| 基因名 | 突变 |
|---|---|
| CELA1(NM_001971,chymotrypsin-like elastase family, member 1,258aa) | g.12:51735144C>T,c.347G>A,p.R116H |
| CELA1(NM_001971,chymotrypsin-like elastase family, member 1,258aa) | g.12:51735072del,c.419del,p.140fs |
| CELA1(NM_001971,chymotrypsin-like elastase family, member 1,258aa) | g.12:51723604C>G,c.623G>C,p.G208A |
| CELA1(NM_001971,chymotrypsin-like elastase family, member 1,258aa) | g.12:51723598A>G,c.629T>C,p.L210P |
| CELA1(NM_001971,chymotrypsin-like elastase family, member 1,258aa) | g.12:51723598_51723599insG,c.628_629insC,p.210fs |
| CELA1(NM_001971,chymotrypsin-like elastase family, member 1,258aa) | g.12:51723499T>C,c.728A>G,p.Q243R |
| CECR6(NM_031890,cat eye syndrome chromosome region, candidate 6,578aa) | g.22:17600895C>T,c.1123G>A,p.A375T |
| CECR6(NM_031890,cat eye syndrome chromosome region, candidate 6,578aa) | g.22:17600843G>A,c.1175C>T,p.A392V |
| CECR6(NM_031890,cat eye syndrome chromosome region, candidate 6,578aa) | g.22:17600672G>A,c.1346C>T,p.A449V |
| CECR6(NM_031890,cat eye syndrome chromosome region, candidate 6,578aa) | g.22:17600420C>A,c.1598G>T,p.G533V |
| CECR6(NM_031890,cat eye syndrome chromosome region, candidate 6,578aa) | g.22:17600393G>A,c.1625C>T,p.P542L |
| CECR6(NM_031890,cat eye syndrome chromosome region, candidate 6,578aa) | g.22:17600313C>T,c.1705G>A,p.V569I |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17640045G>A,c.97C>T,p.R33C |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17630477T>G,c.285A>C,p.L95F |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17625915G>A,c.536C>T,p.T179M |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17622096C>T,c.599G>A,p.R200H |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17619517C>G,c.858G>C,p.Q286H |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17619180C>T,c.1003G>A,p.D335N |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17619076C>G,c.1107G>C,p.R369S |
| CECR5(NM_033070,cat eye syndrome chromosome region, candidate 5,423aa) | g.22:17618937G>A,c.1246C>T,p.R416C |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17690558C>T,c.10G>A,p.D4N |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17690464G>A,c.104C>T,p.A35V |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17690429C>G,c.139G>C,p.G47R |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17688057G>A,c.446C>T,p.A149V |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17684517C>T,c.689G>A,p.R230Q |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17684453C>T,c.753G>A,p.P251P |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17670877C>T,c.927G>A,p.M309I |
| CECR1(NM_001282225,cat eye syndrome chromosome region, candidate 1,511aa) | g.22:17669306T>C,c.1004A>G,p.H335R |