| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Symptom | Hereditary pattern*2 | Onset | Reference |
| FD | 1358 | 2 | G | 1358indelCC->G | 1 | CC-G at nucleotides 1358-1359 --> Ser-Term at codon 453 | night blindness,visual field loss and choroidal atrophy | XR | early | van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
| N | 1471 | 1 | T | E491X | 1 | GAG-TAG --> Glu-Term at codon 491 | night blindness,visual field loss and choroidal atrophy | XR | early | van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
| N | 1484 | 1 | A | S495X | 1 | TCA-TAA --> Ser-Term at codon 495 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
| FD | 1446 | 1 | 1446delA | 1 | 1-bp del of A at nucleotide 1446 --> frameshift at codon 483 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1992) Am.J.Hum.Genet.50, 1195. | |
| FD | 1584 | 4 | 1584delTGTT | 1 | 4-bp del of TGTT at nucleotides 1584-1587 --> frameshift at codon 529 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1992) Am.J.Hum.Genet.50, 1195. | |
| LD | -30 | 75643 | deletion of exons 1 to 8 | 1 | deletion of exons 1 to 8 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| FI | 580 | 0 | A | 580insA | 1 | 1-bp ins of A at nucleotide 580 --> frameshift at codon 195 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
| FD | 525 | 2 | 525delAG | 1 | 2-bp del of AG at nucleotides 525-526 --> frameshift at codon 175 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| N | 877 | 1 | T | R293X | 1 | C-T at nucleotide 877 --> Arg-Term at codon 293 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
| FI | 1153 | 0 | C | 1153insC | 1 | 1-bp ins of C at nucleotide 1153 --> frameshift at codon 385 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
| S | 1414-2 | 1 | G | 1414-2A->G | 1 | A-G at nucleotide 1414 - 2 in intron 11 --> splice error | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
| LD | 1414-100 | 297 | deletion of exon 12 | 1 | deletion of exon 12 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| N | 1497 | 1 | A | C499X | 1 | C-A at nucleotide 1497 --> Cys-Term at codon 499 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
| FD | 1579 | 4 | 1579delTTGT | 1 | 4-bp del of TTGT at nucleotides 1579-1582 --> frameshift at codon 529 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| FD | 1650 | 2 | 1650delTT | 1 | 2-bp del of TT at nucleotides 1650-1651--> frameshift at codon 551 | night blindness, visual field loss and choroidal atrophy | XR | early | van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. | |
| N | 1673 | 1 | G | S558X | 1 | TCA-TGA --> Ser-Term at codon 558 | progressive night blindness and central blindness by severe choroidal atrophy | XR | early | Beaufrere (1996) Hum. Mut. 8, 395. |
| LD | -30 | 10867 | deletion of exons 1 and 2 | 1 | deletion of exons 1 and 2 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. | |
| LD | -30 | 179 | deletion of exon 1 | 1 | deletion of exon 1 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. | |
| LD | -30 | 179 | deletion of exon 1 | 1 | deletion of exon 1 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. | |
| N | 799 | 1 | T | R267X | 1 | C-T at nucleotide 799 --> Arg-Term at codon 267 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. |
| N | 1000 | 1 | T | Q334X | 1 | C-T at nucleotide 1000 --> Gln-Term at codon 334 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. |
| FD | 749 | 1 | 749delA | 1 | 1-bp del A at nucleotide 749 --> frameshift at codon 250 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. | |
| S | 1244+1 | 1 | A | 1244+1G->A | 1 | G-A at nucleotide 1244 + 1 in intron 9 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. |
| S | 1349+2 | 0 | GGT | 1349+2insGGT | 1 | 3-bp ins GGT at nucleotide 1349+2 in intron10 causing aberrant splicing | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. |
| S | 1771-1 | 1 | A | 1771-1G->A | 1 | G-A at nucleotide 1771 - 1 in intron14 | night blindness, visual field loss and choroidal atrophy | XR | early | van den Hurk (1997) Hum. Mut. 9, 110. |
| P | 351 | 1 | G | 351G/A | 1 | G-A at nucleotide 351 | - | - | - | van den Hurk (1997) Hum. Mut. 9, 110. |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | 1414-100 | 32635 | deletion of exons 12 to 15 | 1 | deletion of exons 12 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | 1167-100 | 64745 | deletion of exons 9 to 15 | 1 | deletion of exons 9 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | 1167-100 | 43127 | deletion of exons 9 to 13 | 1 | deletion of exons 9 to 13 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | -30 | 75643 | deletion of exons 1 to 8 | 1 | deletion of exons 1 to 8 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| LD | 117-100 | 54355 | deletion of exons 3 to 8 | 1 | deletion of exons 3 to 8 | night blindness, visual field loss and choroidal atrophy | XR | early | Cremers (1990) Am. J. Hum. Genet. 47, 622. | |
| TL | 1511-100 | 21917 | translocation of exons 13-15 to chromosome 13 | 1 | translocation of exons 13-15 to chromosome 13 | mild choroideremia and infertility secondary to premature ovarian failure | XR | early | Cremers (1989) Proc. Natl. Acad. Sci. 86, 7510. | |
| TL | 190-100 | 118827 | translocation of exons 4-15 to chromosome 7 | 1 | translocation of exons 4-15 to chromosome 7 | choroideremia and primary amenorrhoea | XR | early | Philippe (1993) Genomics 17, 147. | |
| FD | 1584 | 4 | 1584delTGTT | 1 | 4-bp del of TGTT at nucleotides 1584-1587 --> frameshift at codon 529 | night blindness, visual field loss and choroidal atrophy | XR | early | Pascal (1993) Hum. Mol. Genet. 2,1489. | |
| M | 1412 | 1 | T | Q471L | 1 | CAG-CTG at nucleotide 1412 --> Gln-Leu at codon 471 | night blindness and progressive loss of vision | XR | early | Donnelly (1994) Hum. Molec. Genet. 6, 1017. |
| LD | 1414-100 | 297 | deletion of exon 12 | 1 | deletion of exon 12 | severe visual impairment characterized by dystrophy of the choroid and retina epithelium | XR | early | Schwartz (1993) Hum. Mut. 2, 43. | |
| FD | 1650 | 2 | 1650delTT | 1 | 2-bp del of TT at nucleotiodes 1650-1651 --> frameshift at codon 551 | severe visual impairment characterized by dystrophy of the choroid and retina epithelium | XR | early | Schwartz (1993) Hum. Mut. 2, 43. | |
| N | 1497 | 1 | A | C499X | 1 | TGC-TGA at nucleotide 1497 --> Cys-Term at codon 499 | severe visual impairment characterized by dystrophy of the choroid and retina epithelium | XR | early | Schwartz (1993) Hum. Mut. 2, 43. |
| S | 1511-2 | 1 | G | 1511-2A->G | 1 | A-G at nucleotide 1511 - 2 in intron 12 causing aberrant splicing | severe visual impairment characterized by dystrophy of the choroid and retina epithelium | XR | early | Schwartz (1993) Hum. Mut. 2, 43. |
| FD | 1584 | 4 | 1584delTTGT | 1 | 4-bp del of TTGT at nucleotides 1584-1587 --> frameshift at codon 529 | severe visual impairment characterized by dystrophy of the choroid and retina epithelium | XR | early | Schwartz (1993) Hum. Mut. 2, 43. | |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | severe visual impairment characterized by dystrophy of the choroid and retina epithelium | XR | early | Schwartz (1993) Hum. Mut. 2, 43. | |
| LD | -30 | 150809 | deletion of exons 1 to 15 | 1 | deletion of exons 1 to 15 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished | |
| FD | 315 | 4 | 315delTCAG | 2 | 4-bp del of TCAG at nucleotides 315-318 --> frameshift at codon 105 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished | |
| N | 625 | 1 | T | Q209X | 1 | CAA-TAA --> Gln-Term at codon 209 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished |
| N | 757 | 1 | T | R253X | 1 | CGA-TGA --> Arg-Term at codon 253 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished |
| N | 808 | 1 | T | R270X | 1 | CGA-TGA --> Arg-Term at codon 270 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished |
| N | 1208 | 1 | G | S403X | 1 | TCA-TGA --> Ser-Term at codon 403 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished |
| FD | 1283 | 2 | 1283delTC | 1 | 2-bp del of TC at nucleotides 1283-1284 --> termination at codon 429 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished | |
| FI | 1344 | 0 | C | 1344insC | 1 | 1-bp ins of C at nucleotide 1344 --> frameshift at codon 449 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished |
| FI | 1578 | 1 | CC | 1578indelA->CC | 1 | A-CC at nucleotide 1578 --> frameshift at codon 526 | night blindness, visual field loss and choroidal atrophy | XR | early | unpublished |
| S | 1609+2 | 0 | T | 1609+2insT | 1 | 1-bp ins of T at nucleotide 1609 + 2 causing aberrant splicing | night blindness, visual field loss and choroidal atrophy | XR | early | Sankila (1992) Nature Genet.1,109. |