| 基因名 | 突变 |
|---|---|
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650051A>T,c.1813A>T,p.T605S |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650051_56650052insCTT,c.1813_1814insCTT,p.605ins1aa |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650012G>C,c.1774G>C,p.E592Q |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56650012G>A,c.1774G>A,p.E592K |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56649256C>T,c.1667C>T,p.A556V |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56647707C>T,c.1495C>T,p.R499C |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56647648G>A,c.1436G>A,p.R479H |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56628055A>G,c.1403A>G,p.Q468R |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56628031G>A,c.1379G>A,p.R460Q |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56627598A>G,c.1148A>G,p.Q383R |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56627126del,c.1065del,p.355fs |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56600745A>T,c.668A>T,p.E223V |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56600709C>T,c.632C>T,p.S211L |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56600676T>C,c.599T>C,p.I200T |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56598066A>G,c.457A>G,p.T153A |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56597976A>G,c.367A>G,p.N123D |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56597961A>G,c.352A>G,p.M118V |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56597830G>A,c.221G>A,p.G74D |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56592876A>G,c.14A>G,p.D5G |
| CCDC66(NM_001141947,coiled-coil domain containing 66,948aa) | g.3:56591278_56591279insGGGGTAAGCA,c.8_9insGGGGTAAGCA,p.3fs |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49315200G>A,c.1429G>A,p.G477S |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49315186G>A,c.1415G>A,p.R472H |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49315095G>A,c.1324G>A,p.G442S |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49314994A>G,c.1223A>G,p.Y408C |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49312681G>T,c.1021G>T,p.D341Y |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49312540C>T,c.880C>T,p.R294C |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49312131A>T,c.683A>T,p.D228V |
| CCDC65(NM_033124,coiled-coil domain containing 65,484aa) | g.12:49310787C>A,c.505C>A,p.H169N |