| 基因名 | 突变 |
|---|---|
| MTRF1L(NM_019041,mitochondrial translational release factor 1-like,380aa) | g.6:153323594C>T,c.227G>A,p.R76Q |
| MTRF1L(NM_019041,mitochondrial translational release factor 1-like,380aa) | g.6:153323570A>G,c.251T>C,p.L84S |
| MTRF1L(NM_019041,mitochondrial translational release factor 1-like,380aa) | g.6:153315695C>T,c.640G>A,p.V214I |
| MTRF1L(NM_019041,mitochondrial translational release factor 1-like,380aa) | g.6:153315691T>C,c.644A>G,p.H215R |
| MTPAP(NM_018109,mitochondrial poly(A) polymerase,582aa) | g.10:30638188A>G,c.17T>C,p.V6A |
| MTPAP(NM_018109,mitochondrial poly(A) polymerase,582aa) | g.10:30638090C>A,c.115G>T,p.D39Y |
| MTPAP(NM_018109,mitochondrial poly(A) polymerase,582aa) | g.10:30629226G>A,c.484C>T,p.R162C |
| MTPAP(NM_018109,mitochondrial poly(A) polymerase,582aa) | g.10:30602650C>T,c.1637G>A,p.S546N |
| MTPAP(NM_018109,mitochondrial poly(A) polymerase,582aa) | g.10:30602551C>T,c.1736G>A,p.S579N |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11308103C>T,c.889G>A,p.D297N |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11308007C>T,c.985G>A,p.A329T |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11273494T>C,c.3247A>G,p.M1083V |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11272529G>A,c.3401C>T,p.A1134V |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11269442_11269443insC,c.3727_3728insG,p.1243fs |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11204731G>A,c.4846C>T,p.R1616C |
| MTOR(NM_004958,mechanistic target of rapamycin (serine/threonine kinase),2549aa) | g.1:11190693C>T,c.5506G>A,p.A1836T |
| MTO1(NM_001123226,mitochondrial tRNA translation optimization 1,732aa) | g.6:74201986T>C,c.1787T>C,p.V596A |
| MTO1(NM_001123226,mitochondrial tRNA translation optimization 1,732aa) | g.6:74190440C>G,c.1172C>G,p.T391S |
| MTO1(NM_001123226,mitochondrial tRNA translation optimization 1,732aa) | g.6:74189551A>G,c.922A>G,p.T308A |
| MTO1(NM_001123226,mitochondrial tRNA translation optimization 1,732aa) | g.6:74183172C>T,c.620C>T,p.T207M |
| MTO1(NM_001123226,mitochondrial tRNA translation optimization 1,732aa) | g.6:74171764C>G,c.187C>G,p.L63V |
| MTO1(NM_001123226,mitochondrial tRNA translation optimization 1,732aa) | g.6:74171647C>T,c.70C>T,p.R24W |
| MTNR1B(NM_005959,melatonin receptor 1B,362aa) | g.11:92715363C>T,c.974C>T,p.A325V |
| MTNR1B(NM_005959,melatonin receptor 1B,362aa) | g.11:92715132G>A,c.743G>A,p.R248Q |
| MTNR1B(NM_005959,melatonin receptor 1B,362aa) | g.11:92715117A>G,c.728A>G,p.K243R |
| MTNR1B(NM_005959,melatonin receptor 1B,362aa) | g.11:92715116A>G,c.727A>G,p.K243E |
| MTNR1B(NM_005959,melatonin receptor 1B,362aa) | g.11:92715092A>C,c.703A>C,p.K235Q |
| MTNR1B(NM_005959,melatonin receptor 1B,362aa) | g.11:92715081G>A,c.692G>A,p.R231H |