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
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