Table 2 Synonymous and non-synonymous codon variants and intronic variants in the ABCA4 gene
ExonNucleotide changeSequence changeReference
3c.264 A>Tp.Gly88GlyThis study
IVS2-27G>AThis study
IVS3+26 A>G9 15 18
IVS6-32 T>C9 15
8c.1029T>Cp.Asn343AsnThis study
10c.1299A>Gp.Glu433GluThis study
12c.1654G>Ap.Val552IleThis study
IVS13+16G>AThis study
19c.2832A>Gp.Pro944ProThis study
20c.2964C>Tp.Leu988Leu18
23c.3507G>Ap.Gln1169GlnThis study
IVS28+43G>A24
IVS43-16G>A25
IVS48+39 T>AThis study
IVS48-3T>C15 18
  • Novel changes are shown in bold.