| 基因名 | 突变 |
|---|---|
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34938362G>A,c.160G>A,p.G54S |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34938272C>G,c.70C>G,p.R24G |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34938269C>T,c.67C>T,p.R23C |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34938249A>C,c.47A>C,p.Y16S |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34938237G>C,c.35G>C,p.R12P |
| PDHB(NM_000925,pyruvate dehydrogenase (lipoamide) beta,359aa) | g.3:58417514G>A,c.211C>T,p.R71X |
| PDHB(NM_000925,pyruvate dehydrogenase (lipoamide) beta,359aa) | g.3:58415857T>C,c.698A>G,p.Q233R |
| PDHB(NM_000925,pyruvate dehydrogenase (lipoamide) beta,359aa) | g.3:58414293C>A,c.841G>T,p.A281S |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96762318G>C,c.1017G>C,p.E339D |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96762167G>C,c.866G>C,p.G289A |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96762158G>C,c.857G>C,p.R286P |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96762126G>C,c.825G>C,p.K275N |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96762012C>G,c.711C>G,p.S237R |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761807_96761808insC,c.506_507insC,p.169fs |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761546_96761547del,c.245_246del,p.82fs |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761533C>T,c.232C>T,p.Q78X |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761363T>A,c.62T>A,p.V21E |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761357G>T,c.56G>T,p.R19L |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761324G>A,c.23G>A,p.R8H |
| PDHA2(NM_005390,pyruvate dehydrogenase (lipoamide) alpha 2,388aa) | g.4:96761317A>T,c.16A>T,p.I6F |
| PDHA1(NM_001173454,pyruvate dehydrogenase (lipoamide) alpha 1,428aa) | g.X:19375782A>C,c.958A>C,p.M320L |
| PDHA1(NM_001173454,pyruvate dehydrogenase (lipoamide) alpha 1,428aa) | g.X:19364694G>A,c.124G>A,p.G42S |
| PDHA1(NM_001173454,pyruvate dehydrogenase (lipoamide) alpha 1,428aa) | g.X:19364644C>T,c.74C>T,p.T25M |
| PDGFRL(NM_006207,platelet-derived growth factor receptor-like,375aa) | g.8:17500300A>G,c.1118A>G,p.E373G |
| PDGFRL(NM_006207,platelet-derived growth factor receptor-like,375aa) | g.8:17500228C>T,c.1046C>T,p.T349M |
| PDGFRL(NM_006207,platelet-derived growth factor receptor-like,375aa) | g.8:17500162T>A,c.980T>A,p.I327N |
| PDGFRL(NM_006207,platelet-derived growth factor receptor-like,375aa) | g.8:17500131C>T,c.949C>T,p.P317S |
| PDGFRL(NM_006207,platelet-derived growth factor receptor-like,375aa) | g.8:17491616C>T,c.833C>T,p.A278V |