| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Hereditary pattern*2 | Symptom | Onset | Reference |
| N | 154 | 1 | T | G52X | 1 | GGA-TGA at ntd 154 -> Gly-Term at codon 52 | Retinitis pigmentosa | XR | severe retinitis pigmentosa | early | Meindl et al.Nature Genet.13,35(1996). |
| M | 294 | 1 | A | H98Q | 1 | CAC-CAA at ntd 294 -> His-Gln at codon 98 | Retinitis pigmentosa | XR | severe retinal dysfunction | early | Meindl et al.Nature Genet.13,35(1996). |
| M | 389 | 1 | G | F130C | 1 | TTT-TGT at ntd 389 -> Phe-Cys at codon 130 | Retinitis pigmentosa | XR | severe retinal dysfunction | ND | Roepman et al.Hum. Molec. Genet.5,1035(1996). |
| N | 581 | 1 | A | W194X | 1 | TGG-TAG at ntd 581 -> Trp-Term at codon 194 | Retinitis pigmentosa | XR | severe retinal dysfunction | early | Meindl et al.Nature Genet.13,35(1996). |
| M | 644 | 1 | T | G215V | 1 | GGA-GTA at ntd 644 -> Gly-Val at codon 215 | Retinitis pigmentosa | XR | severe retinal dysfunction | early | Meindl et al.Nature Genet.13,35(1996). |
| M | 703 | 1 | T | P235S | 1 | CCC-TCC at ntd 703 -> Pro-Ser at codon 235 | Retinitis pigmentosa | XR | severe retinal dysfunction | ND | Roepman et al.Hum. Molec. Genet.5,1035(1996). |
| M | 748 | 1 | C | C250R | 1 | TGT-CGT at ntd 748 -> Cys-Arg at codon 250 | Retinitis pigmentosa | XR | severe retinal dysfunction | early | Meindl et al.Nature Genet. 13, 35(1996). |
| M | 823 | 1 | A | G275S | 1 | GGT-AGT at ntd 823 -> Gly-Ser at codon 275 | Retinitis pigmentosa | XR | severe retinal dysfunction | ND | Roepman et al.Hum. Molec. Genet.5,1035(1996). |