Fig 2. Patient pedigrees and sequence chromatography of identified disease-associated variants.

Variants are denoted as M5. (a) Family pedigree of patient 26165. (b) Sequence chromatography of identified heterozygous RP1 variant in patient (bottom) and unaffected sister (top). (c) Family pedigree of patient 25900. (d) Sequence chromatography of identified heterozygous RP1 variant in patient (bottom), unaffected sister carrying the variant (middle) and unaffected mother (top). β: A known polymorphism at position c.2618 in RP1 gene with a frequency of 26.98% in Europeans (Source: Exome Aggregation Consortium).