| 基因名 | 突变 |
|---|---|
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:417691C>G,c.755G>C,p.R252T |
| MRPL27(NM_016504,mitochondrial ribosomal protein L27,148aa) | g.17:48447918T>C,c.70A>G,p.T24A |
| MRPL27(NM_016504,mitochondrial ribosomal protein L27,148aa) | g.17:48445493G>A,c.407C>T,p.A136V |
| MRPL24(NM_145729,mitochondrial ribosomal protein L24,216aa) | g.1:156708460C>T,c.37G>A,p.V13I |
| MRPL24(NM_145729,mitochondrial ribosomal protein L24,216aa) | g.1:156708315G>A,c.182C>T,p.T61M |
| MRPL24(NM_145729,mitochondrial ribosomal protein L24,216aa) | g.1:156707553G>C,c.399C>G,p.I133M |
| MRPL24(NM_145729,mitochondrial ribosomal protein L24,216aa) | g.1:156707218C>T,c.623G>A,p.R208Q |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1977627G>C,c.439G>C,p.V147L |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1977613C>T,c.425C>T,p.P142L |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1977552G>A,c.364G>A,p.A122T |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1974029G>A,c.241G>A,p.D81N |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1972238C>T,c.127C>T,p.R43W |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1972229G>A,c.118G>A,p.V40M |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1972205G>A,c.94G>A,p.G32S |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1972199C>T,c.88C>T,p.R30W |
| MRPL23(NM_021134,mitochondrial ribosomal protein L23,153aa) | g.11:1972143G>A,c.32G>A,p.R11Q |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154346428C>T,c.592C>T,p.R198C |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154346296G>A,c.460G>A,p.G154S |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154346267G>A,c.431G>A,p.G144D |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154346263C>G,c.427C>G,p.R143G |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154339563G>A,c.363G>A,p.M121I |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154336747A>G,c.314A>G,p.K105R |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154330431G>A,c.128G>A,p.R43Q |
| MRPL22(NM_014180,mitochondrial ribosomal protein L22,206aa) | g.5:154320796C>G,c.48C>G,p.N16K |
| MRPL21(NM_181515,mitochondrial ribosomal protein L21,120aa) | g.11:68664068C>T,c.56G>A,p.R19H |
| MRPL20(NM_017971,mitochondrial ribosomal protein L20,149aa) | g.1:1341238C>T,c.227G>A,p.S76N |
| MRPL1(NM_020236,mitochondrial ribosomal protein L1,325aa) | g.4:78871021C>G,c.848C>G,p.P283R |
| MRPL1(NM_020236,mitochondrial ribosomal protein L1,325aa) | g.4:78830434G>C,c.685G>C,p.D229H |