Table 3 Description of pathogenic and likely pathogenic variants identified in the south Indian steroid resistant nephrotic syndrome cohort
Patient ID | Gene | Zygosity | Nucleotide Change | Amino acid Change | Mutation type | ACMG classification | Prediction | ExAC | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
dbSNP (Build 146) | SIFT | PolyPhen-2 | fathmm | Mutation Taster | splicing Predictions-NNSPLICE,ASSP | Alternative allele count | Allele number | No.of h/hemi | Allele frequency | |||||||
SRNS20, SRNS76 | NPHS2 | Homozygous | c.211C>T | p.R71X | Nonsense | Pathogenic | NA | NA | NA | NA | NA | NA | 0 | 0 | 0 | 0 |
SRNS123 | PLCe1 | Homozygous | c.2254C>T | p.R752X | Nonsense | Likely Pathogenic | NA | NA | NA | NA | NA | NA | 1 | 120380 | 0 | 0 |
SRNS83 | NPHS2 | Homozygous | g.179521737C>T | Â | Splice site | Likely Pathogenic | NA | NA | NA | NA | NA | Y,Y | 0 | 0 | 0 | 0 |
SRNS13 | NPHS1 | Homozygous | c.2903G>T | p.G968V | Missense | Likely Pathogenic | NA | NA | Y (Possibly damaging - 0.887) | Y | Disease causing | NA | 0 | 0 | 0 | 0 |