基因名 突变
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6078424A>T,c.7682T>A,p.F2561Y
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6062708G>A,c.7940C>T,p.T2647M
VWF(NM_000552,von Willebrand factor,2813aa) g.12:6061559C>T,c.8113G>A,p.G2705R
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12433390G>A,c.73C>T,p.P25S
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12433347C>T,c.116G>A,p.R39H
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12433330G>A,c.133C>T,p.L45F
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12433252T>C,c.211A>G,p.R71G
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12428803G>A,c.425C>T,p.S142F
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12428758G>C,c.470C>G,p.A157G
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12420269G>C,c.632C>G,p.S211C
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12419108A>T,c.874T>A,p.F292I
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12417407C>T,c.1019G>A,p.G340D
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12414725G>A,c.1153C>T,p.R385X
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12414660G>C,c.1218C>G,p.N406K
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12410112G>A,c.1820C>T,p.S607F
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12410047T>G,c.1885A>C,p.T629P
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12410040G>A,c.1892C>T,p.A631V
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409924C>T,c.2008G>A,p.E670K
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409882G>A,c.2050C>T,p.H684Y
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409826T>C,c.2106A>G,p.I702M
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409522A>G,c.2410T>C,p.Y804H
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409327C>T,c.2605G>A,p.E869K
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409263C>A,c.2669G>T,p.C890F
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409209G>A,c.2723C>T,p.S908F
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12409197C>G,c.2735G>C,p.S912T
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12406989C>G,c.2892G>C,p.K964N
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12401021C>T,c.3025G>A,p.G1009R
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12400854G>C,c.3078C>G,p.F1026L
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