| 基因名 | 突变 |
|---|---|
| PLEC(NM_201380,plectin,4684aa) | g.8:144993068C>T,c.11332G>A,p.D3778N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144993055C>T,c.11345G>A,p.R3782H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992923G>A,c.11477C>T,p.T3826M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992912C>T,c.11488G>A,p.A3830T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992782G>A,c.11618C>T,p.P3873L |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992701G>A,c.11699C>T,p.S3900L |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992395C>T,c.12005G>A,p.R4002H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992392C>T,c.12008G>A,p.R4003H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992378C>T,c.12022G>A,p.G4008S |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992347C>T,c.12053G>A,p.R4018H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992269G>A,c.12131C>T,p.T4044M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144992161G>T,c.12239C>A,p.T4080N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991925G>A,c.12475C>T,p.L4159F |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991799C>T,c.12601G>A,p.E4201K |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991745C>T,c.12655G>A,p.D4219N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991669C>T,c.12731G>A,p.R4244H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991591T>C,c.12809A>G,p.K4270R |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991342C>T,c.13058G>A,p.R4353H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991208C>T,c.13192G>A,p.A4398T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144991205C>T,c.13195G>A,p.V4399I |
| PLEC(NM_201380,plectin,4684aa) | g.8:144990784G>A,c.13616C>T,p.T4539M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144990742G>A,c.13658C>T,p.T4553M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144990415G>A,c.13985C>T,p.S4662L |
| PLD6(NM_178836,phospholipase D family, member 6,252aa) | g.17:17106395C>G,c.445G>C,p.D149H |
| PLD6(NM_178836,phospholipase D family, member 6,252aa) | g.17:17106148G>A,c.692C>T,p.S231F |
| PLD5(NM_152666,phospholipase D family, member 5,536aa) | g.1:242428735C>G,c.511G>C,p.E171Q |
| PLD5(NM_152666,phospholipase D family, member 5,536aa) | g.1:242264047G>A,c.1277C>T,p.T426I |
| PLD5(NM_152666,phospholipase D family, member 5,536aa) | g.1:242253179C>T,c.1588G>A,p.G530R |