| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49470671T>C | CA090900 | ERCC6 | c.3289A>G (p.Met1097Val) n.360A>G n.435A>G n.338A>G n.4692A>G c.3130A>G (p.Met1044Val) c.*1585A>G (n.*1585A>G) c.1399A>G (p.Met467Val) c.1121A>G n.243-894T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49470671T= | CA1908749509 | ERCC6 | c.3289A= (p.Met1097=) n.360A= n.435A= n.338A= n.4692A= c.3130A= (p.Met1044=) c.*1585A= (n.*1585A=) c.1399A= (p.Met467=) c.1121A= n.243-894T= | dbSNP |