| 基因名 | 突变 |
|---|---|
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22969251G>A,c.2477G>A,p.R826Q |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22969238G>A,c.2464G>A,p.D822N |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22969232G>A,c.2458G>A,p.G820S |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22969215G>A,c.2441G>A,p.R814Q |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22963869A>G,c.2383A>G,p.I795V |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22963770A>G,c.2284A>G,p.I762V |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22945082G>A,c.1153G>A,p.A385T |
| CYFIP1(NM_014608,cytoplasmic FMR1 interacting protein 1,1253aa) | g.15:22940792C>T,c.1057C>T,p.R353C |
| CYC1(NM_001916,cytochrome c-1,325aa) | g.8:145151563G>A,c.688G>A,p.G230S |
| CYC1(NM_001916,cytochrome c-1,325aa) | g.8:145151382A>T,c.596A>T,p.Y199F |
| CYC1(NM_001916,cytochrome c-1,325aa) | g.8:145151366C>G,c.580C>G,p.P194A |
| CYC1(NM_001916,cytochrome c-1,325aa) | g.8:145150832A>G,c.226A>G,p.M76V |
| CYBRD1(NM_024843,cytochrome b reductase 1,286aa) | g.2:172411273G>A,c.797G>A,p.S266N |
| CYBRD1(NM_024843,cytochrome b reductase 1,286aa) | g.2:172411243A>G,c.767A>G,p.N256S |
| CYBRD1(NM_024843,cytochrome b reductase 1,286aa) | g.2:172411153G>A,c.677G>A,p.R226H |
| CYBRD1(NM_024843,cytochrome b reductase 1,286aa) | g.2:172409922C>T,c.469C>T,p.P157S |
| CYBRD1(NM_024843,cytochrome b reductase 1,286aa) | g.2:172409920T>C,c.467T>C,p.M156T |
| CYBB(NM_000397,cytochrome b-245, beta polypeptide,570aa) | g.X:37668909T>A,c.1551T>A,p.D517E |
| CYBB(NM_000397,cytochrome b-245, beta polypeptide,570aa) | g.X:37665739G>A,c.1414G>A,p.G472S |
| CYBB(NM_000397,cytochrome b-245, beta polypeptide,570aa) | g.X:37663322G>C,c.1090G>C,p.G364R |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88717415G>A,c.7C>T,p.Q3X |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88714511C>T,c.70G>A,p.G24R |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88713533T>G,c.179A>C,p.K60T |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88713236A>G,c.214T>C,p.Y72H |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88713224C>T,c.226G>A,p.V76M |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88713176C>T,c.274G>A,p.V92I |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88712600G>A,c.293C>T,p.S98L |
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88709946C>T,c.403G>A,p.E135K |