Table 2.

Summary of results of the massively parallel exome sequencing of two patients with monoallelic mutations in SLC26A4. All variants were found in heterozygous state

Patient	Gene	Nucleotide	Protein	dbSNP	Deafness Variation Database	SIFT (score), PolyPhen2 (score), MutationTaster (score), Splice Prediction Tools	1000g	ESP6500	Abraom
71	SLC26A4	c.1246A>C	T416P	rs28939086	Pathogenic	Damaging (0), Probably Damaging (0.995), Disease causing (0.971541)	0.0000	0.0000	0.0000
	GJB2	c.457G>A	V153I	rs111033186	benign	Tolerated (1), Benign (0.007), Disease causing (0.8156)	0.0013	0.00223	0.0032
	TMIE	c.218C>T	T73M	rs770957465	unknown significance	Tolerated (0.156), Probably Damaging (1), Disease causing (0.999)	0.000	0.000	0.000
	USH1C	c.1823C>G	P608R	rs41282932	Pathogenic	Damaging (0.002), Probably Damaging (0.984), Disease causing ( 0.9815)	0.000	0.001	0.000
	MIR96	129414574A>G		rs41274239	benign	-	0.0010	0.0033	0.0032
	PCDH15	c.4109_4110insGCCGCC	p.P1370delinsPPP	-	not described	-, -. Polymorphism (0.999)	0.0018	0.000	0.0016
	PCDH15	c.5134_5136del	p.1712_1712del	rs397517462	not described	-, -. Polymorphism (0.999)	0.000	0.031	0.0032
83	SLC26A4	c.918+2T>C	-	-	Pathogenic	-, -, Disease causing (1), splice donor site abolished	0.000	0.000	0.0008
	MYO7A	c.2463G>C	Q821H	-	not described	Damaging (0), Probably Damaging (1), Disease causing (0.9999)	0.000	0.000	0.000
	GJB6	c.460T>A	F154I	-	not described	Damaging (0.022), Damaging (0.986), Disease causing (0.9987)	0.000	0.000	0.000
	P2RX2	c.A275G	p.Q92R	rs142844880	unknown significance	Tolerable (0.116), Benign (0.098), Disease causing (1)	0.0004	0.0004	0.000
	POLD1	c.C211T	p.P71S		not described	Tolerable (0.879), Benign (0), non-disease causing (1)	0.000	0.000	0.000
	TSPEAR	c.1185G>T	E395D	rs143303485	not described	Tolerated (0.420), Benign (0.02), Polymorphism	0.0002	0.0002	0.000

In bold, variants that all evidence indicate that they are pathogenic