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Table 1 Pathogenic sequence variants identified in this study

From: Screening mutations of OTOFgene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

Exon DNA level Protein level Consequence Subject Age of Onset (year) Control chromo-some
13 c.1194 T > A p.D398 E Missense 0501207 19 0/184
16 c.1740delC p.S581PfsX40 Frameshift 0501800 0 0/184
16 c.1780 G > A p.E594K Missense 0501768 12 0/184
25 c.2975_2978 p.Q994VfsX6 Frameshift 0400695 1 0/184
  delAG      
40 c.4819C > T p.R1607W Missense 0400695 1 0/184
  1. *Nomenclature of mutations is based on GenBank reference sequence accession number NM_194248.1. The nucleotide 1 is its first nucleotide of the translation initiation codon.