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Table 2 Allele frequencies of pathogenic GJB2 gene mutations in the affected group of unrelated participants

From: The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

Pathogenic GJB2 gene mutation Count Allele frequency (%) Prediction by in silico computational analysis
c.35delG, p.(Gly12Valfs*2), rs80338939 112 64.7 MutationTaster2 Disease causing
c.313_326del14 p.(Lys105Glyfs*5), rs111033253 49 28.3 MutationTaster2 Disease causing
c.269 T > C p.(Leu90Pro), rs8033894 4 2.3 Sift Damaging (score 0.000)
Polyphen-2 Probably damaging (score 1.0)
MutationTaster2 Disease causing
c.101 T > C p.(Met34Thr), rs35887622 4 2.3 Sift Damaging (score 0.027)
Polyphen-2 Benign (score 0.083)
MutationTaster2 Disease causing
c.167delT p.(Leu56Argfs*26), rs80338942 2 1.2 MutationTaster2 Disease causing
c.109G > A p.(Val37Ile), rs72474224 1 0.6 Sift Tolerated (score 0.717)
Polyphen-2 Probably damaging (score 1.0)
MutationTaster2 Disease causing
c.379C > T p.(Arg127Cys), rs727503066 1 0.6 Sift Damaging (score 0.0)
Polyphen-2 Benign (score 0.423)
MutationTaster2 Disease causing
Total 173 100.0