| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152098779T>C | CA366085681 | ESR1 | c.1601T>C (p.Val534Ala) n.929T>C c.818T>C (p.Val273Ala) c.851-26487T>C (n.851-26487T>C) c.*476T>C (n.*476T>C) c.1607T>C (p.Val536Ala) c.1598T>C (p.Val533Ala) c.*16T>C (n.*16T>C) c.1082T>C (p.Val361Ala) c.872T>C (p.Val291Ala) c.944T>C (p.Val315Ala) c.812T>C (p.Val271Ala) n.1648T>C | dbSNP gnomAD v4 |
| 6 | g.152098779T>A | CA16602415 | ESR1 | c.1601T>A (p.Val534Glu) n.929T>A c.818T>A (p.Val273Glu) c.851-26487T>A (n.851-26487T>A) c.*476T>A (n.*476T>A) c.1607T>A (p.Val536Glu) c.1598T>A (p.Val533Glu) c.*16T>A (n.*16T>A) c.1082T>A (p.Val361Glu) c.872T>A (p.Val291Glu) c.944T>A (p.Val315Glu) c.812T>A (p.Val271Glu) n.1648T>A | ClinVar dbSNP COSMIC |
| 6 | g.152098779T>G | CA366085682 | ESR1 | c.1601T>G (p.Val534Gly) n.929T>G c.818T>G (p.Val273Gly) c.851-26487T>G (n.851-26487T>G) c.*476T>G (n.*476T>G) c.1607T>G (p.Val536Gly) c.1598T>G (p.Val533Gly) c.*16T>G (n.*16T>G) c.1082T>G (p.Val361Gly) c.872T>G (p.Val291Gly) c.944T>G (p.Val315Gly) c.812T>G (p.Val271Gly) n.1648T>G | dbSNP |