基因名 |
突变 |
VWC2(NM_198570,von Willebrand factor C domain containing 2,325aa) |
g.7:49951764G>C,c.961G>C,p.E321Q |
VWC2(NM_198570,von Willebrand factor C domain containing 2,325aa) |
g.7:49951653G>A,c.850G>A,p.A284T |
VWC2(NM_198570,von Willebrand factor C domain containing 2,325aa) |
g.7:49842377A>C,c.767A>C,p.Q256P |
VWC2(NM_198570,von Willebrand factor C domain containing 2,325aa) |
g.7:49815474C>T,c.443C>T,p.P148L |
VWC2(NM_198570,von Willebrand factor C domain containing 2,325aa) |
g.7:49815390C>G,c.359C>G,p.A120G |
VWC2(NM_198570,von Willebrand factor C domain containing 2,325aa) |
g.7:49815304C>A,c.273C>A,p.S91R |
VWC2L(NM_001080500,von Willebrand factor C domain containing protein 2-like,222aa) |
g.2:215278935T>A,c.18T>A,p.H6Q |
VWA9(NM_001207058,von Willebrand factor A domain containing 9,500aa) |
g.15:65883983T>C,c.1019A>G,p.E340G |
VWA9(NM_001207058,von Willebrand factor A domain containing 9,500aa) |
g.15:65871970G>C,c.1279C>G,p.L427V |
VWA9(NM_001207058,von Willebrand factor A domain containing 9,500aa) |
g.15:65871828C>G,c.1421G>C,p.G474A |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42486197G>A,c.349C>T,p.R117C |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42481751G>A,c.454C>T,p.R152C |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42465713C>T,c.494G>A,p.R165H |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42457594T>C,c.1009A>G,p.I337V |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42442588C>G,c.1106G>C,p.S369T |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42442546A>G,c.1148T>C,p.M383T |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42442510C>T,c.1184G>A,p.R395Q |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42439886T>C,c.1411A>G,p.I471V |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42404710C>T,c.1655G>A,p.R552H |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42385446T>C,c.1978A>G,p.R660G |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42385421C>T,c.2003G>A,p.R668Q |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42352171T>C,c.2299A>G,p.M767V |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42303746G>A,c.2570C>T,p.T857M |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42301395C>T,c.2693G>A,p.R898K |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42273253G>A,c.3518C>T,p.P1173L |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42267071G>A,c.3602C>T,p.A1201V |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42264380C>T,c.3898G>A,p.E1300K |
VWA8(NM_015058,von Willebrand factor A domain containing 8,1905aa) |
g.13:42264331G>A,c.3947C>T,p.P1316L |