| 基因名 | 突变 |
|---|---|
| NINL(NM_025176,ninein-like,1382aa) | g.20:25434139C>T,c.4097G>A,p.R1366H |
| NINL(NM_025176,ninein-like,1382aa) | g.20:25434093_25434094del,c.4142_4143del,p.1381fs |
| NINJ2(NM_016533,ninjurin 2,188aa) | g.12:675281C>T,c.235G>A,p.V79M |
| NINJ2(NM_016533,ninjurin 2,188aa) | g.12:675173G>C,c.343C>G,p.L115V |
| NINJ2(NM_016533,ninjurin 2,188aa) | g.12:675134C>T,c.382G>A,p.V128I |
| NINJ2(NM_016533,ninjurin 2,188aa) | g.12:674531C>T,c.437G>A,p.R146Q |
| NINJ2(NM_016533,ninjurin 2,188aa) | g.12:674487T>C,c.481A>G,p.T161A |
| NINJ1(NM_004148,ninjurin 1,152aa) | g.9:95888815C>T,c.181G>A,p.A61T |
| NINJ1(NM_004148,ninjurin 1,152aa) | g.9:95887320G>T,c.329C>A,p.A110D |
| NINJ1(NM_004148,ninjurin 1,152aa) | g.9:95887281G>A,c.368C>T,p.T123M |
| NIF3L1(NM_021824,NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae),350aa) | g.2:201768238C>T,c.890C>T,p.T297I |
| NIF3L1(NM_021824,NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae),350aa) | g.2:201764125G>A,c.802G>A,p.V268M |
| NIF3L1(NM_021824,NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae),350aa) | g.2:201760067G>A,c.599G>A,p.R200Q |
| NIF3L1(NM_021824,NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae),350aa) | g.2:201760066C>T,c.598C>T,p.R200W |
| NIF3L1(NM_021824,NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae),350aa) | g.2:201756970C>T,c.223C>T,p.R75C |
| NIF3L1(NM_021824,NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae),350aa) | g.2:201756797C>T,c.50C>T,p.S17L |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52535648G>T,c.65C>A,p.P22Q |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52534758C>G,c.352G>C,p.G118R |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52526939G>A,c.670C>T,p.R224W |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52526891G>A,c.718C>T,p.P240S |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520915G>A,c.892C>T,p.R298C |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520782A>T,c.1025T>A,p.I342N |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520746G>T,c.1061C>A,p.P354H |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520528C>T,c.1198G>A,p.D400N |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520422A>T,c.1304T>A,p.V435D |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520386C>T,c.1340G>A,p.R447Q |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520368C>T,c.1358G>A,p.G453D |
| NID2(NM_007361,nidogen 2 (osteonidogen),1375aa) | g.14:52520341G>A,c.1385C>T,p.T462M |