基因名 突变
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) g.6:31734293G>A,c.2131C>T,p.R711C
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) g.6:31733544G>A,c.2503C>T,p.R835W
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) g.6:31733543C>T,c.2504G>A,p.R835Q
VWA7(NM_025258,von Willebrand factor A domain containing 7,891aa) g.6:31733466T>C,c.2581A>G,p.T861A
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183958830G>A,c.2897G>A,p.G966E
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183957821C>T,c.2737C>T,p.R913W
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183957218C>T,c.2239C>T,p.H747Y
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183956588G>A,c.2129G>A,p.R710H
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183955056G>A,c.1576G>A,p.D526N
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183955017G>T,c.1537G>T,p.V513L
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183954203G>A,c.1285G>A,p.A429T
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183954036C>T,c.1198C>T,p.R400W
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183953044C>G,c.1049C>G,p.T350R
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183951431C>T,c.598C>T,p.P200S
VWA5B2(NM_138345,von Willebrand factor A domain containing 5B2,1242aa) g.3:183948663G>A,c.268G>A,p.G90S
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20680718G>A,c.3610G>A,p.E1204K
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20680437C>T,c.3329C>T,p.P1110L
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20680358C>T,c.3250C>T,p.R1084X
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20680289G>A,c.3181G>A,p.E1061K
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20680275C>A,c.3167C>A,p.A1056D
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20676700G>A,c.2930G>A,p.R977H
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20674843C>T,c.2870C>T,p.P957L
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20671961G>A,c.2639G>A,p.R880H
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20671958G>A,c.2636G>A,p.R879H
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20669053G>T,c.2262G>T,p.W754C
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20664310G>A,c.2114G>A,p.R705Q
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20664258C>T,c.2062C>T,p.R688W
VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) g.1:20662944C>A,c.1907C>A,p.A636D
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