| 基因名 | 突变 |
|---|---|
| NISCH(NM_007184,nischarin,1504aa) | g.3:52512246A>G,c.1121A>G,p.H374R |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52510592G>A,c.895G>A,p.V299I |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52507822C>T,c.742C>T,p.R248C |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52506388A>G,c.643A>G,p.I215V |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52505893C>T,c.473C>T,p.T158M |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52505889G>A,c.469G>A,p.V157I |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52505866T>C,c.446T>C,p.I149T |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107535139G>A,c.617G>A,p.R206H |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107533232C>A,c.533C>A,p.T178K |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107533175C>G,c.476C>G,p.A159G |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107533159A>G,c.460A>G,p.K154E |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107531152G>C,c.280G>C,p.A94P |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107528664G>A,c.119G>A,p.R40H |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107528655A>T,c.110A>T,p.Y37F |
| NIPSNAP3B(NM_018376,nipsnap homolog 3B (C. elegans),247aa) | g.9:107528642G>A,c.97G>A,p.D33N |
| NIPSNAP3A(NM_015469,nipsnap homolog 3A (C. elegans),247aa) | g.9:107516966G>A,c.565G>A,p.G189R |
| NIPSNAP3A(NM_015469,nipsnap homolog 3A (C. elegans),247aa) | g.9:107516849A>T,c.448A>T,p.T150S |
| NIPSNAP3A(NM_015469,nipsnap homolog 3A (C. elegans),247aa) | g.9:107515214G>A,c.299G>A,p.R100Q |
| NIPSNAP1(NM_003634,nipsnap homolog 1 (C. elegans),284aa) | g.22:29977067G>A,c.5C>T,p.A2V |
| NIPSNAP1(NM_003634,nipsnap homolog 1 (C. elegans),284aa) | g.22:29966487G>A,c.133C>T,p.R45C |
| NIPSNAP1(NM_003634,nipsnap homolog 1 (C. elegans),284aa) | g.22:29954916C>T,c.733G>A,p.E245K |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:37061053G>A,c.7793G>A,p.R2598Q |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:37010260T>C,c.4493T>C,p.I1498T |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:37007541G>C,c.4204G>C,p.E1402Q |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:37000539A>C,c.3369A>C,p.R1123S |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36986185A>G,c.2903A>G,p.N968S |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36985387C>T,c.2105C>T,p.T702I |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36985303A>G,c.2021A>G,p.N674S |