Table 4.

SLC26A4 genotypes, haplotypes and phenotypes of NIH subjects with enlargement of the vestibular aqueduct and a benign or indeterminate variant on one allele

Family	Subject	Ancestry	Allele 1 genotype*	Allele 2 haplotype	HL/EVA†	Thyroid
118	1166	Caucasian	p.Leu597Ser	Reference	B	NS
118	1167	Caucasian	p.Leu597Ser	Reference	R	NS
133	1281	Caucasian	p.Arg776Cys	Reference	B	NS
133	1282	Caucasian	p.Arg776Cys	Reference	R	NS
145	1422	Caucasian	p.Leu597Ser	Reference	B	I
147	1702	Caucasian	p.Met775Thr‡	CEVA	R	I
147	1703	Caucasian	p.Met775Thr‡	CEVA	B	I
176	1473	Caucasian	p.Leu597Ser	Reference	B	NS
182	1495	Caucasian	p.Phe335Leu	Reference	B	NS
218	1590	Black	p.Val609Gly	Reference	B	I
219	1598	Caucasian	c.-5A>G	Reference	B	NS
223	1643	Caucasian	c.-66C>G	Reference	B	I
229	1619	Caucasian	p.Leu597Ser	Reference	B	I
231	1639	Caucasian	p.Arg776Cys	Reference	L	I
240	1649	Multiracial	p.Leu597Ser	Reference	B	I
255	1691	Multiracial	p.Leu597Ser	Reference	B	NS
259	1726	Black	c.-60A>G	Reference§	L	I
278	1791	Caucasian	p.Leu597Ser	Reference	B	NS
341	1986	Caucasian	p.Gly6Val;p.Leu597Ser	Reference	B	NS
341	1981	Caucasian	p.Leu597Ser	Reference	B	I
388	2106	Caucasian	p.Asp324Tyr	Reference	B	NS
388	2107	Caucasian	p.Asp324Tyr	Reference	B	NS
388	2108	Caucasian	p.Asp324Tyr	Reference	B	NS

^*Alleles are considered benign, indeterminate or pathogenic only in trans with a mutation affecting coding regions or splice sites of SLC26A4.

^†Hearing loss with enlargement of the vestibular aqueduct affecting right (R), left (L) or both ears (B).

^‡p.Met775Thr is in cis and trans with CEVA; the subject is homozygous for CEVA.

^§p.Val609Gly carried on allele 2.

I, indeterminate; NS, non-syndromic.