| 基因名 | 突变 |
|---|---|
| GTPBP3(NM_133644,GTP binding protein 3 (mitochondrial),524aa) | g.19:17448860G>A,c.97G>A,p.G33S |
| GTPBP2(NM_019096,GTP binding protein 2,602aa) | g.6:43596838A>G,c.62T>C,p.V21A |
| GTPBP2(NM_019096,GTP binding protein 2,602aa) | g.6:43596814C>G,c.86G>C,p.G29A |
| GTPBP2(NM_019096,GTP binding protein 2,602aa) | g.6:43589493C>T,c.1667G>A,p.R556H |
| GTPBP1(NM_004286,GTP binding protein 1,669aa) | g.22:39126657G>A,c.1958G>A,p.R653H |
| GTPBP1(NM_004286,GTP binding protein 1,669aa) | g.22:39125549C>T,c.1799C>T,p.T600M |
| GTPBP1(NM_004286,GTP binding protein 1,669aa) | g.22:39112062G>A,c.455G>A,p.R152Q |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:90014408G>A,c.1104G>A,p.M368I |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:90001521C>A,c.517C>A,p.P173T |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:90001496G>C,c.492G>C,p.L164F |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:89984511A>G,c.431A>G,p.D144G |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:89984409A>G,c.329A>G,p.N110S |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:89983819T>C,c.275T>C,p.V92A |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:89983808T>G,c.264T>G,p.C88W |
| GTPBP10(NM_033107,GTP-binding protein 10 (putative),387aa) | g.7:89982286C>T,c.190C>T,p.R64W |
| GTF3C6(NM_138408,general transcription factor IIIC, polypeptide 6, alpha 35kDa,213aa) | g.6:111288941T>C,c.590T>C,p.I197T |
| GTF3C6(NM_138408,general transcription factor IIIC, polypeptide 6, alpha 35kDa,213aa) | g.6:111280027G>A,c.55G>A,p.E19K |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135933324G>T,c.1538G>T,p.G513V |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135933206T>C,c.1420T>C,p.F474L |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135932280C>T,c.1399C>T,p.R467C |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135932235G>A,c.1354G>A,p.D452N |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135930346C>A,c.1183C>A,p.L395M |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135930344C>T,c.1181C>T,p.T394I |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135930153C>T,c.1124C>T,p.T375M |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135926340G>A,c.743G>A,p.R248Q |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135926324A>G,c.727A>G,p.T243A |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135926241A>G,c.644A>G,p.N215S |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135919273G>A,c.532G>A,p.A178T |