eTable 1.
Patient# | Age, y | Gene | Chromosome position | Amino acid change | Nucleotide change | Function |
---|---|---|---|---|---|---|
1 | 66 | BRCA2 | 13:32911298–9 | p.K936Kfs | c.2808_2811delACAA | Frameshift* |
2 | 60 | BRCA2 | 13:32911298–9 | p.K936Kfs | c.2808_2811delACAA | Frameshift* |
3 | 83 | BRCA2 | 13:32911419 | p.S976Sfs | c.2928delC | Frameshift* |
4 | 63 | BRCA2 | 13:32914401 | p.S1970X | c.5909C>AC | Nonsense* |
5 | 62 | BRCA2 | 13:32914438 | p.S1982Rfs | c.5946delT | Frameshift* |
6 | 61 | BRCA2 | 13:32914438 | p.S1982Rfs | c.5946delT | Frameshift* |
7 | 57 | BRCA2 | 13:32914438 | p.S1982Rfs | c.5946delT | Frameshift* |
8 | 60 | BRCA2 | 13:32914438 | p.S1982Rfs | c.5946delT | Frameshift* |
9 | 59 | BRCA2 | 13:32932067 | Splice | c.7805+1G>A | Noncoding* |
10 | 65 | BRCA2 | 13:32972626 | p.K3326X | c.9976A>T | Nonsense* |
11 | 65 | BRCA2 | 13:32972626 | p.K3326X | c.9976A>T | Nonsense* |
12 | 76 | BRCA2 | 13:32893421 | p.Q92R | c.275A>G | Missense† |
13 | 68 | BRCA2 | 13:32912190 | p.A1233V | c.3698C>T | Missense† |
14 | 58 | BRCA2 | 13:32911703 | p.H1071Y | c.3211C>T | Missense† |
15 | 66 | BRCA2 | 13:32911794 | p.H1101R | c.3302A>G | Missense† |
16 | 54 | BRCA2 | 13:32912586 | p.C1365Y | c.4094G>A | Missense† |
17 | 56 | BRCA2 | 13:32915133 | p.T2214I | c.6641C>T | Missense† |
18 | 49 | BRCA2 | 13:32931943 | p.Q2561R | c.7682A>G | Missense† |
19 | 50 | BRCA1 | 17:41243887 | p.E1221X | c.3661C>A | Nonsense* |
20 | 58 | BRCA1 | 17:41276034 | fs | c.70_80delCAGATGGGACA | Frameshift* |
21 | 61 | BRCA1 | 17:41245975 | p.V525I | c.1573C>T | Missense† |
22 | 57 | BRCA1 | 17:41245975 | p.V525I | c.1573C>T | Missense† |
Known pathogenic variant.
Variant with unknown significance (VUS).