| 基因名 | 突变 |
|---|---|
| PLEC(NM_201380,plectin,4684aa) | g.8:144998302G>A,c.6206C>T,p.A2069V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998234C>T,c.6274G>A,p.A2092T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998218C>T,c.6290G>A,p.R2097H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998152C>T,c.6356G>A,p.R2119Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998132G>A,c.6376C>T,p.R2126C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998129C>T,c.6379G>A,p.V2127M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998119C>A,c.6389G>T,p.S2130I |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998087G>A,c.6421C>T,p.R2141W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998060G>A,c.6448C>T,p.R2150W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998059C>T,c.6449G>A,p.R2150Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998038T>G,c.6470A>C,p.E2157A |
| PLEC(NM_201380,plectin,4684aa) | g.8:144998035G>A,c.6473C>T,p.A2158V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997927G>A,c.6581C>T,p.A2194V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997786G>A,c.6722C>T,p.A2241V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997783G>A,c.6725C>T,p.A2242V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997771C>T,c.6737G>A,p.R2246Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997673C>T,c.6835G>A,p.A2279T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997657G>A,c.6851C>T,p.A2284V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997654C>T,c.6854G>A,p.R2285Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997633G>A,c.6875C>T,p.A2292V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997561C>T,c.6947G>A,p.R2316Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997430G>A,c.7078C>T,p.R2360C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997340C>T,c.7168G>A,p.A2390T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997307G>A,c.7201C>T,p.R2401C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997306C>T,c.7202G>A,p.R2401H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144997253G>A,c.7255C>T,p.R2419W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996976C>T,c.7532G>A,p.R2511Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996946C>T,c.7562G>A,p.R2521H |