基因名 突变
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151970856T>A,c.946A>T,p.T316S
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151962265C>T,c.1042G>A,p.D348N
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151962168C>A,c.1139G>T,p.R380L
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151962134G>T,c.1173C>A,p.C391X
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151949770G>A,c.1330C>T,p.R444W
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151949735T>C,c.1365A>G,p.I455M
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151949698G>T,c.1402C>A,p.P468T
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151949068C>G,c.1577G>C,p.R526P
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151947971C>T,c.1702G>A,p.G568S
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945297A>G,c.2222T>C,p.M741T
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945256G>A,c.2263C>T,p.Q755X
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945228G>A,c.2291C>T,p.S764F
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945225T>C,c.2294A>G,p.E765G
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945204G>A,c.2315C>T,p.S772L
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945109G>C,c.2410C>G,p.L804V
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945071_151945072insT,c.2447_2448insA,p.816fs
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945060G>A,c.2459C>T,p.T820I
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945051A>G,c.2468T>C,p.I823T
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151945007C>T,c.2512G>A,p.G838S
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151935910C>T,c.2534G>A,p.G845E
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151935871C>A,c.2573G>T,p.W858L
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151935866G>A,c.2578C>T,p.P860S
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151935853T>C,c.2591A>G,p.E864G
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151935799A>G,c.2645T>C,p.I882T
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151933015G>A,c.2656C>T,p.R886C
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151932969A>G,c.2702T>C,p.L901P
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151932945C>T,c.2726G>A,p.R909K
KMT2C(NM_170606,lysine (K)-specific methyltransferase 2C,4911aa) g.7:151932916C>G,c.2755G>C,p.V919L
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