Five rare missense mutations in the 5q31 linkage region.
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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.
创建时间：
2013-11-18
