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. 2013 Sep 22;14:95. doi: 10.1186/1471-2350-14-95

Table 2.

Non-pathogenic variants of OTOF identified in this study

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]