| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71215405A>T | CA262034 | EYA1 | c.1579T>A (p.Tyr527Asn) c.1477T>A (p.Tyr493Asn) c.1474T>A (p.Tyr492Asn) c.*858T>A (n.*858T>A) n.2042T>A c.*1256T>A (n.*1256T>A) c.1666T>A (p.Tyr556Asn) c.1561T>A (p.Tyr521Asn) n.649T>A c.1558T>A (p.Tyr520Asn) c.1480T>A (p.Tyr494Asn) c.1576T>A (p.Tyr526Asn) n.2074T>A c.1213T>A (p.Tyr405Asn) c.1651T>A (p.Tyr551Asn) c.1564T>A (p.Tyr522Asn) c.1516T>A (p.Tyr506Asn) c.1228T>A (p.Tyr410Asn) c.1663T>A (p.Tyr555Asn) c.1648T>A (p.Tyr550Asn) | ClinVar dbSNP |
| 8 | g.71215405A>G | CA371466088 | EYA1 | c.1579T>C (p.Tyr527His) c.1477T>C (p.Tyr493His) c.1474T>C (p.Tyr492His) c.*858T>C (n.*858T>C) n.2042T>C c.*1256T>C (n.*1256T>C) c.1666T>C (p.Tyr556His) c.1561T>C (p.Tyr521His) n.649T>C c.1558T>C (p.Tyr520His) c.1480T>C (p.Tyr494His) c.1576T>C (p.Tyr526His) n.2074T>C c.1213T>C (p.Tyr405His) c.1651T>C (p.Tyr551His) c.1564T>C (p.Tyr522His) c.1516T>C (p.Tyr506His) c.1228T>C (p.Tyr410His) c.1663T>C (p.Tyr555His) c.1648T>C (p.Tyr550His) | dbSNP gnomAD v4 |
| 8 | g.71215405A= | CA1792691481 | EYA1 | c.1579T= (p.Tyr527=) c.1477T= (p.Tyr493=) c.1474T= (p.Tyr492=) c.*858T= (n.*858T=) n.2042T= c.*1256T= (n.*1256T=) c.1666T= (p.Tyr556=) c.1561T= (p.Tyr521=) n.649T= c.1558T= (p.Tyr520=) c.1480T= (p.Tyr494=) c.1576T= (p.Tyr526=) n.2074T= c.1213T= (p.Tyr405=) c.1651T= (p.Tyr551=) c.1564T= (p.Tyr522=) c.1516T= (p.Tyr506=) c.1228T= (p.Tyr410=) c.1663T= (p.Tyr555=) c.1648T= (p.Tyr550=) | dbSNP |