Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49039240G>A | CA384742604 | KMT2D | n.47C>T c.8348C>T (p.Ser2783Phe) c.8357C>T (p.Ser2786Phe) c.2367C>T c.2021C>T (p.Ser674Phe) c.2457C>T c.8345C>T (p.Ser2782Phe) n.60C>T c.8354C>T (p.Ser2785Phe) c.8336C>T (p.Ser2779Phe) c.8264C>T (p.Ser2755Phe) n.10677C>T n.9666C>T | dbSNP |
12 | g.49039240G>C | CA384742605 | KMT2D | n.47C>G c.8348C>G (p.Ser2783Cys) c.8357C>G (p.Ser2786Cys) c.2367C>G c.2021C>G (p.Ser674Cys) c.2457C>G c.8345C>G (p.Ser2782Cys) n.60C>G c.8354C>G (p.Ser2785Cys) c.8336C>G (p.Ser2779Cys) c.8264C>G (p.Ser2755Cys) n.10677C>G n.9666C>G | |
12 | g.49039240G= | CA2034959054 | KMT2D | n.47C= c.8348C= (p.Ser2783=) c.8357C= (p.Ser2786=) c.2367C= c.2021C= (p.Ser674=) c.2457C= c.8345C= (p.Ser2782=) n.60C= c.8354C= (p.Ser2785=) c.8336C= (p.Ser2779=) c.8264C= (p.Ser2755=) n.10677C= n.9666C= | |
12 | g.49039240G>T | CA384742626 | KMT2D | n.47C>A c.8348C>A (p.Ser2783Tyr) c.8357C>A (p.Ser2786Tyr) c.2367C>A c.2021C>A (p.Ser674Tyr) c.2457C>A c.8345C>A (p.Ser2782Tyr) n.60C>A c.8354C>A (p.Ser2785Tyr) c.8336C>A (p.Ser2779Tyr) c.8264C>A (p.Ser2755Tyr) n.10677C>A n.9666C>A | |
12 | g.49039241A>C | CA384742629 | KMT2D | n.46T>G c.8347T>G (p.Ser2783Ala) c.8356T>G (p.Ser2786Ala) c.2366T>G c.2020T>G (p.Ser674Ala) c.2456T>G c.8344T>G (p.Ser2782Ala) n.59T>G c.8353T>G (p.Ser2785Ala) c.8335T>G (p.Ser2779Ala) c.8263T>G (p.Ser2755Ala) n.10676T>G n.9665T>G | |
12 | g.49039241A>G | CA384742630 | KMT2D | n.46T>C c.8347T>C (p.Ser2783Pro) c.8356T>C (p.Ser2786Pro) c.2366T>C c.2020T>C (p.Ser674Pro) c.2456T>C c.8344T>C (p.Ser2782Pro) n.59T>C c.8353T>C (p.Ser2785Pro) c.8335T>C (p.Ser2779Pro) c.8263T>C (p.Ser2755Pro) n.10676T>C n.9665T>C | |
12 | g.49039241A>T | CA384742632 | KMT2D | n.46T>A c.8347T>A (p.Ser2783Thr) c.8356T>A (p.Ser2786Thr) c.2366T>A c.2020T>A (p.Ser674Thr) c.2456T>A c.8344T>A (p.Ser2782Thr) n.59T>A c.8353T>A (p.Ser2785Thr) c.8335T>A (p.Ser2779Thr) c.8263T>A (p.Ser2755Thr) n.10676T>A n.9665T>A | |
12 | g.49039242G>A | CA479710542 | KMT2D | n.45C>T c.8346C>T (p.Ser2782=) c.8355C>T (p.Ser2785=) c.2365C>T c.2019C>T (p.Ser673=) c.2455C>T c.8343C>T (p.Ser2781=) n.58C>T c.8352C>T (p.Ser2784=) c.8334C>T (p.Ser2778=) c.8262C>T (p.Ser2754=) n.10675C>T n.9664C>T | dbSNP |
12 | g.49039242G>C | CA479710540 | KMT2D | n.45C>G c.8346C>G (p.Ser2782=) c.8355C>G (p.Ser2785=) c.2365C>G c.2019C>G (p.Ser673=) c.2455C>G c.8343C>G (p.Ser2781=) n.58C>G c.8352C>G (p.Ser2784=) c.8334C>G (p.Ser2778=) c.8262C>G (p.Ser2754=) n.10675C>G n.9664C>G | ClinVar |
12 | g.49039242G= | CA2034959056 | KMT2D | n.45C= c.8346C= (p.Ser2782=) c.8355C= (p.Ser2785=) c.2365C= c.2019C= (p.Ser673=) c.2455C= c.8343C= (p.Ser2781=) n.58C= c.8352C= (p.Ser2784=) c.8334C= (p.Ser2778=) c.8262C= (p.Ser2754=) n.10675C= n.9664C= | |
12 | g.49039242G>T | CA479710539 | KMT2D | n.45C>A c.8346C>A (p.Ser2782=) c.8355C>A (p.Ser2785=) c.2365C>A c.2019C>A (p.Ser673=) c.2455C>A c.8343C>A (p.Ser2781=) n.58C>A c.8352C>A (p.Ser2784=) c.8334C>A (p.Ser2778=) c.8262C>A (p.Ser2754=) n.10675C>A n.9664C>A | |
12 | g.49039243G>A | CA384742635 | KMT2D | n.44C>T c.8345C>T (p.Ser2782Phe) c.8354C>T (p.Ser2785Phe) c.2364C>T c.2018C>T (p.Ser673Phe) c.2454C>T c.8342C>T (p.Ser2781Phe) n.57C>T c.8351C>T (p.Ser2784Phe) c.8333C>T (p.Ser2778Phe) c.8261C>T (p.Ser2754Phe) n.10674C>T n.9663C>T | gnomAD v4 |
12 | g.49039243G>C | CA384742637 | KMT2D | n.44C>G c.8345C>G (p.Ser2782Cys) c.8354C>G (p.Ser2785Cys) c.2364C>G c.2018C>G (p.Ser673Cys) c.2454C>G c.8342C>G (p.Ser2781Cys) n.57C>G c.8351C>G (p.Ser2784Cys) c.8333C>G (p.Ser2778Cys) c.8261C>G (p.Ser2754Cys) n.10674C>G n.9663C>G | dbSNP |
12 | g.49039243G>T | CA384742638 | KMT2D | n.44C>A c.8345C>A (p.Ser2782Tyr) c.8354C>A (p.Ser2785Tyr) c.2364C>A c.2018C>A (p.Ser673Tyr) c.2454C>A c.8342C>A (p.Ser2781Tyr) n.57C>A c.8351C>A (p.Ser2784Tyr) c.8333C>A (p.Ser2778Tyr) c.8261C>A (p.Ser2754Tyr) n.10674C>A n.9663C>A | gnomAD v4 |
12 | g.49039244A>C | CA384742641 | KMT2D | n.43T>G c.8344T>G (p.Ser2782Ala) c.8353T>G (p.Ser2785Ala) c.2363T>G c.2017T>G (p.Ser673Ala) c.2453T>G c.8341T>G (p.Ser2781Ala) n.56T>G c.8350T>G (p.Ser2784Ala) c.8332T>G (p.Ser2778Ala) c.8260T>G (p.Ser2754Ala) n.10673T>G n.9662T>G | |
12 | g.49039244A>G | CA384742642 | KMT2D | n.43T>C c.8344T>C (p.Ser2782Pro) c.8353T>C (p.Ser2785Pro) c.2363T>C c.2017T>C (p.Ser673Pro) c.2453T>C c.8341T>C (p.Ser2781Pro) n.56T>C c.8350T>C (p.Ser2784Pro) c.8332T>C (p.Ser2778Pro) c.8260T>C (p.Ser2754Pro) n.10673T>C n.9662T>C | |
12 | g.49039244A>T | CA384742644 | KMT2D | n.43T>A c.8344T>A (p.Ser2782Thr) c.8353T>A (p.Ser2785Thr) c.2363T>A c.2017T>A (p.Ser673Thr) c.2453T>A c.8341T>A (p.Ser2781Thr) n.56T>A c.8350T>A (p.Ser2784Thr) c.8332T>A (p.Ser2778Thr) c.8260T>A (p.Ser2754Thr) n.10673T>A n.9662T>A | |
12 | g.49039245A>C | CA479710548 | KMT2D | n.42T>G c.8343T>G (p.Pro2781=) c.8352T>G (p.Pro2784=) c.2362T>G c.2016T>G (p.Pro672=) c.2452T>G c.8340T>G (p.Pro2780=) n.55T>G c.8349T>G (p.Pro2783=) c.8331T>G (p.Pro2777=) c.8259T>G (p.Pro2753=) n.10672T>G n.9661T>G | |
12 | g.49039245A>G | CA479710547 | KMT2D | n.42T>C c.8343T>C (p.Pro2781=) c.8352T>C (p.Pro2784=) c.2362T>C c.2016T>C (p.Pro672=) c.2452T>C c.8340T>C (p.Pro2780=) n.55T>C c.8349T>C (p.Pro2783=) c.8331T>C (p.Pro2777=) c.8259T>C (p.Pro2753=) n.10672T>C n.9661T>C | |
12 | g.49039245A>T | CA479710545 | KMT2D | n.42T>A c.8343T>A (p.Pro2781=) c.8352T>A (p.Pro2784=) c.2362T>A c.2016T>A (p.Pro672=) c.2452T>A c.8340T>A (p.Pro2780=) n.55T>A c.8349T>A (p.Pro2783=) c.8331T>A (p.Pro2777=) c.8259T>A (p.Pro2753=) n.10672T>A n.9661T>A | |
12 | g.49039246G>A | CA6546855 | KMT2D | n.41C>T c.8342C>T (p.Pro2781Leu) c.8351C>T (p.Pro2784Leu) c.2361C>T c.2015C>T (p.Pro672Leu) c.2451C>T c.8339C>T (p.Pro2780Leu) n.54C>T c.8348C>T (p.Pro2783Leu) c.8330C>T (p.Pro2777Leu) c.8258C>T (p.Pro2753Leu) n.10671C>T n.9660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039246G>C | CA384742650 | KMT2D | n.41C>G c.8342C>G (p.Pro2781Arg) c.8351C>G (p.Pro2784Arg) c.2361C>G c.2015C>G (p.Pro672Arg) c.2451C>G c.8339C>G (p.Pro2780Arg) n.54C>G c.8348C>G (p.Pro2783Arg) c.8330C>G (p.Pro2777Arg) c.8258C>G (p.Pro2753Arg) n.10671C>G n.9660C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039246G= | CA2034959058 | KMT2D | n.41C= c.8342C= (p.Pro2781=) c.8351C= (p.Pro2784=) c.2361C= c.2015C= (p.Pro672=) c.2451C= c.8339C= (p.Pro2780=) n.54C= c.8348C= (p.Pro2783=) c.8330C= (p.Pro2777=) c.8258C= (p.Pro2753=) n.10671C= n.9660C= | |
12 | g.49039246G>T | CA384742647 | KMT2D | n.41C>A c.8342C>A (p.Pro2781His) c.8351C>A (p.Pro2784His) c.2361C>A c.2015C>A (p.Pro672His) c.2451C>A c.8339C>A (p.Pro2780His) n.54C>A c.8348C>A (p.Pro2783His) c.8330C>A (p.Pro2777His) c.8258C>A (p.Pro2753His) n.10671C>A n.9660C>A | |
12 | g.49039247G>A | CA384742651 | KMT2D | n.40C>T c.8341C>T (p.Pro2781Ser) c.8350C>T (p.Pro2784Ser) c.2360C>T c.2014C>T (p.Pro672Ser) c.2450C>T c.8338C>T (p.Pro2780Ser) n.53C>T c.8347C>T (p.Pro2783Ser) c.8329C>T (p.Pro2777Ser) c.8257C>T (p.Pro2753Ser) n.10670C>T n.9659C>T | COSMIC COSMIC |
12 | g.49039247G>C | CA384742652 | KMT2D | n.40C>G c.8341C>G (p.Pro2781Ala) c.8350C>G (p.Pro2784Ala) c.2360C>G c.2014C>G (p.Pro672Ala) c.2450C>G c.8338C>G (p.Pro2780Ala) n.53C>G c.8347C>G (p.Pro2783Ala) c.8329C>G (p.Pro2777Ala) c.8257C>G (p.Pro2753Ala) n.10670C>G n.9659C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039247G= | CA2034959061 | KMT2D | n.40C= c.8341C= (p.Pro2781=) c.8350C= (p.Pro2784=) c.2360C= c.2014C= (p.Pro672=) c.2450C= c.8338C= (p.Pro2780=) n.53C= c.8347C= (p.Pro2783=) c.8329C= (p.Pro2777=) c.8257C= (p.Pro2753=) n.10670C= n.9659C= | |
12 | g.49039247G>T | CA384742653 | KMT2D | n.40C>A c.8341C>A (p.Pro2781Thr) c.8350C>A (p.Pro2784Thr) c.2360C>A c.2014C>A (p.Pro672Thr) c.2450C>A c.8338C>A (p.Pro2780Thr) n.53C>A c.8347C>A (p.Pro2783Thr) c.8329C>A (p.Pro2777Thr) c.8257C>A (p.Pro2753Thr) n.10670C>A n.9659C>A | |
12 | g.49039248_49039255del | CA2596224992 | KMT2D | n.33_40del c.8334_8341del (p.Ala2779PhefsTer?) c.8343_8350del (p.Ala2782PhefsTer?) c.2353_2360del c.2007_2014del (p.Ala670PhefsTer?) c.2443_2450del c.8331_8338del (p.Ala2778PhefsTer?) n.46_53del c.8340_8347del (p.Ala2781PhefsTer?) c.8322_8329del (p.Ala2775PhefsTer?) c.8250_8257del (p.Ala2751PhefsTer?) n.10663_10670del n.9652_9659del | gnomAD v3 gnomAD v4 |
12 | g.49039248C>A | CA6546856 | KMT2D | n.39G>T c.8340G>T (p.Thr2780=) c.8349G>T (p.Thr2783=) c.2359G>T c.2013G>T (p.Thr671=) c.2449G>T c.8337G>T (p.Thr2779=) n.52G>T c.8346G>T (p.Thr2782=) c.8328G>T (p.Thr2776=) c.8256G>T (p.Thr2752=) n.10669G>T n.9658G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039248C= | CA2034959064 | KMT2D | n.39G= c.8340G= (p.Thr2780=) c.8349G= (p.Thr2783=) c.2359G= c.2013G= (p.Thr671=) c.2449G= c.8337G= (p.Thr2779=) n.52G= c.8346G= (p.Thr2782=) c.8328G= (p.Thr2776=) c.8256G= (p.Thr2752=) n.10669G= n.9658G= | |
12 | g.49039248C>G | CA479710550 | KMT2D | n.39G>C c.8340G>C (p.Thr2780=) c.8349G>C (p.Thr2783=) c.2359G>C c.2013G>C (p.Thr671=) c.2449G>C c.8337G>C (p.Thr2779=) n.52G>C c.8346G>C (p.Thr2782=) c.8328G>C (p.Thr2776=) c.8256G>C (p.Thr2752=) n.10669G>C n.9658G>C | |
12 | g.49039248C>T | CA6546857 | KMT2D | n.39G>A c.8340G>A (p.Thr2780=) c.8349G>A (p.Thr2783=) c.2359G>A c.2013G>A (p.Thr671=) c.2449G>A c.8337G>A (p.Thr2779=) n.52G>A c.8346G>A (p.Thr2782=) c.8328G>A (p.Thr2776=) c.8256G>A (p.Thr2752=) n.10669G>A n.9658G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039249G>A | CA6546858 | KMT2D | n.38C>T c.8339C>T (p.Thr2780Met) c.8348C>T (p.Thr2783Met) c.2358C>T c.2012C>T (p.Thr671Met) c.2448C>T c.8336C>T (p.Thr2779Met) n.51C>T c.8345C>T (p.Thr2782Met) c.8327C>T (p.Thr2776Met) c.8255C>T (p.Thr2752Met) n.10668C>T n.9657C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039249G>C | CA384742659 | KMT2D | n.38C>G c.8339C>G (p.Thr2780Arg) c.8348C>G (p.Thr2783Arg) c.2358C>G c.2012C>G (p.Thr671Arg) c.2448C>G c.8336C>G (p.Thr2779Arg) n.51C>G c.8345C>G (p.Thr2782Arg) c.8327C>G (p.Thr2776Arg) c.8255C>G (p.Thr2752Arg) n.10668C>G n.9657C>G | |
12 | g.49039249G= | CA2034959068 | KMT2D | n.38C= c.8339C= (p.Thr2780=) c.8348C= (p.Thr2783=) c.2358C= c.2012C= (p.Thr671=) c.2448C= c.8336C= (p.Thr2779=) n.51C= c.8345C= (p.Thr2782=) c.8327C= (p.Thr2776=) c.8255C= (p.Thr2752=) n.10668C= n.9657C= | |
12 | g.49039249G>T | CA384742658 | KMT2D | n.38C>A c.8339C>A (p.Thr2780Lys) c.8348C>A (p.Thr2783Lys) c.2358C>A c.2012C>A (p.Thr671Lys) c.2448C>A c.8336C>A (p.Thr2779Lys) n.51C>A c.8345C>A (p.Thr2782Lys) c.8327C>A (p.Thr2776Lys) c.8255C>A (p.Thr2752Lys) n.10668C>A n.9657C>A | |
12 | g.49039250T>A | CA384742660 | KMT2D | n.37A>T c.8338A>T (p.Thr2780Ser) c.8347A>T (p.Thr2783Ser) c.2357A>T c.2011A>T (p.Thr671Ser) c.2447A>T c.8335A>T (p.Thr2779Ser) n.50A>T c.8344A>T (p.Thr2782Ser) c.8326A>T (p.Thr2776Ser) c.8254A>T (p.Thr2752Ser) n.10667A>T n.9656A>T | dbSNP |
12 | g.49039250T>C | CA384742662 | KMT2D | n.37A>G c.8338A>G (p.Thr2780Ala) c.8347A>G (p.Thr2783Ala) c.2357A>G c.2011A>G (p.Thr671Ala) c.2447A>G c.8335A>G (p.Thr2779Ala) n.50A>G c.8344A>G (p.Thr2782Ala) c.8326A>G (p.Thr2776Ala) c.8254A>G (p.Thr2752Ala) n.10667A>G n.9656A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039250T>G | CA384742663 | KMT2D | n.37A>C c.8338A>C (p.Thr2780Pro) c.8347A>C (p.Thr2783Pro) c.2357A>C c.2011A>C (p.Thr671Pro) c.2447A>C c.8335A>C (p.Thr2779Pro) n.50A>C c.8344A>C (p.Thr2782Pro) c.8326A>C (p.Thr2776Pro) c.8254A>C (p.Thr2752Pro) n.10667A>C n.9656A>C | dbSNP |
12 | g.49039250T= | CA2034959071 | KMT2D | n.37A= c.8338A= (p.Thr2780=) c.8347A= (p.Thr2783=) c.2357A= c.2011A= (p.Thr671=) c.2447A= c.8335A= (p.Thr2779=) n.50A= c.8344A= (p.Thr2782=) c.8326A= (p.Thr2776=) c.8254A= (p.Thr2752=) n.10667A= n.9656A= | |
12 | g.49039251G>A | CA479710553 | KMT2D | n.36C>T c.8337C>T (p.Ala2779=) c.8346C>T (p.Ala2782=) c.2356C>T c.2010C>T (p.Ala670=) c.2446C>T c.8334C>T (p.Ala2778=) n.49C>T c.8343C>T (p.Ala2781=) c.8325C>T (p.Ala2775=) c.8253C>T (p.Ala2751=) n.10666C>T n.9655C>T | |
12 | g.49039251G>C | CA479710554 | KMT2D | n.36C>G c.8337C>G (p.Ala2779=) c.8346C>G (p.Ala2782=) c.2356C>G c.2010C>G (p.Ala670=) c.2446C>G c.8334C>G (p.Ala2778=) n.49C>G c.8343C>G (p.Ala2781=) c.8325C>G (p.Ala2775=) c.8253C>G (p.Ala2751=) n.10666C>G n.9655C>G | |
12 | g.49039251G>T | CA479710556 | KMT2D | n.36C>A c.8337C>A (p.Ala2779=) c.8346C>A (p.Ala2782=) c.2356C>A c.2010C>A (p.Ala670=) c.2446C>A c.8334C>A (p.Ala2778=) n.49C>A c.8343C>A (p.Ala2781=) c.8325C>A (p.Ala2775=) c.8253C>A (p.Ala2751=) n.10666C>A n.9655C>A | |
12 | g.49039252G>A | CA384742665 | KMT2D | n.35C>T c.8336C>T (p.Ala2779Val) c.8345C>T (p.Ala2782Val) c.2355C>T c.2009C>T (p.Ala670Val) c.2445C>T c.8333C>T (p.Ala2778Val) n.48C>T c.8342C>T (p.Ala2781Val) c.8324C>T (p.Ala2775Val) c.8252C>T (p.Ala2751Val) n.10665C>T n.9654C>T | dbSNP gnomAD v4 |
12 | g.49039252G>C | CA384742667 | KMT2D | n.35C>G c.8336C>G (p.Ala2779Gly) c.8345C>G (p.Ala2782Gly) c.2355C>G c.2009C>G (p.Ala670Gly) c.2445C>G c.8333C>G (p.Ala2778Gly) n.48C>G c.8342C>G (p.Ala2781Gly) c.8324C>G (p.Ala2775Gly) c.8252C>G (p.Ala2751Gly) n.10665C>G n.9654C>G | |
12 | g.49039252G>T | CA384742668 | KMT2D | n.35C>A c.8336C>A (p.Ala2779Asp) c.8345C>A (p.Ala2782Asp) c.2355C>A c.2009C>A (p.Ala670Asp) c.2445C>A c.8333C>A (p.Ala2778Asp) n.48C>A c.8342C>A (p.Ala2781Asp) c.8324C>A (p.Ala2775Asp) c.8252C>A (p.Ala2751Asp) n.10665C>A n.9654C>A | |
12 | g.49039253C>A | CA384742673 | KMT2D | n.34G>T c.8335G>T (p.Ala2779Ser) c.8344G>T (p.Ala2782Ser) c.2354G>T c.2008G>T (p.Ala670Ser) c.2444G>T c.8332G>T (p.Ala2778Ser) n.47G>T c.8341G>T (p.Ala2781Ser) c.8323G>T (p.Ala2775Ser) c.8251G>T (p.Ala2751Ser) n.10664G>T n.9653G>T | |
12 | g.49039253C= | CA2034959075 | KMT2D | n.34G= c.8335G= (p.Ala2779=) c.8344G= (p.Ala2782=) c.2354G= c.2008G= (p.Ala670=) c.2444G= c.8332G= (p.Ala2778=) n.47G= c.8341G= (p.Ala2781=) c.8323G= (p.Ala2775=) c.8251G= (p.Ala2751=) n.10664G= n.9653G= | |
12 | g.49039253C>G | CA384742671 | KMT2D | n.34G>C c.8335G>C (p.Ala2779Pro) c.8344G>C (p.Ala2782Pro) c.2354G>C c.2008G>C (p.Ala670Pro) c.2444G>C c.8332G>C (p.Ala2778Pro) n.47G>C c.8341G>C (p.Ala2781Pro) c.8323G>C (p.Ala2775Pro) c.8251G>C (p.Ala2751Pro) n.10664G>C n.9653G>C | dbSNP |
12 | g.49039253C>T | CA236646025 | KMT2D | n.34G>A c.8335G>A (p.Ala2779Thr) c.8344G>A (p.Ala2782Thr) c.2354G>A c.2008G>A (p.Ala670Thr) c.2444G>A c.8332G>A (p.Ala2778Thr) n.47G>A c.8341G>A (p.Ala2781Thr) c.8323G>A (p.Ala2775Thr) c.8251G>A (p.Ala2751Thr) n.10664G>A n.9653G>A | dbSNP gnomAD v4 |
12 | g.49039254T>A | CA479710560 | KMT2D | n.33A>T c.8334A>T (p.Pro2778=) c.8343A>T (p.Pro2781=) c.2353A>T c.2007A>T (p.Pro669=) c.2443A>T c.8331A>T (p.Pro2777=) n.46A>T c.8340A>T (p.Pro2780=) c.8322A>T (p.Pro2774=) c.8250A>T (p.Pro2750=) n.10663A>T n.9652A>T | dbSNP |
12 | g.49039254T>C | CA6546859 | KMT2D | n.33A>G c.8334A>G (p.Pro2778=) c.8343A>G (p.Pro2781=) c.2353A>G c.2007A>G (p.Pro669=) c.2443A>G c.8331A>G (p.Pro2777=) n.46A>G c.8340A>G (p.Pro2780=) c.8322A>G (p.Pro2774=) c.8250A>G (p.Pro2750=) n.10663A>G n.9652A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039254T>G | CA479710561 | KMT2D | n.33A>C c.8334A>C (p.Pro2778=) c.8343A>C (p.Pro2781=) c.2353A>C c.2007A>C (p.Pro669=) c.2443A>C c.8331A>C (p.Pro2777=) n.46A>C c.8340A>C (p.Pro2780=) c.8322A>C (p.Pro2774=) c.8250A>C (p.Pro2750=) n.10663A>C n.9652A>C | |
12 | g.49039254T= | CA2034959077 | KMT2D | n.33A= c.8334A= (p.Pro2778=) c.8343A= (p.Pro2781=) c.2353A= c.2007A= (p.Pro669=) c.2443A= c.8331A= (p.Pro2777=) n.46A= c.8340A= (p.Pro2780=) c.8322A= (p.Pro2774=) c.8250A= (p.Pro2750=) n.10663A= n.9652A= | |
12 | g.49039255G>A | CA236646052 | KMT2D | n.32C>T c.8333C>T (p.Pro2778Leu) c.8342C>T (p.Pro2781Leu) c.2352C>T c.2006C>T (p.Pro669Leu) c.2442C>T c.8330C>T (p.Pro2777Leu) n.45C>T c.8339C>T (p.Pro2780Leu) c.8321C>T (p.Pro2774Leu) c.8249C>T (p.Pro2750Leu) n.10662C>T n.9651C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039255G>C | CA384742675 | KMT2D | n.32C>G c.8333C>G (p.Pro2778Arg) c.8342C>G (p.Pro2781Arg) c.2352C>G c.2006C>G (p.Pro669Arg) c.2442C>G c.8330C>G (p.Pro2777Arg) n.45C>G c.8339C>G (p.Pro2780Arg) c.8321C>G (p.Pro2774Arg) c.8249C>G (p.Pro2750Arg) n.10662C>G n.9651C>G | |
12 | g.49039255G= | CA2034959080 | KMT2D | n.32C= c.8333C= (p.Pro2778=) c.8342C= (p.Pro2781=) c.2352C= c.2006C= (p.Pro669=) c.2442C= c.8330C= (p.Pro2777=) n.45C= c.8339C= (p.Pro2780=) c.8321C= (p.Pro2774=) c.8249C= (p.Pro2750=) n.10662C= n.9651C= | |
12 | g.49039255G>T | CA384742677 | KMT2D | n.32C>A c.8333C>A (p.Pro2778Gln) c.8342C>A (p.Pro2781Gln) c.2352C>A c.2006C>A (p.Pro669Gln) c.2442C>A c.8330C>A (p.Pro2777Gln) n.45C>A c.8339C>A (p.Pro2780Gln) c.8321C>A (p.Pro2774Gln) c.8249C>A (p.Pro2750Gln) n.10662C>A n.9651C>A | |
12 | g.49039256G>A | CA384742678 | KMT2D | n.31C>T c.8332C>T (p.Pro2778Ser) c.8341C>T (p.Pro2781Ser) c.2351C>T c.2005C>T (p.Pro669Ser) c.2441C>T c.8329C>T (p.Pro2777Ser) n.44C>T c.8338C>T (p.Pro2780Ser) c.8320C>T (p.Pro2774Ser) c.8248C>T (p.Pro2750Ser) n.10661C>T n.9650C>T | dbSNP gnomAD v4 |
12 | g.49039256G>C | CA384742682 | KMT2D | n.31C>G c.8332C>G (p.Pro2778Ala) c.8341C>G (p.Pro2781Ala) c.2351C>G c.2005C>G (p.Pro669Ala) c.2441C>G c.8329C>G (p.Pro2777Ala) n.44C>G c.8338C>G (p.Pro2780Ala) c.8320C>G (p.Pro2774Ala) c.8248C>G (p.Pro2750Ala) n.10661C>G n.9650C>G | |
12 | g.49039256G= | CA2034959084 | KMT2D | n.31C= c.8332C= (p.Pro2778=) c.8341C= (p.Pro2781=) c.2351C= c.2005C= (p.Pro669=) c.2441C= c.8329C= (p.Pro2777=) n.44C= c.8338C= (p.Pro2780=) c.8320C= (p.Pro2774=) c.8248C= (p.Pro2750=) n.10661C= n.9650C= | |
12 | g.49039256G>T | CA384742679 | KMT2D | n.31C>A c.8332C>A (p.Pro2778Thr) c.8341C>A (p.Pro2781Thr) c.2351C>A c.2005C>A (p.Pro669Thr) c.2441C>A c.8329C>A (p.Pro2777Thr) n.44C>A c.8338C>A (p.Pro2780Thr) c.8320C>A (p.Pro2774Thr) c.8248C>A (p.Pro2750Thr) n.10661C>A n.9650C>A | |
12 | g.49039257T>A | CA479710565 | KMT2D | n.30A>T c.8331A>T (p.Pro2777=) c.8340A>T (p.Pro2780=) c.2350A>T c.2004A>T (p.Pro668=) c.2440A>T c.8328A>T (p.Pro2776=) n.43A>T c.8337A>T (p.Pro2779=) c.8319A>T (p.Pro2773=) c.8247A>T (p.Pro2749=) n.10660A>T n.9649A>T | |
12 | g.49039257T>C | CA6546861 | KMT2D | n.30A>G c.8331A>G (p.Pro2777=) c.8340A>G (p.Pro2780=) c.2350A>G c.2004A>G (p.Pro668=) c.2440A>G c.8328A>G (p.Pro2776=) n.43A>G c.8337A>G (p.Pro2779=) c.8319A>G (p.Pro2773=) c.8247A>G (p.Pro2749=) n.10660A>G n.9649A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039257T>G | CA6546860 | KMT2D | n.30A>C c.8331A>C (p.Pro2777=) c.8340A>C (p.Pro2780=) c.2350A>C c.2004A>C (p.Pro668=) c.2440A>C c.8328A>C (p.Pro2776=) n.43A>C c.8337A>C (p.Pro2779=) c.8319A>C (p.Pro2773=) c.8247A>C (p.Pro2749=) n.10660A>C n.9649A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039257T= | CA2034959088 | KMT2D | n.30A= c.8331A= (p.Pro2777=) c.8340A= (p.Pro2780=) c.2350A= c.2004A= (p.Pro668=) c.2440A= c.8328A= (p.Pro2776=) n.43A= c.8337A= (p.Pro2779=) c.8319A= (p.Pro2773=) c.8247A= (p.Pro2749=) n.10660A= n.9649A= | |
12 | g.49039258G>A | CA6546862 | KMT2D | n.29C>T c.8330C>T (p.Pro2777Leu) c.8339C>T (p.Pro2780Leu) c.2349C>T c.2003C>T (p.Pro668Leu) c.2439C>T c.8327C>T (p.Pro2776Leu) n.42C>T c.8336C>T (p.Pro2779Leu) c.8318C>T (p.Pro2773Leu) c.8246C>T (p.Pro2749Leu) n.10659C>T n.9648C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039258G>C | CA384742688 | KMT2D | n.29C>G c.8330C>G (p.Pro2777Arg) c.8339C>G (p.Pro2780Arg) c.2349C>G c.2003C>G (p.Pro668Arg) c.2439C>G c.8327C>G (p.Pro2776Arg) n.42C>G c.8336C>G (p.Pro2779Arg) c.8318C>G (p.Pro2773Arg) c.8246C>G (p.Pro2749Arg) n.10659C>G n.9648C>G | |
12 | g.49039258G= | CA2034959093 | KMT2D | n.29C= c.8330C= (p.Pro2777=) c.8339C= (p.Pro2780=) c.2349C= c.2003C= (p.Pro668=) c.2439C= c.8327C= (p.Pro2776=) n.42C= c.8336C= (p.Pro2779=) c.8318C= (p.Pro2773=) c.8246C= (p.Pro2749=) n.10659C= n.9648C= | |
12 | g.49039258G>T | CA384742691 | KMT2D | n.29C>A c.8330C>A (p.Pro2777Gln) c.8339C>A (p.Pro2780Gln) c.2349C>A c.2003C>A (p.Pro668Gln) c.2439C>A c.8327C>A (p.Pro2776Gln) n.42C>A c.8336C>A (p.Pro2779Gln) c.8318C>A (p.Pro2773Gln) c.8246C>A (p.Pro2749Gln) n.10659C>A n.9648C>A | |
12 | g.49039259G>A | CA384742694 | KMT2D | n.28C>T c.8329C>T (p.Pro2777Ser) c.8338C>T (p.Pro2780Ser) c.2348C>T c.2002C>T (p.Pro668Ser) c.2438C>T c.8326C>T (p.Pro2776Ser) n.41C>T c.8335C>T (p.Pro2779Ser) c.8317C>T (p.Pro2773Ser) c.8245C>T (p.Pro2749Ser) n.10658C>T n.9647C>T | |
12 | g.49039259G>C | CA236646057 | KMT2D | n.28C>G c.8329C>G (p.Pro2777Ala) c.8338C>G (p.Pro2780Ala) c.2348C>G c.2002C>G (p.Pro668Ala) c.2438C>G c.8326C>G (p.Pro2776Ala) n.41C>G c.8335C>G (p.Pro2779Ala) c.8317C>G (p.Pro2773Ala) c.8245C>G (p.Pro2749Ala) n.10658C>G n.9647C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039259G= | CA2034959094 | KMT2D | n.28C= c.8329C= (p.Pro2777=) c.8338C= (p.Pro2780=) c.2348C= c.2002C= (p.Pro668=) c.2438C= c.8326C= (p.Pro2776=) n.41C= c.8335C= (p.Pro2779=) c.8317C= (p.Pro2773=) c.8245C= (p.Pro2749=) n.10658C= n.9647C= | |
12 | g.49039259G>T | CA384742699 | KMT2D | n.28C>A c.8329C>A (p.Pro2777Thr) c.8338C>A (p.Pro2780Thr) c.2348C>A c.2002C>A (p.Pro668Thr) c.2438C>A c.8326C>A (p.Pro2776Thr) n.41C>A c.8335C>A (p.Pro2779Thr) c.8317C>A (p.Pro2773Thr) c.8245C>A (p.Pro2749Thr) n.10658C>A n.9647C>A | |
12 | g.49039260A= | CA2034959096 | KMT2D | n.27T= c.8328T= (p.Pro2776=) c.8337T= (p.Pro2779=) c.2347T= c.2001T= (p.Pro667=) c.2437T= c.8325T= (p.Pro2775=) n.40T= c.8334T= (p.Pro2778=) c.8316T= (p.Pro2772=) c.8244T= (p.Pro2748=) n.10657T= n.9646T= | |
12 | g.49039260A>C | CA479710570 | KMT2D | n.27T>G c.8328T>G (p.Pro2776=) c.8337T>G (p.Pro2779=) c.2347T>G c.2001T>G (p.Pro667=) c.2437T>G c.8325T>G (p.Pro2775=) n.40T>G c.8334T>G (p.Pro2778=) c.8316T>G (p.Pro2772=) c.8244T>G (p.Pro2748=) n.10657T>G n.9646T>G | |
12 | g.49039260A>G | CA6546863 | KMT2D | n.27T>C c.8328T>C (p.Pro2776=) c.8337T>C (p.Pro2779=) c.2347T>C c.2001T>C (p.Pro667=) c.2437T>C c.8325T>C (p.Pro2775=) n.40T>C c.8334T>C (p.Pro2778=) c.8316T>C (p.Pro2772=) c.8244T>C (p.Pro2748=) n.10657T>C n.9646T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039260A>T | CA479710572 | KMT2D | n.27T>A c.8328T>A (p.Pro2776=) c.8337T>A (p.Pro2779=) c.2347T>A c.2001T>A (p.Pro667=) c.2437T>A c.8325T>A (p.Pro2775=) n.40T>A c.8334T>A (p.Pro2778=) c.8316T>A (p.Pro2772=) c.8244T>A (p.Pro2748=) n.10657T>A n.9646T>A | |
12 | g.49039261G>A | CA384742703 | KMT2D | n.26C>T c.8327C>T (p.Pro2776Leu) c.8336C>T (p.Pro2779Leu) c.2346C>T c.2000C>T (p.Pro667Leu) c.2436C>T c.8324C>T (p.Pro2775Leu) n.39C>T c.8333C>T (p.Pro2778Leu) c.8315C>T (p.Pro2772Leu) c.8243C>T (p.Pro2748Leu) n.10656C>T n.9645C>T | dbSNP |
12 | g.49039261G>C | CA384742706 | KMT2D | n.26C>G c.8327C>G (p.Pro2776Arg) c.8336C>G (p.Pro2779Arg) c.2346C>G c.2000C>G (p.Pro667Arg) c.2436C>G c.8324C>G (p.Pro2775Arg) n.39C>G c.8333C>G (p.Pro2778Arg) c.8315C>G (p.Pro2772Arg) c.8243C>G (p.Pro2748Arg) n.10656C>G n.9645C>G | |
12 | g.49039261G>T | CA384742709 | KMT2D | n.26C>A c.8327C>A (p.Pro2776His) c.8336C>A (p.Pro2779His) c.2346C>A c.2000C>A (p.Pro667His) c.2436C>A c.8324C>A (p.Pro2775His) n.39C>A c.8333C>A (p.Pro2778His) c.8315C>A (p.Pro2772His) c.8243C>A (p.Pro2748His) n.10656C>A n.9645C>A | |
12 | g.49039262G>A | CA384742712 | KMT2D | n.25C>T c.8326C>T (p.Pro2776Ser) c.8335C>T (p.Pro2779Ser) c.2345C>T c.1999C>T (p.Pro667Ser) c.2435C>T c.8323C>T (p.Pro2775Ser) n.38C>T c.8332C>T (p.Pro2778Ser) c.8314C>T (p.Pro2772Ser) c.8242C>T (p.Pro2748Ser) n.10655C>T n.9644C>T | dbSNP |
12 | g.49039262G>C | CA384742716 | KMT2D | n.25C>G c.8326C>G (p.Pro2776Ala) c.8335C>G (p.Pro2779Ala) c.2345C>G c.1999C>G (p.Pro667Ala) c.2435C>G c.8323C>G (p.Pro2775Ala) n.38C>G c.8332C>G (p.Pro2778Ala) c.8314C>G (p.Pro2772Ala) c.8242C>G (p.Pro2748Ala) n.10655C>G n.9644C>G | |
12 | g.49039262G= | CA2034959099 | KMT2D | n.25C= c.8326C= (p.Pro2776=) c.8335C= (p.Pro2779=) c.2345C= c.1999C= (p.Pro667=) c.2435C= c.8323C= (p.Pro2775=) n.38C= c.8332C= (p.Pro2778=) c.8314C= (p.Pro2772=) c.8242C= (p.Pro2748=) n.10655C= n.9644C= | |
12 | g.49039262G>T | CA384742714 | KMT2D | n.25C>A c.8326C>A (p.Pro2776Thr) c.8335C>A (p.Pro2779Thr) c.2345C>A c.1999C>A (p.Pro667Thr) c.2435C>A c.8323C>A (p.Pro2775Thr) n.38C>A c.8332C>A (p.Pro2778Thr) c.8314C>A (p.Pro2772Thr) c.8242C>A (p.Pro2748Thr) n.10655C>A n.9644C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039263T>A | CA479710576 | KMT2D | n.24A>T c.8325A>T (p.Pro2775=) c.8334A>T (p.Pro2778=) c.2344A>T c.1998A>T (p.Pro666=) c.2434A>T c.8322A>T (p.Pro2774=) n.37A>T c.8331A>T (p.Pro2777=) c.8313A>T (p.Pro2771=) c.8241A>T (p.Pro2747=) n.10654A>T n.9643A>T | dbSNP |
12 | g.49039263T>C | CA479710577 | KMT2D | n.24A>G c.8325A>G (p.Pro2775=) c.8334A>G (p.Pro2778=) c.2344A>G c.1998A>G (p.Pro666=) c.2434A>G c.8322A>G (p.Pro2774=) n.37A>G c.8331A>G (p.Pro2777=) c.8313A>G (p.Pro2771=) c.8241A>G (p.Pro2747=) n.10654A>G n.9643A>G | dbSNP |
12 | g.49039263T>G | CA6546864 | KMT2D | n.24A>C c.8325A>C (p.Pro2775=) c.8334A>C (p.Pro2778=) c.2344A>C c.1998A>C (p.Pro666=) c.2434A>C c.8322A>C (p.Pro2774=) n.37A>C c.8331A>C (p.Pro2777=) c.8313A>C (p.Pro2771=) c.8241A>C (p.Pro2747=) n.10654A>C n.9643A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039263T= | CA2034959103 | KMT2D | n.24A= c.8325A= (p.Pro2775=) c.8334A= (p.Pro2778=) c.2344A= c.1998A= (p.Pro666=) c.2434A= c.8322A= (p.Pro2774=) n.37A= c.8331A= (p.Pro2777=) c.8313A= (p.Pro2771=) c.8241A= (p.Pro2747=) n.10654A= n.9643A= | |
12 | g.49039263_49039291del | CA645579660 | KMT2D | c.8297_8325del (p.Phe2766SerfsTer?) c.8306_8334del (p.Phe2769SerfsTer?) c.2316_2344del c.1970_1998del (p.Phe657SerfsTer?) c.2406_2434del c.8294_8322del (p.Phe2765SerfsTer?) n.9_37del c.8303_8331del (p.Phe2768SerfsTer?) c.8285_8313del (p.Phe2762SerfsTer?) c.8213_8241del (p.Phe2738SerfsTer?) n.10626_10654del n.9615_9643del | COSMIC COSMIC |
12 | g.49039264G>A | CA384742721 | KMT2D | n.23C>T c.8324C>T (p.Pro2775Leu) c.8333C>T (p.Pro2778Leu) c.2343C>T c.1997C>T (p.Pro666Leu) c.2433C>T c.8321C>T (p.Pro2774Leu) n.36C>T c.8330C>T (p.Pro2777Leu) c.8312C>T (p.Pro2771Leu) c.8240C>T (p.Pro2747Leu) n.10653C>T n.9642C>T | |
12 | g.49039264G>C | CA384742722 | KMT2D | n.23C>G c.8324C>G (p.Pro2775Arg) c.8333C>G (p.Pro2778Arg) c.2343C>G c.1997C>G (p.Pro666Arg) c.2433C>G c.8321C>G (p.Pro2774Arg) n.36C>G c.8330C>G (p.Pro2777Arg) c.8312C>G (p.Pro2771Arg) c.8240C>G (p.Pro2747Arg) n.10653C>G n.9642C>G | |
12 | g.49039264G>T | CA384742725 | KMT2D | n.23C>A c.8324C>A (p.Pro2775Gln) c.8333C>A (p.Pro2778Gln) c.2343C>A c.1997C>A (p.Pro666Gln) c.2433C>A c.8321C>A (p.Pro2774Gln) n.36C>A c.8330C>A (p.Pro2777Gln) c.8312C>A (p.Pro2771Gln) c.8240C>A (p.Pro2747Gln) n.10653C>A n.9642C>A | |
12 | g.49039265G>A | CA384742727 | KMT2D | n.22C>T c.8323C>T (p.Pro2775Ser) c.8332C>T (p.Pro2778Ser) c.2342C>T c.1996C>T (p.Pro666Ser) c.2432C>T c.8320C>T (p.Pro2774Ser) n.35C>T c.8329C>T (p.Pro2777Ser) c.8311C>T (p.Pro2771Ser) c.8239C>T (p.Pro2747Ser) n.10652C>T n.9641C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039265G>C | CA384742729 | KMT2D | n.22C>G c.8323C>G (p.Pro2775Ala) c.8332C>G (p.Pro2778Ala) c.2342C>G c.1996C>G (p.Pro666Ala) c.2432C>G c.8320C>G (p.Pro2774Ala) n.35C>G c.8329C>G (p.Pro2777Ala) c.8311C>G (p.Pro2771Ala) c.8239C>G (p.Pro2747Ala) n.10652C>G n.9641C>G | |
12 | g.49039265G= | CA2034959104 | KMT2D | n.22C= c.8323C= (p.Pro2775=) c.8332C= (p.Pro2778=) c.2342C= c.1996C= (p.Pro666=) c.2432C= c.8320C= (p.Pro2774=) n.35C= c.8329C= (p.Pro2777=) c.8311C= (p.Pro2771=) c.8239C= (p.Pro2747=) n.10652C= n.9641C= | |
12 | g.49039265G>T | CA384742730 | KMT2D | n.22C>A c.8323C>A (p.Pro2775Thr) c.8332C>A (p.Pro2778Thr) c.2342C>A c.1996C>A (p.Pro666Thr) c.2432C>A c.8320C>A (p.Pro2774Thr) n.35C>A c.8329C>A (p.Pro2777Thr) c.8311C>A (p.Pro2771Thr) c.8239C>A (p.Pro2747Thr) n.10652C>A n.9641C>A | |
12 | g.49039266C>A | CA479710583 | KMT2D | n.21G>T c.8322G>T (p.Arg2774=) c.8331G>T (p.Arg2777=) c.2341G>T c.1995G>T (p.Arg665=) c.2431G>T c.8319G>T (p.Arg2773=) n.34G>T c.8328G>T (p.Arg2776=) c.8310G>T (p.Arg2770=) c.8238G>T (p.Arg2746=) n.10651G>T n.9640G>T | |
12 | g.49039266C>G | CA479710581 | KMT2D | n.21G>C c.8322G>C (p.Arg2774=) c.8331G>C (p.Arg2777=) c.2341G>C c.1995G>C (p.Arg665=) c.2431G>C c.8319G>C (p.Arg2773=) n.34G>C c.8328G>C (p.Arg2776=) c.8310G>C (p.Arg2770=) c.8238G>C (p.Arg2746=) n.10651G>C n.9640G>C | dbSNP |
12 | g.49039266C>T | CA479710582 | KMT2D | n.21G>A c.8322G>A (p.Arg2774=) c.8331G>A (p.Arg2777=) c.2341G>A c.1995G>A (p.Arg665=) c.2431G>A c.8319G>A (p.Arg2773=) n.34G>A c.8328G>A (p.Arg2776=) c.8310G>A (p.Arg2770=) c.8238G>A (p.Arg2746=) n.10651G>A n.9640G>A | dbSNP |
12 | g.49039267C>A | CA6546866 | KMT2D | n.20G>T c.8321G>T (p.Arg2774Leu) c.8330G>T (p.Arg2777Leu) c.2340G>T c.1994G>T (p.Arg665Leu) c.2430G>T c.8318G>T (p.Arg2773Leu) n.33G>T c.8327G>T (p.Arg2776Leu) c.8309G>T (p.Arg2770Leu) c.8237G>T (p.Arg2746Leu) n.10650G>T n.9639G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039267C= | CA2034959109 | KMT2D | n.20G= c.8321G= (p.Arg2774=) c.8330G= (p.Arg2777=) c.2340G= c.1994G= (p.Arg665=) c.2430G= c.8318G= (p.Arg2773=) n.33G= c.8327G= (p.Arg2776=) c.8309G= (p.Arg2770=) c.8237G= (p.Arg2746=) n.10650G= n.9639G= | |
12 | g.49039267C>G | CA236646070 | KMT2D | n.20G>C c.8321G>C (p.Arg2774Pro) c.8330G>C (p.Arg2777Pro) c.2340G>C c.1994G>C (p.Arg665Pro) c.2430G>C c.8318G>C (p.Arg2773Pro) n.33G>C c.8327G>C (p.Arg2776Pro) c.8309G>C (p.Arg2770Pro) c.8237G>C (p.Arg2746Pro) n.10650G>C n.9639G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039267C>T | CA6546865 | KMT2D | n.20G>A c.8321G>A (p.Arg2774Gln) c.8330G>A (p.Arg2777Gln) c.2340G>A c.1994G>A (p.Arg665Gln) c.2430G>A c.8318G>A (p.Arg2773Gln) n.33G>A c.8327G>A (p.Arg2776Gln) c.8309G>A (p.Arg2770Gln) c.8237G>A (p.Arg2746Gln) n.10650G>A n.9639G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039268G>A | CA6546867 | KMT2D | n.19C>T c.8320C>T (p.Arg2774Trp) c.8329C>T (p.Arg2777Trp) c.2339C>T c.1993C>T (p.Arg665Trp) c.2429C>T c.8317C>T (p.Arg2773Trp) n.32C>T c.8326C>T (p.Arg2776Trp) c.8308C>T (p.Arg2770Trp) c.8236C>T (p.Arg2746Trp) n.10649C>T n.9638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039268G>C | CA384742738 | KMT2D | n.19C>G c.8320C>G (p.Arg2774Gly) c.8329C>G (p.Arg2777Gly) c.2339C>G c.1993C>G (p.Arg665Gly) c.2429C>G c.8317C>G (p.Arg2773Gly) n.32C>G c.8326C>G (p.Arg2776Gly) c.8308C>G (p.Arg2770Gly) c.8236C>G (p.Arg2746Gly) n.10649C>G n.9638C>G | |
12 | g.49039268G= | CA2034959113 | KMT2D | n.19C= c.8320C= (p.Arg2774=) c.8329C= (p.Arg2777=) c.2339C= c.1993C= (p.Arg665=) c.2429C= c.8317C= (p.Arg2773=) n.32C= c.8326C= (p.Arg2776=) c.8308C= (p.Arg2770=) c.8236C= (p.Arg2746=) n.10649C= n.9638C= | |
12 | g.49039268G>T | CA479710585 | KMT2D | n.19C>A c.8320C>A (p.Arg2774=) c.8329C>A (p.Arg2777=) c.2339C>A c.1993C>A (p.Arg665=) c.2429C>A c.8317C>A (p.Arg2773=) n.32C>A c.8326C>A (p.Arg2776=) c.8308C>A (p.Arg2770=) c.8236C>A (p.Arg2746=) n.10649C>A n.9638C>A | COSMIC COSMIC |
12 | g.49039269G>A | CA479710587 | KMT2D | n.18C>T c.8319C>T (p.Ser2773=) c.8328C>T (p.Ser2776=) c.2338C>T c.1992C>T (p.Ser664=) c.2428C>T c.8316C>T (p.Ser2772=) n.31C>T c.8325C>T (p.Ser2775=) c.8307C>T (p.Ser2769=) c.8235C>T (p.Ser2745=) n.10648C>T n.9637C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039269G>C | CA479710590 | KMT2D | n.18C>G c.8319C>G (p.Ser2773=) c.8328C>G (p.Ser2776=) c.2338C>G c.1992C>G (p.Ser664=) c.2428C>G c.8316C>G (p.Ser2772=) n.31C>G c.8325C>G (p.Ser2775=) c.8307C>G (p.Ser2769=) c.8235C>G (p.Ser2745=) n.10648C>G n.9637C>G | |
12 | g.49039269G= | CA2034959116 | KMT2D | n.18C= c.8319C= (p.Ser2773=) c.8328C= (p.Ser2776=) c.2338C= c.1992C= (p.Ser664=) c.2428C= c.8316C= (p.Ser2772=) n.31C= c.8325C= (p.Ser2775=) c.8307C= (p.Ser2769=) c.8235C= (p.Ser2745=) n.10648C= n.9637C= | |
12 | g.49039269G>T | CA479710589 | KMT2D | n.18C>A c.8319C>A (p.Ser2773=) c.8328C>A (p.Ser2776=) c.2338C>A c.1992C>A (p.Ser664=) c.2428C>A c.8316C>A (p.Ser2772=) n.31C>A c.8325C>A (p.Ser2775=) c.8307C>A (p.Ser2769=) c.8235C>A (p.Ser2745=) n.10648C>A n.9637C>A | |
12 | g.49039269_49039270insAGAGTCG | CA645579661 | KMT2D | n.18_19insGACTCTC c.8319_8320insGACTCTC (p.Arg2774AspfsTer?) c.8328_8329insGACTCTC (p.Arg2777AspfsTer?) c.2338_2339insGACTCTC c.1992_1993insGACTCTC (p.Arg665AspfsTer?) c.2428_2429insGACTCTC c.8316_8317insGACTCTC (p.Arg2773AspfsTer?) n.31_32insGACTCTC c.8325_8326insGACTCTC (p.Arg2776AspfsTer?) c.8307_8308insGACTCTC (p.Arg2770AspfsTer?) c.8235_8236insGACTCTC (p.Arg2746AspfsTer?) n.10648_10649insGACTCTC n.9637_9638insGACTCTC | COSMIC COSMIC |
12 | g.49039270G>A | CA384742739 | KMT2D | n.17C>T c.8318C>T (p.Ser2773Phe) c.8327C>T (p.Ser2776Phe) c.2337C>T c.1991C>T (p.Ser664Phe) c.2427C>T c.8315C>T (p.Ser2772Phe) n.30C>T c.8324C>T (p.Ser2775Phe) c.8306C>T (p.Ser2769Phe) c.8234C>T (p.Ser2745Phe) n.10647C>T n.9636C>T | |
12 | g.49039270G>C | CA384742741 | KMT2D | n.17C>G c.8318C>G (p.Ser2773Cys) c.8327C>G (p.Ser2776Cys) c.2337C>G c.1991C>G (p.Ser664Cys) c.2427C>G c.8315C>G (p.Ser2772Cys) n.30C>G c.8324C>G (p.Ser2775Cys) c.8306C>G (p.Ser2769Cys) c.8234C>G (p.Ser2745Cys) n.10647C>G n.9636C>G | |
12 | g.49039270G>T | CA384742742 | KMT2D | n.17C>A c.8318C>A (p.Ser2773Tyr) c.8327C>A (p.Ser2776Tyr) c.2337C>A c.1991C>A (p.Ser664Tyr) c.2427C>A c.8315C>A (p.Ser2772Tyr) n.30C>A c.8324C>A (p.Ser2775Tyr) c.8306C>A (p.Ser2769Tyr) c.8234C>A (p.Ser2745Tyr) n.10647C>A n.9636C>A | |
12 | g.49039271A= | CA2034959120 | KMT2D | n.16T= c.8317T= (p.Ser2773=) c.8326T= (p.Ser2776=) c.2336T= c.1990T= (p.Ser664=) c.2426T= c.8314T= (p.Ser2772=) n.29T= c.8323T= (p.Ser2775=) c.8305T= (p.Ser2769=) c.8233T= (p.Ser2745=) n.10646T= n.9635T= | |
12 | g.49039271A>C | CA384742744 | KMT2D | n.16T>G c.8317T>G (p.Ser2773Ala) c.8326T>G (p.Ser2776Ala) c.2336T>G c.1990T>G (p.Ser664Ala) c.2426T>G c.8314T>G (p.Ser2772Ala) n.29T>G c.8323T>G (p.Ser2775Ala) c.8305T>G (p.Ser2769Ala) c.8233T>G (p.Ser2745Ala) n.10646T>G n.9635T>G | |
12 | g.49039271A>G | CA236646085 | KMT2D | n.16T>C c.8317T>C (p.Ser2773Pro) c.8326T>C (p.Ser2776Pro) c.2336T>C c.1990T>C (p.Ser664Pro) c.2426T>C c.8314T>C (p.Ser2772Pro) n.29T>C c.8323T>C (p.Ser2775Pro) c.8305T>C (p.Ser2769Pro) c.8233T>C (p.Ser2745Pro) n.10646T>C n.9635T>C | ClinVar dbSNP |
12 | g.49039271A>T | CA384742749 | KMT2D | n.16T>A c.8317T>A (p.Ser2773Thr) c.8326T>A (p.Ser2776Thr) c.2336T>A c.1990T>A (p.Ser664Thr) c.2426T>A c.8314T>A (p.Ser2772Thr) n.29T>A c.8323T>A (p.Ser2775Thr) c.8305T>A (p.Ser2769Thr) c.8233T>A (p.Ser2745Thr) n.10646T>A n.9635T>A | |
12 | g.49039272G>A | CA479710592 | KMT2D | n.15C>T c.8316C>T (p.Leu2772=) c.8325C>T (p.Leu2775=) c.2335C>T c.1989C>T (p.Leu663=) c.2425C>T c.8313C>T (p.Leu2771=) n.28C>T c.8322C>T (p.Leu2774=) c.8304C>T (p.Leu2768=) c.8232C>T (p.Leu2744=) n.10645C>T n.9634C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039272G>C | CA479710594 | KMT2D | n.15C>G c.8316C>G (p.Leu2772=) c.8325C>G (p.Leu2775=) c.2335C>G c.1989C>G (p.Leu663=) c.2425C>G c.8313C>G (p.Leu2771=) n.28C>G c.8322C>G (p.Leu2774=) c.8304C>G (p.Leu2768=) c.8232C>G (p.Leu2744=) n.10645C>G n.9634C>G | dbSNP |
12 | g.49039272G= | CA2034959122 | KMT2D | n.15C= c.8316C= (p.Leu2772=) c.8325C= (p.Leu2775=) c.2335C= c.1989C= (p.Leu663=) c.2425C= c.8313C= (p.Leu2771=) n.28C= c.8322C= (p.Leu2774=) c.8304C= (p.Leu2768=) c.8232C= (p.Leu2744=) n.10645C= n.9634C= | |
12 | g.49039272G>T | CA479710595 | KMT2D | n.15C>A c.8316C>A (p.Leu2772=) c.8325C>A (p.Leu2775=) c.2335C>A c.1989C>A (p.Leu663=) c.2425C>A c.8313C>A (p.Leu2771=) n.28C>A c.8322C>A (p.Leu2774=) c.8304C>A (p.Leu2768=) c.8232C>A (p.Leu2744=) n.10645C>A n.9634C>A | |
12 | g.49039273A>C | CA384742752 | KMT2D | n.14T>G c.8315T>G (p.Leu2772Arg) c.8324T>G (p.Leu2775Arg) c.2334T>G c.1988T>G (p.Leu663Arg) c.2424T>G c.8312T>G (p.Leu2771Arg) n.27T>G c.8321T>G (p.Leu2774Arg) c.8303T>G (p.Leu2768Arg) c.8231T>G (p.Leu2744Arg) n.10644T>G n.9633T>G | |
12 | g.49039273A>G | CA384742754 | KMT2D | n.14T>C c.8315T>C (p.Leu2772Pro) c.8324T>C (p.Leu2775Pro) c.2334T>C c.1988T>C (p.Leu663Pro) c.2424T>C c.8312T>C (p.Leu2771Pro) n.27T>C c.8321T>C (p.Leu2774Pro) c.8303T>C (p.Leu2768Pro) c.8231T>C (p.Leu2744Pro) n.10644T>C n.9633T>C | |
12 | g.49039273A>T | CA384742758 | KMT2D | n.14T>A c.8315T>A (p.Leu2772His) c.8324T>A (p.Leu2775His) c.2334T>A c.1988T>A (p.Leu663His) c.2424T>A c.8312T>A (p.Leu2771His) n.27T>A c.8321T>A (p.Leu2774His) c.8303T>A (p.Leu2768His) c.8231T>A (p.Leu2744His) n.10644T>A n.9633T>A | |
12 | g.49039274G>A | CA236646101 | KMT2D | n.13C>T c.8314C>T (p.Leu2772Phe) c.8323C>T (p.Leu2775Phe) c.2333C>T c.1987C>T (p.Leu663Phe) c.2423C>T c.8311C>T (p.Leu2771Phe) n.26C>T c.8320C>T (p.Leu2774Phe) c.8302C>T (p.Leu2768Phe) c.8230C>T (p.Leu2744Phe) n.10643C>T n.9632C>T | ClinVar dbSNP gnomAD v4 |
12 | g.49039274G>C | CA384742763 | KMT2D | n.13C>G c.8314C>G (p.Leu2772Val) c.8323C>G (p.Leu2775Val) c.2333C>G c.1987C>G (p.Leu663Val) c.2423C>G c.8311C>G (p.Leu2771Val) n.26C>G c.8320C>G (p.Leu2774Val) c.8302C>G (p.Leu2768Val) c.8230C>G (p.Leu2744Val) n.10643C>G n.9632C>G | dbSNP |
12 | g.49039274G= | CA2034959126 | KMT2D | n.13C= c.8314C= (p.Leu2772=) c.8323C= (p.Leu2775=) c.2333C= c.1987C= (p.Leu663=) c.2423C= c.8311C= (p.Leu2771=) n.26C= c.8320C= (p.Leu2774=) c.8302C= (p.Leu2768=) c.8230C= (p.Leu2744=) n.10643C= n.9632C= | |
12 | g.49039274G>T | CA384742766 | KMT2D | n.13C>A c.8314C>A (p.Leu2772Ile) c.8323C>A (p.Leu2775Ile) c.2333C>A c.1987C>A (p.Leu663Ile) c.2423C>A c.8311C>A (p.Leu2771Ile) n.26C>A c.8320C>A (p.Leu2774Ile) c.8302C>A (p.Leu2768Ile) c.8230C>A (p.Leu2744Ile) n.10643C>A n.9632C>A | |
12 | g.49039275T>A | CA479710600 | KMT2D | n.12A>T c.8313A>T (p.Arg2771=) c.8322A>T (p.Arg2774=) c.2332A>T c.1986A>T (p.Arg662=) c.2422A>T c.8310A>T (p.Arg2770=) n.25A>T c.8319A>T (p.Arg2773=) c.8301A>T (p.Arg2767=) c.8229A>T (p.Arg2743=) n.10642A>T n.9631A>T | |
12 | g.49039275T>C | CA479710601 | KMT2D | n.12A>G c.8313A>G (p.Arg2771=) c.8322A>G (p.Arg2774=) c.2332A>G c.1986A>G (p.Arg662=) c.2422A>G c.8310A>G (p.Arg2770=) n.25A>G c.8319A>G (p.Arg2773=) c.8301A>G (p.Arg2767=) c.8229A>G (p.Arg2743=) n.10642A>G n.9631A>G | |
12 | g.49039275T>G | CA479710603 | KMT2D | n.12A>C c.8313A>C (p.Arg2771=) c.8322A>C (p.Arg2774=) c.2332A>C c.1986A>C (p.Arg662=) c.2422A>C c.8310A>C (p.Arg2770=) n.25A>C c.8319A>C (p.Arg2773=) c.8301A>C (p.Arg2767=) c.8229A>C (p.Arg2743=) n.10642A>C n.9631A>C | |
12 | g.49039276C>A | CA384742771 | KMT2D | n.11G>T c.8312G>T (p.Arg2771Leu) c.8321G>T (p.Arg2774Leu) c.2331G>T c.1985G>T (p.Arg662Leu) c.2421G>T c.8309G>T (p.Arg2770Leu) n.24G>T c.8318G>T (p.Arg2773Leu) c.8300G>T (p.Arg2767Leu) c.8228G>T (p.Arg2743Leu) n.10641G>T n.9630G>T | |
12 | g.49039276C= | CA2034959129 | KMT2D | n.11G= c.8312G= (p.Arg2771=) c.8321G= (p.Arg2774=) c.2331G= c.1985G= (p.Arg662=) c.2421G= c.8309G= (p.Arg2770=) n.24G= c.8318G= (p.Arg2773=) c.8300G= (p.Arg2767=) c.8228G= (p.Arg2743=) n.10641G= n.9630G= | |
12 | g.49039276C>G | CA384742773 | KMT2D | n.11G>C c.8312G>C (p.Arg2771Pro) c.8321G>C (p.Arg2774Pro) c.2331G>C c.1985G>C (p.Arg662Pro) c.2421G>C c.8309G>C (p.Arg2770Pro) n.24G>C c.8318G>C (p.Arg2773Pro) c.8300G>C (p.Arg2767Pro) c.8228G>C (p.Arg2743Pro) n.10641G>C n.9630G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039276C>T | CA384742768 | KMT2D | n.11G>A c.8312G>A (p.Arg2771Gln) c.8321G>A (p.Arg2774Gln) c.2331G>A c.1985G>A (p.Arg662Gln) c.2421G>A c.8309G>A (p.Arg2770Gln) n.24G>A c.8318G>A (p.Arg2773Gln) c.8300G>A (p.Arg2767Gln) c.8228G>A (p.Arg2743Gln) n.10641G>A n.9630G>A | ClinVar dbSNP gnomAD v4 |
12 | g.49039277G>A | CA384742778 | KMT2D | n.10C>T c.8311C>T (p.Arg2771Ter) c.8320C>T (p.Arg2774Ter) c.2330C>T c.1984C>T (p.Arg662Ter) c.2420C>T c.8308C>T (p.Arg2770Ter) n.23C>T c.8317C>T (p.Arg2773Ter) c.8299C>T (p.Arg2767Ter) c.8227C>T (p.Arg2743Ter) n.10640C>T n.9629C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.49039277G>C | CA384742779 | KMT2D | n.10C>G c.8311C>G (p.Arg2771Gly) c.8320C>G (p.Arg2774Gly) c.2330C>G c.1984C>G (p.Arg662Gly) c.2420C>G c.8308C>G (p.Arg2770Gly) n.23C>G c.8317C>G (p.Arg2773Gly) c.8299C>G (p.Arg2767Gly) c.8227C>G (p.Arg2743Gly) n.10640C>G n.9629C>G | |
12 | g.49039277G= | CA2034959133 | KMT2D | n.10C= c.8311C= (p.Arg2771=) c.8320C= (p.Arg2774=) c.2330C= c.1984C= (p.Arg662=) c.2420C= c.8308C= (p.Arg2770=) n.23C= c.8317C= (p.Arg2773=) c.8299C= (p.Arg2767=) c.8227C= (p.Arg2743=) n.10640C= n.9629C= | |
12 | g.49039277G>T | CA479710604 | KMT2D | n.10C>A c.8311C>A (p.Arg2771=) c.8320C>A (p.Arg2774=) c.2330C>A c.1984C>A (p.Arg662=) c.2420C>A c.8308C>A (p.Arg2770=) n.23C>A c.8317C>A (p.Arg2773=) c.8299C>A (p.Arg2767=) c.8227C>A (p.Arg2743=) n.10640C>A n.9629C>A | |
12 | g.49039278del | CA2697559197 | KMT2D | n.10del c.8311del (p.Arg2771AspfsTer16) c.8320del (p.Arg2774AspfsTer16) c.2330del c.1984del (p.Arg662AspfsTer16) c.2420del c.8308del (p.Arg2770AspfsTer16) n.23del c.8317del (p.Arg2773AspfsTer16) c.8299del (p.Arg2767AspfsTer16) c.8227del (p.Arg2743AspfsTer16) n.10640del n.9629del | ClinVar |
12 | g.49039278G>A | CA6546868 | KMT2D | n.9C>T c.8310C>T (p.Asp2770=) c.8319C>T (p.Asp2773=) c.2329C>T c.1983C>T (p.Asp661=) c.2419C>T c.8307C>T (p.Asp2769=) n.22C>T c.8316C>T (p.Asp2772=) c.8298C>T (p.Asp2766=) c.8226C>T (p.Asp2742=) n.10639C>T n.9628C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039278G>C | CA384742784 | KMT2D | n.9C>G c.8310C>G (p.Asp2770Glu) c.8319C>G (p.Asp2773Glu) c.2329C>G c.1983C>G (p.Asp661Glu) c.2419C>G c.8307C>G (p.Asp2769Glu) n.22C>G c.8316C>G (p.Asp2772Glu) c.8298C>G (p.Asp2766Glu) c.8226C>G (p.Asp2742Glu) n.10639C>G n.9628C>G | gnomAD v4 |
12 | g.49039278G= | CA2034959140 | KMT2D | n.9C= c.8310C= (p.Asp2770=) c.8319C= (p.Asp2773=) c.2329C= c.1983C= (p.Asp661=) c.2419C= c.8307C= (p.Asp2769=) n.22C= c.8316C= (p.Asp2772=) c.8298C= (p.Asp2766=) c.8226C= (p.Asp2742=) n.10639C= n.9628C= | |
12 | g.49039278G>T | CA384742786 | KMT2D | n.9C>A c.8310C>A (p.Asp2770Glu) c.8319C>A (p.Asp2773Glu) c.2329C>A c.1983C>A (p.Asp661Glu) c.2419C>A c.8307C>A (p.Asp2769Glu) n.22C>A c.8316C>A (p.Asp2772Glu) c.8298C>A (p.Asp2766Glu) c.8226C>A (p.Asp2742Glu) n.10639C>A n.9628C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039279T>A | CA384742793 | KMT2D | n.8A>T c.8309A>T (p.Asp2770Val) c.8318A>T (p.Asp2773Val) c.2328A>T c.1982A>T (p.Asp661Val) c.2418A>T c.8306A>T (p.Asp2769Val) n.21A>T c.8315A>T (p.Asp2772Val) c.8297A>T (p.Asp2766Val) c.8225A>T (p.Asp2742Val) n.10638A>T n.9627A>T | dbSNP |
12 | g.49039279T>C | CA236646106 | KMT2D | n.8A>G c.8309A>G (p.Asp2770Gly) c.8318A>G (p.Asp2773Gly) c.2328A>G c.1982A>G (p.Asp661Gly) c.2418A>G c.8306A>G (p.Asp2769Gly) n.21A>G c.8315A>G (p.Asp2772Gly) c.8297A>G (p.Asp2766Gly) c.8225A>G (p.Asp2742Gly) n.10638A>G n.9627A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039279T>G | CA384742791 | KMT2D | n.8A>C c.8309A>C (p.Asp2770Ala) c.8318A>C (p.Asp2773Ala) c.2328A>C c.1982A>C (p.Asp661Ala) c.2418A>C c.8306A>C (p.Asp2769Ala) n.21A>C c.8315A>C (p.Asp2772Ala) c.8297A>C (p.Asp2766Ala) c.8225A>C (p.Asp2742Ala) n.10638A>C n.9627A>C | dbSNP |
12 | g.49039279T= | CA2034959145 | KMT2D | n.8A= c.8309A= (p.Asp2770=) c.8318A= (p.Asp2773=) c.2328A= c.1982A= (p.Asp661=) c.2418A= c.8306A= (p.Asp2769=) n.21A= c.8315A= (p.Asp2772=) c.8297A= (p.Asp2766=) c.8225A= (p.Asp2742=) n.10638A= n.9627A= | |
12 | g.49039280C>A | CA384742796 | KMT2D | n.7G>T c.8308G>T (p.Asp2770Tyr) c.8317G>T (p.Asp2773Tyr) c.2327G>T c.1981G>T (p.Asp661Tyr) c.2417G>T c.8305G>T (p.Asp2769Tyr) n.20G>T c.8314G>T (p.Asp2772Tyr) c.8296G>T (p.Asp2766Tyr) c.8224G>T (p.Asp2742Tyr) n.10637G>T n.9626G>T | gnomAD v4 |
12 | g.49039280C>G | CA384742798 | KMT2D | n.7G>C c.8308G>C (p.Asp2770His) c.8317G>C (p.Asp2773His) c.2327G>C c.1981G>C (p.Asp661His) c.2417G>C c.8305G>C (p.Asp2769His) n.20G>C c.8314G>C (p.Asp2772His) c.8296G>C (p.Asp2766His) c.8224G>C (p.Asp2742His) n.10637G>C n.9626G>C | |
12 | g.49039280C>T | CA384742800 | KMT2D | n.7G>A c.8308G>A (p.Asp2770Asn) c.8317G>A (p.Asp2773Asn) c.2327G>A c.1981G>A (p.Asp661Asn) c.2417G>A c.8305G>A (p.Asp2769Asn) n.20G>A c.8314G>A (p.Asp2772Asn) c.8296G>A (p.Asp2766Asn) c.8224G>A (p.Asp2742Asn) n.10637G>A n.9626G>A | |
12 | g.49039280_49039281del | CA2695216407 | KMT2D | n.6_7del c.8307_8308del (p.Asp2769GlufsTer?) c.8316_8317del (p.Asp2772GlufsTer?) c.2326_2327del c.1980_1981del (p.Asp660GlufsTer?) c.2416_2417del c.8304_8305del (p.Asp2768GlufsTer?) n.19_20del c.8313_8314del (p.Asp2771GlufsTer?) c.8295_8296del (p.Asp2765GlufsTer?) c.8223_8224del (p.Asp2741GlufsTer?) n.10636_10637del n.9625_9626del | |
12 | g.49039281A>C | CA384742803 | KMT2D | n.6T>G c.8307T>G (p.Asp2769Glu) c.8316T>G (p.Asp2772Glu) c.2326T>G c.1980T>G (p.Asp660Glu) c.2416T>G c.8304T>G (p.Asp2768Glu) n.19T>G c.8313T>G (p.Asp2771Glu) c.8295T>G (p.Asp2765Glu) c.8223T>G (p.Asp2741Glu) n.10636T>G n.9625T>G | |
12 | g.49039281A>G | CA479710611 | KMT2D | n.6T>C c.8307T>C (p.Asp2769=) c.8316T>C (p.Asp2772=) c.2326T>C c.1980T>C (p.Asp660=) c.2416T>C c.8304T>C (p.Asp2768=) n.19T>C c.8313T>C (p.Asp2771=) c.8295T>C (p.Asp2765=) c.8223T>C (p.Asp2741=) n.10636T>C n.9625T>C | |
12 | g.49039281A>T | CA384742805 | KMT2D | n.6T>A c.8307T>A (p.Asp2769Glu) c.8316T>A (p.Asp2772Glu) c.2326T>A c.1980T>A (p.Asp660Glu) c.2416T>A c.8304T>A (p.Asp2768Glu) n.19T>A c.8313T>A (p.Asp2771Glu) c.8295T>A (p.Asp2765Glu) c.8223T>A (p.Asp2741Glu) n.10636T>A n.9625T>A | |
12 | g.49039282T>A | CA384742812 | KMT2D | n.5A>T c.8306A>T (p.Asp2769Val) c.8315A>T (p.Asp2772Val) c.2325A>T c.1979A>T (p.Asp660Val) c.2415A>T c.8303A>T (p.Asp2768Val) n.18A>T c.8312A>T (p.Asp2771Val) c.8294A>T (p.Asp2765Val) c.8222A>T (p.Asp2741Val) n.10635A>T n.9624A>T | |
12 | g.49039282T>C | CA384742810 | KMT2D | n.5A>G c.8306A>G (p.Asp2769Gly) c.8315A>G (p.Asp2772Gly) c.2325A>G c.1979A>G (p.Asp660Gly) c.2415A>G c.8303A>G (p.Asp2768Gly) n.18A>G c.8312A>G (p.Asp2771Gly) c.8294A>G (p.Asp2765Gly) c.8222A>G (p.Asp2741Gly) n.10635A>G n.9624A>G | |
12 | g.49039282T>G | CA384742809 | KMT2D | n.5A>C c.8306A>C (p.Asp2769Ala) c.8315A>C (p.Asp2772Ala) c.2325A>C c.1979A>C (p.Asp660Ala) c.2415A>C c.8303A>C (p.Asp2768Ala) n.18A>C c.8312A>C (p.Asp2771Ala) c.8294A>C (p.Asp2765Ala) c.8222A>C (p.Asp2741Ala) n.10635A>C n.9624A>C | |
12 | g.49039283C>A | CA384742816 | KMT2D | n.4G>T c.8305G>T (p.Asp2769Tyr) c.8314G>T (p.Asp2772Tyr) c.2324G>T c.1978G>T (p.Asp660Tyr) c.2414G>T c.8302G>T (p.Asp2768Tyr) n.17G>T c.8311G>T (p.Asp2771Tyr) c.8293G>T (p.Asp2765Tyr) c.8221G>T (p.Asp2741Tyr) n.10634G>T n.9623G>T | dbSNP |
12 | g.49039283C= | CA2034959149 | KMT2D | n.4G= c.8305G= (p.Asp2769=) c.8314G= (p.Asp2772=) c.2324G= c.1978G= (p.Asp660=) c.2414G= c.8302G= (p.Asp2768=) n.17G= c.8311G= (p.Asp2771=) c.8293G= (p.Asp2765=) c.8221G= (p.Asp2741=) n.10634G= n.9623G= | |
12 | g.49039283C>G | CA384742819 | KMT2D | n.4G>C c.8305G>C (p.Asp2769His) c.8314G>C (p.Asp2772His) c.2324G>C c.1978G>C (p.Asp660His) c.2414G>C c.8302G>C (p.Asp2768His) n.17G>C c.8311G>C (p.Asp2771His) c.8293G>C (p.Asp2765His) c.8221G>C (p.Asp2741His) n.10634G>C n.9623G>C | |
12 | g.49039283C>T | CA6546869 | KMT2D | n.4G>A c.8305G>A (p.Asp2769Asn) c.8314G>A (p.Asp2772Asn) c.2324G>A c.1978G>A (p.Asp660Asn) c.2414G>A c.8302G>A (p.Asp2768Asn) n.17G>A c.8311G>A (p.Asp2771Asn) c.8293G>A (p.Asp2765Asn) c.8221G>A (p.Asp2741Asn) n.10634G>A n.9623G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.49039284G>A | CA6546870 | KMT2D | n.3C>T c.8304C>T (p.Ser2768=) c.8313C>T (p.Ser2771=) c.2323C>T c.1977C>T (p.Ser659=) c.2413C>T c.8301C>T (p.Ser2767=) n.16C>T c.8310C>T (p.Ser2770=) c.8292C>T (p.Ser2764=) c.8220C>T (p.Ser2740=) n.10633C>T n.9622C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.49039284G>C | CA6546871 | KMT2D | n.3C>G c.8304C>G (p.Ser2768Arg) c.8313C>G (p.Ser2771Arg) c.2323C>G c.1977C>G (p.Ser659Arg) c.2413C>G c.8301C>G (p.Ser2767Arg) n.16C>G c.8310C>G (p.Ser2770Arg) c.8292C>G (p.Ser2764Arg) c.8220C>G (p.Ser2740Arg) n.10633C>G n.9622C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039284G= | CA2034959153 | KMT2D | n.3C= c.8304C= (p.Ser2768=) c.8313C= (p.Ser2771=) c.2323C= c.1977C= (p.Ser659=) c.2413C= c.8301C= (p.Ser2767=) n.16C= c.8310C= (p.Ser2770=) c.8292C= (p.Ser2764=) c.8220C= (p.Ser2740=) n.10633C= n.9622C= | |
12 | g.49039284G>T | CA6546872 | KMT2D | n.3C>A c.8304C>A (p.Ser2768Arg) c.8313C>A (p.Ser2771Arg) c.2323C>A c.1977C>A (p.Ser659Arg) c.2413C>A c.8301C>A (p.Ser2767Arg) n.16C>A c.8310C>A (p.Ser2770Arg) c.8292C>A (p.Ser2764Arg) c.8220C>A (p.Ser2740Arg) n.10633C>A n.9622C>A | dbSNP ExAC gnomAD v2 |
12 | g.49039285C>A | CA384742831 | KMT2D | n.2G>T c.8303G>T (p.Ser2768Ile) c.8312G>T (p.Ser2771Ile) c.2322G>T c.1976G>T (p.Ser659Ile) c.2412G>T c.8300G>T (p.Ser2767Ile) n.15G>T c.8309G>T (p.Ser2770Ile) c.8291G>T (p.Ser2764Ile) c.8219G>T (p.Ser2740Ile) n.10632G>T n.9621G>T | |
12 | g.49039285C>G | CA384742828 | KMT2D | n.2G>C c.8303G>C (p.Ser2768Thr) c.8312G>C (p.Ser2771Thr) c.2322G>C c.1976G>C (p.Ser659Thr) c.2412G>C c.8300G>C (p.Ser2767Thr) n.15G>C c.8309G>C (p.Ser2770Thr) c.8291G>C (p.Ser2764Thr) c.8219G>C (p.Ser2740Thr) n.10632G>C n.9621G>C | |
12 | g.49039285C>T | CA384742827 | KMT2D | n.2G>A c.8303G>A (p.Ser2768Asn) c.8312G>A (p.Ser2771Asn) c.2322G>A c.1976G>A (p.Ser659Asn) c.2412G>A c.8300G>A (p.Ser2767Asn) n.15G>A c.8309G>A (p.Ser2770Asn) c.8291G>A (p.Ser2764Asn) c.8219G>A (p.Ser2740Asn) n.10632G>A n.9621G>A | |
12 | g.49039286T>A | CA384742834 | KMT2D | n.1A>T c.8302A>T (p.Ser2768Cys) c.8311A>T (p.Ser2771Cys) c.2321A>T c.1975A>T (p.Ser659Cys) c.2411A>T c.8299A>T (p.Ser2767Cys) n.14A>T c.8308A>T (p.Ser2770Cys) c.8290A>T (p.Ser2764Cys) c.8218A>T (p.Ser2740Cys) n.10631A>T n.9620A>T | |
12 | g.49039286T>C | CA384742836 | KMT2D | n.1A>G c.8302A>G (p.Ser2768Gly) c.8311A>G (p.Ser2771Gly) c.2321A>G c.1975A>G (p.Ser659Gly) c.2411A>G c.8299A>G (p.Ser2767Gly) n.14A>G c.8308A>G (p.Ser2770Gly) c.8290A>G (p.Ser2764Gly) c.8218A>G (p.Ser2740Gly) n.10631A>G n.9620A>G | ClinVar |
12 | g.49039286T>G | CA384742839 | KMT2D | n.1A>C c.8302A>C (p.Ser2768Arg) c.8311A>C (p.Ser2771Arg) c.2321A>C c.1975A>C (p.Ser659Arg) c.2411A>C c.8299A>C (p.Ser2767Arg) n.14A>C c.8308A>C (p.Ser2770Arg) c.8290A>C (p.Ser2764Arg) c.8218A>C (p.Ser2740Arg) n.10631A>C n.9620A>C | |
12 | g.49039287A>C | CA479710618 | KMT2D | c.8301T>G (p.Pro2767=) c.8310T>G (p.Pro2770=) c.2320T>G c.1974T>G (p.Pro658=) c.2410T>G c.8298T>G (p.Pro2766=) n.13T>G c.8307T>G (p.Pro2769=) c.8289T>G (p.Pro2763=) c.8217T>G (p.Pro2739=) n.10630T>G n.9619T>G | |
12 | g.49039287A>G | CA479710619 | KMT2D | c.8301T>C (p.Pro2767=) c.8310T>C (p.Pro2770=) c.2320T>C c.1974T>C (p.Pro658=) c.2410T>C c.8298T>C (p.Pro2766=) n.13T>C c.8307T>C (p.Pro2769=) c.8289T>C (p.Pro2763=) c.8217T>C (p.Pro2739=) n.10630T>C n.9619T>C | |
12 | g.49039287A>T | CA479710620 | KMT2D | c.8301T>A (p.Pro2767=) c.8310T>A (p.Pro2770=) c.2320T>A c.1974T>A (p.Pro658=) c.2410T>A c.8298T>A (p.Pro2766=) n.13T>A c.8307T>A (p.Pro2769=) c.8289T>A (p.Pro2763=) c.8217T>A (p.Pro2739=) n.10630T>A n.9619T>A | |
12 | g.49039288G>A | CA384742842 | KMT2D | c.8300C>T (p.Pro2767Leu) c.8309C>T (p.Pro2770Leu) c.2319C>T c.1973C>T (p.Pro658Leu) c.2409C>T c.8297C>T (p.Pro2766Leu) n.12C>T c.8306C>T (p.Pro2769Leu) c.8288C>T (p.Pro2763Leu) c.8216C>T (p.Pro2739Leu) n.10629C>T n.9618C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039288G>C | CA384742843 | KMT2D | c.8300C>G (p.Pro2767Arg) c.8309C>G (p.Pro2770Arg) c.2319C>G c.1973C>G (p.Pro658Arg) c.2409C>G c.8297C>G (p.Pro2766Arg) n.12C>G c.8306C>G (p.Pro2769Arg) c.8288C>G (p.Pro2763Arg) c.8216C>G (p.Pro2739Arg) n.10629C>G n.9618C>G | |
12 | g.49039288G= | CA2034959159 | KMT2D | c.8300C= (p.Pro2767=) c.8309C= (p.Pro2770=) c.2319C= c.1973C= (p.Pro658=) c.2409C= c.8297C= (p.Pro2766=) n.12C= c.8306C= (p.Pro2769=) c.8288C= (p.Pro2763=) c.8216C= (p.Pro2739=) n.10629C= n.9618C= | |
12 | g.49039288G>T | CA384742845 | KMT2D | c.8300C>A (p.Pro2767His) c.8309C>A (p.Pro2770His) c.2319C>A c.1973C>A (p.Pro658His) c.2409C>A c.8297C>A (p.Pro2766His) n.12C>A c.8306C>A (p.Pro2769His) c.8288C>A (p.Pro2763His) c.8216C>A (p.Pro2739His) n.10629C>A n.9618C>A | |
12 | g.49039289G>A | CA384742846 | KMT2D | c.8299C>T (p.Pro2767Ser) c.8308C>T (p.Pro2770Ser) c.2318C>T c.1972C>T (p.Pro658Ser) c.2408C>T c.8296C>T (p.Pro2766Ser) n.11C>T c.8305C>T (p.Pro2769Ser) c.8287C>T (p.Pro2763Ser) c.8215C>T (p.Pro2739Ser) n.10628C>T n.9617C>T | |
12 | g.49039289G>C | CA384742850 | KMT2D | c.8299C>G (p.Pro2767Ala) c.8308C>G (p.Pro2770Ala) c.2318C>G c.1972C>G (p.Pro658Ala) c.2408C>G c.8296C>G (p.Pro2766Ala) n.11C>G c.8305C>G (p.Pro2769Ala) c.8287C>G (p.Pro2763Ala) c.8215C>G (p.Pro2739Ala) n.10628C>G n.9617C>G | gnomAD v4 |
12 | g.49039289G>T | CA384742848 | KMT2D | c.8299C>A (p.Pro2767Thr) c.8308C>A (p.Pro2770Thr) c.2318C>A c.1972C>A (p.Pro658Thr) c.2408C>A c.8296C>A (p.Pro2766Thr) n.11C>A c.8305C>A (p.Pro2769Thr) c.8287C>A (p.Pro2763Thr) c.8215C>A (p.Pro2739Thr) n.10628C>A n.9617C>A | |
12 | g.49039290G>A | CA479710624 | KMT2D | c.8298C>T (p.Phe2766=) c.8307C>T (p.Phe2769=) c.2317C>T c.1971C>T (p.Phe657=) c.2407C>T c.8295C>T (p.Phe2765=) n.10C>T c.8304C>T (p.Phe2768=) c.8286C>T (p.Phe2762=) c.8214C>T (p.Phe2738=) n.10627C>T n.9616C>T | gnomAD v4 |
12 | g.49039290G>C | CA384742857 | KMT2D | c.8298C>G (p.Phe2766Leu) c.8307C>G (p.Phe2769Leu) c.2317C>G c.1971C>G (p.Phe657Leu) c.2407C>G c.8295C>G (p.Phe2765Leu) n.10C>G c.8304C>G (p.Phe2768Leu) c.8286C>G (p.Phe2762Leu) c.8214C>G (p.Phe2738Leu) n.10627C>G n.9616C>G | |
12 | g.49039290G>T | CA384742858 | KMT2D | c.8298C>A (p.Phe2766Leu) c.8307C>A (p.Phe2769Leu) c.2317C>A c.1971C>A (p.Phe657Leu) c.2407C>A c.8295C>A (p.Phe2765Leu) n.10C>A c.8304C>A (p.Phe2768Leu) c.8286C>A (p.Phe2762Leu) c.8214C>A (p.Phe2738Leu) n.10627C>A n.9616C>A | |
12 | g.49039291A>C | CA384742860 | KMT2D | c.8297T>G (p.Phe2766Cys) c.8306T>G (p.Phe2769Cys) c.2316T>G c.1970T>G (p.Phe657Cys) c.2406T>G c.8294T>G (p.Phe2765Cys) n.9T>G c.8303T>G (p.Phe2768Cys) c.8285T>G (p.Phe2762Cys) c.8213T>G (p.Phe2738Cys) n.10626T>G n.9615T>G | |
12 | g.49039291A>G | CA384742864 | KMT2D | c.8297T>C (p.Phe2766Ser) c.8306T>C (p.Phe2769Ser) c.2316T>C c.1970T>C (p.Phe657Ser) c.2406T>C c.8294T>C (p.Phe2765Ser) n.9T>C c.8303T>C (p.Phe2768Ser) c.8285T>C (p.Phe2762Ser) c.8213T>C (p.Phe2738Ser) n.10626T>C n.9615T>C | |
12 | g.49039291A>T | CA384742866 | KMT2D | c.8297T>A (p.Phe2766Tyr) c.8306T>A (p.Phe2769Tyr) c.2316T>A c.1970T>A (p.Phe657Tyr) c.2406T>A c.8294T>A (p.Phe2765Tyr) n.9T>A c.8303T>A (p.Phe2768Tyr) c.8285T>A (p.Phe2762Tyr) c.8213T>A (p.Phe2738Tyr) n.10626T>A n.9615T>A | |
12 | g.49039292A>C | CA384742869 | KMT2D | c.8296T>G (p.Phe2766Val) c.8305T>G (p.Phe2769Val) c.2315T>G c.1969T>G (p.Phe657Val) c.2405T>G c.8293T>G (p.Phe2765Val) n.8T>G c.8302T>G (p.Phe2768Val) c.8284T>G (p.Phe2762Val) c.8212T>G (p.Phe2738Val) n.10625T>G n.9614T>G | |
12 | g.49039292A>G | CA384742871 | KMT2D | c.8296T>C (p.Phe2766Leu) c.8305T>C (p.Phe2769Leu) c.2315T>C c.1969T>C (p.Phe657Leu) c.2405T>C c.8293T>C (p.Phe2765Leu) n.8T>C c.8302T>C (p.Phe2768Leu) c.8284T>C (p.Phe2762Leu) c.8212T>C (p.Phe2738Leu) n.10625T>C n.9614T>C | |
12 | g.49039292A>T | CA384742874 | KMT2D | c.8296T>A (p.Phe2766Ile) c.8305T>A (p.Phe2769Ile) c.2315T>A c.1969T>A (p.Phe657Ile) c.2405T>A c.8293T>A (p.Phe2765Ile) n.8T>A c.8302T>A (p.Phe2768Ile) c.8284T>A (p.Phe2762Ile) c.8212T>A (p.Phe2738Ile) n.10625T>A n.9614T>A | |
12 | g.49039293G>A | CA479710625 | KMT2D | c.8295C>T (p.Ser2765=) c.8304C>T (p.Ser2768=) c.2314C>T c.1968C>T (p.Ser656=) c.2404C>T c.8292C>T (p.Ser2764=) n.7C>T c.8301C>T (p.Ser2767=) c.8283C>T (p.Ser2761=) c.8211C>T (p.Ser2737=) n.10624C>T n.9613C>T | |
12 | g.49039293G>C | CA479710626 | KMT2D | c.8295C>G (p.Ser2765=) c.8304C>G (p.Ser2768=) c.2314C>G c.1968C>G (p.Ser656=) c.2404C>G c.8292C>G (p.Ser2764=) n.7C>G c.8301C>G (p.Ser2767=) c.8283C>G (p.Ser2761=) c.8211C>G (p.Ser2737=) n.10624C>G n.9613C>G | |
12 | g.49039293G>T | CA479710627 | KMT2D | c.8295C>A (p.Ser2765=) c.8304C>A (p.Ser2768=) c.2314C>A c.1968C>A (p.Ser656=) c.2404C>A c.8292C>A (p.Ser2764=) n.7C>A c.8301C>A (p.Ser2767=) c.8283C>A (p.Ser2761=) c.8211C>A (p.Ser2737=) n.10624C>A n.9613C>A | |
12 | g.49039294G>A | CA384742877 | KMT2D | c.8294C>T (p.Ser2765Phe) c.8303C>T (p.Ser2768Phe) c.2313C>T c.1967C>T (p.Ser656Phe) c.2403C>T c.8291C>T (p.Ser2764Phe) n.6C>T c.8300C>T (p.Ser2767Phe) c.8282C>T (p.Ser2761Phe) c.8210C>T (p.Ser2737Phe) n.10623C>T n.9612C>T | |
12 | g.49039294G>C | CA384742879 | KMT2D | c.8294C>G (p.Ser2765Cys) c.8303C>G (p.Ser2768Cys) c.2313C>G c.1967C>G (p.Ser656Cys) c.2403C>G c.8291C>G (p.Ser2764Cys) n.6C>G c.8300C>G (p.Ser2767Cys) c.8282C>G (p.Ser2761Cys) c.8210C>G (p.Ser2737Cys) n.10623C>G n.9612C>G | |
12 | g.49039294G>T | CA384742881 | KMT2D | c.8294C>A (p.Ser2765Tyr) c.8303C>A (p.Ser2768Tyr) c.2313C>A c.1967C>A (p.Ser656Tyr) c.2403C>A c.8291C>A (p.Ser2764Tyr) n.6C>A c.8300C>A (p.Ser2767Tyr) c.8282C>A (p.Ser2761Tyr) c.8210C>A (p.Ser2737Tyr) n.10623C>A n.9612C>A | gnomAD v4 |
12 | g.49039295A>C | CA384742884 | KMT2D | c.8293T>G (p.Ser2765Ala) c.8302T>G (p.Ser2768Ala) c.2312T>G c.1966T>G (p.Ser656Ala) c.2402T>G c.8290T>G (p.Ser2764Ala) n.5T>G c.8299T>G (p.Ser2767Ala) c.8281T>G (p.Ser2761Ala) c.8209T>G (p.Ser2737Ala) n.10622T>G n.9611T>G | dbSNP |
12 | g.49039295A>G | CA384742887 | KMT2D | c.8293T>C (p.Ser2765Pro) c.8302T>C (p.Ser2768Pro) c.2312T>C c.1966T>C (p.Ser656Pro) c.2402T>C c.8290T>C (p.Ser2764Pro) n.5T>C c.8299T>C (p.Ser2767Pro) c.8281T>C (p.Ser2761Pro) c.8209T>C (p.Ser2737Pro) n.10622T>C n.9611T>C | dbSNP |
12 | g.49039295A>T | CA384742886 | KMT2D | c.8293T>A (p.Ser2765Thr) c.8302T>A (p.Ser2768Thr) c.2312T>A c.1966T>A (p.Ser656Thr) c.2402T>A c.8290T>A (p.Ser2764Thr) n.5T>A c.8299T>A (p.Ser2767Thr) c.8281T>A (p.Ser2761Thr) c.8209T>A (p.Ser2737Thr) n.10622T>A n.9611T>A | |
12 | g.49039296C>A | CA479710630 | KMT2D | c.8292G>T (p.Gly2764=) c.8301G>T (p.Gly2767=) c.2311G>T c.1965G>T (p.Gly655=) c.2401G>T c.8289G>T (p.Gly2763=) n.4G>T c.8298G>T (p.Gly2766=) c.8280G>T (p.Gly2760=) c.8208G>T (p.Gly2736=) n.10621G>T n.9610G>T | |
12 | g.49039296C= | CA2034959162 | KMT2D | c.8292G= (p.Gly2764=) c.8301G= (p.Gly2767=) c.2311G= c.1965G= (p.Gly655=) c.2401G= c.8289G= (p.Gly2763=) n.4G= c.8298G= (p.Gly2766=) c.8280G= (p.Gly2760=) c.8208G= (p.Gly2736=) n.10621G= n.9610G= | |
12 | g.49039296C>G | CA479710632 | KMT2D | c.8292G>C (p.Gly2764=) c.8301G>C (p.Gly2767=) c.2311G>C c.1965G>C (p.Gly655=) c.2401G>C c.8289G>C (p.Gly2763=) n.4G>C c.8298G>C (p.Gly2766=) c.8280G>C (p.Gly2760=) c.8208G>C (p.Gly2736=) n.10621G>C n.9610G>C | |
12 | g.49039296C>T | CA479710631 | KMT2D | c.8292G>A (p.Gly2764=) c.8301G>A (p.Gly2767=) c.2311G>A c.1965G>A (p.Gly655=) c.2401G>A c.8289G>A (p.Gly2763=) n.4G>A c.8298G>A (p.Gly2766=) c.8280G>A (p.Gly2760=) c.8208G>A (p.Gly2736=) n.10621G>A n.9610G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039298del | CA2695216408 | KMT2D | c.8292del (p.Ser2765ProfsTer22) c.8301del (p.Ser2768ProfsTer22) c.2311del c.1965del (p.Ser656ProfsTer22) c.2401del c.8289del (p.Ser2764ProfsTer22) n.4del c.8298del (p.Ser2767ProfsTer22) c.8280del (p.Ser2761ProfsTer22) c.8208del (p.Ser2737ProfsTer22) n.10621del n.9610del | |
12 | g.49039297C>A | CA236646140 | KMT2D | c.8291G>T (p.Gly2764Val) c.8300G>T (p.Gly2767Val) c.2310G>T c.1964G>T (p.Gly655Val) c.2400G>T c.8288G>T (p.Gly2763Val) n.3G>T c.8297G>T (p.Gly2766Val) c.8279G>T (p.Gly2760Val) c.8207G>T (p.Gly2736Val) n.10620G>T n.9609G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039297C= | CA2034959166 | KMT2D | c.8291G= (p.Gly2764=) c.8300G= (p.Gly2767=) c.2310G= c.1964G= (p.Gly655=) c.2400G= c.8288G= (p.Gly2763=) n.3G= c.8297G= (p.Gly2766=) c.8279G= (p.Gly2760=) c.8207G= (p.Gly2736=) n.10620G= n.9609G= | |
12 | g.49039297C>G | CA384742892 | KMT2D | c.8291G>C (p.Gly2764Ala) c.8300G>C (p.Gly2767Ala) c.2310G>C c.1964G>C (p.Gly655Ala) c.2400G>C c.8288G>C (p.Gly2763Ala) n.3G>C c.8297G>C (p.Gly2766Ala) c.8279G>C (p.Gly2760Ala) c.8207G>C (p.Gly2736Ala) n.10620G>C n.9609G>C | gnomAD v4 |
12 | g.49039297C>T | CA384742894 | KMT2D | c.8291G>A (p.Gly2764Glu) c.8300G>A (p.Gly2767Glu) c.2310G>A c.1964G>A (p.Gly655Glu) c.2400G>A c.8288G>A (p.Gly2763Glu) n.3G>A c.8297G>A (p.Gly2766Glu) c.8279G>A (p.Gly2760Glu) c.8207G>A (p.Gly2736Glu) n.10620G>A n.9609G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039298C>A | CA384742900 | KMT2D | c.8290G>T (p.Gly2764Trp) c.8299G>T (p.Gly2767Trp) c.2309G>T c.1963G>T (p.Gly655Trp) c.2399G>T c.8287G>T (p.Gly2763Trp) n.2G>T c.8296G>T (p.Gly2766Trp) c.8278G>T (p.Gly2760Trp) c.8206G>T (p.Gly2736Trp) n.10619G>T n.9608G>T | |
12 | g.49039298C= | CA2034959170 | KMT2D | c.8290G= (p.Gly2764=) c.8299G= (p.Gly2767=) c.2309G= c.1963G= (p.Gly655=) c.2399G= c.8287G= (p.Gly2763=) n.2G= c.8296G= (p.Gly2766=) c.8278G= (p.Gly2760=) c.8206G= (p.Gly2736=) n.10619G= n.9608G= | |
12 | g.49039298C>G | CA236646149 | KMT2D | c.8290G>C (p.Gly2764Arg) c.8299G>C (p.Gly2767Arg) c.2309G>C c.1963G>C (p.Gly655Arg) c.2399G>C c.8287G>C (p.Gly2763Arg) n.2G>C c.8296G>C (p.Gly2766Arg) c.8278G>C (p.Gly2760Arg) c.8206G>C (p.Gly2736Arg) n.10619G>C n.9608G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039298C>T | CA384742902 | KMT2D | c.8290G>A (p.Gly2764Arg) c.8299G>A (p.Gly2767Arg) c.2309G>A c.1963G>A (p.Gly655Arg) c.2399G>A c.8287G>A (p.Gly2763Arg) n.2G>A c.8296G>A (p.Gly2766Arg) c.8278G>A (p.Gly2760Arg) c.8206G>A (p.Gly2736Arg) n.10619G>A n.9608G>A | |
12 | g.49039299T>A | CA479710635 | KMT2D | c.8289A>T (p.Pro2763=) c.8298A>T (p.Pro2766=) c.2308A>T c.1962A>T (p.Pro654=) c.2398A>T c.8286A>T (p.Pro2762=) n.1A>T c.8295A>T (p.Pro2765=) c.8277A>T (p.Pro2759=) c.8205A>T (p.Pro2735=) n.10618A>T n.9607A>T | dbSNP |
12 | g.49039299T>C | CA479710636 | KMT2D | c.8289A>G (p.Pro2763=) c.8298A>G (p.Pro2766=) c.2308A>G c.1962A>G (p.Pro654=) c.2398A>G c.8286A>G (p.Pro2762=) n.1A>G c.8295A>G (p.Pro2765=) c.8277A>G (p.Pro2759=) c.8205A>G (p.Pro2735=) n.10618A>G n.9607A>G | |
12 | g.49039299T>G | CA479710637 | KMT2D | c.8289A>C (p.Pro2763=) c.8298A>C (p.Pro2766=) c.2308A>C c.1962A>C (p.Pro654=) c.2398A>C c.8286A>C (p.Pro2762=) n.1A>C c.8295A>C (p.Pro2765=) c.8277A>C (p.Pro2759=) c.8205A>C (p.Pro2735=) n.10618A>C n.9607A>C | |
12 | g.49039300G>A | CA222116 | KMT2D | c.8288C>T (p.Pro2763Leu) c.8297C>T (p.Pro2766Leu) c.2307C>T c.1961C>T (p.Pro654Leu) c.2397C>T c.8285C>T (p.Pro2762Leu) c.8294C>T (p.Pro2765Leu) c.8276C>T (p.Pro2759Leu) c.8204C>T (p.Pro2735Leu) n.10617C>T n.9606C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039300G>C | CA384742908 | KMT2D | c.8288C>G (p.Pro2763Arg) c.8297C>G (p.Pro2766Arg) c.2307C>G c.1961C>G (p.Pro654Arg) c.2397C>G c.8285C>G (p.Pro2762Arg) c.8294C>G (p.Pro2765Arg) c.8276C>G (p.Pro2759Arg) c.8204C>G (p.Pro2735Arg) n.10617C>G n.9606C>G | |
12 | g.49039300G= | CA2034959174 | KMT2D | c.8288C= (p.Pro2763=) c.8297C= (p.Pro2766=) c.2307C= c.1961C= (p.Pro654=) c.2397C= c.8285C= (p.Pro2762=) c.8294C= (p.Pro2765=) c.8276C= (p.Pro2759=) c.8204C= (p.Pro2735=) n.10617C= n.9606C= | |
12 | g.49039300G>T | CA384742911 | KMT2D | c.8288C>A (p.Pro2763Gln) c.8297C>A (p.Pro2766Gln) c.2307C>A c.1961C>A (p.Pro654Gln) c.2397C>A c.8285C>A (p.Pro2762Gln) c.8294C>A (p.Pro2765Gln) c.8276C>A (p.Pro2759Gln) c.8204C>A (p.Pro2735Gln) n.10617C>A n.9606C>A | |
12 | g.49039301G>A | CA384742913 | KMT2D | c.8287C>T (p.Pro2763Ser) c.8296C>T (p.Pro2766Ser) c.2306C>T c.1960C>T (p.Pro654Ser) c.2396C>T c.8284C>T (p.Pro2762Ser) c.8293C>T (p.Pro2765Ser) c.8275C>T (p.Pro2759Ser) c.8203C>T (p.Pro2735Ser) n.10616C>T n.9605C>T | dbSNP |
12 | g.49039301G>C | CA384742916 | KMT2D | c.8287C>G (p.Pro2763Ala) c.8296C>G (p.Pro2766Ala) c.2306C>G c.1960C>G (p.Pro654Ala) c.2396C>G c.8284C>G (p.Pro2762Ala) c.8293C>G (p.Pro2765Ala) c.8275C>G (p.Pro2759Ala) c.8203C>G (p.Pro2735Ala) n.10616C>G n.9605C>G | ClinVar dbSNP gnomAD v2 |
12 | g.49039301G= | CA2034959178 | KMT2D | c.8287C= (p.Pro2763=) c.8296C= (p.Pro2766=) c.2306C= c.1960C= (p.Pro654=) c.2396C= c.8284C= (p.Pro2762=) c.8293C= (p.Pro2765=) c.8275C= (p.Pro2759=) c.8203C= (p.Pro2735=) n.10616C= n.9605C= | |
12 | g.49039301G>T | CA384742917 | KMT2D | c.8287C>A (p.Pro2763Thr) c.8296C>A (p.Pro2766Thr) c.2306C>A c.1960C>A (p.Pro654Thr) c.2396C>A c.8284C>A (p.Pro2762Thr) c.8293C>A (p.Pro2765Thr) c.8275C>A (p.Pro2759Thr) c.8203C>A (p.Pro2735Thr) n.10616C>A n.9605C>A | ClinVar dbSNP |
12 | g.49039302C>A | CA479710638 | KMT2D | c.8286G>T (p.Gly2762=) c.8295G>T (p.Gly2765=) c.2305G>T c.1959G>T (p.Gly653=) c.2395G>T c.8283G>T (p.Gly2761=) c.8292G>T (p.Gly2764=) c.8274G>T (p.Gly2758=) c.8202G>T (p.Gly2734=) n.10615G>T n.9604G>T | dbSNP |
12 | g.49039302C= | CA2034959182 | KMT2D | c.8286G= (p.Gly2762=) c.8295G= (p.Gly2765=) c.2305G= c.1959G= (p.Gly653=) c.2395G= c.8283G= (p.Gly2761=) c.8292G= (p.Gly2764=) c.8274G= (p.Gly2758=) c.8202G= (p.Gly2734=) n.10615G= n.9604G= | |
12 | g.49039302C>G | CA479710639 | KMT2D | c.8286G>C (p.Gly2762=) c.8295G>C (p.Gly2765=) c.2305G>C c.1959G>C (p.Gly653=) c.2395G>C c.8283G>C (p.Gly2761=) c.8292G>C (p.Gly2764=) c.8274G>C (p.Gly2758=) c.8202G>C (p.Gly2734=) n.10615G>C n.9604G>C | |
12 | g.49039302C>T | CA479710640 | KMT2D | c.8286G>A (p.Gly2762=) c.8295G>A (p.Gly2765=) c.2305G>A c.1959G>A (p.Gly653=) c.2395G>A c.8283G>A (p.Gly2761=) c.8292G>A (p.Gly2764=) c.8274G>A (p.Gly2758=) c.8202G>A (p.Gly2734=) n.10615G>A n.9604G>A | |
12 | g.49039305del | CA645579662 | KMT2D | c.8286del (p.Pro2763GlnfsTer24) c.8295del (p.Pro2766GlnfsTer24) c.2305del c.1959del (p.Pro654GlnfsTer24) c.2395del c.8283del (p.Pro2762GlnfsTer24) c.8292del (p.Pro2765GlnfsTer24) c.8274del (p.Pro2759GlnfsTer24) c.8202del (p.Pro2735GlnfsTer24) n.10615del n.9604del | dbSNP COSMIC COSMIC |
12 | g.49039303C>A | CA384742920 | KMT2D | c.8285G>T (p.Gly2762Val) c.8294G>T (p.Gly2765Val) c.2304G>T c.1958G>T (p.Gly653Val) c.2394G>T c.8282G>T (p.Gly2761Val) c.8291G>T (p.Gly2764Val) c.8273G>T (p.Gly2758Val) c.8201G>T (p.Gly2734Val) n.10614G>T n.9603G>T | |
12 | g.49039303C>G | CA384742918 | KMT2D | c.8285G>C (p.Gly2762Ala) c.8294G>C (p.Gly2765Ala) c.2304G>C c.1958G>C (p.Gly653Ala) c.2394G>C c.8282G>C (p.Gly2761Ala) c.8291G>C (p.Gly2764Ala) c.8273G>C (p.Gly2758Ala) c.8201G>C (p.Gly2734Ala) n.10614G>C n.9603G>C | |
12 | g.49039303C>T | CA384742919 | KMT2D | c.8285G>A (p.Gly2762Glu) c.8294G>A (p.Gly2765Glu) c.2304G>A c.1958G>A (p.Gly653Glu) c.2394G>A c.8282G>A (p.Gly2761Glu) c.8291G>A (p.Gly2764Glu) c.8273G>A (p.Gly2758Glu) c.8201G>A (p.Gly2734Glu) n.10614G>A n.9603G>A | |
12 | g.49039304C>A | CA384742921 | KMT2D | c.8284G>T (p.Gly2762Trp) c.8293G>T (p.Gly2765Trp) c.2303G>T c.1957G>T (p.Gly653Trp) c.2393G>T c.8281G>T (p.Gly2761Trp) c.8290G>T (p.Gly2764Trp) c.8272G>T (p.Gly2758Trp) c.8200G>T (p.Gly2734Trp) n.10613G>T n.9602G>T | |
12 | g.49039304C>G | CA384742922 | KMT2D | c.8284G>C (p.Gly2762Arg) c.8293G>C (p.Gly2765Arg) c.2303G>C c.1957G>C (p.Gly653Arg) c.2393G>C c.8281G>C (p.Gly2761Arg) c.8290G>C (p.Gly2764Arg) c.8272G>C (p.Gly2758Arg) c.8200G>C (p.Gly2734Arg) n.10613G>C n.9602G>C | |
12 | g.49039304C>T | CA384742923 | KMT2D | c.8284G>A (p.Gly2762Arg) c.8293G>A (p.Gly2765Arg) c.2303G>A c.1957G>A (p.Gly653Arg) c.2393G>A c.8281G>A (p.Gly2761Arg) c.8290G>A (p.Gly2764Arg) c.8272G>A (p.Gly2758Arg) c.8200G>A (p.Gly2734Arg) n.10613G>A n.9602G>A | dbSNP gnomAD v4 |
12 | g.49039305C>A | CA479710645 | KMT2D | c.8283G>T (p.Leu2761=) c.8292G>T (p.Leu2764=) c.2302G>T c.1956G>T (p.Leu652=) c.2392G>T c.8280G>T (p.Leu2760=) c.8289G>T (p.Leu2763=) c.8271G>T (p.Leu2757=) c.8199G>T (p.Leu2733=) n.10612G>T n.9601G>T | |
12 | g.49039305C>G | CA479710646 | KMT2D | c.8283G>C (p.Leu2761=) c.8292G>C (p.Leu2764=) c.2302G>C c.1956G>C (p.Leu652=) c.2392G>C c.8280G>C (p.Leu2760=) c.8289G>C (p.Leu2763=) c.8271G>C (p.Leu2757=) c.8199G>C (p.Leu2733=) n.10612G>C n.9601G>C | |
12 | g.49039305C>T | CA479710647 | KMT2D | c.8283G>A (p.Leu2761=) c.8292G>A (p.Leu2764=) c.2302G>A c.1956G>A (p.Leu652=) c.2392G>A c.8280G>A (p.Leu2760=) c.8289G>A (p.Leu2763=) c.8271G>A (p.Leu2757=) c.8199G>A (p.Leu2733=) n.10612G>A n.9601G>A | |
12 | g.49039306A>C | CA384742925 | KMT2D | c.8282T>G (p.Leu2761Arg) c.8291T>G (p.Leu2764Arg) c.2301T>G c.1955T>G (p.Leu652Arg) c.2391T>G c.8279T>G (p.Leu2760Arg) c.8288T>G (p.Leu2763Arg) c.8270T>G (p.Leu2757Arg) c.8198T>G (p.Leu2733Arg) n.10611T>G n.9600T>G | |
12 | g.49039306A>G | CA384742926 | KMT2D | c.8282T>C (p.Leu2761Pro) c.8291T>C (p.Leu2764Pro) c.2301T>C c.1955T>C (p.Leu652Pro) c.2391T>C c.8279T>C (p.Leu2760Pro) c.8288T>C (p.Leu2763Pro) c.8270T>C (p.Leu2757Pro) c.8198T>C (p.Leu2733Pro) n.10611T>C n.9600T>C | gnomAD v4 |
12 | g.49039306A>T | CA384742927 | KMT2D | c.8282T>A (p.Leu2761Gln) c.8291T>A (p.Leu2764Gln) c.2301T>A c.1955T>A (p.Leu652Gln) c.2391T>A c.8279T>A (p.Leu2760Gln) c.8288T>A (p.Leu2763Gln) c.8270T>A (p.Leu2757Gln) c.8198T>A (p.Leu2733Gln) n.10611T>A n.9600T>A | |
12 | g.49039307G>A | CA479710649 | KMT2D | c.8281C>T (p.Leu2761=) c.8290C>T (p.Leu2764=) c.2300C>T c.1954C>T (p.Leu652=) c.2390C>T c.8278C>T (p.Leu2760=) c.8287C>T (p.Leu2763=) c.8269C>T (p.Leu2757=) c.8197C>T (p.Leu2733=) n.10610C>T n.9599C>T | gnomAD v4 COSMIC COSMIC |
12 | g.49039307G>C | CA384742929 | KMT2D | c.8281C>G (p.Leu2761Val) c.8290C>G (p.Leu2764Val) c.2300C>G c.1954C>G (p.Leu652Val) c.2390C>G c.8278C>G (p.Leu2760Val) c.8287C>G (p.Leu2763Val) c.8269C>G (p.Leu2757Val) c.8197C>G (p.Leu2733Val) n.10610C>G n.9599C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039307G= | CA2034959185 | KMT2D | c.8281C= (p.Leu2761=) c.8290C= (p.Leu2764=) c.2300C= c.1954C= (p.Leu652=) c.2390C= c.8278C= (p.Leu2760=) c.8287C= (p.Leu2763=) c.8269C= (p.Leu2757=) c.8197C= (p.Leu2733=) n.10610C= n.9599C= | |
12 | g.49039307G>T | CA384742931 | KMT2D | c.8281C>A (p.Leu2761Met) c.8290C>A (p.Leu2764Met) c.2300C>A c.1954C>A (p.Leu652Met) c.2390C>A c.8278C>A (p.Leu2760Met) c.8287C>A (p.Leu2763Met) c.8269C>A (p.Leu2757Met) c.8197C>A (p.Leu2733Met) n.10610C>A n.9599C>A | |
12 | g.49039307_49039308insA | CA645579663 | KMT2D | c.8280_8281insT (p.Leu2761SerfsTer8) c.8289_8290insT (p.Leu2764SerfsTer8) c.2299_2300insT c.1953_1954insT (p.Leu652SerfsTer8) c.2389_2390insT c.8277_8278insT (p.Leu2760SerfsTer8) c.8286_8287insT (p.Leu2763SerfsTer8) c.8268_8269insT (p.Leu2757SerfsTer8) c.8196_8197insT (p.Leu2733SerfsTer8) n.10609_10610insT n.9598_9599insT | COSMIC COSMIC |
12 | g.49039308G>A | CA479710654 | KMT2D | c.8280C>T (p.Ile2760=) c.8289C>T (p.Ile2763=) c.2299C>T c.1953C>T (p.Ile651=) c.2389C>T c.8277C>T (p.Ile2759=) c.8286C>T (p.Ile2762=) c.8268C>T (p.Ile2756=) c.8196C>T (p.Ile2732=) n.10609C>T n.9598C>T | |
12 | g.49039308G>C | CA384742935 | KMT2D | c.8280C>G (p.Ile2760Met) c.8289C>G (p.Ile2763Met) c.2299C>G c.1953C>G (p.Ile651Met) c.2389C>G c.8277C>G (p.Ile2759Met) c.8286C>G (p.Ile2762Met) c.8268C>G (p.Ile2756Met) c.8196C>G (p.Ile2732Met) n.10609C>G n.9598C>G | |
12 | g.49039308G>T | CA479710655 | KMT2D | c.8280C>A (p.Ile2760=) c.8289C>A (p.Ile2763=) c.2299C>A c.1953C>A (p.Ile651=) c.2389C>A c.8277C>A (p.Ile2759=) c.8286C>A (p.Ile2762=) c.8268C>A (p.Ile2756=) c.8196C>A (p.Ile2732=) n.10609C>A n.9598C>A | |
12 | g.49039309A>C | CA384742939 | KMT2D | c.8279T>G (p.Ile2760Ser) c.8288T>G (p.Ile2763Ser) c.2298T>G c.1952T>G (p.Ile651Ser) c.2388T>G c.8276T>G (p.Ile2759Ser) c.8285T>G (p.Ile2762Ser) c.8267T>G (p.Ile2756Ser) c.8195T>G (p.Ile2732Ser) n.10608T>G n.9597T>G | |
12 | g.49039309A>G | CA384742941 | KMT2D | c.8279T>C (p.Ile2760Thr) c.8288T>C (p.Ile2763Thr) c.2298T>C c.1952T>C (p.Ile651Thr) c.2388T>C c.8276T>C (p.Ile2759Thr) c.8285T>C (p.Ile2762Thr) c.8267T>C (p.Ile2756Thr) c.8195T>C (p.Ile2732Thr) n.10608T>C n.9597T>C | |
12 | g.49039309A>T | CA384742944 | KMT2D | c.8279T>A (p.Ile2760Asn) c.8288T>A (p.Ile2763Asn) c.2298T>A c.1952T>A (p.Ile651Asn) c.2388T>A c.8276T>A (p.Ile2759Asn) c.8285T>A (p.Ile2762Asn) c.8267T>A (p.Ile2756Asn) c.8195T>A (p.Ile2732Asn) n.10608T>A n.9597T>A | gnomAD v4 |
12 | g.49039310T>A | CA384742951 | KMT2D | c.8278A>T (p.Ile2760Phe) c.8287A>T (p.Ile2763Phe) c.2297A>T c.1951A>T (p.Ile651Phe) c.2387A>T c.8275A>T (p.Ile2759Phe) c.8284A>T (p.Ile2762Phe) c.8266A>T (p.Ile2756Phe) c.8194A>T (p.Ile2732Phe) n.10607A>T n.9596A>T | |
12 | g.49039310T>C | CA384742953 | KMT2D | c.8278A>G (p.Ile2760Val) c.8287A>G (p.Ile2763Val) c.2297A>G c.1951A>G (p.Ile651Val) c.2387A>G c.8275A>G (p.Ile2759Val) c.8284A>G (p.Ile2762Val) c.8266A>G (p.Ile2756Val) c.8194A>G (p.Ile2732Val) n.10607A>G n.9596A>G | gnomAD v4 |
12 | g.49039310T>G | CA384742949 | KMT2D | c.8278A>C (p.Ile2760Leu) c.8287A>C (p.Ile2763Leu) c.2297A>C c.1951A>C (p.Ile651Leu) c.2387A>C c.8275A>C (p.Ile2759Leu) c.8284A>C (p.Ile2762Leu) c.8266A>C (p.Ile2756Leu) c.8194A>C (p.Ile2732Leu) n.10607A>C n.9596A>C | |
12 | g.49039311G>A | CA479710657 | KMT2D | c.8277C>T (p.Pro2759=) c.8286C>T (p.Pro2762=) c.2296C>T c.1950C>T (p.Pro650=) c.2386C>T c.8274C>T (p.Pro2758=) c.8283C>T (p.Pro2761=) c.8265C>T (p.Pro2755=) c.8193C>T (p.Pro2731=) n.10606C>T n.9595C>T | gnomAD v4 |
12 | g.49039311G>C | CA479710659 | KMT2D | c.8277C>G (p.Pro2759=) c.8286C>G (p.Pro2762=) c.2296C>G c.1950C>G (p.Pro650=) c.2386C>G c.8274C>G (p.Pro2758=) c.8283C>G (p.Pro2761=) c.8265C>G (p.Pro2755=) c.8193C>G (p.Pro2731=) n.10606C>G n.9595C>G | |
12 | g.49039311G>T | CA479710660 | KMT2D | c.8277C>A (p.Pro2759=) c.8286C>A (p.Pro2762=) c.2296C>A c.1950C>A (p.Pro650=) c.2386C>A c.8274C>A (p.Pro2758=) c.8283C>A (p.Pro2761=) c.8265C>A (p.Pro2755=) c.8193C>A (p.Pro2731=) n.10606C>A n.9595C>A | |
12 | g.49039312G>A | CA384742961 | KMT2D | c.8276C>T (p.Pro2759Leu) c.8285C>T (p.Pro2762Leu) c.2295C>T c.1949C>T (p.Pro650Leu) c.2385C>T c.8273C>T (p.Pro2758Leu) c.8282C>T (p.Pro2761Leu) c.8264C>T (p.Pro2755Leu) c.8192C>T (p.Pro2731Leu) n.10605C>T n.9594C>T | gnomAD v4 |
12 | g.49039312G>C | CA384742957 | KMT2D | c.8276C>G (p.Pro2759Arg) c.8285C>G (p.Pro2762Arg) c.2295C>G c.1949C>G (p.Pro650Arg) c.2385C>G c.8273C>G (p.Pro2758Arg) c.8282C>G (p.Pro2761Arg) c.8264C>G (p.Pro2755Arg) c.8192C>G (p.Pro2731Arg) n.10605C>G n.9594C>G | |
12 | g.49039312G>T | CA384742959 | KMT2D | c.8276C>A (p.Pro2759His) c.8285C>A (p.Pro2762His) c.2295C>A c.1949C>A (p.Pro650His) c.2385C>A c.8273C>A (p.Pro2758His) c.8282C>A (p.Pro2761His) c.8264C>A (p.Pro2755His) c.8192C>A (p.Pro2731His) n.10605C>A n.9594C>A | |
12 | g.49039313G>A | CA384742964 | KMT2D | c.8275C>T (p.Pro2759Ser) c.8284C>T (p.Pro2762Ser) c.2294C>T c.1948C>T (p.Pro650Ser) c.2384C>T c.8272C>T (p.Pro2758Ser) c.8281C>T (p.Pro2761Ser) c.8263C>T (p.Pro2755Ser) c.8191C>T (p.Pro2731Ser) n.10604C>T n.9593C>T | gnomAD v4 |
12 | g.49039313G>C | CA384742965 | KMT2D | c.8275C>G (p.Pro2759Ala) c.8284C>G (p.Pro2762Ala) c.2294C>G c.1948C>G (p.Pro650Ala) c.2384C>G c.8272C>G (p.Pro2758Ala) c.8281C>G (p.Pro2761Ala) c.8263C>G (p.Pro2755Ala) c.8191C>G (p.Pro2731Ala) n.10604C>G n.9593C>G | |
12 | g.49039313G>T | CA384742967 | KMT2D | c.8275C>A (p.Pro2759Thr) c.8284C>A (p.Pro2762Thr) c.2294C>A c.1948C>A (p.Pro650Thr) c.2384C>A c.8272C>A (p.Pro2758Thr) c.8281C>A (p.Pro2761Thr) c.8263C>A (p.Pro2755Thr) c.8191C>A (p.Pro2731Thr) n.10604C>A n.9593C>A | |
12 | g.49039314G>A | CA479710663 | KMT2D | c.8274C>T (p.Gly2758=) c.8283C>T (p.Gly2761=) c.2293C>T c.1947C>T (p.Gly649=) c.2383C>T c.8271C>T (p.Gly2757=) c.8280C>T (p.Gly2760=) c.8262C>T (p.Gly2754=) c.8190C>T (p.Gly2730=) n.10603C>T n.9592C>T | dbSNP |
12 | g.49039314G>C | CA479710664 | KMT2D | c.8274C>G (p.Gly2758=) c.8283C>G (p.Gly2761=) c.2293C>G c.1947C>G (p.Gly649=) c.2383C>G c.8271C>G (p.Gly2757=) c.8280C>G (p.Gly2760=) c.8262C>G (p.Gly2754=) c.8190C>G (p.Gly2730=) n.10603C>G n.9592C>G | |
12 | g.49039314G>T | CA479710665 | KMT2D | c.8274C>A (p.Gly2758=) c.8283C>A (p.Gly2761=) c.2293C>A c.1947C>A (p.Gly649=) c.2383C>A c.8271C>A (p.Gly2757=) c.8280C>A (p.Gly2760=) c.8262C>A (p.Gly2754=) c.8190C>A (p.Gly2730=) n.10603C>A n.9592C>A | |
12 | g.49039315C>A | CA384742976 | KMT2D | c.8273G>T (p.Gly2758Val) c.8282G>T (p.Gly2761Val) c.2292G>T c.1946G>T (p.Gly649Val) c.2382G>T c.8270G>T (p.Gly2757Val) c.8279G>T (p.Gly2760Val) c.8261G>T (p.Gly2754Val) c.8189G>T (p.Gly2730Val) n.10602G>T n.9591G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039315C= | CA2034959188 | KMT2D | c.8273G= (p.Gly2758=) c.8282G= (p.Gly2761=) c.2292G= c.1946G= (p.Gly649=) c.2382G= c.8270G= (p.Gly2757=) c.8279G= (p.Gly2760=) c.8261G= (p.Gly2754=) c.8189G= (p.Gly2730=) n.10602G= n.9591G= | |
12 | g.49039315C>G | CA384742972 | KMT2D | c.8273G>C (p.Gly2758Ala) c.8282G>C (p.Gly2761Ala) c.2292G>C c.1946G>C (p.Gly649Ala) c.2382G>C c.8270G>C (p.Gly2757Ala) c.8279G>C (p.Gly2760Ala) c.8261G>C (p.Gly2754Ala) c.8189G>C (p.Gly2730Ala) n.10602G>C n.9591G>C | |
12 | g.49039315C>T | CA384742970 | KMT2D | c.8273G>A (p.Gly2758Asp) c.8282G>A (p.Gly2761Asp) c.2292G>A c.1946G>A (p.Gly649Asp) c.2382G>A c.8270G>A (p.Gly2757Asp) c.8279G>A (p.Gly2760Asp) c.8261G>A (p.Gly2754Asp) c.8189G>A (p.Gly2730Asp) n.10602G>A n.9591G>A | |
12 | g.49039316del | CA2695216409 | KMT2D | c.8273del (p.Gly2758AlafsTer29) c.8282del (p.Gly2761AlafsTer29) c.2292del c.1946del (p.Gly649AlafsTer29) c.2382del c.8270del (p.Gly2757AlafsTer29) c.8279del (p.Gly2760AlafsTer29) c.8261del (p.Gly2754AlafsTer29) c.8189del (p.Gly2730AlafsTer29) n.10602del n.9591del | |
12 | g.49039316C>A | CA384742978 | KMT2D | c.8272G>T (p.Gly2758Cys) c.8281G>T (p.Gly2761Cys) c.2291G>T c.1945G>T (p.Gly649Cys) c.2381G>T c.8269G>T (p.Gly2757Cys) c.8278G>T (p.Gly2760Cys) c.8260G>T (p.Gly2754Cys) c.8188G>T (p.Gly2730Cys) n.10601G>T n.9590G>T | dbSNP |
12 | g.49039316C= | CA2034959191 | KMT2D | c.8272G= (p.Gly2758=) c.8281G= (p.Gly2761=) c.2291G= c.1945G= (p.Gly649=) c.2381G= c.8269G= (p.Gly2757=) c.8278G= (p.Gly2760=) c.8260G= (p.Gly2754=) c.8188G= (p.Gly2730=) n.10601G= n.9590G= | |
12 | g.49039316C>G | CA384742980 | KMT2D | c.8272G>C (p.Gly2758Arg) c.8281G>C (p.Gly2761Arg) c.2291G>C c.1945G>C (p.Gly649Arg) c.2381G>C c.8269G>C (p.Gly2757Arg) c.8278G>C (p.Gly2760Arg) c.8260G>C (p.Gly2754Arg) c.8188G>C (p.Gly2730Arg) n.10601G>C n.9590G>C | |
12 | g.49039316C>T | CA384742981 | KMT2D | c.8272G>A (p.Gly2758Ser) c.8281G>A (p.Gly2761Ser) c.2291G>A c.1945G>A (p.Gly649Ser) c.2381G>A c.8269G>A (p.Gly2757Ser) c.8278G>A (p.Gly2760Ser) c.8260G>A (p.Gly2754Ser) c.8188G>A (p.Gly2730Ser) n.10601G>A n.9590G>A | |
12 | g.49039317A= | CA2034959194 | KMT2D | c.8271T= (p.Ser2757=) c.8280T= (p.Ser2760=) c.2290T= c.1944T= (p.Ser648=) c.2380T= c.8268T= (p.Ser2756=) c.8277T= (p.Ser2759=) c.8259T= (p.Ser2753=) c.8187T= (p.Ser2729=) n.10600T= n.9589T= | |
12 | g.49039317A>C | CA384742984 | KMT2D | c.8271T>G (p.Ser2757Arg) c.8280T>G (p.Ser2760Arg) c.2290T>G c.1944T>G (p.Ser648Arg) c.2380T>G c.8268T>G (p.Ser2756Arg) c.8277T>G (p.Ser2759Arg) c.8259T>G (p.Ser2753Arg) c.8187T>G (p.Ser2729Arg) n.10600T>G n.9589T>G | |
12 | g.49039317A>G | CA6546873 | KMT2D | c.8271T>C (p.Ser2757=) c.8280T>C (p.Ser2760=) c.2290T>C c.1944T>C (p.Ser648=) c.2380T>C c.8268T>C (p.Ser2756=) c.8277T>C (p.Ser2759=) c.8259T>C (p.Ser2753=) c.8187T>C (p.Ser2729=) n.10600T>C n.9589T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039317A>T | CA384742990 | KMT2D | c.8271T>A (p.Ser2757Arg) c.8280T>A (p.Ser2760Arg) c.2290T>A c.1944T>A (p.Ser648Arg) c.2380T>A c.8268T>A (p.Ser2756Arg) c.8277T>A (p.Ser2759Arg) c.8259T>A (p.Ser2753Arg) c.8187T>A (p.Ser2729Arg) n.10600T>A n.9589T>A | |
12 | g.49039318C>A | CA384742998 | KMT2D | c.8270G>T (p.Ser2757Ile) c.8279G>T (p.Ser2760Ile) c.2289G>T c.1943G>T (p.Ser648Ile) c.2379G>T c.8267G>T (p.Ser2756Ile) c.8276G>T (p.Ser2759Ile) c.8258G>T (p.Ser2753Ile) c.8186G>T (p.Ser2729Ile) n.10599G>T n.9588G>T | |
12 | g.49039318C>G | CA384742993 | KMT2D | c.8270G>C (p.Ser2757Thr) c.8279G>C (p.Ser2760Thr) c.2289G>C c.1943G>C (p.Ser648Thr) c.2379G>C c.8267G>C (p.Ser2756Thr) c.8276G>C (p.Ser2759Thr) c.8258G>C (p.Ser2753Thr) c.8186G>C (p.Ser2729Thr) n.10599G>C n.9588G>C | dbSNP gnomAD v4 |
12 | g.49039318C>T | CA384742995 | KMT2D | c.8270G>A (p.Ser2757Asn) c.8279G>A (p.Ser2760Asn) c.2289G>A c.1943G>A (p.Ser648Asn) c.2379G>A c.8267G>A (p.Ser2756Asn) c.8276G>A (p.Ser2759Asn) c.8258G>A (p.Ser2753Asn) c.8186G>A (p.Ser2729Asn) n.10599G>A n.9588G>A | gnomAD v4 |
12 | g.49039319T>A | CA384743000 | KMT2D | c.8269A>T (p.Ser2757Cys) c.8278A>T (p.Ser2760Cys) c.2288A>T c.1942A>T (p.Ser648Cys) c.2378A>T c.8266A>T (p.Ser2756Cys) c.8275A>T (p.Ser2759Cys) c.8257A>T (p.Ser2753Cys) c.8185A>T (p.Ser2729Cys) n.10598A>T n.9587A>T | |
12 | g.49039319T>C | CA384743003 | KMT2D | c.8269A>G (p.Ser2757Gly) c.8278A>G (p.Ser2760Gly) c.2288A>G c.1942A>G (p.Ser648Gly) c.2378A>G c.8266A>G (p.Ser2756Gly) c.8275A>G (p.Ser2759Gly) c.8257A>G (p.Ser2753Gly) c.8185A>G (p.Ser2729Gly) n.10598A>G n.9587A>G | |
12 | g.49039319T>G | CA384743005 | KMT2D | c.8269A>C (p.Ser2757Arg) c.8278A>C (p.Ser2760Arg) c.2288A>C c.1942A>C (p.Ser648Arg) c.2378A>C c.8266A>C (p.Ser2756Arg) c.8275A>C (p.Ser2759Arg) c.8257A>C (p.Ser2753Arg) c.8185A>C (p.Ser2729Arg) n.10598A>C n.9587A>C | |
12 | g.49039320C>A | CA479710675 | KMT2D | c.8268G>T (p.Leu2756=) c.8277G>T (p.Leu2759=) c.2287G>T c.1941G>T (p.Leu647=) c.2377G>T c.8265G>T (p.Leu2755=) c.8274G>T (p.Leu2758=) c.8256G>T (p.Leu2752=) c.8184G>T (p.Leu2728=) n.10597G>T n.9586G>T | |
12 | g.49039320C= | CA2034959200 | KMT2D | c.8268G= (p.Leu2756=) c.8277G= (p.Leu2759=) c.2287G= c.1941G= (p.Leu647=) c.2377G= c.8265G= (p.Leu2755=) c.8274G= (p.Leu2758=) c.8256G= (p.Leu2752=) c.8184G= (p.Leu2728=) n.10597G= n.9586G= | |
12 | g.49039320C>G | CA479710676 | KMT2D | c.8268G>C (p.Leu2756=) c.8277G>C (p.Leu2759=) c.2287G>C c.1941G>C (p.Leu647=) c.2377G>C c.8265G>C (p.Leu2755=) c.8274G>C (p.Leu2758=) c.8256G>C (p.Leu2752=) c.8184G>C (p.Leu2728=) n.10597G>C n.9586G>C | dbSNP |
12 | g.49039320C>T | CA479710677 | KMT2D | c.8268G>A (p.Leu2756=) c.8277G>A (p.Leu2759=) c.2287G>A c.1941G>A (p.Leu647=) c.2377G>A c.8265G>A (p.Leu2755=) c.8274G>A (p.Leu2758=) c.8256G>A (p.Leu2752=) c.8184G>A (p.Leu2728=) n.10597G>A n.9586G>A | ClinVar dbSNP gnomAD v4 |
12 | g.49039321A>C | CA384743007 | KMT2D | c.8267T>G (p.Leu2756Arg) c.8276T>G (p.Leu2759Arg) c.2286T>G c.1940T>G (p.Leu647Arg) c.2376T>G c.8264T>G (p.Leu2755Arg) c.8273T>G (p.Leu2758Arg) c.8255T>G (p.Leu2752Arg) c.8183T>G (p.Leu2728Arg) n.10596T>G n.9585T>G | |
12 | g.49039321A>G | CA384743010 | KMT2D | c.8267T>C (p.Leu2756Pro) c.8276T>C (p.Leu2759Pro) c.2286T>C c.1940T>C (p.Leu647Pro) c.2376T>C c.8264T>C (p.Leu2755Pro) c.8273T>C (p.Leu2758Pro) c.8255T>C (p.Leu2752Pro) c.8183T>C (p.Leu2728Pro) n.10596T>C n.9585T>C | gnomAD v4 |
12 | g.49039321A>T | CA384743012 | KMT2D | c.8267T>A (p.Leu2756Gln) c.8276T>A (p.Leu2759Gln) c.2286T>A c.1940T>A (p.Leu647Gln) c.2376T>A c.8264T>A (p.Leu2755Gln) c.8273T>A (p.Leu2758Gln) c.8255T>A (p.Leu2752Gln) c.8183T>A (p.Leu2728Gln) n.10596T>A n.9585T>A | |
12 | g.49039322G>A | CA479710685 | KMT2D | c.8266C>T (p.Leu2756=) c.8275C>T (p.Leu2759=) c.2285C>T c.1939C>T (p.Leu647=) c.2375C>T c.8263C>T (p.Leu2755=) c.8272C>T (p.Leu2758=) c.8254C>T (p.Leu2752=) c.8182C>T (p.Leu2728=) n.10595C>T n.9584C>T | gnomAD v4 |
12 | g.49039322G>C | CA384743014 | KMT2D | c.8266C>G (p.Leu2756Val) c.8275C>G (p.Leu2759Val) c.2285C>G c.1939C>G (p.Leu647Val) c.2375C>G c.8263C>G (p.Leu2755Val) c.8272C>G (p.Leu2758Val) c.8254C>G (p.Leu2752Val) c.8182C>G (p.Leu2728Val) n.10595C>G n.9584C>G | |
12 | g.49039322G>T | CA384743017 | KMT2D | c.8266C>A (p.Leu2756Met) c.8275C>A (p.Leu2759Met) c.2285C>A c.1939C>A (p.Leu647Met) c.2375C>A c.8263C>A (p.Leu2755Met) c.8272C>A (p.Leu2758Met) c.8254C>A (p.Leu2752Met) c.8182C>A (p.Leu2728Met) n.10595C>A n.9584C>A | |
12 | g.49039323C>A | CA384743019 | KMT2D | c.8265G>T (p.Lys2755Asn) c.8274G>T (p.Lys2758Asn) c.2284G>T c.1938G>T (p.Lys646Asn) c.2374G>T c.8262G>T (p.Lys2754Asn) c.8271G>T (p.Lys2757Asn) c.8253G>T (p.Lys2751Asn) c.8181G>T (p.Lys2727Asn) n.10594G>T n.9583G>T | |
12 | g.49039323C= | CA2034959202 | KMT2D | c.8265G= (p.Lys2755=) c.8274G= (p.Lys2758=) c.2284G= c.1938G= (p.Lys646=) c.2374G= c.8262G= (p.Lys2754=) c.8271G= (p.Lys2757=) c.8253G= (p.Lys2751=) c.8181G= (p.Lys2727=) n.10594G= n.9583G= | |
12 | g.49039323C>G | CA384743021 | KMT2D | c.8265G>C (p.Lys2755Asn) c.8274G>C (p.Lys2758Asn) c.2284G>C c.1938G>C (p.Lys646Asn) c.2374G>C c.8262G>C (p.Lys2754Asn) c.8271G>C (p.Lys2757Asn) c.8253G>C (p.Lys2751Asn) c.8181G>C (p.Lys2727Asn) n.10594G>C n.9583G>C | |
12 | g.49039323C>T | CA479710686 | KMT2D | c.8265G>A (p.Lys2755=) c.8274G>A (p.Lys2758=) c.2284G>A c.1938G>A (p.Lys646=) c.2374G>A c.8262G>A (p.Lys2754=) c.8271G>A (p.Lys2757=) c.8253G>A (p.Lys2751=) c.8181G>A (p.Lys2727=) n.10594G>A n.9583G>A | ClinVar dbSNP gnomAD v4 |
12 | g.49039324T>A | CA384743023 | KMT2D | c.8264A>T (p.Lys2755Met) c.8273A>T (p.Lys2758Met) c.2283A>T c.1937A>T (p.Lys646Met) c.2373A>T c.8261A>T (p.Lys2754Met) c.8270A>T (p.Lys2757Met) c.8252A>T (p.Lys2751Met) c.8180A>T (p.Lys2727Met) n.10593A>T n.9582A>T | |
12 | g.49039324T>C | CA384743025 | KMT2D | c.8264A>G (p.Lys2755Arg) c.8273A>G (p.Lys2758Arg) c.2283A>G c.1937A>G (p.Lys646Arg) c.2373A>G c.8261A>G (p.Lys2754Arg) c.8270A>G (p.Lys2757Arg) c.8252A>G (p.Lys2751Arg) c.8180A>G (p.Lys2727Arg) n.10593A>G n.9582A>G | |
12 | g.49039324T>G | CA6546874 | KMT2D | c.8264A>C (p.Lys2755Thr) c.8273A>C (p.Lys2758Thr) c.2283A>C c.1937A>C (p.Lys646Thr) c.2373A>C c.8261A>C (p.Lys2754Thr) c.8270A>C (p.Lys2757Thr) c.8252A>C (p.Lys2751Thr) c.8180A>C (p.Lys2727Thr) n.10593A>C n.9582A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039324T= | CA2034959207 | KMT2D | c.8264A= (p.Lys2755=) c.8273A= (p.Lys2758=) c.2283A= c.1937A= (p.Lys646=) c.2373A= c.8261A= (p.Lys2754=) c.8270A= (p.Lys2757=) c.8252A= (p.Lys2751=) c.8180A= (p.Lys2727=) n.10593A= n.9582A= | |
12 | g.49039325T>A | CA384743031 | KMT2D | c.8263A>T (p.Lys2755Ter) c.8272A>T (p.Lys2758Ter) c.2282A>T c.1936A>T (p.Lys646Ter) c.2372A>T c.8260A>T (p.Lys2754Ter) c.8269A>T (p.Lys2757Ter) c.8251A>T (p.Lys2751Ter) c.8179A>T (p.Lys2727Ter) n.10592A>T n.9581A>T | ClinVar dbSNP |
12 | g.49039325T>C | CA384743034 | KMT2D | c.8263A>G (p.Lys2755Glu) c.8272A>G (p.Lys2758Glu) c.2282A>G c.1936A>G (p.Lys646Glu) c.2372A>G c.8260A>G (p.Lys2754Glu) c.8269A>G (p.Lys2757Glu) c.8251A>G (p.Lys2751Glu) c.8179A>G (p.Lys2727Glu) n.10592A>G n.9581A>G | gnomAD v4 |
12 | g.49039325T>G | CA384743032 | KMT2D | c.8263A>C (p.Lys2755Gln) c.8272A>C (p.Lys2758Gln) c.2282A>C c.1936A>C (p.Lys646Gln) c.2372A>C c.8260A>C (p.Lys2754Gln) c.8269A>C (p.Lys2757Gln) c.8251A>C (p.Lys2751Gln) c.8179A>C (p.Lys2727Gln) n.10592A>C n.9581A>C | |
12 | g.49039325T= | CA2034959211 | KMT2D | c.8263A= (p.Lys2755=) c.8272A= (p.Lys2758=) c.2282A= c.1936A= (p.Lys646=) c.2372A= c.8260A= (p.Lys2754=) c.8269A= (p.Lys2757=) c.8251A= (p.Lys2751=) c.8179A= (p.Lys2727=) n.10592A= n.9581A= | |
12 | g.49039326G>A | CA479710694 | KMT2D | c.8262C>T (p.Ser2754=) c.8271C>T (p.Ser2757=) c.2281C>T c.1935C>T (p.Ser645=) c.2371C>T c.8259C>T (p.Ser2753=) c.8268C>T (p.Ser2756=) c.8250C>T (p.Ser2750=) c.8178C>T (p.Ser2726=) n.10591C>T n.9580C>T | ClinVar gnomAD v4 |
12 | g.49039326G>C | CA384743036 | KMT2D | c.8262C>G (p.Ser2754Arg) c.8271C>G (p.Ser2757Arg) c.2281C>G c.1935C>G (p.Ser645Arg) c.2371C>G c.8259C>G (p.Ser2753Arg) c.8268C>G (p.Ser2756Arg) c.8250C>G (p.Ser2750Arg) c.8178C>G (p.Ser2726Arg) n.10591C>G n.9580C>G | |
12 | g.49039326G>T | CA384743037 | KMT2D | c.8262C>A (p.Ser2754Arg) c.8271C>A (p.Ser2757Arg) c.2281C>A c.1935C>A (p.Ser645Arg) c.2371C>A c.8259C>A (p.Ser2753Arg) c.8268C>A (p.Ser2756Arg) c.8250C>A (p.Ser2750Arg) c.8178C>A (p.Ser2726Arg) n.10591C>A n.9580C>A | |
12 | g.49039327C>A | CA384743038 | KMT2D | c.8261G>T (p.Ser2754Ile) c.8270G>T (p.Ser2757Ile) c.2280G>T c.1934G>T (p.Ser645Ile) c.2370G>T c.8258G>T (p.Ser2753Ile) c.8267G>T (p.Ser2756Ile) c.8249G>T (p.Ser2750Ile) c.8177G>T (p.Ser2726Ile) n.10590G>T n.9579G>T | |
12 | g.49039327C>G | CA384743040 | KMT2D | c.8261G>C (p.Ser2754Thr) c.8270G>C (p.Ser2757Thr) c.2280G>C c.1934G>C (p.Ser645Thr) c.2370G>C c.8258G>C (p.Ser2753Thr) c.8267G>C (p.Ser2756Thr) c.8249G>C (p.Ser2750Thr) c.8177G>C (p.Ser2726Thr) n.10590G>C n.9579G>C | |
12 | g.49039327C>T | CA384743042 | KMT2D | c.8261G>A (p.Ser2754Asn) c.8270G>A (p.Ser2757Asn) c.2280G>A c.1934G>A (p.Ser645Asn) c.2370G>A c.8258G>A (p.Ser2753Asn) c.8267G>A (p.Ser2756Asn) c.8249G>A (p.Ser2750Asn) c.8177G>A (p.Ser2726Asn) n.10590G>A n.9579G>A | |
12 | g.49039328T>A | CA384743045 | KMT2D | c.8260A>T (p.Ser2754Cys) c.8269A>T (p.Ser2757Cys) c.2279A>T c.1933A>T (p.Ser645Cys) c.2369A>T c.8257A>T (p.Ser2753Cys) c.8266A>T (p.Ser2756Cys) c.8248A>T (p.Ser2750Cys) c.8176A>T (p.Ser2726Cys) n.10589A>T n.9578A>T | dbSNP |
12 | g.49039328T>C | CA6546875 | KMT2D | c.8260A>G (p.Ser2754Gly) c.8269A>G (p.Ser2757Gly) c.2279A>G c.1933A>G (p.Ser645Gly) c.2369A>G c.8257A>G (p.Ser2753Gly) c.8266A>G (p.Ser2756Gly) c.8248A>G (p.Ser2750Gly) c.8176A>G (p.Ser2726Gly) n.10589A>G n.9578A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49039328T>G | CA384743050 | KMT2D | c.8260A>C (p.Ser2754Arg) c.8269A>C (p.Ser2757Arg) c.2279A>C c.1933A>C (p.Ser645Arg) c.2369A>C c.8257A>C (p.Ser2753Arg) c.8266A>C (p.Ser2756Arg) c.8248A>C (p.Ser2750Arg) c.8176A>C (p.Ser2726Arg) n.10589A>C n.9578A>C | |
12 | g.49039328T= | CA2034959218 | KMT2D | c.8260A= (p.Ser2754=) c.8269A= (p.Ser2757=) c.2279A= c.1933A= (p.Ser645=) c.2369A= c.8257A= (p.Ser2753=) c.8266A= (p.Ser2756=) c.8248A= (p.Ser2750=) c.8176A= (p.Ser2726=) n.10589A= n.9578A= | |
12 | g.49039329T>A | CA479710695 | KMT2D | c.8259A>T (p.Pro2753=) c.8268A>T (p.Pro2756=) c.2278A>T c.1932A>T (p.Pro644=) c.2368A>T c.8256A>T (p.Pro2752=) c.8265A>T (p.Pro2755=) c.8247A>T (p.Pro2749=) c.8175A>T (p.Pro2725=) n.10588A>T n.9577A>T | |
12 | g.49039329T>C | CA479710697 | KMT2D | c.8259A>G (p.Pro2753=) c.8268A>G (p.Pro2756=) c.2278A>G c.1932A>G (p.Pro644=) c.2368A>G c.8256A>G (p.Pro2752=) c.8265A>G (p.Pro2755=) c.8247A>G (p.Pro2749=) c.8175A>G (p.Pro2725=) n.10588A>G n.9577A>G | ClinVar dbSNP |
12 | g.49039329T>G | CA479710699 | KMT2D | c.8259A>C (p.Pro2753=) c.8268A>C (p.Pro2756=) c.2278A>C c.1932A>C (p.Pro644=) c.2368A>C c.8256A>C (p.Pro2752=) c.8265A>C (p.Pro2755=) c.8247A>C (p.Pro2749=) c.8175A>C (p.Pro2725=) n.10588A>C n.9577A>C | dbSNP |
12 | g.49039329T= | CA2034959221 | KMT2D | c.8259A= (p.Pro2753=) c.8268A= (p.Pro2756=) c.2278A= c.1932A= (p.Pro644=) c.2368A= c.8256A= (p.Pro2752=) c.8265A= (p.Pro2755=) c.8247A= (p.Pro2749=) c.8175A= (p.Pro2725=) n.10588A= n.9577A= | |
12 | g.49039330G>A | CA384743052 | KMT2D | c.8258C>T (p.Pro2753Leu) c.8267C>T (p.Pro2756Leu) c.2277C>T c.1931C>T (p.Pro644Leu) c.2367C>T c.8255C>T (p.Pro2752Leu) c.8264C>T (p.Pro2755Leu) c.8246C>T (p.Pro2749Leu) c.8174C>T (p.Pro2725Leu) n.10587C>T n.9576C>T | dbSNP |
12 | g.49039330G>C | CA384743053 | KMT2D | c.8258C>G (p.Pro2753Arg) c.8267C>G (p.Pro2756Arg) c.2277C>G c.1931C>G (p.Pro644Arg) c.2367C>G c.8255C>G (p.Pro2752Arg) c.8264C>G (p.Pro2755Arg) c.8246C>G (p.Pro2749Arg) c.8174C>G (p.Pro2725Arg) n.10587C>G n.9576C>G | |
12 | g.49039330G= | CA2034959227 | KMT2D | c.8258C= (p.Pro2753=) c.8267C= (p.Pro2756=) c.2277C= c.1931C= (p.Pro644=) c.2367C= c.8255C= (p.Pro2752=) c.8264C= (p.Pro2755=) c.8246C= (p.Pro2749=) c.8174C= (p.Pro2725=) n.10587C= n.9576C= | |
12 | g.49039330G>T | CA384743055 | KMT2D | c.8258C>A (p.Pro2753Gln) c.8267C>A (p.Pro2756Gln) c.2277C>A c.1931C>A (p.Pro644Gln) c.2367C>A c.8255C>A (p.Pro2752Gln) c.8264C>A (p.Pro2755Gln) c.8246C>A (p.Pro2749Gln) c.8174C>A (p.Pro2725Gln) n.10587C>A n.9576C>A | |
12 | g.49039334dup | CA2726161296 | KMT2D | c.8258dup (p.Ser2754LysfsTer15) c.8267dup (p.Ser2757LysfsTer15) c.2277dup c.1931dup (p.Ser645LysfsTer15) c.2367dup c.8255dup (p.Ser2753LysfsTer15) c.8264dup (p.Ser2756LysfsTer15) c.8246dup (p.Ser2750LysfsTer15) c.8174dup (p.Ser2726LysfsTer15) n.10587dup n.9576dup | dbSNP |
12 | g.49039330_49039345delinsGGGGGCAACCCCACAA | CA2034959225 | KMT2D | c.8243_8258delinsTTGTGGGGTTGCCCCC (p.Leu2748=) c.8252_8267delinsTTGTGGGGTTGCCCCC (p.Leu2751=) c.2262_2277delinsTTGTGGGGTTGCCCCC c.1916_1931delinsTTGTGGGGTTGCCCCC (p.Leu639=) c.2352_2367delinsTTGTGGGGTTGCCCCC c.8240_8255delinsTTGTGGGGTTGCCCCC (p.Leu2747=) c.8249_8264delinsTTGTGGGGTTGCCCCC (p.Leu2750=) c.8231_8246delinsTTGTGGGGTTGCCCCC (p.Leu2744=) c.8159_8174delinsTTGTGGGGTTGCCCCC (p.Leu2720=) n.10572_10587delinsTTGTGGGGTTGCCCCC n.9561_9576delinsTTGTGGGGTTGCCCCC | |
12 | g.49039331G>A | CA6546876 | KMT2D | c.8257C>T (p.Pro2753Ser) c.8266C>T (p.Pro2756Ser) c.2276C>T c.1930C>T (p.Pro644Ser) c.2366C>T c.8254C>T (p.Pro2752Ser) c.8263C>T (p.Pro2755Ser) c.8245C>T (p.Pro2749Ser) c.8173C>T (p.Pro2725Ser) n.10586C>T n.9575C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49039331G>C | CA384743067 | KMT2D | c.8257C>G (p.Pro2753Ala) c.8266C>G (p.Pro2756Ala) c.2276C>G c.1930C>G (p.Pro644Ala) c.2366C>G c.8254C>G (p.Pro2752Ala) c.8263C>G (p.Pro2755Ala) c.8245C>G (p.Pro2749Ala) c.8173C>G (p.Pro2725Ala) n.10586C>G n.9575C>G | dbSNP gnomAD v4 |
12 | g.49039331G= | CA2034959233 | KMT2D | c.8257C= (p.Pro2753=) c.8266C= (p.Pro2756=) c.2276C= c.1930C= (p.Pro644=) c.2366C= c.8254C= (p.Pro2752=) c.8263C= (p.Pro2755=) c.8245C= (p.Pro2749=) c.8173C= (p.Pro2725=) n.10586C= n.9575C= | |
12 | g.49039331G>T | CA384743060 | KMT2D | c.8257C>A (p.Pro2753Thr) c.8266C>A (p.Pro2756Thr) c.2276C>A c.1930C>A (p.Pro644Thr) c.2366C>A c.8254C>A (p.Pro2752Thr) c.8263C>A (p.Pro2755Thr) c.8245C>A (p.Pro2749Thr) c.8173C>A (p.Pro2725Thr) n.10586C>A n.9575C>A | |
12 | g.49039333_49039347del | CA236646208 | KMT2D | c.8243_8257del (p.Leu2748_Pro2752del) c.8252_8266del (p.Leu2751_Pro2755del) c.2262_2276del c.1916_1930del (p.Leu639_Pro643del) c.2352_2366del c.8240_8254del (p.Leu2747_Pro2751del) c.8249_8263del (p.Leu2750_Pro2754del) c.8231_8245del (p.Leu2744_Pro2748del) c.8159_8173del (p.Leu2720_Pro2724del) n.10572_10586del n.9561_9575del | dbSNP |
12 | g.49039332G>A | CA479710708 | KMT2D | c.8256C>T (p.Pro2752=) c.8265C>T (p.Pro2755=) c.2275C>T c.1929C>T (p.Pro643=) c.2365C>T c.8253C>T (p.Pro2751=) c.8262C>T (p.Pro2754=) c.8244C>T (p.Pro2748=) c.8172C>T (p.Pro2724=) n.10585C>T n.9574C>T | gnomAD v4 |
12 | g.49039332G>C | CA479710706 | KMT2D | c.8256C>G (p.Pro2752=) c.8265C>G (p.Pro2755=) c.2275C>G c.1929C>G (p.Pro643=) c.2365C>G c.8253C>G (p.Pro2751=) c.8262C>G (p.Pro2754=) c.8244C>G (p.Pro2748=) c.8172C>G (p.Pro2724=) n.10585C>G n.9574C>G | |
12 | g.49039332G>T | CA479710707 | KMT2D | c.8256C>A (p.Pro2752=) c.8265C>A (p.Pro2755=) c.2275C>A c.1929C>A (p.Pro643=) c.2365C>A c.8253C>A (p.Pro2751=) c.8262C>A (p.Pro2754=) c.8244C>A (p.Pro2748=) c.8172C>A (p.Pro2724=) n.10585C>A n.9574C>A | |
12 | g.49039333G>A | CA384743070 | KMT2D | c.8255C>T (p.Pro2752Leu) c.8264C>T (p.Pro2755Leu) c.2274C>T c.1928C>T (p.Pro643Leu) c.2364C>T c.8252C>T (p.Pro2751Leu) c.8261C>T (p.Pro2754Leu) c.8243C>T (p.Pro2748Leu) c.8171C>T (p.Pro2724Leu) n.10584C>T n.9573C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039333G>C | CA384743073 | KMT2D | c.8255C>G (p.Pro2752Arg) c.8264C>G (p.Pro2755Arg) c.2274C>G c.1928C>G (p.Pro643Arg) c.2364C>G c.8252C>G (p.Pro2751Arg) c.8261C>G (p.Pro2754Arg) c.8243C>G (p.Pro2748Arg) c.8171C>G (p.Pro2724Arg) n.10584C>G n.9573C>G | |
12 | g.49039333G= | CA2034959238 | KMT2D | c.8255C= (p.Pro2752=) c.8264C= (p.Pro2755=) c.2274C= c.1928C= (p.Pro643=) c.2364C= c.8252C= (p.Pro2751=) c.8261C= (p.Pro2754=) c.8243C= (p.Pro2748=) c.8171C= (p.Pro2724=) n.10584C= n.9573C= | |
12 | g.49039333G>T | CA384743075 | KMT2D | c.8255C>A (p.Pro2752His) c.8264C>A (p.Pro2755His) c.2274C>A c.1928C>A (p.Pro643His) c.2364C>A c.8252C>A (p.Pro2751His) c.8261C>A (p.Pro2754His) c.8243C>A (p.Pro2748His) c.8171C>A (p.Pro2724His) n.10584C>A n.9573C>A | |
12 | g.49039334G>A | CA384743078 | KMT2D | c.8254C>T (p.Pro2752Ser) c.8263C>T (p.Pro2755Ser) c.2273C>T c.1927C>T (p.Pro643Ser) c.2363C>T c.8251C>T (p.Pro2751Ser) c.8260C>T (p.Pro2754Ser) c.8242C>T (p.Pro2748Ser) c.8170C>T (p.Pro2724Ser) n.10583C>T n.9572C>T | dbSNP gnomAD v2 |
12 | g.49039334G>C | CA384743081 | KMT2D | c.8254C>G (p.Pro2752Ala) c.8263C>G (p.Pro2755Ala) c.2273C>G c.1927C>G (p.Pro643Ala) c.2363C>G c.8251C>G (p.Pro2751Ala) c.8260C>G (p.Pro2754Ala) c.8242C>G (p.Pro2748Ala) c.8170C>G (p.Pro2724Ala) n.10583C>G n.9572C>G | COSMIC COSMIC |
12 | g.49039334G= | CA2034959244 | KMT2D | c.8254C= (p.Pro2752=) c.8263C= (p.Pro2755=) c.2273C= c.1927C= (p.Pro643=) c.2363C= c.8251C= (p.Pro2751=) c.8260C= (p.Pro2754=) c.8242C= (p.Pro2748=) c.8170C= (p.Pro2724=) n.10583C= n.9572C= | |
12 | g.49039334G>T | CA384743083 | KMT2D | c.8254C>A (p.Pro2752Thr) c.8263C>A (p.Pro2755Thr) c.2273C>A c.1927C>A (p.Pro643Thr) c.2363C>A c.8251C>A (p.Pro2751Thr) c.8260C>A (p.Pro2754Thr) c.8242C>A (p.Pro2748Thr) c.8170C>A (p.Pro2724Thr) n.10583C>A n.9572C>A | dbSNP |
12 | g.49039334_49039336del | CA2618608326 | KMT2D | c.8252_8254del (p.Leu2751_Pro2752delinsSer) c.8261_8263del (p.Leu2754_Pro2755delinsSer) c.2271_2273del c.1925_1927del (p.Leu642_Pro643delinsSer) c.2361_2363del c.8249_8251del (p.Leu2750_Pro2751delinsSer) c.8258_8260del (p.Leu2753_Pro2754delinsSer) c.8240_8242del (p.Leu2747_Pro2748delinsSer) c.8168_8170del (p.Leu2723_Pro2724delinsSer) n.10581_10583del n.9570_9572del | gnomAD v4 |
12 | g.49039335C>A | CA384743086 | KMT2D | c.8253G>T (p.Leu2751Phe) c.8262G>T (p.Leu2754Phe) c.2272G>T c.1926G>T (p.Leu642Phe) c.2362G>T c.8250G>T (p.Leu2750Phe) c.8259G>T (p.Leu2753Phe) c.8241G>T (p.Leu2747Phe) c.8169G>T (p.Leu2723Phe) n.10582G>T n.9571G>T | |
12 | g.49039335C>G | CA384743088 | KMT2D | c.8253G>C (p.Leu2751Phe) c.8262G>C (p.Leu2754Phe) c.2272G>C c.1926G>C (p.Leu642Phe) c.2362G>C c.8250G>C (p.Leu2750Phe) c.8259G>C (p.Leu2753Phe) c.8241G>C (p.Leu2747Phe) c.8169G>C (p.Leu2723Phe) n.10582G>C n.9571G>C | |
12 | g.49039335C>T | CA479710714 | KMT2D | c.8253G>A (p.Leu2751=) c.8262G>A (p.Leu2754=) c.2272G>A c.1926G>A (p.Leu642=) c.2362G>A c.8250G>A (p.Leu2750=) c.8259G>A (p.Leu2753=) c.8241G>A (p.Leu2747=) c.8169G>A (p.Leu2723=) n.10582G>A n.9571G>A | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.49039336A= | CA2034959247 | KMT2D | c.8252T= (p.Leu2751=) c.8261T= (p.Leu2754=) c.2271T= c.1925T= (p.Leu642=) c.2361T= c.8249T= (p.Leu2750=) c.8258T= (p.Leu2753=) c.8240T= (p.Leu2747=) c.8168T= (p.Leu2723=) n.10581T= n.9570T= | |
12 | g.49039336A>C | CA384743092 | KMT2D | c.8252T>G (p.Leu2751Trp) c.8261T>G (p.Leu2754Trp) c.2271T>G c.1925T>G (p.Leu642Trp) c.2361T>G c.8249T>G (p.Leu2750Trp) c.8258T>G (p.Leu2753Trp) c.8240T>G (p.Leu2747Trp) c.8168T>G (p.Leu2723Trp) n.10581T>G n.9570T>G | |
12 | g.49039336A>G | CA384743094 | KMT2D | c.8252T>C (p.Leu2751Ser) c.8261T>C (p.Leu2754Ser) c.2271T>C c.1925T>C (p.Leu642Ser) c.2361T>C c.8249T>C (p.Leu2750Ser) c.8258T>C (p.Leu2753Ser) c.8240T>C (p.Leu2747Ser) c.8168T>C (p.Leu2723Ser) n.10581T>C n.9570T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49039336A>T | CA384743097 | KMT2D | c.8252T>A (p.Leu2751Ter) c.8261T>A (p.Leu2754Ter) c.2271T>A c.1925T>A (p.Leu642Ter) c.2361T>A c.8249T>A (p.Leu2750Ter) c.8258T>A (p.Leu2753Ter) c.8240T>A (p.Leu2747Ter) c.8168T>A (p.Leu2723Ter) n.10581T>A n.9570T>A | |
12 | g.49039337A>C | CA384743102 | KMT2D | c.8251T>G (p.Leu2751Val) c.8260T>G (p.Leu2754Val) c.2270T>G c.1924T>G (p.Leu642Val) c.2360T>G c.8248T>G (p.Leu2750Val) c.8257T>G (p.Leu2753Val) c.8239T>G (p.Leu2747Val) c.8167T>G (p.Leu2723Val) n.10580T>G n.9569T>G | |
12 | g.49039337A>G | CA479710717 | KMT2D | c.8251T>C (p.Leu2751=) c.8260T>C (p.Leu2754=) c.2270T>C c.1924T>C (p.Leu642=) c.2360T>C c.8248T>C (p.Leu2750=) c.8257T>C (p.Leu2753=) c.8239T>C (p.Leu2747=) c.8167T>C (p.Leu2723=) n.10580T>C n.9569T>C | |
12 | g.49039337A>T | CA384743099 | KMT2D | c.8251T>A (p.Leu2751Met) c.8260T>A (p.Leu2754Met) c.2270T>A c.1924T>A (p.Leu642Met) c.2360T>A c.8248T>A (p.Leu2750Met) c.8257T>A (p.Leu2753Met) c.8239T>A (p.Leu2747Met) c.8167T>A (p.Leu2723Met) n.10580T>A n.9569T>A | |
12 | g.49039338C>A | CA479710719 | KMT2D | c.8250G>T (p.Gly2750=) c.8259G>T (p.Gly2753=) c.2269G>T c.1923G>T (p.Gly641=) c.2359G>T c.8247G>T (p.Gly2749=) c.8256G>T (p.Gly2752=) c.8238G>T (p.Gly2746=) c.8166G>T (p.Gly2722=) n.10579G>T n.9568G>T | |
12 | g.49039338C>G | CA479710721 | KMT2D | c.8250G>C (p.Gly2750=) c.8259G>C (p.Gly2753=) c.2269G>C c.1923G>C (p.Gly641=) c.2359G>C c.8247G>C (p.Gly2749=) c.8256G>C (p.Gly2752=) c.8238G>C (p.Gly2746=) c.8166G>C (p.Gly2722=) n.10579G>C n.9568G>C | dbSNP |
12 | g.49039338C>T | CA479710722 | KMT2D | c.8250G>A (p.Gly2750=) c.8259G>A (p.Gly2753=) c.2269G>A c.1923G>A (p.Gly641=) c.2359G>A c.8247G>A (p.Gly2749=) c.8256G>A (p.Gly2752=) c.8238G>A (p.Gly2746=) c.8166G>A (p.Gly2722=) n.10579G>A n.9568G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039339C>A | CA384743105 | KMT2D | c.8249G>T (p.Gly2750Val) c.8258G>T (p.Gly2753Val) c.2268G>T c.1922G>T (p.Gly641Val) c.2358G>T c.8246G>T (p.Gly2749Val) c.8255G>T (p.Gly2752Val) c.8237G>T (p.Gly2746Val) c.8165G>T (p.Gly2722Val) n.10578G>T n.9567G>T | |
12 | g.49039339C= | CA2034959251 | KMT2D | c.8249G= (p.Gly2750=) c.8258G= (p.Gly2753=) c.2268G= c.1922G= (p.Gly641=) c.2358G= c.8246G= (p.Gly2749=) c.8255G= (p.Gly2752=) c.8237G= (p.Gly2746=) c.8165G= (p.Gly2722=) n.10578G= n.9567G= | |
12 | g.49039339C>G | CA384743107 | KMT2D | c.8249G>C (p.Gly2750Ala) c.8258G>C (p.Gly2753Ala) c.2268G>C c.1922G>C (p.Gly641Ala) c.2358G>C c.8246G>C (p.Gly2749Ala) c.8255G>C (p.Gly2752Ala) c.8237G>C (p.Gly2746Ala) c.8165G>C (p.Gly2722Ala) n.10578G>C n.9567G>C | gnomAD v4 |
12 | g.49039339C>T | CA384743110 | KMT2D | c.8249G>A (p.Gly2750Glu) c.8258G>A (p.Gly2753Glu) c.2268G>A c.1922G>A (p.Gly641Glu) c.2358G>A c.8246G>A (p.Gly2749Glu) c.8255G>A (p.Gly2752Glu) c.8237G>A (p.Gly2746Glu) c.8165G>A (p.Gly2722Glu) n.10578G>A n.9567G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49039340C>A | CA384743113 | KMT2D | c.8248G>T (p.Gly2750Trp) c.8257G>T (p.Gly2753Trp) c.2267G>T c.1921G>T (p.Gly641Trp) c.2357G>T c.8245G>T (p.Gly2749Trp) c.8254G>T (p.Gly2752Trp) c.8236G>T (p.Gly2746Trp) c.8164G>T (p.Gly2722Trp) n.10577G>T n.9566G>T | |
12 | g.49039340C= | CA2034959255 | KMT2D | c.8248G= (p.Gly2750=) c.8257G= (p.Gly2753=) c.2267G= c.1921G= (p.Gly641=) c.2357G= c.8245G= (p.Gly2749=) c.8254G= (p.Gly2752=) c.8236G= (p.Gly2746=) c.8164G= (p.Gly2722=) n.10577G= n.9566G= | |
12 | g.49039340C>G | CA384743115 | KMT2D | c.8248G>C (p.Gly2750Arg) c.8257G>C (p.Gly2753Arg) c.2267G>C c.1921G>C (p.Gly641Arg) c.2357G>C c.8245G>C (p.Gly2749Arg) c.8254G>C (p.Gly2752Arg) c.8236G>C (p.Gly2746Arg) c.8164G>C (p.Gly2722Arg) n.10577G>C n.9566G>C | |
12 | g.49039340C>T | CA6546877 | KMT2D | c.8248G>A (p.Gly2750Arg) c.8257G>A (p.Gly2753Arg) c.2267G>A c.1921G>A (p.Gly641Arg) c.2357G>A c.8245G>A (p.Gly2749Arg) c.8254G>A (p.Gly2752Arg) c.8236G>A (p.Gly2746Arg) c.8164G>A (p.Gly2722Arg) n.10577G>A n.9566G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |