| 基因名 | 突变 |
|---|---|
| MRPS23(NM_016070,mitochondrial ribosomal protein S23,190aa) | g.17:55918307G>A,c.400C>T,p.R134X |
| MRPS22(NM_020191,mitochondrial ribosomal protein S22,360aa) | g.3:139074583C>T,c.938C>T,p.S313L |
| MRPS22(NM_020191,mitochondrial ribosomal protein S22,360aa) | g.3:139071497C>G,c.741C>G,p.H247Q |
| MRPS22(NM_020191,mitochondrial ribosomal protein S22,360aa) | g.3:139069133C>T,c.617C>T,p.T206I |
| MRPS22(NM_020191,mitochondrial ribosomal protein S22,360aa) | g.3:139065830A>C,c.283A>C,p.I95L |
| MRPS21(NM_018997,mitochondrial ribosomal protein S21,87aa) | g.1:150280621T>G,c.223T>G,p.L75V |
| MRPS21(NM_018997,mitochondrial ribosomal protein S21,87aa) | g.1:150280580G>A,c.182G>A,p.R61Q |
| MRPS21(NM_018997,mitochondrial ribosomal protein S21,87aa) | g.1:150280550G>A,c.152G>A,p.R51Q |
| MRPS21(NM_018997,mitochondrial ribosomal protein S21,87aa) | g.1:150280546C>T,c.148C>T,p.R50C |
| MRPS18C(NM_016067,mitochondrial ribosomal protein S18C,142aa) | g.4:84377287G>C,c.57G>C,p.L19F |
| MRPS18B(NM_014046,mitochondrial ribosomal protein S18B,258aa) | g.6:30593528C>T,c.731C>T,p.A244V |
| MRPS18B(NM_014046,mitochondrial ribosomal protein S18B,258aa) | g.6:30593522C>T,c.725C>T,p.T242I |
| MRPS18B(NM_014046,mitochondrial ribosomal protein S18B,258aa) | g.6:30593485C>G,c.688C>G,p.P230A |
| MRPS18B(NM_014046,mitochondrial ribosomal protein S18B,258aa) | g.6:30587699G>A,c.287G>A,p.R96H |
| MRPS18A(NM_018135,mitochondrial ribosomal protein S18A,196aa) | g.6:43646286C>T,c.221G>A,p.R74H |
| MRPS18A(NM_018135,mitochondrial ribosomal protein S18A,196aa) | g.6:43642963G>C,c.422C>G,p.P141R |
| MRPS18A(NM_018135,mitochondrial ribosomal protein S18A,196aa) | g.6:43639518G>C,c.572C>G,p.P191R |
| MRPS17(NM_015969,mitochondrial ribosomal protein S17,130aa) | g.7:56022813C>T,c.335C>T,p.S112L |
| MRPS17(NM_015969,mitochondrial ribosomal protein S17,130aa) | g.7:56022810G>C,c.332G>C,p.S111T |
| MRPS17(NM_015969,mitochondrial ribosomal protein S17,130aa) | g.7:56022696G>A,c.218G>A,p.R73Q |
| MRPS17(NM_015969,mitochondrial ribosomal protein S17,130aa) | g.7:56022689G>A,c.211G>A,p.V71I |
| MRPS16(NM_016065,mitochondrial ribosomal protein S16,137aa) | g.10:75011761A>G,c.34T>C,p.Y12H |
| MRPS16(NM_016065,mitochondrial ribosomal protein S16,137aa) | g.10:75011736C>T,c.59G>A,p.R20H |
| MRPS16(NM_016065,mitochondrial ribosomal protein S16,137aa) | g.10:75011557C>T,c.238G>A,p.G80R |
| MRPS16(NM_016065,mitochondrial ribosomal protein S16,137aa) | g.10:75010635G>C,c.389C>G,p.T130R |
| MRPS15(NM_031280,mitochondrial ribosomal protein S15,257aa) | g.1:36929762C>T,c.115G>A,p.G39S |
| MRPS15(NM_031280,mitochondrial ribosomal protein S15,257aa) | g.1:36921924A>G,c.500T>C,p.L167P |
| MRPS15(NM_031280,mitochondrial ribosomal protein S15,257aa) | g.1:36921912C>A,c.512G>T,p.R171L |