| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152011697G>A | CA366212720 | ESR1 | c.1138G>A (p.Glu380Lys) c.42+67448G>A (n.42+67448G>A) n.466G>A c.453-49294G>A (n.453-49294G>A) c.157G>A (p.Glu53Lys) c.619G>A (p.Glu207Lys) c.*111-49294G>A (n.*111-49294G>A) c.1144G>A (p.Glu382Lys) c.1135G>A (p.Glu379Lys) c.409G>A (p.Glu137Lys) c.481G>A (p.Glu161Lys) c.349G>A (p.Glu117Lys) n.1467-49294G>A | dbSNP |
| 6 | g.152011697G>C | CA16602661 | ESR1 | c.1138G>C (p.Glu380Gln) c.42+67448G>C (n.42+67448G>C) n.466G>C c.453-49294G>C (n.453-49294G>C) c.157G>C (p.Glu53Gln) c.619G>C (p.Glu207Gln) c.*111-49294G>C (n.*111-49294G>C) c.1144G>C (p.Glu382Gln) c.1135G>C (p.Glu379Gln) c.409G>C (p.Glu137Gln) c.481G>C (p.Glu161Gln) c.349G>C (p.Glu117Gln) n.1467-49294G>C | ClinVar dbSNP COSMIC COSMIC |