Table 2. Pathogenic variants reported in DFNB31 with respective phenotype.

Location in the genomic sequence	Codon change	Amino acid change	Functional consequence	phenotype	Publications
Exon 1	c.307C>T	p.Gln103Stop	Protein truncation or NMD affecting PDZ1/PDZ2 domains	Usher type II	[19]
Exon 2	c.737delC	p.Pro246HisfsX13	Protein truncation or NMD affecting PDZ1/PDZ2 domains	Usher type II	Present study
Intron 2	c.837+1G>A	Splice mutation in donor site of exon 2	In-frame skipping of exon 2 resulting in PDZ1 and PDZ2 fusion	Usher type II	[19]
Exon 10	c.2332C>T	p.Arg778Stop	Protein truncation or NMD affecting PDZ3	ar deafness	[21]
Exon 11	c.2423delG	p.Gly808AspfsX11	Protein truncation or NMD affecting PDZ3	ar deafness	[22]