| 基因名 | 突变 |
|---|---|
| MRPL37(NM_016491,mitochondrial ribosomal protein L37,423aa) | g.1:54666074C>T,c.158C>T,p.P53L |
| MRPL36(NM_032479,mitochondrial ribosomal protein L36,103aa) | g.5:1799013G>C,c.37C>G,p.L13V |
| MRPL36(NM_032479,mitochondrial ribosomal protein L36,103aa) | g.5:1799001T>G,c.49A>C,p.S17R |
| MRPL35(NM_016622,mitochondrial ribosomal protein L35,188aa) | g.2:86437771C>T,c.547C>T,p.R183X |
| MRPL35(NM_016622,mitochondrial ribosomal protein L35,188aa) | g.2:86434316G>A,c.244G>A,p.V82M |
| MRPL35(NM_016622,mitochondrial ribosomal protein L35,188aa) | g.2:86433240C>T,c.55C>T,p.P19S |
| MRPL34(NM_023937,mitochondrial ribosomal protein L34,92aa) | g.19:17417168C>A,c.259C>A,p.R87S |
| MRPL34(NM_023937,mitochondrial ribosomal protein L34,92aa) | g.19:17417130C>T,c.221C>T,p.A74V |
| MRPL32(NM_031903,mitochondrial ribosomal protein L32,188aa) | g.7:42977137C>T,c.529C>T,p.R177X |
| MRPL32(NM_031903,mitochondrial ribosomal protein L32,188aa) | g.7:42974694C>T,c.271C>T,p.R91W |
| MRPL32(NM_031903,mitochondrial ribosomal protein L32,188aa) | g.7:42974614G>T,c.191G>T,p.G64V |
| MRPL30(NM_145212,mitochondrial ribosomal protein L30,161aa) | g.2:99812070G>A,c.388G>A,p.A130T |
| MRPL30(NM_145212,mitochondrial ribosomal protein L30,161aa) | g.2:99811314G>A,c.233G>A,p.R78H |
| MRPL30(NM_145212,mitochondrial ribosomal protein L30,161aa) | g.2:99811250G>A,c.169G>A,p.G57S |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43025971T>C,c.97A>G,p.M33V |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43025916C>T,c.152G>A,p.R51H |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43024060C>T,c.389G>A,p.R130H |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43023918G>C,c.421C>G,p.L141V |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43023850G>C,c.489C>G,p.I163M |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43022209C>T,c.721G>A,p.V241I |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43022145C>G,c.785G>C,p.R262P |
| MRPL2(NM_015950,mitochondrial ribosomal protein L2,305aa) | g.6:43022095C>G,c.835G>C,p.G279R |
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:420208T>C,c.11A>G,p.H4R |
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:420140G>A,c.79C>T,p.H27Y |
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:420079C>T,c.140G>A,p.G47E |
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:418597G>C,c.480C>G,p.D160E |
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:417759G>C,c.687C>G,p.I229M |
| MRPL28(NM_006428,mitochondrial ribosomal protein L28,256aa) | g.16:417757T>C,c.689A>G,p.Y230C |