| 基因名 | 突变 |
|---|---|
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151358219T>C,c.2816T>C,p.I939T |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151358194C>A,c.2791C>A,p.P931T |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151336663G>A,c.2423G>A,p.R808H |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151331086G>A,c.2260G>A,p.G754R |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151281463C>T,c.1859C>T,p.T620M |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151281426G>A,c.1822G>A,p.A608T |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151270231G>A,c.1691G>A,p.R564H |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151270181T>A,c.1641T>A,p.N547K |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151266634A>G,c.1583A>G,p.N528S |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151265686C>T,c.1508C>T,p.A503V |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151247371G>A,c.1199G>A,p.R400H |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151247311A>G,c.1139A>G,p.K380R |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151203901A>G,c.421A>G,p.I141V |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60776027C>T,c.1115C>T,p.A372V |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60775922C>T,c.1010C>T,p.A337V |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60775823G>A,c.911G>A,p.R304H |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60775795G>A,c.883G>A,p.A295T |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60774305A>C,c.818A>C,p.Q273P |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60774274G>A,c.787G>A,p.V263I |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60774273C>A,c.786C>A,p.H262Q |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60774188A>G,c.701A>G,p.N234S |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60773022G>A,c.467G>A,p.R156Q |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60770993G>A,c.340G>A,p.V114I |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60770942C>T,c.289C>T,p.R97C |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60770931A>G,c.278A>G,p.H93R |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60768615G>A,c.139G>A,p.G47S |
| MTG2(NM_015666,mitochondrial ribosome-associated GTPase 2,406aa) | g.20:60768573C>T,c.97C>T,p.R33W |
| MTG1(NM_138384,mitochondrial ribosome-associated GTPase 1,334aa) | g.10:135233664C>T,c.1000C>T,p.P334S |