Table 1.

Predicted impact of the remaining variants after filtration of the CES results.

Gene	Patient ID	Variant type	cDNA variant	Amino acid change	Classification
BDP1	YMN3	Exonic-NC*	n.2439A>T	*NA	Likely benign
CLDN14	YMN3 YMN5 YMN8	Nonsense	c.414G>A	p.Trp138Ter	Pathogenic
SLC26A2	YMN5	Missense	c.1721T>C	p.Ile574Thr	Benign
NARS2	YMN5	5UTR	c.-854C>T	*NA	Uncertain significance
CDH23	YMN8	5UTR	c.-35_-31dup	*NA	Likely benign

*NC, Exonic Non coding; *NA, Not available.