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

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

   Rare variants Potentially functional variants
Proband Inheritance SNP Private indels Total Nonsense Missensea 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
  1. aMissense variants predicted to be benign by PolyPhen2 and SIFT are excluded from the missense mutations listed above.