| 基因名 | 突变 |
|---|---|
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32170009C>T,c.3599G>A,p.G1200E |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32169953G>A,c.3655C>T,p.R1219W |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32168996C>G,c.4037G>C,p.R1346P |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32166434_32166436del,c.4607_4609del,p.1536_1537del |
| NOTCH4(NM_004557,notch 4,2003aa) | g.6:32166273G>A,c.4681C>T,p.L1561F |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15303304C>T,c.224G>A,p.R75Q |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15302951G>A,c.499C>T,p.P167S |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15302941T>C,c.509A>G,p.H170R |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15302649C>T,c.709G>A,p.V237M |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15302421C>T,c.850G>A,p.A284T |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15299051G>A,c.1487C>T,p.P496L |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15299048G>A,c.1490C>T,p.S497L |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15298126G>A,c.1630C>T,p.R544C |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15298066C>T,c.1690G>A,p.A564T |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15297709A>T,c.1931T>A,p.V644D |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15296181C>T,c.2183G>A,p.R728H |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15296082G>A,c.2282C>T,p.P761L |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15292406G>C,c.2773C>G,p.L925V |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15291576C>G,c.3058G>C,p.A1020P |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15291062G>A,c.3148C>T,p.R1050W |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15290911C>T,c.3299G>A,p.R1100H |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15290236G>T,c.3399C>A,p.H1133Q |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15290031G>A,c.3523C>T,p.R1175W |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15290007C>T,c.3547G>A,p.V1183M |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15289985C>T,c.3569G>A,p.R1190H |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15289895C>T,c.3659G>A,p.R1220Q |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15289863G>A,c.3691C>T,p.R1231C |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15289850T>A,c.3704A>T,p.H1235L |