基因名 突变
VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) g.11:123989717C>G,c.681C>G,p.D227E
VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) g.11:123989383G>A,c.613G>A,p.E205K
VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) g.11:123989374A>G,c.604A>G,p.S202G
VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) g.11:123989278A>G,c.508A>G,p.I170V
VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) g.11:123988461A>T,c.125A>T,p.E42V
VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) g.11:123988252C>T,c.34C>T,p.R12W
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98928757C>T,c.3830C>T,p.T1277I
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98928494G>A,c.3734G>A,p.R1245K
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98928429C>G,c.3669C>G,p.D1223E
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98916568T>G,c.3309T>G,p.I1103M
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98914484C>T,c.3272C>T,p.P1091L
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98907070G>A,c.3142G>A,p.G1048S
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98872610G>A,c.2816G>A,p.R939Q
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98853173G>A,c.2653G>A,p.V885M
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98853147A>G,c.2627A>G,p.Y876C
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98853132C>T,c.2612C>T,p.P871L
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98852856T>C,c.2432T>C,p.M811T
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98844674C>G,c.2029C>G,p.L677V
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98809432T>C,c.1538T>C,p.I513T
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98804493C>T,c.1367C>T,p.P456L
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98797598G>A,c.1234G>A,p.D412N
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98779439G>T,c.1114G>T,p.E372X
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98779397G>A,c.1072G>A,p.V358M
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98779343G>A,c.1018G>A,p.V340I
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98750303G>A,c.889G>A,p.E297K
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98737884G>A,c.665G>A,p.R222H
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98737874G>T,c.655G>T,p.E219X
VWA3B(NM_144992,von Willebrand factor A domain containing 3B,1294aa) g.2:98736225C>T,c.541C>T,p.R181W
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