| 基因名 | 突变 |
|---|---|
| MTRR(NM_002454,5-methyltetrahydrofolate-homocysteine methyltransferase reductase,698aa) | g.5:7870973A>G,c.66A>G,p.I22M |
| MTRNR2L9(NM_001190706,MT-RNR2-like 9 (pseudogene),24aa) | g.6:62284240G>A,c.8G>A,p.R3Q |
| MTRNR2L5(NM_001190478,MT-RNR2-like 5,24aa) | g.10:57359697C>T,c.38C>T,p.T13I |
| MTRNR2L3(NM_001190472,MT-RNR2-like 3,24aa) | g.20:55934083T>C,c.13A>G,p.R5G |
| MTRNR2L2(NM_001190470,MT-RNR2-like 2,28aa) | g.5:79945875G>A,c.31C>T,p.L11F |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237060372A>G,c.3665A>G,p.N1222S |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237058835A>G,c.3583A>G,p.I1195V |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237057732C>T,c.3280C>T,p.R1094C |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237054504C>T,c.3079C>T,p.R1027W |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237048500A>G,c.2756A>G,p.D919G |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237024498A>G,c.2117A>G,p.N706S |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237024476A>G,c.2095A>G,p.K699E |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:237013670A>T,c.1542A>T,p.R514S |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:236990141G>A,c.940G>A,p.D314N |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:236976094G>A,c.559G>A,p.G187R |
| MTR(NM_000254,5-methyltetrahydrofolate-homocysteine methyltransferase,1265aa) | g.1:236966848G>A,c.155G>A,p.R52Q |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41835039T>C,c.5A>G,p.N2S |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41834834C>T,c.210G>A,p.W70X |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41834703G>A,c.341C>T,p.A114V |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41814545C>T,c.722G>A,p.R241Q |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41814531C>T,c.736G>A,p.G246S |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41814520C>A,c.747G>T,p.K249N |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41808097C>T,c.917G>A,p.R306Q |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41800644C>T,c.1049G>A,p.R350H |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41800596C>T,c.1097G>A,p.R366H |
| MTRF1(NM_004294,mitochondrial translational release factor 1,445aa) | g.13:41797486C>G,c.1130G>C,p.G377A |
| MTRF1L(NM_019041,mitochondrial translational release factor 1-like,380aa) | g.6:153323786C>A,c.35G>T,p.W12L |
| MTRF1L(NM_019041,mitochondrial translational release factor 1-like,380aa) | g.6:153323709T>C,c.112A>G,p.T38A |