| 基因名 | 突变 |
|---|---|
| CYBA(NM_000101,cytochrome b-245, alpha polypeptide,195aa) | g.16:88709828A>G,c.521T>C,p.V174A |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54661262C>T,c.28G>A,p.D10N |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54661234C>T,c.56G>A,p.R19Q |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54661163G>A,c.127C>T,p.R43X |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54661150C>T,c.140G>A,p.R47K |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54656470G>A,c.298C>T,p.P100S |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54656440C>T,c.328G>A,p.G110S |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54644992C>T,c.574G>A,p.G192S |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54644899C>G,c.667G>C,p.E223Q |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54644859C>T,c.707G>A,p.R236H |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54640491C>G,c.749G>C,p.S250T |
| CYB5RL(NM_001031672,cytochrome b5 reductase-like,315aa) | g.1:54640318T>C,c.922A>G,p.T308A |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84665138G>A,c.1468G>A,p.V490I |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84650310A>G,c.1336A>G,p.K446E |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84649879A>G,c.1213A>G,p.M405V |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84644445C>T,c.946C>T,p.P316S |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84632166A>G,c.668A>G,p.H223R |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84630825G>A,c.589G>A,p.V197I |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84624141G>A,c.419G>A,p.R140H |
| CYB5R4(NM_016230,cytochrome b5 reductase 4,521aa) | g.6:84569563G>C,c.62G>C,p.G21A |
| CYB5R3(NM_001129819,cytochrome b5 reductase 3,278aa) | g.22:43032729C>G,c.76G>C,p.D26H |
| CYB5R3(NM_001129819,cytochrome b5 reductase 3,278aa) | g.22:43026908A>C,c.244T>G,p.F82V |
| CYB5R3(NM_001129819,cytochrome b5 reductase 3,278aa) | g.22:43026905C>T,c.247G>A,p.V83M |
| CYB5R3(NM_001129819,cytochrome b5 reductase 3,278aa) | g.22:43024271G>C,c.281C>G,p.T94S |
| CYB5R3(NM_001129819,cytochrome b5 reductase 3,278aa) | g.22:43015795C>T,c.821G>A,p.R274H |
| CYB5R2(NM_016229,cytochrome b5 reductase 2,276aa) | g.11:7694013T>G,c.44A>C,p.E15A |
| CYB5R2(NM_016229,cytochrome b5 reductase 2,276aa) | g.11:7694002G>A,c.55C>T,p.P19S |
| CYB5R2(NM_016229,cytochrome b5 reductase 2,276aa) | g.11:7693708G>A,c.125C>T,p.P42L |