| 基因名 | 突变 |
|---|---|
| MRPS35(NM_021821,mitochondrial ribosomal protein S35,323aa) | g.12:27863792C>A,c.16C>A,p.L6I |
| MRPS34(NM_023936,mitochondrial ribosomal protein S34,218aa) | g.16:1823054C>G,c.67G>C,p.E23Q |
| MRPS34(NM_023936,mitochondrial ribosomal protein S34,218aa) | g.16:1823024G>T,c.97C>A,p.L33I |
| MRPS34(NM_023936,mitochondrial ribosomal protein S34,218aa) | g.16:1822802G>A,c.319C>T,p.Q107X |
| MRPS34(NM_023936,mitochondrial ribosomal protein S34,218aa) | g.16:1822797_1822798insACCT,c.321+2insAGGT,p.107Donorins |
| MRPS34(NM_023936,mitochondrial ribosomal protein S34,218aa) | g.16:1822642C>G,c.327G>C,p.L109F |
| MRPS34(NM_023936,mitochondrial ribosomal protein S34,218aa) | g.16:1822443C>G,c.436G>C,p.E146Q |
| MRPS33(NM_016071,mitochondrial ribosomal protein S33,106aa) | g.7:140710396C>T,c.38G>A,p.R13H |
| MRPS31(NM_005830,mitochondrial ribosomal protein S31,395aa) | g.13:41341137G>A,c.185C>T,p.T62I |
| MRPS31(NM_005830,mitochondrial ribosomal protein S31,395aa) | g.13:41331027G>A,c.722C>T,p.T241M |
| MRPS31(NM_005830,mitochondrial ribosomal protein S31,395aa) | g.13:41323397C>T,c.835G>A,p.D279N |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44812095C>T,c.826C>T,p.R276W |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44812044A>G,c.775A>G,p.I259V |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44811233C>T,c.724C>T,p.R242X |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44811218C>T,c.709C>T,p.P237S |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44811207T>G,c.698T>G,p.I233R |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809446G>C,c.382G>C,p.E128Q |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809408T>A,c.344T>A,p.L115Q |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809369C>T,c.305C>T,p.A102V |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809338A>G,c.274A>G,p.M92V |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809162G>C,c.98G>C,p.C33S |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809101G>T,c.37G>T,p.G13C |
| MRPS30(NM_016640,mitochondrial ribosomal protein S30,439aa) | g.5:44809098C>A,c.34C>A,p.R12S |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138395969A>G,c.881A>G,p.H294R |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138395713G>A,c.625G>A,p.V209M |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138395626C>T,c.538C>T,p.R180C |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138395624C>T,c.536C>T,p.A179V |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138395567G>A,c.479G>A,p.R160H |