Table 2 Synonymous and non-synonymous codon variants and intronic variants in the ABCA4 gene
| Exon | Nucleotide change | Sequence change | Reference |
| 3 | c.264 A>T | p.Gly88Gly | This study |
| IVS2-27G>A | This study | ||
| IVS3+26 A>G | 9 15 18 | ||
| IVS6-32 T>C | 9 15 | ||
| 8 | c.1029T>C | p.Asn343Asn | This study |
| 10 | c.1299A>G | p.Glu433Glu | This study |
| 12 | c.1654G>A | p.Val552Ile | This study |
| IVS13+16G>A | This study | ||
| 19 | c.2832A>G | p.Pro944Pro | This study |
| 20 | c.2964C>T | p.Leu988Leu | 18 |
| 23 | c.3507G>A | p.Gln1169Gln | This study |
| IVS28+43G>A | 24 | ||
| IVS43-16G>A | 25 | ||
| IVS48+39 T>A | This study | ||
| IVS48-3T>C | 15 18 |
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Novel changes are shown in bold.
