Fig. 3

RDDC RNA Splicer prediction results. a The c.1305 + 2del variant can produce three splice forms, including an 11 bp insertion, providing an alternative splicing donor, a 99 bp deletion, resulting in exon skipping, and a 551 bp insertion, leading to a premature termination codon. b The c.1305 + 2 T > A variant can produce three splice forms, including a 12 bp insertion, providing an alternative splicing donor, a 99 bp deletion, resulting in exon skipping, and a 552 bp insertion, leading to a premature termination codon