Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.43552260C>T | CA9488647 | XRCC1 | c.839G>A (p.Arg280His) c.746G>A (p.Arg249His) n.960G>A c.449G>A c.860G>A (p.Arg287His) n.519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.43552260C>G | CA9488648 | XRCC1 | c.839G>C (p.Arg280Pro) c.746G>C (p.Arg249Pro) n.960G>C c.449G>C c.860G>C (p.Arg287Pro) n.519G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.43552260C>A | CA406205490 | XRCC1 | c.839G>T (p.Arg280Leu) c.746G>T (p.Arg249Leu) n.960G>T c.449G>T c.860G>T (p.Arg287Leu) n.519G>T | dbSNP |