Fig. 8

Sanger sequencing of 'Exon 2-skipped' RT-PCR bands from two exon 2 variants (c.56G > C and c.65G > T) in SPINK1. For the corresponding bands, refer to Fig. 6. Sanger sequencing revealed that each band contains a mix of aberrantly spliced and normally spliced transcripts, with the junctions of both transcript isoforms being delineated by vertical lines. Annotations beneath the electropherograms specify the junction-spanning sequences for both isoforms: the upper annotation pertains to the aberrantly spliced transcript, and the lower to the normally spliced transcript. In both panels, the normally spliced transcripts exhibit a consistent sequence of exon 1 followed by exon 2, differentiated only by the introduced variants (highlighted in red). The aberrantly spliced transcripts are identical, characterized by exon 1 directly followed by exon 3. Sequence numbering aligns with NM_001379610.1. Specifically, c.55, c.56, and c.88 mark the terminal position of exon 1, the start of exon 2, and the start of exon 3 in SPINK1, respectively