| 基因名 | 突变 |
|---|---|
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:60027862C>G,c.928G>C,p.D310H |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:60005463A>T,c.1451T>A,p.I484N |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:60004844C>T,c.1520G>A,p.G507E |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59992098T>G,c.1897A>C,p.K633Q |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59988340G>A,c.2050C>T,p.L684F |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59988324C>T,c.2066G>A,p.S689N |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59988312C>T,c.2078G>A,p.R693Q |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59978507A>C,c.2113T>G,p.L705V |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59977385C>T,c.2284G>A,p.E762K |
| CCDC175(NM_001164399,coiled-coil domain containing 175,793aa) | g.14:59972024_59972026del,c.2313_2315del,p.771_772del |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14712693G>A,c.1396G>A,p.V466M |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14712448C>T,c.1151C>T,p.A384V |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14709647T>C,c.911T>C,p.M304T |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14708976A>C,c.770A>C,p.K257T |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14708427G>A,c.697G>A,p.V233I |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14706566C>T,c.517C>T,p.R173W |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14703205G>A,c.476G>A,p.S159N |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14703184T>G,c.455T>G,p.I152S |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14703094G>A,c.365G>A,p.R122H |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14696032A>G,c.142A>G,p.N48D |
| CCDC174(NM_016474,coiled-coil domain containing 174,467aa) | g.3:14693350C>T,c.7C>T,p.R3C |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170531129G>A,c.619C>T,p.R207X |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170510651C>T,c.893G>A,p.R298K |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170510627C>T,c.917G>A,p.R306H |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170506917T>A,c.1074A>T,p.E358D |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170505822T>C,c.1187A>G,p.K396R |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170505754C>G,c.1255G>C,p.E419Q |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170502415T>C,c.1595A>G,p.Y532C |