| 基因名 | 突变 |
|---|---|
| MRPL1(NM_020236,mitochondrial ribosomal protein L1,325aa) | g.4:78804560T>C,c.308T>C,p.V103A |
| MRPL1(NM_020236,mitochondrial ribosomal protein L1,325aa) | g.4:78784013C>G,c.11C>G,p.A4G |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75882376A>G,c.844A>G,p.I282V |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75882248A>G,c.716A>G,p.N239S |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75882212A>T,c.680A>T,p.K227M |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75881930C>T,c.544C>T,p.R182W |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75879663G>A,c.355G>A,p.V119I |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75879359G>A,c.313G>A,p.V105I |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75874015C>G,c.82C>G,p.P28A |
| MRPL19(NM_014763,mitochondrial ribosomal protein L19,292aa) | g.2:75873970A>G,c.37A>G,p.M13V |
| MRPL18(NM_014161,mitochondrial ribosomal protein L18,180aa) | g.6:160219091G>A,c.479G>A,p.R160Q |
| MRPL18(NM_014161,mitochondrial ribosomal protein L18,180aa) | g.6:160211649G>C,c.30G>C,p.L10F |
| MRPL18(NM_014161,mitochondrial ribosomal protein L18,180aa) | g.6:160211648T>G,c.29T>G,p.L10W |
| MRPL18(NM_014161,mitochondrial ribosomal protein L18,180aa) | g.6:160211646_160211648del,c.27_29del,p.9_10del |
| MRPL18(NM_014161,mitochondrial ribosomal protein L18,180aa) | g.6:160211636G>A,c.17G>A,p.R6Q |
| MRPL17(NM_022061,mitochondrial ribosomal protein L17,175aa) | g.11:6704036T>C,c.185A>G,p.Y62C |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59575316G>A,c.128C>T,p.S43F |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59574247T>C,c.329A>G,p.N110S |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59574178C>T,c.398G>A,p.R133H |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59574136A>G,c.440T>C,p.I147T |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59573999C>T,c.577G>A,p.G193R |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59573980C>T,c.596G>A,p.R199Q |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59573957G>A,c.619C>T,p.R207C |
| MRPL16(NM_017840,mitochondrial ribosomal protein L16,251aa) | g.11:59573896C>T,c.680G>A,p.R227Q |
| MRPL15(NM_014175,mitochondrial ribosomal protein L15,296aa) | g.8:55060193C>T,c.805C>T,p.L269F |
| MRPL15(NM_014175,mitochondrial ribosomal protein L15,296aa) | g.8:55055266T>C,c.473T>C,p.L158S |
| MRPL15(NM_014175,mitochondrial ribosomal protein L15,296aa) | g.8:55049887G>A,c.323G>A,p.G108D |
| MRPL15(NM_014175,mitochondrial ribosomal protein L15,296aa) | g.8:55049131A>G,c.169A>G,p.R57G |