| 基因名 | 突变 |
|---|---|
| MRPL47(NM_020409,mitochondrial ribosomal protein L47,250aa) | g.3:179306748C>T,c.665G>A,p.R222Q |
| MRPL47(NM_020409,mitochondrial ribosomal protein L47,250aa) | g.3:179306734C>G,c.679G>C,p.E227Q |
| MRPL47(NM_020409,mitochondrial ribosomal protein L47,250aa) | g.3:179306725T>G,c.688A>C,p.K230Q |
| MRPL46(NM_022163,mitochondrial ribosomal protein L46,279aa) | g.15:89010407C>T,c.202G>A,p.E68K |
| MRPL46(NM_022163,mitochondrial ribosomal protein L46,279aa) | g.15:89008917G>A,c.316C>T,p.H106Y |
| MRPL46(NM_022163,mitochondrial ribosomal protein L46,279aa) | g.15:89008827G>A,c.406C>T,p.R136C |
| MRPL46(NM_022163,mitochondrial ribosomal protein L46,279aa) | g.15:89008086C>T,c.437G>A,p.R146Q |
| MRPL46(NM_022163,mitochondrial ribosomal protein L46,279aa) | g.15:89002870C>T,c.814G>A,p.V272I |
| MRPL45(NM_032351,mitochondrial ribosomal protein L45,306aa) | g.17:36478478A>C,c.921A>C,p.X307C |
| MRPL45(NM_032351,mitochondrial ribosomal protein L45,306aa) | g.17:36478450G>T,c.893G>T,p.G298V |
| MRPL45(NM_032351,mitochondrial ribosomal protein L45,306aa) | g.17:36455406A>G,c.334A>G,p.M112V |
| MRPL45(NM_032351,mitochondrial ribosomal protein L45,306aa) | g.17:36454566A>G,c.218A>G,p.D73G |
| MRPL45(NM_032351,mitochondrial ribosomal protein L45,306aa) | g.17:36454436G>A,c.88G>A,p.A30T |
| MRPL45(NM_032351,mitochondrial ribosomal protein L45,306aa) | g.17:36453208T>C,c.59T>C,p.F20S |
| MRPL44(NM_022915,mitochondrial ribosomal protein L44,332aa) | g.2:224824574A>T,c.503A>T,p.H168L |
| MRPL44(NM_022915,mitochondrial ribosomal protein L44,332aa) | g.2:224824567G>A,c.496G>A,p.V166M |
| MRPL44(NM_022915,mitochondrial ribosomal protein L44,332aa) | g.2:224824484C>T,c.413C>T,p.T138I |
| MRPL44(NM_022915,mitochondrial ribosomal protein L44,332aa) | g.2:224824363A>G,c.292A>G,p.I98V |
| MRPL43(NM_176792,mitochondrial ribosomal protein L43,215aa) | g.10:102746673G>C,c.298C>G,p.L100V |
| MRPL43(NM_176792,mitochondrial ribosomal protein L43,215aa) | g.10:102739116G>A,c.542C>T,p.T181I |
| MRPL42(NM_172177,mitochondrial ribosomal protein L42,142aa) | g.12:93881417C>T,c.364C>T,p.R122C |
| MRPL42(NM_172177,mitochondrial ribosomal protein L42,142aa) | g.12:93870771C>T,c.112C>T,p.P38S |
| MRPL41(NM_032477,mitochondrial ribosomal protein L41,137aa) | g.9:140446879A>G,c.346A>G,p.K116E |
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19423393C>T,c.529C>T,p.H177Y |
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19423250G>A,c.386G>A,p.R129H |
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19423249C>T,c.385C>T,p.R129C |
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19423210C>G,c.346C>G,p.L116V |
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19423196C>G,c.332C>G,p.T111S |