| 基因名 | 突变 |
|---|---|
| DERA(NM_015954,deoxyribose-phosphate aldolase (putative),318aa) | g.12:16109924C>T,c.86C>T,p.A29V |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:121061929G>A,c.1216G>A,p.E406K |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:121061879G>A,c.1166G>A,p.S389N |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:121061823G>C,c.1110G>C,p.Q370H |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:121013854A>G,c.695A>G,p.N232S |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:121013770A>G,c.611A>G,p.N204S |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:120977621G>A,c.575G>A,p.R192Q |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:120977542A>G,c.496A>G,p.M166V |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:120977489A>G,c.443A>G,p.N148S |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:120940768C>T,c.251C>T,p.T84M |
| DEPTOR(NM_022783,DEP domain containing MTOR-interacting protein,409aa) | g.8:120940657A>G,c.140A>G,p.E47G |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33054958A>G,c.1466A>G,p.Y489C |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33054856C>T,c.1364C>T,p.T455I |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33054850A>G,c.1358A>G,p.N453S |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33054503T>G,c.1305T>G,p.N435K |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33053036A>G,c.868A>G,p.K290E |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33049341G>A,c.547G>A,p.A183T |
| DEPDC7(NM_139160,DEP domain containing 7,502aa) | g.11:33047433C>T,c.275C>T,p.A92V |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32266603A>G,c.3358A>G,p.M1120V |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32257400C>T,c.3311C>T,p.S1104L |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32242890C>A,c.3092C>A,p.P1031H |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32229931C>T,c.2135C>T,p.S712F |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32218727C>A,c.2055C>A,p.F685L |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32218692C>T,c.2020C>T,p.R674C |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32217539C>T,c.1922C>T,p.A641V |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32211057C>T,c.1525C>T,p.R509C |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32211004G>C,c.1472G>C,p.S491T |
| DEPDC5(NM_001242896,DEP domain containing 5,1603aa) | g.22:32206512G>A,c.1330G>A,p.G444R |