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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

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