FIGURE 3.

In vitro RNA results collected in the validation set. Experimental data are displayed according to variation location. Variants located at 0 position are those that affect the invariable dinucleotide positions (GT or AG) plus other contiguous nucleotides. Positive splicing alterations include: exon skipping, use of a new or cryptic splice site or an altered-alternative transcript profile. Negative splicing alteration: in vitro RNA result was exactly the same as that obtained in control samples. Spl, splicing.