| 基因名 | 突变 |
|---|---|
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112357498G>A,c.1255C>T,p.R419W |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112357368C>T,c.1385G>A,p.R462H |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112357336G>A,c.1417C>T,p.H473Y |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112357227T>C,c.1526A>G,p.K509R |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112356913C>T,c.1840G>A,p.D614N |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112349104G>A,c.1891C>T,p.P631S |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112328923C>T,c.2327G>A,p.R776Q |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112328836G>A,c.2414C>T,p.A805V |
| CCDC80(NM_199511,coiled-coil domain containing 80,950aa) | g.3:112324305A>G,c.2812T>C,p.Y938H |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32856746A>C,c.1346A>C,p.K449T |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32832249C>T,c.1015C>T,p.R339X |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32807434G>T,c.993+1G>T,p.331Donor |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32807381C>T,c.941C>T,p.S314L |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32780902A>C,c.849A>C,p.E283D |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32760133G>A,c.652G>A,p.V218M |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32760106C>T,c.625C>T,p.R209C |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32745248A>C,c.442A>C,p.K148Q |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32745192T>C,c.386T>C,p.M129T |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32740798_32740799insT,c.228_229insT,p.76fs |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32740643G>A,c.73G>A,p.G25R |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32740611C>T,c.41C>T,p.S14L |
| CCDC7(NM_145023,coiled-coil domain containing 7,486aa) | g.10:32740608A>G,c.38A>G,p.K13R |
| CCDC79(NM_001136505,coiled-coil domain containing 79,727aa) | g.16:66819751C>A,c.638G>T,p.C213F |
| CCDC79(NM_001136505,coiled-coil domain containing 79,727aa) | g.16:66819730C>T,c.659G>A,p.R220H |
| CCDC79(NM_001136505,coiled-coil domain containing 79,727aa) | g.16:66812872C>A,c.747G>T,p.L249F |
| CCDC79(NM_001136505,coiled-coil domain containing 79,727aa) | g.16:66804124C>T,c.1361G>A,p.R454Q |
| CCDC79(NM_001136505,coiled-coil domain containing 79,727aa) | g.16:66803965_66803966insC,c.1519_1520insG,p.507fs |
| CCDC79(NM_001136505,coiled-coil domain containing 79,727aa) | g.16:66792727G>C,c.1945C>G,p.P649A |