| 基因名 | 突变 |
|---|---|
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120465007T>A,c.5065A>T,p.I1689F |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120462159C>G,c.5557G>C,p.D1853H |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120462032C>T,c.5684G>A,p.R1895H |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120461092C>T,c.5866G>A,p.V1956M |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120459251G>T,c.6094C>A,p.H2032N |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120459206G>A,c.6139C>T,p.R2047W |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120459122C>T,c.6223G>A,p.V2075M |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120459050T>C,c.6295A>G,p.M2099V |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120459032G>A,c.6313C>T,p.R2105W |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120458978C>T,c.6367G>A,p.A2123T |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120458452C>T,c.6893G>A,p.R2298Q |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120458270G>C,c.7075C>G,p.P2359A |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120458122A>T,c.7223T>A,p.L2408H |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145281656A>T,c.586A>T,p.T196S |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145281633C>A,c.563C>A,p.P188H |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145281617T>C,c.547T>C,p.Y183H |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145281613C>A,c.543C>A,p.S181R |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145281543C>T,c.473C>T,p.T158I |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145281408C>T,c.338C>T,p.P113L |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145273366C>T,c.220C>T,p.R74X |
| NOTCH2NL(NM_203458,notch 2 N-terminal like,236aa) | g.1:145273345T>C,c.199T>C,p.S67P |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139438552G>A,c.64C>T,p.P22S |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139418261T>C,c.311A>G,p.N104S |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139417517C>T,c.527G>A,p.R176Q |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139417343C>T,c.701G>A,p.R234H |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139410139T>C,c.1699A>G,p.I567V |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139409089C>T,c.2080G>A,p.E694K |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139409083C>T,c.2086G>A,p.G696S |