Table 2.
Candidate genes and variant in silico analysis.
| Variant information (hg19) | Pathogenicity | Population frequencies | |||||
|---|---|---|---|---|---|---|---|
| Gene | cDNA position | Protein position | Effect | Zygosity | dbSNFP | CADD | AF |
| TNIP2 | NM_024309.3:c.697A>G | NP_077285.3:p.Ser233Gly | Missense | Heterozygous | 12/19 | 25.8 | 0 |
| TRAF2 | NM_021138.3:c.417C>A | NP_066961.2:p.Cys139Ter | Non-sense | Heterozygous | 5/9 | 35 | 0 |
Variants were annotated with the human reference genome hg19. Pathogenicity in silico prediction was obtain from the aggregation database dbSNFP and CADD (Table 1 for more info). AF, Alleled frequency was estimated from several population pseudo-control databases: gnomAD genomes (v2.1.1), gnomAD exomes (v2.1.1), Kaviar (version 160204-Public), Beacon (v2.0), 1000G, Phase III and Bravo.