| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49482760dup | CA274700 | ERCC6 | c.2096dup (p.Leu700ValfsTer?) n.2174dup c.1937dup (p.Leu647ValfsTer?) c.*488dup (n.*488dup) c.206dup (p.Leu70ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49482760G= | CA1908760296 | ERCC6 | c.2096C= (p.Thr699=) n.2174C= c.1937C= (p.Thr646=) c.*488C= (n.*488C=) c.206C= (p.Thr69=) | dbSNP dbSNP |