To access the data, click or select the words “Appendix 5.” Pedigree drawings of RP151 (right side) along with sequence chromatograms showing wild-type and heterozygous mutant allele (left side) i.e., c. 247G>A of COL2A1 gene. The variant is segregating in an autosomal dominant pattern with Stickler syndrome phenotype. Squares and circles denote males and females respectively. Filled symbols show affected while unfilled symbols show unaffected individuals. The symbol labeled with a red arrow in pedigree highlights the proband. Double lines indicate the consanguineous union.