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

Table 2 Mutations identified by targeted capture and MPS in families with non-syndromic hearing loss

Proband	Inheritance	Genomic coordinates^a	Reference reads	Variant reads	Total reads	Gene	cDNA (RefSeq ID)	Protein (RefSeq ID)	PolyPhen-2 HumVar score
D28C	Recessive	chr9:75435804 C > T	643	666	1,309	TMC1	c.1810C > T (NM_138691)	p.R604X (NP_619636)	Nonsense
		chr9:75435933 T > C	770	707	1,477	TMC1	c.1939T > C (NM_138691)	p.S647P (NP_619636)	0.912
Z686A	Recessive	chr10:73565593 G > T	0	425	425	CDH23	c.7903G > T (NM_022124.5)	p.V2635F (NP_071407)	0.876
Z421A	Recessive	chr17:18058028 G > A	43	43	86	MYO15A	c.8183G > A (NM_016239)	p.R2728H (NP_057323)	0.992
		chr17:18022487 delCG^b				MYO15A	c.373delCG (NM_016239)	p.R125VfsX101 (NP_057323)	Frameshift
DC5	Recessive	chr17:1,035800 G > A	0	89	89	MYO15A	c.4240G > A (NM_016239)	p.E1414K (NP_057323)	0.971
K13576A	Dominant	chr4:6304112 G > A	86	90	176	WFS1	c.2756G > A (NM_001145853)	p.E864K (NP_001139325)	0.959
W1098A	Dominant	chr11:121038773 C > T	855	808	1,663	TECTA	c.5597C > T (NM_005422.2)	p.T1866M (NP_005413)	0.995

ISSN: 1474-760X