Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss

Table 1

Mutations detected in six Chinese Han families.

Family ID	Gene	Mutation; type	Nucleotide change (transcript version)	Amino acid change	Phylop score	Mutation; taster	PROVEAN (score)	SIFT (score)	Allele frequency in controls	Novel or HGMD
Recessive
NT-1	CDH23	Missense	c.4762C>T	p.R1588W	3.822	DC	Deleterious	Damaging	0/400	HGMD
			(NM_022124)				(−3.136)	−0.001
	CDH23	Missense	c.5418C>G	p.D1806E	−1.832	DC	Neutral	Damaging	0/400	HGMD
			(NM_022124)				(−0.778)	−0.007
NT-2	CDH23	Missense	c.2890C>T	p.R964W	0.855	DC	Deleterious	Damaging	0/400	Novel
			(NM_022124)				(−2.783)	−0.005
	CDH23	Missense	c.4762C>T	p.R1588W	3.822	DC	Deleterious	Damaging	0/400	HGMD
			(NM_022124)				(−3.136)	−0.001
NT-3	CDH23	Missense	c.49G>T	p.G17C	0.8	—	Deleterious	—	0/400	Novel
			NM_001171935				(−4.405)
	CDH23	Missense	c.4346G>A	p.G1449D	5.967	DC	Deleterious	Tolerated	0/400	HGMD
			(NM_022124)				(−2.886)	−0.233
NT-4	LOXHD1	Missense	c.1751C>T	p.T584 M	9.151	DC	Deleterious	Damaging	0/600	Novel
			(NM_144612)				(−4.6)	−0.001
	LOXHD1	Missense	c.5815G>A	p.D1939N	7.672	DC	Deleterious	Damaging	0/600	Novel
			(NM_144612)				(−2.51)	−0.01
Dominant
NT-5	MYO7A	Missense	c.3674C>T	p.P1225L	5.846	DC	Deleterious	Damaging	0/600	Novel
			(NM_000260)				(−7.82)	−0.03
NT-6	EYA4	nonsense	c.1834A>T	p.K612X	7.21	DC	—	—	0/600	Novel
			(NM_004100)