| 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 |
| 8 | g.71215453T= | CA1792691554 | EYA1 | c.1531A= (p.Lys511=) c.1429A= (p.Lys477=) c.1426A= (p.Lys476=) c.*810A= (n.*810A=) n.1994A= c.*1208A= (n.*1208A=) c.1618A= (p.Lys540=) c.1513A= (p.Lys505=) n.601A= c.1510A= (p.Lys504=) c.1432A= (p.Lys478=) c.1528A= (p.Lys510=) n.2026A= c.1165A= (p.Lys389=) c.1603A= (p.Lys535=) c.1516A= (p.Lys506=) c.1468A= (p.Lys490=) c.1180A= (p.Lys394=) c.1615A= (p.Lys539=) c.1600A= (p.Lys534=) | dbSNP |
| 8 | g.71215453T>G | CA371466191 | EYA1 | c.1531A>C (p.Lys511Gln) c.1429A>C (p.Lys477Gln) c.1426A>C (p.Lys476Gln) c.*810A>C (n.*810A>C) n.1994A>C c.*1208A>C (n.*1208A>C) c.1618A>C (p.Lys540Gln) c.1513A>C (p.Lys505Gln) n.601A>C c.1510A>C (p.Lys504Gln) c.1432A>C (p.Lys478Gln) c.1528A>C (p.Lys510Gln) n.2026A>C c.1165A>C (p.Lys389Gln) c.1603A>C (p.Lys535Gln) c.1516A>C (p.Lys506Gln) c.1468A>C (p.Lys490Gln) c.1180A>C (p.Lys394Gln) c.1615A>C (p.Lys539Gln) c.1600A>C (p.Lys534Gln) | dbSNP gnomAD v4 |