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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]