Table 1. Bi-allelic mutations of SLC26A4 and GJB2 in 15 families with sporadic congenital hearing loss.

Patient	Sex	Age	Gene	Genomic change	Protein change	Location	Mutation type	HGMD
YUEVA 38	M	4y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.439 A > G	p.Met147Val	Exon 5	Missense	yes
YUEVA 59	M	2y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.919-2 A > G	Splicing	Intron 7	Splicing variant	yes
YUEVA 60	M	3y	SLC26A4	c.2027_2028insT	p.Arg677Alafs*11	Exon 17	Insertion	yes
				c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
YUEVA 61	F	2y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.919-2 A > G	Splicing	Intron 7	Splicing variant	yes
YUEVA 65	M	2y	SLC26A4	c.1229 C > T	p.Thr410Met	Exon 10	Missense	yes
				c.81 C > A	p.Tyr27*	Exon 2	Nonsense	no
YUEVA 67	M	11 m	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.919-2 A > G	Splicing	Intron 7	Splicing variant	yes
YUEVA 69	M	2y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.439 A > G	p.Met147Val	Exon 5	Missense	yes
YUEVA 72	M	4y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.919-2 A > G	Splicing	Intron 7	Splicing variant	yes
YUEVA 73	M	2y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.439 A > G	p.Met147Val	Exon 5	Missense	yes
YUEVA 74	F	2y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
YUEVA 77	F	1y	SLC26A4	c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
				c.2168 A > G	p.His723Arg	Exon 19	Missense	yes
YUEVA 111	M	4y	SLC26A4	c.916_917insG	p.Val306Glyfs*24	Exon 7	Insertion	yes
				c.919-2 A > G	Splicing	Intron 7	Splicing variant	yes
YUHL 6–21	F	5y	GJB2	c.605_606insAGAAG ACTGTCTTCACAG TGTTCATGATTGC AGTGTCTGGAATTTG	p.Cys202*	Exon2	Inserion	yes
				c.9 G > A	p.Trp3*	Exon2	Nonsense	yes
YUHL 11–21	M	10 m	GJB2	c.235delC	p.Leu79Cysfs*3	Exon2	Deletion	yes
				c.427 C > T	p.Arg143Trp	Exon2	Missense	yes
YUHL 19–21	F	11 m	GJB2	c.299_300delAT	p.His100Rfs*14	Exon2	Deletion	yes
				c.427 C > T	p.Arg143Trp	Exon2	Missense	yes

YUHL, Yonsei University hearing loss; YUEVA, Yonsei University enlarged vestibular aqueduct.