| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45368655C>T | CA126883 | ERCC2 | c.335G>A (p.Arg112His) n.364G>A c.212G>A (p.Arg71His) c.263G>A (p.Arg88His) n.432G>A n.327G>A n.330G>A c.185G>A (p.Arg62His) c.257G>A (p.Arg86His) n.382G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45368655C= | CA2338398074 | ERCC2 | c.335G= (p.Arg112=) n.364G= c.212G= (p.Arg71=) c.263G= (p.Arg88=) n.432G= n.327G= n.330G= c.185G= (p.Arg62=) c.257G= (p.Arg86=) n.382G= | dbSNP |