| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49478437G>C | CA376723766 | ERCC6 | c.2203C>G (p.Arg735Gly) n.2281C>G c.2044C>G (p.Arg682Gly) c.*595C>G (n.*595C>G) c.313C>G (p.Arg105Gly) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49478437G>A | CA115152 | ERCC6 | c.2203C>T (p.Arg735Ter) n.2281C>T c.2044C>T (p.Arg682Ter) c.*595C>T (n.*595C>T) c.313C>T (p.Arg105Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |