| 基因名 | 突变 |
|---|---|
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30795577T>C,c.2015A>G,p.N672S |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30795529G>A,c.2063C>T,p.T688I |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30791889C>G,c.2209G>C,p.V737L |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30672840C>T,c.2273G>A,p.R758H |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30672840C>A,c.2273G>T,p.R758L |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30672771T>C,c.2342A>G,p.Y781C |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30554573T>C,c.2461A>G,p.M821V |
| CCDC178(NM_001105528,coiled-coil domain containing 178,867aa) | g.18:30517995T>C,c.2584A>G,p.T862A |
| CCDC177(NM_001271507,coiled-coil domain containing 177,707aa) | g.14:70039881C>G,c.459G>C,p.E153D |
| CCDC177(NM_001271507,coiled-coil domain containing 177,707aa) | g.14:70039804_70039809del,c.531_536del,p.177_179del |
| CCDC177(NM_001271507,coiled-coil domain containing 177,707aa) | g.14:70039804_70039806del,c.534_536del,p.178_179del |
| CCDC177(NM_001271507,coiled-coil domain containing 177,707aa) | g.14:70039475G>T,c.865C>A,p.R289S |
| CCDC177(NM_001271507,coiled-coil domain containing 177,707aa) | g.14:70039442C>T,c.898G>A,p.G300S |
| CCDC177(NM_001271507,coiled-coil domain containing 177,707aa) | g.14:70038292C>T,c.2048G>A,p.R683H |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74523869A>G,c.1486A>G,p.K496E |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74516891G>A,c.1279G>A,p.E427K |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74516621A>G,c.1009A>G,p.M337V |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74516434G>T,c.822G>T,p.K274N |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74514758C>A,c.773C>A,p.T258N |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74514674A>T,c.689A>T,p.D230V |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74489847G>A,c.285G>A,p.M95I |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74489815C>A,c.253C>A,p.L85M |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74489735G>A,c.173G>A,p.R58Q |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74489695G>T,c.133G>T,p.V45F |
| CCDC176(NM_025057,coiled-coil domain containing 176,529aa) | g.14:74489687G>A,c.125G>A,p.R42K |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:60039435T>G,c.340A>C,p.K114Q |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:60034964C>T,c.490G>A,p.G164R |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:60027907C>T,c.883G>A,p.E295K |