| 基因名 | 突变 |
|---|---|
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35946626G>A,c.272C>T,p.A91V |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35944801C>T,c.544G>A,p.D182N |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35937637T>C,c.664A>G,p.T222A |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35932057T>C,c.931A>G,p.M311V |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35930981C>A,c.1102G>T,p.G368C |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35928962T>C,c.1412A>G,p.D471G |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35913721T>C,c.2104A>G,p.I702V |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35913667T>A,c.2158A>T,p.S720C |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35913589C>T,c.2236G>A,p.D746N |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35913459G>A,c.2366C>T,p.S789L |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35902517G>A,c.2759C>T,p.P920L |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35902503T>C,c.2773A>G,p.I925V |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35902433G>A,c.2843C>T,p.T948M |
| SYNRG(NM_007247,synergin, gamma,1314aa) | g.17:35902268G>A,c.3008C>T,p.T1003M |
| SYNPR(NM_144642,synaptoporin,265aa) | g.3:63601065A>C,c.706A>C,p.S236R |
| SYNPR(NM_144642,synaptoporin,265aa) | g.3:63542364G>A,c.295G>A,p.V99I |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150036390C>T,c.2453C>T,p.A818V |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150036119A>G,c.2182A>G,p.M728V |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150029503C>T,c.1666C>T,p.R556C |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150029171C>T,c.1334C>T,p.A445V |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150029071G>C,c.1234G>C,p.G412R |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150028651C>T,c.814C>T,p.P272S |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150028577C>T,c.740C>T,p.A247V |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150028408T>A,c.571T>A,p.S191T |
| SYNPO(NM_007286,synaptopodin,903aa) | g.5:150028274C>T,c.437C>T,p.P146L |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119953186T>C,c.3256T>C,p.W1086R |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119952955C>T,c.3025C>T,p.R1009W |
| SYNPO2(NM_001128933,synaptopodin 2,1093aa) | g.4:119952878A>G,c.2948A>G,p.D983G |