| 基因名 | 突变 |
|---|---|
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138395456C>T,c.368C>T,p.T123M |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138392955C>T,c.155C>T,p.S52L |
| MRPS2(NM_016034,mitochondrial ribosomal protein S2,296aa) | g.9:138392889C>A,c.89C>A,p.T30N |
| MRPS28(NM_014018,mitochondrial ribosomal protein S28,187aa) | g.8:80942341C>G,c.143G>C,p.R48P |
| MRPS28(NM_014018,mitochondrial ribosomal protein S28,187aa) | g.8:80942288C>T,c.196G>A,p.V66M |
| MRPS28(NM_014018,mitochondrial ribosomal protein S28,187aa) | g.8:80915322G>A,c.307C>T,p.R103W |
| MRPS28(NM_014018,mitochondrial ribosomal protein S28,187aa) | g.8:80915262C>A,c.367G>T,p.V123L |
| MRPS28(NM_014018,mitochondrial ribosomal protein S28,187aa) | g.8:80831357C>T,c.422G>A,p.R141Q |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71609959A>G,c.100T>C,p.Y34H |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71609943T>C,c.116A>G,p.K39R |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71591395G>A,c.244C>T,p.R82W |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71533898del,c.339del,p.113fs |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71528272T>G,c.589A>C,p.S197R |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71524160C>G,c.627G>C,p.L209F |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71524104T>C,c.683A>G,p.Y228C |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71521964G>A,c.757C>T,p.P253S |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71519664C>T,c.851G>A,p.G284D |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71519602C>T,c.913G>A,p.E305K |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71516912T>C,c.1069A>G,p.T357A |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71516815A>C,c.1166T>G,p.L389W |
| MRPS27(NM_015084,mitochondrial ribosomal protein S27,414aa) | g.5:71516795G>C,c.1186C>G,p.Q396E |
| MRPS24(NM_032014,mitochondrial ribosomal protein S24,167aa) | g.7:43908950G>A,c.65C>T,p.P22L |
| MRPS24(NM_032014,mitochondrial ribosomal protein S24,167aa) | g.7:43906513A>G,c.289T>C,p.W97R |
| MRPS23(NM_016070,mitochondrial ribosomal protein S23,190aa) | g.17:55927331G>A,c.41C>T,p.S14F |
| MRPS23(NM_016070,mitochondrial ribosomal protein S23,190aa) | g.17:55926691C>T,c.125G>A,p.R42K |
| MRPS23(NM_016070,mitochondrial ribosomal protein S23,190aa) | g.17:55926640G>T,c.176C>A,p.P59H |
| MRPS23(NM_016070,mitochondrial ribosomal protein S23,190aa) | g.17:55926611G>A,c.205C>T,p.R69W |
| MRPS23(NM_016070,mitochondrial ribosomal protein S23,190aa) | g.17:55918596C>T,c.241G>A,p.G81S |