Table 3 Pathogenicity analysis of novel variants

CDH23

c.805C>T

p.R269W

PD(1.000)

N(− 2.154)

LP

Yes

PM1, PM2, PP1, PP3

CDH23

c.5994delG

p.V1998fs

–

–

P

Yes

PVS1, PM2, PM4

CDH23

c.5957T>C

p.L1986P

PD(1.000)

N(− 0.743)

LP

Yes

PM1, PM2, PP1, PP3

CDH23

c.6830C>A

p.A2277D

PD(0.999)

N(− 2.146)

LP

Yes

PM1, PM2, PP1, PP3

GJB6

c.228delC

p.W77Gfs

–

–

P

Yes

PVS1PM2 PM4

GPR98

c.12640C>T

p.Q4214X

–

–

P

Yes

PVS1, PM2, PP3

LOXHD1

c.2295G>A

p.W765X

–

–

P

Yes

PVS1, PM2, PP3

LOXHD1

c.134A>C

p.Y45S

PD(0.999)

D(− 5.352)

LP

Yes

PM1, PM2, PP1, PP3

LOXHD1

c.6355delG

p.A2119fs

–

–

P

Yes

PVS1, PM2, PM4

MYO15A

c.6611G>A

p.R2204H

PD(1.000)

D(− 4.955)

LP

Yes

PM1, PM2, PP1, PP3

OTOA

c.774A>C

p.L258F

PD(1.000)

N(− 2.150)

LP

Yes

PM2, PM3, PP1, PP3

POU3F4

c.881A>G

p.E294G

PD(1.000)

D(− 7.000)

LP

Yes

PM1, PM2, PP1, PP3

STRC

c.4778C>T

p.A1593V

PD(0.999)

D(− 3.044)

LP

Yes

PM2, PM3, PP1, PP3

TMC1

c.741+2T>C

splice

–

–

P

Yes

PVS1, PM2, PM4

TNC

c.1641C>A

p.C547X

–

–

P

Yes

PVS1, PM2, PP3

TRIOBP

c.1960C>T

p.R654X

–

–

P

Yes

PVS1, PM2, PP3

TRIOBP

c.5968delT

p.F1990fs

–

–

P

Yes

PVS1, PM2, PM4

USH2A

c.3791delC

p.S1264fs

–

–

P

Yes

PVS1, PM2, PM4