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. 2016 Jul 8;11(7):e0158692. doi: 10.1371/journal.pone.0158692

Fig 4. CDHR1 intronic variant.

Fig 4

Snapshot of Alamut visual showing an intronic variant (c.439-17G>A) in patient 26007 (green rectangle). The bam alignment file clearly shows a heterozygous variant 17bp upstream from exon 6. Inset: Snapshot of splicing prediction algorithms (in silico) shows a strong cryptic splice acceptor gain at the site of the variant (blue rectangle). Values are comparable to that of canonical splice acceptor site. Red rectangle shows a stop codon in-frame to the cryptic splice activator site.