Table 1.

List of all mutations in SANS

List of all known mutations identified in SANS.

Country	Exon	Mutationa	Consequence	Hearing Loss	Reference
Germany	1	c.143 T>C*	p.L48P	Profound	2
	2	c.186_187delCA	Frameshift
Tunisia	2	c.393insG	Frameshift	Profound	2
Jordan	2	c.832_851del20**	Frameshift	Profound	2
U.S.A	1	c.113 G>A	p.W38X	Profound	5
Turkey	2	c.1373 A>T	p.D458V	Variable (moderate to profound)	4
Pakistan	1	c.163_164+13del15	Frameshift	Moderate to severe	This report

^aNumbers with respect to the open reading frame of SANS, corresponding to cDNA sequence from GenBank (AK091243) with the first nucleotide in the initiation codon designated as “+1”.

^*Originally reported as c.142 C>T.

^**Originally reported as 829_848del20.