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 |