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Table 3 Mutations that failed and had the assays excluded of the panel

From: Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

Gene

Alteration

Protein change

GJB2

c.283G > A

p.V95M

GJB2

c.457G > A

p.V153I

MYO15A

c.6796G > A

p.V2266M

OTOF

c.2122C > T

p.R708*

TMPRSS3

c.1221C > T

p.P404L

TECTA

c.3107G > A

p.C1036Y

TMIE

c.241C > T

p.R81C

CDH23

c.6133G > A

p.D2045N

  1. *translation termination (stop) codon.