| 基因名 | 突变 |
|---|---|
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139407506C>T,c.2434G>A,p.G812R |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139405670C>T,c.2521G>A,p.G841S |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139405649C>T,c.2542G>A,p.E848K |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139405111G>A,c.2734C>T,p.R912W |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139403482G>A,c.3011C>T,p.S1004L |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139402543G>A,c.3374C>T,p.A1125V |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139402516T>C,c.3401A>G,p.Q1134R |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139401233C>T,c.3836G>A,p.R1279H |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139400219G>A,c.4129C>T,p.P1377S |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139399320C>T,c.4823G>A,p.R1608H |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139399132C>T,c.5011G>A,p.V1671I |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139395162G>A,c.5776C>T,p.R1926C |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139391794G>A,c.6397C>T,p.P2133S |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139391464C>T,c.6727G>A,p.G2243S |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139391403C>T,c.6788G>A,p.R2263Q |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139391338C>T,c.6853G>A,p.V2285I |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139390878G>A,c.7313C>T,p.P2438L |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139390822G>C,c.7369C>G,p.L2457V |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139390585C>T,c.7606G>A,p.V2536I |
| NOTCH1(NM_017617,notch 1,2555aa) | g.9:139390546G>A,c.7645C>T,p.R2549C |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169721377G>A,c.1589G>A,p.G530E |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169717335C>T,c.1381C>T,p.R461W |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169707633T>C,c.841T>C,p.C281R |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169707506T>C,c.791T>C,p.V264A |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169707455T>C,c.740T>C,p.L247P |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169707428C>T,c.713C>T,p.T238I |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169668122G>A,c.73G>A,p.E25K |
| NOSTRIN(NM_001171631,nitric oxide synthase trafficking,563aa) | g.2:169659182C>T,c.26C>T,p.P9L |