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.