Indian J Nephrol Close
 

Figure 1: (a) Visualisation of the next generation sequencing (NGS) data for case 1 aligned to the reference genome shows a homozygous deletion of four bases (in pink) in DGKE exon 4 resulting in a frameshift that is predicted to be pathogenic. (b) Snapshot of Mutation Surveyer software (SoftGenetics. Pennsylvania, USA) highlighting the homozygous deletion in case 1. (c) NGS data for case 2 aligned to the reference genome shows homozygous deletion of nine bases (pink) in DGKE exon 2 resulting in a deletion of three amino acids (A-F-C), which was predicted to be variant of unknown significance possibly pathogenic

Figure 1: (a) Visualisation of the next generation sequencing (NGS) data for case 1 aligned to the reference genome shows a homozygous deletion of four bases (in pink) in <i>DGKE</i> exon 4 resulting in a frameshift that is predicted to be pathogenic. (b) Snapshot of Mutation Surveyer software (SoftGenetics. Pennsylvania, USA) highlighting the homozygous deletion in case 1. (c) NGS data for case 2 aligned to the reference genome shows homozygous deletion of nine bases (pink) in <i>DGKE</i> exon 2 resulting in a deletion of three amino acids (A-F-C), which was predicted to be variant of unknown significance possibly pathogenic