基因名 突变
THBD(NM_000361,thrombomodulin,575aa) g.20:23030015C>T,c.127G>A,p.A43T
THBD(NM_000361,thrombomodulin,575aa) g.20:23029459G>A,c.683C>T,p.P228L
THBD(NM_000361,thrombomodulin,575aa) g.20:23029244G>T,c.898C>A,p.P300T
THBD(NM_000361,thrombomodulin,575aa) g.20:23028934C>T,c.1208G>A,p.R403K
THBD(NM_000361,thrombomodulin,575aa) g.20:23028724G>A,c.1418C>T,p.A473V
THBD(NM_000361,thrombomodulin,575aa) g.20:23028686C>A,c.1456G>T,p.D486Y
THBD(NM_000361,thrombomodulin,575aa) g.20:23028659G>A,c.1483C>T,p.P495S
THBD(NM_000361,thrombomodulin,575aa) g.20:23028640G>A,c.1502C>T,p.P501L
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839862G>A,c.2497G>A,p.V833I
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839842T>G,c.2477T>G,p.V826G
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839836G>C,c.2471G>C,p.G824A
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839799A>G,c.2434A>G,p.N812D
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839764A>G,c.2399A>G,p.Q800R
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839662A>G,c.2297A>G,p.E766G
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839392G>A,c.2027G>A,p.R676H
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839352A>G,c.1987A>G,p.I663V
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83839328A>C,c.1963A>C,p.K655Q
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83838769G>T,c.1404G>T,p.L468F
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83838420A>C,c.1055A>C,p.Q352P
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83838339T>C,c.974T>C,p.M325T
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83838262G>T,c.897G>T,p.L299F
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83838217G>A,c.852G>A,p.M284I
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83828955T>C,c.598T>C,p.Y200H
THAP9(NM_024672,THAP domain containing 9,903aa) g.4:83827766G>A,c.566G>A,p.R189Q
THAP8(NM_152658,THAP domain containing 8,274aa) g.19:36545036C>T,c.83+1G>A,p.28Donor
THAP8(NM_152658,THAP domain containing 8,274aa) g.19:36530913C>T,c.209G>A,p.R70H
THAP8(NM_152658,THAP domain containing 8,274aa) g.19:36530605G>A,c.292C>T,p.R98X
THAP8(NM_152658,THAP domain containing 8,274aa) g.19:36530562T>C,c.335A>G,p.K112R
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