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. 2008 Dec 24;17(5):554–564. doi: 10.1038/ejhg.2008.231

Table 1. Frequency of PCDHI5 sequencing variants that were homozygous in deaf family members in ethnically matched population controls from Newfoundland.

    Variant nomenclature   Genotype frequency in NL population
Gene name Accession number Coding nomenclature Genomic nomenclature Classification Wt n (%) Het n (%) Homo n (%) Total N
PCDH15 NM_033056 c.3502-19 C>A g.55287049 C>A Intronic 150 (94) 9 (6) 0 (0) 159
    c.1583 T>A g.55613217 T>A Missense (V528D) 152 (100) 0 (0) 0(0) 152
    c.55 T>G g.56093974 T>G Missense (S19A) 87 (56) 57 (37) 12 (8) 156

Abbreviation: Wt, wild type.