| 基因名 | 突变 |
|---|---|
| DMKN(NM_033317,dermokine,476aa) | g.19:36002393C>T,c.838G>A,p.G280S |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002386C>T,c.845G>A,p.S282N |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002381C>T,c.850G>A,p.G284S |
| DMKN(NM_033317,dermokine,476aa) | g.19:35993778G>A,c.1145C>T,p.P382L |
| DMKN(NM_033317,dermokine,476aa) | g.19:35993069G>A,c.1208C>T,p.T403I |
| DMKN(NM_033317,dermokine,476aa) | g.19:35991478G>A,c.1244C>T,p.A415V |
| DMKN(NM_033317,dermokine,476aa) | g.19:35991442T>G,c.1280A>C,p.D427A |
| DMKN(NM_033317,dermokine,476aa) | g.19:35990867del,c.1352del,p.451fs |
| DMKN(NM_033317,dermokine,476aa) | g.19:35989800C>G,c.1360-1G>C,p.454Acceptor |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78365341A>G,c.101+2T>C,p.34Donor |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78351683G>A,c.325C>T,p.H109Y |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78351682T>C,c.326A>G,p.H109R |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78350022T>A,c.525A>T,p.L175F |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78347298T>C,c.557A>G,p.Y186C |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78347161C>T,c.694G>A,p.V232I |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78340286A>G,c.835T>C,p.S279P |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78340228T>G,c.893A>C,p.Y298S |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78340149C>T,c.972G>A,p.W324X |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78338202T>C,c.1097A>G,p.N366S |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78328625T>C,c.1402A>G,p.T468A |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78326810C>T,c.1529G>A,p.R510H |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78326750G>C,c.1589C>G,p.A530G |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78324361T>C,c.1927A>G,p.K643E |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78324352A>G,c.1936T>C,p.S646P |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78301220A>G,c.2261T>C,p.F754S |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78301172C>T,c.2309G>A,p.R770Q |
| DMGDH(NM_013391,dimethylglycine dehydrogenase,866aa) | g.5:78294073C>A,c.2433G>T,p.K811N |
| DMD(NM_004010,dystrophin,3562aa) | g.X:32827633A>G,c.257T>C,p.I86T |