| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49482809G>A | CA115159 | ERCC6 | c.2047C>T (p.Arg683Ter) n.2125C>T c.1888C>T (p.Arg630Ter) c.*439C>T (n.*439C>T) c.157C>T (p.Arg53Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49482809G= | CA1908760460 | ERCC6 | c.2047C= (p.Arg683=) n.2125C= c.1888C= (p.Arg630=) c.*439C= (n.*439C=) c.157C= (p.Arg53=) | dbSNP |
| 10 | g.49482809G>C | CA376724385 | ERCC6 | c.2047C>G (p.Arg683Gly) n.2125C>G c.1888C>G (p.Arg630Gly) c.*439C>G (n.*439C>G) c.157C>G (p.Arg53Gly) | ClinVar dbSNP |
| 10 | g.49482809G>T | CA469604046 | ERCC6 | c.2047C>A (p.Arg683=) n.2125C>A c.1888C>A (p.Arg630=) c.*439C>A (n.*439C>A) c.157C>A (p.Arg53=) | dbSNP gnomAD v4 |