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Table 2 Non-pathogenic variants of OTOF identified in this study

From: OTOF mutation screening in Japanese severe to profound recessive hearing loss patients

Exon DNA level Protein level Occurrence in this work (chromosome) Control (chromosome) References
Exon 3 c.145C>T p.R49W 5/320 10/238 [13]
Exon 3 c.157G>A p.A53T 2/320 3/238 [23, 24]
Exon 3 c.158C>T p.A53V 42/320 110/238 [23]
Exon 4 c.244C>T p.R82C 14/320 27/376 [23]
Exon 21 c.2452C>T p.R818W 1/320 3/356 [12]
Exon 40 c.5026C>T p.R1676C 1/320 3/356 [21]