| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49483384G>A | CA274694 | ERCC6 | c.1954C>T (p.Arg652Ter) n.2032C>T c.1795C>T (p.Arg599Ter) n.408C>T c.*346C>T (n.*346C>T) c.64C>T (p.Arg22Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.49483384G>T | CA5495813 | ERCC6 | c.1954C>A (p.Arg652=) n.2032C>A c.1795C>A (p.Arg599=) n.408C>A c.*346C>A (n.*346C>A) c.64C>A (p.Arg22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |