| 基因名 | 突变 |
|---|---|
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95759036G>A,c.524C>T,p.T175M |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95751785T>C,c.661A>G,p.N221D |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95751742A>G,c.704T>C,p.V235A |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95735700C>T,c.1387G>A,p.E463K |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95729049T>C,c.1918A>G,p.T640A |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95728974G>C,c.1993C>G,p.Q665E |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95728898C>G,c.2069G>C,p.S690T |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95728863C>T,c.2104G>A,p.E702K |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95728749G>A,c.2218C>T,p.R740W |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95728748C>T,c.2219G>A,p.R740Q |
| PCP4L1(NM_001102566,Purkinje cell protein 4 like 1,68aa) | g.1:161254246A>G,c.182A>G,p.K61R |
| PCP2(NM_174895,Purkinje cell protein 2,136aa) | g.19:7697662C>T,c.106G>A,p.D36N |
| PCP2(NM_174895,Purkinje cell protein 2,136aa) | g.19:7697365T>C,c.205A>G,p.M69V |
| PCP2(NM_174895,Purkinje cell protein 2,136aa) | g.19:7697343C>T,c.227G>A,p.R76H |
| PCP2(NM_174895,Purkinje cell protein 2,136aa) | g.19:7697290C>T,c.280G>A,p.V94M |
| PCP2(NM_174895,Purkinje cell protein 2,136aa) | g.19:7696655G>T,c.331C>A,p.P111T |
| PCP2(NM_174895,Purkinje cell protein 2,136aa) | g.19:7696591G>A,c.395C>T,p.P132L |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100205706G>C,c.1330G>C,p.A444P |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100205703C>T,c.1327C>T,p.R443W |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100205641G>A,c.1265G>A,p.R422Q |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100205269C>T,c.1022C>T,p.A341V |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100205102G>A,c.968G>A,p.R323H |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100201149C>G,c.192C>G,p.I64M |
| PCOLCE(NM_002593,procollagen C-endopeptidase enhancer,449aa) | g.7:100200130C>G,c.51C>G,p.C17W |
| PCOLCE2(NM_013363,procollagen C-endopeptidase enhancer 2,415aa) | g.3:142606602C>A,c.101G>T,p.G34V |
| PCOLCE2(NM_013363,procollagen C-endopeptidase enhancer 2,415aa) | g.3:142567281G>A,c.226C>T,p.R76X |
| PCOLCE2(NM_013363,procollagen C-endopeptidase enhancer 2,415aa) | g.3:142567275T>A,c.232A>T,p.I78L |
| PCOLCE2(NM_013363,procollagen C-endopeptidase enhancer 2,415aa) | g.3:142567175C>T,c.332G>A,p.R111Q |