基因名 突变
KMT2E(NM_182931,lysine (K)-specific methyltransferase 2E,1858aa) g.7:104746112C>A,c.2423C>A,p.T808N
KMT2E(NM_182931,lysine (K)-specific methyltransferase 2E,1858aa) g.7:104742496T>C,c.2051T>C,p.I684T
KMT2E(NM_182931,lysine (K)-specific methyltransferase 2E,1858aa) g.7:104730484A>G,c.1387A>G,p.K463E
KMT2E(NM_182931,lysine (K)-specific methyltransferase 2E,1858aa) g.7:104717411G>A,c.770G>A,p.G257D
KMT2E(NM_182931,lysine (K)-specific methyltransferase 2E,1858aa) g.7:104702688C>T,c.149C>T,p.S50L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49448463C>T,c.248G>A,p.R83Q
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49448107A>C,c.493T>G,p.F165V
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49446171G>A,c.1295C>T,p.A432V
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49446040C>T,c.1426G>A,p.A476T
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49445427G>A,c.2039C>T,p.T680M
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49445392G>T,c.2074C>A,p.P692T
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49445310G>A,c.2156C>T,p.P719L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49445028G>A,c.2438C>T,p.P813L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49444957A>G,c.2509T>C,p.S837P
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49444810G>T,c.2656C>A,p.P886T
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49444376T>C,c.2995A>G,p.M999V
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49443799G>A,c.3572C>T,p.P1191L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49442902T>C,c.4006A>G,p.I1336V
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49438587G>A,c.4903C>T,p.L1635F
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49437499G>A,c.5386C>T,p.R1796W
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49434924G>A,c.6629C>T,p.P2210L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49434910A>T,c.6643T>A,p.S2215T
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49434652G>A,c.6901C>T,p.P2301S
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49434507G>A,c.7046C>T,p.P2349L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49434409G>A,c.7144C>T,p.P2382S
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49433883G>A,c.7670C>T,p.P2557L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49433857A>G,c.7696T>C,p.F2566L
KMT2D(NM_003482,lysine (K)-specific methyltransferase 2D,5537aa) g.12:49433848C>T,c.7705G>A,p.G2569S
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org