| 基因名 | 突变 |
|---|---|
| COQ4(NM_016035,coenzyme Q4 homolog (S. cerevisiae),265aa) | g.9:131088134G>A,c.376G>A,p.E126K |
| COQ4(NM_016035,coenzyme Q4 homolog (S. cerevisiae),265aa) | g.9:131085373G>C,c.149G>C,p.G50A |
| COQ4(NM_016035,coenzyme Q4 homolog (S. cerevisiae),265aa) | g.9:131085196G>A,c.59G>A,p.R20Q |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99831610G>A,c.197C>T,p.T66M |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99828206G>A,c.245C>T,p.A82V |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99828093T>C,c.358A>G,p.M120V |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99825348T>C,c.400A>G,p.K134E |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99823941C>T,c.604G>A,p.V202M |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99819379T>C,c.814A>G,p.S272G |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99819306G>A,c.887C>T,p.S296L |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99817601A>G,c.985T>C,p.Y329H |
| COQ3(NM_017421,coenzyme Q3 methyltransferase,369aa) | g.6:99817491T>A,c.1095A>T,p.E365D |
| COQ2(NM_015697,coenzyme Q2 4-hydroxybenzoate polyprenyltransferase,421aa) | g.4:84206004T>A,c.64A>T,p.R22X |
| COQ2(NM_015697,coenzyme Q2 4-hydroxybenzoate polyprenyltransferase,421aa) | g.4:84205995A>C,c.73T>G,p.L25V |
| COQ2(NM_015697,coenzyme Q2 4-hydroxybenzoate polyprenyltransferase,421aa) | g.4:84205872C>A,c.196G>T,p.V66L |
| COQ2(NM_015697,coenzyme Q2 4-hydroxybenzoate polyprenyltransferase,421aa) | g.4:84200204A>G,c.467T>C,p.F156S |
| COQ2(NM_015697,coenzyme Q2 4-hydroxybenzoate polyprenyltransferase,421aa) | g.4:84185440A>G,c.1178T>C,p.V393A |
| COQ10B(NM_025147,coenzyme Q10 homolog B (S. cerevisiae),238aa) | g.2:198338605A>G,c.674A>G,p.N225S |
| COQ10B(NM_025147,coenzyme Q10 homolog B (S. cerevisiae),238aa) | g.2:198334842C>T,c.496C>T,p.R166C |
| COQ10B(NM_025147,coenzyme Q10 homolog B (S. cerevisiae),238aa) | g.2:198318336C>G,c.52C>G,p.R18G |
| COQ10B(NM_025147,coenzyme Q10 homolog B (S. cerevisiae),238aa) | g.2:198318298C>T,c.14C>T,p.T5I |
| COQ10A(NM_144576,coenzyme Q10 homolog A (S. cerevisiae),247aa) | g.12:56663344C>T,c.575C>T,p.S192L |
| COQ10A(NM_144576,coenzyme Q10 homolog A (S. cerevisiae),247aa) | g.12:56663322C>T,c.553C>T,p.R185X |
| COQ10A(NM_144576,coenzyme Q10 homolog A (S. cerevisiae),247aa) | g.12:56660905G>T,c.3G>T,p.M1I |
| COPZ1(NM_001271736,coatomer protein complex, subunit zeta 1,185aa) | g.12:54734344A>G,c.56A>G,p.Y19C |
| COPZ1(NM_001271736,coatomer protein complex, subunit zeta 1,185aa) | g.12:54734289A>G,c.1A>G,p.M1V |
| COPS8(NM_198189,COP9 signalosome subunit 8,160aa) | g.2:238002837A>G,c.289A>G,p.K97E |
| COPS7B(NM_022730,COP9 signalosome subunit 7B,264aa) | g.2:232663646A>G,c.608A>G,p.N203S |