| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71271828G>T | CA10576736 | EYA1 | c.896C>A (p.Ser299Ter) c.794C>A (p.Ser265Ter) c.881C>A (p.Ser294Ter) c.*175C>A (n.*175C>A) c.132C>A n.1359C>A c.*663C>A (n.*663C>A) c.983C>A (p.Ser328Ter) c.968C>A (p.Ser323Ter) c.965C>A (p.Ser322Ter) c.878C>A (p.Ser293Ter) c.797C>A (p.Ser266Ter) c.893C>A (p.Ser298Ter) c.-188C>A (n.-188C>A) n.1391C>A c.530C>A (p.Ser177Ter) c.833C>A (p.Ser278Ter) c.545C>A (p.Ser182Ter) c.980C>A (p.Ser327Ter) | ClinVar dbSNP |
| 8 | g.71271828G= | CA1792716248 | EYA1 | c.896C= (p.Ser299=) c.794C= (p.Ser265=) c.881C= (p.Ser294=) c.*175C= (n.*175C=) c.132C= n.1359C= c.*663C= (n.*663C=) c.983C= (p.Ser328=) c.968C= (p.Ser323=) c.965C= (p.Ser322=) c.878C= (p.Ser293=) c.797C= (p.Ser266=) c.893C= (p.Ser298=) c.-188C= (n.-188C=) n.1391C= c.530C= (p.Ser177=) c.833C= (p.Ser278=) c.545C= (p.Ser182=) c.980C= (p.Ser327=) | dbSNP |