Index | Phenotype | Pre-screening | Gene | Mutation | Allele State | Read reference NGS | Read variant NGS | Reference | Mutation verified by Sanger and co-segregation |
---|---|---|---|---|---|---|---|---|---|
CIC00019, F16 | adRP | Linkage, RHO, PRPF31, PRPH2, RP1 | PRPF3 | c.1481C > T p.T494M | het | 25 | 22 | [67] | yes |
CIC0000893, F574 | adRP | RHO, PRPF31, PRPH2, RP1 | NR2E3 | c.166G > A p.G56R | het | 5 | 3 | [68] | yes |
CIC000128, F100 | arRP, consang. | - | EYS | c.408_423del p.N137VfsX24 | homo | - | 179 | yes | |
CIC0000943, F100 | arRP, consang | - | EYS | c.408_423del p.N137VfsX24 | homo | 0 | 193 | yes |