| 基因名 | 突变 |
|---|---|
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80085703G>T,c.2428C>A,p.Q810K |
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80085703G>C,c.2428C>G,p.Q810E |
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80085648C>G,c.2483G>C,p.G828A |
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80085633A>G,c.2498T>C,p.M833T |
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80059637C>T,c.2669G>A,p.G890E |
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80059628C>T,c.2678G>A,p.R893Q |
| CCDC57(NM_198082,coiled-coil domain containing 57,915aa) | g.17:80059596T>C,c.2710A>G,p.R904G |
| CCDC54(NM_032600,coiled-coil domain containing 54,328aa) | g.3:107097081_107097085del,c.647_651del,p.216fs |
| CCDC54(NM_032600,coiled-coil domain containing 54,328aa) | g.3:107097072T>C,c.638T>C,p.I213T |
| CCDC54(NM_032600,coiled-coil domain containing 54,328aa) | g.3:107096547G>A,c.113G>A,p.R38Q |
| CCDC53(NM_016053,coiled-coil domain containing 53,194aa) | g.12:102437959G>T,c.248C>A,p.T83K |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48476406C>T,c.133G>A,p.G45R |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48476261T>C,c.278A>G,p.N93S |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474561G>A,c.493C>T,p.R165C |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474545C>T,c.509G>A,p.R170H |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474284C>T,c.770G>A,p.R257H |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474258T>C,c.796A>G,p.M266V |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474086T>C,c.968A>G,p.Q323R |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474047C>T,c.1007G>A,p.G336E |
| CCDC51(NM_001256964,coiled-coil domain containing 51,411aa) | g.3:48474024C>T,c.1030G>A,p.A344T |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191107358C>T,c.1396C>T,p.R466W |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191098660A>G,c.1181A>G,p.K394R |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191098500G>A,c.1117G>A,p.A373T |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191097966T>C,c.995T>C,p.M332T |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191093310A>G,c.908A>G,p.K303R |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191093285G>T,c.883G>T,p.D295Y |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191093223G>A,c.821G>A,p.R274Q |
| CCDC50(NM_178335,coiled-coil domain containing 50,482aa) | g.3:191093175T>A,c.773T>A,p.I258N |