| 基因名 | 突变 |
|---|---|
| NEIL2(NM_145043,nei endonuclease VIII-like 2 (E. coli),332aa) | g.8:11637335C>A,c.367C>A,p.P123T |
| NEIL2(NM_145043,nei endonuclease VIII-like 2 (E. coli),332aa) | g.8:11637276G>A,c.308G>A,p.R103Q |
| NEIL2(NM_145043,nei endonuclease VIII-like 2 (E. coli),332aa) | g.8:11629059G>A,c.103G>A,p.A35T |
| NEIL2(NM_145043,nei endonuclease VIII-like 2 (E. coli),332aa) | g.8:11629033G>C,c.77G>C,p.G26A |
| NEIL1(NM_024608,nei endonuclease VIII-like 1 (E. coli),390aa) | g.15:75647024A>G,c.967A>G,p.R323G |
| NEIL1(NM_024608,nei endonuclease VIII-like 1 (E. coli),390aa) | g.15:75646194C>T,c.833C>T,p.T278I |
| NEIL1(NM_024608,nei endonuclease VIII-like 1 (E. coli),390aa) | g.15:75646094G>A,c.733G>A,p.G245R |
| NEIL1(NM_024608,nei endonuclease VIII-like 1 (E. coli),390aa) | g.15:75644673_75644674insC,c.563_564insC,p.188fs |
| NEIL1(NM_024608,nei endonuclease VIII-like 1 (E. coli),390aa) | g.15:75641682T>C,c.434+2T>C,p.145Donor |
| NEIL1(NM_024608,nei endonuclease VIII-like 1 (E. coli),390aa) | g.15:75641449C>A,c.203C>A,p.P68H |
| NEGR1(NM_173808,neuronal growth regulator 1,354aa) | g.1:72748084G>C,c.94C>G,p.L32V |
| NEGR1(NM_173808,neuronal growth regulator 1,354aa) | g.1:71873154T>G,c.1040A>C,p.Y347S |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24776016T>C,c.2648T>C,p.V883A |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24775530A>G,c.2162A>G,p.K721R |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24775457G>C,c.2089G>C,p.G697R |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24775155C>A,c.1787C>A,p.A596D |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24774791G>A,c.1423G>A,p.A475T |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24774683C>A,c.1315C>A,p.P439T |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24772189C>A,c.883C>A,p.R295S |
| NEFM(NM_005382,neurofilament, medium polypeptide,916aa) | g.8:24771326C>G,c.20C>G,p.S7W |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24813803A>G,c.227T>C,p.V76A |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24813391G>C,c.639C>G,p.I213M |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24811150G>T,c.1329C>A,p.Y443X |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24811149T>G,c.1330A>C,p.T444P |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24811106A>G,c.1373T>C,p.I458T |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24811077C>T,c.1402G>A,p.D468N |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24811065del,c.1414-1del,p.472Acceptordel |
| NEFL(NM_006158,neurofilament, light polypeptide,543aa) | g.8:24810374_24810376del,c.1579_1581del,p.527del |