Fig. 1

Retention of the last SERPING1 intron present due to the NM_000062.2:c.1249 + 4 A > G r.spl variant found in patient no. 9 using transcriptome sequencing. (A) cDNA sequence alignment to the genome in control (top) and patient (bottom) samples. Note increased coverage of a single allele of the last intron. (B) Sashimi plot of the splicing site usage in control (top) and patient (bottom) samples. Note low number reads covering the canonical splice site between the last two exons