Table 4. Summary of variants.

Gene	Sample Number	Exons/ Introns	Variants Type	Variants	Amino Acid Change	References
FOXI1	1	exon1	Missense	c.519C>A	p.H173Q	de novo
FOXI1	1	exon2	Missense	c.716C>T	p.P239L	[25]
SLC26A4	1	exon2	Missense	c.2T>C	p.M1T	[26]
SLC26A4	1	exon2	Missense	c.109G>T	p.E37X	[27]
SLC26A4	1	exon3	Missense	c.269C>T	p.S90L	[3]
SLC26A4	1	exon5	Missense	c.422T>C	p.F141S	[28]
SLC26A4	1	exon5	Missense	c.589G>A:	p.G197R	[27]
SLC26A4	5	exon6	Missense	c.754T>C	p.S252P	[3]
SLC26A4	24	IVS7	Splicing	c.919-2A>G	-	[29]
SLC26A4	1	exon8	Deletion	c.923_929del	p.308_310del	Novel
SLC26A4	1	IVS8	Splicing	c.1002-8C>G	-	Novel
SLC26A4	1	exon9	Missense	c.1079C>T	p.A360V	[30]
SLC26A4	1	exon10	Missense	c.1173C>A:	p.S391R	[31]
SLC26A4	2	exon10	Missense	c.1174A>T	p.N392Y	[3]
SLC26A4	9	exon10	Missense	c.1229C>T	p.T410M	[32]
SLC26A4	1	exon12	Missense	c.1343C>T	p.S448L	[33]
SLC26A4	2	exon14	Insertion	c.1547dupC	p.F515fs	[3]
SLC26A4	1	exon15	Insertion	c.1694dupA	p.F565fs	[34,35,36]
SLC26A4	1	exon16	Missense	c.1716T>A	p.F572L	[37]
SLC26A4	1	exon16	Missense	c.1786C>T	p.Q596X	[38]
SLC26A4	1	exon17	Missense	c.1975G>C	p.V659L	[39]
SLC26A4	2	exon17	Missense	c.2000T>C	p.F667S	[40]
SLC26A4	1	exon19	Missense	c.2162C>T	p.T721M	[41]
SLC26A4	5	exon19	Missense	c.2168A>G	p.H723R	[4]

Novel refers to variants were absent in 100 control subjects and not reported in the dbSNP, 1000 Genomes Project database and the Exac exome variant database.

de novo refers to variants were absent in the parents, 100 control subjects and not reported in the dbSNP, 1000 Genomes Project database and the Exac exome variant database.