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Table 2 Pathogenic mutations identified in our cohort

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

Position

genotype

gene

transcript

coding

protein

diagnosis

chr2:26700593

A/A

OTOF

NM_194248

c.2239G > T

p. Glu747Ter

Severe to profound

chr1:35250910

G/A

GJB3

NM_001005752

c.547G > A

p. Glu183Lys

Severe to profound

chr11:76890902

A/A

MYO7A

NM_000260

c.2489G > A

p. Arg830His

Severe to profound

chr11:76867138

A/A

MYO7A

NM_000260

c.470 + 1G > A

IVS5 + 1G > A

Severe to profound

chr9:75309494

T/T

TMC1

NM_138691

c.100C > T

p. Arg34Ter

Severe to profound