| 基因名 | 突变 |
|---|---|
| PMPCA(NM_015160,peptidase (mitochondrial processing) alpha,525aa) | g.9:139305140C>A,c.20C>A,p.A7E |
| PMPCA(NM_015160,peptidase (mitochondrial processing) alpha,525aa) | g.9:139305131T>A,c.11T>A,p.V4E |
| PMP2(NM_002677,peripheral myelin protein 2,132aa) | g.8:82357149A>G,c.149T>C,p.I50T |
| PMP2(NM_002677,peripheral myelin protein 2,132aa) | g.8:82355679C>T,c.353G>A,p.C118Y |
| PMP2(NM_002677,peripheral myelin protein 2,132aa) | g.8:82355667C>T,c.365G>A,p.G122D |
| PMP22(NM_000304,peripheral myelin protein 22,160aa) | g.17:15134364G>A,c.353C>T,p.T118M |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8906958A>G,c.634A>G,p.M212V |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8906914A>C,c.590A>C,p.E197A |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8905555C>G,c.508C>G,p.L170V |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8905018T>C,c.430T>C,p.F144L |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8905010G>A,c.422G>A,p.R141H |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8904983T>C,c.395T>C,p.I132T |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8895699A>T,c.110A>T,p.Q37L |
| PMM2(NM_000303,phosphomannomutase 2,246aa) | g.16:8895679C>G,c.90C>G,p.D30E |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41985797C>A,c.13G>T,p.A5S |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41980285C>T,c.374G>A,p.R125H |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41980043G>A,c.394C>T,p.R132W |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41979974C>T,c.463G>A,p.E155K |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41973390C>T,c.721G>A,p.V241M |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41973374G>A,c.737C>T,p.T246M |
| PMM1(NM_002676,phosphomannomutase 1,262aa) | g.22:41973357C>T,c.754G>A,p.E252K |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337282G>A,c.2582G>A,p.R861Q |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337281C>T,c.2581C>T,p.R861W |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337273C>T,c.2573C>T,p.A858V |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337218G>T,c.2518G>T,p.A840S |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337209G>A,c.2509G>A,p.A837T |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337141G>A,c.2441G>A,p.R814H |
| PML(NM_033238,promyelocytic leukemia,882aa) | g.15:74337087G>A,c.2387G>A,p.R796H |