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Descriptions of pathogenic and likely pathogenic mutations among patients with unknown HER2 status.
| Gene | Transcript | Variant and Protein |
|---|---|---|
| BRCA1 | Unavailable | Unavailable |
| CHEK2 | NM_007194 | c.349A>G;p.(Arg117Gly) |
| RAD51C | NM_058216 | c.404G>A;p.(Cys135Yhr) |
| BRCA1 | NM_007294 | c.192T>G;p.(Cys64Trp) |
| BRCA2 | NM_000059 | c.6202dup;p.(Ile2068Asnfs*10) |
| BRCA2 | NM_000059 | c.5216dup;p.(Tyr1739*) |
| RAD51C | NM_058216 | c.404G>A;p.(Cys135Tyr) |
Legend: *: stop codon.
