PRPH2 c.1013A>G p.(Asp338Gly) genotype and allele frequency comparisons in ABCA4 disease cohorts and genetically determined disease subgroups.

For PRPH2, nucleotide positions and protein translation correspond to CCDS4871.1 and NP_000313.2, respectively; for ABCA4, CCDS747.1 and NP_000341.2, respectively. Nucleotide numbering uses the A of the ATG translation initiation start site as nucleotide 1. All comparisons were performed with the two-sided FET. P, uncorrected p-values. Bonferroni correction resulted in the significance thresholds of p = 0.05/4 = 0.0125 for the Discovery cohort and p = 0.05/3 = 0.017 for the Replication and Combined cohorts. AF, allele frequency; P, unadjusted p-value; gnomAD, genome aggregation database. *Replication cohort did not include the data for the c.4253+43G>A variant.