Figure 1. Identification of a CDHR1 mutation in individuals from a family with cone-rod dystrophy. A: An assembly of paired-end reads following Illumina HiSeq2000 sequencing and alignment with ANNOVAR 2.05, viewed using IGV2.3.0. Samples derived from patients II:2 and II:3 are shown in the top two lanes with three control samples from the same sequencing run, shown below. All 29 and 47 reads from II:2 and II:3, respectively, are consistent with deletion of a single G nucleotide in a run of 5 Gs from the wild-type sequence of exon 13 of cadherin-related family member 1 (CDHR1). B: Pedigree of family GC18832. The pedigree of the affected sibship. The family is an Asian, first-cousin consanguineous pedigree with three affected siblings. Open and closed symbols represent unaffected and affected individuals, respectively. C: Chromatograms of Sanger DNA sequencing surrounding the CDHR1 variant c.1463delG, p.G488fs are shown for patients II:2, II:3, and II:6, as well as an unrelated control sample.