To access the table, click or select the words “Appendix 2.” This will initiate the download of a pdf archive that contains the table. ^aShared cells indicate alleles that could not be tested for segregation, con: consanguineous, ex: ecluded, nd: not done, na: not available, Variant identified in M mother, F father, D daughter, S sister, B brother, CM male cousin, U uncle, A aunt, GF grandfather, GM grandmother, ^bCountry codes: A: Austria, D: Germany, E: Spain, HR: Croatia, I: Italy, SRB: Serbia, TR: Turkey, VN: Vietnam, NL: The Netherlands, ^cVariant was reported by King et al. [16] with a comparable phenotype. ^dPatients were reported by Preising et al. [26]. ^ePatients were reported by Preising et al. [41], Squared brackets indicate variants residing on the same allele. MC1R could not be tested in patient 627.1 due to lack of DNA. The parental DNA was analyzed instead and revealed two variants in each parent shown in the table. We could not show the segregation of these variants, so we placed the variants in parentheses to indicate possible co-segregation.