| 基因名 | 突变 |
|---|---|
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11856286C>T,c.757G>A,p.V253I |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11855333C>T,c.853G>A,p.E285K |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11855279C>T,c.907G>A,p.V303M |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11854476T>G,c.1286A>C,p.E429A |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11854457G>A,c.1305C>T,p.F435F |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11854125C>G,c.1369G>C,p.D457H |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11851296C>T,c.1720G>A,p.V574I |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11850927C>T,c.1781G>A,p.R594Q |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11850776G>T,c.1932C>A,p.N644K |
| MTHFR(NM_005957,methylenetetrahydrofolate reductase (NAD(P)H),656aa) | g.1:11850750G>A,c.1958C>T,p.T653M |
| MTHFD2(NM_006636,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase,350aa) | g.2:74435838C>G,c.552C>G,p.I184M |
| MTHFD2(NM_006636,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase,350aa) | g.2:74425769A>G,c.1A>G,p.M1V |
| MTHFD2L(NM_001144978,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like,347aa) | g.4:75147228A>C,c.892A>C,p.T298P |
| MTHFD2L(NM_001144978,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like,347aa) | g.4:75147198G>A,c.862G>A,p.V288M |
| MTHFD2L(NM_001144978,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like,347aa) | g.4:75067064A>C,c.689A>C,p.D230A |
| MTHFD2L(NM_001144978,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like,347aa) | g.4:75065541G>A,c.482G>A,p.G161E |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64924959C>T,c.2746C>T,p.R916W |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64916188C>T,c.2305C>T,p.L769F |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64916165C>T,c.2282C>T,p.T761M |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64908845G>A,c.1958G>A,p.R653Q |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64892879C>T,c.1096C>T,p.R366W |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64892742T>C,c.959T>C,p.I320T |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64892470G>A,c.878G>A,p.R293H |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64882380A>G,c.401A>G,p.K134R |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64867578C>T,c.109C>T,p.R37C |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64867578C>A,c.109C>A,p.R37S |
| MTHFD1(NM_005956,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate syntheta | g.14:64867522C>T,c.53C>T,p.A18V |
| MTHFD1L(NM_001242767,methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like,979aa) | g.6:151358222G>A,c.2819G>A,p.G940D |