Skip to main content

Table 3 Novel or rare variants identified in our screen

From: Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia

Case

Position

ref

genotype

MAF

gene

protein

coding

SIFT (score)

polyphen

dbsnp

transcript

147

chr2:26689695

G

G/C

NA

OTOF

p. Pro1463Ala

c.4387C > G

Damaging (0)

Probably damaging (0.965)

Novel

NM_194248.2

chr2:26750782

G

G/A

0.008

OTOF

p. Arg49Trp

c.145C > T

Damaging (0)

Probably damaging (1)

rs61746568

 

144

chr2:26695500

A

A/C

0.009

OTOF

p. Cys1251Gly

c.3751 T > G

Tolerated (0.46)

Benign (0)

rs41288773

NM_194248.2

chr2:26750782

G

G/A

0.008

OTOF

p. Arg49Trp

c.145C > T

Damaging (0)

Probably damaging (1)

rs61746568

 

151

chr2:26696374

C

C/T

0.006

OTOF

p. Arg1157Gln

c.3470G > A

Tolerated (1)

Probably damaging (1)

rs56054534

NM_194248.2

chr2:26781384

C

C/T

0

OTOF

p. Arg19Gln

c.56G > A

Damaging (0.006)

Probably damaging (1)

rs200316189

 

197

chr10:55779975

C

C/A

0.001

PCDH15

p. Ala915Ser

c.2743G > T

Damaging (0.05)

Probably damaging (1)

rs139175351

NM_001142763.1

chr10:55782743

A

A/G

0.006

PCDH15

p. Ile817Thr

c.2450 T > C

Damaging (0.023)

Probably damaging (0.998)

rs61731363

 

350

chr10:55779975

C

C/A

0.001

PCDH15

p. Ala915Ser

c.2743G > T

Damaging (0.05)

Probably damaging (1)

rs139175351

NM_001142763.1

chr10:55782743

A

A/G

0.006

PCDH15

p. Ile817Thr

c.2450 T > C

Damaging (0.023)

Probably damaging (0.998)

rs61731363

 

888

chr10:55779975

C

C/A

0.001

PCDH15

p. Ala915Ser

c.2743G > T

Damaging (0.05)

Probably damaging (1)

rs139175351

NM_001142763.1

chr10:55782743

A

A/G

0.006

PCDH15

p. Ile817Thr

c.2450 T > C

Damaging (0.023)

Probably damaging (0.998)

rs61731363

 

873

chr3:121712010

A

A/G

NA

ILDR1

p. Val529Ala

c.1586 T > C

Tolerated (1)

Benign (0.39)

Novel

NM_001199799.1

chr7:129414567

C

C/T

NA

MIR96

    

rs370173345

NR_029512.1