| 基因名 | 突变 |
|---|---|
| CCDC180(NM_020893,coiled-coil domain containing 180,1701aa) | g.9:100075521C>A,c.485C>A,p.P162H |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46088227G>C,c.853C>G,p.R285G |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46087577G>A,c.1058C>T,p.P353L |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46087320A>G,c.1174T>C,p.Y392H |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46087073C>T,c.1268G>A,p.R423H |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46086766C>T,c.1408G>A,p.V470I |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46086663C>G,c.1511G>C,p.R504P |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46086649G>A,c.1525C>T,p.R509C |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46086436T>C,c.1669A>G,p.I557V |
| CCDC17(NM_001114938,coiled-coil domain containing 17,622aa) | g.1:46086077C>T,c.1739G>A,p.S580N |
| CCDC179(NM_001195637,coiled-coil domain containing 179,68aa) | g.11:22881931C>T,c.37G>A,p.V13I |
| CCDC179(NM_001195637,coiled-coil domain containing 179,68aa) | g.11:22881002C>T,c.86G>A,p.R29Q |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30969588C>T,c.124G>A,p.A42T |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30969567G>T,c.145C>A,p.L49I |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30928852A>G,c.457+2T>C,p.153Donor |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30926228A>G,c.605T>C,p.I202T |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30903467A>G,c.1010T>C,p.I337T |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30847180C>T,c.1258G>A,p.D420N |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30846961G>A,c.1328C>T,p.S443F |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30846895A>T,c.1394T>A,p.V465E |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30825388G>A,c.1414C>T,p.R472W |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30825245C>G,c.1557G>C,p.M519I |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30804860C>T,c.1697G>A,p.R566Q |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30804758A>C,c.1799T>G,p.L600R |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30804756C>T,c.1801G>A,p.D601N |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30803145T>G,c.1857A>C,p.R619S |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30803117A>T,c.1885T>A,p.L629I |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30803113C>T,c.1889G>A,p.R630Q |