Nucleotide change Amino acid change Minor Allele Count MAF dbSNP ID 1000 Genomes* Minor Allele Count MAF c.546A>C p.Lys182Asn 1 0.003 rs201141645 1 0.000 c.2494G>A p.Val832Met 2 0.005 rs35572355 (“pathogenic allele”) 2 0.001 Duplication of exon 11 unknown 2 0.005 NA NA NA

Table 2: Single nucleotide variations of CDH1 gene found in 189 healthy aged Japanese controls (Yamada H et al. unpublished results) MAF: Minor allele frequency; NA: not available *http://www.1000genomes.org/announcements/may-2011-data-release-2011-05-12