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 | |
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] |