Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49482848G>A | CA274698 | ERCC6 | c.2008C>T (p.Arg670Trp) n.2086C>T c.1849C>T (p.Arg617Trp) c.*400C>T (n.*400C>T) c.118C>T (p.Arg40Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49482848G= | CA1908760559 | ERCC6 | c.2008C= (p.Arg670=) n.2086C= c.1849C= (p.Arg617=) c.*400C= (n.*400C=) c.118C= (p.Arg40=) | dbSNP |