Table 3 Genotypes of deafness pedigrees

1

AD

EYA4

NM_004100.4 NP_004091.3

c.1364delG

p.(Gly455^a)

3

1

2

AD

GSDME

NG_011593.1

NM_004403.2

NP_004394.1

c. 991-1G>C

Splicing site

3

3

3

AD

TMC1

NM_138691.2 NP_619636.2

c.1714G>A

p.(Asp572Asn)

3

3

4

AD

ACTG1

NM_001614.4 NP_001605.1

c.638A>G

p.(Lys213Arg)

5

2

5

AD

EYA4

NM_004100.4

NP_004091.3

c.544insA

p.(Phe221^a)

7

8

6

AD

KCNQ4

NM_004700.3 NP_004691.2

c.887G>A

p.(Gly296Ala)

4

2

7

AD

POU4F3

NM_002700.2

NP_002691.1

c.602T>C

p.(Leu201Pro)

2

1

8

AR

MYO7A

NM_000260.3 NP_000251.3

c.[73G>A]; [462C>A]

p.(Gly25Arg); (Cys154^a)

3

4

9

AR

TMPRSS3

NM_024022.2 NP_076927.1

c.[916G>A]; [36delC]

c.[916G>A]; [316C>T]

p.(Ala306Thr); (Phe13Serfs∗12)

p.(Ala306Thr); (Arg106Cys)

2

2

10

AR

TECTA

NM_005422.2 NP_005413.2

c.[257C>G]; [260_262delTTC]

p.(Ser86Cys); (Pro88del)

4

8

11

AR

CDH23

NM_022124.5 NP_071407.4

c.[6220delC]; [1117G>A]

p.(Leu2074^a); (Val373Met)

2

2

12

AR

SLC26A4

NG_008489.1

NM_000441.1

NP_000432.1

c.[919-2A>G]; [1226G>A]

Splicing site; p.(Arg409His)

2

2

13

AR

SLC26A4

NG_008489.1

NM_000441.1

NP_000432.1

c.[1614-6T>G];

[1240_1243delinsGAGA>AAAG]

Splicing site; p.(Glu414_Ser415delinsLysGly)

2

2

14

AR

SLC26A4

NM_000441.1 NP_000432.1

c.[1226G>A]; [1340delA]

p.(Arg409His); (Lys447Serfs*8)

2

2

15

AR

MYO7A

NM_000260.3 NP_000251.3

c.[1991C>T]; [3799G>A]

p.(Thr664Ile); (Gly1267Arg)

2

0

16

X-linked

POU3F4

NM_000307.4 NP_000298.3

c.973delT

p.(Trp325Glyfs*12)

2

4

17

X-linked

POU3F4

NM_000307.4 NP_000298.3

c.927_929delCTC

p.(Ser310del)

4

11