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Sanger sequencing chromatograms verifying the (A) normal and (B) variant‐containing alleles. An 85 bp insertion was confirmed at the deletion breakpoint, which intersects an L1HS long interspersed nuclear element at its 3′ end. The inserted sequence encompassed the downstream exon 24 locus. Genomic coordinates are reported using human genome build hg19. Transcript numbering is according sequence NM_000321.3. Int.: Intron
