Cell line | CDS position | Exon | Frequency of the alternate allele | VEP prediction | Fido-SNP prediction | |
---|---|---|---|---|---|---|
BRCA1 | GL-1 | c.604 A > G | 9 | HE | Tolerated | Benign |
c.715G > A | 10 | HE | Tolerated | Benign | ||
c.1329 A > C | 10 | HE | Deleterious | Pathogenic | ||
c.3619 A > G | 10 | HE | Tolerated | Benign | ||
c.5186G > A | 13 | HE | Tolerated | Benign | ||
BRCA2 | CLBL-1 | c.428 A > Ga | 5 | HE | Tolerated | Pathogenic |
c.1158T > Ga | 10 | HO | Tolerated | Benign | ||
c.2401 A > C | 11 | HE | Deleterious | Benign | ||
c.4304 A > Ga | 11 | HE | Tolerated | Benign | ||
GL-1 | c.428 A > Ga | 5 | HE | Tolerated | Pathogenic | |
c.1158T > Ga | 10 | HE | Tolerated | Benign | ||
c.4304 A > Ga | 11 | HE | Tolerated | Benign | ||
c.6686G > T | 11 | HE | Tolerated | Benign | ||
TP53 | CLBL-1 | c.374 C > T | 5 | HE | Deleterious | Pathogenic |
c.764G > A | 8 | HE | Tolerated* | Pathogenic | ||
GL-1 | c.709 C > T | 7 | HO | Deleterious | Benign | |
ATM | CLBL-1 | c.3431 A > Ta | 25 | HE | Tolerated | Benign |
c.5267T > Ca | 36 | HO | Tolerated | Benign | ||
GL-1 | c.3431 A > Ta | 25 | HO | Tolerated | Benign | |
c.5267T > Ca | 36 | HO | Tolerated | Benign | ||
ATR | CLBL-1 | c.539G > A | 4 | HO | Tolerated** | Pathogenic |