| 基因名 | 突变 |
|---|---|
| MTIF3(NM_001166263,mitochondrial translational initiation factor 3,278aa) | g.13:28014167C>T,c.419G>A,p.R140Q |
| MTIF3(NM_001166263,mitochondrial translational initiation factor 3,278aa) | g.13:28009920G>C,c.729C>G,p.F243L |
| MTIF3(NM_001166263,mitochondrial translational initiation factor 3,278aa) | g.13:28009885T>G,c.764A>C,p.Q255P |
| MTIF2(NM_001005369,mitochondrial translational initiation factor 2,727aa) | g.2:55490819G>T,c.176C>A,p.T59N |
| MTIF2(NM_001005369,mitochondrial translational initiation factor 2,727aa) | g.2:55481793C>T,c.500G>A,p.R167K |
| MTIF2(NM_001005369,mitochondrial translational initiation factor 2,727aa) | g.2:55473507T>C,c.1072A>G,p.T358A |
| MTIF2(NM_001005369,mitochondrial translational initiation factor 2,727aa) | g.2:55470136C>G,c.1645G>C,p.V549L |
| MTIF2(NM_001005369,mitochondrial translational initiation factor 2,727aa) | g.2:55470115C>T,c.1666G>A,p.V556I |
| MTIF2(NM_001005369,mitochondrial translational initiation factor 2,727aa) | g.2:55464459A>C,c.1976T>G,p.F659C |
| MTHFS(NM_006441,5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase),203aa) | g.15:80189230C>A,c.101G>T,p.R34L |
| MTHFS(NM_006441,5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase),203aa) | g.15:80181610G>C,c.204C>G,p.I68M |
| MTHFS(NM_006441,5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase),203aa) | g.15:80181494G>A,c.320C>T,p.T107I |
| MTHFS(NM_006441,5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase),203aa) | g.15:80181459C>G,c.355G>C,p.V119L |
| MTHFS(NM_006441,5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase),203aa) | g.15:80137560T>C,c.604A>G,p.T202A |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86588318C>T,c.56G>A,p.G19D |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86585743G>C,c.133C>G,p.L45V |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86575767C>T,c.495G>A,p.M165I |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86566042G>A,c.727C>T,p.R243C |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86566039C>T,c.730G>A,p.A244T |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86565964G>C,c.805C>G,p.Q269E |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86565946C>T,c.823G>A,p.V275I |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86565882G>C,c.887C>G,p.S296C |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86565826C>G,c.943G>C,p.G315R |
| MTHFSD(NM_001159377,methenyltetrahydrofolate synthetase domain containing,383aa) | g.16:86565747G>A,c.1022C>T,p.P341L |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11863038G>A,c.136C>T,p.R46W |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11861223C>T,c.470G>A,p.R157Q |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11856378G>A,c.665C>T,p.A222V |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11856343C>T,c.700G>A,p.D234N |