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. 2018 Dec 21;13(12):e0209797. doi: 10.1371/journal.pone.0209797

Table 1. Mutant alleles detected in the 188 deaf families and 47 normal-hearing controls.

Nucleotide change Amino acid change Allele no. in patients (%)# Allele no. in controls (%)
GJB2
    c.-23+1G>A NA 12 (3.2) 0 (0)
    c.235delC p.Leu79Cysfs*3 8 (2.1) 1 (1.1)
    c.35delG p.Gly12Valfs*2 6 (1.6) 0 (0)
    c.109G>A p.Val37Ile 4 (1.0) 0 (0)
    c.299_300delAT p.His100Argfs*14 4 (1.0) 0 (0)
    c.35dupG p.Val13Cysfs*35 2 (0.5) 0 (0)
    c.560_605dup p.Cys202* 2 (0.5) 0 (0)
    c.269T>C p.Leu90Pro 1 (0.3) 0 (0)
    c.508_511dupAACG p.Ala171Glufs*40 1 (0.3) 0 (0)
    Total 40 (10.6)K 1 (1.1)K
SLC26A4
    c.919-2A>G NA 7 (2.1) 0 (0)
    c.281C>T p.Thr94Ile 1 (0.3) 0 (0)
    c.2027T>A p.Leu676Gln 1 (0.3) 0 (0)
    Total 9 (2.4) 0 (0)
MT-RNR1
    m.1555A>G NA 2 (1.1) 0 (0)

# 376 GJB2, 376 SLC26A4, and 188 MT-RNR1 alleles.

94 GJB2, 94 SLC26A4, and 47 MT-RNR1 alleles.

K p < 0.01 by Fisher’s exact test.

NA, Not available.