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 |