基因名 突变
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6167131G>A,c.1613C>T,p.P538L
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6167016C>A,c.1728G>T,p.M576I
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6166076G>A,c.1892C>T,p.A631V
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6166046G>A,c.1922C>T,p.A641V
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6161871G>A,c.2024C>T,p.P675L
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6161823del,c.2072del,p.691fs
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6155950C>T,c.2220G>A,p.M740I
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6153591G>A,c.2308C>T,p.P770S
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6153534T>C,c.2365A>G,p.T789A
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6153464G>A,c.2435C>T,p.P812L
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6153464del,c.2435del,p.812fs
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6145654G>A,c.2446C>T,p.R816W
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6145649A>T,c.2451T>A,p.H817Q
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6143984T>C,c.2555A>G,p.Q852R
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6143978C>T,c.2561G>A,p.R854Q
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6140735C>T,c.2695G>A,p.G899S
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6140659C>T,c.2771G>A,p.R924Q
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6135091T>C,c.3089A>G,p.Q1030R
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6132895A>G,c.3281T>C,p.I1094T
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6132811G>A,c.3365C>T,p.T1122M
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128898A>C,c.3686T>G,p.V1229G
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128892T>G,c.3692A>C,p.N1231T
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128892T>C,c.3692A>G,p.N1231S
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128865G>A,c.3719C>T,p.P1240L
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128787G>T,c.3797C>A,p.P1266Q
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128749C>T,c.3835G>A,p.V1279I
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128661C>T,c.3923G>A,p.R1308H
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6128659T>C,c.3925A>G,p.I1309V
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