Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

Table 2 Mutations identified in deaf families with dominant or maternal inheritance

Family ID	Gene	Type of variation	Nucletide change	Amino acid change	Phylop Score^a	Mutation Taster	PROVEAN (score)^b	SIFT (score)^c	Novelty
D372	MYO6	Nonsense	c.2944C>T	p.Q982X	-	DC^d	-	-	Novel
D385	TECTA	Missense	c.4525T>G	p.C1509G	4.762	DC	DC (−9.54)	DC (0.004)	Reported [12]
D882	COCH	Missense	c.260G>T	p.G87V	4.748	DC	DC (−5.63)	DC (0.000)	Novel
P59	POU4F3	Frame shift	c.603_604delGG	-	-	DC	-	-	Novel
D1037	MTTS1	Mitochondrial	T7511C	-	-	DC	-	-	Reported [13, 14]

^aScore ranges from −14 (not conserved) to 6 (conserved); ^bNegative and positive scores indicate deleterious and neutral, respectively, with cut-off score set at −1.3; ^cScore ranges from 0 (deleterious) to 1 (neutral), with cut-off score set at 0.05. ^dDC: Disease causing.