Gene

Exon/Intron

Codon　Location

Nucleotide　Change

1

SLC26A4

exon4

139

322delC

2

SLC26A4

exon4

P123S

367C→T

3

SLC26A4

exon5

M147V

439A→G

4

SLC26A4

int5/exon6

Acceptor

601-1G→A

5

SLC26A4

exon7

306

917insG

6

SLC26A4

int7/exon8

Acceptor

919-2A→G

7

SLC26A4

exon8/int8

Donor

1001+1G→A

8

SLC26A4

exon9

K369E

1105A→G

9

SLC26A4

exon9

A372V

1115C→T

10

SLC26A4

exon10

N392Y

1174A→T

11

SLC26A4

exon10

T410M

1229C→T

12

SLC26A4

exon15

551

1652insT

13

SLC26A4

exon15

C565Y

1693G→A

14

SLC26A4

exon17

S610X

1829C→A

15

SLC26A4

exon17

S657N

1970G→A

16

SLC26A4

exon17

S666F

1997C→T

17

SLC26A4

exon19

704

2111ins5bp

18

SLC26A4

exon19

T721M

2162C→T

19

SLC26A4

exon19

H723R

2168A→G

20

GJB2

exon2

79

235delC

21

GJB2

exon2

V37I

109G→A

22

GJB2

exon2

G45E

134G→A

23

GJB2

exon2

Y136X

408C→A

24

GJB2

exon2

59

176-191del(16)

25

欠番

欠番

欠番

欠番

26

GJB2

exon2

R143W

427C→T

27

GJB2

exon2

100

299-300del(2)

28

GJB2

exon2

F191L

570T→C

29

GJB2

exon2

I71T

212T→C

30

GJB2

exon2

T86R

257C→G

31

GJB2

exon2

A49V

146C→T

32

GJB2

exon2

12

35delG

33

EYA1

exon8

R264X

790C→T

34

EYA1

exon7

Y193X

579C→G

35

EYA1

exon12

D396G

1187A→G

36

COCH

exon5

A119T

441G→A

37

KCNQ4

exon5

W276S

827G→C

38

MYO7A

exon22

886

2656del(9)

39

TECTA

exon16

R1773X

5318C→T

40

TECTA

exon20

R2121H

6063G→A

41

POU3F4

exon1

201

601del(6)

42

Mito

1555A→G

43

Mito

3243A→G

44

Mito

7445A→G

45

Mito

8296A→G

46

CRYM

exon8

K314T

941A→C

47

CRYM

exon8

X315Y

945A→T