| 基因名 | 突变 |
|---|---|
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20662938A>G,c.1901A>G,p.K634R |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20662871G>A,c.1834G>A,p.G612R |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20659392_20659393insG,c.1706_1707insG,p.569fs |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20659319A>G,c.1633A>G,p.I545V |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20657463G>A,c.1559G>A,p.R520Q |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20657421C>G,c.1517C>G,p.S506C |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20656824A>G,c.1406A>G,p.N469S |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20649979T>C,c.1097T>C,p.I366T |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20645115G>A,c.742G>A,p.D248N |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20645086T>A,c.713T>A,p.V238E |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20644156T>C,c.697T>C,p.C233R |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20644130A>C,c.671A>C,p.N224T |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20641002G>T,c.480G>T,p.R160S |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20640980C>T,c.458C>T,p.T153M |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20640926T>C,c.404T>C,p.I135T |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20639464G>A,c.275G>A,p.R92Q |
| VWA5B1(NM_001039500,von Willebrand factor A domain containing 5B1,1215aa) | g.1:20639362C>T,c.173C>T,p.T58M |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124016059G>A,c.2270G>A,p.R757H |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124016058C>T,c.2269C>T,p.R757C |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124016046G>A,c.2257G>A,p.V753M |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124016024G>A,c.2235G>A,p.W745X |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124007940G>A,c.1844G>A,p.G615D |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124007930A>G,c.1834A>G,p.I612V |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124007925G>A,c.1829G>A,p.R610K |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124006993G>A,c.1517G>A,p.R506K |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124006986A>G,c.1510A>G,p.T504A |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:124006972G>T,c.1496G>T,p.S499I |
| VWA5A(NM_001130142,von Willebrand factor A domain containing 5A,786aa) | g.11:123994434G>A,c.1087G>A,p.D363N |