c.10692T>C (p.Pro3564=) n.4812T>C c.3827T>C n.1948T>C n.1898T>C c.1599T>C (p.Pro533=) c.8079T>C (p.Pro2693=) c.13182T>C (p.Pro4394=) c.8969T>C c.3824T>C c.3758T>C n.7893T>C c.8082T>C (p.Pro2694=) c.12747T>C (p.Pro4249=) c.3759T>C n.2197T>C c.5863T>C c.3033T>C (p.Pro1011=) n.11064T>C c.*10702T>C (n.*10702T>C) c.13398T>C (p.Pro4466=) c.13395T>C (p.Pro4465=) c.13233T>C (p.Pro4411=) c.13326T>C (p.Pro4442=) c.13230T>C (p.Pro4410=) c.13350T>C (p.Pro4450=) c.13278T>C (p.Pro4426=) c.13245T>C (p.Pro4415=) c.13161T>C (p.Pro4387=) c.12483T>C (p.Pro4161=) c.10944T>C (p.Pro3648=) c.13365T>C (p.Pro4455=) c.13347T>C (p.Pro4449=) c.13323T>C (p.Pro4441=) c.13251T>C (p.Pro4417=) c.13215T>C (p.Pro4405=) c.10068T>C (p.Pro3356=) c.9672T>C (p.Pro3224=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148745A>T | CA458884657 | KMT2C | c.1370T>A n.2314T>A c.13353T>A (p.Pro4451=) n.2482T>A n.8374T>A c.3755T>A c.10692T>A (p.Pro3564=) n.4812T>A c.3827T>A n.1948T>A n.1898T>A c.1599T>A (p.Pro533=) c.8079T>A (p.Pro2693=) c.13182T>A (p.Pro4394=) c.8969T>A c.3824T>A c.3758T>A n.7893T>A c.8082T>A (p.Pro2694=) c.12747T>A (p.Pro4249=) c.3759T>A n.2197T>A c.5863T>A c.3033T>A (p.Pro1011=) n.11064T>A c.*10702T>A (n.*10702T>A) c.13398T>A (p.Pro4466=) c.13395T>A (p.Pro4465=) c.13233T>A (p.Pro4411=) c.13326T>A (p.Pro4442=) c.13230T>A (p.Pro4410=) c.13350T>A (p.Pro4450=) c.13278T>A (p.Pro4426=) c.13245T>A (p.Pro4415=) c.13161T>A (p.Pro4387=) c.12483T>A (p.Pro4161=) c.10944T>A (p.Pro3648=) c.13365T>A (p.Pro4455=) c.13347T>A (p.Pro4449=) c.13323T>A (p.Pro4441=) c.13251T>A (p.Pro4417=) c.13215T>A (p.Pro4405=) c.10068T>A (p.Pro3356=) c.9672T>A (p.Pro3224=) | |
7 | g.152148746G>A | CA370092909 | KMT2C | c.1369C>T n.2313C>T c.13352C>T (p.Pro4451Leu) n.2481C>T n.8373C>T c.3754C>T c.10691C>T (p.Pro3564Leu) n.4811C>T c.3826C>T n.1947C>T n.1897C>T c.1598C>T (p.Pro533Leu) c.8078C>T (p.Pro2693Leu) c.13181C>T (p.Pro4394Leu) c.8968C>T c.3823C>T c.3757C>T n.7892C>T c.8081C>T (p.Pro2694Leu) c.12746C>T (p.Pro4249Leu) c.3758C>T n.2196C>T c.5862C>T c.3032C>T (p.Pro1011Leu) n.11063C>T c.*10701C>T (n.*10701C>T) c.13397C>T (p.Pro4466Leu) c.13394C>T (p.Pro4465Leu) c.13232C>T (p.Pro4411Leu) c.13325C>T (p.Pro4442Leu) c.13229C>T (p.Pro4410Leu) c.13349C>T (p.Pro4450Leu) c.13277C>T (p.Pro4426Leu) c.13244C>T (p.Pro4415Leu) c.13160C>T (p.Pro4387Leu) c.12482C>T (p.Pro4161Leu) c.10943C>T (p.Pro3648Leu) c.13364C>T (p.Pro4455Leu) c.13346C>T (p.Pro4449Leu) c.13322C>T (p.Pro4441Leu) c.13250C>T (p.Pro4417Leu) c.13214C>T (p.Pro4405Leu) c.10067C>T (p.Pro3356Leu) c.9671C>T (p.Pro3224Leu) | dbSNP gnomAD v4 |
7 | g.152148746G>C | CA370092911 | KMT2C | c.1369C>G n.2313C>G c.13352C>G (p.Pro4451Arg) n.2481C>G n.8373C>G c.3754C>G c.10691C>G (p.Pro3564Arg) n.4811C>G c.3826C>G n.1947C>G n.1897C>G c.1598C>G (p.Pro533Arg) c.8078C>G (p.Pro2693Arg) c.13181C>G (p.Pro4394Arg) c.8968C>G c.3823C>G c.3757C>G n.7892C>G c.8081C>G (p.Pro2694Arg) c.12746C>G (p.Pro4249Arg) c.3758C>G n.2196C>G c.5862C>G c.3032C>G (p.Pro1011Arg) n.11063C>G c.*10701C>G (n.*10701C>G) c.13397C>G (p.Pro4466Arg) c.13394C>G (p.Pro4465Arg) c.13232C>G (p.Pro4411Arg) c.13325C>G (p.Pro4442Arg) c.13229C>G (p.Pro4410Arg) c.13349C>G (p.Pro4450Arg) c.13277C>G (p.Pro4426Arg) c.13244C>G (p.Pro4415Arg) c.13160C>G (p.Pro4387Arg) c.12482C>G (p.Pro4161Arg) c.10943C>G (p.Pro3648Arg) c.13364C>G (p.Pro4455Arg) c.13346C>G (p.Pro4449Arg) c.13322C>G (p.Pro4441Arg) c.13250C>G (p.Pro4417Arg) c.13214C>G (p.Pro4405Arg) c.10067C>G (p.Pro3356Arg) c.9671C>G (p.Pro3224Arg) | |
7 | g.152148746G>T | CA370092912 | KMT2C | c.1369C>A n.2313C>A c.13352C>A (p.Pro4451His) n.2481C>A n.8373C>A c.3754C>A c.10691C>A (p.Pro3564His) n.4811C>A c.3826C>A n.1947C>A n.1897C>A c.1598C>A (p.Pro533His) c.8078C>A (p.Pro2693His) c.13181C>A (p.Pro4394His) c.8968C>A c.3823C>A c.3757C>A n.7892C>A c.8081C>A (p.Pro2694His) c.12746C>A (p.Pro4249His) c.3758C>A n.2196C>A c.5862C>A c.3032C>A (p.Pro1011His) n.11063C>A c.*10701C>A (n.*10701C>A) c.13397C>A (p.Pro4466His) c.13394C>A (p.Pro4465His) c.13232C>A (p.Pro4411His) c.13325C>A (p.Pro4442His) c.13229C>A (p.Pro4410His) c.13349C>A (p.Pro4450His) c.13277C>A (p.Pro4426His) c.13244C>A (p.Pro4415His) c.13160C>A (p.Pro4387His) c.12482C>A (p.Pro4161His) c.10943C>A (p.Pro3648His) c.13364C>A (p.Pro4455His) c.13346C>A (p.Pro4449His) c.13322C>A (p.Pro4441His) c.13250C>A (p.Pro4417His) c.13214C>A (p.Pro4405His) c.10067C>A (p.Pro3356His) c.9671C>A (p.Pro3224His) | |
7 | g.152148747G>A | CA4578657 | KMT2C | c.1368C>T n.2312C>T c.13351C>T (p.Pro4451Ser) n.2480C>T n.8372C>T c.3753C>T c.10690C>T (p.Pro3564Ser) n.4810C>T c.3825C>T n.1946C>T n.1896C>T c.1597C>T (p.Pro533Ser) c.8077C>T (p.Pro2693Ser) c.13180C>T (p.Pro4394Ser) c.8967C>T c.3822C>T c.3756C>T n.7891C>T c.8080C>T (p.Pro2694Ser) c.12745C>T (p.Pro4249Ser) c.3757C>T n.2195C>T c.5861C>T c.3031C>T (p.Pro1011Ser) n.11062C>T c.*10700C>T (n.*10700C>T) c.13396C>T (p.Pro4466Ser) c.13393C>T (p.Pro4465Ser) c.13231C>T (p.Pro4411Ser) c.13324C>T (p.Pro4442Ser) c.13228C>T (p.Pro4410Ser) c.13348C>T (p.Pro4450Ser) c.13276C>T (p.Pro4426Ser) c.13243C>T (p.Pro4415Ser) c.13159C>T (p.Pro4387Ser) c.12481C>T (p.Pro4161Ser) c.10942C>T (p.Pro3648Ser) c.13363C>T (p.Pro4455Ser) c.13345C>T (p.Pro4449Ser) c.13321C>T (p.Pro4441Ser) c.13249C>T (p.Pro4417Ser) c.13213C>T (p.Pro4405Ser) c.10066C>T (p.Pro3356Ser) c.9670C>T (p.Pro3224Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.152148747G>C | CA370092914 | KMT2C | c.1368C>G n.2312C>G c.13351C>G (p.Pro4451Ala) n.2480C>G n.8372C>G c.3753C>G c.10690C>G (p.Pro3564Ala) n.4810C>G c.3825C>G n.1946C>G n.1896C>G c.1597C>G (p.Pro533Ala) c.8077C>G (p.Pro2693Ala) c.13180C>G (p.Pro4394Ala) c.8967C>G c.3822C>G c.3756C>G n.7891C>G c.8080C>G (p.Pro2694Ala) c.12745C>G (p.Pro4249Ala) c.3757C>G n.2195C>G c.5861C>G c.3031C>G (p.Pro1011Ala) n.11062C>G c.*10700C>G (n.*10700C>G) c.13396C>G (p.Pro4466Ala) c.13393C>G (p.Pro4465Ala) c.13231C>G (p.Pro4411Ala) c.13324C>G (p.Pro4442Ala) c.13228C>G (p.Pro4410Ala) c.13348C>G (p.Pro4450Ala) c.13276C>G (p.Pro4426Ala) c.13243C>G (p.Pro4415Ala) c.13159C>G (p.Pro4387Ala) c.12481C>G (p.Pro4161Ala) c.10942C>G (p.Pro3648Ala) c.13363C>G (p.Pro4455Ala) c.13345C>G (p.Pro4449Ala) c.13321C>G (p.Pro4441Ala) c.13249C>G (p.Pro4417Ala) c.13213C>G (p.Pro4405Ala) c.10066C>G (p.Pro3356Ala) c.9670C>G (p.Pro3224Ala) | dbSNP |
7 | g.152148747G= | CA1752986242 | KMT2C | c.1368C= n.2312C= c.13351C= (p.Pro4451=) n.2480C= n.8372C= c.3753C= c.10690C= (p.Pro3564=) n.4810C= c.3825C= n.1946C= n.1896C= c.1597C= (p.Pro533=) c.8077C= (p.Pro2693=) c.13180C= (p.Pro4394=) c.8967C= c.3822C= c.3756C= n.7891C= c.8080C= (p.Pro2694=) c.12745C= (p.Pro4249=) c.3757C= n.2195C= c.5861C= c.3031C= (p.Pro1011=) n.11062C= c.*10700C= (n.*10700C=) c.13396C= (p.Pro4466=) c.13393C= (p.Pro4465=) c.13231C= (p.Pro4411=) c.13324C= (p.Pro4442=) c.13228C= (p.Pro4410=) c.13348C= (p.Pro4450=) c.13276C= (p.Pro4426=) c.13243C= (p.Pro4415=) c.13159C= (p.Pro4387=) c.12481C= (p.Pro4161=) c.10942C= (p.Pro3648=) c.13363C= (p.Pro4455=) c.13345C= (p.Pro4449=) c.13321C= (p.Pro4441=) c.13249C= (p.Pro4417=) c.13213C= (p.Pro4405=) c.10066C= (p.Pro3356=) c.9670C= (p.Pro3224=) | |
7 | g.152148747G>T | CA370092913 | KMT2C | c.1368C>A n.2312C>A c.13351C>A (p.Pro4451Thr) n.2480C>A n.8372C>A c.3753C>A c.10690C>A (p.Pro3564Thr) n.4810C>A c.3825C>A n.1946C>A n.1896C>A c.1597C>A (p.Pro533Thr) c.8077C>A (p.Pro2693Thr) c.13180C>A (p.Pro4394Thr) c.8967C>A c.3822C>A c.3756C>A n.7891C>A c.8080C>A (p.Pro2694Thr) c.12745C>A (p.Pro4249Thr) c.3757C>A n.2195C>A c.5861C>A c.3031C>A (p.Pro1011Thr) n.11062C>A c.*10700C>A (n.*10700C>A) c.13396C>A (p.Pro4466Thr) c.13393C>A (p.Pro4465Thr) c.13231C>A (p.Pro4411Thr) c.13324C>A (p.Pro4442Thr) c.13228C>A (p.Pro4410Thr) c.13348C>A (p.Pro4450Thr) c.13276C>A (p.Pro4426Thr) c.13243C>A (p.Pro4415Thr) c.13159C>A (p.Pro4387Thr) c.12481C>A (p.Pro4161Thr) c.10942C>A (p.Pro3648Thr) c.13363C>A (p.Pro4455Thr) c.13345C>A (p.Pro4449Thr) c.13321C>A (p.Pro4441Thr) c.13249C>A (p.Pro4417Thr) c.13213C>A (p.Pro4405Thr) c.10066C>A (p.Pro3356Thr) c.9670C>A (p.Pro3224Thr) | |
7 | g.152148748A>C | CA370092916 | KMT2C | c.1367T>G n.2311T>G c.13350T>G (p.Asp4450Glu) n.2479T>G n.8371T>G c.3752T>G c.10689T>G (p.Asp3563Glu) n.4809T>G c.3824T>G n.1945T>G n.1895T>G c.1596T>G (p.Asp532Glu) c.8076T>G (p.Asp2692Glu) c.13179T>G (p.Asp4393Glu) c.8966T>G c.3821T>G c.3755T>G n.7890T>G c.8079T>G (p.Asp2693Glu) c.12744T>G (p.Asp4248Glu) c.3756T>G n.2194T>G c.5860T>G c.3030T>G (p.Asp1010Glu) n.11061T>G c.*10699T>G (n.*10699T>G) c.13395T>G (p.Asp4465Glu) c.13392T>G (p.Asp4464Glu) c.13230T>G (p.Asp4410Glu) c.13323T>G (p.Asp4441Glu) c.13227T>G (p.Asp4409Glu) c.13347T>G (p.Asp4449Glu) c.13275T>G (p.Asp4425Glu) c.13242T>G (p.Asp4414Glu) c.13158T>G (p.Asp4386Glu) c.12480T>G (p.Asp4160Glu) c.10941T>G (p.Asp3647Glu) c.13362T>G (p.Asp4454Glu) c.13344T>G (p.Asp4448Glu) c.13320T>G (p.Asp4440Glu) c.13248T>G (p.Asp4416Glu) c.13212T>G (p.Asp4404Glu) c.10065T>G (p.Asp3355Glu) c.9669T>G (p.Asp3223Glu) | gnomAD v4 |
7 | g.152148748A>G | CA458884659 | KMT2C | c.1367T>C n.2311T>C c.13350T>C (p.Asp4450=) n.2479T>C n.8371T>C c.3752T>C c.10689T>C (p.Asp3563=) n.4809T>C c.3824T>C n.1945T>C n.1895T>C c.1596T>C (p.Asp532=) c.8076T>C (p.Asp2692=) c.13179T>C (p.Asp4393=) c.8966T>C c.3821T>C c.3755T>C n.7890T>C c.8079T>C (p.Asp2693=) c.12744T>C (p.Asp4248=) c.3756T>C n.2194T>C c.5860T>C c.3030T>C (p.Asp1010=) n.11061T>C c.*10699T>C (n.*10699T>C) c.13395T>C (p.Asp4465=) c.13392T>C (p.Asp4464=) c.13230T>C (p.Asp4410=) c.13323T>C (p.Asp4441=) c.13227T>C (p.Asp4409=) c.13347T>C (p.Asp4449=) c.13275T>C (p.Asp4425=) c.13242T>C (p.Asp4414=) c.13158T>C (p.Asp4386=) c.12480T>C (p.Asp4160=) c.10941T>C (p.Asp3647=) c.13362T>C (p.Asp4454=) c.13344T>C (p.Asp4448=) c.13320T>C (p.Asp4440=) c.13248T>C (p.Asp4416=) c.13212T>C (p.Asp4404=) c.10065T>C (p.Asp3355=) c.9669T>C (p.Asp3223=) | |
7 | g.152148748A>T | CA370092917 | KMT2C | c.1367T>A n.2311T>A c.13350T>A (p.Asp4450Glu) n.2479T>A n.8371T>A c.3752T>A c.10689T>A (p.Asp3563Glu) n.4809T>A c.3824T>A n.1945T>A n.1895T>A c.1596T>A (p.Asp532Glu) c.8076T>A (p.Asp2692Glu) c.13179T>A (p.Asp4393Glu) c.8966T>A c.3821T>A c.3755T>A n.7890T>A c.8079T>A (p.Asp2693Glu) c.12744T>A (p.Asp4248Glu) c.3756T>A n.2194T>A c.5860T>A c.3030T>A (p.Asp1010Glu) n.11061T>A c.*10699T>A (n.*10699T>A) c.13395T>A (p.Asp4465Glu) c.13392T>A (p.Asp4464Glu) c.13230T>A (p.Asp4410Glu) c.13323T>A (p.Asp4441Glu) c.13227T>A (p.Asp4409Glu) c.13347T>A (p.Asp4449Glu) c.13275T>A (p.Asp4425Glu) c.13242T>A (p.Asp4414Glu) c.13158T>A (p.Asp4386Glu) c.12480T>A (p.Asp4160Glu) c.10941T>A (p.Asp3647Glu) c.13362T>A (p.Asp4454Glu) c.13344T>A (p.Asp4448Glu) c.13320T>A (p.Asp4440Glu) c.13248T>A (p.Asp4416Glu) c.13212T>A (p.Asp4404Glu) c.10065T>A (p.Asp3355Glu) c.9669T>A (p.Asp3223Glu) | |
7 | g.152148749T>A | CA370092918 | KMT2C | c.1366A>T n.2310A>T c.13349A>T (p.Asp4450Val) n.2478A>T n.8370A>T c.3751A>T c.10688A>T (p.Asp3563Val) n.4808A>T c.3823A>T n.1944A>T n.1894A>T c.1595A>T (p.Asp532Val) c.8075A>T (p.Asp2692Val) c.13178A>T (p.Asp4393Val) c.8965A>T c.3820A>T c.3754A>T n.7889A>T c.8078A>T (p.Asp2693Val) c.12743A>T (p.Asp4248Val) c.3755A>T n.2193A>T c.5859A>T c.3029A>T (p.Asp1010Val) n.11060A>T c.*10698A>T (n.*10698A>T) c.13394A>T (p.Asp4465Val) c.13391A>T (p.Asp4464Val) c.13229A>T (p.Asp4410Val) c.13322A>T (p.Asp4441Val) c.13226A>T (p.Asp4409Val) c.13346A>T (p.Asp4449Val) c.13274A>T (p.Asp4425Val) c.13241A>T (p.Asp4414Val) c.13157A>T (p.Asp4386Val) c.12479A>T (p.Asp4160Val) c.10940A>T (p.Asp3647Val) c.13361A>T (p.Asp4454Val) c.13343A>T (p.Asp4448Val) c.13319A>T (p.Asp4440Val) c.13247A>T (p.Asp4416Val) c.13211A>T (p.Asp4404Val) c.10064A>T (p.Asp3355Val) c.9668A>T (p.Asp3223Val) | dbSNP |
7 | g.152148749T>C | CA370092920 | KMT2C | c.1366A>G n.2310A>G c.13349A>G (p.Asp4450Gly) n.2478A>G n.8370A>G c.3751A>G c.10688A>G (p.Asp3563Gly) n.4808A>G c.3823A>G n.1944A>G n.1894A>G c.1595A>G (p.Asp532Gly) c.8075A>G (p.Asp2692Gly) c.13178A>G (p.Asp4393Gly) c.8965A>G c.3820A>G c.3754A>G n.7889A>G c.8078A>G (p.Asp2693Gly) c.12743A>G (p.Asp4248Gly) c.3755A>G n.2193A>G c.5859A>G c.3029A>G (p.Asp1010Gly) n.11060A>G c.*10698A>G (n.*10698A>G) c.13394A>G (p.Asp4465Gly) c.13391A>G (p.Asp4464Gly) c.13229A>G (p.Asp4410Gly) c.13322A>G (p.Asp4441Gly) c.13226A>G (p.Asp4409Gly) c.13346A>G (p.Asp4449Gly) c.13274A>G (p.Asp4425Gly) c.13241A>G (p.Asp4414Gly) c.13157A>G (p.Asp4386Gly) c.12479A>G (p.Asp4160Gly) c.10940A>G (p.Asp3647Gly) c.13361A>G (p.Asp4454Gly) c.13343A>G (p.Asp4448Gly) c.13319A>G (p.Asp4440Gly) c.13247A>G (p.Asp4416Gly) c.13211A>G (p.Asp4404Gly) c.10064A>G (p.Asp3355Gly) c.9668A>G (p.Asp3223Gly) | dbSNP |
7 | g.152148749T>G | CA370092921 | KMT2C | c.1366A>C n.2310A>C c.13349A>C (p.Asp4450Ala) n.2478A>C n.8370A>C c.3751A>C c.10688A>C (p.Asp3563Ala) n.4808A>C c.3823A>C n.1944A>C n.1894A>C c.1595A>C (p.Asp532Ala) c.8075A>C (p.Asp2692Ala) c.13178A>C (p.Asp4393Ala) c.8965A>C c.3820A>C c.3754A>C n.7889A>C c.8078A>C (p.Asp2693Ala) c.12743A>C (p.Asp4248Ala) c.3755A>C n.2193A>C c.5859A>C c.3029A>C (p.Asp1010Ala) n.11060A>C c.*10698A>C (n.*10698A>C) c.13394A>C (p.Asp4465Ala) c.13391A>C (p.Asp4464Ala) c.13229A>C (p.Asp4410Ala) c.13322A>C (p.Asp4441Ala) c.13226A>C (p.Asp4409Ala) c.13346A>C (p.Asp4449Ala) c.13274A>C (p.Asp4425Ala) c.13241A>C (p.Asp4414Ala) c.13157A>C (p.Asp4386Ala) c.12479A>C (p.Asp4160Ala) c.10940A>C (p.Asp3647Ala) c.13361A>C (p.Asp4454Ala) c.13343A>C (p.Asp4448Ala) c.13319A>C (p.Asp4440Ala) c.13247A>C (p.Asp4416Ala) c.13211A>C (p.Asp4404Ala) c.10064A>C (p.Asp3355Ala) c.9668A>C (p.Asp3223Ala) | |
7 | g.152148749T= | CA1752986247 | KMT2C | c.1366A= n.2310A= c.13349A= (p.Asp4450=) n.2478A= n.8370A= c.3751A= c.10688A= (p.Asp3563=) n.4808A= c.3823A= n.1944A= n.1894A= c.1595A= (p.Asp532=) c.8075A= (p.Asp2692=) c.13178A= (p.Asp4393=) c.8965A= c.3820A= c.3754A= n.7889A= c.8078A= (p.Asp2693=) c.12743A= (p.Asp4248=) c.3755A= n.2193A= c.5859A= c.3029A= (p.Asp1010=) n.11060A= c.*10698A= (n.*10698A=) c.13394A= (p.Asp4465=) c.13391A= (p.Asp4464=) c.13229A= (p.Asp4410=) c.13322A= (p.Asp4441=) c.13226A= (p.Asp4409=) c.13346A= (p.Asp4449=) c.13274A= (p.Asp4425=) c.13241A= (p.Asp4414=) c.13157A= (p.Asp4386=) c.12479A= (p.Asp4160=) c.10940A= (p.Asp3647=) c.13361A= (p.Asp4454=) c.13343A= (p.Asp4448=) c.13319A= (p.Asp4440=) c.13247A= (p.Asp4416=) c.13211A= (p.Asp4404=) c.10064A= (p.Asp3355=) c.9668A= (p.Asp3223=) | |
7 | g.152148750C>A | CA370092923 | KMT2C | c.1365G>T n.2309G>T c.13348G>T (p.Asp4450Tyr) n.2477G>T n.8369G>T c.3750G>T c.10687G>T (p.Asp3563Tyr) n.4807G>T c.3822G>T n.1943G>T n.1893G>T c.1594G>T (p.Asp532Tyr) c.8074G>T (p.Asp2692Tyr) c.13177G>T (p.Asp4393Tyr) c.8964G>T c.3819G>T c.3753G>T n.7888G>T c.8077G>T (p.Asp2693Tyr) c.12742G>T (p.Asp4248Tyr) c.3754G>T n.2192G>T c.5858G>T c.3028G>T (p.Asp1010Tyr) n.11059G>T c.*10697G>T (n.*10697G>T) c.13393G>T (p.Asp4465Tyr) c.13390G>T (p.Asp4464Tyr) c.13228G>T (p.Asp4410Tyr) c.13321G>T (p.Asp4441Tyr) c.13225G>T (p.Asp4409Tyr) c.13345G>T (p.Asp4449Tyr) c.13273G>T (p.Asp4425Tyr) c.13240G>T (p.Asp4414Tyr) c.13156G>T (p.Asp4386Tyr) c.12478G>T (p.Asp4160Tyr) c.10939G>T (p.Asp3647Tyr) c.13360G>T (p.Asp4454Tyr) c.13342G>T (p.Asp4448Tyr) c.13318G>T (p.Asp4440Tyr) c.13246G>T (p.Asp4416Tyr) c.13210G>T (p.Asp4404Tyr) c.10063G>T (p.Asp3355Tyr) c.9667G>T (p.Asp3223Tyr) | dbSNP |
7 | g.152148750C= | CA1752986257 | KMT2C | c.1365G= n.2309G= c.13348G= (p.Asp4450=) n.2477G= n.8369G= c.3750G= c.10687G= (p.Asp3563=) n.4807G= c.3822G= n.1943G= n.1893G= c.1594G= (p.Asp532=) c.8074G= (p.Asp2692=) c.13177G= (p.Asp4393=) c.8964G= c.3819G= c.3753G= n.7888G= c.8077G= (p.Asp2693=) c.12742G= (p.Asp4248=) c.3754G= n.2192G= c.5858G= c.3028G= (p.Asp1010=) n.11059G= c.*10697G= (n.*10697G=) c.13393G= (p.Asp4465=) c.13390G= (p.Asp4464=) c.13228G= (p.Asp4410=) c.13321G= (p.Asp4441=) c.13225G= (p.Asp4409=) c.13345G= (p.Asp4449=) c.13273G= (p.Asp4425=) c.13240G= (p.Asp4414=) c.13156G= (p.Asp4386=) c.12478G= (p.Asp4160=) c.10939G= (p.Asp3647=) c.13360G= (p.Asp4454=) c.13342G= (p.Asp4448=) c.13318G= (p.Asp4440=) c.13246G= (p.Asp4416=) c.13210G= (p.Asp4404=) c.10063G= (p.Asp3355=) c.9667G= (p.Asp3223=) | |
7 | g.152148750C>G | CA370092925 | KMT2C | c.1365G>C n.2309G>C c.13348G>C (p.Asp4450His) n.2477G>C n.8369G>C c.3750G>C c.10687G>C (p.Asp3563His) n.4807G>C c.3822G>C n.1943G>C n.1893G>C c.1594G>C (p.Asp532His) c.8074G>C (p.Asp2692His) c.13177G>C (p.Asp4393His) c.8964G>C c.3819G>C c.3753G>C n.7888G>C c.8077G>C (p.Asp2693His) c.12742G>C (p.Asp4248His) c.3754G>C n.2192G>C c.5858G>C c.3028G>C (p.Asp1010His) n.11059G>C c.*10697G>C (n.*10697G>C) c.13393G>C (p.Asp4465His) c.13390G>C (p.Asp4464His) c.13228G>C (p.Asp4410His) c.13321G>C (p.Asp4441His) c.13225G>C (p.Asp4409His) c.13345G>C (p.Asp4449His) c.13273G>C (p.Asp4425His) c.13240G>C (p.Asp4414His) c.13156G>C (p.Asp4386His) c.12478G>C (p.Asp4160His) c.10939G>C (p.Asp3647His) c.13360G>C (p.Asp4454His) c.13342G>C (p.Asp4448His) c.13318G>C (p.Asp4440His) c.13246G>C (p.Asp4416His) c.13210G>C (p.Asp4404His) c.10063G>C (p.Asp3355His) c.9667G>C (p.Asp3223His) | |
7 | g.152148750C>T | CA4578658 | KMT2C | c.1365G>A n.2309G>A c.13348G>A (p.Asp4450Asn) n.2477G>A n.8369G>A c.3750G>A c.10687G>A (p.Asp3563Asn) n.4807G>A c.3822G>A n.1943G>A n.1893G>A c.1594G>A (p.Asp532Asn) c.8074G>A (p.Asp2692Asn) c.13177G>A (p.Asp4393Asn) c.8964G>A c.3819G>A c.3753G>A n.7888G>A c.8077G>A (p.Asp2693Asn) c.12742G>A (p.Asp4248Asn) c.3754G>A n.2192G>A c.5858G>A c.3028G>A (p.Asp1010Asn) n.11059G>A c.*10697G>A (n.*10697G>A) c.13393G>A (p.Asp4465Asn) c.13390G>A (p.Asp4464Asn) c.13228G>A (p.Asp4410Asn) c.13321G>A (p.Asp4441Asn) c.13225G>A (p.Asp4409Asn) c.13345G>A (p.Asp4449Asn) c.13273G>A (p.Asp4425Asn) c.13240G>A (p.Asp4414Asn) c.13156G>A (p.Asp4386Asn) c.12478G>A (p.Asp4160Asn) c.10939G>A (p.Asp3647Asn) c.13360G>A (p.Asp4454Asn) c.13342G>A (p.Asp4448Asn) c.13318G>A (p.Asp4440Asn) c.13246G>A (p.Asp4416Asn) c.13210G>A (p.Asp4404Asn) c.10063G>A (p.Asp3355Asn) c.9667G>A (p.Asp3223Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148751A= | CA1752986259 | KMT2C | c.1364T= n.2308T= c.13347T= (p.Pro4449=) n.2476T= n.8368T= c.3749T= c.10686T= (p.Pro3562=) n.4806T= c.3821T= n.1942T= n.1892T= c.1593T= (p.Pro531=) c.8073T= (p.Pro2691=) c.13176T= (p.Pro4392=) c.8963T= c.3818T= c.3752T= n.7887T= c.8076T= (p.Pro2692=) c.12741T= (p.Pro4247=) c.3753T= n.2191T= c.5857T= c.3027T= (p.Pro1009=) n.11058T= c.*10696T= (n.*10696T=) c.13392T= (p.Pro4464=) c.13389T= (p.Pro4463=) c.13227T= (p.Pro4409=) c.13320T= (p.Pro4440=) c.13224T= (p.Pro4408=) c.13344T= (p.Pro4448=) c.13272T= (p.Pro4424=) c.13239T= (p.Pro4413=) c.13155T= (p.Pro4385=) c.12477T= (p.Pro4159=) c.10938T= (p.Pro3646=) c.13359T= (p.Pro4453=) c.13341T= (p.Pro4447=) c.13317T= (p.Pro4439=) c.13245T= (p.Pro4415=) c.13209T= (p.Pro4403=) c.10062T= (p.Pro3354=) c.9666T= (p.Pro3222=) | |
7 | g.152148751A>C | CA458884660 | KMT2C | c.1364T>G n.2308T>G c.13347T>G (p.Pro4449=) n.2476T>G n.8368T>G c.3749T>G c.10686T>G (p.Pro3562=) n.4806T>G c.3821T>G n.1942T>G n.1892T>G c.1593T>G (p.Pro531=) c.8073T>G (p.Pro2691=) c.13176T>G (p.Pro4392=) c.8963T>G c.3818T>G c.3752T>G n.7887T>G c.8076T>G (p.Pro2692=) c.12741T>G (p.Pro4247=) c.3753T>G n.2191T>G c.5857T>G c.3027T>G (p.Pro1009=) n.11058T>G c.*10696T>G (n.*10696T>G) c.13392T>G (p.Pro4464=) c.13389T>G (p.Pro4463=) c.13227T>G (p.Pro4409=) c.13320T>G (p.Pro4440=) c.13224T>G (p.Pro4408=) c.13344T>G (p.Pro4448=) c.13272T>G (p.Pro4424=) c.13239T>G (p.Pro4413=) c.13155T>G (p.Pro4385=) c.12477T>G (p.Pro4159=) c.10938T>G (p.Pro3646=) c.13359T>G (p.Pro4453=) c.13341T>G (p.Pro4447=) c.13317T>G (p.Pro4439=) c.13245T>G (p.Pro4415=) c.13209T>G (p.Pro4403=) c.10062T>G (p.Pro3354=) c.9666T>G (p.Pro3222=) | |
7 | g.152148751A>G | CA458884661 | KMT2C | c.1364T>C n.2308T>C c.13347T>C (p.Pro4449=) n.2476T>C n.8368T>C c.3749T>C c.10686T>C (p.Pro3562=) n.4806T>C c.3821T>C n.1942T>C n.1892T>C c.1593T>C (p.Pro531=) c.8073T>C (p.Pro2691=) c.13176T>C (p.Pro4392=) c.8963T>C c.3818T>C c.3752T>C n.7887T>C c.8076T>C (p.Pro2692=) c.12741T>C (p.Pro4247=) c.3753T>C n.2191T>C c.5857T>C c.3027T>C (p.Pro1009=) n.11058T>C c.*10696T>C (n.*10696T>C) c.13392T>C (p.Pro4464=) c.13389T>C (p.Pro4463=) c.13227T>C (p.Pro4409=) c.13320T>C (p.Pro4440=) c.13224T>C (p.Pro4408=) c.13344T>C (p.Pro4448=) c.13272T>C (p.Pro4424=) c.13239T>C (p.Pro4413=) c.13155T>C (p.Pro4385=) c.12477T>C (p.Pro4159=) c.10938T>C (p.Pro3646=) c.13359T>C (p.Pro4453=) c.13341T>C (p.Pro4447=) c.13317T>C (p.Pro4439=) c.13245T>C (p.Pro4415=) c.13209T>C (p.Pro4403=) c.10062T>C (p.Pro3354=) c.9666T>C (p.Pro3222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148751A>T | CA458884662 | KMT2C | c.1364T>A n.2308T>A c.13347T>A (p.Pro4449=) n.2476T>A n.8368T>A c.3749T>A c.10686T>A (p.Pro3562=) n.4806T>A c.3821T>A n.1942T>A n.1892T>A c.1593T>A (p.Pro531=) c.8073T>A (p.Pro2691=) c.13176T>A (p.Pro4392=) c.8963T>A c.3818T>A c.3752T>A n.7887T>A c.8076T>A (p.Pro2692=) c.12741T>A (p.Pro4247=) c.3753T>A n.2191T>A c.5857T>A c.3027T>A (p.Pro1009=) n.11058T>A c.*10696T>A (n.*10696T>A) c.13392T>A (p.Pro4464=) c.13389T>A (p.Pro4463=) c.13227T>A (p.Pro4409=) c.13320T>A (p.Pro4440=) c.13224T>A (p.Pro4408=) c.13344T>A (p.Pro4448=) c.13272T>A (p.Pro4424=) c.13239T>A (p.Pro4413=) c.13155T>A (p.Pro4385=) c.12477T>A (p.Pro4159=) c.10938T>A (p.Pro3646=) c.13359T>A (p.Pro4453=) c.13341T>A (p.Pro4447=) c.13317T>A (p.Pro4439=) c.13245T>A (p.Pro4415=) c.13209T>A (p.Pro4403=) c.10062T>A (p.Pro3354=) c.9666T>A (p.Pro3222=) | |
7 | g.152148752G>A | CA370092928 | KMT2C | c.1363C>T n.2307C>T c.13346C>T (p.Pro4449Leu) n.2475C>T n.8367C>T c.3748C>T c.10685C>T (p.Pro3562Leu) n.4805C>T c.3820C>T n.1941C>T n.1891C>T c.1592C>T (p.Pro531Leu) c.8072C>T (p.Pro2691Leu) c.13175C>T (p.Pro4392Leu) c.8962C>T c.3817C>T c.3751C>T n.7886C>T c.8075C>T (p.Pro2692Leu) c.12740C>T (p.Pro4247Leu) c.3752C>T n.2190C>T c.5856C>T c.3026C>T (p.Pro1009Leu) n.11057C>T c.*10695C>T (n.*10695C>T) c.13391C>T (p.Pro4464Leu) c.13388C>T (p.Pro4463Leu) c.13226C>T (p.Pro4409Leu) c.13319C>T (p.Pro4440Leu) c.13223C>T (p.Pro4408Leu) c.13343C>T (p.Pro4448Leu) c.13271C>T (p.Pro4424Leu) c.13238C>T (p.Pro4413Leu) c.13154C>T (p.Pro4385Leu) c.12476C>T (p.Pro4159Leu) c.10937C>T (p.Pro3646Leu) c.13358C>T (p.Pro4453Leu) c.13340C>T (p.Pro4447Leu) c.13316C>T (p.Pro4439Leu) c.13244C>T (p.Pro4415Leu) c.13208C>T (p.Pro4403Leu) c.10061C>T (p.Pro3354Leu) c.9665C>T (p.Pro3222Leu) | |
7 | g.152148752G>C | CA370092929 | KMT2C | c.1363C>G n.2307C>G c.13346C>G (p.Pro4449Arg) n.2475C>G n.8367C>G c.3748C>G c.10685C>G (p.Pro3562Arg) n.4805C>G c.3820C>G n.1941C>G n.1891C>G c.1592C>G (p.Pro531Arg) c.8072C>G (p.Pro2691Arg) c.13175C>G (p.Pro4392Arg) c.8962C>G c.3817C>G c.3751C>G n.7886C>G c.8075C>G (p.Pro2692Arg) c.12740C>G (p.Pro4247Arg) c.3752C>G n.2190C>G c.5856C>G c.3026C>G (p.Pro1009Arg) n.11057C>G c.*10695C>G (n.*10695C>G) c.13391C>G (p.Pro4464Arg) c.13388C>G (p.Pro4463Arg) c.13226C>G (p.Pro4409Arg) c.13319C>G (p.Pro4440Arg) c.13223C>G (p.Pro4408Arg) c.13343C>G (p.Pro4448Arg) c.13271C>G (p.Pro4424Arg) c.13238C>G (p.Pro4413Arg) c.13154C>G (p.Pro4385Arg) c.12476C>G (p.Pro4159Arg) c.10937C>G (p.Pro3646Arg) c.13358C>G (p.Pro4453Arg) c.13340C>G (p.Pro4447Arg) c.13316C>G (p.Pro4439Arg) c.13244C>G (p.Pro4415Arg) c.13208C>G (p.Pro4403Arg) c.10061C>G (p.Pro3354Arg) c.9665C>G (p.Pro3222Arg) | |
7 | g.152148752G>T | CA370092930 | KMT2C | c.1363C>A n.2307C>A c.13346C>A (p.Pro4449His) n.2475C>A n.8367C>A c.3748C>A c.10685C>A (p.Pro3562His) n.4805C>A c.3820C>A n.1941C>A n.1891C>A c.1592C>A (p.Pro531His) c.8072C>A (p.Pro2691His) c.13175C>A (p.Pro4392His) c.8962C>A c.3817C>A c.3751C>A n.7886C>A c.8075C>A (p.Pro2692His) c.12740C>A (p.Pro4247His) c.3752C>A n.2190C>A c.5856C>A c.3026C>A (p.Pro1009His) n.11057C>A c.*10695C>A (n.*10695C>A) c.13391C>A (p.Pro4464His) c.13388C>A (p.Pro4463His) c.13226C>A (p.Pro4409His) c.13319C>A (p.Pro4440His) c.13223C>A (p.Pro4408His) c.13343C>A (p.Pro4448His) c.13271C>A (p.Pro4424His) c.13238C>A (p.Pro4413His) c.13154C>A (p.Pro4385His) c.12476C>A (p.Pro4159His) c.10937C>A (p.Pro3646His) c.13358C>A (p.Pro4453His) c.13340C>A (p.Pro4447His) c.13316C>A (p.Pro4439His) c.13244C>A (p.Pro4415His) c.13208C>A (p.Pro4403His) c.10061C>A (p.Pro3354His) c.9665C>A (p.Pro3222His) | |
7 | g.152148753G>A | CA370092932 | KMT2C | c.1362C>T n.2306C>T c.13345C>T (p.Pro4449Ser) n.2474C>T n.8366C>T c.3747C>T c.10684C>T (p.Pro3562Ser) n.4804C>T c.3819C>T n.1940C>T n.1890C>T c.1591C>T (p.Pro531Ser) c.8071C>T (p.Pro2691Ser) c.13174C>T (p.Pro4392Ser) c.8961C>T c.3816C>T c.3750C>T n.7885C>T c.8074C>T (p.Pro2692Ser) c.12739C>T (p.Pro4247Ser) c.3751C>T n.2189C>T c.5855C>T c.3025C>T (p.Pro1009Ser) n.11056C>T c.*10694C>T (n.*10694C>T) c.13390C>T (p.Pro4464Ser) c.13387C>T (p.Pro4463Ser) c.13225C>T (p.Pro4409Ser) c.13318C>T (p.Pro4440Ser) c.13222C>T (p.Pro4408Ser) c.13342C>T (p.Pro4448Ser) c.13270C>T (p.Pro4424Ser) c.13237C>T (p.Pro4413Ser) c.13153C>T (p.Pro4385Ser) c.12475C>T (p.Pro4159Ser) c.10936C>T (p.Pro3646Ser) c.13357C>T (p.Pro4453Ser) c.13339C>T (p.Pro4447Ser) c.13315C>T (p.Pro4439Ser) c.13243C>T (p.Pro4415Ser) c.13207C>T (p.Pro4403Ser) c.10060C>T (p.Pro3354Ser) c.9664C>T (p.Pro3222Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.152148753G>C | CA370092933 | KMT2C | c.1362C>G n.2306C>G c.13345C>G (p.Pro4449Ala) n.2474C>G n.8366C>G c.3747C>G c.10684C>G (p.Pro3562Ala) n.4804C>G c.3819C>G n.1940C>G n.1890C>G c.1591C>G (p.Pro531Ala) c.8071C>G (p.Pro2691Ala) c.13174C>G (p.Pro4392Ala) c.8961C>G c.3816C>G c.3750C>G n.7885C>G c.8074C>G (p.Pro2692Ala) c.12739C>G (p.Pro4247Ala) c.3751C>G n.2189C>G c.5855C>G c.3025C>G (p.Pro1009Ala) n.11056C>G c.*10694C>G (n.*10694C>G) c.13390C>G (p.Pro4464Ala) c.13387C>G (p.Pro4463Ala) c.13225C>G (p.Pro4409Ala) c.13318C>G (p.Pro4440Ala) c.13222C>G (p.Pro4408Ala) c.13342C>G (p.Pro4448Ala) c.13270C>G (p.Pro4424Ala) c.13237C>G (p.Pro4413Ala) c.13153C>G (p.Pro4385Ala) c.12475C>G (p.Pro4159Ala) c.10936C>G (p.Pro3646Ala) c.13357C>G (p.Pro4453Ala) c.13339C>G (p.Pro4447Ala) c.13315C>G (p.Pro4439Ala) c.13243C>G (p.Pro4415Ala) c.13207C>G (p.Pro4403Ala) c.10060C>G (p.Pro3354Ala) c.9664C>G (p.Pro3222Ala) | gnomAD v4 |
7 | g.152148753G= | CA1752986262 | KMT2C | c.1362C= n.2306C= c.13345C= (p.Pro4449=) n.2474C= n.8366C= c.3747C= c.10684C= (p.Pro3562=) n.4804C= c.3819C= n.1940C= n.1890C= c.1591C= (p.Pro531=) c.8071C= (p.Pro2691=) c.13174C= (p.Pro4392=) c.8961C= c.3816C= c.3750C= n.7885C= c.8074C= (p.Pro2692=) c.12739C= (p.Pro4247=) c.3751C= n.2189C= c.5855C= c.3025C= (p.Pro1009=) n.11056C= c.*10694C= (n.*10694C=) c.13390C= (p.Pro4464=) c.13387C= (p.Pro4463=) c.13225C= (p.Pro4409=) c.13318C= (p.Pro4440=) c.13222C= (p.Pro4408=) c.13342C= (p.Pro4448=) c.13270C= (p.Pro4424=) c.13237C= (p.Pro4413=) c.13153C= (p.Pro4385=) c.12475C= (p.Pro4159=) c.10936C= (p.Pro3646=) c.13357C= (p.Pro4453=) c.13339C= (p.Pro4447=) c.13315C= (p.Pro4439=) c.13243C= (p.Pro4415=) c.13207C= (p.Pro4403=) c.10060C= (p.Pro3354=) c.9664C= (p.Pro3222=) | |
7 | g.152148753G>T | CA370092935 | KMT2C | c.1362C>A n.2306C>A c.13345C>A (p.Pro4449Thr) n.2474C>A n.8366C>A c.3747C>A c.10684C>A (p.Pro3562Thr) n.4804C>A c.3819C>A n.1940C>A n.1890C>A c.1591C>A (p.Pro531Thr) c.8071C>A (p.Pro2691Thr) c.13174C>A (p.Pro4392Thr) c.8961C>A c.3816C>A c.3750C>A n.7885C>A c.8074C>A (p.Pro2692Thr) c.12739C>A (p.Pro4247Thr) c.3751C>A n.2189C>A c.5855C>A c.3025C>A (p.Pro1009Thr) n.11056C>A c.*10694C>A (n.*10694C>A) c.13390C>A (p.Pro4464Thr) c.13387C>A (p.Pro4463Thr) c.13225C>A (p.Pro4409Thr) c.13318C>A (p.Pro4440Thr) c.13222C>A (p.Pro4408Thr) c.13342C>A (p.Pro4448Thr) c.13270C>A (p.Pro4424Thr) c.13237C>A (p.Pro4413Thr) c.13153C>A (p.Pro4385Thr) c.12475C>A (p.Pro4159Thr) c.10936C>A (p.Pro3646Thr) c.13357C>A (p.Pro4453Thr) c.13339C>A (p.Pro4447Thr) c.13315C>A (p.Pro4439Thr) c.13243C>A (p.Pro4415Thr) c.13207C>A (p.Pro4403Thr) c.10060C>A (p.Pro3354Thr) c.9664C>A (p.Pro3222Thr) | |
7 | g.152148754T>A | CA370092937 | KMT2C | c.1361A>T n.2305A>T c.13344A>T (p.Lys4448Asn) n.2473A>T n.8365A>T c.3746A>T c.10683A>T (p.Lys3561Asn) n.4803A>T c.3818A>T n.1939A>T n.1889A>T c.1590A>T (p.Lys530Asn) c.8070A>T (p.Lys2690Asn) c.13173A>T (p.Lys4391Asn) c.8960A>T c.3815A>T c.3749A>T n.7884A>T c.8073A>T (p.Lys2691Asn) c.12738A>T (p.Lys4246Asn) c.3750A>T n.2188A>T c.5854A>T c.3024A>T (p.Lys1008Asn) n.11055A>T c.*10693A>T (n.*10693A>T) c.13389A>T (p.Lys4463Asn) c.13386A>T (p.Lys4462Asn) c.13224A>T (p.Lys4408Asn) c.13317A>T (p.Lys4439Asn) c.13221A>T (p.Lys4407Asn) c.13341A>T (p.Lys4447Asn) c.13269A>T (p.Lys4423Asn) c.13236A>T (p.Lys4412Asn) c.13152A>T (p.Lys4384Asn) c.12474A>T (p.Lys4158Asn) c.10935A>T (p.Lys3645Asn) c.13356A>T (p.Lys4452Asn) c.13338A>T (p.Lys4446Asn) c.13314A>T (p.Lys4438Asn) c.13242A>T (p.Lys4414Asn) c.13206A>T (p.Lys4402Asn) c.10059A>T (p.Lys3353Asn) c.9663A>T (p.Lys3221Asn) | |
7 | g.152148754T>C | CA458884664 | KMT2C | c.1361A>G n.2305A>G c.13344A>G (p.Lys4448=) n.2473A>G n.8365A>G c.3746A>G c.10683A>G (p.Lys3561=) n.4803A>G c.3818A>G n.1939A>G n.1889A>G c.1590A>G (p.Lys530=) c.8070A>G (p.Lys2690=) c.13173A>G (p.Lys4391=) c.8960A>G c.3815A>G c.3749A>G n.7884A>G c.8073A>G (p.Lys2691=) c.12738A>G (p.Lys4246=) c.3750A>G n.2188A>G c.5854A>G c.3024A>G (p.Lys1008=) n.11055A>G c.*10693A>G (n.*10693A>G) c.13389A>G (p.Lys4463=) c.13386A>G (p.Lys4462=) c.13224A>G (p.Lys4408=) c.13317A>G (p.Lys4439=) c.13221A>G (p.Lys4407=) c.13341A>G (p.Lys4447=) c.13269A>G (p.Lys4423=) c.13236A>G (p.Lys4412=) c.13152A>G (p.Lys4384=) c.12474A>G (p.Lys4158=) c.10935A>G (p.Lys3645=) c.13356A>G (p.Lys4452=) c.13338A>G (p.Lys4446=) c.13314A>G (p.Lys4438=) c.13242A>G (p.Lys4414=) c.13206A>G (p.Lys4402=) c.10059A>G (p.Lys3353=) c.9663A>G (p.Lys3221=) | |
7 | g.152148754T>G | CA370092938 | KMT2C | c.1361A>C n.2305A>C c.13344A>C (p.Lys4448Asn) n.2473A>C n.8365A>C c.3746A>C c.10683A>C (p.Lys3561Asn) n.4803A>C c.3818A>C n.1939A>C n.1889A>C c.1590A>C (p.Lys530Asn) c.8070A>C (p.Lys2690Asn) c.13173A>C (p.Lys4391Asn) c.8960A>C c.3815A>C c.3749A>C n.7884A>C c.8073A>C (p.Lys2691Asn) c.12738A>C (p.Lys4246Asn) c.3750A>C n.2188A>C c.5854A>C c.3024A>C (p.Lys1008Asn) n.11055A>C c.*10693A>C (n.*10693A>C) c.13389A>C (p.Lys4463Asn) c.13386A>C (p.Lys4462Asn) c.13224A>C (p.Lys4408Asn) c.13317A>C (p.Lys4439Asn) c.13221A>C (p.Lys4407Asn) c.13341A>C (p.Lys4447Asn) c.13269A>C (p.Lys4423Asn) c.13236A>C (p.Lys4412Asn) c.13152A>C (p.Lys4384Asn) c.12474A>C (p.Lys4158Asn) c.10935A>C (p.Lys3645Asn) c.13356A>C (p.Lys4452Asn) c.13338A>C (p.Lys4446Asn) c.13314A>C (p.Lys4438Asn) c.13242A>C (p.Lys4414Asn) c.13206A>C (p.Lys4402Asn) c.10059A>C (p.Lys3353Asn) c.9663A>C (p.Lys3221Asn) | |
7 | g.152148755T>A | CA370092939 | KMT2C | c.1360A>T n.2304A>T c.13343A>T (p.Lys4448Ile) n.2472A>T n.8364A>T c.3745A>T c.10682A>T (p.Lys3561Ile) n.4802A>T c.3817A>T n.1938A>T n.1888A>T c.1589A>T (p.Lys530Ile) c.8069A>T (p.Lys2690Ile) c.13172A>T (p.Lys4391Ile) c.8959A>T c.3814A>T c.3748A>T n.7883A>T c.8072A>T (p.Lys2691Ile) c.12737A>T (p.Lys4246Ile) c.3749A>T n.2187A>T c.5853A>T c.3023A>T (p.Lys1008Ile) n.11054A>T c.*10692A>T (n.*10692A>T) c.13388A>T (p.Lys4463Ile) c.13385A>T (p.Lys4462Ile) c.13223A>T (p.Lys4408Ile) c.13316A>T (p.Lys4439Ile) c.13220A>T (p.Lys4407Ile) c.13340A>T (p.Lys4447Ile) c.13268A>T (p.Lys4423Ile) c.13235A>T (p.Lys4412Ile) c.13151A>T (p.Lys4384Ile) c.12473A>T (p.Lys4158Ile) c.10934A>T (p.Lys3645Ile) c.13355A>T (p.Lys4452Ile) c.13337A>T (p.Lys4446Ile) c.13313A>T (p.Lys4438Ile) c.13241A>T (p.Lys4414Ile) c.13205A>T (p.Lys4402Ile) c.10058A>T (p.Lys3353Ile) c.9662A>T (p.Lys3221Ile) | |
7 | g.152148755T>C | CA370092941 | KMT2C | c.1360A>G n.2304A>G c.13343A>G (p.Lys4448Arg) n.2472A>G n.8364A>G c.3745A>G c.10682A>G (p.Lys3561Arg) n.4802A>G c.3817A>G n.1938A>G n.1888A>G c.1589A>G (p.Lys530Arg) c.8069A>G (p.Lys2690Arg) c.13172A>G (p.Lys4391Arg) c.8959A>G c.3814A>G c.3748A>G n.7883A>G c.8072A>G (p.Lys2691Arg) c.12737A>G (p.Lys4246Arg) c.3749A>G n.2187A>G c.5853A>G c.3023A>G (p.Lys1008Arg) n.11054A>G c.*10692A>G (n.*10692A>G) c.13388A>G (p.Lys4463Arg) c.13385A>G (p.Lys4462Arg) c.13223A>G (p.Lys4408Arg) c.13316A>G (p.Lys4439Arg) c.13220A>G (p.Lys4407Arg) c.13340A>G (p.Lys4447Arg) c.13268A>G (p.Lys4423Arg) c.13235A>G (p.Lys4412Arg) c.13151A>G (p.Lys4384Arg) c.12473A>G (p.Lys4158Arg) c.10934A>G (p.Lys3645Arg) c.13355A>G (p.Lys4452Arg) c.13337A>G (p.Lys4446Arg) c.13313A>G (p.Lys4438Arg) c.13241A>G (p.Lys4414Arg) c.13205A>G (p.Lys4402Arg) c.10058A>G (p.Lys3353Arg) c.9662A>G (p.Lys3221Arg) | |
7 | g.152148755T>G | CA370092942 | KMT2C | c.1360A>C n.2304A>C c.13343A>C (p.Lys4448Thr) n.2472A>C n.8364A>C c.3745A>C c.10682A>C (p.Lys3561Thr) n.4802A>C c.3817A>C n.1938A>C n.1888A>C c.1589A>C (p.Lys530Thr) c.8069A>C (p.Lys2690Thr) c.13172A>C (p.Lys4391Thr) c.8959A>C c.3814A>C c.3748A>C n.7883A>C c.8072A>C (p.Lys2691Thr) c.12737A>C (p.Lys4246Thr) c.3749A>C n.2187A>C c.5853A>C c.3023A>C (p.Lys1008Thr) n.11054A>C c.*10692A>C (n.*10692A>C) c.13388A>C (p.Lys4463Thr) c.13385A>C (p.Lys4462Thr) c.13223A>C (p.Lys4408Thr) c.13316A>C (p.Lys4439Thr) c.13220A>C (p.Lys4407Thr) c.13340A>C (p.Lys4447Thr) c.13268A>C (p.Lys4423Thr) c.13235A>C (p.Lys4412Thr) c.13151A>C (p.Lys4384Thr) c.12473A>C (p.Lys4158Thr) c.10934A>C (p.Lys3645Thr) c.13355A>C (p.Lys4452Thr) c.13337A>C (p.Lys4446Thr) c.13313A>C (p.Lys4438Thr) c.13241A>C (p.Lys4414Thr) c.13205A>C (p.Lys4402Thr) c.10058A>C (p.Lys3353Thr) c.9662A>C (p.Lys3221Thr) | |
7 | g.152148756T>A | CA370092944 | KMT2C | c.1359A>T n.2303A>T c.13342A>T (p.Lys4448Ter) n.2471A>T n.8363A>T c.3744A>T c.10681A>T (p.Lys3561Ter) n.4801A>T c.3816A>T n.1937A>T n.1887A>T c.1588A>T (p.Lys530Ter) c.8068A>T (p.Lys2690Ter) c.13171A>T (p.Lys4391Ter) c.8958A>T c.3813A>T c.3747A>T n.7882A>T c.8071A>T (p.Lys2691Ter) c.12736A>T (p.Lys4246Ter) c.3748A>T n.2186A>T c.5852A>T c.3022A>T (p.Lys1008Ter) n.11053A>T c.*10691A>T (n.*10691A>T) c.13387A>T (p.Lys4463Ter) c.13384A>T (p.Lys4462Ter) c.13222A>T (p.Lys4408Ter) c.13315A>T (p.Lys4439Ter) c.13219A>T (p.Lys4407Ter) c.13339A>T (p.Lys4447Ter) c.13267A>T (p.Lys4423Ter) c.13234A>T (p.Lys4412Ter) c.13150A>T (p.Lys4384Ter) c.12472A>T (p.Lys4158Ter) c.10933A>T (p.Lys3645Ter) c.13354A>T (p.Lys4452Ter) c.13336A>T (p.Lys4446Ter) c.13312A>T (p.Lys4438Ter) c.13240A>T (p.Lys4414Ter) c.13204A>T (p.Lys4402Ter) c.10057A>T (p.Lys3353Ter) c.9661A>T (p.Lys3221Ter) | |
7 | g.152148756T>C | CA370092946 | KMT2C | c.1359A>G n.2303A>G c.13342A>G (p.Lys4448Glu) n.2471A>G n.8363A>G c.3744A>G c.10681A>G (p.Lys3561Glu) n.4801A>G c.3816A>G n.1937A>G n.1887A>G c.1588A>G (p.Lys530Glu) c.8068A>G (p.Lys2690Glu) c.13171A>G (p.Lys4391Glu) c.8958A>G c.3813A>G c.3747A>G n.7882A>G c.8071A>G (p.Lys2691Glu) c.12736A>G (p.Lys4246Glu) c.3748A>G n.2186A>G c.5852A>G c.3022A>G (p.Lys1008Glu) n.11053A>G c.*10691A>G (n.*10691A>G) c.13387A>G (p.Lys4463Glu) c.13384A>G (p.Lys4462Glu) c.13222A>G (p.Lys4408Glu) c.13315A>G (p.Lys4439Glu) c.13219A>G (p.Lys4407Glu) c.13339A>G (p.Lys4447Glu) c.13267A>G (p.Lys4423Glu) c.13234A>G (p.Lys4412Glu) c.13150A>G (p.Lys4384Glu) c.12472A>G (p.Lys4158Glu) c.10933A>G (p.Lys3645Glu) c.13354A>G (p.Lys4452Glu) c.13336A>G (p.Lys4446Glu) c.13312A>G (p.Lys4438Glu) c.13240A>G (p.Lys4414Glu) c.13204A>G (p.Lys4402Glu) c.10057A>G (p.Lys3353Glu) c.9661A>G (p.Lys3221Glu) | |
7 | g.152148756T>G | CA370092947 | KMT2C | c.1359A>C n.2303A>C c.13342A>C (p.Lys4448Gln) n.2471A>C n.8363A>C c.3744A>C c.10681A>C (p.Lys3561Gln) n.4801A>C c.3816A>C n.1937A>C n.1887A>C c.1588A>C (p.Lys530Gln) c.8068A>C (p.Lys2690Gln) c.13171A>C (p.Lys4391Gln) c.8958A>C c.3813A>C c.3747A>C n.7882A>C c.8071A>C (p.Lys2691Gln) c.12736A>C (p.Lys4246Gln) c.3748A>C n.2186A>C c.5852A>C c.3022A>C (p.Lys1008Gln) n.11053A>C c.*10691A>C (n.*10691A>C) c.13387A>C (p.Lys4463Gln) c.13384A>C (p.Lys4462Gln) c.13222A>C (p.Lys4408Gln) c.13315A>C (p.Lys4439Gln) c.13219A>C (p.Lys4407Gln) c.13339A>C (p.Lys4447Gln) c.13267A>C (p.Lys4423Gln) c.13234A>C (p.Lys4412Gln) c.13150A>C (p.Lys4384Gln) c.12472A>C (p.Lys4158Gln) c.10933A>C (p.Lys3645Gln) c.13354A>C (p.Lys4452Gln) c.13336A>C (p.Lys4446Gln) c.13312A>C (p.Lys4438Gln) c.13240A>C (p.Lys4414Gln) c.13204A>C (p.Lys4402Gln) c.10057A>C (p.Lys3353Gln) c.9661A>C (p.Lys3221Gln) | ClinVar gnomAD v4 |
7 | g.152148757A>C | CA458884668 | KMT2C | c.1358T>G n.2302T>G c.13341T>G (p.Leu4447=) n.2470T>G n.8362T>G c.3743T>G c.10680T>G (p.Leu3560=) n.4800T>G c.3815T>G n.1936T>G n.1886T>G c.1587T>G (p.Leu529=) c.8067T>G (p.Leu2689=) c.13170T>G (p.Leu4390=) c.8957T>G c.3812T>G c.3746T>G n.7881T>G c.8070T>G (p.Leu2690=) c.12735T>G (p.Leu4245=) c.3747T>G n.2185T>G c.5851T>G c.3021T>G (p.Leu1007=) n.11052T>G c.*10690T>G (n.*10690T>G) c.13386T>G (p.Leu4462=) c.13383T>G (p.Leu4461=) c.13221T>G (p.Leu4407=) c.13314T>G (p.Leu4438=) c.13218T>G (p.Leu4406=) c.13338T>G (p.Leu4446=) c.13266T>G (p.Leu4422=) c.13233T>G (p.Leu4411=) c.13149T>G (p.Leu4383=) c.12471T>G (p.Leu4157=) c.10932T>G (p.Leu3644=) c.13353T>G (p.Leu4451=) c.13335T>G (p.Leu4445=) c.13311T>G (p.Leu4437=) c.13239T>G (p.Leu4413=) c.13203T>G (p.Leu4401=) c.10056T>G (p.Leu3352=) c.9660T>G (p.Leu3220=) | |
7 | g.152148757A>G | CA458884669 | KMT2C | c.1358T>C n.2302T>C c.13341T>C (p.Leu4447=) n.2470T>C n.8362T>C c.3743T>C c.10680T>C (p.Leu3560=) n.4800T>C c.3815T>C n.1936T>C n.1886T>C c.1587T>C (p.Leu529=) c.8067T>C (p.Leu2689=) c.13170T>C (p.Leu4390=) c.8957T>C c.3812T>C c.3746T>C n.7881T>C c.8070T>C (p.Leu2690=) c.12735T>C (p.Leu4245=) c.3747T>C n.2185T>C c.5851T>C c.3021T>C (p.Leu1007=) n.11052T>C c.*10690T>C (n.*10690T>C) c.13386T>C (p.Leu4462=) c.13383T>C (p.Leu4461=) c.13221T>C (p.Leu4407=) c.13314T>C (p.Leu4438=) c.13218T>C (p.Leu4406=) c.13338T>C (p.Leu4446=) c.13266T>C (p.Leu4422=) c.13233T>C (p.Leu4411=) c.13149T>C (p.Leu4383=) c.12471T>C (p.Leu4157=) c.10932T>C (p.Leu3644=) c.13353T>C (p.Leu4451=) c.13335T>C (p.Leu4445=) c.13311T>C (p.Leu4437=) c.13239T>C (p.Leu4413=) c.13203T>C (p.Leu4401=) c.10056T>C (p.Leu3352=) c.9660T>C (p.Leu3220=) | |
7 | g.152148757A>T | CA458884670 | KMT2C | c.1358T>A n.2302T>A c.13341T>A (p.Leu4447=) n.2470T>A n.8362T>A c.3743T>A c.10680T>A (p.Leu3560=) n.4800T>A c.3815T>A n.1936T>A n.1886T>A c.1587T>A (p.Leu529=) c.8067T>A (p.Leu2689=) c.13170T>A (p.Leu4390=) c.8957T>A c.3812T>A c.3746T>A n.7881T>A c.8070T>A (p.Leu2690=) c.12735T>A (p.Leu4245=) c.3747T>A n.2185T>A c.5851T>A c.3021T>A (p.Leu1007=) n.11052T>A c.*10690T>A (n.*10690T>A) c.13386T>A (p.Leu4462=) c.13383T>A (p.Leu4461=) c.13221T>A (p.Leu4407=) c.13314T>A (p.Leu4438=) c.13218T>A (p.Leu4406=) c.13338T>A (p.Leu4446=) c.13266T>A (p.Leu4422=) c.13233T>A (p.Leu4411=) c.13149T>A (p.Leu4383=) c.12471T>A (p.Leu4157=) c.10932T>A (p.Leu3644=) c.13353T>A (p.Leu4451=) c.13335T>A (p.Leu4445=) c.13311T>A (p.Leu4437=) c.13239T>A (p.Leu4413=) c.13203T>A (p.Leu4401=) c.10056T>A (p.Leu3352=) c.9660T>A (p.Leu3220=) | |
7 | g.152148758A>C | CA370092948 | KMT2C | c.1357T>G n.2301T>G c.13340T>G (p.Leu4447Arg) n.2469T>G n.8361T>G c.3742T>G c.10679T>G (p.Leu3560Arg) n.4799T>G c.3814T>G n.1935T>G n.1885T>G c.1586T>G (p.Leu529Arg) c.8066T>G (p.Leu2689Arg) c.13169T>G (p.Leu4390Arg) c.8956T>G c.3811T>G c.3745T>G n.7880T>G c.8069T>G (p.Leu2690Arg) c.12734T>G (p.Leu4245Arg) c.3746T>G n.2184T>G c.5850T>G c.3020T>G (p.Leu1007Arg) n.11051T>G c.*10689T>G (n.*10689T>G) c.13385T>G (p.Leu4462Arg) c.13382T>G (p.Leu4461Arg) c.13220T>G (p.Leu4407Arg) c.13313T>G (p.Leu4438Arg) c.13217T>G (p.Leu4406Arg) c.13337T>G (p.Leu4446Arg) c.13265T>G (p.Leu4422Arg) c.13232T>G (p.Leu4411Arg) c.13148T>G (p.Leu4383Arg) c.12470T>G (p.Leu4157Arg) c.10931T>G (p.Leu3644Arg) c.13352T>G (p.Leu4451Arg) c.13334T>G (p.Leu4445Arg) c.13310T>G (p.Leu4437Arg) c.13238T>G (p.Leu4413Arg) c.13202T>G (p.Leu4401Arg) c.10055T>G (p.Leu3352Arg) c.9659T>G (p.Leu3220Arg) | |
7 | g.152148758A>G | CA370092950 | KMT2C | c.1357T>C n.2301T>C c.13340T>C (p.Leu4447Pro) n.2469T>C n.8361T>C c.3742T>C c.10679T>C (p.Leu3560Pro) n.4799T>C c.3814T>C n.1935T>C n.1885T>C c.1586T>C (p.Leu529Pro) c.8066T>C (p.Leu2689Pro) c.13169T>C (p.Leu4390Pro) c.8956T>C c.3811T>C c.3745T>C n.7880T>C c.8069T>C (p.Leu2690Pro) c.12734T>C (p.Leu4245Pro) c.3746T>C n.2184T>C c.5850T>C c.3020T>C (p.Leu1007Pro) n.11051T>C c.*10689T>C (n.*10689T>C) c.13385T>C (p.Leu4462Pro) c.13382T>C (p.Leu4461Pro) c.13220T>C (p.Leu4407Pro) c.13313T>C (p.Leu4438Pro) c.13217T>C (p.Leu4406Pro) c.13337T>C (p.Leu4446Pro) c.13265T>C (p.Leu4422Pro) c.13232T>C (p.Leu4411Pro) c.13148T>C (p.Leu4383Pro) c.12470T>C (p.Leu4157Pro) c.10931T>C (p.Leu3644Pro) c.13352T>C (p.Leu4451Pro) c.13334T>C (p.Leu4445Pro) c.13310T>C (p.Leu4437Pro) c.13238T>C (p.Leu4413Pro) c.13202T>C (p.Leu4401Pro) c.10055T>C (p.Leu3352Pro) c.9659T>C (p.Leu3220Pro) | |
7 | g.152148758A>T | CA370092952 | KMT2C | c.1357T>A n.2301T>A c.13340T>A (p.Leu4447His) n.2469T>A n.8361T>A c.3742T>A c.10679T>A (p.Leu3560His) n.4799T>A c.3814T>A n.1935T>A n.1885T>A c.1586T>A (p.Leu529His) c.8066T>A (p.Leu2689His) c.13169T>A (p.Leu4390His) c.8956T>A c.3811T>A c.3745T>A n.7880T>A c.8069T>A (p.Leu2690His) c.12734T>A (p.Leu4245His) c.3746T>A n.2184T>A c.5850T>A c.3020T>A (p.Leu1007His) n.11051T>A c.*10689T>A (n.*10689T>A) c.13385T>A (p.Leu4462His) c.13382T>A (p.Leu4461His) c.13220T>A (p.Leu4407His) c.13313T>A (p.Leu4438His) c.13217T>A (p.Leu4406His) c.13337T>A (p.Leu4446His) c.13265T>A (p.Leu4422His) c.13232T>A (p.Leu4411His) c.13148T>A (p.Leu4383His) c.12470T>A (p.Leu4157His) c.10931T>A (p.Leu3644His) c.13352T>A (p.Leu4451His) c.13334T>A (p.Leu4445His) c.13310T>A (p.Leu4437His) c.13238T>A (p.Leu4413His) c.13202T>A (p.Leu4401His) c.10055T>A (p.Leu3352His) c.9659T>A (p.Leu3220His) | |
7 | g.152148759G>A | CA370092953 | KMT2C | c.1356C>T n.2300C>T c.13339C>T (p.Leu4447Phe) n.2468C>T n.8360C>T c.3741C>T c.10678C>T (p.Leu3560Phe) n.4798C>T c.3813C>T n.1934C>T n.1884C>T c.1585C>T (p.Leu529Phe) c.8065C>T (p.Leu2689Phe) c.13168C>T (p.Leu4390Phe) c.8955C>T c.3810C>T c.3744C>T n.7879C>T c.8068C>T (p.Leu2690Phe) c.12733C>T (p.Leu4245Phe) c.3745C>T n.2183C>T c.5849C>T c.3019C>T (p.Leu1007Phe) n.11050C>T c.*10688C>T (n.*10688C>T) c.13384C>T (p.Leu4462Phe) c.13381C>T (p.Leu4461Phe) c.13219C>T (p.Leu4407Phe) c.13312C>T (p.Leu4438Phe) c.13216C>T (p.Leu4406Phe) c.13336C>T (p.Leu4446Phe) c.13264C>T (p.Leu4422Phe) c.13231C>T (p.Leu4411Phe) c.13147C>T (p.Leu4383Phe) c.12469C>T (p.Leu4157Phe) c.10930C>T (p.Leu3644Phe) c.13351C>T (p.Leu4451Phe) c.13333C>T (p.Leu4445Phe) c.13309C>T (p.Leu4437Phe) c.13237C>T (p.Leu4413Phe) c.13201C>T (p.Leu4401Phe) c.10054C>T (p.Leu3352Phe) c.9658C>T (p.Leu3220Phe) | |
7 | g.152148759G>C | CA370092954 | KMT2C | c.1356C>G n.2300C>G c.13339C>G (p.Leu4447Val) n.2468C>G n.8360C>G c.3741C>G c.10678C>G (p.Leu3560Val) n.4798C>G c.3813C>G n.1934C>G n.1884C>G c.1585C>G (p.Leu529Val) c.8065C>G (p.Leu2689Val) c.13168C>G (p.Leu4390Val) c.8955C>G c.3810C>G c.3744C>G n.7879C>G c.8068C>G (p.Leu2690Val) c.12733C>G (p.Leu4245Val) c.3745C>G n.2183C>G c.5849C>G c.3019C>G (p.Leu1007Val) n.11050C>G c.*10688C>G (n.*10688C>G) c.13384C>G (p.Leu4462Val) c.13381C>G (p.Leu4461Val) c.13219C>G (p.Leu4407Val) c.13312C>G (p.Leu4438Val) c.13216C>G (p.Leu4406Val) c.13336C>G (p.Leu4446Val) c.13264C>G (p.Leu4422Val) c.13231C>G (p.Leu4411Val) c.13147C>G (p.Leu4383Val) c.12469C>G (p.Leu4157Val) c.10930C>G (p.Leu3644Val) c.13351C>G (p.Leu4451Val) c.13333C>G (p.Leu4445Val) c.13309C>G (p.Leu4437Val) c.13237C>G (p.Leu4413Val) c.13201C>G (p.Leu4401Val) c.10054C>G (p.Leu3352Val) c.9658C>G (p.Leu3220Val) | |
7 | g.152148759G>T | CA370092956 | KMT2C | c.1356C>A n.2300C>A c.13339C>A (p.Leu4447Ile) n.2468C>A n.8360C>A c.3741C>A c.10678C>A (p.Leu3560Ile) n.4798C>A c.3813C>A n.1934C>A n.1884C>A c.1585C>A (p.Leu529Ile) c.8065C>A (p.Leu2689Ile) c.13168C>A (p.Leu4390Ile) c.8955C>A c.3810C>A c.3744C>A n.7879C>A c.8068C>A (p.Leu2690Ile) c.12733C>A (p.Leu4245Ile) c.3745C>A n.2183C>A c.5849C>A c.3019C>A (p.Leu1007Ile) n.11050C>A c.*10688C>A (n.*10688C>A) c.13384C>A (p.Leu4462Ile) c.13381C>A (p.Leu4461Ile) c.13219C>A (p.Leu4407Ile) c.13312C>A (p.Leu4438Ile) c.13216C>A (p.Leu4406Ile) c.13336C>A (p.Leu4446Ile) c.13264C>A (p.Leu4422Ile) c.13231C>A (p.Leu4411Ile) c.13147C>A (p.Leu4383Ile) c.12469C>A (p.Leu4157Ile) c.10930C>A (p.Leu3644Ile) c.13351C>A (p.Leu4451Ile) c.13333C>A (p.Leu4445Ile) c.13309C>A (p.Leu4437Ile) c.13237C>A (p.Leu4413Ile) c.13201C>A (p.Leu4401Ile) c.10054C>A (p.Leu3352Ile) c.9658C>A (p.Leu3220Ile) | dbSNP |
7 | g.152148761del | CA458884672 | KMT2C | c.1356del n.2300del c.13339del (p.Lys4448AsnfsTer22) n.2468del n.8360del c.3741del c.10678del (p.Lys3561AsnfsTer22) n.4798del c.3813del n.1934del n.1884del c.1585del (p.Lys530AsnfsTer22) c.8065del (p.Lys2690AsnfsTer22) c.13168del (p.Lys4391AsnfsTer22) c.8955del c.3810del c.3744del n.7879del c.8068del (p.Lys2691AsnfsTer22) c.12733del (p.Lys4246AsnfsTer22) c.3745del n.2183del c.5849del c.3019del (p.Lys1008AsnfsTer22) n.11050del c.*10688del (n.*10688del) c.13384del (p.Lys4463AsnfsTer22) c.13381del (p.Lys4462AsnfsTer22) c.13219del (p.Lys4408AsnfsTer22) c.13312del (p.Lys4439AsnfsTer22) c.13216del (p.Lys4407AsnfsTer22) c.13336del (p.Lys4447AsnfsTer22) c.13264del (p.Lys4423AsnfsTer22) c.13231del (p.Lys4412AsnfsTer22) c.13147del (p.Lys4384AsnfsTer22) c.12469del (p.Lys4158AsnfsTer22) c.10930del (p.Lys3645AsnfsTer22) c.13351del (p.Lys4452AsnfsTer22) c.13333del (p.Lys4446AsnfsTer22) c.13309del (p.Lys4438AsnfsTer22) c.13237del (p.Lys4414AsnfsTer22) c.13201del (p.Lys4402AsnfsTer22) c.10054del (p.Lys3353AsnfsTer22) c.9658del (p.Lys3221AsnfsTer22) | COSMIC COSMIC |
7 | g.152148760G>A | CA458884674 | KMT2C | c.1355C>T n.2299C>T c.13338C>T (p.Ser4446=) n.2467C>T n.8359C>T c.3740C>T c.10677C>T (p.Ser3559=) n.4797C>T c.3812C>T n.1933C>T n.1883C>T c.1584C>T (p.Ser528=) c.8064C>T (p.Ser2688=) c.13167C>T (p.Ser4389=) c.8954C>T c.3809C>T c.3743C>T n.7878C>T c.8067C>T (p.Ser2689=) c.12732C>T (p.Ser4244=) c.3744C>T n.2182C>T c.5848C>T c.3018C>T (p.Ser1006=) n.11049C>T c.*10687C>T (n.*10687C>T) c.13383C>T (p.Ser4461=) c.13380C>T (p.Ser4460=) c.13218C>T (p.Ser4406=) c.13311C>T (p.Ser4437=) c.13215C>T (p.Ser4405=) c.13335C>T (p.Ser4445=) c.13263C>T (p.Ser4421=) c.13230C>T (p.Ser4410=) c.13146C>T (p.Ser4382=) c.12468C>T (p.Ser4156=) c.10929C>T (p.Ser3643=) c.13350C>T (p.Ser4450=) c.13332C>T (p.Ser4444=) c.13308C>T (p.Ser4436=) c.13236C>T (p.Ser4412=) c.13200C>T (p.Ser4400=) c.10053C>T (p.Ser3351=) c.9657C>T (p.Ser3219=) | gnomAD v4 |
7 | g.152148760G>C | CA458884673 | KMT2C | c.1355C>G n.2299C>G c.13338C>G (p.Ser4446=) n.2467C>G n.8359C>G c.3740C>G c.10677C>G (p.Ser3559=) n.4797C>G c.3812C>G n.1933C>G n.1883C>G c.1584C>G (p.Ser528=) c.8064C>G (p.Ser2688=) c.13167C>G (p.Ser4389=) c.8954C>G c.3809C>G c.3743C>G n.7878C>G c.8067C>G (p.Ser2689=) c.12732C>G (p.Ser4244=) c.3744C>G n.2182C>G c.5848C>G c.3018C>G (p.Ser1006=) n.11049C>G c.*10687C>G (n.*10687C>G) c.13383C>G (p.Ser4461=) c.13380C>G (p.Ser4460=) c.13218C>G (p.Ser4406=) c.13311C>G (p.Ser4437=) c.13215C>G (p.Ser4405=) c.13335C>G (p.Ser4445=) c.13263C>G (p.Ser4421=) c.13230C>G (p.Ser4410=) c.13146C>G (p.Ser4382=) c.12468C>G (p.Ser4156=) c.10929C>G (p.Ser3643=) c.13350C>G (p.Ser4450=) c.13332C>G (p.Ser4444=) c.13308C>G (p.Ser4436=) c.13236C>G (p.Ser4412=) c.13200C>G (p.Ser4400=) c.10053C>G (p.Ser3351=) c.9657C>G (p.Ser3219=) | |
7 | g.152148760G>T | CA458884675 | KMT2C | c.1355C>A n.2299C>A c.13338C>A (p.Ser4446=) n.2467C>A n.8359C>A c.3740C>A c.10677C>A (p.Ser3559=) n.4797C>A c.3812C>A n.1933C>A n.1883C>A c.1584C>A (p.Ser528=) c.8064C>A (p.Ser2688=) c.13167C>A (p.Ser4389=) c.8954C>A c.3809C>A c.3743C>A n.7878C>A c.8067C>A (p.Ser2689=) c.12732C>A (p.Ser4244=) c.3744C>A n.2182C>A c.5848C>A c.3018C>A (p.Ser1006=) n.11049C>A c.*10687C>A (n.*10687C>A) c.13383C>A (p.Ser4461=) c.13380C>A (p.Ser4460=) c.13218C>A (p.Ser4406=) c.13311C>A (p.Ser4437=) c.13215C>A (p.Ser4405=) c.13335C>A (p.Ser4445=) c.13263C>A (p.Ser4421=) c.13230C>A (p.Ser4410=) c.13146C>A (p.Ser4382=) c.12468C>A (p.Ser4156=) c.10929C>A (p.Ser3643=) c.13350C>A (p.Ser4450=) c.13332C>A (p.Ser4444=) c.13308C>A (p.Ser4436=) c.13236C>A (p.Ser4412=) c.13200C>A (p.Ser4400=) c.10053C>A (p.Ser3351=) c.9657C>A (p.Ser3219=) | |
7 | g.152148761G>A | CA370092959 | KMT2C | c.1354C>T n.2298C>T c.13337C>T (p.Ser4446Phe) n.2466C>T n.8358C>T c.3739C>T c.10676C>T (p.Ser3559Phe) n.4796C>T c.3811C>T n.1932C>T n.1882C>T c.1583C>T (p.Ser528Phe) c.8063C>T (p.Ser2688Phe) c.13166C>T (p.Ser4389Phe) c.8953C>T c.3808C>T c.3742C>T n.7877C>T c.8066C>T (p.Ser2689Phe) c.12731C>T (p.Ser4244Phe) c.3743C>T n.2181C>T c.5847C>T c.3017C>T (p.Ser1006Phe) n.11048C>T c.*10686C>T (n.*10686C>T) c.13382C>T (p.Ser4461Phe) c.13379C>T (p.Ser4460Phe) c.13217C>T (p.Ser4406Phe) c.13310C>T (p.Ser4437Phe) c.13214C>T (p.Ser4405Phe) c.13334C>T (p.Ser4445Phe) c.13262C>T (p.Ser4421Phe) c.13229C>T (p.Ser4410Phe) c.13145C>T (p.Ser4382Phe) c.12467C>T (p.Ser4156Phe) c.10928C>T (p.Ser3643Phe) c.13349C>T (p.Ser4450Phe) c.13331C>T (p.Ser4444Phe) c.13307C>T (p.Ser4436Phe) c.13235C>T (p.Ser4412Phe) c.13199C>T (p.Ser4400Phe) c.10052C>T (p.Ser3351Phe) c.9656C>T (p.Ser3219Phe) | |
7 | g.152148761G>C | CA370092960 | KMT2C | c.1354C>G n.2298C>G c.13337C>G (p.Ser4446Cys) n.2466C>G n.8358C>G c.3739C>G c.10676C>G (p.Ser3559Cys) n.4796C>G c.3811C>G n.1932C>G n.1882C>G c.1583C>G (p.Ser528Cys) c.8063C>G (p.Ser2688Cys) c.13166C>G (p.Ser4389Cys) c.8953C>G c.3808C>G c.3742C>G n.7877C>G c.8066C>G (p.Ser2689Cys) c.12731C>G (p.Ser4244Cys) c.3743C>G n.2181C>G c.5847C>G c.3017C>G (p.Ser1006Cys) n.11048C>G c.*10686C>G (n.*10686C>G) c.13382C>G (p.Ser4461Cys) c.13379C>G (p.Ser4460Cys) c.13217C>G (p.Ser4406Cys) c.13310C>G (p.Ser4437Cys) c.13214C>G (p.Ser4405Cys) c.13334C>G (p.Ser4445Cys) c.13262C>G (p.Ser4421Cys) c.13229C>G (p.Ser4410Cys) c.13145C>G (p.Ser4382Cys) c.12467C>G (p.Ser4156Cys) c.10928C>G (p.Ser3643Cys) c.13349C>G (p.Ser4450Cys) c.13331C>G (p.Ser4444Cys) c.13307C>G (p.Ser4436Cys) c.13235C>G (p.Ser4412Cys) c.13199C>G (p.Ser4400Cys) c.10052C>G (p.Ser3351Cys) c.9656C>G (p.Ser3219Cys) | dbSNP |
7 | g.152148761G>T | CA370092957 | KMT2C | c.1354C>A n.2298C>A c.13337C>A (p.Ser4446Tyr) n.2466C>A n.8358C>A c.3739C>A c.10676C>A (p.Ser3559Tyr) n.4796C>A c.3811C>A n.1932C>A n.1882C>A c.1583C>A (p.Ser528Tyr) c.8063C>A (p.Ser2688Tyr) c.13166C>A (p.Ser4389Tyr) c.8953C>A c.3808C>A c.3742C>A n.7877C>A c.8066C>A (p.Ser2689Tyr) c.12731C>A (p.Ser4244Tyr) c.3743C>A n.2181C>A c.5847C>A c.3017C>A (p.Ser1006Tyr) n.11048C>A c.*10686C>A (n.*10686C>A) c.13382C>A (p.Ser4461Tyr) c.13379C>A (p.Ser4460Tyr) c.13217C>A (p.Ser4406Tyr) c.13310C>A (p.Ser4437Tyr) c.13214C>A (p.Ser4405Tyr) c.13334C>A (p.Ser4445Tyr) c.13262C>A (p.Ser4421Tyr) c.13229C>A (p.Ser4410Tyr) c.13145C>A (p.Ser4382Tyr) c.12467C>A (p.Ser4156Tyr) c.10928C>A (p.Ser3643Tyr) c.13349C>A (p.Ser4450Tyr) c.13331C>A (p.Ser4444Tyr) c.13307C>A (p.Ser4436Tyr) c.13235C>A (p.Ser4412Tyr) c.13199C>A (p.Ser4400Tyr) c.10052C>A (p.Ser3351Tyr) c.9656C>A (p.Ser3219Tyr) | |
7 | g.152148762A>C | CA370092962 | KMT2C | c.1353T>G n.2297T>G c.13336T>G (p.Ser4446Ala) n.2465T>G n.8357T>G c.3738T>G c.10675T>G (p.Ser3559Ala) n.4795T>G c.3810T>G n.1931T>G n.1881T>G c.1582T>G (p.Ser528Ala) c.8062T>G (p.Ser2688Ala) c.13165T>G (p.Ser4389Ala) c.8952T>G c.3807T>G c.3741T>G n.7876T>G c.8065T>G (p.Ser2689Ala) c.12730T>G (p.Ser4244Ala) c.3742T>G n.2180T>G c.5846T>G c.3016T>G (p.Ser1006Ala) n.11047T>G c.*10685T>G (n.*10685T>G) c.13381T>G (p.Ser4461Ala) c.13378T>G (p.Ser4460Ala) c.13216T>G (p.Ser4406Ala) c.13309T>G (p.Ser4437Ala) c.13213T>G (p.Ser4405Ala) c.13333T>G (p.Ser4445Ala) c.13261T>G (p.Ser4421Ala) c.13228T>G (p.Ser4410Ala) c.13144T>G (p.Ser4382Ala) c.12466T>G (p.Ser4156Ala) c.10927T>G (p.Ser3643Ala) c.13348T>G (p.Ser4450Ala) c.13330T>G (p.Ser4444Ala) c.13306T>G (p.Ser4436Ala) c.13234T>G (p.Ser4412Ala) c.13198T>G (p.Ser4400Ala) c.10051T>G (p.Ser3351Ala) c.9655T>G (p.Ser3219Ala) | |
7 | g.152148762A>G | CA370092964 | KMT2C | c.1353T>C n.2297T>C c.13336T>C (p.Ser4446Pro) n.2465T>C n.8357T>C c.3738T>C c.10675T>C (p.Ser3559Pro) n.4795T>C c.3810T>C n.1931T>C n.1881T>C c.1582T>C (p.Ser528Pro) c.8062T>C (p.Ser2688Pro) c.13165T>C (p.Ser4389Pro) c.8952T>C c.3807T>C c.3741T>C n.7876T>C c.8065T>C (p.Ser2689Pro) c.12730T>C (p.Ser4244Pro) c.3742T>C n.2180T>C c.5846T>C c.3016T>C (p.Ser1006Pro) n.11047T>C c.*10685T>C (n.*10685T>C) c.13381T>C (p.Ser4461Pro) c.13378T>C (p.Ser4460Pro) c.13216T>C (p.Ser4406Pro) c.13309T>C (p.Ser4437Pro) c.13213T>C (p.Ser4405Pro) c.13333T>C (p.Ser4445Pro) c.13261T>C (p.Ser4421Pro) c.13228T>C (p.Ser4410Pro) c.13144T>C (p.Ser4382Pro) c.12466T>C (p.Ser4156Pro) c.10927T>C (p.Ser3643Pro) c.13348T>C (p.Ser4450Pro) c.13330T>C (p.Ser4444Pro) c.13306T>C (p.Ser4436Pro) c.13234T>C (p.Ser4412Pro) c.13198T>C (p.Ser4400Pro) c.10051T>C (p.Ser3351Pro) c.9655T>C (p.Ser3219Pro) | |
7 | g.152148762A>T | CA370092963 | KMT2C | c.1353T>A n.2297T>A c.13336T>A (p.Ser4446Thr) n.2465T>A n.8357T>A c.3738T>A c.10675T>A (p.Ser3559Thr) n.4795T>A c.3810T>A n.1931T>A n.1881T>A c.1582T>A (p.Ser528Thr) c.8062T>A (p.Ser2688Thr) c.13165T>A (p.Ser4389Thr) c.8952T>A c.3807T>A c.3741T>A n.7876T>A c.8065T>A (p.Ser2689Thr) c.12730T>A (p.Ser4244Thr) c.3742T>A n.2180T>A c.5846T>A c.3016T>A (p.Ser1006Thr) n.11047T>A c.*10685T>A (n.*10685T>A) c.13381T>A (p.Ser4461Thr) c.13378T>A (p.Ser4460Thr) c.13216T>A (p.Ser4406Thr) c.13309T>A (p.Ser4437Thr) c.13213T>A (p.Ser4405Thr) c.13333T>A (p.Ser4445Thr) c.13261T>A (p.Ser4421Thr) c.13228T>A (p.Ser4410Thr) c.13144T>A (p.Ser4382Thr) c.12466T>A (p.Ser4156Thr) c.10927T>A (p.Ser3643Thr) c.13348T>A (p.Ser4450Thr) c.13330T>A (p.Ser4444Thr) c.13306T>A (p.Ser4436Thr) c.13234T>A (p.Ser4412Thr) c.13198T>A (p.Ser4400Thr) c.10051T>A (p.Ser3351Thr) c.9655T>A (p.Ser3219Thr) | |
7 | g.152148762_152148763del | CA645565076 | KMT2C | c.1352_1353del n.2296_2297del c.13335_13336del (p.Ser4446ProfsTer2) n.2464_2465del n.8356_8357del c.3737_3738del c.10674_10675del (p.Ser3559ProfsTer2) n.4794_4795del c.3809_3810del n.1930_1931del n.1880_1881del c.1581_1582del (p.Ser528ProfsTer2) c.8061_8062del (p.Ser2688ProfsTer2) c.13164_13165del (p.Ser4389ProfsTer2) c.8951_8952del c.3806_3807del c.3740_3741del n.7875_7876del c.8064_8065del (p.Ser2689ProfsTer2) c.12729_12730del (p.Ser4244ProfsTer2) c.3741_3742del n.2179_2180del c.5845_5846del c.3015_3016del (p.Ser1006ProfsTer2) n.11046_11047del c.*10684_*10685del (n.*10684_*10685del) c.13380_13381del (p.Ser4461ProfsTer2) c.13377_13378del (p.Ser4460ProfsTer2) c.13215_13216del (p.Ser4406ProfsTer2) c.13308_13309del (p.Ser4437ProfsTer2) c.13212_13213del (p.Ser4405ProfsTer2) c.13332_13333del (p.Ser4445ProfsTer2) c.13260_13261del (p.Ser4421ProfsTer2) c.13227_13228del (p.Ser4410ProfsTer2) c.13143_13144del (p.Ser4382ProfsTer2) c.12465_12466del (p.Ser4156ProfsTer2) c.10926_10927del (p.Ser3643ProfsTer2) c.13347_13348del (p.Ser4450ProfsTer2) c.13329_13330del (p.Ser4444ProfsTer2) c.13305_13306del (p.Ser4436ProfsTer2) c.13233_13234del (p.Ser4412ProfsTer2) c.13197_13198del (p.Ser4400ProfsTer2) c.10050_10051del (p.Ser3351ProfsTer2) c.9654_9655del (p.Ser3219ProfsTer2) | COSMIC |
7 | g.152148763A= | CA1752986264 | KMT2C | c.1352T= n.2296T= c.13335T= (p.Thr4445=) n.2464T= n.8356T= c.3737T= c.10674T= (p.Thr3558=) n.4794T= c.3809T= n.1930T= n.1880T= c.1581T= (p.Thr527=) c.8061T= (p.Thr2687=) c.13164T= (p.Thr4388=) c.8951T= c.3806T= c.3740T= n.7875T= c.8064T= (p.Thr2688=) c.12729T= (p.Thr4243=) c.3741T= n.2179T= c.5845T= c.3015T= (p.Thr1005=) n.11046T= c.*10684T= (n.*10684T=) c.13380T= (p.Thr4460=) c.13377T= (p.Thr4459=) c.13215T= (p.Thr4405=) c.13308T= (p.Thr4436=) c.13212T= (p.Thr4404=) c.13332T= (p.Thr4444=) c.13260T= (p.Thr4420=) c.13227T= (p.Thr4409=) c.13143T= (p.Thr4381=) c.12465T= (p.Thr4155=) c.10926T= (p.Thr3642=) c.13347T= (p.Thr4449=) c.13329T= (p.Thr4443=) c.13305T= (p.Thr4435=) c.13233T= (p.Thr4411=) c.13197T= (p.Thr4399=) c.10050T= (p.Thr3350=) c.9654T= (p.Thr3218=) | |
7 | g.152148763A>C | CA458884679 | KMT2C | c.1352T>G n.2296T>G c.13335T>G (p.Thr4445=) n.2464T>G n.8356T>G c.3737T>G c.10674T>G (p.Thr3558=) n.4794T>G c.3809T>G n.1930T>G n.1880T>G c.1581T>G (p.Thr527=) c.8061T>G (p.Thr2687=) c.13164T>G (p.Thr4388=) c.8951T>G c.3806T>G c.3740T>G n.7875T>G c.8064T>G (p.Thr2688=) c.12729T>G (p.Thr4243=) c.3741T>G n.2179T>G c.5845T>G c.3015T>G (p.Thr1005=) n.11046T>G c.*10684T>G (n.*10684T>G) c.13380T>G (p.Thr4460=) c.13377T>G (p.Thr4459=) c.13215T>G (p.Thr4405=) c.13308T>G (p.Thr4436=) c.13212T>G (p.Thr4404=) c.13332T>G (p.Thr4444=) c.13260T>G (p.Thr4420=) c.13227T>G (p.Thr4409=) c.13143T>G (p.Thr4381=) c.12465T>G (p.Thr4155=) c.10926T>G (p.Thr3642=) c.13347T>G (p.Thr4449=) c.13329T>G (p.Thr4443=) c.13305T>G (p.Thr4435=) c.13233T>G (p.Thr4411=) c.13197T>G (p.Thr4399=) c.10050T>G (p.Thr3350=) c.9654T>G (p.Thr3218=) | |
7 | g.152148763A>G | CA458884678 | KMT2C | c.1352T>C n.2296T>C c.13335T>C (p.Thr4445=) n.2464T>C n.8356T>C c.3737T>C c.10674T>C (p.Thr3558=) n.4794T>C c.3809T>C n.1930T>C n.1880T>C c.1581T>C (p.Thr527=) c.8061T>C (p.Thr2687=) c.13164T>C (p.Thr4388=) c.8951T>C c.3806T>C c.3740T>C n.7875T>C c.8064T>C (p.Thr2688=) c.12729T>C (p.Thr4243=) c.3741T>C n.2179T>C c.5845T>C c.3015T>C (p.Thr1005=) n.11046T>C c.*10684T>C (n.*10684T>C) c.13380T>C (p.Thr4460=) c.13377T>C (p.Thr4459=) c.13215T>C (p.Thr4405=) c.13308T>C (p.Thr4436=) c.13212T>C (p.Thr4404=) c.13332T>C (p.Thr4444=) c.13260T>C (p.Thr4420=) c.13227T>C (p.Thr4409=) c.13143T>C (p.Thr4381=) c.12465T>C (p.Thr4155=) c.10926T>C (p.Thr3642=) c.13347T>C (p.Thr4449=) c.13329T>C (p.Thr4443=) c.13305T>C (p.Thr4435=) c.13233T>C (p.Thr4411=) c.13197T>C (p.Thr4399=) c.10050T>C (p.Thr3350=) c.9654T>C (p.Thr3218=) | dbSNP gnomAD v4 |
7 | g.152148763A>T | CA458884677 | KMT2C | c.1352T>A n.2296T>A c.13335T>A (p.Thr4445=) n.2464T>A n.8356T>A c.3737T>A c.10674T>A (p.Thr3558=) n.4794T>A c.3809T>A n.1930T>A n.1880T>A c.1581T>A (p.Thr527=) c.8061T>A (p.Thr2687=) c.13164T>A (p.Thr4388=) c.8951T>A c.3806T>A c.3740T>A n.7875T>A c.8064T>A (p.Thr2688=) c.12729T>A (p.Thr4243=) c.3741T>A n.2179T>A c.5845T>A c.3015T>A (p.Thr1005=) n.11046T>A c.*10684T>A (n.*10684T>A) c.13380T>A (p.Thr4460=) c.13377T>A (p.Thr4459=) c.13215T>A (p.Thr4405=) c.13308T>A (p.Thr4436=) c.13212T>A (p.Thr4404=) c.13332T>A (p.Thr4444=) c.13260T>A (p.Thr4420=) c.13227T>A (p.Thr4409=) c.13143T>A (p.Thr4381=) c.12465T>A (p.Thr4155=) c.10926T>A (p.Thr3642=) c.13347T>A (p.Thr4449=) c.13329T>A (p.Thr4443=) c.13305T>A (p.Thr4435=) c.13233T>A (p.Thr4411=) c.13197T>A (p.Thr4399=) c.10050T>A (p.Thr3350=) c.9654T>A (p.Thr3218=) | |
7 | g.152148764G>A | CA370092966 | KMT2C | c.1351C>T n.2295C>T c.13334C>T (p.Thr4445Ile) n.2463C>T n.8355C>T c.3736C>T c.10673C>T (p.Thr3558Ile) n.4793C>T c.3808C>T n.1929C>T n.1879C>T c.1580C>T (p.Thr527Ile) c.8060C>T (p.Thr2687Ile) c.13163C>T (p.Thr4388Ile) c.8950C>T c.3805C>T c.3739C>T n.7874C>T c.8063C>T (p.Thr2688Ile) c.12728C>T (p.Thr4243Ile) c.3740C>T n.2178C>T c.5844C>T c.3014C>T (p.Thr1005Ile) n.11045C>T c.*10683C>T (n.*10683C>T) c.13379C>T (p.Thr4460Ile) c.13376C>T (p.Thr4459Ile) c.13214C>T (p.Thr4405Ile) c.13307C>T (p.Thr4436Ile) c.13211C>T (p.Thr4404Ile) c.13331C>T (p.Thr4444Ile) c.13259C>T (p.Thr4420Ile) c.13226C>T (p.Thr4409Ile) c.13142C>T (p.Thr4381Ile) c.12464C>T (p.Thr4155Ile) c.10925C>T (p.Thr3642Ile) c.13346C>T (p.Thr4449Ile) c.13328C>T (p.Thr4443Ile) c.13304C>T (p.Thr4435Ile) c.13232C>T (p.Thr4411Ile) c.13196C>T (p.Thr4399Ile) c.10049C>T (p.Thr3350Ile) c.9653C>T (p.Thr3218Ile) | dbSNP |
7 | g.152148764G>C | CA370092967 | KMT2C | c.1351C>G n.2295C>G c.13334C>G (p.Thr4445Ser) n.2463C>G n.8355C>G c.3736C>G c.10673C>G (p.Thr3558Ser) n.4793C>G c.3808C>G n.1929C>G n.1879C>G c.1580C>G (p.Thr527Ser) c.8060C>G (p.Thr2687Ser) c.13163C>G (p.Thr4388Ser) c.8950C>G c.3805C>G c.3739C>G n.7874C>G c.8063C>G (p.Thr2688Ser) c.12728C>G (p.Thr4243Ser) c.3740C>G n.2178C>G c.5844C>G c.3014C>G (p.Thr1005Ser) n.11045C>G c.*10683C>G (n.*10683C>G) c.13379C>G (p.Thr4460Ser) c.13376C>G (p.Thr4459Ser) c.13214C>G (p.Thr4405Ser) c.13307C>G (p.Thr4436Ser) c.13211C>G (p.Thr4404Ser) c.13331C>G (p.Thr4444Ser) c.13259C>G (p.Thr4420Ser) c.13226C>G (p.Thr4409Ser) c.13142C>G (p.Thr4381Ser) c.12464C>G (p.Thr4155Ser) c.10925C>G (p.Thr3642Ser) c.13346C>G (p.Thr4449Ser) c.13328C>G (p.Thr4443Ser) c.13304C>G (p.Thr4435Ser) c.13232C>G (p.Thr4411Ser) c.13196C>G (p.Thr4399Ser) c.10049C>G (p.Thr3350Ser) c.9653C>G (p.Thr3218Ser) | |
7 | g.152148764G>T | CA370092969 | KMT2C | c.1351C>A n.2295C>A c.13334C>A (p.Thr4445Asn) n.2463C>A n.8355C>A c.3736C>A c.10673C>A (p.Thr3558Asn) n.4793C>A c.3808C>A n.1929C>A n.1879C>A c.1580C>A (p.Thr527Asn) c.8060C>A (p.Thr2687Asn) c.13163C>A (p.Thr4388Asn) c.8950C>A c.3805C>A c.3739C>A n.7874C>A c.8063C>A (p.Thr2688Asn) c.12728C>A (p.Thr4243Asn) c.3740C>A n.2178C>A c.5844C>A c.3014C>A (p.Thr1005Asn) n.11045C>A c.*10683C>A (n.*10683C>A) c.13379C>A (p.Thr4460Asn) c.13376C>A (p.Thr4459Asn) c.13214C>A (p.Thr4405Asn) c.13307C>A (p.Thr4436Asn) c.13211C>A (p.Thr4404Asn) c.13331C>A (p.Thr4444Asn) c.13259C>A (p.Thr4420Asn) c.13226C>A (p.Thr4409Asn) c.13142C>A (p.Thr4381Asn) c.12464C>A (p.Thr4155Asn) c.10925C>A (p.Thr3642Asn) c.13346C>A (p.Thr4449Asn) c.13328C>A (p.Thr4443Asn) c.13304C>A (p.Thr4435Asn) c.13232C>A (p.Thr4411Asn) c.13196C>A (p.Thr4399Asn) c.10049C>A (p.Thr3350Asn) c.9653C>A (p.Thr3218Asn) | |
7 | g.152148765T>A | CA4578659 | KMT2C | c.1350A>T n.2294A>T c.13333A>T (p.Thr4445Ser) n.2462A>T n.8354A>T c.3735A>T c.10672A>T (p.Thr3558Ser) n.4792A>T c.3807A>T n.1928A>T n.1878A>T c.1579A>T (p.Thr527Ser) c.8059A>T (p.Thr2687Ser) c.13162A>T (p.Thr4388Ser) c.8949A>T c.3804A>T c.3738A>T n.7873A>T c.8062A>T (p.Thr2688Ser) c.12727A>T (p.Thr4243Ser) c.3739A>T n.2177A>T c.5843A>T c.3013A>T (p.Thr1005Ser) n.11044A>T c.*10682A>T (n.*10682A>T) c.13378A>T (p.Thr4460Ser) c.13375A>T (p.Thr4459Ser) c.13213A>T (p.Thr4405Ser) c.13306A>T (p.Thr4436Ser) c.13210A>T (p.Thr4404Ser) c.13330A>T (p.Thr4444Ser) c.13258A>T (p.Thr4420Ser) c.13225A>T (p.Thr4409Ser) c.13141A>T (p.Thr4381Ser) c.12463A>T (p.Thr4155Ser) c.10924A>T (p.Thr3642Ser) c.13345A>T (p.Thr4449Ser) c.13327A>T (p.Thr4443Ser) c.13303A>T (p.Thr4435Ser) c.13231A>T (p.Thr4411Ser) c.13195A>T (p.Thr4399Ser) c.10048A>T (p.Thr3350Ser) c.9652A>T (p.Thr3218Ser) | dbSNP ExAC gnomAD v4 |
7 | g.152148765T>C | CA370092971 | KMT2C | c.1350A>G n.2294A>G c.13333A>G (p.Thr4445Ala) n.2462A>G n.8354A>G c.3735A>G c.10672A>G (p.Thr3558Ala) n.4792A>G c.3807A>G n.1928A>G n.1878A>G c.1579A>G (p.Thr527Ala) c.8059A>G (p.Thr2687Ala) c.13162A>G (p.Thr4388Ala) c.8949A>G c.3804A>G c.3738A>G n.7873A>G c.8062A>G (p.Thr2688Ala) c.12727A>G (p.Thr4243Ala) c.3739A>G n.2177A>G c.5843A>G c.3013A>G (p.Thr1005Ala) n.11044A>G c.*10682A>G (n.*10682A>G) c.13378A>G (p.Thr4460Ala) c.13375A>G (p.Thr4459Ala) c.13213A>G (p.Thr4405Ala) c.13306A>G (p.Thr4436Ala) c.13210A>G (p.Thr4404Ala) c.13330A>G (p.Thr4444Ala) c.13258A>G (p.Thr4420Ala) c.13225A>G (p.Thr4409Ala) c.13141A>G (p.Thr4381Ala) c.12463A>G (p.Thr4155Ala) c.10924A>G (p.Thr3642Ala) c.13345A>G (p.Thr4449Ala) c.13327A>G (p.Thr4443Ala) c.13303A>G (p.Thr4435Ala) c.13231A>G (p.Thr4411Ala) c.13195A>G (p.Thr4399Ala) c.10048A>G (p.Thr3350Ala) c.9652A>G (p.Thr3218Ala) | dbSNP gnomAD v4 |
7 | g.152148765T>G | CA370092972 | KMT2C | c.1350A>C n.2294A>C c.13333A>C (p.Thr4445Pro) n.2462A>C n.8354A>C c.3735A>C c.10672A>C (p.Thr3558Pro) n.4792A>C c.3807A>C n.1928A>C n.1878A>C c.1579A>C (p.Thr527Pro) c.8059A>C (p.Thr2687Pro) c.13162A>C (p.Thr4388Pro) c.8949A>C c.3804A>C c.3738A>C n.7873A>C c.8062A>C (p.Thr2688Pro) c.12727A>C (p.Thr4243Pro) c.3739A>C n.2177A>C c.5843A>C c.3013A>C (p.Thr1005Pro) n.11044A>C c.*10682A>C (n.*10682A>C) c.13378A>C (p.Thr4460Pro) c.13375A>C (p.Thr4459Pro) c.13213A>C (p.Thr4405Pro) c.13306A>C (p.Thr4436Pro) c.13210A>C (p.Thr4404Pro) c.13330A>C (p.Thr4444Pro) c.13258A>C (p.Thr4420Pro) c.13225A>C (p.Thr4409Pro) c.13141A>C (p.Thr4381Pro) c.12463A>C (p.Thr4155Pro) c.10924A>C (p.Thr3642Pro) c.13345A>C (p.Thr4449Pro) c.13327A>C (p.Thr4443Pro) c.13303A>C (p.Thr4435Pro) c.13231A>C (p.Thr4411Pro) c.13195A>C (p.Thr4399Pro) c.10048A>C (p.Thr3350Pro) c.9652A>C (p.Thr3218Pro) | dbSNP COSMIC COSMIC |
7 | g.152148765T= | CA1752986269 | KMT2C | c.1350A= n.2294A= c.13333A= (p.Thr4445=) n.2462A= n.8354A= c.3735A= c.10672A= (p.Thr3558=) n.4792A= c.3807A= n.1928A= n.1878A= c.1579A= (p.Thr527=) c.8059A= (p.Thr2687=) c.13162A= (p.Thr4388=) c.8949A= c.3804A= c.3738A= n.7873A= c.8062A= (p.Thr2688=) c.12727A= (p.Thr4243=) c.3739A= n.2177A= c.5843A= c.3013A= (p.Thr1005=) n.11044A= c.*10682A= (n.*10682A=) c.13378A= (p.Thr4460=) c.13375A= (p.Thr4459=) c.13213A= (p.Thr4405=) c.13306A= (p.Thr4436=) c.13210A= (p.Thr4404=) c.13330A= (p.Thr4444=) c.13258A= (p.Thr4420=) c.13225A= (p.Thr4409=) c.13141A= (p.Thr4381=) c.12463A= (p.Thr4155=) c.10924A= (p.Thr3642=) c.13345A= (p.Thr4449=) c.13327A= (p.Thr4443=) c.13303A= (p.Thr4435=) c.13231A= (p.Thr4411=) c.13195A= (p.Thr4399=) c.10048A= (p.Thr3350=) c.9652A= (p.Thr3218=) | |
7 | g.152148766G>A | CA458884680 | KMT2C | c.1349C>T n.2293C>T c.13332C>T (p.Gly4444=) n.2461C>T n.8353C>T c.3734C>T c.10671C>T (p.Gly3557=) n.4791C>T c.3806C>T n.1927C>T n.1877C>T c.1578C>T (p.Gly526=) c.8058C>T (p.Gly2686=) c.13161C>T (p.Gly4387=) c.8948C>T c.3803C>T c.3737C>T n.7872C>T c.8061C>T (p.Gly2687=) c.12726C>T (p.Gly4242=) c.3738C>T n.2176C>T c.5842C>T c.3012C>T (p.Gly1004=) n.11043C>T c.*10681C>T (n.*10681C>T) c.13377C>T (p.Gly4459=) c.13374C>T (p.Gly4458=) c.13212C>T (p.Gly4404=) c.13305C>T (p.Gly4435=) c.13209C>T (p.Gly4403=) c.13329C>T (p.Gly4443=) c.13257C>T (p.Gly4419=) c.13224C>T (p.Gly4408=) c.13140C>T (p.Gly4380=) c.12462C>T (p.Gly4154=) c.10923C>T (p.Gly3641=) c.13344C>T (p.Gly4448=) c.13326C>T (p.Gly4442=) c.13302C>T (p.Gly4434=) c.13230C>T (p.Gly4410=) c.13194C>T (p.Gly4398=) c.10047C>T (p.Gly3349=) c.9651C>T (p.Gly3217=) | |
7 | g.152148766G>C | CA458884682 | KMT2C | c.1349C>G n.2293C>G c.13332C>G (p.Gly4444=) n.2461C>G n.8353C>G c.3734C>G c.10671C>G (p.Gly3557=) n.4791C>G c.3806C>G n.1927C>G n.1877C>G c.1578C>G (p.Gly526=) c.8058C>G (p.Gly2686=) c.13161C>G (p.Gly4387=) c.8948C>G c.3803C>G c.3737C>G n.7872C>G c.8061C>G (p.Gly2687=) c.12726C>G (p.Gly4242=) c.3738C>G n.2176C>G c.5842C>G c.3012C>G (p.Gly1004=) n.11043C>G c.*10681C>G (n.*10681C>G) c.13377C>G (p.Gly4459=) c.13374C>G (p.Gly4458=) c.13212C>G (p.Gly4404=) c.13305C>G (p.Gly4435=) c.13209C>G (p.Gly4403=) c.13329C>G (p.Gly4443=) c.13257C>G (p.Gly4419=) c.13224C>G (p.Gly4408=) c.13140C>G (p.Gly4380=) c.12462C>G (p.Gly4154=) c.10923C>G (p.Gly3641=) c.13344C>G (p.Gly4448=) c.13326C>G (p.Gly4442=) c.13302C>G (p.Gly4434=) c.13230C>G (p.Gly4410=) c.13194C>G (p.Gly4398=) c.10047C>G (p.Gly3349=) c.9651C>G (p.Gly3217=) | |
7 | g.152148766G>T | CA458884681 | KMT2C | c.1349C>A n.2293C>A c.13332C>A (p.Gly4444=) n.2461C>A n.8353C>A c.3734C>A c.10671C>A (p.Gly3557=) n.4791C>A c.3806C>A n.1927C>A n.1877C>A c.1578C>A (p.Gly526=) c.8058C>A (p.Gly2686=) c.13161C>A (p.Gly4387=) c.8948C>A c.3803C>A c.3737C>A n.7872C>A c.8061C>A (p.Gly2687=) c.12726C>A (p.Gly4242=) c.3738C>A n.2176C>A c.5842C>A c.3012C>A (p.Gly1004=) n.11043C>A c.*10681C>A (n.*10681C>A) c.13377C>A (p.Gly4459=) c.13374C>A (p.Gly4458=) c.13212C>A (p.Gly4404=) c.13305C>A (p.Gly4435=) c.13209C>A (p.Gly4403=) c.13329C>A (p.Gly4443=) c.13257C>A (p.Gly4419=) c.13224C>A (p.Gly4408=) c.13140C>A (p.Gly4380=) c.12462C>A (p.Gly4154=) c.10923C>A (p.Gly3641=) c.13344C>A (p.Gly4448=) c.13326C>A (p.Gly4442=) c.13302C>A (p.Gly4434=) c.13230C>A (p.Gly4410=) c.13194C>A (p.Gly4398=) c.10047C>A (p.Gly3349=) c.9651C>A (p.Gly3217=) | |
7 | g.152148767C>A | CA370092974 | KMT2C | c.1348G>T n.2292G>T c.13331G>T (p.Gly4444Val) n.2460G>T n.8352G>T c.3733G>T c.10670G>T (p.Gly3557Val) n.4790G>T c.3805G>T n.1926G>T n.1876G>T c.1577G>T (p.Gly526Val) c.8057G>T (p.Gly2686Val) c.13160G>T (p.Gly4387Val) c.8947G>T c.3802G>T c.3736G>T n.7871G>T c.8060G>T (p.Gly2687Val) c.12725G>T (p.Gly4242Val) c.3737G>T n.2175G>T c.5841G>T c.3011G>T (p.Gly1004Val) n.11042G>T c.*10680G>T (n.*10680G>T) c.13376G>T (p.Gly4459Val) c.13373G>T (p.Gly4458Val) c.13211G>T (p.Gly4404Val) c.13304G>T (p.Gly4435Val) c.13208G>T (p.Gly4403Val) c.13328G>T (p.Gly4443Val) c.13256G>T (p.Gly4419Val) c.13223G>T (p.Gly4408Val) c.13139G>T (p.Gly4380Val) c.12461G>T (p.Gly4154Val) c.10922G>T (p.Gly3641Val) c.13343G>T (p.Gly4448Val) c.13325G>T (p.Gly4442Val) c.13301G>T (p.Gly4434Val) c.13229G>T (p.Gly4410Val) c.13193G>T (p.Gly4398Val) c.10046G>T (p.Gly3349Val) c.9650G>T (p.Gly3217Val) | |
7 | g.152148767C>G | CA370092976 | KMT2C | c.1348G>C n.2292G>C c.13331G>C (p.Gly4444Ala) n.2460G>C n.8352G>C c.3733G>C c.10670G>C (p.Gly3557Ala) n.4790G>C c.3805G>C n.1926G>C n.1876G>C c.1577G>C (p.Gly526Ala) c.8057G>C (p.Gly2686Ala) c.13160G>C (p.Gly4387Ala) c.8947G>C c.3802G>C c.3736G>C n.7871G>C c.8060G>C (p.Gly2687Ala) c.12725G>C (p.Gly4242Ala) c.3737G>C n.2175G>C c.5841G>C c.3011G>C (p.Gly1004Ala) n.11042G>C c.*10680G>C (n.*10680G>C) c.13376G>C (p.Gly4459Ala) c.13373G>C (p.Gly4458Ala) c.13211G>C (p.Gly4404Ala) c.13304G>C (p.Gly4435Ala) c.13208G>C (p.Gly4403Ala) c.13328G>C (p.Gly4443Ala) c.13256G>C (p.Gly4419Ala) c.13223G>C (p.Gly4408Ala) c.13139G>C (p.Gly4380Ala) c.12461G>C (p.Gly4154Ala) c.10922G>C (p.Gly3641Ala) c.13343G>C (p.Gly4448Ala) c.13325G>C (p.Gly4442Ala) c.13301G>C (p.Gly4434Ala) c.13229G>C (p.Gly4410Ala) c.13193G>C (p.Gly4398Ala) c.10046G>C (p.Gly3349Ala) c.9650G>C (p.Gly3217Ala) | |
7 | g.152148767C>T | CA370092977 | KMT2C | c.1348G>A n.2292G>A c.13331G>A (p.Gly4444Asp) n.2460G>A n.8352G>A c.3733G>A c.10670G>A (p.Gly3557Asp) n.4790G>A c.3805G>A n.1926G>A n.1876G>A c.1577G>A (p.Gly526Asp) c.8057G>A (p.Gly2686Asp) c.13160G>A (p.Gly4387Asp) c.8947G>A c.3802G>A c.3736G>A n.7871G>A c.8060G>A (p.Gly2687Asp) c.12725G>A (p.Gly4242Asp) c.3737G>A n.2175G>A c.5841G>A c.3011G>A (p.Gly1004Asp) n.11042G>A c.*10680G>A (n.*10680G>A) c.13376G>A (p.Gly4459Asp) c.13373G>A (p.Gly4458Asp) c.13211G>A (p.Gly4404Asp) c.13304G>A (p.Gly4435Asp) c.13208G>A (p.Gly4403Asp) c.13328G>A (p.Gly4443Asp) c.13256G>A (p.Gly4419Asp) c.13223G>A (p.Gly4408Asp) c.13139G>A (p.Gly4380Asp) c.12461G>A (p.Gly4154Asp) c.10922G>A (p.Gly3641Asp) c.13343G>A (p.Gly4448Asp) c.13325G>A (p.Gly4442Asp) c.13301G>A (p.Gly4434Asp) c.13229G>A (p.Gly4410Asp) c.13193G>A (p.Gly4398Asp) c.10046G>A (p.Gly3349Asp) c.9650G>A (p.Gly3217Asp) | dbSNP gnomAD v4 |
7 | g.152148768C>A | CA370092978 | KMT2C | c.1347G>T n.2291G>T c.13330G>T (p.Gly4444Cys) n.2459G>T n.8351G>T c.3732G>T c.10669G>T (p.Gly3557Cys) n.4789G>T c.3804G>T n.1925G>T n.1875G>T c.1576G>T (p.Gly526Cys) c.8056G>T (p.Gly2686Cys) c.13159G>T (p.Gly4387Cys) c.8946G>T c.3801G>T c.3735G>T n.7870G>T c.8059G>T (p.Gly2687Cys) c.12724G>T (p.Gly4242Cys) c.3736G>T n.2174G>T c.5840G>T c.3010G>T (p.Gly1004Cys) n.11041G>T c.*10679G>T (n.*10679G>T) c.13375G>T (p.Gly4459Cys) c.13372G>T (p.Gly4458Cys) c.13210G>T (p.Gly4404Cys) c.13303G>T (p.Gly4435Cys) c.13207G>T (p.Gly4403Cys) c.13327G>T (p.Gly4443Cys) c.13255G>T (p.Gly4419Cys) c.13222G>T (p.Gly4408Cys) c.13138G>T (p.Gly4380Cys) c.12460G>T (p.Gly4154Cys) c.10921G>T (p.Gly3641Cys) c.13342G>T (p.Gly4448Cys) c.13324G>T (p.Gly4442Cys) c.13300G>T (p.Gly4434Cys) c.13228G>T (p.Gly4410Cys) c.13192G>T (p.Gly4398Cys) c.10045G>T (p.Gly3349Cys) c.9649G>T (p.Gly3217Cys) | |
7 | g.152148768C>G | CA370092980 | KMT2C | c.1347G>C n.2291G>C c.13330G>C (p.Gly4444Arg) n.2459G>C n.8351G>C c.3732G>C c.10669G>C (p.Gly3557Arg) n.4789G>C c.3804G>C n.1925G>C n.1875G>C c.1576G>C (p.Gly526Arg) c.8056G>C (p.Gly2686Arg) c.13159G>C (p.Gly4387Arg) c.8946G>C c.3801G>C c.3735G>C n.7870G>C c.8059G>C (p.Gly2687Arg) c.12724G>C (p.Gly4242Arg) c.3736G>C n.2174G>C c.5840G>C c.3010G>C (p.Gly1004Arg) n.11041G>C c.*10679G>C (n.*10679G>C) c.13375G>C (p.Gly4459Arg) c.13372G>C (p.Gly4458Arg) c.13210G>C (p.Gly4404Arg) c.13303G>C (p.Gly4435Arg) c.13207G>C (p.Gly4403Arg) c.13327G>C (p.Gly4443Arg) c.13255G>C (p.Gly4419Arg) c.13222G>C (p.Gly4408Arg) c.13138G>C (p.Gly4380Arg) c.12460G>C (p.Gly4154Arg) c.10921G>C (p.Gly3641Arg) c.13342G>C (p.Gly4448Arg) c.13324G>C (p.Gly4442Arg) c.13300G>C (p.Gly4434Arg) c.13228G>C (p.Gly4410Arg) c.13192G>C (p.Gly4398Arg) c.10045G>C (p.Gly3349Arg) c.9649G>C (p.Gly3217Arg) | |
7 | g.152148768C>T | CA370092982 | KMT2C | c.1347G>A n.2291G>A c.13330G>A (p.Gly4444Ser) n.2459G>A n.8351G>A c.3732G>A c.10669G>A (p.Gly3557Ser) n.4789G>A c.3804G>A n.1925G>A n.1875G>A c.1576G>A (p.Gly526Ser) c.8056G>A (p.Gly2686Ser) c.13159G>A (p.Gly4387Ser) c.8946G>A c.3801G>A c.3735G>A n.7870G>A c.8059G>A (p.Gly2687Ser) c.12724G>A (p.Gly4242Ser) c.3736G>A n.2174G>A c.5840G>A c.3010G>A (p.Gly1004Ser) n.11041G>A c.*10679G>A (n.*10679G>A) c.13375G>A (p.Gly4459Ser) c.13372G>A (p.Gly4458Ser) c.13210G>A (p.Gly4404Ser) c.13303G>A (p.Gly4435Ser) c.13207G>A (p.Gly4403Ser) c.13327G>A (p.Gly4443Ser) c.13255G>A (p.Gly4419Ser) c.13222G>A (p.Gly4408Ser) c.13138G>A (p.Gly4380Ser) c.12460G>A (p.Gly4154Ser) c.10921G>A (p.Gly3641Ser) c.13342G>A (p.Gly4448Ser) c.13324G>A (p.Gly4442Ser) c.13300G>A (p.Gly4434Ser) c.13228G>A (p.Gly4410Ser) c.13192G>A (p.Gly4398Ser) c.10045G>A (p.Gly3349Ser) c.9649G>A (p.Gly3217Ser) | |
7 | g.152148769C>A | CA4578660 | KMT2C | c.1346G>T n.2290G>T c.13329G>T (p.Leu4443Phe) n.2458G>T n.8350G>T c.3731G>T c.10668G>T (p.Leu3556Phe) n.4788G>T c.3803G>T n.1924G>T n.1874G>T c.1575G>T (p.Leu525Phe) c.8055G>T (p.Leu2685Phe) c.13158G>T (p.Leu4386Phe) c.8945G>T c.3800G>T c.3734G>T n.7869G>T c.8058G>T (p.Leu2686Phe) c.12723G>T (p.Leu4241Phe) c.3735G>T n.2173G>T c.5839G>T c.3009G>T (p.Leu1003Phe) n.11040G>T c.*10678G>T (n.*10678G>T) c.13374G>T (p.Leu4458Phe) c.13371G>T (p.Leu4457Phe) c.13209G>T (p.Leu4403Phe) c.13302G>T (p.Leu4434Phe) c.13206G>T (p.Leu4402Phe) c.13326G>T (p.Leu4442Phe) c.13254G>T (p.Leu4418Phe) c.13221G>T (p.Leu4407Phe) c.13137G>T (p.Leu4379Phe) c.12459G>T (p.Leu4153Phe) c.10920G>T (p.Leu3640Phe) c.13341G>T (p.Leu4447Phe) c.13323G>T (p.Leu4441Phe) c.13299G>T (p.Leu4433Phe) c.13227G>T (p.Leu4409Phe) c.13191G>T (p.Leu4397Phe) c.10044G>T (p.Leu3348Phe) c.9648G>T (p.Leu3216Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148769C= | CA1752986278 | KMT2C | c.1346G= n.2290G= c.13329G= (p.Leu4443=) n.2458G= n.8350G= c.3731G= c.10668G= (p.Leu3556=) n.4788G= c.3803G= n.1924G= n.1874G= c.1575G= (p.Leu525=) c.8055G= (p.Leu2685=) c.13158G= (p.Leu4386=) c.8945G= c.3800G= c.3734G= n.7869G= c.8058G= (p.Leu2686=) c.12723G= (p.Leu4241=) c.3735G= n.2173G= c.5839G= c.3009G= (p.Leu1003=) n.11040G= c.*10678G= (n.*10678G=) c.13374G= (p.Leu4458=) c.13371G= (p.Leu4457=) c.13209G= (p.Leu4403=) c.13302G= (p.Leu4434=) c.13206G= (p.Leu4402=) c.13326G= (p.Leu4442=) c.13254G= (p.Leu4418=) c.13221G= (p.Leu4407=) c.13137G= (p.Leu4379=) c.12459G= (p.Leu4153=) c.10920G= (p.Leu3640=) c.13341G= (p.Leu4447=) c.13323G= (p.Leu4441=) c.13299G= (p.Leu4433=) c.13227G= (p.Leu4409=) c.13191G= (p.Leu4397=) c.10044G= (p.Leu3348=) c.9648G= (p.Leu3216=) | |
7 | g.152148769C>G | CA370092984 | KMT2C | c.1346G>C n.2290G>C c.13329G>C (p.Leu4443Phe) n.2458G>C n.8350G>C c.3731G>C c.10668G>C (p.Leu3556Phe) n.4788G>C c.3803G>C n.1924G>C n.1874G>C c.1575G>C (p.Leu525Phe) c.8055G>C (p.Leu2685Phe) c.13158G>C (p.Leu4386Phe) c.8945G>C c.3800G>C c.3734G>C n.7869G>C c.8058G>C (p.Leu2686Phe) c.12723G>C (p.Leu4241Phe) c.3735G>C n.2173G>C c.5839G>C c.3009G>C (p.Leu1003Phe) n.11040G>C c.*10678G>C (n.*10678G>C) c.13374G>C (p.Leu4458Phe) c.13371G>C (p.Leu4457Phe) c.13209G>C (p.Leu4403Phe) c.13302G>C (p.Leu4434Phe) c.13206G>C (p.Leu4402Phe) c.13326G>C (p.Leu4442Phe) c.13254G>C (p.Leu4418Phe) c.13221G>C (p.Leu4407Phe) c.13137G>C (p.Leu4379Phe) c.12459G>C (p.Leu4153Phe) c.10920G>C (p.Leu3640Phe) c.13341G>C (p.Leu4447Phe) c.13323G>C (p.Leu4441Phe) c.13299G>C (p.Leu4433Phe) c.13227G>C (p.Leu4409Phe) c.13191G>C (p.Leu4397Phe) c.10044G>C (p.Leu3348Phe) c.9648G>C (p.Leu3216Phe) | |
7 | g.152148769C>T | CA370092983 | KMT2C | c.1346G>A n.2290G>A c.13329G>A (p.Leu4443=) n.2458G>A n.8350G>A c.3731G>A c.10668G>A (p.Leu3556=) n.4788G>A c.3803G>A n.1924G>A n.1874G>A c.1575G>A (p.Leu525=) c.8055G>A (p.Leu2685=) c.13158G>A (p.Leu4386=) c.8945G>A c.3800G>A c.3734G>A n.7869G>A c.8058G>A (p.Leu2686=) c.12723G>A (p.Leu4241=) c.3735G>A n.2173G>A c.5839G>A c.3009G>A (p.Leu1003=) n.11040G>A c.*10678G>A (n.*10678G>A) c.13374G>A (p.Leu4458=) c.13371G>A (p.Leu4457=) c.13209G>A (p.Leu4403=) c.13302G>A (p.Leu4434=) c.13206G>A (p.Leu4402=) c.13326G>A (p.Leu4442=) c.13254G>A (p.Leu4418=) c.13221G>A (p.Leu4407=) c.13137G>A (p.Leu4379=) c.12459G>A (p.Leu4153=) c.10920G>A (p.Leu3640=) c.13341G>A (p.Leu4447=) c.13323G>A (p.Leu4441=) c.13299G>A (p.Leu4433=) c.13227G>A (p.Leu4409=) c.13191G>A (p.Leu4397=) c.10044G>A (p.Leu3348=) c.9648G>A (p.Leu3216=) | dbSNP gnomAD v4 |
7 | g.152148770A>C | CA370092986 | KMT2C | c.1345T>G n.2289T>G c.13328T>G (p.Leu4443Trp) n.2457T>G n.8349T>G c.3730T>G c.10667T>G (p.Leu3556Trp) n.4787T>G c.3802T>G n.1923T>G n.1873T>G c.1574T>G (p.Leu525Trp) c.8054T>G (p.Leu2685Trp) c.13157T>G (p.Leu4386Trp) c.8944T>G c.3799T>G c.3733T>G n.7868T>G c.8057T>G (p.Leu2686Trp) c.12722T>G (p.Leu4241Trp) c.3734T>G n.2172T>G c.5838T>G c.3008T>G (p.Leu1003Trp) n.11039T>G c.*10677T>G (n.*10677T>G) c.13373T>G (p.Leu4458Trp) c.13370T>G (p.Leu4457Trp) c.13208T>G (p.Leu4403Trp) c.13301T>G (p.Leu4434Trp) c.13205T>G (p.Leu4402Trp) c.13325T>G (p.Leu4442Trp) c.13253T>G (p.Leu4418Trp) c.13220T>G (p.Leu4407Trp) c.13136T>G (p.Leu4379Trp) c.12458T>G (p.Leu4153Trp) c.10919T>G (p.Leu3640Trp) c.13340T>G (p.Leu4447Trp) c.13322T>G (p.Leu4441Trp) c.13298T>G (p.Leu4433Trp) c.13226T>G (p.Leu4409Trp) c.13190T>G (p.Leu4397Trp) c.10043T>G (p.Leu3348Trp) c.9647T>G (p.Leu3216Trp) | gnomAD v4 |
7 | g.152148770A>G | CA370092987 | KMT2C | c.1345T>C n.2289T>C c.13328T>C (p.Leu4443Ser) n.2457T>C n.8349T>C c.3730T>C c.10667T>C (p.Leu3556Ser) n.4787T>C c.3802T>C n.1923T>C n.1873T>C c.1574T>C (p.Leu525Ser) c.8054T>C (p.Leu2685Ser) c.13157T>C (p.Leu4386Ser) c.8944T>C c.3799T>C c.3733T>C n.7868T>C c.8057T>C (p.Leu2686Ser) c.12722T>C (p.Leu4241Ser) c.3734T>C n.2172T>C c.5838T>C c.3008T>C (p.Leu1003Ser) n.11039T>C c.*10677T>C (n.*10677T>C) c.13373T>C (p.Leu4458Ser) c.13370T>C (p.Leu4457Ser) c.13208T>C (p.Leu4403Ser) c.13301T>C (p.Leu4434Ser) c.13205T>C (p.Leu4402Ser) c.13325T>C (p.Leu4442Ser) c.13253T>C (p.Leu4418Ser) c.13220T>C (p.Leu4407Ser) c.13136T>C (p.Leu4379Ser) c.12458T>C (p.Leu4153Ser) c.10919T>C (p.Leu3640Ser) c.13340T>C (p.Leu4447Ser) c.13322T>C (p.Leu4441Ser) c.13298T>C (p.Leu4433Ser) c.13226T>C (p.Leu4409Ser) c.13190T>C (p.Leu4397Ser) c.10043T>C (p.Leu3348Ser) c.9647T>C (p.Leu3216Ser) | |
7 | g.152148770A>T | CA370092988 | KMT2C | c.1345T>A n.2289T>A c.13328T>A (p.Leu4443Ter) n.2457T>A n.8349T>A c.3730T>A c.10667T>A (p.Leu3556Ter) n.4787T>A c.3802T>A n.1923T>A n.1873T>A c.1574T>A (p.Leu525Ter) c.8054T>A (p.Leu2685Ter) c.13157T>A (p.Leu4386Ter) c.8944T>A c.3799T>A c.3733T>A n.7868T>A c.8057T>A (p.Leu2686Ter) c.12722T>A (p.Leu4241Ter) c.3734T>A n.2172T>A c.5838T>A c.3008T>A (p.Leu1003Ter) n.11039T>A c.*10677T>A (n.*10677T>A) c.13373T>A (p.Leu4458Ter) c.13370T>A (p.Leu4457Ter) c.13208T>A (p.Leu4403Ter) c.13301T>A (p.Leu4434Ter) c.13205T>A (p.Leu4402Ter) c.13325T>A (p.Leu4442Ter) c.13253T>A (p.Leu4418Ter) c.13220T>A (p.Leu4407Ter) c.13136T>A (p.Leu4379Ter) c.12458T>A (p.Leu4153Ter) c.10919T>A (p.Leu3640Ter) c.13340T>A (p.Leu4447Ter) c.13322T>A (p.Leu4441Ter) c.13298T>A (p.Leu4433Ter) c.13226T>A (p.Leu4409Ter) c.13190T>A (p.Leu4397Ter) c.10043T>A (p.Leu3348Ter) c.9647T>A (p.Leu3216Ter) | |
7 | g.152148771A>C | CA370092990 | KMT2C | c.1344T>G n.2288T>G c.13327T>G (p.Leu4443Val) n.2456T>G n.8348T>G c.3729T>G c.10666T>G (p.Leu3556Val) n.4786T>G c.3801T>G n.1922T>G n.1872T>G c.1573T>G (p.Leu525Val) c.8053T>G (p.Leu2685Val) c.13156T>G (p.Leu4386Val) c.8943T>G c.3798T>G c.3732T>G n.7867T>G c.8056T>G (p.Leu2686Val) c.12721T>G (p.Leu4241Val) c.3733T>G n.2171T>G c.5837T>G c.3007T>G (p.Leu1003Val) n.11038T>G c.*10676T>G (n.*10676T>G) c.13372T>G (p.Leu4458Val) c.13369T>G (p.Leu4457Val) c.13207T>G (p.Leu4403Val) c.13300T>G (p.Leu4434Val) c.13204T>G (p.Leu4402Val) c.13324T>G (p.Leu4442Val) c.13252T>G (p.Leu4418Val) c.13219T>G (p.Leu4407Val) c.13135T>G (p.Leu4379Val) c.12457T>G (p.Leu4153Val) c.10918T>G (p.Leu3640Val) c.13339T>G (p.Leu4447Val) c.13321T>G (p.Leu4441Val) c.13297T>G (p.Leu4433Val) c.13225T>G (p.Leu4409Val) c.13189T>G (p.Leu4397Val) c.10042T>G (p.Leu3348Val) c.9646T>G (p.Leu3216Val) | |
7 | g.152148771A>G | CA458884683 | KMT2C | c.1344T>C n.2288T>C c.13327T>C (p.Leu4443=) n.2456T>C n.8348T>C c.3729T>C c.10666T>C (p.Leu3556=) n.4786T>C c.3801T>C n.1922T>C n.1872T>C c.1573T>C (p.Leu525=) c.8053T>C (p.Leu2685=) c.13156T>C (p.Leu4386=) c.8943T>C c.3798T>C c.3732T>C n.7867T>C c.8056T>C (p.Leu2686=) c.12721T>C (p.Leu4241=) c.3733T>C n.2171T>C c.5837T>C c.3007T>C (p.Leu1003=) n.11038T>C c.*10676T>C (n.*10676T>C) c.13372T>C (p.Leu4458=) c.13369T>C (p.Leu4457=) c.13207T>C (p.Leu4403=) c.13300T>C (p.Leu4434=) c.13204T>C (p.Leu4402=) c.13324T>C (p.Leu4442=) c.13252T>C (p.Leu4418=) c.13219T>C (p.Leu4407=) c.13135T>C (p.Leu4379=) c.12457T>C (p.Leu4153=) c.10918T>C (p.Leu3640=) c.13339T>C (p.Leu4447=) c.13321T>C (p.Leu4441=) c.13297T>C (p.Leu4433=) c.13225T>C (p.Leu4409=) c.13189T>C (p.Leu4397=) c.10042T>C (p.Leu3348=) c.9646T>C (p.Leu3216=) | gnomAD v4 |
7 | g.152148771A>T | CA370092992 | KMT2C | c.1344T>A n.2288T>A c.13327T>A (p.Leu4443Met) n.2456T>A n.8348T>A c.3729T>A c.10666T>A (p.Leu3556Met) n.4786T>A c.3801T>A n.1922T>A n.1872T>A c.1573T>A (p.Leu525Met) c.8053T>A (p.Leu2685Met) c.13156T>A (p.Leu4386Met) c.8943T>A c.3798T>A c.3732T>A n.7867T>A c.8056T>A (p.Leu2686Met) c.12721T>A (p.Leu4241Met) c.3733T>A n.2171T>A c.5837T>A c.3007T>A (p.Leu1003Met) n.11038T>A c.*10676T>A (n.*10676T>A) c.13372T>A (p.Leu4458Met) c.13369T>A (p.Leu4457Met) c.13207T>A (p.Leu4403Met) c.13300T>A (p.Leu4434Met) c.13204T>A (p.Leu4402Met) c.13324T>A (p.Leu4442Met) c.13252T>A (p.Leu4418Met) c.13219T>A (p.Leu4407Met) c.13135T>A (p.Leu4379Met) c.12457T>A (p.Leu4153Met) c.10918T>A (p.Leu3640Met) c.13339T>A (p.Leu4447Met) c.13321T>A (p.Leu4441Met) c.13297T>A (p.Leu4433Met) c.13225T>A (p.Leu4409Met) c.13189T>A (p.Leu4397Met) c.10042T>A (p.Leu3348Met) c.9646T>A (p.Leu3216Met) | |
7 | g.152148772T>A | CA370092993 | KMT2C | c.1343A>T n.2287A>T c.13326A>T (p.Lys4442Asn) n.2455A>T n.8347A>T c.3728A>T c.10665A>T (p.Lys3555Asn) n.4785A>T c.3800A>T n.1921A>T n.1871A>T c.1572A>T (p.Lys524Asn) c.8052A>T (p.Lys2684Asn) c.13155A>T (p.Lys4385Asn) c.8942A>T c.3797A>T c.3731A>T n.7866A>T c.8055A>T (p.Lys2685Asn) c.12720A>T (p.Lys4240Asn) c.3732A>T n.2170A>T c.5836A>T c.3006A>T (p.Lys1002Asn) n.11037A>T c.*10675A>T (n.*10675A>T) c.13371A>T (p.Lys4457Asn) c.13368A>T (p.Lys4456Asn) c.13206A>T (p.Lys4402Asn) c.13299A>T (p.Lys4433Asn) c.13203A>T (p.Lys4401Asn) c.13323A>T (p.Lys4441Asn) c.13251A>T (p.Lys4417Asn) c.13218A>T (p.Lys4406Asn) c.13134A>T (p.Lys4378Asn) c.12456A>T (p.Lys4152Asn) c.10917A>T (p.Lys3639Asn) c.13338A>T (p.Lys4446Asn) c.13320A>T (p.Lys4440Asn) c.13296A>T (p.Lys4432Asn) c.13224A>T (p.Lys4408Asn) c.13188A>T (p.Lys4396Asn) c.10041A>T (p.Lys3347Asn) c.9645A>T (p.Lys3215Asn) | |
7 | g.152148772T>C | CA458884684 | KMT2C | c.1343A>G n.2287A>G c.13326A>G (p.Lys4442=) n.2455A>G n.8347A>G c.3728A>G c.10665A>G (p.Lys3555=) n.4785A>G c.3800A>G n.1921A>G n.1871A>G c.1572A>G (p.Lys524=) c.8052A>G (p.Lys2684=) c.13155A>G (p.Lys4385=) c.8942A>G c.3797A>G c.3731A>G n.7866A>G c.8055A>G (p.Lys2685=) c.12720A>G (p.Lys4240=) c.3732A>G n.2170A>G c.5836A>G c.3006A>G (p.Lys1002=) n.11037A>G c.*10675A>G (n.*10675A>G) c.13371A>G (p.Lys4457=) c.13368A>G (p.Lys4456=) c.13206A>G (p.Lys4402=) c.13299A>G (p.Lys4433=) c.13203A>G (p.Lys4401=) c.13323A>G (p.Lys4441=) c.13251A>G (p.Lys4417=) c.13218A>G (p.Lys4406=) c.13134A>G (p.Lys4378=) c.12456A>G (p.Lys4152=) c.10917A>G (p.Lys3639=) c.13338A>G (p.Lys4446=) c.13320A>G (p.Lys4440=) c.13296A>G (p.Lys4432=) c.13224A>G (p.Lys4408=) c.13188A>G (p.Lys4396=) c.10041A>G (p.Lys3347=) c.9645A>G (p.Lys3215=) | |
7 | g.152148772T>G | CA370092994 | KMT2C | c.1343A>C n.2287A>C c.13326A>C (p.Lys4442Asn) n.2455A>C n.8347A>C c.3728A>C c.10665A>C (p.Lys3555Asn) n.4785A>C c.3800A>C n.1921A>C n.1871A>C c.1572A>C (p.Lys524Asn) c.8052A>C (p.Lys2684Asn) c.13155A>C (p.Lys4385Asn) c.8942A>C c.3797A>C c.3731A>C n.7866A>C c.8055A>C (p.Lys2685Asn) c.12720A>C (p.Lys4240Asn) c.3732A>C n.2170A>C c.5836A>C c.3006A>C (p.Lys1002Asn) n.11037A>C c.*10675A>C (n.*10675A>C) c.13371A>C (p.Lys4457Asn) c.13368A>C (p.Lys4456Asn) c.13206A>C (p.Lys4402Asn) c.13299A>C (p.Lys4433Asn) c.13203A>C (p.Lys4401Asn) c.13323A>C (p.Lys4441Asn) c.13251A>C (p.Lys4417Asn) c.13218A>C (p.Lys4406Asn) c.13134A>C (p.Lys4378Asn) c.12456A>C (p.Lys4152Asn) c.10917A>C (p.Lys3639Asn) c.13338A>C (p.Lys4446Asn) c.13320A>C (p.Lys4440Asn) c.13296A>C (p.Lys4432Asn) c.13224A>C (p.Lys4408Asn) c.13188A>C (p.Lys4396Asn) c.10041A>C (p.Lys3347Asn) c.9645A>C (p.Lys3215Asn) | |
7 | g.152148773T>A | CA16618420 | KMT2C | c.1342A>T n.2286A>T c.13325A>T (p.Lys4442Ile) n.2454A>T n.8346A>T c.3727A>T c.10664A>T (p.Lys3555Ile) n.4784A>T c.3799A>T n.1920A>T n.1870A>T c.1571A>T (p.Lys524Ile) c.8051A>T (p.Lys2684Ile) c.13154A>T (p.Lys4385Ile) c.8941A>T c.3796A>T c.3730A>T n.7865A>T c.8054A>T (p.Lys2685Ile) c.12719A>T (p.Lys4240Ile) c.3731A>T n.2169A>T c.5835A>T c.3005A>T (p.Lys1002Ile) n.11036A>T c.*10674A>T (n.*10674A>T) c.13370A>T (p.Lys4457Ile) c.13367A>T (p.Lys4456Ile) c.13205A>T (p.Lys4402Ile) c.13298A>T (p.Lys4433Ile) c.13202A>T (p.Lys4401Ile) c.13322A>T (p.Lys4441Ile) c.13250A>T (p.Lys4417Ile) c.13217A>T (p.Lys4406Ile) c.13133A>T (p.Lys4378Ile) c.12455A>T (p.Lys4152Ile) c.10916A>T (p.Lys3639Ile) c.13337A>T (p.Lys4446Ile) c.13319A>T (p.Lys4440Ile) c.13295A>T (p.Lys4432Ile) c.13223A>T (p.Lys4408Ile) c.13187A>T (p.Lys4396Ile) c.10040A>T (p.Lys3347Ile) c.9644A>T (p.Lys3215Ile) | ClinVar dbSNP |
7 | g.152148773T>C | CA370092996 | KMT2C | c.1342A>G n.2286A>G c.13325A>G (p.Lys4442Arg) n.2454A>G n.8346A>G c.3727A>G c.10664A>G (p.Lys3555Arg) n.4784A>G c.3799A>G n.1920A>G n.1870A>G c.1571A>G (p.Lys524Arg) c.8051A>G (p.Lys2684Arg) c.13154A>G (p.Lys4385Arg) c.8941A>G c.3796A>G c.3730A>G n.7865A>G c.8054A>G (p.Lys2685Arg) c.12719A>G (p.Lys4240Arg) c.3731A>G n.2169A>G c.5835A>G c.3005A>G (p.Lys1002Arg) n.11036A>G c.*10674A>G (n.*10674A>G) c.13370A>G (p.Lys4457Arg) c.13367A>G (p.Lys4456Arg) c.13205A>G (p.Lys4402Arg) c.13298A>G (p.Lys4433Arg) c.13202A>G (p.Lys4401Arg) c.13322A>G (p.Lys4441Arg) c.13250A>G (p.Lys4417Arg) c.13217A>G (p.Lys4406Arg) c.13133A>G (p.Lys4378Arg) c.12455A>G (p.Lys4152Arg) c.10916A>G (p.Lys3639Arg) c.13337A>G (p.Lys4446Arg) c.13319A>G (p.Lys4440Arg) c.13295A>G (p.Lys4432Arg) c.13223A>G (p.Lys4408Arg) c.13187A>G (p.Lys4396Arg) c.10040A>G (p.Lys3347Arg) c.9644A>G (p.Lys3215Arg) | |
7 | g.152148773T>G | CA370092998 | KMT2C | c.1342A>C n.2286A>C c.13325A>C (p.Lys4442Thr) n.2454A>C n.8346A>C c.3727A>C c.10664A>C (p.Lys3555Thr) n.4784A>C c.3799A>C n.1920A>C n.1870A>C c.1571A>C (p.Lys524Thr) c.8051A>C (p.Lys2684Thr) c.13154A>C (p.Lys4385Thr) c.8941A>C c.3796A>C c.3730A>C n.7865A>C c.8054A>C (p.Lys2685Thr) c.12719A>C (p.Lys4240Thr) c.3731A>C n.2169A>C c.5835A>C c.3005A>C (p.Lys1002Thr) n.11036A>C c.*10674A>C (n.*10674A>C) c.13370A>C (p.Lys4457Thr) c.13367A>C (p.Lys4456Thr) c.13205A>C (p.Lys4402Thr) c.13298A>C (p.Lys4433Thr) c.13202A>C (p.Lys4401Thr) c.13322A>C (p.Lys4441Thr) c.13250A>C (p.Lys4417Thr) c.13217A>C (p.Lys4406Thr) c.13133A>C (p.Lys4378Thr) c.12455A>C (p.Lys4152Thr) c.10916A>C (p.Lys3639Thr) c.13337A>C (p.Lys4446Thr) c.13319A>C (p.Lys4440Thr) c.13295A>C (p.Lys4432Thr) c.13223A>C (p.Lys4408Thr) c.13187A>C (p.Lys4396Thr) c.10040A>C (p.Lys3347Thr) c.9644A>C (p.Lys3215Thr) | |
7 | g.152148773T= | CA1752986289 | KMT2C | c.1342A= n.2286A= c.13325A= (p.Lys4442=) n.2454A= n.8346A= c.3727A= c.10664A= (p.Lys3555=) n.4784A= c.3799A= n.1920A= n.1870A= c.1571A= (p.Lys524=) c.8051A= (p.Lys2684=) c.13154A= (p.Lys4385=) c.8941A= c.3796A= c.3730A= n.7865A= c.8054A= (p.Lys2685=) c.12719A= (p.Lys4240=) c.3731A= n.2169A= c.5835A= c.3005A= (p.Lys1002=) n.11036A= c.*10674A= (n.*10674A=) c.13370A= (p.Lys4457=) c.13367A= (p.Lys4456=) c.13205A= (p.Lys4402=) c.13298A= (p.Lys4433=) c.13202A= (p.Lys4401=) c.13322A= (p.Lys4441=) c.13250A= (p.Lys4417=) c.13217A= (p.Lys4406=) c.13133A= (p.Lys4378=) c.12455A= (p.Lys4152=) c.10916A= (p.Lys3639=) c.13337A= (p.Lys4446=) c.13319A= (p.Lys4440=) c.13295A= (p.Lys4432=) c.13223A= (p.Lys4408=) c.13187A= (p.Lys4396=) c.10040A= (p.Lys3347=) c.9644A= (p.Lys3215=) | |
7 | g.152148774T>A | CA370092999 | KMT2C | c.1341A>T n.2285A>T c.13324A>T (p.Lys4442Ter) n.2453A>T n.8345A>T c.3726A>T c.10663A>T (p.Lys3555Ter) n.4783A>T c.3798A>T n.1919A>T n.1869A>T c.1570A>T (p.Lys524Ter) c.8050A>T (p.Lys2684Ter) c.13153A>T (p.Lys4385Ter) c.8940A>T c.3795A>T c.3729A>T n.7864A>T c.8053A>T (p.Lys2685Ter) c.12718A>T (p.Lys4240Ter) c.3730A>T n.2168A>T c.5834A>T c.3004A>T (p.Lys1002Ter) n.11035A>T c.*10673A>T (n.*10673A>T) c.13369A>T (p.Lys4457Ter) c.13366A>T (p.Lys4456Ter) c.13204A>T (p.Lys4402Ter) c.13297A>T (p.Lys4433Ter) c.13201A>T (p.Lys4401Ter) c.13321A>T (p.Lys4441Ter) c.13249A>T (p.Lys4417Ter) c.13216A>T (p.Lys4406Ter) c.13132A>T (p.Lys4378Ter) c.12454A>T (p.Lys4152Ter) c.10915A>T (p.Lys3639Ter) c.13336A>T (p.Lys4446Ter) c.13318A>T (p.Lys4440Ter) c.13294A>T (p.Lys4432Ter) c.13222A>T (p.Lys4408Ter) c.13186A>T (p.Lys4396Ter) c.10039A>T (p.Lys3347Ter) c.9643A>T (p.Lys3215Ter) | |
7 | g.152148774T>C | CA370093000 | KMT2C | c.1341A>G n.2285A>G c.13324A>G (p.Lys4442Glu) n.2453A>G n.8345A>G c.3726A>G c.10663A>G (p.Lys3555Glu) n.4783A>G c.3798A>G n.1919A>G n.1869A>G c.1570A>G (p.Lys524Glu) c.8050A>G (p.Lys2684Glu) c.13153A>G (p.Lys4385Glu) c.8940A>G c.3795A>G c.3729A>G n.7864A>G c.8053A>G (p.Lys2685Glu) c.12718A>G (p.Lys4240Glu) c.3730A>G n.2168A>G c.5834A>G c.3004A>G (p.Lys1002Glu) n.11035A>G c.*10673A>G (n.*10673A>G) c.13369A>G (p.Lys4457Glu) c.13366A>G (p.Lys4456Glu) c.13204A>G (p.Lys4402Glu) c.13297A>G (p.Lys4433Glu) c.13201A>G (p.Lys4401Glu) c.13321A>G (p.Lys4441Glu) c.13249A>G (p.Lys4417Glu) c.13216A>G (p.Lys4406Glu) c.13132A>G (p.Lys4378Glu) c.12454A>G (p.Lys4152Glu) c.10915A>G (p.Lys3639Glu) c.13336A>G (p.Lys4446Glu) c.13318A>G (p.Lys4440Glu) c.13294A>G (p.Lys4432Glu) c.13222A>G (p.Lys4408Glu) c.13186A>G (p.Lys4396Glu) c.10039A>G (p.Lys3347Glu) c.9643A>G (p.Lys3215Glu) | dbSNP |
7 | g.152148774T>G | CA370093001 | KMT2C | c.1341A>C n.2285A>C c.13324A>C (p.Lys4442Gln) n.2453A>C n.8345A>C c.3726A>C c.10663A>C (p.Lys3555Gln) n.4783A>C c.3798A>C n.1919A>C n.1869A>C c.1570A>C (p.Lys524Gln) c.8050A>C (p.Lys2684Gln) c.13153A>C (p.Lys4385Gln) c.8940A>C c.3795A>C c.3729A>C n.7864A>C c.8053A>C (p.Lys2685Gln) c.12718A>C (p.Lys4240Gln) c.3730A>C n.2168A>C c.5834A>C c.3004A>C (p.Lys1002Gln) n.11035A>C c.*10673A>C (n.*10673A>C) c.13369A>C (p.Lys4457Gln) c.13366A>C (p.Lys4456Gln) c.13204A>C (p.Lys4402Gln) c.13297A>C (p.Lys4433Gln) c.13201A>C (p.Lys4401Gln) c.13321A>C (p.Lys4441Gln) c.13249A>C (p.Lys4417Gln) c.13216A>C (p.Lys4406Gln) c.13132A>C (p.Lys4378Gln) c.12454A>C (p.Lys4152Gln) c.10915A>C (p.Lys3639Gln) c.13336A>C (p.Lys4446Gln) c.13318A>C (p.Lys4440Gln) c.13294A>C (p.Lys4432Gln) c.13222A>C (p.Lys4408Gln) c.13186A>C (p.Lys4396Gln) c.10039A>C (p.Lys3347Gln) c.9643A>C (p.Lys3215Gln) | |
7 | g.152148774T= | CA1752986294 | KMT2C | c.1341A= n.2285A= c.13324A= (p.Lys4442=) n.2453A= n.8345A= c.3726A= c.10663A= (p.Lys3555=) n.4783A= c.3798A= n.1919A= n.1869A= c.1570A= (p.Lys524=) c.8050A= (p.Lys2684=) c.13153A= (p.Lys4385=) c.8940A= c.3795A= c.3729A= n.7864A= c.8053A= (p.Lys2685=) c.12718A= (p.Lys4240=) c.3730A= n.2168A= c.5834A= c.3004A= (p.Lys1002=) n.11035A= c.*10673A= (n.*10673A=) c.13369A= (p.Lys4457=) c.13366A= (p.Lys4456=) c.13204A= (p.Lys4402=) c.13297A= (p.Lys4433=) c.13201A= (p.Lys4401=) c.13321A= (p.Lys4441=) c.13249A= (p.Lys4417=) c.13216A= (p.Lys4406=) c.13132A= (p.Lys4378=) c.12454A= (p.Lys4152=) c.10915A= (p.Lys3639=) c.13336A= (p.Lys4446=) c.13318A= (p.Lys4440=) c.13294A= (p.Lys4432=) c.13222A= (p.Lys4408=) c.13186A= (p.Lys4396=) c.10039A= (p.Lys3347=) c.9643A= (p.Lys3215=) | |
7 | g.152148775C>A | CA370093004 | KMT2C | c.1340G>T n.2284G>T c.13323G>T (p.Lys4441Asn) n.2452G>T n.8344G>T c.3725G>T c.10662G>T (p.Lys3554Asn) n.4782G>T c.3797G>T n.1918G>T n.1868G>T c.1569G>T (p.Lys523Asn) c.8049G>T (p.Lys2683Asn) c.13152G>T (p.Lys4384Asn) c.8939G>T c.3794G>T c.3728G>T n.7863G>T c.8052G>T (p.Lys2684Asn) c.12717G>T (p.Lys4239Asn) c.3729G>T n.2167G>T c.5833G>T c.3003G>T (p.Lys1001Asn) n.11034G>T c.*10672G>T (n.*10672G>T) c.13368G>T (p.Lys4456Asn) c.13365G>T (p.Lys4455Asn) c.13203G>T (p.Lys4401Asn) c.13296G>T (p.Lys4432Asn) c.13200G>T (p.Lys4400Asn) c.13320G>T (p.Lys4440Asn) c.13248G>T (p.Lys4416Asn) c.13215G>T (p.Lys4405Asn) c.13131G>T (p.Lys4377Asn) c.12453G>T (p.Lys4151Asn) c.10914G>T (p.Lys3638Asn) c.13335G>T (p.Lys4445Asn) c.13317G>T (p.Lys4439Asn) c.13293G>T (p.Lys4431Asn) c.13221G>T (p.Lys4407Asn) c.13185G>T (p.Lys4395Asn) c.10038G>T (p.Lys3346Asn) c.9642G>T (p.Lys3214Asn) | |
7 | g.152148775C>G | CA370093003 | KMT2C | c.1340G>C n.2284G>C c.13323G>C (p.Lys4441Asn) n.2452G>C n.8344G>C c.3725G>C c.10662G>C (p.Lys3554Asn) n.4782G>C c.3797G>C n.1918G>C n.1868G>C c.1569G>C (p.Lys523Asn) c.8049G>C (p.Lys2683Asn) c.13152G>C (p.Lys4384Asn) c.8939G>C c.3794G>C c.3728G>C n.7863G>C c.8052G>C (p.Lys2684Asn) c.12717G>C (p.Lys4239Asn) c.3729G>C n.2167G>C c.5833G>C c.3003G>C (p.Lys1001Asn) n.11034G>C c.*10672G>C (n.*10672G>C) c.13368G>C (p.Lys4456Asn) c.13365G>C (p.Lys4455Asn) c.13203G>C (p.Lys4401Asn) c.13296G>C (p.Lys4432Asn) c.13200G>C (p.Lys4400Asn) c.13320G>C (p.Lys4440Asn) c.13248G>C (p.Lys4416Asn) c.13215G>C (p.Lys4405Asn) c.13131G>C (p.Lys4377Asn) c.12453G>C (p.Lys4151Asn) c.10914G>C (p.Lys3638Asn) c.13335G>C (p.Lys4445Asn) c.13317G>C (p.Lys4439Asn) c.13293G>C (p.Lys4431Asn) c.13221G>C (p.Lys4407Asn) c.13185G>C (p.Lys4395Asn) c.10038G>C (p.Lys3346Asn) c.9642G>C (p.Lys3214Asn) | |
7 | g.152148775C>T | CA458884689 | KMT2C | c.1340G>A n.2284G>A c.13323G>A (p.Lys4441=) n.2452G>A n.8344G>A c.3725G>A c.10662G>A (p.Lys3554=) n.4782G>A c.3797G>A n.1918G>A n.1868G>A c.1569G>A (p.Lys523=) c.8049G>A (p.Lys2683=) c.13152G>A (p.Lys4384=) c.8939G>A c.3794G>A c.3728G>A n.7863G>A c.8052G>A (p.Lys2684=) c.12717G>A (p.Lys4239=) c.3729G>A n.2167G>A c.5833G>A c.3003G>A (p.Lys1001=) n.11034G>A c.*10672G>A (n.*10672G>A) c.13368G>A (p.Lys4456=) c.13365G>A (p.Lys4455=) c.13203G>A (p.Lys4401=) c.13296G>A (p.Lys4432=) c.13200G>A (p.Lys4400=) c.13320G>A (p.Lys4440=) c.13248G>A (p.Lys4416=) c.13215G>A (p.Lys4405=) c.13131G>A (p.Lys4377=) c.12453G>A (p.Lys4151=) c.10914G>A (p.Lys3638=) c.13335G>A (p.Lys4445=) c.13317G>A (p.Lys4439=) c.13293G>A (p.Lys4431=) c.13221G>A (p.Lys4407=) c.13185G>A (p.Lys4395=) c.10038G>A (p.Lys3346=) c.9642G>A (p.Lys3214=) | gnomAD v4 |
7 | g.152148776T>A | CA370093007 | KMT2C | c.1339A>T n.2283A>T c.13322A>T (p.Lys4441Met) n.2451A>T n.8343A>T c.3724A>T c.10661A>T (p.Lys3554Met) n.4781A>T c.3796A>T n.1917A>T n.1867A>T c.1568A>T (p.Lys523Met) c.8048A>T (p.Lys2683Met) c.13151A>T (p.Lys4384Met) c.8938A>T c.3793A>T c.3727A>T n.7862A>T c.8051A>T (p.Lys2684Met) c.12716A>T (p.Lys4239Met) c.3728A>T n.2166A>T c.5832A>T c.3002A>T (p.Lys1001Met) n.11033A>T c.*10671A>T (n.*10671A>T) c.13367A>T (p.Lys4456Met) c.13364A>T (p.Lys4455Met) c.13202A>T (p.Lys4401Met) c.13295A>T (p.Lys4432Met) c.13199A>T (p.Lys4400Met) c.13319A>T (p.Lys4440Met) c.13247A>T (p.Lys4416Met) c.13214A>T (p.Lys4405Met) c.13130A>T (p.Lys4377Met) c.12452A>T (p.Lys4151Met) c.10913A>T (p.Lys3638Met) c.13334A>T (p.Lys4445Met) c.13316A>T (p.Lys4439Met) c.13292A>T (p.Lys4431Met) c.13220A>T (p.Lys4407Met) c.13184A>T (p.Lys4395Met) c.10037A>T (p.Lys3346Met) c.9641A>T (p.Lys3214Met) | |
7 | g.152148776T>C | CA4578661 | KMT2C | c.1339A>G n.2283A>G c.13322A>G (p.Lys4441Arg) n.2451A>G n.8343A>G c.3724A>G c.10661A>G (p.Lys3554Arg) n.4781A>G c.3796A>G n.1917A>G n.1867A>G c.1568A>G (p.Lys523Arg) c.8048A>G (p.Lys2683Arg) c.13151A>G (p.Lys4384Arg) c.8938A>G c.3793A>G c.3727A>G n.7862A>G c.8051A>G (p.Lys2684Arg) c.12716A>G (p.Lys4239Arg) c.3728A>G n.2166A>G c.5832A>G c.3002A>G (p.Lys1001Arg) n.11033A>G c.*10671A>G (n.*10671A>G) c.13367A>G (p.Lys4456Arg) c.13364A>G (p.Lys4455Arg) c.13202A>G (p.Lys4401Arg) c.13295A>G (p.Lys4432Arg) c.13199A>G (p.Lys4400Arg) c.13319A>G (p.Lys4440Arg) c.13247A>G (p.Lys4416Arg) c.13214A>G (p.Lys4405Arg) c.13130A>G (p.Lys4377Arg) c.12452A>G (p.Lys4151Arg) c.10913A>G (p.Lys3638Arg) c.13334A>G (p.Lys4445Arg) c.13316A>G (p.Lys4439Arg) c.13292A>G (p.Lys4431Arg) c.13220A>G (p.Lys4407Arg) c.13184A>G (p.Lys4395Arg) c.10037A>G (p.Lys3346Arg) c.9641A>G (p.Lys3214Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148776T>G | CA370093009 | KMT2C | c.1339A>C n.2283A>C c.13322A>C (p.Lys4441Thr) n.2451A>C n.8343A>C c.3724A>C c.10661A>C (p.Lys3554Thr) n.4781A>C c.3796A>C n.1917A>C n.1867A>C c.1568A>C (p.Lys523Thr) c.8048A>C (p.Lys2683Thr) c.13151A>C (p.Lys4384Thr) c.8938A>C c.3793A>C c.3727A>C n.7862A>C c.8051A>C (p.Lys2684Thr) c.12716A>C (p.Lys4239Thr) c.3728A>C n.2166A>C c.5832A>C c.3002A>C (p.Lys1001Thr) n.11033A>C c.*10671A>C (n.*10671A>C) c.13367A>C (p.Lys4456Thr) c.13364A>C (p.Lys4455Thr) c.13202A>C (p.Lys4401Thr) c.13295A>C (p.Lys4432Thr) c.13199A>C (p.Lys4400Thr) c.13319A>C (p.Lys4440Thr) c.13247A>C (p.Lys4416Thr) c.13214A>C (p.Lys4405Thr) c.13130A>C (p.Lys4377Thr) c.12452A>C (p.Lys4151Thr) c.10913A>C (p.Lys3638Thr) c.13334A>C (p.Lys4445Thr) c.13316A>C (p.Lys4439Thr) c.13292A>C (p.Lys4431Thr) c.13220A>C (p.Lys4407Thr) c.13184A>C (p.Lys4395Thr) c.10037A>C (p.Lys3346Thr) c.9641A>C (p.Lys3214Thr) | |
7 | g.152148776T= | CA1752986299 | KMT2C | c.1339A= n.2283A= c.13322A= (p.Lys4441=) n.2451A= n.8343A= c.3724A= c.10661A= (p.Lys3554=) n.4781A= c.3796A= n.1917A= n.1867A= c.1568A= (p.Lys523=) c.8048A= (p.Lys2683=) c.13151A= (p.Lys4384=) c.8938A= c.3793A= c.3727A= n.7862A= c.8051A= (p.Lys2684=) c.12716A= (p.Lys4239=) c.3728A= n.2166A= c.5832A= c.3002A= (p.Lys1001=) n.11033A= c.*10671A= (n.*10671A=) c.13367A= (p.Lys4456=) c.13364A= (p.Lys4455=) c.13202A= (p.Lys4401=) c.13295A= (p.Lys4432=) c.13199A= (p.Lys4400=) c.13319A= (p.Lys4440=) c.13247A= (p.Lys4416=) c.13214A= (p.Lys4405=) c.13130A= (p.Lys4377=) c.12452A= (p.Lys4151=) c.10913A= (p.Lys3638=) c.13334A= (p.Lys4445=) c.13316A= (p.Lys4439=) c.13292A= (p.Lys4431=) c.13220A= (p.Lys4407=) c.13184A= (p.Lys4395=) c.10037A= (p.Lys3346=) c.9641A= (p.Lys3214=) | |
7 | g.152148777T>A | CA370093010 | KMT2C | c.1338A>T n.2282A>T c.13321A>T (p.Lys4441Ter) n.2450A>T n.8342A>T c.3723A>T c.10660A>T (p.Lys3554Ter) n.4780A>T c.3795A>T n.1916A>T n.1866A>T c.1567A>T (p.Lys523Ter) c.8047A>T (p.Lys2683Ter) c.13150A>T (p.Lys4384Ter) c.8937A>T c.3792A>T c.3726A>T n.7861A>T c.8050A>T (p.Lys2684Ter) c.12715A>T (p.Lys4239Ter) c.3727A>T n.2165A>T c.5831A>T c.3001A>T (p.Lys1001Ter) n.11032A>T c.*10670A>T (n.*10670A>T) c.13366A>T (p.Lys4456Ter) c.13363A>T (p.Lys4455Ter) c.13201A>T (p.Lys4401Ter) c.13294A>T (p.Lys4432Ter) c.13198A>T (p.Lys4400Ter) c.13318A>T (p.Lys4440Ter) c.13246A>T (p.Lys4416Ter) c.13213A>T (p.Lys4405Ter) c.13129A>T (p.Lys4377Ter) c.12451A>T (p.Lys4151Ter) c.10912A>T (p.Lys3638Ter) c.13333A>T (p.Lys4445Ter) c.13315A>T (p.Lys4439Ter) c.13291A>T (p.Lys4431Ter) c.13219A>T (p.Lys4407Ter) c.13183A>T (p.Lys4395Ter) c.10036A>T (p.Lys3346Ter) c.9640A>T (p.Lys3214Ter) | |
7 | g.152148777T>C | CA4578662 | KMT2C | c.1338A>G n.2282A>G c.13321A>G (p.Lys4441Glu) n.2450A>G n.8342A>G c.3723A>G c.10660A>G (p.Lys3554Glu) n.4780A>G c.3795A>G n.1916A>G n.1866A>G c.1567A>G (p.Lys523Glu) c.8047A>G (p.Lys2683Glu) c.13150A>G (p.Lys4384Glu) c.8937A>G c.3792A>G c.3726A>G n.7861A>G c.8050A>G (p.Lys2684Glu) c.12715A>G (p.Lys4239Glu) c.3727A>G n.2165A>G c.5831A>G c.3001A>G (p.Lys1001Glu) n.11032A>G c.*10670A>G (n.*10670A>G) c.13366A>G (p.Lys4456Glu) c.13363A>G (p.Lys4455Glu) c.13201A>G (p.Lys4401Glu) c.13294A>G (p.Lys4432Glu) c.13198A>G (p.Lys4400Glu) c.13318A>G (p.Lys4440Glu) c.13246A>G (p.Lys4416Glu) c.13213A>G (p.Lys4405Glu) c.13129A>G (p.Lys4377Glu) c.12451A>G (p.Lys4151Glu) c.10912A>G (p.Lys3638Glu) c.13333A>G (p.Lys4445Glu) c.13315A>G (p.Lys4439Glu) c.13291A>G (p.Lys4431Glu) c.13219A>G (p.Lys4407Glu) c.13183A>G (p.Lys4395Glu) c.10036A>G (p.Lys3346Glu) c.9640A>G (p.Lys3214Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148777T>G | CA370093012 | KMT2C | c.1338A>C n.2282A>C c.13321A>C (p.Lys4441Gln) n.2450A>C n.8342A>C c.3723A>C c.10660A>C (p.Lys3554Gln) n.4780A>C c.3795A>C n.1916A>C n.1866A>C c.1567A>C (p.Lys523Gln) c.8047A>C (p.Lys2683Gln) c.13150A>C (p.Lys4384Gln) c.8937A>C c.3792A>C c.3726A>C n.7861A>C c.8050A>C (p.Lys2684Gln) c.12715A>C (p.Lys4239Gln) c.3727A>C n.2165A>C c.5831A>C c.3001A>C (p.Lys1001Gln) n.11032A>C c.*10670A>C (n.*10670A>C) c.13366A>C (p.Lys4456Gln) c.13363A>C (p.Lys4455Gln) c.13201A>C (p.Lys4401Gln) c.13294A>C (p.Lys4432Gln) c.13198A>C (p.Lys4400Gln) c.13318A>C (p.Lys4440Gln) c.13246A>C (p.Lys4416Gln) c.13213A>C (p.Lys4405Gln) c.13129A>C (p.Lys4377Gln) c.12451A>C (p.Lys4151Gln) c.10912A>C (p.Lys3638Gln) c.13333A>C (p.Lys4445Gln) c.13315A>C (p.Lys4439Gln) c.13291A>C (p.Lys4431Gln) c.13219A>C (p.Lys4407Gln) c.13183A>C (p.Lys4395Gln) c.10036A>C (p.Lys3346Gln) c.9640A>C (p.Lys3214Gln) | |
7 | g.152148777T= | CA1752986306 | KMT2C | c.1338A= n.2282A= c.13321A= (p.Lys4441=) n.2450A= n.8342A= c.3723A= c.10660A= (p.Lys3554=) n.4780A= c.3795A= n.1916A= n.1866A= c.1567A= (p.Lys523=) c.8047A= (p.Lys2683=) c.13150A= (p.Lys4384=) c.8937A= c.3792A= c.3726A= n.7861A= c.8050A= (p.Lys2684=) c.12715A= (p.Lys4239=) c.3727A= n.2165A= c.5831A= c.3001A= (p.Lys1001=) n.11032A= c.*10670A= (n.*10670A=) c.13366A= (p.Lys4456=) c.13363A= (p.Lys4455=) c.13201A= (p.Lys4401=) c.13294A= (p.Lys4432=) c.13198A= (p.Lys4400=) c.13318A= (p.Lys4440=) c.13246A= (p.Lys4416=) c.13213A= (p.Lys4405=) c.13129A= (p.Lys4377=) c.12451A= (p.Lys4151=) c.10912A= (p.Lys3638=) c.13333A= (p.Lys4445=) c.13315A= (p.Lys4439=) c.13291A= (p.Lys4431=) c.13219A= (p.Lys4407=) c.13183A= (p.Lys4395=) c.10036A= (p.Lys3346=) c.9640A= (p.Lys3214=) | |
7 | g.152148778T>A | CA458884693 | KMT2C | c.1337A>T n.2281A>T c.13320A>T (p.Leu4440=) n.2449A>T n.8341A>T c.3722A>T c.10659A>T (p.Leu3553=) n.4779A>T c.3794A>T n.1915A>T n.1865A>T c.1566A>T (p.Leu522=) c.8046A>T (p.Leu2682=) c.13149A>T (p.Leu4383=) c.8936A>T c.3791A>T c.3725A>T n.7860A>T c.8049A>T (p.Leu2683=) c.12714A>T (p.Leu4238=) c.3726A>T n.2164A>T c.5830A>T c.3000A>T (p.Leu1000=) n.11031A>T c.*10669A>T (n.*10669A>T) c.13365A>T (p.Leu4455=) c.13362A>T (p.Leu4454=) c.13200A>T (p.Leu4400=) c.13293A>T (p.Leu4431=) c.13197A>T (p.Leu4399=) c.13317A>T (p.Leu4439=) c.13245A>T (p.Leu4415=) c.13212A>T (p.Leu4404=) c.13128A>T (p.Leu4376=) c.12450A>T (p.Leu4150=) c.10911A>T (p.Leu3637=) c.13332A>T (p.Leu4444=) c.13314A>T (p.Leu4438=) c.13290A>T (p.Leu4430=) c.13218A>T (p.Leu4406=) c.13182A>T (p.Leu4394=) c.10035A>T (p.Leu3345=) c.9639A>T (p.Leu3213=) | |
7 | g.152148778T>C | CA4578663 | KMT2C | c.1337A>G n.2281A>G c.13320A>G (p.Leu4440=) n.2449A>G n.8341A>G c.3722A>G c.10659A>G (p.Leu3553=) n.4779A>G c.3794A>G n.1915A>G n.1865A>G c.1566A>G (p.Leu522=) c.8046A>G (p.Leu2682=) c.13149A>G (p.Leu4383=) c.8936A>G c.3791A>G c.3725A>G n.7860A>G c.8049A>G (p.Leu2683=) c.12714A>G (p.Leu4238=) c.3726A>G n.2164A>G c.5830A>G c.3000A>G (p.Leu1000=) n.11031A>G c.*10669A>G (n.*10669A>G) c.13365A>G (p.Leu4455=) c.13362A>G (p.Leu4454=) c.13200A>G (p.Leu4400=) c.13293A>G (p.Leu4431=) c.13197A>G (p.Leu4399=) c.13317A>G (p.Leu4439=) c.13245A>G (p.Leu4415=) c.13212A>G (p.Leu4404=) c.13128A>G (p.Leu4376=) c.12450A>G (p.Leu4150=) c.10911A>G (p.Leu3637=) c.13332A>G (p.Leu4444=) c.13314A>G (p.Leu4438=) c.13290A>G (p.Leu4430=) c.13218A>G (p.Leu4406=) c.13182A>G (p.Leu4394=) c.10035A>G (p.Leu3345=) c.9639A>G (p.Leu3213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148778T>G | CA458884694 | KMT2C | c.1337A>C n.2281A>C c.13320A>C (p.Leu4440=) n.2449A>C n.8341A>C c.3722A>C c.10659A>C (p.Leu3553=) n.4779A>C c.3794A>C n.1915A>C n.1865A>C c.1566A>C (p.Leu522=) c.8046A>C (p.Leu2682=) c.13149A>C (p.Leu4383=) c.8936A>C c.3791A>C c.3725A>C n.7860A>C c.8049A>C (p.Leu2683=) c.12714A>C (p.Leu4238=) c.3726A>C n.2164A>C c.5830A>C c.3000A>C (p.Leu1000=) n.11031A>C c.*10669A>C (n.*10669A>C) c.13365A>C (p.Leu4455=) c.13362A>C (p.Leu4454=) c.13200A>C (p.Leu4400=) c.13293A>C (p.Leu4431=) c.13197A>C (p.Leu4399=) c.13317A>C (p.Leu4439=) c.13245A>C (p.Leu4415=) c.13212A>C (p.Leu4404=) c.13128A>C (p.Leu4376=) c.12450A>C (p.Leu4150=) c.10911A>C (p.Leu3637=) c.13332A>C (p.Leu4444=) c.13314A>C (p.Leu4438=) c.13290A>C (p.Leu4430=) c.13218A>C (p.Leu4406=) c.13182A>C (p.Leu4394=) c.10035A>C (p.Leu3345=) c.9639A>C (p.Leu3213=) | |
7 | g.152148778T= | CA1752986308 | KMT2C | c.1337A= n.2281A= c.13320A= (p.Leu4440=) n.2449A= n.8341A= c.3722A= c.10659A= (p.Leu3553=) n.4779A= c.3794A= n.1915A= n.1865A= c.1566A= (p.Leu522=) c.8046A= (p.Leu2682=) c.13149A= (p.Leu4383=) c.8936A= c.3791A= c.3725A= n.7860A= c.8049A= (p.Leu2683=) c.12714A= (p.Leu4238=) c.3726A= n.2164A= c.5830A= c.3000A= (p.Leu1000=) n.11031A= c.*10669A= (n.*10669A=) c.13365A= (p.Leu4455=) c.13362A= (p.Leu4454=) c.13200A= (p.Leu4400=) c.13293A= (p.Leu4431=) c.13197A= (p.Leu4399=) c.13317A= (p.Leu4439=) c.13245A= (p.Leu4415=) c.13212A= (p.Leu4404=) c.13128A= (p.Leu4376=) c.12450A= (p.Leu4150=) c.10911A= (p.Leu3637=) c.13332A= (p.Leu4444=) c.13314A= (p.Leu4438=) c.13290A= (p.Leu4430=) c.13218A= (p.Leu4406=) c.13182A= (p.Leu4394=) c.10035A= (p.Leu3345=) c.9639A= (p.Leu3213=) | |
7 | g.152148779A= | CA1752986313 | KMT2C | c.1336T= n.2280T= c.13319T= (p.Leu4440=) n.2448T= n.8340T= c.3721T= c.10658T= (p.Leu3553=) n.4778T= c.3793T= n.1914T= n.1864T= c.1565T= (p.Leu522=) c.8045T= (p.Leu2682=) c.13148T= (p.Leu4383=) c.8935T= c.3790T= c.3724T= n.7859T= c.8048T= (p.Leu2683=) c.12713T= (p.Leu4238=) c.3725T= n.2163T= c.5829T= c.2999T= (p.Leu1000=) n.11030T= c.*10668T= (n.*10668T=) c.13364T= (p.Leu4455=) c.13361T= (p.Leu4454=) c.13199T= (p.Leu4400=) c.13292T= (p.Leu4431=) c.13196T= (p.Leu4399=) c.13316T= (p.Leu4439=) c.13244T= (p.Leu4415=) c.13211T= (p.Leu4404=) c.13127T= (p.Leu4376=) c.12449T= (p.Leu4150=) c.10910T= (p.Leu3637=) c.13331T= (p.Leu4444=) c.13313T= (p.Leu4438=) c.13289T= (p.Leu4430=) c.13217T= (p.Leu4406=) c.13181T= (p.Leu4394=) c.10034T= (p.Leu3345=) c.9638T= (p.Leu3213=) | |
7 | g.152148779A>C | CA370093014 | KMT2C | c.1336T>G n.2280T>G c.13319T>G (p.Leu4440Arg) n.2448T>G n.8340T>G c.3721T>G c.10658T>G (p.Leu3553Arg) n.4778T>G c.3793T>G n.1914T>G n.1864T>G c.1565T>G (p.Leu522Arg) c.8045T>G (p.Leu2682Arg) c.13148T>G (p.Leu4383Arg) c.8935T>G c.3790T>G c.3724T>G n.7859T>G c.8048T>G (p.Leu2683Arg) c.12713T>G (p.Leu4238Arg) c.3725T>G n.2163T>G c.5829T>G c.2999T>G (p.Leu1000Arg) n.11030T>G c.*10668T>G (n.*10668T>G) c.13364T>G (p.Leu4455Arg) c.13361T>G (p.Leu4454Arg) c.13199T>G (p.Leu4400Arg) c.13292T>G (p.Leu4431Arg) c.13196T>G (p.Leu4399Arg) c.13316T>G (p.Leu4439Arg) c.13244T>G (p.Leu4415Arg) c.13211T>G (p.Leu4404Arg) c.13127T>G (p.Leu4376Arg) c.12449T>G (p.Leu4150Arg) c.10910T>G (p.Leu3637Arg) c.13331T>G (p.Leu4444Arg) c.13313T>G (p.Leu4438Arg) c.13289T>G (p.Leu4430Arg) c.13217T>G (p.Leu4406Arg) c.13181T>G (p.Leu4394Arg) c.10034T>G (p.Leu3345Arg) c.9638T>G (p.Leu3213Arg) | |
7 | g.152148779A>G | CA370093016 | KMT2C | c.1336T>C n.2280T>C c.13319T>C (p.Leu4440Pro) n.2448T>C n.8340T>C c.3721T>C c.10658T>C (p.Leu3553Pro) n.4778T>C c.3793T>C n.1914T>C n.1864T>C c.1565T>C (p.Leu522Pro) c.8045T>C (p.Leu2682Pro) c.13148T>C (p.Leu4383Pro) c.8935T>C c.3790T>C c.3724T>C n.7859T>C c.8048T>C (p.Leu2683Pro) c.12713T>C (p.Leu4238Pro) c.3725T>C n.2163T>C c.5829T>C c.2999T>C (p.Leu1000Pro) n.11030T>C c.*10668T>C (n.*10668T>C) c.13364T>C (p.Leu4455Pro) c.13361T>C (p.Leu4454Pro) c.13199T>C (p.Leu4400Pro) c.13292T>C (p.Leu4431Pro) c.13196T>C (p.Leu4399Pro) c.13316T>C (p.Leu4439Pro) c.13244T>C (p.Leu4415Pro) c.13211T>C (p.Leu4404Pro) c.13127T>C (p.Leu4376Pro) c.12449T>C (p.Leu4150Pro) c.10910T>C (p.Leu3637Pro) c.13331T>C (p.Leu4444Pro) c.13313T>C (p.Leu4438Pro) c.13289T>C (p.Leu4430Pro) c.13217T>C (p.Leu4406Pro) c.13181T>C (p.Leu4394Pro) c.10034T>C (p.Leu3345Pro) c.9638T>C (p.Leu3213Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148779A>T | CA370093017 | KMT2C | c.1336T>A n.2280T>A c.13319T>A (p.Leu4440Gln) n.2448T>A n.8340T>A c.3721T>A c.10658T>A (p.Leu3553Gln) n.4778T>A c.3793T>A n.1914T>A n.1864T>A c.1565T>A (p.Leu522Gln) c.8045T>A (p.Leu2682Gln) c.13148T>A (p.Leu4383Gln) c.8935T>A c.3790T>A c.3724T>A n.7859T>A c.8048T>A (p.Leu2683Gln) c.12713T>A (p.Leu4238Gln) c.3725T>A n.2163T>A c.5829T>A c.2999T>A (p.Leu1000Gln) n.11030T>A c.*10668T>A (n.*10668T>A) c.13364T>A (p.Leu4455Gln) c.13361T>A (p.Leu4454Gln) c.13199T>A (p.Leu4400Gln) c.13292T>A (p.Leu4431Gln) c.13196T>A (p.Leu4399Gln) c.13316T>A (p.Leu4439Gln) c.13244T>A (p.Leu4415Gln) c.13211T>A (p.Leu4404Gln) c.13127T>A (p.Leu4376Gln) c.12449T>A (p.Leu4150Gln) c.10910T>A (p.Leu3637Gln) c.13331T>A (p.Leu4444Gln) c.13313T>A (p.Leu4438Gln) c.13289T>A (p.Leu4430Gln) c.13217T>A (p.Leu4406Gln) c.13181T>A (p.Leu4394Gln) c.10034T>A (p.Leu3345Gln) c.9638T>A (p.Leu3213Gln) |