| 基因名 | 突变 |
|---|---|
| NKAIN4(NM_152864,Na+/K+ transporting ATPase interacting 4,208aa) | g.20:61878950A>C,c.451T>G,p.C151G |
| NKAIN4(NM_152864,Na+/K+ transporting ATPase interacting 4,208aa) | g.20:61878932C>T,c.469G>A,p.A157T |
| NKAIN4(NM_152864,Na+/K+ transporting ATPase interacting 4,208aa) | g.20:61873945G>A,c.563C>T,p.P188L |
| NKAIN3(NM_173688,Na+/K+ transporting ATPase interacting 3,197aa) | g.8:63659635G>A,c.418G>A,p.V140I |
| NKAIN3(NM_173688,Na+/K+ transporting ATPase interacting 3,197aa) | g.8:63502337T>C,c.257T>C,p.V86A |
| NKAIN3(NM_173688,Na+/K+ transporting ATPase interacting 3,197aa) | g.8:63492198T>A,c.155T>A,p.F52Y |
| NKAIN1(NM_024522,Na+/K+ transporting ATPase interacting 1,207aa) | g.1:31658146C>G,c.221G>C,p.G74A |
| NIT2(NM_020202,nitrilase family, member 2,276aa) | g.3:100057993G>A,c.70G>A,p.A24T |
| NIT2(NM_020202,nitrilase family, member 2,276aa) | g.3:100057990C>T,c.67C>T,p.R23C |
| NIT1(NM_001185092,nitrilase 1,243aa) | g.1:161090011G>C,c.706G>C,p.A236P |
| NIT1(NM_001185092,nitrilase 1,243aa) | g.1:161089650G>A,c.499G>A,p.V167I |
| NIT1(NM_001185092,nitrilase 1,243aa) | g.1:161088583T>G,c.10T>G,p.F4V |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52526372G>T,c.4389G>T,p.Q1463H |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52526263C>T,c.4280C>T,p.P1427L |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52525923C>T,c.3940C>T,p.R1314C |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52524754A>G,c.3647A>G,p.N1216S |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52523405C>T,c.3167C>T,p.A1056V |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52522591C>T,c.3083C>T,p.A1028V |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52522297G>A,c.2789G>A,p.R930H |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52522218G>A,c.2710G>A,p.A904T |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52522176G>A,c.2668G>A,p.V890M |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52522119G>A,c.2611G>A,p.A871T |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52521921G>A,c.2413G>A,p.A805T |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52521865A>G,c.2357A>G,p.H786R |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52521522G>A,c.2014G>A,p.E672K |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52521355G>A,c.1847G>A,p.R616Q |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52521286T>C,c.1778T>C,p.I593T |
| NISCH(NM_007184,nischarin,1504aa) | g.3:52519795C>T,c.1655C>T,p.A552V |