Table 1.
Nucleotide change | Amino acid change | BRCA status |
---|---|---|
c.1624G>A | p.E542K | BRCAX |
c.1639G>A | p.E547K | BRCAX |
c.1624G>A, c.1639G>A | p.E542K, p.E547K | BRCAX |
c.3140A>G | p.H1047R | BRCAX |
c.3140A>G | p.H1047R | BRCAX |
c.3140A>G | p.H1047R | BRCA1 del exons 21_24 |