Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

Table 1 Numbers of rare variants detected in genomic DNA of probands with hearing loss

		Rare variants			Potentially functional variants
Proband	Inheritance	SNP	Private indels	Total	Nonsense	Missense^a	Splice junctions	Frameshift	Total
D28C	Recessive	24	14	38	0	9	0	0	9
Z686A	Recessive	17	13	30	0	7	1	0	8
Z421A	Recessive	20	8	28	0	6	1	1	8
K13576A	Dominant	31	42	73	0	13	1	0	14
W1098A	Dominant	38	8	46	0	15	2	0	17
DC5	Recessive	21	47	68	0	5	0	0	5
DQ3	Recessive	26	58	84	0	11	0	0	11
DR3	Recessive	18	60	78	1	6	1	0	8
CJ3	Recessive	19	52	71	0	3	0	0	3
CK3	Recessive	29	61	90	0	9	1	0	10
DE3	Recessive	26	53	79	1	8	1	0	10

^aMissense variants predicted to be benign by PolyPhen2 and SIFT are excluded from the missense mutations listed above.

ISSN: 1474-760X