| 基因名 | 突变 |
|---|---|
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032167T>C,c.3646A>G,p.N1216D |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66192489G>A,c.2128G>A,p.V710M |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66192465A>G,c.2104A>G,p.N702D |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66192333G>A,c.1972G>A,p.G658R |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66192121C>T,c.1760C>T,p.T587M |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66191859C>A,c.1498C>A,p.Q500K |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66191310A>C,c.949A>C,p.M317L |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66191115C>T,c.875C>T,p.A292V |
| NPAS4(NM_178864,neuronal PAS domain protein 4,802aa) | g.11:66188725G>T,c.75G>T,p.E25D |
| NPAS3(NM_001164749,neuronal PAS domain protein 3,933aa) | g.14:34270283G>A,c.2770G>A,p.A924T |
| NPAS3(NM_001164749,neuronal PAS domain protein 3,933aa) | g.14:34269167G>C,c.1654G>C,p.A552P |
| NPAS3(NM_001164749,neuronal PAS domain protein 3,933aa) | g.14:34266771C>A,c.1410C>A,p.D470E |
| NPAS3(NM_001164749,neuronal PAS domain protein 3,933aa) | g.14:34243661A>G,c.971A>G,p.N324S |
| NPAS3(NM_001164749,neuronal PAS domain protein 3,933aa) | g.14:34243651C>G,c.961C>G,p.P321A |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101611997G>T,c.2428G>T,p.V810F |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101609961G>A,c.2264G>A,p.R755Q |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101609874C>T,c.2177C>T,p.P726L |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101607291G>A,c.2068G>A,p.A690T |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101606799G>A,c.1909G>A,p.A637T |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101606797G>A,c.1907G>A,p.S636N |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101606788C>T,c.1898C>T,p.P633L |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101604590G>A,c.1679G>A,p.R560Q |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101594191C>T,c.1412C>T,p.S471L |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101591304A>G,c.1180A>G,p.T394A |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101591290G>A,c.1166G>A,p.R389Q |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101580552A>G,c.631A>G,p.T211A |
| NPAS2(NM_002518,neuronal PAS domain protein 2,824aa) | g.2:101541736G>C,c.161G>C,p.G54A |
| NPAS1(NM_002517,neuronal PAS domain protein 1,590aa) | g.19:47548713C>A,c.1577C>A,p.A526E |