Five rare missense mutations in the 5q31 linkage region.

Abbreviations: Chr, chromosome; aa, amino acid; ALL, all populations; AF, allele frequency; ASN, Asian; AA, African American; EA, European American.aFunctional effects predicted by SIFT, PolyPhen-2, LRT, MutationTaster and MutationAssesor in order. Deleterious effect was denoted as+, neutral effect as –, and unpredicted effect as U.bGenomic Evolutionary Rate Profiling++ Rejected Substitution score. The larger the score, the more conserved the site.cConservation score is calculated based on 29 mammals genomes. The larger the score, the more conserved the site.