| 基因名 | 突变 |
|---|---|
| MRPL55(NM_181462,mitochondrial ribosomal protein L55,164aa) | g.1:228294567C>T,c.389G>A,p.R130Q |
| MRPL54(NM_172251,mitochondrial ribosomal protein L54,138aa) | g.19:3767356C>T,c.382C>T,p.R128C |
| MRPL54(NM_172251,mitochondrial ribosomal protein L54,138aa) | g.19:3767338C>T,c.364C>T,p.R122W |
| MRPL54(NM_172251,mitochondrial ribosomal protein L54,138aa) | g.19:3762771G>A,c.73G>A,p.A25T |
| MRPL54(NM_172251,mitochondrial ribosomal protein L54,138aa) | g.19:3762750G>T,c.52G>T,p.A18S |
| MRPL53(NM_053050,mitochondrial ribosomal protein L53,112aa) | g.2:74699778C>A,c.10G>T,p.A4S |
| MRPL53(NM_053050,mitochondrial ribosomal protein L53,112aa) | g.2:74699715T>C,c.73A>G,p.K25E |
| MRPL53(NM_053050,mitochondrial ribosomal protein L53,112aa) | g.2:74699595G>T,c.95C>A,p.T32N |
| MRPL53(NM_053050,mitochondrial ribosomal protein L53,112aa) | g.2:74699584T>C,c.106A>G,p.T36A |
| MRPL53(NM_053050,mitochondrial ribosomal protein L53,112aa) | g.2:74699518C>A,c.172G>T,p.D58Y |
| MRPL51(NM_016497,mitochondrial ribosomal protein L51,128aa) | g.12:6601619G>A,c.205C>T,p.H69Y |
| MRPL50(NM_019051,mitochondrial ribosomal protein L50,158aa) | g.9:104153110C>T,c.115G>A,p.V39I |
| MRPL50(NM_019051,mitochondrial ribosomal protein L50,158aa) | g.9:104153052C>T,c.173G>A,p.R58Q |
| MRPL50(NM_019051,mitochondrial ribosomal protein L50,158aa) | g.9:104152846G>A,c.379C>T,p.L127F |
| MRPL50(NM_019051,mitochondrial ribosomal protein L50,158aa) | g.9:104152836T>C,c.389A>G,p.Y130C |
| MRPL4(NM_146388,mitochondrial ribosomal protein L4,263aa) | g.19:10369289C>T,c.667C>T,p.H223Y |
| MRPL4(NM_146388,mitochondrial ribosomal protein L4,263aa) | g.19:10363280C>T,c.178C>T,p.R60C |
| MRPL4(NM_146388,mitochondrial ribosomal protein L4,263aa) | g.19:10363251A>C,c.149A>C,p.K50T |
| MRPL4(NM_146388,mitochondrial ribosomal protein L4,263aa) | g.19:10363117C>A,c.102C>A,p.N34K |
| MRPL49(NM_004927,mitochondrial ribosomal protein L49,166aa) | g.11:64893213G>A,c.370G>A,p.V124M |
| MRPL49(NM_004927,mitochondrial ribosomal protein L49,166aa) | g.11:64893046C>A,c.316C>A,p.Q106K |
| MRPL49(NM_004927,mitochondrial ribosomal protein L49,166aa) | g.11:64892960_64892961insC,c.230_231insC,p.77fs |
| MRPL49(NM_004927,mitochondrial ribosomal protein L49,166aa) | g.11:64889843A>G,c.25A>G,p.T9A |
| MRPL48(NM_016055,mitochondrial ribosomal protein L48,212aa) | g.11:73536803G>A,c.163G>A,p.G55S |
| MRPL48(NM_016055,mitochondrial ribosomal protein L48,212aa) | g.11:73516109C>G,c.59C>G,p.A20G |
| MRPL47(NM_020409,mitochondrial ribosomal protein L47,250aa) | g.3:179322385A>C,c.28T>G,p.C10G |
| MRPL47(NM_020409,mitochondrial ribosomal protein L47,250aa) | g.3:179306775C>T,c.638G>A,p.R213H |
| MRPL47(NM_020409,mitochondrial ribosomal protein L47,250aa) | g.3:179306760C>T,c.653G>A,p.R218H |