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

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

Proband Inheritance Genomic coordinatesa 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 delCGb     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
  1. ahg19. bDetected as two SNPs by MPS (see explanation in text).