| 基因名 | 突变 |
|---|---|
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74035829C>T,c.1160G>A,p.R387H |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74034453T>C,c.1190A>G,p.D397G |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74034445A>G,c.1198T>C,p.C400R |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74034351A>G,c.1292T>C,p.I431T |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74032747C>T,c.1480G>A,p.E494K |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74028903A>G,c.1627T>C,p.C543R |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74026093C>T,c.1814G>A,p.R605H |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74021855T>A,c.1919A>T,p.E640V |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74021853A>T,c.1921T>A,p.F641I |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74021852A>T,c.1922T>A,p.F641Y |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74021847_74021852del,c.1922_1927del,p.641_643del |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74021798A>G,c.1976T>C,p.I659T |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74021509A>T,c.2080T>A,p.S694T |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74018232A>G,c.2279T>C,p.I760T |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74017607C>T,c.2309G>A,p.G770D |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74017590G>C,c.2326C>G,p.R776G |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74017499C>T,c.2417G>A,p.R806Q |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158409129A>G,c.2129A>G,p.K710R |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158408032G>A,c.1990G>A,p.V664I |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158366900G>A,c.643G>A,p.V215I |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158366879G>A,c.622G>A,p.E208K |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158364643G>A,c.479G>A,p.R160H |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158364640A>G,c.476A>G,p.N159S |
| GFM1(NM_024996,G elongation factor, mitochondrial 1,751aa) | g.3:158363463A>G,c.127A>G,p.N43D |
| GFI1(NM_005263,growth factor independent 1 transcription repressor,422aa) | g.1:92948938C>T,c.107G>A,p.S36N |
| GFI1(NM_005263,growth factor independent 1 transcription repressor,422aa) | g.1:92946625G>C,c.319C>G,p.P107A |
| GFI1(NM_005263,growth factor independent 1 transcription repressor,422aa) | g.1:92946226C>G,c.718G>C,p.E240Q |
| GFI1B(NM_004188,growth factor independent 1B transcription repressor,330aa) | g.9:135864529G>A,c.592G>A,p.G198S |