| 基因名 | 突变 |
|---|---|
| CYB561(NM_001017916,cytochrome b561,251aa) | g.17:61511879C>T,c.640G>A,p.A214T |
| CYB561(NM_001017916,cytochrome b561,251aa) | g.17:61511791G>A,c.728C>T,p.T243M |
| CYB561D2(NM_007022,cytochrome b561 family, member D2,222aa) | g.3:50391167C>T,c.661C>T,p.Q221X |
| CYB561D2(NM_007022,cytochrome b561 family, member D2,222aa) | g.3:50391017A>G,c.511A>G,p.S171G |
| CYB561D2(NM_007022,cytochrome b561 family, member D2,222aa) | g.3:50390964C>T,c.458C>T,p.A153V |
| CYB561D2(NM_007022,cytochrome b561 family, member D2,222aa) | g.3:50390756C>T,c.250C>T,p.R84C |
| CYB561D1(NM_001134404,cytochrome b561 family, member D1,128aa) | g.1:110038311A>G,c.301A>G,p.S101G |
| CYB561A3(NM_001161454,cytochrome b561 family, member A3,259aa) | g.11:61121264C>T,c.436G>A,p.A146T |
| CYB561A3(NM_001161454,cytochrome b561 family, member A3,259aa) | g.11:61120574G>A,c.482C>T,p.A161V |
| CYB561A3(NM_001161454,cytochrome b561 family, member A3,259aa) | g.11:61120536C>T,c.520G>A,p.V174I |
| CYB561A3(NM_001161454,cytochrome b561 family, member A3,259aa) | g.11:61120500C>T,c.556G>A,p.A186T |
| CXXC5(NM_016463,CXXC finger protein 5,322aa) | g.5:139060247G>A,c.139G>A,p.A47T |
| CXXC4(NM_025212,CXXC finger protein 4,367aa) | g.4:105412454C>G,c.506G>C,p.S169T |
| CXXC1(NM_001101654,CXXC finger protein 1,660aa) | g.18:47811604G>A,c.680C>T,p.T227M |
| CXXC1(NM_001101654,CXXC finger protein 1,660aa) | g.18:47811527G>A,c.757C>T,p.R253C |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242815157C>T,c.1450C>T,p.R484C |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242815059C>T,c.1352C>T,p.A451V |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814983C>T,c.1276C>T,p.P426S |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814702C>T,c.995C>T,p.S332L |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814639T>C,c.932T>C,p.L311P |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814606T>C,c.899T>C,p.V300A |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814375del,c.668del,p.223fs |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814360T>C,c.653T>C,p.I218T |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814228C>T,c.521C>T,p.T174M |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814203G>A,c.496G>A,p.A166T |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814188G>A,c.481G>A,p.A161T |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814027C>T,c.320C>T,p.P107L |
| CXXC11(NM_173821,CXXC finger protein 11,572aa) | g.2:242814009G>A,c.302G>A,p.G101E |