Table 2 Pathogenic DNA variants

MYO7A

223delG

4

D75fsX31

2

Australia, Italy, France [78]

397dupC

5

H133fsX7

2

This study

490A>T

6

K164X

2

This study

592G>A

6

A198T + splice defect

1

0/306

Algeria [27]

1556G>A

14

G519D/splice defect

1

0/306

USA, France [63]

1690+1G>A

14

Splice defect

1

This study

1996C>T

17

R666X

1

Great Britain, Denmark [62]

2005C>T

17

R669X

1

USA [24]

2283-1G>T

20

Splice defect

2

Algeria [27]

2914C>T

24

R972X

2

Pakistan [79]

3594C>A

28

C1198X

1

This study

3904delT

30

Y1302fsX97

2

This study

5392C>T

39

Q1798X

2

Denmark, German, Great Britain/France [62]

5749G>T

42

E1917X

2

unknown [80]

6025delG

44

A2009fsX32

1

Spain [63]

6070C>T

45

R2024X

1

unknown [80]

USH1C

238_239dupC

3

R80fsX69

3

Pakistan, Europe, Guinea [4]

CDH23

6050-9G>A

46

Splice defect

1

Germany [54]

6404_6405delAG

47

E2135fsX31

1

This study

PCDH15

2971C>T

22

R991X

2

France [27]

USH1G

84dupC

1

D29fsX29

2

This study

113G>A

1

W38X

1

USA [58]

USH2A

920_923dupGCCA

6

H308fsX16

1

Denmark [81]

2299delG

13

E767fsX21

4

Europe, USA, Africa, China [10]

3920C>G

18

S1307X

1

France [82]

4030_4037delATGGCTGG

18

M1344fsX42

1

This study

4474G>T

21

E1492X

1

Spain [83]

5189_5199delATATGTTTCAT

26

Y1730fsX6

1

This study

5776+1G>A

28

Splice defect

1

Norway [28]

7522delT

40

R2509fsX19

1

This study

8970_8971delCA

45

T2991fsX61

2

This study

10586-1G>C

54

Splice defect

1

This study

10684G>T

54

E3562X

1

Denmark, Norway [28]

11864G>A

61

W3955X

1

Netherlands [84]

12381_12382delCT

63

Y4128fsX24

1

This study

15089C>A

70

S5030X

1

France [66]

VLGR1

333_334delTT

3

F112fsX29

1

This study

1563dupT

9

P522fsX8

1

This study

2258_2270delAAGTGCTGAAATC

12

Q753fsX8

1

This study

12552_12553delGG

62

E4186fsX17

1

This study

12961G>T

64

E4321X

1

This study

17668_17669delAT

82

M5890fsX10

1

This study

WHRN

737delC

2

P246fsX13

2

This study