| 基因名 | 突变 |
|---|---|
| ME3(NM_001161586,malic enzyme 3, NADP(+)-dependent, mitochondrial,604aa) | g.11:86219842T>G,c.535A>C,p.N179H |
| ME3(NM_001161586,malic enzyme 3, NADP(+)-dependent, mitochondrial,604aa) | g.11:86161388C>G,c.972G>C,p.K324N |
| ME3(NM_001161586,malic enzyme 3, NADP(+)-dependent, mitochondrial,604aa) | g.11:86158235C>T,c.1252G>A,p.A418T |
| ME3(NM_001161586,malic enzyme 3, NADP(+)-dependent, mitochondrial,604aa) | g.11:86157526G>A,c.1384C>T,p.R462X |
| ME3(NM_001161586,malic enzyme 3, NADP(+)-dependent, mitochondrial,604aa) | g.11:86157403C>T,c.1507G>A,p.G503S |
| ME2(NM_002396,malic enzyme 2, NAD(+)-dependent, mitochondrial,584aa) | g.18:48458662G>A,c.1349G>A,p.G450E |
| ME2(NM_002396,malic enzyme 2, NAD(+)-dependent, mitochondrial,584aa) | g.18:48452240C>T,c.1286C>T,p.T429M |
| ME2(NM_002396,malic enzyme 2, NAD(+)-dependent, mitochondrial,584aa) | g.18:48447522A>G,c.1021A>G,p.I341V |
| ME2(NM_002396,malic enzyme 2, NAD(+)-dependent, mitochondrial,584aa) | g.18:48447483G>T,c.982G>T,p.V328L |
| ME2(NM_002396,malic enzyme 2, NAD(+)-dependent, mitochondrial,584aa) | g.18:48447462A>C,c.961A>C,p.N321H |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:84140660G>A,c.14C>T,p.A5V |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:84108200T>A,c.248A>T,p.E83V |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:84108095C>T,c.353G>A,p.R118Q |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:84108085C>T,c.362+1G>A,p.121Donor |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:84056028C>T,c.464G>A,p.R155H |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:84025039C>T,c.694G>A,p.V232I |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:83963416T>C,c.746A>G,p.N249S |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:83963401C>T,c.761G>A,p.R254H |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:83963383C>T,c.779G>A,p.R260Q |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:83947458T>G,c.1004A>C,p.D335A |
| ME1(NM_002395,malic enzyme 1, NADP(+)-dependent, cytosolic,572aa) | g.6:83933609G>A,c.1319C>T,p.T440I |
| MDP1(NM_001199822,magnesium-dependent phosphatase 1,137aa) | g.14:24684777G>A,c.190C>T,p.P64S |
| MDN1(NM_014611,MDN1, midasin homolog (yeast),5596aa) | g.6:90529259C>T,c.68G>A,p.S23N |
| MDN1(NM_014611,MDN1, midasin homolog (yeast),5596aa) | g.6:90504432G>A,c.418C>T,p.R140C |
| MDN1(NM_014611,MDN1, midasin homolog (yeast),5596aa) | g.6:90504371T>C,c.479A>G,p.Q160R |
| MDN1(NM_014611,MDN1, midasin homolog (yeast),5596aa) | g.6:90500117C>T,c.859G>A,p.G287S |
| MDN1(NM_014611,MDN1, midasin homolog (yeast),5596aa) | g.6:90500023G>A,c.953C>T,p.A318V |
| MDN1(NM_014611,MDN1, midasin homolog (yeast),5596aa) | g.6:90499985T>C,c.991A>G,p.I331V |