| 基因名 | 突变 |
|---|---|
| CRB1(NM_001257965,crumbs homolog 1 (Drosophila),1382aa) | g.1:197298097G>A,c.409G>A,p.G137R |
| CRB1(NM_001257965,crumbs homolog 1 (Drosophila),1382aa) | g.1:197297965G>A,c.277G>A,p.V93M |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131870304C>T,c.17G>A,p.R6H |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131866548T>C,c.266A>G,p.Y89C |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131866513C>T,c.301G>A,p.V101M |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131866493G>C,c.321C>G,p.D107E |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131864818C>G,c.428G>C,p.G143A |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131864200C>T,c.704G>A,p.R235H |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131862918C>T,c.793G>A,p.V265M |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131862903T>C,c.808A>G,p.T270A |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131862864C>T,c.847G>A,p.V283M |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131862812C>T,c.899G>A,p.R300H |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131862194C>T,c.973G>A,p.A325T |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131860901G>T,c.1051C>A,p.L351M |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131860625C>T,c.1168G>A,p.V390M |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131860562A>G,c.1231T>C,p.F411L |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131860312T>C,c.1381A>G,p.M461V |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131859528C>T,c.1464+1G>A,p.488Donor |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131857840C>T,c.1654G>A,p.G552S |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131857714G>A,c.1780C>T,p.R594C |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131857713C>T,c.1781G>A,p.R594H |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131857713C>A,c.1781G>T,p.R594L |
| CRAT(NM_001257363,carnitine O-acetyltransferase,605aa) | g.9:131857687C>G,c.1807G>C,p.A603P |
| CRAMP1L(NM_020825,Crm, cramped-like (Drosophila),1269aa) | g.16:1724023G>A,c.3787G>A,p.A1263T |
| CRAMP1L(NM_020825,Crm, cramped-like (Drosophila),1269aa) | g.16:1720802G>A,c.3637G>A,p.V1213I |
| CRAMP1L(NM_020825,Crm, cramped-like (Drosophila),1269aa) | g.16:1720713T>C,c.3548T>C,p.I1183T |
| CRAMP1L(NM_020825,Crm, cramped-like (Drosophila),1269aa) | g.16:1718110C>T,c.3250C>T,p.P1084S |
| CRAMP1L(NM_020825,Crm, cramped-like (Drosophila),1269aa) | g.16:1716596G>A,c.3031G>A,p.V1011M |