Patient (30–22) | |
---|---|
Total sequence reads | 93,205,604 |
Matched Reads (percentage of reads) | 91,298,272 (97.95%) |
Total number of variants detected | 187,202 |
Variants which are not common dbSNP138 (MAF > 1%) (A) | 37,206 |
Variants which are not present in 32 control of healthy individuals | 9487 |
Variants which are nonsynonymous or located in splice junction (B) | 622 |
% B / A | 1.67% |
Located within splice site | 31 |
Deletion/Insertion | 33 |
Stop codon gained / Stop codon lost | 5 |
Missense | 553 |
SNPs after inspection of MAF < 0.05% & amino acid conservation | 168 |
Located within splice site | 7 |
Deletion/Insertion | 3 |
Stop codon gained / Stop codon lost | 5 |
Missense | 153 |
Variant in 129 genes known to deafness genes | 4 |
Sanger confirmation / Segregation | 2 |
Causative mutation | WFS1 |