| 基因名 | 突变 |
|---|---|
| NHEJ1(NM_024782,nonhomologous end-joining factor 1,299aa) | g.2:220022285A>G,c.299T>C,p.V100A |
| NHEJ1(NM_024782,nonhomologous end-joining factor 1,299aa) | g.2:220011458G>A,c.532C>T,p.R178X |
| NHEJ1(NM_024782,nonhomologous end-joining factor 1,299aa) | g.2:220011430T>C,c.560A>G,p.N187S |
| NHEJ1(NM_024782,nonhomologous end-joining factor 1,299aa) | g.2:219942026T>A,c.767A>T,p.Q256L |
| NGRN(NM_001033088,neugrin, neurite outgrowth associated,291aa) | g.15:90814878G>A,c.734G>A,p.R245K |
| NGRN(NM_001033088,neugrin, neurite outgrowth associated,291aa) | g.15:90814664C>T,c.520C>T,p.L174F |
| NGRN(NM_001033088,neugrin, neurite outgrowth associated,291aa) | g.15:90814433G>C,c.289G>C,p.E97Q |
| NGRN(NM_001033088,neugrin, neurite outgrowth associated,291aa) | g.15:90808964T>C,c.20T>C,p.L7P |
| NGLY1(NM_018297,N-glycanase 1,654aa) | g.3:25805661C>T,c.388G>A,p.A130T |
| NGLY1(NM_018297,N-glycanase 1,654aa) | g.3:25781288T>C,c.661A>G,p.I221V |
| NGLY1(NM_018297,N-glycanase 1,654aa) | g.3:25781080T>C,c.869A>G,p.N290S |
| NGLY1(NM_018297,N-glycanase 1,654aa) | g.3:25773880G>C,c.1355C>G,p.P452R |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47589294C>T,c.862C>T,p.R288W |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47587819C>T,c.614C>T,p.S205L |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47584005G>A,c.553G>A,p.D185N |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47583847C>T,c.395C>T,p.S132L |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47583681G>A,c.229G>A,p.V77M |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47579479G>A,c.121G>A,p.G41S |
| NGFR(NM_002507,nerve growth factor receptor,427aa) | g.17:47579431C>T,c.73C>T,p.L25F |
| NGFRAP1(NM_206915,nerve growth factor receptor (TNFRSF16) associated protein 1,111aa) | g.X:102632714A>G,c.295A>G,p.N99D |
| NGF(NM_002506,nerve growth factor (beta polypeptide),241aa) | g.1:115829313G>A,c.104C>T,p.A35V |
| NGF(NM_002506,nerve growth factor (beta polypeptide),241aa) | g.1:115829244G>A,c.173C>T,p.A58V |
| NGF(NM_002506,nerve growth factor (beta polypeptide),241aa) | g.1:115829203C>T,c.214G>A,p.V72M |
| NGF(NM_002506,nerve growth factor (beta polypeptide),241aa) | g.1:115829178C>T,c.239G>A,p.R80Q |
| NGF(NM_002506,nerve growth factor (beta polypeptide),241aa) | g.1:115829170G>A,c.247C>T,p.R83C |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233839563C>T,c.38G>A,p.R13Q |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233839448T>G,c.153A>C,p.K51N |
| NGEF(NM_019850,neuronal guanine nucleotide exchange factor,710aa) | g.2:233839369T>C,c.232A>G,p.R78G |