| 基因名 | 突变 |
|---|---|
| MRPS15(NM_031280,mitochondrial ribosomal protein S15,257aa) | g.1:36921868C>G,c.556G>C,p.G186R |
| MRPS15(NM_031280,mitochondrial ribosomal protein S15,257aa) | g.1:36921847G>C,c.577C>G,p.P193A |
| MRPS15(NM_031280,mitochondrial ribosomal protein S15,257aa) | g.1:36921408G>A,c.755C>T,p.T252I |
| MRPS14(NM_022100,mitochondrial ribosomal protein S14,128aa) | g.1:174983914A>G,c.278T>C,p.M93T |
| MRPS12(NM_021107,mitochondrial ribosomal protein S12,138aa) | g.19:39423053C>G,c.130C>G,p.R44G |
| MRPS12(NM_021107,mitochondrial ribosomal protein S12,138aa) | g.19:39421978C>T,c.44C>T,p.T15I |
| MRPS12(NM_021107,mitochondrial ribosomal protein S12,138aa) | g.19:39421957A>G,c.23A>G,p.H8R |
| MRPS11(NM_022839,mitochondrial ribosomal protein S11,194aa) | g.15:89021200G>A,c.575G>A,p.R192Q |
| MRPS11(NM_022839,mitochondrial ribosomal protein S11,194aa) | g.15:89018411C>T,c.352C>T,p.R118W |
| MRPS11(NM_022839,mitochondrial ribosomal protein S11,194aa) | g.15:89011226G>C,c.153G>C,p.Q51H |
| MRPS11(NM_022839,mitochondrial ribosomal protein S11,194aa) | g.15:89011012G>C,c.64G>C,p.G22R |
| MRPS11(NM_022839,mitochondrial ribosomal protein S11,194aa) | g.15:89010976C>T,c.28C>T,p.R10W |
| MRPS10(NM_018141,mitochondrial ribosomal protein S10,201aa) | g.6:42185567G>T,c.21C>A,p.F7L |
| MRPS10(NM_018141,mitochondrial ribosomal protein S10,201aa) | g.6:42185562G>A,c.26C>T,p.A9V |
| MRPS10(NM_018141,mitochondrial ribosomal protein S10,201aa) | g.6:42176083T>C,c.550A>G,p.I184V |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151735913G>A,c.43C>T,p.R15W |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151735576T>C,c.200A>G,p.E67G |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151735493C>T,c.283G>A,p.E95K |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151734961C>T,c.326G>A,p.G109D |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151734922C>T,c.365G>A,p.R122Q |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151734879G>C,c.408C>G,p.N136K |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151733335T>G,c.629A>C,p.E210A |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151733327T>C,c.637A>G,p.I213V |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151733293G>A,c.671C>T,p.T224M |
| MRPL9(NM_031420,mitochondrial ribosomal protein L9,267aa) | g.1:151732586A>T,c.744T>A,p.Y248X |
| MRPL55(NM_181462,mitochondrial ribosomal protein L55,164aa) | g.1:228295697C>T,c.115G>A,p.G39S |
| MRPL55(NM_181462,mitochondrial ribosomal protein L55,164aa) | g.1:228295527G>A,c.178C>T,p.R60C |
| MRPL55(NM_181462,mitochondrial ribosomal protein L55,164aa) | g.1:228295523C>T,c.182G>A,p.R61H |