A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Table 2
The process of identifying the disease-causing variant involved several filtering steps.
Filtration steps
Number of variants detected
Total variants detected in affected individuals (III-3)
71,630
The number of variants remaining after filtering out synonymous variants
35,466
The number of variants remaining after filtering out common variants with a minor allele frequency (MAF) of less than 0.01
5,127
Total homozygous variant (autosomal recessive)
20
Total homozygous missense variants detected
17
Total no. of frameshift variants
2
Total nonsense variant
1
Total variant segregated in all the affected individuals
