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. Author manuscript; available in PMC: 2017 Mar 1.
Published in final edited form as: Hear Res. 2016 Feb 2;333:179–184. doi: 10.1016/j.heares.2016.01.018

Table 1.

Identified causative variants in 14 samples (4 samples remain unsolved).

Sample ID Sample Status Gene Transcript Nucleotide change Protein Change
1 Positive control TMC1 NM_138691.2 c.[1589_1590delCT];[1589_1590delCT] p.[Ser530*];[Ser530*]
2 Positive control MYO15A NM_016239.3 c.[4652C>A];[4652C>A] p.[Ala1551Asp];[Ala1551Asp]
3 Positive control CIB2 NM_006383.3 c.[330T>A];[330T>A] p.[Tyr110*];[Tyr110*]
4 Positive control TMC1 NM_138691.2 c.[1718T>A];[2130-1delG] p.[Ile573Asn];splice acceptor
5 Positive control GJB2 NM_004004.5 c.[35delG];[35delG] p.[Gly12Valfs*2];.[Gly12Valfs*2]
6 Positive control GJB2 NM_004004.5 c.[35delG];[−23+1G>A] p.[Gly12Valfs*2];splice acceptor
7 Solved USH2A NM_206933.2 c. [2299delG];[12067-2A>G] p.[Glu767Serfs*21];splice acceptor
8 Solved GJB2 NM_004004.5 c.[427C>T];[269T>C] p.[Arg143Try];[Leu90Pro]
9 Solved MITF NM_000248.3 c.[1195G>A];[=] p.[Gly399Arg];[=]
10 Solved GJB2 NM_004004.5 c.[35delG];[139G>T] p.[Gly12Valfs*2];[Glu47*]