Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35729921_35729996del | CA2814254885 | KMT2B | c.4852-46_4881del c.2459-46_2488del c.136-46_165del c.344-46_373del n.71-46_100del c.139-46_168del c.4460-46_4489del c.4918-46_4947del c.2240-46_2269del c.4642-46_4671del c.4354-46_4383del c.1882-46_1911del | |
19 | g.35729968G>A | CA405418635 | KMT2B | c.4853G>A (p.Arg1618His) c.2460G>A (n.2460G>A) c.137G>A (p.Arg46His) c.345G>A n.72G>A c.140G>A (p.Arg47His) c.4461G>A c.4919G>A (p.Arg1640His) c.2241G>A c.4643G>A (p.Arg1548His) c.4355G>A (p.Arg1452His) c.1883G>A (p.Arg628His) | dbSNP gnomAD v2 |
19 | g.35729968G>C | CA405418637 | KMT2B | c.4853G>C (p.Arg1618Pro) c.2460G>C (n.2460G>C) c.137G>C (p.Arg46Pro) c.345G>C n.72G>C c.140G>C (p.Arg47Pro) c.4461G>C c.4919G>C (p.Arg1640Pro) c.2241G>C c.4643G>C (p.Arg1548Pro) c.4355G>C (p.Arg1452Pro) c.1883G>C (p.Arg628Pro) | |
19 | g.35729968G= | CA2333793072 | KMT2B | c.4853G= (p.Arg1618=) c.2460G= (n.2460G=) c.137G= (p.Arg46=) c.345G= n.72G= c.140G= (p.Arg47=) c.4461G= c.4919G= (p.Arg1640=) c.2241G= c.4643G= (p.Arg1548=) c.4355G= (p.Arg1452=) c.1883G= (p.Arg628=) | |
19 | g.35729968G>T | CA405418639 | KMT2B | c.4853G>T (p.Arg1618Leu) c.2460G>T (n.2460G>T) c.137G>T (p.Arg46Leu) c.345G>T n.72G>T c.140G>T (p.Arg47Leu) c.4461G>T c.4919G>T (p.Arg1640Leu) c.2241G>T c.4643G>T (p.Arg1548Leu) c.4355G>T (p.Arg1452Leu) c.1883G>T (p.Arg628Leu) | |
19 | g.35729969C>A | CA507072432 | KMT2B | c.4854C>A (p.Arg1618=) c.2461C>A (n.2461C>A) c.138C>A (p.Arg46=) c.346C>A n.73C>A c.141C>A (p.Arg47=) c.4462C>A c.4920C>A (p.Arg1640=) c.2242C>A c.4644C>A (p.Arg1548=) c.4356C>A (p.Arg1452=) c.1884C>A (p.Arg628=) | |
19 | g.35729969C>G | CA507072433 | KMT2B | c.4854C>G (p.Arg1618=) c.2461C>G (n.2461C>G) c.138C>G (p.Arg46=) c.346C>G n.73C>G c.141C>G (p.Arg47=) c.4462C>G c.4920C>G (p.Arg1640=) c.2242C>G c.4644C>G (p.Arg1548=) c.4356C>G (p.Arg1452=) c.1884C>G (p.Arg628=) | |
19 | g.35729969C>T | CA507072434 | KMT2B | c.4854C>T (p.Arg1618=) c.2461C>T (n.2461C>T) c.138C>T (p.Arg46=) c.346C>T n.73C>T c.141C>T (p.Arg47=) c.4462C>T c.4920C>T (p.Arg1640=) c.2242C>T c.4644C>T (p.Arg1548=) c.4356C>T (p.Arg1452=) c.1884C>T (p.Arg628=) | |
19 | g.35729970T>A | CA405418642 | KMT2B | c.4855T>A (p.Cys1619Ser) c.2462T>A (n.2462T>A) c.139T>A (p.Cys47Ser) c.347T>A n.74T>A c.142T>A (p.Cys48Ser) c.4463T>A c.4921T>A (p.Cys1641Ser) c.2243T>A c.4645T>A (p.Cys1549Ser) c.4357T>A (p.Cys1453Ser) c.1885T>A (p.Cys629Ser) | |
19 | g.35729970T>C | CA405418645 | KMT2B | c.4855T>C (p.Cys1619Arg) c.2462T>C (n.2462T>C) c.139T>C (p.Cys47Arg) c.347T>C n.74T>C c.142T>C (p.Cys48Arg) c.4463T>C c.4921T>C (p.Cys1641Arg) c.2243T>C c.4645T>C (p.Cys1549Arg) c.4357T>C (p.Cys1453Arg) c.1885T>C (p.Cys629Arg) | |
19 | g.35729970T>G | CA405418643 | KMT2B | c.4855T>G (p.Cys1619Gly) c.2462T>G (n.2462T>G) c.139T>G (p.Cys47Gly) c.347T>G n.74T>G c.142T>G (p.Cys48Gly) c.4463T>G c.4921T>G (p.Cys1641Gly) c.2243T>G c.4645T>G (p.Cys1549Gly) c.4357T>G (p.Cys1453Gly) c.1885T>G (p.Cys629Gly) | |
19 | g.35729971G>A | CA405418648 | KMT2B | c.4856G>A (p.Cys1619Tyr) c.2463G>A (n.2463G>A) c.140G>A (p.Cys47Tyr) c.348G>A n.75G>A c.143G>A (p.Cys48Tyr) c.4464G>A c.4922G>A (p.Cys1641Tyr) c.2244G>A c.4646G>A (p.Cys1549Tyr) c.4358G>A (p.Cys1453Tyr) c.1886G>A (p.Cys629Tyr) | |
19 | g.35729971G>C | CA405418652 | KMT2B | c.4856G>C (p.Cys1619Ser) c.2463G>C (n.2463G>C) c.140G>C (p.Cys47Ser) c.348G>C n.75G>C c.143G>C (p.Cys48Ser) c.4464G>C c.4922G>C (p.Cys1641Ser) c.2244G>C c.4646G>C (p.Cys1549Ser) c.4358G>C (p.Cys1453Ser) c.1886G>C (p.Cys629Ser) | |
19 | g.35729971G>T | CA405418650 | KMT2B | c.4856G>T (p.Cys1619Phe) c.2463G>T (n.2463G>T) c.140G>T (p.Cys47Phe) c.348G>T n.75G>T c.143G>T (p.Cys48Phe) c.4464G>T c.4922G>T (p.Cys1641Phe) c.2244G>T c.4646G>T (p.Cys1549Phe) c.4358G>T (p.Cys1453Phe) c.1886G>T (p.Cys629Phe) | |
19 | g.35729972C>A | CA405418655 | KMT2B | c.4857C>A (p.Cys1619Ter) c.2464C>A (n.2464C>A) c.141C>A (p.Cys47Ter) c.349C>A n.76C>A c.144C>A (p.Cys48Ter) c.4465C>A c.4923C>A (p.Cys1641Ter) c.2245C>A c.4647C>A (p.Cys1549Ter) c.4359C>A (p.Cys1453Ter) c.1887C>A (p.Cys629Ter) | |
19 | g.35729972C= | CA2333793073 | KMT2B | c.4857C= (p.Cys1619=) c.2464C= (n.2464C=) c.141C= (p.Cys47=) c.349C= n.76C= c.144C= (p.Cys48=) c.4465C= c.4923C= (p.Cys1641=) c.2245C= c.4647C= (p.Cys1549=) c.4359C= (p.Cys1453=) c.1887C= (p.Cys629=) | |
19 | g.35729972C>G | CA405418659 | KMT2B | c.4857C>G (p.Cys1619Trp) c.2464C>G (n.2464C>G) c.141C>G (p.Cys47Trp) c.349C>G n.76C>G c.144C>G (p.Cys48Trp) c.4465C>G c.4923C>G (p.Cys1641Trp) c.2245C>G c.4647C>G (p.Cys1549Trp) c.4359C>G (p.Cys1453Trp) c.1887C>G (p.Cys629Trp) | |
19 | g.35729972C>T | CA9385258 | KMT2B | c.4857C>T (p.Cys1619=) c.2464C>T (n.2464C>T) c.141C>T (p.Cys47=) c.349C>T n.76C>T c.144C>T (p.Cys48=) c.4465C>T c.4923C>T (p.Cys1641=) c.2245C>T c.4647C>T (p.Cys1549=) c.4359C>T (p.Cys1453=) c.1887C>T (p.Cys629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35729973G>A | CA405418662 | KMT2B | c.4858G>A (p.Glu1620Lys) c.2465G>A (n.2465G>A) c.142G>A (p.Glu48Lys) c.350G>A n.77G>A c.145G>A (p.Glu49Lys) c.4466G>A c.4924G>A (p.Glu1642Lys) c.2246G>A c.4648G>A (p.Glu1550Lys) c.4360G>A (p.Glu1454Lys) c.1888G>A (p.Glu630Lys) | dbSNP gnomAD v4 |
19 | g.35729973G>C | CA405418663 | KMT2B | c.4858G>C (p.Glu1620Gln) c.2465G>C (n.2465G>C) c.142G>C (p.Glu48Gln) c.350G>C n.77G>C c.145G>C (p.Glu49Gln) c.4466G>C c.4924G>C (p.Glu1642Gln) c.2246G>C c.4648G>C (p.Glu1550Gln) c.4360G>C (p.Glu1454Gln) c.1888G>C (p.Glu630Gln) | |
19 | g.35729973G= | CA2333793074 | KMT2B | c.4858G= (p.Glu1620=) c.2465G= (n.2465G=) c.142G= (p.Glu48=) c.350G= n.77G= c.145G= (p.Glu49=) c.4466G= c.4924G= (p.Glu1642=) c.2246G= c.4648G= (p.Glu1550=) c.4360G= (p.Glu1454=) c.1888G= (p.Glu630=) | |
19 | g.35729973G>T | CA405418665 | KMT2B | c.4858G>T (p.Glu1620Ter) c.2465G>T (n.2465G>T) c.142G>T (p.Glu48Ter) c.350G>T n.77G>T c.145G>T (p.Glu49Ter) c.4466G>T c.4924G>T (p.Glu1642Ter) c.2246G>T c.4648G>T (p.Glu1550Ter) c.4360G>T (p.Glu1454Ter) c.1888G>T (p.Glu630Ter) | |
19 | g.35729974A>C | CA405418667 | KMT2B | c.4859A>C (p.Glu1620Ala) c.2466A>C (n.2466A>C) c.143A>C (p.Glu48Ala) c.351A>C n.78A>C c.146A>C (p.Glu49Ala) c.4467A>C c.4925A>C (p.Glu1642Ala) c.2247A>C c.4649A>C (p.Glu1550Ala) c.4361A>C (p.Glu1454Ala) c.1889A>C (p.Glu630Ala) | |
19 | g.35729974A>G | CA405418669 | KMT2B | c.4859A>G (p.Glu1620Gly) c.2466A>G (n.2466A>G) c.143A>G (p.Glu48Gly) c.351A>G n.78A>G c.146A>G (p.Glu49Gly) c.4467A>G c.4925A>G (p.Glu1642Gly) c.2247A>G c.4649A>G (p.Glu1550Gly) c.4361A>G (p.Glu1454Gly) c.1889A>G (p.Glu630Gly) | |
19 | g.35729974A>T | CA405418671 | KMT2B | c.4859A>T (p.Glu1620Val) c.2466A>T (n.2466A>T) c.143A>T (p.Glu48Val) c.351A>T n.78A>T c.146A>T (p.Glu49Val) c.4467A>T c.4925A>T (p.Glu1642Val) c.2247A>T c.4649A>T (p.Glu1550Val) c.4361A>T (p.Glu1454Val) c.1889A>T (p.Glu630Val) | |
19 | g.35729975G>A | CA507072439 | KMT2B | c.4860G>A (p.Glu1620=) c.2467G>A (n.2467G>A) c.144G>A (p.Glu48=) c.352G>A n.79G>A c.147G>A (p.Glu49=) c.4468G>A c.4926G>A (p.Glu1642=) c.2248G>A c.4650G>A (p.Glu1550=) c.4362G>A (p.Glu1454=) c.1890G>A (p.Glu630=) | |
19 | g.35729975G>C | CA405418673 | KMT2B | c.4860G>C (p.Glu1620Asp) c.2467G>C (n.2467G>C) c.144G>C (p.Glu48Asp) c.352G>C n.79G>C c.147G>C (p.Glu49Asp) c.4468G>C c.4926G>C (p.Glu1642Asp) c.2248G>C c.4650G>C (p.Glu1550Asp) c.4362G>C (p.Glu1454Asp) c.1890G>C (p.Glu630Asp) | |
19 | g.35729975G>T | CA405418675 | KMT2B | c.4860G>T (p.Glu1620Asp) c.2467G>T (n.2467G>T) c.144G>T (p.Glu48Asp) c.352G>T n.79G>T c.147G>T (p.Glu49Asp) c.4468G>T c.4926G>T (p.Glu1642Asp) c.2248G>T c.4650G>T (p.Glu1550Asp) c.4362G>T (p.Glu1454Asp) c.1890G>T (p.Glu630Asp) | gnomAD v4 |
19 | g.35729976C>A | CA405418678 | KMT2B | c.4861C>A (p.Leu1621Ile) c.2468C>A (n.2468C>A) c.145C>A (p.Leu49Ile) c.353C>A n.80C>A c.148C>A (p.Leu50Ile) c.4469C>A c.4927C>A (p.Leu1643Ile) c.2249C>A c.4651C>A (p.Leu1551Ile) c.4363C>A (p.Leu1455Ile) c.1891C>A (p.Leu631Ile) | |
19 | g.35729976C>G | CA405418680 | KMT2B | c.4861C>G (p.Leu1621Val) c.2468C>G (n.2468C>G) c.145C>G (p.Leu49Val) c.353C>G n.80C>G c.148C>G (p.Leu50Val) c.4469C>G c.4927C>G (p.Leu1643Val) c.2249C>G c.4651C>G (p.Leu1551Val) c.4363C>G (p.Leu1455Val) c.1891C>G (p.Leu631Val) | |
19 | g.35729976C>T | CA405418682 | KMT2B | c.4861C>T (p.Leu1621Phe) c.2468C>T (n.2468C>T) c.145C>T (p.Leu49Phe) c.353C>T n.80C>T c.148C>T (p.Leu50Phe) c.4469C>T c.4927C>T (p.Leu1643Phe) c.2249C>T c.4651C>T (p.Leu1551Phe) c.4363C>T (p.Leu1455Phe) c.1891C>T (p.Leu631Phe) | |
19 | g.35729977T>A | CA405418690 | KMT2B | c.4862T>A (p.Leu1621His) c.2469T>A (n.2469T>A) c.146T>A (p.Leu49His) c.354T>A n.81T>A c.149T>A (p.Leu50His) c.4470T>A c.4928T>A (p.Leu1643His) c.2250T>A c.4652T>A (p.Leu1551His) c.4364T>A (p.Leu1455His) c.1892T>A (p.Leu631His) | |
19 | g.35729977T>C | CA405418684 | KMT2B | c.4862T>C (p.Leu1621Pro) c.2469T>C (n.2469T>C) c.146T>C (p.Leu49Pro) c.354T>C n.81T>C c.149T>C (p.Leu50Pro) c.4470T>C c.4928T>C (p.Leu1643Pro) c.2250T>C c.4652T>C (p.Leu1551Pro) c.4364T>C (p.Leu1455Pro) c.1892T>C (p.Leu631Pro) | |
19 | g.35729977T>G | CA405418687 | KMT2B | c.4862T>G (p.Leu1621Arg) c.2469T>G (n.2469T>G) c.146T>G (p.Leu49Arg) c.354T>G n.81T>G c.149T>G (p.Leu50Arg) c.4470T>G c.4928T>G (p.Leu1643Arg) c.2250T>G c.4652T>G (p.Leu1551Arg) c.4364T>G (p.Leu1455Arg) c.1892T>G (p.Leu631Arg) | |
19 | g.35729978C>A | CA507072447 | KMT2B | c.4863C>A (p.Leu1621=) c.2470C>A (n.2470C>A) c.147C>A (p.Leu49=) c.355C>A n.82C>A c.150C>A (p.Leu50=) c.4471C>A c.4929C>A (p.Leu1643=) c.2251C>A c.4653C>A (p.Leu1551=) c.4365C>A (p.Leu1455=) c.1893C>A (p.Leu631=) | |
19 | g.35729978C= | CA2333793075 | KMT2B | c.4863C= (p.Leu1621=) c.2470C= (n.2470C=) c.147C= (p.Leu49=) c.355C= n.82C= c.150C= (p.Leu50=) c.4471C= c.4929C= (p.Leu1643=) c.2251C= c.4653C= (p.Leu1551=) c.4365C= (p.Leu1455=) c.1893C= (p.Leu631=) | |
19 | g.35729978C>G | CA507072449 | KMT2B | c.4863C>G (p.Leu1621=) c.2470C>G (n.2470C>G) c.147C>G (p.Leu49=) c.355C>G n.82C>G c.150C>G (p.Leu50=) c.4471C>G c.4929C>G (p.Leu1643=) c.2251C>G c.4653C>G (p.Leu1551=) c.4365C>G (p.Leu1455=) c.1893C>G (p.Leu631=) | gnomAD v4 |
19 | g.35729978C>T | CA507072451 | KMT2B | c.4863C>T (p.Leu1621=) c.2470C>T (n.2470C>T) c.147C>T (p.Leu49=) c.355C>T n.82C>T c.150C>T (p.Leu50=) c.4471C>T c.4929C>T (p.Leu1643=) c.2251C>T c.4653C>T (p.Leu1551=) c.4365C>T (p.Leu1455=) c.1893C>T (p.Leu631=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35729979T>A | CA405418692 | KMT2B | c.4864T>A (p.Cys1622Ser) c.2471T>A (n.2471T>A) c.148T>A (p.Cys50Ser) c.356T>A n.83T>A c.151T>A (p.Cys51Ser) c.4472T>A c.4930T>A (p.Cys1644Ser) c.2252T>A c.4654T>A (p.Cys1552Ser) c.4366T>A (p.Cys1456Ser) c.1894T>A (p.Cys632Ser) | |
19 | g.35729979T>C | CA405418694 | KMT2B | c.4864T>C (p.Cys1622Arg) c.2471T>C (n.2471T>C) c.148T>C (p.Cys50Arg) c.356T>C n.83T>C c.151T>C (p.Cys51Arg) c.4472T>C c.4930T>C (p.Cys1644Arg) c.2252T>C c.4654T>C (p.Cys1552Arg) c.4366T>C (p.Cys1456Arg) c.1894T>C (p.Cys632Arg) | |
19 | g.35729979T>G | CA405418696 | KMT2B | c.4864T>G (p.Cys1622Gly) c.2471T>G (n.2471T>G) c.148T>G (p.Cys50Gly) c.356T>G n.83T>G c.151T>G (p.Cys51Gly) c.4472T>G c.4930T>G (p.Cys1644Gly) c.2252T>G c.4654T>G (p.Cys1552Gly) c.4366T>G (p.Cys1456Gly) c.1894T>G (p.Cys632Gly) | |
19 | g.35729980G>A | CA405418699 | KMT2B | c.4865G>A (p.Cys1622Tyr) c.2472G>A (n.2472G>A) c.149G>A (p.Cys50Tyr) c.357G>A n.84G>A c.152G>A (p.Cys51Tyr) c.4473G>A c.4931G>A (p.Cys1644Tyr) c.2253G>A c.4655G>A (p.Cys1552Tyr) c.4367G>A (p.Cys1456Tyr) c.1895G>A (p.Cys632Tyr) | |
19 | g.35729980G>C | CA405418700 | KMT2B | c.4865G>C (p.Cys1622Ser) c.2472G>C (n.2472G>C) c.149G>C (p.Cys50Ser) c.357G>C n.84G>C c.152G>C (p.Cys51Ser) c.4473G>C c.4931G>C (p.Cys1644Ser) c.2253G>C c.4655G>C (p.Cys1552Ser) c.4367G>C (p.Cys1456Ser) c.1895G>C (p.Cys632Ser) | |
19 | g.35729980G= | CA2333793076 | KMT2B | c.4865G= (p.Cys1622=) c.2472G= (n.2472G=) c.149G= (p.Cys50=) c.357G= n.84G= c.152G= (p.Cys51=) c.4473G= c.4931G= (p.Cys1644=) c.2253G= c.4655G= (p.Cys1552=) c.4367G= (p.Cys1456=) c.1895G= (p.Cys632=) | |
19 | g.35729980G>T | CA405418702 | KMT2B | c.4865G>T (p.Cys1622Phe) c.2472G>T (n.2472G>T) c.149G>T (p.Cys50Phe) c.357G>T n.84G>T c.152G>T (p.Cys51Phe) c.4473G>T c.4931G>T (p.Cys1644Phe) c.2253G>T c.4655G>T (p.Cys1552Phe) c.4367G>T (p.Cys1456Phe) c.1895G>T (p.Cys632Phe) | ClinVar dbSNP |
19 | g.35729981C>A | CA405418704 | KMT2B | c.4866C>A (p.Cys1622Ter) c.2473C>A (n.2473C>A) c.150C>A (p.Cys50Ter) c.358C>A n.85C>A c.153C>A (p.Cys51Ter) c.4474C>A c.4932C>A (p.Cys1644Ter) c.2254C>A c.4656C>A (p.Cys1552Ter) c.4368C>A (p.Cys1456Ter) c.1896C>A (p.Cys632Ter) | |
19 | g.35729981C>G | CA405418706 | KMT2B | c.4866C>G (p.Cys1622Trp) c.2473C>G (n.2473C>G) c.150C>G (p.Cys50Trp) c.358C>G n.85C>G c.153C>G (p.Cys51Trp) c.4474C>G c.4932C>G (p.Cys1644Trp) c.2254C>G c.4656C>G (p.Cys1552Trp) c.4368C>G (p.Cys1456Trp) c.1896C>G (p.Cys632Trp) | |
19 | g.35729981C>T | CA507072458 | KMT2B | c.4866C>T (p.Cys1622=) c.2473C>T (n.2473C>T) c.150C>T (p.Cys50=) c.358C>T n.85C>T c.153C>T (p.Cys51=) c.4474C>T c.4932C>T (p.Cys1644=) c.2254C>T c.4656C>T (p.Cys1552=) c.4368C>T (p.Cys1456=) c.1896C>T (p.Cys632=) | |
19 | g.35729982C>A | CA405418708 | KMT2B | c.4867C>A (p.Leu1623Met) c.2474C>A (n.2474C>A) c.151C>A (p.Leu51Met) c.359C>A n.86C>A c.154C>A (p.Leu52Met) c.4475C>A c.4933C>A (p.Leu1645Met) c.2255C>A c.4657C>A (p.Leu1553Met) c.4369C>A (p.Leu1457Met) c.1897C>A (p.Leu633Met) | |
19 | g.35729982C>G | CA405418709 | KMT2B | c.4867C>G (p.Leu1623Val) c.2474C>G (n.2474C>G) c.151C>G (p.Leu51Val) c.359C>G n.86C>G c.154C>G (p.Leu52Val) c.4475C>G c.4933C>G (p.Leu1645Val) c.2255C>G c.4657C>G (p.Leu1553Val) c.4369C>G (p.Leu1457Val) c.1897C>G (p.Leu633Val) |