| 基因名 | 突变 |
|---|---|
| PACSIN1(NM_020804,protein kinase C and casein kinase substrate in neurons 1,444aa) | g.6:34499387T>C,c.1048T>C,p.Y350H |
| PACSIN1(NM_020804,protein kinase C and casein kinase substrate in neurons 1,444aa) | g.6:34498328C>T,c.1001C>T,p.A334V |
| PACSIN1(NM_020804,protein kinase C and casein kinase substrate in neurons 1,444aa) | g.6:34496509A>G,c.311A>G,p.N104S |
| PACSIN1(NM_020804,protein kinase C and casein kinase substrate in neurons 1,444aa) | g.6:34495239A>G,c.194A>G,p.K65R |
| PACSIN1(NM_020804,protein kinase C and casein kinase substrate in neurons 1,444aa) | g.6:34495134A>G,c.89A>G,p.K30R |
| PACS2(NM_001100913,phosphofurin acidic cluster sorting protein 2,904aa) | g.14:105858961G>T,c.2261G>T,p.G754V |
| PACS2(NM_001100913,phosphofurin acidic cluster sorting protein 2,904aa) | g.14:105858022C>T,c.2174C>T,p.P725L |
| PACS2(NM_001100913,phosphofurin acidic cluster sorting protein 2,904aa) | g.14:105833679A>G,c.553A>G,p.T185A |
| PACS2(NM_001100913,phosphofurin acidic cluster sorting protein 2,904aa) | g.14:105833623C>T,c.497C>T,p.A166V |
| PACS2(NM_001100913,phosphofurin acidic cluster sorting protein 2,904aa) | g.14:105814891T>G,c.181T>G,p.S61A |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:66006732G>A,c.2413G>A,p.A805T |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:66006615G>A,c.2296G>A,p.D766N |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:66002865G>A,c.2198G>A,p.R733Q |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:66002823C>T,c.2156C>T,p.T719M |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:66001633C>T,c.2024C>T,p.S675L |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:65961030G>A,c.430G>A,p.A144T |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:65960985G>A,c.385G>A,p.V129I |
| PACS1(NM_018026,phosphofurin acidic cluster sorting protein 1,963aa) | g.11:65838061A>C,c.104A>C,p.Q35P |
| PACRG(NM_152410,PARK2 co-regulated,296aa) | g.6:163735945C>T,c.817C>T,p.R273C |
| PACRG(NM_152410,PARK2 co-regulated,296aa) | g.6:163735907T>C,c.779T>C,p.I260T |
| PACRG(NM_152410,PARK2 co-regulated,296aa) | g.6:163735873G>A,c.745G>A,p.G249S |
| PACRG(NM_152410,PARK2 co-regulated,296aa) | g.6:163733858C>T,c.661C>T,p.R221C |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20726479G>A,c.658G>A,p.A220T |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20715151C>G,c.598C>G,p.L200V |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20715115G>A,c.562G>A,p.V188I |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20715062C>T,c.509C>T,p.S170L |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20714522A>C,c.478A>C,p.I160L |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20711349C>T,c.319C>T,p.P107S |