UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49022063G>A | CA10603301 | KMT2D | c.471C>T n.1173C>T n.2135C>T n.907C>T c.16549C>T (p.Arg5517Ter) c.472C>T (p.Arg158Ter) c.1094C>T (n.1094C>T) c.1655C>T c.16510C>T (p.Arg5504Ter) c.502C>T (p.Arg168Ter) c.16498C>T (p.Arg5500Ter) c.16501C>T (p.Arg5501Ter) c.544C>T (p.Arg182Ter) c.16558C>T (p.Arg5520Ter) c.16555C>T (p.Arg5519Ter) c.16546C>T (p.Arg5516Ter) c.16537C>T (p.Arg5513Ter) c.16492C>T (p.Arg5498Ter) c.16465C>T (p.Arg5489Ter) n.16678C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49022063G>C | CA384675742 | KMT2D | c.471C>G n.1173C>G n.2135C>G n.907C>G c.16549C>G (p.Arg5517Gly) c.472C>G (p.Arg158Gly) c.1094C>G (n.1094C>G) c.1655C>G c.16510C>G (p.Arg5504Gly) c.502C>G (p.Arg168Gly) c.16498C>G (p.Arg5500Gly) c.16501C>G (p.Arg5501Gly) c.544C>G (p.Arg182Gly) c.16558C>G (p.Arg5520Gly) c.16555C>G (p.Arg5519Gly) c.16546C>G (p.Arg5516Gly) c.16537C>G (p.Arg5513Gly) c.16492C>G (p.Arg5498Gly) c.16465C>G (p.Arg5489Gly) n.16678C>G | dbSNP |
| 12 | g.49022063G= | CA2034962978 | KMT2D | c.471C= n.1173C= n.2135C= n.907C= c.16549C= (p.Arg5517=) c.472C= (p.Arg158=) c.1094C= (n.1094C=) c.1655C= c.16510C= (p.Arg5504=) c.502C= (p.Arg168=) c.16498C= (p.Arg5500=) c.16501C= (p.Arg5501=) c.544C= (p.Arg182=) c.16558C= (p.Arg5520=) c.16555C= (p.Arg5519=) c.16546C= (p.Arg5516=) c.16537C= (p.Arg5513=) c.16492C= (p.Arg5498=) c.16465C= (p.Arg5489=) n.16678C= | |
| 12 | g.49022063G>T | CA479520850 | KMT2D | c.471C>A n.1173C>A n.2135C>A n.907C>A c.16549C>A (p.Arg5517=) c.472C>A (p.Arg158=) c.1094C>A (n.1094C>A) c.1655C>A c.16510C>A (p.Arg5504=) c.502C>A (p.Arg168=) c.16498C>A (p.Arg5500=) c.16501C>A (p.Arg5501=) c.544C>A (p.Arg182=) c.16558C>A (p.Arg5520=) c.16555C>A (p.Arg5519=) c.16546C>A (p.Arg5516=) c.16537C>A (p.Arg5513=) c.16492C>A (p.Arg5498=) c.16465C>A (p.Arg5489=) n.16678C>A | |
| 12 | g.49022064C>A | CA479520851 | KMT2D | c.470G>T n.1172G>T n.2134G>T n.906G>T c.16548G>T (p.Arg5516=) c.471G>T (p.Arg157=) c.1093G>T (n.1093G>T) c.1654G>T c.16509G>T (p.Arg5503=) c.501G>T (p.Arg167=) c.16497G>T (p.Arg5499=) c.16500G>T (p.Arg5500=) c.543G>T (p.Arg181=) c.16557G>T (p.Arg5519=) c.16554G>T (p.Arg5518=) c.16545G>T (p.Arg5515=) c.16536G>T (p.Arg5512=) c.16491G>T (p.Arg5497=) c.16464G>T (p.Arg5488=) n.16677G>T | |
| 12 | g.49022064C>G | CA479520852 | KMT2D | c.470G>C n.1172G>C n.2134G>C n.906G>C c.16548G>C (p.Arg5516=) c.471G>C (p.Arg157=) c.1093G>C (n.1093G>C) c.1654G>C c.16509G>C (p.Arg5503=) c.501G>C (p.Arg167=) c.16497G>C (p.Arg5499=) c.16500G>C (p.Arg5500=) c.543G>C (p.Arg181=) c.16557G>C (p.Arg5519=) c.16554G>C (p.Arg5518=) c.16545G>C (p.Arg5515=) c.16536G>C (p.Arg5512=) c.16491G>C (p.Arg5497=) c.16464G>C (p.Arg5488=) n.16677G>C | dbSNP |
| 12 | g.49022064C>T | CA479520853 | KMT2D | c.470G>A n.1172G>A n.2134G>A n.906G>A c.16548G>A (p.Arg5516=) c.471G>A (p.Arg157=) c.1093G>A (n.1093G>A) c.1654G>A c.16509G>A (p.Arg5503=) c.501G>A (p.Arg167=) c.16497G>A (p.Arg5499=) c.16500G>A (p.Arg5500=) c.543G>A (p.Arg181=) c.16557G>A (p.Arg5519=) c.16554G>A (p.Arg5518=) c.16545G>A (p.Arg5515=) c.16536G>A (p.Arg5512=) c.16491G>A (p.Arg5497=) c.16464G>A (p.Arg5488=) n.16677G>A | dbSNP |
| 12 | g.49022065del | CA2580085573 | KMT2D | c.470del n.1172del n.2134del n.906del c.16548del (p.Arg5517GlufsTer8) c.471del (p.Arg158GlufsTer8) c.1093del (n.1093del) c.1654del c.16509del (p.Arg5504GlufsTer8) c.501del (p.Arg168GlufsTer8) c.16497del (p.Arg5500GlufsTer8) c.16500del (p.Arg5501GlufsTer8) c.543del (p.Arg182GlufsTer8) c.16557del (p.Arg5520GlufsTer8) c.16554del (p.Arg5519GlufsTer8) c.16545del (p.Arg5516GlufsTer8) c.16536del (p.Arg5513GlufsTer8) c.16491del (p.Arg5498GlufsTer8) c.16464del (p.Arg5489GlufsTer8) n.16677del | ClinVar |
| 12 | g.49022065C>A | CA384675747 | KMT2D | c.469G>T n.1171G>T n.2133G>T n.905G>T c.16547G>T (p.Arg5516Leu) c.470G>T (p.Arg157Leu) c.1092G>T (n.1092G>T) c.1653G>T c.16508G>T (p.Arg5503Leu) c.500G>T (p.Arg167Leu) c.16496G>T (p.Arg5499Leu) c.16499G>T (p.Arg5500Leu) c.542G>T (p.Arg181Leu) c.16556G>T (p.Arg5519Leu) c.16553G>T (p.Arg5518Leu) c.16544G>T (p.Arg5515Leu) c.16535G>T (p.Arg5512Leu) c.16490G>T (p.Arg5497Leu) c.16463G>T (p.Arg5488Leu) n.16676G>T | |
| 12 | g.49022065C= | CA2034962979 | KMT2D | c.469G= n.1171G= n.2133G= n.905G= c.16547G= (p.Arg5516=) c.470G= (p.Arg157=) c.1092G= (n.1092G=) c.1653G= c.16508G= (p.Arg5503=) c.500G= (p.Arg167=) c.16496G= (p.Arg5499=) c.16499G= (p.Arg5500=) c.542G= (p.Arg181=) c.16556G= (p.Arg5519=) c.16553G= (p.Arg5518=) c.16544G= (p.Arg5515=) c.16535G= (p.Arg5512=) c.16490G= (p.Arg5497=) c.16463G= (p.Arg5488=) n.16676G= | |
| 12 | g.49022065C>G | CA384675749 | KMT2D | c.469G>C n.1171G>C n.2133G>C n.905G>C c.16547G>C (p.Arg5516Pro) c.470G>C (p.Arg157Pro) c.1092G>C (n.1092G>C) c.1653G>C c.16508G>C (p.Arg5503Pro) c.500G>C (p.Arg167Pro) c.16496G>C (p.Arg5499Pro) c.16499G>C (p.Arg5500Pro) c.542G>C (p.Arg181Pro) c.16556G>C (p.Arg5519Pro) c.16553G>C (p.Arg5518Pro) c.16544G>C (p.Arg5515Pro) c.16535G>C (p.Arg5512Pro) c.16490G>C (p.Arg5497Pro) c.16463G>C (p.Arg5488Pro) n.16676G>C | |
| 12 | g.49022065C>T | CA6545363 | KMT2D | c.469G>A n.1171G>A n.2133G>A n.905G>A c.16547G>A (p.Arg5516Gln) c.470G>A (p.Arg157Gln) c.1092G>A (n.1092G>A) c.1653G>A c.16508G>A (p.Arg5503Gln) c.500G>A (p.Arg167Gln) c.16496G>A (p.Arg5499Gln) c.16499G>A (p.Arg5500Gln) c.542G>A (p.Arg181Gln) c.16556G>A (p.Arg5519Gln) c.16553G>A (p.Arg5518Gln) c.16544G>A (p.Arg5515Gln) c.16535G>A (p.Arg5512Gln) c.16490G>A (p.Arg5497Gln) c.16463G>A (p.Arg5488Gln) n.16676G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022066G>A | CA384675752 | KMT2D | c.468C>T n.1170C>T n.2132C>T n.904C>T c.16546C>T (p.Arg5516Trp) c.469C>T (p.Arg157Trp) c.1091C>T (n.1091C>T) c.1652C>T c.16507C>T (p.Arg5503Trp) c.499C>T (p.Arg167Trp) c.16495C>T (p.Arg5499Trp) c.16498C>T (p.Arg5500Trp) c.541C>T (p.Arg181Trp) c.16555C>T (p.Arg5519Trp) c.16552C>T (p.Arg5518Trp) c.16543C>T (p.Arg5515Trp) c.16534C>T (p.Arg5512Trp) c.16489C>T (p.Arg5497Trp) c.16462C>T (p.Arg5488Trp) n.16675C>T | ClinVar dbSNP |
| 12 | g.49022066G>C | CA384675754 | KMT2D | c.468C>G n.1170C>G n.2132C>G n.904C>G c.16546C>G (p.Arg5516Gly) c.469C>G (p.Arg157Gly) c.1091C>G (n.1091C>G) c.1652C>G c.16507C>G (p.Arg5503Gly) c.499C>G (p.Arg167Gly) c.16495C>G (p.Arg5499Gly) c.16498C>G (p.Arg5500Gly) c.541C>G (p.Arg181Gly) c.16555C>G (p.Arg5519Gly) c.16552C>G (p.Arg5518Gly) c.16543C>G (p.Arg5515Gly) c.16534C>G (p.Arg5512Gly) c.16489C>G (p.Arg5497Gly) c.16462C>G (p.Arg5488Gly) n.16675C>G | dbSNP |
| 12 | g.49022066G= | CA2034962981 | KMT2D | c.468C= n.1170C= n.2132C= n.904C= c.16546C= (p.Arg5516=) c.469C= (p.Arg157=) c.1091C= (n.1091C=) c.1652C= c.16507C= (p.Arg5503=) c.499C= (p.Arg167=) c.16495C= (p.Arg5499=) c.16498C= (p.Arg5500=) c.541C= (p.Arg181=) c.16555C= (p.Arg5519=) c.16552C= (p.Arg5518=) c.16543C= (p.Arg5515=) c.16534C= (p.Arg5512=) c.16489C= (p.Arg5497=) c.16462C= (p.Arg5488=) n.16675C= | |
| 12 | g.49022066G>T | CA479520855 | KMT2D | c.468C>A n.1170C>A n.2132C>A n.904C>A c.16546C>A (p.Arg5516=) c.469C>A (p.Arg157=) c.1091C>A (n.1091C>A) c.1652C>A c.16507C>A (p.Arg5503=) c.499C>A (p.Arg167=) c.16495C>A (p.Arg5499=) c.16498C>A (p.Arg5500=) c.541C>A (p.Arg181=) c.16555C>A (p.Arg5519=) c.16552C>A (p.Arg5518=) c.16543C>A (p.Arg5515=) c.16534C>A (p.Arg5512=) c.16489C>A (p.Arg5497=) c.16462C>A (p.Arg5488=) n.16675C>A | |
| 12 | g.49022067G>A | CA479520856 | KMT2D | c.467C>T n.1169C>T n.2131C>T n.903C>T c.16545C>T (p.Ser5515=) c.468C>T (p.Ser156=) c.1090C>T (n.1090C>T) c.1651C>T c.16506C>T (p.Ser5502=) c.498C>T (p.Ser166=) c.16494C>T (p.Ser5498=) c.16497C>T (p.Ser5499=) c.540C>T (p.Ser180=) c.16554C>T (p.Ser5518=) c.16551C>T (p.Ser5517=) c.16542C>T (p.Ser5514=) c.16533C>T (p.Ser5511=) c.16488C>T (p.Ser5496=) c.16461C>T (p.Ser5487=) n.16674C>T | dbSNP gnomAD v2 |
| 12 | g.49022067G>C | CA384675760 | KMT2D | c.467C>G n.1169C>G n.2131C>G n.903C>G c.16545C>G (p.Ser5515Arg) c.468C>G (p.Ser156Arg) c.1090C>G (n.1090C>G) c.1651C>G c.16506C>G (p.Ser5502Arg) c.498C>G (p.Ser166Arg) c.16494C>G (p.Ser5498Arg) c.16497C>G (p.Ser5499Arg) c.540C>G (p.Ser180Arg) c.16554C>G (p.Ser5518Arg) c.16551C>G (p.Ser5517Arg) c.16542C>G (p.Ser5514Arg) c.16533C>G (p.Ser5511Arg) c.16488C>G (p.Ser5496Arg) c.16461C>G (p.Ser5487Arg) n.16674C>G | dbSNP |
| 12 | g.49022067G= | CA2034962983 | KMT2D | c.467C= n.1169C= n.2131C= n.903C= c.16545C= (p.Ser5515=) c.468C= (p.Ser156=) c.1090C= (n.1090C=) c.1651C= c.16506C= (p.Ser5502=) c.498C= (p.Ser166=) c.16494C= (p.Ser5498=) c.16497C= (p.Ser5499=) c.540C= (p.Ser180=) c.16554C= (p.Ser5518=) c.16551C= (p.Ser5517=) c.16542C= (p.Ser5514=) c.16533C= (p.Ser5511=) c.16488C= (p.Ser5496=) c.16461C= (p.Ser5487=) n.16674C= | |
| 12 | g.49022067G>T | CA384675763 | KMT2D | c.467C>A n.1169C>A n.2131C>A n.903C>A c.16545C>A (p.Ser5515Arg) c.468C>A (p.Ser156Arg) c.1090C>A (n.1090C>A) c.1651C>A c.16506C>A (p.Ser5502Arg) c.498C>A (p.Ser166Arg) c.16494C>A (p.Ser5498Arg) c.16497C>A (p.Ser5499Arg) c.540C>A (p.Ser180Arg) c.16554C>A (p.Ser5518Arg) c.16551C>A (p.Ser5517Arg) c.16542C>A (p.Ser5514Arg) c.16533C>A (p.Ser5511Arg) c.16488C>A (p.Ser5496Arg) c.16461C>A (p.Ser5487Arg) n.16674C>A | dbSNP |
| 12 | g.49022068C>A | CA384675765 | KMT2D | c.466G>T n.1168G>T n.2130G>T n.902G>T c.16544G>T (p.Ser5515Ile) c.467G>T (p.Ser156Ile) c.1089G>T (n.1089G>T) c.1650G>T c.16505G>T (p.Ser5502Ile) c.497G>T (p.Ser166Ile) c.16493G>T (p.Ser5498Ile) c.16496G>T (p.Ser5499Ile) c.539G>T (p.Ser180Ile) c.16553G>T (p.Ser5518Ile) c.16550G>T (p.Ser5517Ile) c.16541G>T (p.Ser5514Ile) c.16532G>T (p.Ser5511Ile) c.16487G>T (p.Ser5496Ile) c.16460G>T (p.Ser5487Ile) n.16673G>T | dbSNP |
| 12 | g.49022068C>G | CA384675766 | KMT2D | c.466G>C n.1168G>C n.2130G>C n.902G>C c.16544G>C (p.Ser5515Thr) c.467G>C (p.Ser156Thr) c.1089G>C (n.1089G>C) c.1650G>C c.16505G>C (p.Ser5502Thr) c.497G>C (p.Ser166Thr) c.16493G>C (p.Ser5498Thr) c.16496G>C (p.Ser5499Thr) c.539G>C (p.Ser180Thr) c.16553G>C (p.Ser5518Thr) c.16550G>C (p.Ser5517Thr) c.16541G>C (p.Ser5514Thr) c.16532G>C (p.Ser5511Thr) c.16487G>C (p.Ser5496Thr) c.16460G>C (p.Ser5487Thr) n.16673G>C | dbSNP |
| 12 | g.49022068C>T | CA384675768 | KMT2D | c.466G>A n.1168G>A n.2130G>A n.902G>A c.16544G>A (p.Ser5515Asn) c.467G>A (p.Ser156Asn) c.1089G>A (n.1089G>A) c.1650G>A c.16505G>A (p.Ser5502Asn) c.497G>A (p.Ser166Asn) c.16493G>A (p.Ser5498Asn) c.16496G>A (p.Ser5499Asn) c.539G>A (p.Ser180Asn) c.16553G>A (p.Ser5518Asn) c.16550G>A (p.Ser5517Asn) c.16541G>A (p.Ser5514Asn) c.16532G>A (p.Ser5511Asn) c.16487G>A (p.Ser5496Asn) c.16460G>A (p.Ser5487Asn) n.16673G>A | dbSNP |
| 12 | g.49022069T>A | CA384675770 | KMT2D | c.465A>T n.1167A>T n.2129A>T n.901A>T c.16543A>T (p.Ser5515Cys) c.466A>T (p.Ser156Cys) c.1088A>T (n.1088A>T) c.1649A>T c.16504A>T (p.Ser5502Cys) c.496A>T (p.Ser166Cys) c.16492A>T (p.Ser5498Cys) c.16495A>T (p.Ser5499Cys) c.538A>T (p.Ser180Cys) c.16552A>T (p.Ser5518Cys) c.16549A>T (p.Ser5517Cys) c.16540A>T (p.Ser5514Cys) c.16531A>T (p.Ser5511Cys) c.16486A>T (p.Ser5496Cys) c.16459A>T (p.Ser5487Cys) n.16672A>T | |
| 12 | g.49022069T>C | CA384675771 | KMT2D | c.465A>G n.1167A>G n.2129A>G n.901A>G c.16543A>G (p.Ser5515Gly) c.466A>G (p.Ser156Gly) c.1088A>G (n.1088A>G) c.1649A>G c.16504A>G (p.Ser5502Gly) c.496A>G (p.Ser166Gly) c.16492A>G (p.Ser5498Gly) c.16495A>G (p.Ser5499Gly) c.538A>G (p.Ser180Gly) c.16552A>G (p.Ser5518Gly) c.16549A>G (p.Ser5517Gly) c.16540A>G (p.Ser5514Gly) c.16531A>G (p.Ser5511Gly) c.16486A>G (p.Ser5496Gly) c.16459A>G (p.Ser5487Gly) n.16672A>G | |
| 12 | g.49022069T>G | CA384675773 | KMT2D | c.465A>C n.1167A>C n.2129A>C n.901A>C c.16543A>C (p.Ser5515Arg) c.466A>C (p.Ser156Arg) c.1088A>C (n.1088A>C) c.1649A>C c.16504A>C (p.Ser5502Arg) c.496A>C (p.Ser166Arg) c.16492A>C (p.Ser5498Arg) c.16495A>C (p.Ser5499Arg) c.538A>C (p.Ser180Arg) c.16552A>C (p.Ser5518Arg) c.16549A>C (p.Ser5517Arg) c.16540A>C (p.Ser5514Arg) c.16531A>C (p.Ser5511Arg) c.16486A>C (p.Ser5496Arg) c.16459A>C (p.Ser5487Arg) n.16672A>C | |
| 12 | g.49022070G>A | CA479520859 | KMT2D | c.464C>T n.1166C>T n.2128C>T n.900C>T c.16542C>T (p.Ser5514=) c.465C>T (p.Ser155=) c.1087C>T (n.1087C>T) c.1648C>T c.16503C>T (p.Ser5501=) c.495C>T (p.Ser165=) c.16491C>T (p.Ser5497=) c.16494C>T (p.Ser5498=) c.537C>T (p.Ser179=) c.16551C>T (p.Ser5517=) c.16548C>T (p.Ser5516=) c.16539C>T (p.Ser5513=) c.16530C>T (p.Ser5510=) c.16485C>T (p.Ser5495=) c.16458C>T (p.Ser5486=) n.16671C>T | dbSNP |
| 12 | g.49022070G>C | CA479520857 | KMT2D | c.464C>G n.1166C>G n.2128C>G n.900C>G c.16542C>G (p.Ser5514=) c.465C>G (p.Ser155=) c.1087C>G (n.1087C>G) c.1648C>G c.16503C>G (p.Ser5501=) c.495C>G (p.Ser165=) c.16491C>G (p.Ser5497=) c.16494C>G (p.Ser5498=) c.537C>G (p.Ser179=) c.16551C>G (p.Ser5517=) c.16548C>G (p.Ser5516=) c.16539C>G (p.Ser5513=) c.16530C>G (p.Ser5510=) c.16485C>G (p.Ser5495=) c.16458C>G (p.Ser5486=) n.16671C>G | dbSNP |
| 12 | g.49022070G>T | CA479520858 | KMT2D | c.464C>A n.1166C>A n.2128C>A n.900C>A c.16542C>A (p.Ser5514=) c.465C>A (p.Ser155=) c.1087C>A (n.1087C>A) c.1648C>A c.16503C>A (p.Ser5501=) c.495C>A (p.Ser165=) c.16491C>A (p.Ser5497=) c.16494C>A (p.Ser5498=) c.537C>A (p.Ser179=) c.16551C>A (p.Ser5517=) c.16548C>A (p.Ser5516=) c.16539C>A (p.Ser5513=) c.16530C>A (p.Ser5510=) c.16485C>A (p.Ser5495=) c.16458C>A (p.Ser5486=) n.16671C>A | dbSNP |
| 12 | g.49022071G>A | CA384675780 | KMT2D | c.463C>T n.1165C>T n.2127C>T n.899C>T c.16541C>T (p.Ser5514Phe) c.464C>T (p.Ser155Phe) c.1086C>T (n.1086C>T) c.1647C>T c.16502C>T (p.Ser5501Phe) c.494C>T (p.Ser165Phe) c.16490C>T (p.Ser5497Phe) c.16493C>T (p.Ser5498Phe) c.536C>T (p.Ser179Phe) c.16550C>T (p.Ser5517Phe) c.16547C>T (p.Ser5516Phe) c.16538C>T (p.Ser5513Phe) c.16529C>T (p.Ser5510Phe) c.16484C>T (p.Ser5495Phe) c.16457C>T (p.Ser5486Phe) n.16670C>T | dbSNP |
| 12 | g.49022071G>C | CA384675776 | KMT2D | c.463C>G n.1165C>G n.2127C>G n.899C>G c.16541C>G (p.Ser5514Cys) c.464C>G (p.Ser155Cys) c.1086C>G (n.1086C>G) c.1647C>G c.16502C>G (p.Ser5501Cys) c.494C>G (p.Ser165Cys) c.16490C>G (p.Ser5497Cys) c.16493C>G (p.Ser5498Cys) c.536C>G (p.Ser179Cys) c.16550C>G (p.Ser5517Cys) c.16547C>G (p.Ser5516Cys) c.16538C>G (p.Ser5513Cys) c.16529C>G (p.Ser5510Cys) c.16484C>G (p.Ser5495Cys) c.16457C>G (p.Ser5486Cys) n.16670C>G | dbSNP gnomAD v4 |
| 12 | g.49022071G>T | CA384675778 | KMT2D | c.463C>A n.1165C>A n.2127C>A n.899C>A c.16541C>A (p.Ser5514Tyr) c.464C>A (p.Ser155Tyr) c.1086C>A (n.1086C>A) c.1647C>A c.16502C>A (p.Ser5501Tyr) c.494C>A (p.Ser165Tyr) c.16490C>A (p.Ser5497Tyr) c.16493C>A (p.Ser5498Tyr) c.536C>A (p.Ser179Tyr) c.16550C>A (p.Ser5517Tyr) c.16547C>A (p.Ser5516Tyr) c.16538C>A (p.Ser5513Tyr) c.16529C>A (p.Ser5510Tyr) c.16484C>A (p.Ser5495Tyr) c.16457C>A (p.Ser5486Tyr) n.16670C>A | |
| 12 | g.49022072A>C | CA384675782 | KMT2D | c.462T>G n.1164T>G n.2126T>G n.898T>G c.16540T>G (p.Ser5514Ala) c.463T>G (p.Ser155Ala) c.1085T>G (n.1085T>G) c.1646T>G c.16501T>G (p.Ser5501Ala) c.493T>G (p.Ser165Ala) c.16489T>G (p.Ser5497Ala) c.16492T>G (p.Ser5498Ala) c.535T>G (p.Ser179Ala) c.16549T>G (p.Ser5517Ala) c.16546T>G (p.Ser5516Ala) c.16537T>G (p.Ser5513Ala) c.16528T>G (p.Ser5510Ala) c.16483T>G (p.Ser5495Ala) c.16456T>G (p.Ser5486Ala) n.16669T>G | |
| 12 | g.49022072A>G | CA384675784 | KMT2D | c.462T>C n.1164T>C n.2126T>C n.898T>C c.16540T>C (p.Ser5514Pro) c.463T>C (p.Ser155Pro) c.1085T>C (n.1085T>C) c.1646T>C c.16501T>C (p.Ser5501Pro) c.493T>C (p.Ser165Pro) c.16489T>C (p.Ser5497Pro) c.16492T>C (p.Ser5498Pro) c.535T>C (p.Ser179Pro) c.16549T>C (p.Ser5517Pro) c.16546T>C (p.Ser5516Pro) c.16537T>C (p.Ser5513Pro) c.16528T>C (p.Ser5510Pro) c.16483T>C (p.Ser5495Pro) c.16456T>C (p.Ser5486Pro) n.16669T>C | |
| 12 | g.49022072A>T | CA384675786 | KMT2D | c.462T>A n.1164T>A n.2126T>A n.898T>A c.16540T>A (p.Ser5514Thr) c.463T>A (p.Ser155Thr) c.1085T>A (n.1085T>A) c.1646T>A c.16501T>A (p.Ser5501Thr) c.493T>A (p.Ser165Thr) c.16489T>A (p.Ser5497Thr) c.16492T>A (p.Ser5498Thr) c.535T>A (p.Ser179Thr) c.16549T>A (p.Ser5517Thr) c.16546T>A (p.Ser5516Thr) c.16537T>A (p.Ser5513Thr) c.16528T>A (p.Ser5510Thr) c.16483T>A (p.Ser5495Thr) c.16456T>A (p.Ser5486Thr) n.16669T>A | |
| 12 | g.49022072_49022075delinsAGAT | CA2034962985 | KMT2D | c.459_462delinsATCT n.1161_1164delinsATCT n.2123_2126delinsATCT n.895_898delinsATCT c.16537_16540delinsATCT (p.Ile5513=) c.460_463delinsATCT (p.Ile154=) c.1082_1085delinsATCT (n.1082_1085delinsATCT) c.1643_1646delinsATCT c.16498_16501delinsATCT (p.Ile5500=) c.490_493delinsATCT (p.Ile164=) c.16486_16489delinsATCT (p.Ile5496=) c.16489_16492delinsATCT (p.Ile5497=) c.532_535delinsATCT (p.Ile178=) c.16546_16549delinsATCT (p.Ile5516=) c.16543_16546delinsATCT (p.Ile5515=) c.16534_16537delinsATCT (p.Ile5512=) c.16525_16528delinsATCT (p.Ile5509=) c.16480_16483delinsATCT (p.Ile5494=) c.16453_16456delinsATCT (p.Ile5485=) n.16666_16669delinsATCT | |
| 12 | g.49022073G>A | CA479520861 | KMT2D | c.461C>T n.1163C>T n.2125C>T n.897C>T c.16539C>T (p.Ile5513=) c.462C>T (p.Ile154=) c.1084C>T (n.1084C>T) c.1645C>T c.16500C>T (p.Ile5500=) c.492C>T (p.Ile164=) c.16488C>T (p.Ile5496=) c.16491C>T (p.Ile5497=) c.534C>T (p.Ile178=) c.16548C>T (p.Ile5516=) c.16545C>T (p.Ile5515=) c.16536C>T (p.Ile5512=) c.16527C>T (p.Ile5509=) c.16482C>T (p.Ile5494=) c.16455C>T (p.Ile5485=) n.16668C>T | dbSNP |
| 12 | g.49022073G>C | CA384675788 | KMT2D | c.461C>G n.1163C>G n.2125C>G n.897C>G c.16539C>G (p.Ile5513Met) c.462C>G (p.Ile154Met) c.1084C>G (n.1084C>G) c.1645C>G c.16500C>G (p.Ile5500Met) c.492C>G (p.Ile164Met) c.16488C>G (p.Ile5496Met) c.16491C>G (p.Ile5497Met) c.534C>G (p.Ile178Met) c.16548C>G (p.Ile5516Met) c.16545C>G (p.Ile5515Met) c.16536C>G (p.Ile5512Met) c.16527C>G (p.Ile5509Met) c.16482C>G (p.Ile5494Met) c.16455C>G (p.Ile5485Met) n.16668C>G | dbSNP |
| 12 | g.49022073G>T | CA479520862 | KMT2D | c.461C>A n.1163C>A n.2125C>A n.897C>A c.16539C>A (p.Ile5513=) c.462C>A (p.Ile154=) c.1084C>A (n.1084C>A) c.1645C>A c.16500C>A (p.Ile5500=) c.492C>A (p.Ile164=) c.16488C>A (p.Ile5496=) c.16491C>A (p.Ile5497=) c.534C>A (p.Ile178=) c.16548C>A (p.Ile5516=) c.16545C>A (p.Ile5515=) c.16536C>A (p.Ile5512=) c.16527C>A (p.Ile5509=) c.16482C>A (p.Ile5494=) c.16455C>A (p.Ile5485=) n.16668C>A | |
| 12 | g.49022082_49022084del | CA271616 | KMT2D | c.459_461del n.1161_1163del n.2123_2125del n.895_897del c.16537_16539del (p.Ile5513del) c.460_462del (p.Ile154del) c.1082_1084del (n.1082_1084del) c.1643_1645del c.16498_16500del (p.Ile5500del) c.490_492del (p.Ile164del) c.16486_16488del (p.Ile5496del) c.16489_16491del (p.Ile5497del) c.532_534del (p.Ile178del) c.16546_16548del (p.Ile5516del) c.16543_16545del (p.Ile5515del) c.16534_16536del (p.Ile5512del) c.16525_16527del (p.Ile5509del) c.16480_16482del (p.Ile5494del) c.16453_16455del (p.Ile5485del) n.16666_16668del | ClinVar dbSNP |
| 12 | g.49022074A>C | CA384675804 | KMT2D | c.460T>G n.1162T>G n.2124T>G n.896T>G c.16538T>G (p.Ile5513Ser) c.461T>G (p.Ile154Ser) c.1083T>G (n.1083T>G) c.1644T>G c.16499T>G (p.Ile5500Ser) c.491T>G (p.Ile164Ser) c.16487T>G (p.Ile5496Ser) c.16490T>G (p.Ile5497Ser) c.533T>G (p.Ile178Ser) c.16547T>G (p.Ile5516Ser) c.16544T>G (p.Ile5515Ser) c.16535T>G (p.Ile5512Ser) c.16526T>G (p.Ile5509Ser) c.16481T>G (p.Ile5494Ser) c.16454T>G (p.Ile5485Ser) n.16667T>G | |
| 12 | g.49022074A>G | CA384675808 | KMT2D | c.460T>C n.1162T>C n.2124T>C n.896T>C c.16538T>C (p.Ile5513Thr) c.461T>C (p.Ile154Thr) c.1083T>C (n.1083T>C) c.1644T>C c.16499T>C (p.Ile5500Thr) c.491T>C (p.Ile164Thr) c.16487T>C (p.Ile5496Thr) c.16490T>C (p.Ile5497Thr) c.533T>C (p.Ile178Thr) c.16547T>C (p.Ile5516Thr) c.16544T>C (p.Ile5515Thr) c.16535T>C (p.Ile5512Thr) c.16526T>C (p.Ile5509Thr) c.16481T>C (p.Ile5494Thr) c.16454T>C (p.Ile5485Thr) n.16667T>C | dbSNP |
| 12 | g.49022074A>T | CA384675805 | KMT2D | c.460T>A n.1162T>A n.2124T>A n.896T>A c.16538T>A (p.Ile5513Asn) c.461T>A (p.Ile154Asn) c.1083T>A (n.1083T>A) c.1644T>A c.16499T>A (p.Ile5500Asn) c.491T>A (p.Ile164Asn) c.16487T>A (p.Ile5496Asn) c.16490T>A (p.Ile5497Asn) c.533T>A (p.Ile178Asn) c.16547T>A (p.Ile5516Asn) c.16544T>A (p.Ile5515Asn) c.16535T>A (p.Ile5512Asn) c.16526T>A (p.Ile5509Asn) c.16481T>A (p.Ile5494Asn) c.16454T>A (p.Ile5485Asn) n.16667T>A | |
| 12 | g.49022075T>A | CA384675812 | KMT2D | c.459A>T n.1161A>T n.2123A>T n.895A>T c.16537A>T (p.Ile5513Phe) c.460A>T (p.Ile154Phe) c.1082A>T (n.1082A>T) c.1643A>T c.16498A>T (p.Ile5500Phe) c.490A>T (p.Ile164Phe) c.16486A>T (p.Ile5496Phe) c.16489A>T (p.Ile5497Phe) c.532A>T (p.Ile178Phe) c.16546A>T (p.Ile5516Phe) c.16543A>T (p.Ile5515Phe) c.16534A>T (p.Ile5512Phe) c.16525A>T (p.Ile5509Phe) c.16480A>T (p.Ile5494Phe) c.16453A>T (p.Ile5485Phe) n.16666A>T | dbSNP |
| 12 | g.49022075T>C | CA384675816 | KMT2D | c.459A>G n.1161A>G n.2123A>G n.895A>G c.16537A>G (p.Ile5513Val) c.460A>G (p.Ile154Val) c.1082A>G (n.1082A>G) c.1643A>G c.16498A>G (p.Ile5500Val) c.490A>G (p.Ile164Val) c.16486A>G (p.Ile5496Val) c.16489A>G (p.Ile5497Val) c.532A>G (p.Ile178Val) c.16546A>G (p.Ile5516Val) c.16543A>G (p.Ile5515Val) c.16534A>G (p.Ile5512Val) c.16525A>G (p.Ile5509Val) c.16480A>G (p.Ile5494Val) c.16453A>G (p.Ile5485Val) n.16666A>G | |
| 12 | g.49022075T>G | CA384675820 | KMT2D | c.459A>C n.1161A>C n.2123A>C n.895A>C c.16537A>C (p.Ile5513Leu) c.460A>C (p.Ile154Leu) c.1082A>C (n.1082A>C) c.1643A>C c.16498A>C (p.Ile5500Leu) c.490A>C (p.Ile164Leu) c.16486A>C (p.Ile5496Leu) c.16489A>C (p.Ile5497Leu) c.532A>C (p.Ile178Leu) c.16546A>C (p.Ile5516Leu) c.16543A>C (p.Ile5515Leu) c.16534A>C (p.Ile5512Leu) c.16525A>C (p.Ile5509Leu) c.16480A>C (p.Ile5494Leu) c.16453A>C (p.Ile5485Leu) n.16666A>C | dbSNP |
| 12 | g.49022076G>A | CA479520864 | KMT2D | c.458C>T n.1160C>T n.2122C>T n.894C>T c.16536C>T (p.Ile5512=) c.459C>T (p.Ile153=) c.1081C>T (n.1081C>T) c.1642C>T c.16497C>T (p.Ile5499=) c.489C>T (p.Ile163=) c.16485C>T (p.Ile5495=) c.16488C>T (p.Ile5496=) c.531C>T (p.Ile177=) c.16545C>T (p.Ile5515=) c.16542C>T (p.Ile5514=) c.16533C>T (p.Ile5511=) c.16524C>T (p.Ile5508=) c.16479C>T (p.Ile5493=) c.16452C>T (p.Ile5484=) n.16665C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022076G>C | CA384675825 | KMT2D | c.458C>G n.1160C>G n.2122C>G n.894C>G c.16536C>G (p.Ile5512Met) c.459C>G (p.Ile153Met) c.1081C>G (n.1081C>G) c.1642C>G c.16497C>G (p.Ile5499Met) c.489C>G (p.Ile163Met) c.16485C>G (p.Ile5495Met) c.16488C>G (p.Ile5496Met) c.531C>G (p.Ile177Met) c.16545C>G (p.Ile5515Met) c.16542C>G (p.Ile5514Met) c.16533C>G (p.Ile5511Met) c.16524C>G (p.Ile5508Met) c.16479C>G (p.Ile5493Met) c.16452C>G (p.Ile5484Met) n.16665C>G | dbSNP |
| 12 | g.49022076G= | CA2034962987 | KMT2D | c.458C= n.1160C= n.2122C= n.894C= c.16536C= (p.Ile5512=) c.459C= (p.Ile153=) c.1081C= (n.1081C=) c.1642C= c.16497C= (p.Ile5499=) c.489C= (p.Ile163=) c.16485C= (p.Ile5495=) c.16488C= (p.Ile5496=) c.531C= (p.Ile177=) c.16545C= (p.Ile5515=) c.16542C= (p.Ile5514=) c.16533C= (p.Ile5511=) c.16524C= (p.Ile5508=) c.16479C= (p.Ile5493=) c.16452C= (p.Ile5484=) n.16665C= | |
| 12 | g.49022076G>T | CA479520865 | KMT2D | c.458C>A n.1160C>A n.2122C>A n.894C>A c.16536C>A (p.Ile5512=) c.459C>A (p.Ile153=) c.1081C>A (n.1081C>A) c.1642C>A c.16497C>A (p.Ile5499=) c.489C>A (p.Ile163=) c.16485C>A (p.Ile5495=) c.16488C>A (p.Ile5496=) c.531C>A (p.Ile177=) c.16545C>A (p.Ile5515=) c.16542C>A (p.Ile5514=) c.16533C>A (p.Ile5511=) c.16524C>A (p.Ile5508=) c.16479C>A (p.Ile5493=) c.16452C>A (p.Ile5484=) n.16665C>A | gnomAD v4 |