Table 1.

COCH mutations in DFNA9

Origin	Exon	Nucleotide change	Amino acid change	Protein domain	Reference
Belgium & The Netherlands	4	C207T	P51S	FCH/LCCL	(Fransen et al., 1999) (de Kok et al., 1999)
United States	4	T253G	V66G	FCH/LCCL	(Robertson et al., 1998)
The Netherlands	5	G315T	G87W	FCH/LCCL	(Collin et al., 2006)
United States & The Netherlands	5	G319A	G88E	FCH/LCCL	(Robertson et al., 1998) (Kemperman et al., 2005)
Hungary	5	366_368delGTA	V104del	FCH/LCCL	(Nagy et al., 2004)
The Netherlands	5	T382C	I109T	FCH/LCCL	(Pauw et al., 2007)
Australia	5	T382A	I109N	FCH/LCCL	(Kamarinos et al., 2001)
United States & Korea	5	T405C	W117R	FCH/LCCL	(Robertson et al., 1998) (Baek et al., 2010)
Japan	5	G411A	A119T	FCH/LCCL	(Usami et al., 2003)
China	12	T1591C	M512T	vWFA2	(Yuan et al., 2008)
United States	12	G1681T	C542F	vWFA2	(Street et al., 2005)
China	12	G1681A	C542Y	vWFA2	(Yuan et al., 2008)