| 基因名 | 突变 |
|---|---|
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74560776G>T,c.523G>T,p.G175C |
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74560767C>T,c.514C>T,p.R172C |
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74536404A>G,c.100A>G,p.K34E |
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74536403G>T,c.99G>T,p.K33N |
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74536403_74536405del,c.99_101del,p.33_34del |
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74536401_74536403del,c.97_99del,p.33del |
| CCDC33(NM_025055,coiled-coil domain containing 33,755aa) | g.15:74536356G>A,c.52G>A,p.A18T |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43119661C>A,c.2314C>A,p.H772N |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43119503G>A,c.2156G>A,p.G719D |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43108172C>A,c.1667C>A,p.A556D |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43102987C>T,c.1576C>T,p.R526X |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43055011G>A,c.1240G>A,p.V414I |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43022048G>A,c.647G>A,p.G216E |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43021868A>G,c.467A>G,p.E156G |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43021853A>G,c.452A>G,p.K151R |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43004920A>G,c.194A>G,p.K65R |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43004873A>G,c.147A>G,p.I49M |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43002213G>C,c.58G>C,p.E20Q |
| CCDC30(NM_001080850,coiled-coil domain containing 30,783aa) | g.1:43002200_43002201del,c.45_46del,p.15fs |
| CCDC28B(NM_024296,coiled-coil domain containing 28B,200aa) | g.1:32669918G>A,c.463G>A,p.G155R |
| CCDC28B(NM_024296,coiled-coil domain containing 28B,200aa) | g.1:32669645C>T,c.330C>T,p.F110F |
| CCDC28B(NM_024296,coiled-coil domain containing 28B,200aa) | g.1:32667610G>A,c.74G>A,p.R25Q |
| CCDC28B(NM_024296,coiled-coil domain containing 28B,200aa) | g.1:32667609C>T,c.73C>T,p.R25W |
| CCDC28A(NM_015439,coiled-coil domain containing 28A,274aa) | g.6:139113926A>T,c.811A>T,p.T271S |
| CCDC28A(NM_015439,coiled-coil domain containing 28A,274aa) | g.6:139106400G>A,c.629G>A,p.R210Q |
| CCDC28A(NM_015439,coiled-coil domain containing 28A,274aa) | g.6:139097239C>G,c.252C>G,p.C84W |
| CCDC28A(NM_015439,coiled-coil domain containing 28A,274aa) | g.6:139097232C>T,c.245C>T,p.P82L |
| CCDC28A(NM_015439,coiled-coil domain containing 28A,274aa) | g.6:139095001C>T,c.190C>T,p.R64W |