| 基因名 | 突变 |
|---|---|
| OXCT2(NM_022120,3-oxoacid CoA transferase 2,517aa) | g.1:40235409G>A,c.1519C>T,p.P507S |
| OXCT1(NM_000436,3-oxoacid CoA transferase 1,520aa) | g.5:41862819G>A,c.112C>T,p.R38C |
| OXCT1(NM_000436,3-oxoacid CoA transferase 1,520aa) | g.5:41862798C>G,c.133G>C,p.D45H |
| OXCT1(NM_000436,3-oxoacid CoA transferase 1,520aa) | g.5:41862758G>A,c.173C>T,p.T58M |
| OXCT1(NM_000436,3-oxoacid CoA transferase 1,520aa) | g.5:41842798C>A,c.650G>T,p.R217L |
| OXCT1(NM_000436,3-oxoacid CoA transferase 1,520aa) | g.5:41749699T>C,c.1349A>G,p.H450R |
| OXCT1(NM_000436,3-oxoacid CoA transferase 1,520aa) | g.5:41731839C>T,c.1555G>A,p.A519T |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240713_23240714insAGC,c.1434_1435insAGC,p.478_479ins1aa |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240530C>T,c.1336C>T,p.R446W |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240522A>G,c.1328A>G,p.Q443R |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240501G>A,c.1307G>A,p.R436H |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240498C>T,c.1304C>T,p.T435M |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240359C>T,c.1252C>T,p.R418W |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240353C>G,c.1246C>G,p.P416A |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240326C>T,c.1219C>T,p.R407C |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240303G>A,c.1196G>A,p.R399H |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240238G>T,c.1131G>T,p.M377I |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23240227G>A,c.1120G>A,p.A374T |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23239694A>C,c.874A>C,p.I292L |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23239051G>A,c.671G>A,p.R224Q |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23239038G>A,c.658G>A,p.V220M |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23237212G>A,c.451G>A,p.V151I |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23236524C>T,c.311C>T,p.A104V |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23235971C>T,c.241C>T,p.R81W |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23235891C>T,c.161C>T,p.A54V |
| OXA1L(NM_005015,oxidase (cytochrome c) assembly 1-like,495aa) | g.14:23235776G>A,c.46G>A,p.A16T |
| OVOL3(NM_001270948,ovo-like 3 (Drosophila),214aa) | g.19:36603843A>T,c.413A>T,p.K138M |
| OVOL3(NM_001270948,ovo-like 3 (Drosophila),214aa) | g.19:36602178G>A,c.74G>A,p.R25Q |