Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Table 2 Filtering strategy in this research to identify the causative variants and the number of variant which were filtered in each step

Total number of variants	26,961
Exonic and splicing variants	23,467
Remove synonymous variants	11,620
Homozygous/ Compound heterozygous	4594
Functional variants with MAF < 0.01	62
Variants matching with the phenotype of the patients and segregate within family	*PDZD7: (p.Ile84Thr)* & *PDE6C: (p.Trp548Ter)*

ISSN: 1755-8794