| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71211239C>A | CA16616910 | EYA1 | c.1615G>T (p.Glu539Ter) c.1513G>T (p.Glu505Ter) c.1510G>T (p.Glu504Ter) c.*894G>T (n.*894G>T) n.2078G>T c.*1292G>T (n.*1292G>T) c.1702G>T (p.Glu568Ter) c.1597G>T (p.Glu533Ter) n.685G>T c.1594G>T (p.Glu532Ter) c.1516G>T (p.Glu506Ter) c.1612G>T (p.Glu538Ter) n.2110G>T c.1249G>T (p.Glu417Ter) c.1687G>T (p.Glu563Ter) c.1600G>T (p.Glu534Ter) c.1552G>T (p.Glu518Ter) c.1264G>T (p.Glu422Ter) c.1699G>T (p.Glu567Ter) c.1684G>T (p.Glu562Ter) | ClinVar dbSNP |
| 8 | g.71211239C= | CA1792681678 | EYA1 | c.1615G= (p.Glu539=) c.1513G= (p.Glu505=) c.1510G= (p.Glu504=) c.*894G= (n.*894G=) n.2078G= c.*1292G= (n.*1292G=) c.1702G= (p.Glu568=) c.1597G= (p.Glu533=) n.685G= c.1594G= (p.Glu532=) c.1516G= (p.Glu506=) c.1612G= (p.Glu538=) n.2110G= c.1249G= (p.Glu417=) c.1687G= (p.Glu563=) c.1600G= (p.Glu534=) c.1552G= (p.Glu518=) c.1264G= (p.Glu422=) c.1699G= (p.Glu567=) c.1684G= (p.Glu562=) | dbSNP |