| 基因名 | 突变 |
|---|---|
| PNKP(NM_007254,polynucleotide kinase 3'-phosphatase,521aa) | g.19:50364721A>C,c.1433T>G,p.V478G |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219209676G>A,c.1130G>A,p.R377Q |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219209649G>A,c.1103G>A,p.R368Q |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219209282C>T,c.973C>T,p.R325C |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219209268G>A,c.959G>A,p.R320Q |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219209196A>G,c.887A>G,p.E296G |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219206292G>A,c.560G>A,p.R187Q |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219206265G>A,c.533G>A,p.S178N |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219204854G>A,c.455G>A,p.R152Q |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219204600A>G,c.331A>G,p.T111A |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219204523G>A,c.254G>A,p.R85H |
| PNKD(NM_015488,paroxysmal nonkinesigenic dyskinesia,385aa) | g.2:219136133G>C,c.97G>C,p.A33P |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99862498G>A,c.38C>T,p.P13L |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99858828T>C,c.290A>G,p.H97R |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99858695T>C,c.423A>G,p.I141M |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99852493C>T,c.1088G>A,p.R363H |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99849125C>T,c.1709G>A,p.R570H |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99849014C>T,c.1820G>A,p.R607Q |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99848778G>A,c.2056C>T,p.R686C |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99848777C>T,c.2057G>A,p.R686H |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99848777C>G,c.2057G>C,p.R686P |
| PNISR(NM_032870,PNN-interacting serine/arginine-rich protein,805aa) | g.6:99848591C>T,c.2243G>A,p.S748N |
| PNCK(NM_001039582,pregnancy up-regulated non-ubiquitously expressed CaM kinase,426aa) | g.X:152939483C>G,c.148G>C,p.G50R |
| PNCK(NM_001039582,pregnancy up-regulated non-ubiquitously expressed CaM kinase,426aa) | g.X:152937447C>T,c.551G>A,p.R184H |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154901525A>G,c.287T>C,p.V96A |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154898943C>T,c.329G>A,p.R110Q |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154898917G>A,c.355C>T,p.R119W |
| PMVK(NM_006556,phosphomevalonate kinase,192aa) | g.1:154898899C>T,c.373G>A,p.V125M |