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Table 3 Genotype distribution of pathogenic GJB2 gene mutations in the GJB2-positive subgroup of affected participants

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

GJB2 genotype

Profound

Severe

Moderate

Mild

Total count

%

c.[35delG];[35delG]

30

5

2

-

37

44.0

c.[35delG];[313_326del14]

20

4

4

0

28

33.3

c.[313_326del14];[313_326del14]

5

1

3

0

9

10.7

c.[35delG];[269 T > C]

1

-

-

2

3

3.6

c.[35delG];[101 T > C]

-

-

-

2

2

2.4

c.[35delG];[167delT]

-

-

1

-

1

1.2

c.[35delG];[379C > T]

1

-

-

-

1

1.2

c.[35delG];[109G > A]

-

-

1

-

1

1.2

c.[269 T > C];[313_326del14]

-

-

-

1

1

1.2

c.[c.101 T > C];[313_326del14]

-

-

-

1

1

1.2

Total GJB2 (+)

57

10

11

6

84

100.0