Table 5 Presumably neutral missense variants

MYO7A

47T>C

3

L16S

>10

[58]

905G>A

9

R302H

2

1/494

[78]

4996A>T

36

S1666C

>10

U39226

5156A>G

37

Y1719C*

3

2/306

[91]

5860C>A

43

L1954I

>10

U39226

USH1C

2192G>A

21

R731Q

1

This study

2457G>C

24

E819D

>10

[92]

CDH23

7C>T

1

R3C

>10

[55]

1469G>C

14

G490A

>10

[55]

1487G>A

14

S496N

>10

[55]

3625A>G

30

T1209A*

1

5/486

[55]

3664G>A

30

A1222T

4

[55]

4051G>A

31

D1351N

>10

[55]

4310G>A

34

R1437Q

6

[55]

4723A>G

37

T1575A

>10

[55]

4858G>A

38

V1620M

1

2/306

[55]

5023G>A

38

V1675I

>10

[55]

5411G>A

41

R1804Q

>10

[55]

5418C>G

41

D1806E

2

[93]

5692G>A

42

A1898T

1

0/306

This study

5996C>G

45

T1999S

>10

[55]

6130G>A

46

E2044K

>10

[55]

6197G>A

46

R2066Q

1

0/306

[55]

6329C>T

47

A2110V

1

This study

6596T>A

47

I2199N

1

0/306

This study

6809G>A

48

R2270H

1

This study

6847G>A

49

V2283I

6

[55]

6869C>T

49

T2290M

1

0/306

This study

7073G>A

50

R2358Q

>10

[55]

7139C>T

50

P2380L

>10

[55]

7762G>C

54

E2588Q

1

1/306

[55]

9049G>A

61

D3017N

1

This study

9373T>C

65

F3125L

1

7/306

[56]

9949G>A

69

A3317T

1

1/306

This study

PCDH15

55T>G

2

S19A

>10

[94]

1039C>T

10

L347F

1

3/666

This study

1138G>A

11

G380S

>10

This study

1304A>C

11

D435A

>10

AL834134

1910A>G

15

N637S

2

[92]

2786G>A

21

R929Q

>10

AL834134

4850A>G

34^§

N1617S

2

This study

4853A>C

36^§

E1618A

>10

This study

4982A>C

37^§

Q1661P

>10

This study

USH2A

373G>A

2

A125T

>10

[95]

1434G>C

8

E478D

3

[95]

1663C>G

10

L555V*

1

0/306

[96]

1931A>T

11

D644V

>10

[95]

4457G>A

21

R1486K

>10

AF055580

4994T>C

25

I1665T

>10

[89]

6317T>C

32

I2106T

>10

[89]

6506T>C

34

I2169T

>10

[89]

6713A>C

35

E2238A

6

5/306

[89]

6875G>A

36

R2292H

4

[28]

8624G>A

43

R2875Q

4

[89]

8656C>T

43

L2886F

4

[89]

9008T>C

45

V3003A

1

This study

9262G>A

47

E3088K*

1

3/306

[28]

9296A>G

47

N3099S

4

[89]

9343A>G

47

T3115A

3

5/306

[28]

9430G>A

48

D3144N

4

[89]

9595A>G

49

N3199D

6

[28]

10232A>C

52

E3411A

>10

[89]

11504C>T

59

T3835I

>10

[28]

11602A>G

60

M3868V

>10

[89]

11677C>A

60

P3893T*

1

1/306

[28]

15091C>T

70

R5031W

2

2/306

[28]

15377T>C

71

I5126T*

3

2/306

[87]

VLGR1

365C>T

4

S122L

>10

This study

P194H

6

P194H

1

5/468

This study

1033C>A

7

Q345K

1

This study

2261T>C

12

V754A

1

0/306

This study

3289G>A

17

G1097S

1

3/478

This study

3482C>G

19

S1161C

1

0/306

This study

4939A>G

23

I1647V

>10

This study

5780C>T

28

T1927M

>10

[11]

5851G>A

28

V1951I

>10

[11]

5953A>G

28

N1985D

>10

[11]

5960C>T

28

P1987L

>10

[11]

6012G>T

28

L2004F

>10

[11]

6695A>G

30

Y2232C

>10

[11]

7034A>G

32

N2345S

>10

[11]

7582C>T

33

P2528S

1

1/306

This study

7751A>G

33

N2584S

>10

[97]

8291C>T

36

S2764L

6

[11]

8407G>A

37

A2803T

4

[11]

9280G>A

43

V3094I

>10

This study

9743G>A

45

G3248D

>10

[11]

9650C>T

45

A3217V

2

[11]

10411G>A

49

E3471K

>10

[97]

10429G>T

50

D3477Y

1

This study

10490A>G

50

Q3497R

1

This study

10577T>C

51

M3526T

3

This study

10936T>C

52

S3646P

3

This study

11599G>A

56

E3867K

>10

This study

12269C>A

59

T4090N

2

This study

14029T>C

69

F4677L

1

2/478

This study

14905T>C

73

W4969R

2

This study

17626G>A

82

V5876I

>10

This study

18475A>G

88

M6159V

2

This study

WHRN

229A>T

1

T77S

1

1/468

[98]

979C>A

4

L327I

1

This study

1318G>A

6

A440T

>10

[99]

1838T>C

9

M613T

>10

This study

2348T>C

10

V783A

>10

[99]

2388C>A

10

N796K

>10

[99]