Fig. 2. PROS1 CoLAS analysis.

a IGV image of DNA-level analysis. A base substitution of the intron 4 splice donor site, c.346+2 T > A, was detected and verified by Sanger sequencing. b IGV Sashimi plot. RNA level analysis revealed aberrant splicing in intron 4 resulting from the insertion of intron sequences into the PROS1 mRNA. Each number indicates the number of splice sites. c IGV image of RNA analysis showing in-frame insertion (48 bp). Note that all insertion reads are from the variant allele (c.346+2A). Note that the original IGV image of the NGS analysis shows complementary strands because the orientation of PROS1 on the genome is reversed. In the figure, the IGV images have been reversed for ease of understanding. In a, c, the variant allele is shown as T (red), the complement of A.