| 基因名 | 突变 |
|---|---|
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132290251C>T,c.773C>T,p.P258L |
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132288362T>C,c.506T>C,p.M169T |
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132288338G>A,c.482G>A,p.R161H |
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132288332C>T,c.476C>T,p.T159I |
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132288314C>T,c.458C>T,p.A153V |
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132288277C>T,c.421C>T,p.R141W |
| CCDC74A(NM_138770,coiled-coil domain containing 74A,378aa) | g.2:132288220G>C,c.364G>C,p.G122R |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32781773T>C,c.17A>G,p.N6S |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32674757A>G,c.851T>C,p.F284S |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32674734G>A,c.874C>T,p.R292W |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32637635G>C,c.1226C>G,p.T409S |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32637552C>T,c.1309G>A,p.D437N |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32636418A>C,c.1446T>G,p.S482R |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32636188T>C,c.1676A>G,p.D559G |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32635220C>T,c.2644G>A,p.G882R |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32635096C>A,c.2768G>T,p.S923I |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32635079A>C,c.2785T>G,p.S929A |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32632726C>A,c.2982G>T,p.K994N |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32624548T>A,c.3049A>T,p.I1017L |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32624508G>A,c.3089C>T,p.T1030M |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32624498_32624499insT,c.3098_3099insA,p.1033fs |
| CCDC73(NM_001008391,coiled-coil domain containing 73,1079aa) | g.11:32624385G>A,c.3212C>T,p.T1071M |
| CCDC71(NM_022903,coiled-coil domain containing 71,467aa) | g.3:49201533T>C,c.109A>G,p.M37V |
| CCDC71(NM_022903,coiled-coil domain containing 71,467aa) | g.3:49201323T>C,c.319A>G,p.M107V |
| CCDC71(NM_022903,coiled-coil domain containing 71,467aa) | g.3:49201074G>A,c.568C>T,p.P190S |
| CCDC71(NM_022903,coiled-coil domain containing 71,467aa) | g.3:49201053T>C,c.589A>G,p.K197E |
| CCDC71(NM_022903,coiled-coil domain containing 71,467aa) | g.3:49200714G>A,c.928C>T,p.R310W |
| CCDC71(NM_022903,coiled-coil domain containing 71,467aa) | g.3:49200692T>A,c.950A>T,p.Q317L |