| 基因名 | 突变 |
|---|---|
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15288391C>T,c.4348G>A,p.A1450T |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15285063G>T,c.4552C>A,p.L1518M |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15285052T>C,c.4563A>G,p.P1521P |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15284976G>C,c.4639C>G,p.L1547V |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15284936C>G,c.4679G>C,p.R1560P |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15281580T>A,c.4793A>T,p.D1598V |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15278099C>T,c.5323G>A,p.A1775T |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15276755C>T,c.5510G>A,p.R1837H |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15276230C>A,c.5764G>T,p.V1922L |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15273335C>T,c.5854G>A,p.V1952M |
| NOTCH3(NM_000435,notch 3,2321aa) | g.19:15271771G>A,c.6668C>T,p.A2223V |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120611964G>C,c.57C>G,p.C19W |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120548173C>T,c.194G>A,p.R65Q |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120548152C>T,c.215G>A,p.R72H |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120548095C>A,c.272G>T,p.R91L |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120539661C>T,c.710G>A,p.R237Q |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120510194C>T,c.1315G>A,p.A439T |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120510113G>T,c.1396C>A,p.Q466K |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120497840A>T,c.2042T>A,p.I681N |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120484314G>A,c.2816C>T,p.P939L |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120479948T>C,c.3479A>G,p.H1160R |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120478185C>T,c.3565G>A,p.D1189N |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120478125A>C,c.3625T>G,p.F1209V |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120471712C>T,c.3779G>A,p.R1260H |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120469147T>C,c.3980A>G,p.D1327G |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120468211G>A,c.4228C>T,p.R1410C |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120468201A>T,c.4238T>A,p.L1413H |
| NOTCH2(NM_024408,notch 2,2471aa) | g.1:120465262C>T,c.4999G>A,p.V1667I |