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Table 3 Novel or rare variants identified in our screen

From: Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia

Case Position ref genotype MAF gene protein coding SIFT (score) polyphen dbsnp transcript
147 chr2:26689695 G G/C NA OTOF p. Pro1463Ala c.4387C > G Damaging (0) Probably damaging (0.965) Novel NM_194248.2
chr2:26750782 G G/A 0.008 OTOF p. Arg49Trp c.145C > T Damaging (0) Probably damaging (1) rs61746568  
144 chr2:26695500 A A/C 0.009 OTOF p. Cys1251Gly c.3751 T > G Tolerated (0.46) Benign (0) rs41288773 NM_194248.2
chr2:26750782 G G/A 0.008 OTOF p. Arg49Trp c.145C > T Damaging (0) Probably damaging (1) rs61746568  
151 chr2:26696374 C C/T 0.006 OTOF p. Arg1157Gln c.3470G > A Tolerated (1) Probably damaging (1) rs56054534 NM_194248.2
chr2:26781384 C C/T 0 OTOF p. Arg19Gln c.56G > A Damaging (0.006) Probably damaging (1) rs200316189  
197 chr10:55779975 C C/A 0.001 PCDH15 p. Ala915Ser c.2743G > T Damaging (0.05) Probably damaging (1) rs139175351 NM_001142763.1
chr10:55782743 A A/G 0.006 PCDH15 p. Ile817Thr c.2450 T > C Damaging (0.023) Probably damaging (0.998) rs61731363  
350 chr10:55779975 C C/A 0.001 PCDH15 p. Ala915Ser c.2743G > T Damaging (0.05) Probably damaging (1) rs139175351 NM_001142763.1
chr10:55782743 A A/G 0.006 PCDH15 p. Ile817Thr c.2450 T > C Damaging (0.023) Probably damaging (0.998) rs61731363  
888 chr10:55779975 C C/A 0.001 PCDH15 p. Ala915Ser c.2743G > T Damaging (0.05) Probably damaging (1) rs139175351 NM_001142763.1
chr10:55782743 A A/G 0.006 PCDH15 p. Ile817Thr c.2450 T > C Damaging (0.023) Probably damaging (0.998) rs61731363  
873 chr3:121712010 A A/G NA ILDR1 p. Val529Ala c.1586 T > C Tolerated (1) Benign (0.39) Novel NM_001199799.1
chr7:129414567 C C/T NA MIR96      rs370173345 NR_029512.1