| 基因名 | 突变 |
|---|---|
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93141580C>A,c.1510C>A,p.Q504K |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93141575T>C,c.1505T>C,p.V502A |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93141472C>T,c.1402C>T,p.R468X |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93129484A>G,c.1319A>G,p.E440G |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93129483G>C,c.1318G>C,p.E440Q |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93118643G>A,c.869G>A,p.R290Q |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93118642C>T,c.868C>T,p.R290X |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93103330C>T,c.524C>T,p.S175F |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93097386G>T,c.358G>T,p.V120F |
| CCDC67(NM_181645,coiled-coil domain containing 67,604aa) | g.11:93088656G>A,c.149G>A,p.R50Q |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56655621A>G,c.2822A>G,p.E941G |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56655620G>C,c.2821G>C,p.E941Q |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56653841G>C,c.2672G>C,p.C891S |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56653820G>A,c.2651G>A,p.R884Q |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56653427T>C,c.2507T>C,p.L836S |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56653424A>T,c.2504A>T,p.E835V |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56653417_56653420del,c.2497_2500del,p.833fs |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56653337C>T,c.2417C>T,p.T806I |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56651553A>T,c.2257A>T,p.N753Y |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56651412A>G,c.2116A>G,p.N706D |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56651400G>C,c.2104G>C,p.D702H |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56651320A>G,c.2024A>G,p.N675S |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650058A>C,c.1820A>C,p.K607T |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650057A>T,c.1819A>T,p.K607X |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650056_56650057insTCT,c.1818_1819insTCT,p.606_607ins1aa |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650056_56650057insCCT,c.1818_1819insCCT,p.606_607ins1aa |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650054T>C,c.1816T>C,p.S606P |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650054_56650055insCTC,c.1816_1817insCTC,p.606ins1aa |