| 基因名 | 突变 |
|---|---|
| SLC25A33(NM_032315,solute carrier family 25 (pyrimidine nucleotide carrier), member 33,321aa) | g.1:9642548C>T,c.955C>T,p.R319C |
| SLC25A33(NM_032315,solute carrier family 25 (pyrimidine nucleotide carrier), member 33,321aa) | g.1:9642432G>A,c.839G>A,p.R280Q |
| SLC25A33(NM_032315,solute carrier family 25 (pyrimidine nucleotide carrier), member 33,321aa) | g.1:9642390C>G,c.797C>G,p.T266S |
| SLC25A32(NM_030780,solute carrier family 25 (mitochondrial folate carrier), member 32,315aa) | g.8:104417045C>T,c.350G>A,p.R117H |
| SLC25A32(NM_030780,solute carrier family 25 (mitochondrial folate carrier), member 32,315aa) | g.8:104417034T>C,c.361A>G,p.T121A |
| SLC25A32(NM_030780,solute carrier family 25 (mitochondrial folate carrier), member 32,315aa) | g.8:104415456T>C,c.488A>G,p.Y163C |
| SLC25A32(NM_030780,solute carrier family 25 (mitochondrial folate carrier), member 32,315aa) | g.8:104415406G>A,c.538C>T,p.R180C |
| SLC25A32(NM_030780,solute carrier family 25 (mitochondrial folate carrier), member 32,315aa) | g.8:104412761C>T,c.826G>A,p.G276S |
| SLC25A32(NM_030780,solute carrier family 25 (mitochondrial folate carrier), member 32,315aa) | g.8:104412688T>C,c.899A>G,p.Y300C |
| SLC25A31(NM_031291,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31,315aa) | g.4:128694626G>A,c.845G>A,p.R282H |
| SLC25A31(NM_031291,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31,315aa) | g.4:128694615T>A,c.834T>A,p.S278R |
| SLC25A31(NM_031291,solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31,315aa) | g.4:128651726A>G,c.26A>G,p.K9R |
| SLC25A30(NM_001010875,solute carrier family 25, member 30,291aa) | g.13:45978486A>C,c.369T>G,p.I123M |
| SLC25A30(NM_001010875,solute carrier family 25, member 30,291aa) | g.13:45973125G>A,c.703C>T,p.R235X |
| SLC25A30(NM_001010875,solute carrier family 25, member 30,291aa) | g.13:45970147A>G,c.838T>C,p.F280L |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140683320T>G,c.113A>C,p.Q38P |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140683054T>C,c.379A>G,p.T127A |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140682958C>A,c.475G>T,p.G159C |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140682929_140682937del,c.496_504del,p.166_168del |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140682891A>C,c.542T>G,p.V181G |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140682757C>T,c.676G>A,p.V226I |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140682655C>A,c.778G>T,p.E260X |
| SLC25A2(NM_031947,solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2,301aa) | g.5:140682543T>C,c.890A>G,p.Q297R |
| SLC25A29(NM_001039355,solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29,303aa) | g.14:100759690C>T,c.103G>A,p.E35K |
| SLC25A29(NM_001039355,solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29,303aa) | g.14:100759090G>A,c.442C>T,p.R148C |
| SLC25A28(NM_031212,solute carrier family 25 (mitochondrial iron transporter), member 28,364aa) | g.10:101372305G>A,c.572C>T,p.A191V |
| SLC25A27(NM_004277,solute carrier family 25, member 27,323aa) | g.6:46638864G>A,c.799G>A,p.G267R |
| SLC25A27(NM_004277,solute carrier family 25, member 27,323aa) | g.6:46632594T>C,c.590T>C,p.I197T |