Green filled boxes represent exons, with the exon impacted by the variant colored a lighter green. Black lines with arrows represent the introns and the direction (5' to 3'). Colored boxes correspond to the locations of relevant motifs, with the flanking numbers demarcating sequence windows in relation to the exon: branchpoint region (blue), polypyrimidine tract (purple), acceptor motif (yellow), and donor splice site (orange).
