Table 2. List of BRCA mutant samples included in the validation set.
Gene | Mutation type | Description |
---|---|---|
BRCA1 | SNVs (polymorphisms | c.181T>G |
excluded) | c.5251C>T | |
c.5074 G>C | ||
Insertions/deletions | c.843_846delCTCA | |
c1016_1017insA | ||
c.1961delA | ||
c.2985delTCTCA | ||
c.3700_3704delGTAAA | ||
c.3756_3759delGTCT | ||
c.4065_4068delTCAA | ||
c.5266dupC | ||
Large rearrangements* | del(ex21_22) | |
dup(ex13) | ||
BRCA2 | SNVs (polymorphisms | c.5645C>A |
excluded) | ||
Insertions/deletions | c.476-9_476-8insT | |
c.1813dupA | ||
c.5073dupA | ||
c.5351_5352insA | ||
c.5946delT | ||
c.7910-7914delCCTTT | ||
c.9098_9099insA | ||
c.9403delC |
The two large rearrangements in the case of BRCA1 are also included in this table.