| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.43553422G>C | CA406207288 | XRCC1 | c.580C>G (p.Arg194Gly) c.487C>G (p.Arg163Gly) c.469C>G (p.Arg157Gly) n.628C>G c.365C>G c.601C>G (p.Arg201Gly) n.260C>G c.506C>G | dbSNP |
| 19 | g.43553422G>A | CA9488737 | XRCC1 | c.580C>T (p.Arg194Trp) c.487C>T (p.Arg163Trp) c.469C>T (p.Arg157Trp) n.628C>T c.365C>T c.601C>T (p.Arg201Trp) n.260C>T c.506C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43553422G>T | CA507741451 | XRCC1 | c.580C>A (p.Arg194=) c.487C>A (p.Arg163=) c.469C>A (p.Arg157=) n.628C>A c.365C>A c.601C>A (p.Arg201=) n.260C>A c.506C>A | dbSNP |