TABLE 4.
98 SLC26A4 variants and genotypes.
Variants | Type | Cases (frequency, %) |
c.[919-2A > G] | Heterozygote | 56 (57.14%) |
c.[2168A > G] | Heterozygote | 10 (10.20) |
c.[1804-6G > A] | Heterozygote | 8 (8.16) |
c.[1174A > T] | Heterozygote | 3 (3.06) |
c.[1229C > T] | Heterozygote | 3 (3.06) |
c.[1975G > C] | Heterozygote | 3 (3.06) |
c.[1226G > A] | Heterozygote | 2 (2.04) |
c.[387delC] | Heterozygote | 2 (2.04) |
c.[920C > T] | Heterozygote | 2 (2.04) |
c.[1229C > T] + [1229C > T] | Homozygote | 1 (1.02) |
c.[1264-12T > A] | Heterozygote | 1 (1.02) |
c.[1336C > T] | Heterozygote | 1 (1.02) |
c.[1343C > T] | Heterozygote | 1 (1.02) |
c.[1707 + 5G > A] | Heterozygote | 1 (1.02 |
c.[2168A > G] + [2168A > G] | Homozygote | 1 (1.02 |
c.[439A > G] | Heterozygote | 1 (1.02) |
c.[589G > A] | Heterozygote | 1 (1.02) |
c.[754T > C] | Heterozygote | 1 (1.02) |
The bold means the pathogenic deafness-associated variants.