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Table 1 GJB2 genotypes of 2063 Chinese NSHI patients

From: GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Allele 1

Allele 2

nucleotide change

consequence or amino acid change

category

domain

nucleotide change

consequence or amino acid change

Category

domain

Number of patientsd

homozygous

        

c.35delG

frame-shift

pathogenic

NT

c.35delG

frame-shift

Pathogenic

 

2

c.176_c.191del16

fram shift

pathogenic

EC1

c.176_c.191del16

frame-shift

Pathogenic

EC1

2

c.235delC

frame-shift

pathogenic

TM2

c.235delC

frame-shift

Pathogenic

TM2

164

c.299_c.300delAT

frame-shift

pathogenic

CL

c.299_c.300delAT

frame-shift

pathogenic

CL

8

c.512_c.513insAACG

frame-shift

pathogenic

EC2

c.512_c.513insAACG

frame-shift

pathogenic

EC2

1

c.605_c.606ins46

frame-shift

pathogenic

TM4

c.605_c.606ins46

frame-shift

pathogenic

TM4

1

compound heterozygous

c.9G>A, c.79G>A

p.W3X, p.V27I

pathogenic, polymophism

NT, TM1

c.427C>T

p.R143W

pathogenic

TM3

1

c.35delG

frame-shift

pathogenic

NT

c.299_c.300delAT

frame-shift

pathogenic

CL

1

c.35delG

frame-shift

pathogenic

NT

c.313_c.326del14

frame-shift

pathogenic

CL

1

c.176_c.191del16

frame-shift

pathogenic

EC1

c.9G>A, c.79G>A

p.W3X, p.V27I

pathogenic, polymophism

NT+TM1

2

c.176_c.191del16

frame-shift

pathogenic

EC1

c.299_c.300delAT

frame-shift

pathogenic

CL

4

c.176_c.191del16

frame-shift

pathogenic

EC1

c.388_c.397del10

frame-shift

pathogenic

 

1

c.235delC

frame-shift

pathogenic

TM2

c.9G>A, c.79G>A

p.W3X, p.V27I

pathogenic, polymophism

NT+TM1

2

c.235delC

frame-shift

pathogenic

TM2

c.35delG

frame-shift

pathogenic

NT

1

c.235delC

frame-shift

pathogenic

TM2

c.35insG

frame-shift

pathogenic

NT

2

c.235delC

frame-shift

pathogenic

TM2

c.94C>T

p.R32C

pathogenic

TM1

1

c.235delC

frame-shift

pathogenic

TM2

c.99delT

frame-shift

pathogenic

TM1

1

c.235delC

frame-shift

pathogenic

TM2

c.139G>T

p.E47X

pathogenic

EC1

3

c.235delC

frame-shift

pathogenic

TM2

c.155_c.158delTCTG

frame-shift

pathogenic

EC1

2

c.235delC

frame-shift

pathogenic

TM2

c.176_191del16

frame-shift

pathogenic

EC1

18

c.235delC

frame-shift

pathogenic

TM2

c.257C>G

p.T86R

pathogenic

TM2

6

c.235delC

frame-shift

pathogenic

TM2

c.299_c.300delAT

frame-shift

pathogenic

CL

65

c.235delC

frame-shift

pathogenic

TM2

c.299_c.300delAT, c.79G>A

frame-shift, p.V27I

frame-shift, polymorphism

CL+TM1

1

c.235delC

frame-shift

pathogenic

TM2

c.313_c.326del14

frame-shift

pathogenic

CL

1

c.235delC

frame-shift

pathogenic

TM2

c.427C>T

p.R143W

pathogenic

TM3

3

c.235delC

frame-shift

pathogenic

TM2

c.512_c.513insAACG

frame-shift

pathogenic

EC2

6

c.235delC

frame-shift

pathogenic

TM2

c.605_c.606ins46

frame-shift

pathogenic

TM4

1

c.299_c.300delAT

frame-shift

pathogenic

CL

c.139G>A

p.E47K

pathogenic

EC1

1

c.299_c.300delAT

frame-shift

pathogenic

CL

c.257C>G

p.T86R

pathogenic

TM2

1

c.299_c.300delAT

frame-shift

pathogenic

CL

c.512_c.513insAACG

frame-shift

pathogenic

EC2

3

c.456C>A

p.Y152X

pathogenic

TM3, CL

c.380G>A, c.79G>A, c.341A>G

p.R127H, p.V27I, E114G

pathogenic, polymophism

TM1+CL

1

heterozygous (one mutant allele only)

c.11G>A

p.G4D

pathogenic

NT

c.109G>A

p.V37I

see note

TM1

1

c.11G>A

p.G4D

pathogenic

NT

Nv

   

2

c.35delG

frame-shift

pathogenic

NT

c.79G>A, c.341A>G

p.V27I p,E114G

polymorphism

TM1+CL

1

c.35delG

frame-shift

pathogenic

NT

Nv

   

4

c.155_c.158delTCTG

frame-shift

pathogenic

EC1

c.341A>G, c.644T>A

p.E114G, p.I215N

polymorphism, unclassified

CL+CT

1

c.176_c.191del16

frame-shift

pathogenic

EC1

Nv

   

2

c.235delC

frame-shift

pathogenic

TM2

c.109G>A

p.V37I

see note

TM1

11

c.235delC

frame-shift

pathogenic

TM2

c.79G>A

p.V27I

polymorphism

TM1

6

c.235delC

frame-shift

pathogenic

TM2

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

5

c.235delC

frame-shift

pathogenic

TM2

c.341A>G

p.E114G

polymorphism

CL

2

c.235delC

frame-shift

pathogenic

TM2

c.558G>A

p.T186T

polymorphism

EC2

1

c.235delC

frame-shift

pathogenic

TM2

Nv

   

43

c.253T>C

p.S85P

pathogenic

TM2

Nv

   

1

c.299_c.300delAT

frame-shift

pathogenic

CL

c.109G>A

p.V37I

see note

TM1

1

c.299_c.300delAT

frame-shift

pathogenic

CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.299_c.300delAT

frame-shift

pathogenic

CL

Nv

   

4

c.380G>A, c.341A>G

p.R127H, p.E114G

pathogenic, polymophism

CL+CL

c.109G>A

p.V37I

see note

TM1

1

c.380G>A

p.R127H

pathogenic

CL

c.109G>A

p.V37I

see note

TM1

1

c.380G>A, c.109G>A

p.R127H, p.V37I

pathogenic, polymophism

TM1+CL

c.79G>A

p.V27I

polymorphism

TM1

1

c.380G>A, c.79G>A

p.R127H, p.V27I

pathogenic, polymophism

TM1+CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.380G>A

p.R127H

pathogenic

CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

9

c.380G>A, c.147C>T

p.R127H, p.A49A

pathogenic, polymophism

EC1+CL

c.79G>A

p.V27I

polymorphism

TM1

1

c.380G>A, c.608T>C

p.R127H, p.I203T

pathogenic, polymophism

CL+TM4

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.380G>A, c.608T>C

p.R127H, p.I203T

pathogenic, polymophism

CL+TM4

c.79G>A

p.V27I

polymorphism

TM1

1

c.380G>A

p.R127H

pathogenic

CL

c.79G>A

p.V27I

polymorphism

TM1

4

c.380G>A

p.R127H

pathogenic

CL

c.457G>A

p.V153I

polymorphism

TM3

1

c.380G>A

p.R127H

pathogenic

CL

Nv

   

10

c.416G>A

p.S139N

pathogenic

CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.416G>A

p.S139N

pathogenic

CL

Nv

   

1

c.424_c.426del3

p.del142F

pathogenic

TM3

c.79G>A, c.341A>G, c.109G>A

p.V27I, p.E114G, p.V37I

polymorphisms, see note

TM1+CL

3

c.424_c.426del3

p.del142F

pathogenic

TM3

c.79G>A, c.109G>A

p.V27I, p.V37I

polymorphisms, see note

TM1

1

c.512_c.513insAACG

frame-shift

pathogenic

EC2

c.79G>A, c.368C>A

p.V27I, p.T123N

polymorphism, unclassified

TM1+CL

1

c.512_c.513insAACG

frame-shift

pathogenic

EC2

Nv

   

1

unclassified variant

c.61G>C, c.79G>A

p.G21R, p.V27I

unclassified, polymorphism

NT+TM1

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.88A>T

p.I30F

unclassified

TM1

Nv

   

1

c.93T>G

p.F31L

unclassified

TM1

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.187G>T

p.V63L

unclassified

EC1

Nv

   

2

c.368C>A, c.79G>A

p.T123N, p.V27I

unclassified, polymorphism

CL+TM1

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.368C>A, c.79G>A

p.T123N, p.V27I

unclassified, polymorphism

CL+TM1

c.79G>A

p.V27I

polymorphism

TM1

3

c.368C>A

p.T123N

unclassified

CL

c.79G>A

p.V27I

polymorphism

TM1

7

c.368C>A, c.608T>C

p.T123N, p.I203T

unclassified, polymorphism

CL+TM4

c.79G>A

p.V27I

polymorphism

TM1

1

c.458T>C

p.V153A

unclassified

EC2

c.608T>C

p.I203T

polymorphism

TM4

1

c.571T>C, c.592G>A

p.F191L, p.V198M

unclassified

TM4+TM4

c.79G>A

p.V27I

polymorphism

TM1

1

c.583A>G

p.M195V

unclassified

TM4

Nv

   

1

c.583A>G

p.M195V

unclassified

TM4

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.592G>A, c.79G>A, c.341A>G

p.V198M, p.V27I, p.E114G

unclassified, polymorphism

TM4+TM1+CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.592G>A, c.79G>A

p.V198M, p.V27I

unclassified, polymorphism

TM4+TM1

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.592G>A

p.V198M

unclassified

TM4

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

2

c.475G>A

p.D159N

unclassified

EC2

Nv

  

TM1+CL

1

c644T>A, c.79G>A, c.341A>G

p.I215N, p.V27I, p.E114G

unclassified, polymorphism

CT+TM1+CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

1

c.644T>A

p.I215N

unclassified

CT

c.608T>C

p.I203T

polymorphism

TM4

1

c.109G>A

p.V37I

see note

TM1

c.109G>A

p.V37I

see note

TM1

23

c.109G>A

p.V37I

see note

TM1

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

29

c.109G>A

p.V37I

see note

TM1

c.79G>A

p.V27I

polymorphism

TM1

10

c.109G>A

p.V37I

see note

TM1

c.608T>C

p.I203T

polymorphism

TM4

3

c.109G>A

p.V37I

see note

TM1

Nv

   

91

polymorphism

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

90

c.79G>A

p.V27I

polymorphism

TM1

c.79G>A

p.V27I

polymorphism

TM1

18

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

c.79G>A

p.V27I

polymorphism

TM1

42

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

c.341A>G

p.E114G

polymorphism

 

2

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

c.457G>A

p.V153I

polymorphism

TM3

1

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

c.608T>C

p.I203T

polymorphism

TM4

12

c.79G>A, c.341A>G

p.V27I, p.E114G

polymorphism

TM1+CL

Nv

   

387

c.79G>A

p.V27I

polymorphism

TM1

c.608T>C

p.I203T

polymorphism

TM4

5

c.79G>A, c.608T>C

p.V27I

polymorphism

TM1+TM4

c.608T>C

p.I203T

polymorphism

TM4

1

c.79G>A

p.V27I

polymorphism

TM1

Nv

   

202

c.147C>T

p.A49A

polymorphism

EC1

Nv

   

1

c.181A>G

p.K61K

polymorphism

EC1

Nv

   

1

c.341A>G

p.E114G

polymorphism

CL

Nv

   

14

c.438C>T

p.F146F

polymorphism

TM3

Nv

   

2

c.608T>C

p.I203T

polymorphism

TM4

c.608T>C

p.I203T

polymorphism

TM4

3

c.608T>C

p.I203T

polymorphism

TM4

Nv

   

28

nv

   

Nv

   

638

total

       

2063

  1. nv: no variant
  2. Note: p.V37I is controversy variant, see the discussion.