Analysis of CDH1 germline mutations found in 190 individuals.

Legend: ID = Variant code; GenReg = Gene Region; (c) = nucleotide code position; (p) = protein code position; BDs, Blood Donors (n = 52); Freq = Frequency; rs = refSNPcluster; Ref = Reference; Ex = Exon; UTR = Untranslated; d/i = deletion/insertion; Intr = Intronic; I = Intestinal, D = Diffuse, M = Mixed, Ind = Indeterminate, histotypes; Polym. = Polymorphic; mut = mutation. Other abbreviations are described in Table 2 Abbreviations list.#, in the column are indicated the number of subjectss having the ID mutation.##, Frequency of variants was calculated in 111 healthy subjects (52BDs+59FDRs). 16 FDRs were first degree relatives of our GC series, when one of the variant was present in GC and in its related FDR case, we excluded the FDR individual from the frequency calculation.*: new mutation frequency was evaluated by extending BD subjects analysis from 52 to 108 individuals.**: novel mutation with uncertain pathogenetic effect that we have previously reported [26].°: variant with frequencies in NHLBI exome sequencing project (ESP).°°: variant with frequencies in NHLBI exome sequencing project (ESP) and 1000 Genomes project.°°°: variant with frequencies in 1000 Genomes project.