| 基因名 | 突变 |
|---|---|
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204913510G>A,c.67G>A,p.G23R |
| NFASC(NM_001005388,neurofascin,1240aa) | g.1:204913465C>T,c.22C>T,p.P8S |
| NFAM1(NM_145912,NFAT activating protein with ITAM motif 1,270aa) | g.22:42828276C>T,c.88G>A,p.V30M |
| NFAM1(NM_145912,NFAT activating protein with ITAM motif 1,270aa) | g.22:42807455G>A,c.409C>T,p.H137Y |
| NFAM1(NM_145912,NFAT activating protein with ITAM motif 1,270aa) | g.22:42781208C>T,c.772G>A,p.E258K |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29683557_29683558insC,c.7695_7696insC,p.2565fs |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29653237G>A,c.5235G>A,p.K1745K |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29554278G>A,c.2294G>A,p.R765H |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29553484C>T,c.2033C>T,p.P678L |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29552200A>G,c.1933A>G,p.M645V |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29509641G>A,c.846G>A,p.Q282Q |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29508775G>A,c.702G>A,p.L234L |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29496957T>A,c.528T>A,p.D176E |
| NF1(NM_001042492,neurofibromin 1,2839aa) | g.17:29483047C>G,c.107C>G,p.T36S |
| NEXN(NM_144573,nexilin (F actin binding protein),675aa) | g.1:78407816G>C,c.1582G>C,p.E528Q |
| NEXN(NM_144573,nexilin (F actin binding protein),675aa) | g.1:78395131A>C,c.995A>C,p.E332A |
| NEXN(NM_144573,nexilin (F actin binding protein),675aa) | g.1:78392569C>T,c.856C>T,p.R286W |
| NEXN(NM_144573,nexilin (F actin binding protein),675aa) | g.1:78392548C>T,c.835C>T,p.R279C |
| NEXN(NM_144573,nexilin (F actin binding protein),675aa) | g.1:78392446G>A,c.733G>A,p.G245R |
| NEXN(NM_144573,nexilin (F actin binding protein),675aa) | g.1:78392121T>C,c.512T>C,p.I171T |
| NEUROG3(NM_020999,neurogenin 3,214aa) | g.10:71332754C>G,c.46G>C,p.E16Q |
| NEUROG3(NM_020999,neurogenin 3,214aa) | g.10:71332301C>T,c.499G>A,p.G167R |
| NEUROG3(NM_020999,neurogenin 3,214aa) | g.10:71332204A>G,c.596T>C,p.F199S |
| NEUROG2(NM_024019,neurogenin 2,272aa) | g.4:113436546G>A,c.86C>T,p.A29V |
| NEUROG2(NM_024019,neurogenin 2,272aa) | g.4:113436014G>C,c.618C>G,p.D206E |
| NEUROD6(NM_022728,neuronal differentiation 6,337aa) | g.7:31378651C>T,c.232G>A,p.G78S |
| NEUROD6(NM_022728,neuronal differentiation 6,337aa) | g.7:31378399C>T,c.484G>A,p.V162I |
| NEUROD6(NM_022728,neuronal differentiation 6,337aa) | g.7:31377952C>T,c.931G>A,p.D311N |