| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71215453T>A | CA16605260 | EYA1 | c.1531A>T (p.Lys511Ter) c.1429A>T (p.Lys477Ter) c.1426A>T (p.Lys476Ter) c.*810A>T (n.*810A>T) n.1994A>T c.*1208A>T (n.*1208A>T) c.1618A>T (p.Lys540Ter) c.1513A>T (p.Lys505Ter) n.601A>T c.1510A>T (p.Lys504Ter) c.1432A>T (p.Lys478Ter) c.1528A>T (p.Lys510Ter) n.2026A>T c.1165A>T (p.Lys389Ter) c.1603A>T (p.Lys535Ter) c.1516A>T (p.Lys506Ter) c.1468A>T (p.Lys490Ter) c.1180A>T (p.Lys394Ter) c.1615A>T (p.Lys539Ter) c.1600A>T (p.Lys534Ter) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.71215453T>C | CA371466190 | EYA1 | c.1531A>G (p.Lys511Glu) c.1429A>G (p.Lys477Glu) c.1426A>G (p.Lys476Glu) c.*810A>G (n.*810A>G) n.1994A>G c.*1208A>G (n.*1208A>G) c.1618A>G (p.Lys540Glu) c.1513A>G (p.Lys505Glu) n.601A>G c.1510A>G (p.Lys504Glu) c.1432A>G (p.Lys478Glu) c.1528A>G (p.Lys510Glu) n.2026A>G c.1165A>G (p.Lys389Glu) c.1603A>G (p.Lys535Glu) c.1516A>G (p.Lys506Glu) c.1468A>G (p.Lys490Glu) c.1180A>G (p.Lys394Glu) c.1615A>G (p.Lys539Glu) c.1600A>G (p.Lys534Glu) | dbSNP gnomAD v3 gnomAD v4 |