基因名 |
突变 |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42259318C>G,c.4192G>C,p.D1398H |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42259195T>G,c.4315A>C,p.I1439L |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42259191T>A,c.4319A>T,p.Y1440F |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42245144G>A,c.4549C>T,p.R1517C |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42245120A>G,c.4573T>C,p.W1525R |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42189142C>T,c.4690G>A,p.V1564M |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42185868C>G,c.4721G>C,p.G1574A |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42179327G>A,c.4963C>T,p.R1655X |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42164859C>T,c.5029G>A,p.G1677R |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42161779G>A,c.5140C>T,p.R1714C |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42144694T>G,c.5519A>C,p.H1840P |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42142343G>A,c.5708C>T,p.S1903L |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31743962G>A,c.292C>T,p.R98W |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31743961C>T,c.293G>A,p.R98Q |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31743844C>T,c.410G>A,p.R137H |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31743842C>T,c.412G>A,p.A138T |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31743839G>A,c.415C>T,p.R139C |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31743770G>A,c.484C>T,p.R162C |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31742367C>T,c.647G>A,p.S216N |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31741049C>A,c.887G>T,p.R296L |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31740763_31740764insCAGGCTCCATGGGG,c.1054_1055insCCCCATGGAGCCTG,p.352fs |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31740760_31740761insGGACAGGCTCCATG,c.1057_1058insCATGGAGCCTGTCC,p.353fs |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31737819C>G,c.1159G>C,p.G387R |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31737818C>G,c.1160G>C,p.G387A |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31736835C>T,c.1463G>A,p.R488Q |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31734401C>T,c.2023G>A,p.V675M |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31734385C>T,c.2039G>A,p.R680Q |
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) |
g.6:31734313C>A,c.2111G>T,p.G704V |