| 基因名 | 突变 |
|---|---|
| NPAS1(NM_002517,neuronal PAS domain protein 1,590aa) | g.19:47546120G>A,c.1270G>A,p.V424M |
| NPAS1(NM_002517,neuronal PAS domain protein 1,590aa) | g.19:47542783G>A,c.923G>A,p.R308H |
| NPAS1(NM_002517,neuronal PAS domain protein 1,590aa) | g.19:47535922G>A,c.454G>A,p.A152T |
| NPAS1(NM_002517,neuronal PAS domain protein 1,590aa) | g.19:47535544C>T,c.367C>T,p.R123C |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24924120C>T,c.3106C>T,p.L1036F |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24924042G>A,c.3028G>A,p.G1010R |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923799A>C,c.2785A>C,p.T929P |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923459A>T,c.2445A>T,p.L815F |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923340G>T,c.2326G>T,p.A776S |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923316G>A,c.2302G>A,p.A768T |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923283G>A,c.2269G>A,p.A757T |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923107A>G,c.2093A>G,p.N698S |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24923073A>G,c.2059A>G,p.T687A |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24922932G>A,c.1918G>A,p.G640R |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24922230C>G,c.1216C>G,p.Q406E |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921859A>G,c.845A>G,p.N282S |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921771G>C,c.757G>C,p.G253R |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921660T>A,c.646T>A,p.F216I |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921649T>C,c.635T>C,p.V212A |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921561G>A,c.547G>A,p.G183R |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921468T>C,c.454T>C,p.W152R |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921150C>T,c.136C>T,p.P46S |
| NPAP1(NM_018958,nuclear pore associated protein 1,1156aa) | g.15:24921115C>A,c.101C>A,p.P34Q |
| NOXRED1(NM_001113475,NADP-dependent oxidoreductase domain containing 1,359aa) | g.14:77873878C>T,c.460G>A,p.V154I |
| NOXRED1(NM_001113475,NADP-dependent oxidoreductase domain containing 1,359aa) | g.14:77873861G>C,c.477C>G,p.S159R |
| NOXRED1(NM_001113475,NADP-dependent oxidoreductase domain containing 1,359aa) | g.14:77873117G>T,c.632C>A,p.A211D |
| NOXO1(NM_172168,NADPH oxidase organizer 1,376aa) | g.16:2031168G>A,c.13C>T,p.R5X |
| NOXO1(NM_172168,NADPH oxidase organizer 1,376aa) | g.16:2031163G>T,c.18C>A,p.Y6X |