| 基因名 | 突变 |
|---|---|
| MTFP1(NM_016498,mitochondrial fission process 1,166aa) | g.22:30823248C>G,c.286C>G,p.P96A |
| MTFP1(NM_016498,mitochondrial fission process 1,166aa) | g.22:30823218G>T,c.256G>T,p.V86L |
| MTFP1(NM_016498,mitochondrial fission process 1,166aa) | g.22:30822783G>T,c.146G>T,p.S49I |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65321938A>G,c.14T>C,p.V5A |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65321936G>A,c.16C>T,p.R6W |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65321780A>T,c.172T>A,p.F58I |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65313896C>T,c.601G>A,p.A201T |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65312589A>T,c.667T>A,p.L223M |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65295476C>T,c.1094G>A,p.C365Y |
| MTFMT(NM_139242,mitochondrial methionyl-tRNA formyltransferase,389aa) | g.15:65295441T>G,c.1129A>C,p.K377Q |
| MTF2(NM_007358,metal response element binding transcription factor 2,593aa) | g.1:93602439A>G,c.1637A>G,p.N546S |
| MTF2(NM_007358,metal response element binding transcription factor 2,593aa) | g.1:93602364G>A,c.1562G>A,p.G521D |
| MTF2(NM_007358,metal response element binding transcription factor 2,593aa) | g.1:93580581G>C,c.419G>C,p.C140S |
| MTF1(NM_005955,metal-regulatory transcription factor 1,753aa) | g.1:38323142G>T,c.189C>A,p.D63E |
| MTF1(NM_005955,metal-regulatory transcription factor 1,753aa) | g.1:38289400C>T,c.1153G>A,p.E385K |
| MTF1(NM_005955,metal-regulatory transcription factor 1,753aa) | g.1:38287912T>C,c.1648A>G,p.I550V |
| MTF1(NM_005955,metal-regulatory transcription factor 1,753aa) | g.1:38281127C>T,c.1943G>A,p.S648N |
| MTF1(NM_005955,metal-regulatory transcription factor 1,753aa) | g.1:38280953T>C,c.2117A>G,p.D706G |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91504058T>C,c.50A>G,p.Y17C |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503914G>A,c.194C>T,p.T65I |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503708G>A,c.400C>T,p.R134C |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503687T>C,c.421A>G,p.K141E |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503417C>T,c.691G>A,p.A231T |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503384G>C,c.724C>G,p.P242A |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503317T>C,c.791A>G,p.N264S |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503288T>C,c.820A>G,p.I274V |
| MTERF(NM_006980,mitochondrial transcription termination factor,399aa) | g.7:91503228C>T,c.880G>A,p.A294T |
| MTERFD3(NM_001033050,MTERF domain containing 3,385aa) | g.12:107372453G>C,c.40C>G,p.L14V |