Table 2 Genotypes of SLC26A4 gene-related hearing impairment in typical Chinese areas

c.IVS7-2A>G

aberrant splicing

Pathogenic

c.IVS7-2A>G

Aberrant splicing

Pathogenic

16

EVA

c.2168A>G

H723R

Pathogenic

c.2168A>G

H723R

Pathogenic

1

EVA

c.1174A>T

N392Y

Pathogenic

c.1174A>T

N392Y

Pathogenic

1

EVA

c.IVS7-2A>G

aberrant splicing

Pathogenic

c.230A>T

K77I

Pathogenic

1

EVA

c.IVS7-2A>G

aberrant splicing

Pathogenic

c.1229C>T

^bT410M

Pathogenic

1

EVA

c.IVS7-2A>G

aberrant splicing

Pathogenic

c.1975G>C

^bV659L

Pathogenic

1

EVA

c.IVS7-2A>G

aberrant splicing

Pathogenic

c.2168A>G

H723R

Pathogenic

3

EVA

c.2168A>G

H723R

Pathogenic

c.109G>T

E37X, nonsense mutation

Pathogenic

1

EVA

c.2168A>G

H723R

Pathogenic

c.1229C>T

^bT410M

Pathogenic

1

EVA

c.2168A>G

H723R

Pathogenic

c.2167C>G

H723D

Unclassified variant

1

EVA

c.1173C>A

S391R

Pathogenic

c.1229C>T

^bT410M

Pathogenic

1

EVA

c.1124A>G

Y375C

Unclassified variant

c.1409G>A

R470H

Unclassified variant

1

Vestibular and cochlear malformation

c.1472T>C

I491T

Unclassified variant

1

EVA and Mondini

c.IVS7-2A>G

aberrant splicing

Pathogenic

8

EVA

c.2168A>G

H723R

Pathogenic

1

EVA

c.IVS7-2A>G

aberrant splicing

Pathogenic

c.1905G>A

E635E

Silent

variant

1

ND

c.1174A>T

N392Y

Pathogenic

1

ND

c.IVS7-2A>G

aberrant splicing

Pathogenic

8

nl

c.2168A>G

H723R

Pathogenic

2

nl

c.1790T>C

L597S

Unclassified variant

1

nl

c.1975G>C

^bV659L

Pathogenic

1

nl

c.757A>G

I253V

Unclassified variant

1

nl

c.200C>G

T67S

Unclassified variant

1

nl

c.IVS12-6i nsT

Intron insertion

Unclassified variant

1

nl

c.225C>G

L75L

Silent variant

1

ND

c.678T>C

A226A

Silent variant

1

nl

c.1905G>A

E635E

Silent variant

1

nl