Table 3 SLC26A4 mutation spectrum in patients with EVA from south China

c.IVS7-2A > G

Splice site

c.IVS7-2A > G

Splice site

29

c.IVS7-2A > G

Splice site

c.2086C > T

p.Q696Stop

5

c.IVS7-2A > G

Splice site

c.2168A > G

p.H723R

5

c.IVS7-2A > G

Splice site

c.1229C > T

p.T410M

9

c.IVS7-2A > G

Splice site

c.2000 T > C

p.F667S

1

c.IVS7-2A > G

Splice site

c.1691insA

Frameshift

3

c.IVS7-2A > G

Splice site

c.1343C > T

p.S448L

3

c.IVS7-2A > G

Splice site

c.754 T > C

p.S252P

4

c.IVS7-2A > G

Splice site

c.1369A > T

p.N457Y

1

c.IVS7-2A > G

Splice site

c.1079C > T

p.A360V

4

c.IVS7-2A > G

Splice site

c.1540C > T

p.Q514Stop

2

c.IVS7-2A > G

Splice site

c.1919G > A

p.W641Stop

2

c.IVS7-2A > G

Splice site

c.IVS14-2A > G

Splice site

1

c.IVS7-2A > G

Splice site

c.422 T > C

p.F141S

1

c.IVS7-2A > G

Splice site

c.259G > T

p.D87Y

1

c.754 T > C

p.S252P

c.754 T > C

p.S252P

1

c.754 T > C

p.S252P

c.2168A > G

p.H723R

1

c.754 T > C

p.S252P

c.1229C > T

p.T410M

1

c.1229C > T

p.T410M

c.1229C > T

p.T410M

1

c.1229C > T

p.T410M

c.1547insC

Frameshift

3

c.1229C > T

p.T410M

c.259G > T

p.D87Y

3

c.1229C > T

p.T410M

c.2086C > T

p.Q696Stop

2

c.1229C > T

p.T410M

c.679G > C

p.A227P

1

c.589G > A

p.G197R

c.1547insC

Frameshift

1

c.2086C > T

p.Q696Stop

c.2086C > T

p.Q696Stop

1

c.2168A > G

p.H723R

c.2168A > G

p.H723R

3

c.2168A > G

p.H723R

c.1975G > C

p.V659L

1

c.754 T > C

p.S252P

c.1975G > C

p.V659L

1

c.1975G > C

p.V659L

c.2086C > T

p.Q696Stop

1