| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.151842613C>G | CA366214061 | ESR1 | c.469C>G (p.Arg157Gly) c.452+34249C>G (n.452+34249C>G) c.-51C>G (n.-51C>G) c.-15+34249C>G (n.-15+34249C>G) n.839C>G | dbSNP |
| 6 | g.151842613C>T | CA126695 | ESR1 | c.469C>T (p.Arg157Ter) c.452+34249C>T (n.452+34249C>T) c.-51C>T (n.-51C>T) c.-15+34249C>T (n.-15+34249C>T) n.839C>T | ClinVar dbSNP gnomAD v4 COSMIC |