| 基因名 | 突变 |
|---|---|
| SVIL(NM_021738,supervillin,2214aa) | g.10:29770551A>G,c.5062T>C,p.S1688P |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29769705G>A,c.5138C>T,p.T1713I |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29769658C>T,c.5185G>A,p.G1729R |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29769649C>T,c.5194G>A,p.V1732I |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29769589C>T,c.5254G>A,p.V1752I |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29754644T>C,c.6013A>G,p.I2005V |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29754623C>T,c.6034G>A,p.D2012N |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29754535G>A,c.6122C>T,p.A2041V |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29752498T>G,c.6200A>C,p.K2067T |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29752459C>T,c.6239G>A,p.R2080Q |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113312231G>C,c.685C>G,p.R229G |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113276356C>G,c.995G>C,p.G332A |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113276278T>C,c.1073A>G,p.E358G |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113276251C>T,c.1100G>A,p.R367K |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113275241T>C,c.1268A>G,p.N423S |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113275227C>T,c.1282G>A,p.G428S |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113261483C>T,c.1519G>A,p.V507I |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113259165G>C,c.1730C>G,p.T577S |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113259152T>G,c.1743A>C,p.Q581H |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113259141T>C,c.1754A>G,p.N585S |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113252047C>A,c.1813G>T,p.V605F |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113252011T>C,c.1849A>G,p.I617V |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113251951T>C,c.1909A>G,p.I637V |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113244732G>T,c.2079C>A,p.D693E |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113244655T>C,c.2156A>G,p.H719R |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113243677T>G,c.2210A>C,p.D737A |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113241931G>A,c.2471C>T,p.T824M |
| SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) | g.9:113234507T>C,c.2696A>G,p.K899R |