| 基因名 | 突变 |
|---|---|
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96311056C>T,c.155G>A,p.R52H |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96311005T>C,c.206A>G,p.H69R |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96292474_96292475insT,c.404_405insA,p.135fs |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96292356C>T,c.523G>A,p.A175T |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96292170C>G,c.607G>C,p.V203L |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96288860T>C,c.679A>G,p.M227V |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96288809A>G,c.730T>C,p.S244P |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96275306T>C,c.947A>G,p.D316G |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96273422G>A,c.1142C>T,p.T381I |
| CCDC38(NM_182496,coiled-coil domain containing 38,563aa) | g.12:96273421C>T,c.1142+1G>A,p.381Donor |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126155156G>A,c.1745G>A,p.R582H |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126153193G>A,c.1597G>A,p.E533K |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126153076G>A,c.1480G>A,p.G494S |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126142479G>T,c.1278G>T,p.Q426H |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126142435G>A,c.1234G>A,p.E412K |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126142434_126142436del,c.1233_1235del,p.411_412del |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126142205G>A,c.1120G>A,p.D374N |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126138991G>A,c.1001G>A,p.R334Q |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126138479G>T,c.732-1G>T,p.244Acceptor |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126137577G>A,c.610G>A,p.V204I |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126137571G>A,c.604G>A,p.E202K |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126137547G>A,c.580G>A,p.E194K |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126137497C>T,c.530C>T,p.T177M |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126137487C>T,c.520C>T,p.R174W |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126135332G>A,c.399G>A,p.W133X |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126133006G>A,c.209G>A,p.R70Q |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126132999C>A,c.202C>A,p.Q68K |
| CCDC37(NM_182628,coiled-coil domain containing 37,611aa) | g.3:126114857C>T,c.14C>T,p.P5L |