*Curated variant classification of novel and previously reported variants of uncertain significance is given based on data of present study as per ACMG guidelines. PM2: Pathogenic moderate 2 [Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium] PVS1: Pathogenic very strong [null variant (nonsense, frameshift, canonical ±1 or 2 splice sites, initiation codon, single or multiexon deletion) in a gene here LOF is a known mechanism of disease)] PP1:[Cosegregation with disease in multiple affected family members in a gene definitively known to cause disease] PP2: Pathogenic supporting 2 [Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease] PP3: Pathogenic supporting 3 [Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.)] PP4: Pathogenic supporting 4 [Patient's phenotype or family history is highly specific for a disease with a single genetic etiology]. Sequence variant nomenclature was obtained according to the guidelines of the Human Genome Variation Society (HGVS) by using Mutalyzer. The position of each variant is as per GRCh37/hg19 reference genome assembly.