Table 1.
GENE | CHR | POSITION | REF | ALT | HGVS.c | HGVS.p | COVERAGE | ALLELE COVERAGE |
FREQUENCY | CLINVAR | CLINVAR STATUS | CANCERVAR | gnomAD | CADD |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3CA | chr3 | 179234297 | A | G | c.3140A>G | p.His1047Arg | 120 | 79,41 | 34.17 % | Pathogenic | 3 | Tier_II_potential [10] | . | 22.5 |
TP53 | chr17 | 7675088 | C | T | c.524G>A | p.Arg175His | 70 | 31,39 | 55.71 % | Pathogenic | 2 | Tier_I_strong [11] | 1.548e-05 | 23.4 |
NFKB2 | chr10 | 102400117 | G | CLI | c.1507G>C | p.Val503Leu | 68 | 35,33 | 48.53 % | . | -1 | Tier_III_Uncertain [3] | . | 23.7 |
ATM | chr11 | 108312478 | G | C | c.5986G>C | p.Glu1996Gln | 106 | 58,48 | 45.28 % | . | -1 | Tier_II_potential [8] | . | 24.1 |