Variants
Seventy-one ABCA4 NCSS variants, 81 ABCA4 DI variants and 61 MYBPC3 NCSS variants were evaluated with a selection of splice prediction tools (Figure 1a, Table 1). The number of variants that alter splicing and variants that have no effect on splicing is provided in Figure 1b. Ninety percent (64 out of 71) of ABCA4 NCSS variants altered splicing, whilst 74% (60 out of 81) of ABCA4 DI variants had no effect on splicing. MYBPC3 NCSS variants showed a more even distribution with 56% (34 out of 61) splice altering variants. For all three datasets, more variants were located near the SDS than the SAS (Figure 1c). Figures 1d and e show the distribution of variants around the SAS and SDS respectively for all NCSS variants. On the donor site most splice altering variants are located at the last exonic position, and on the acceptor site most splice altering variants are located at position -3.