| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71199371A>G | CA262038 | EYA1 | c.1748T>C (p.Leu583Pro) c.1646T>C (p.Leu549Pro) c.1643T>C (p.Leu548Pro) c.*1027T>C (n.*1027T>C) n.2211T>C c.*1425T>C (n.*1425T>C) c.1835T>C (p.Leu612Pro) c.1730T>C (p.Leu577Pro) n.818T>C c.1727T>C (p.Leu576Pro) c.1649T>C (p.Leu550Pro) c.1745T>C (p.Leu582Pro) n.2243T>C c.1382T>C (p.Leu461Pro) c.1821T>C (p.Pro607=) c.1836T>C (p.Pro612=) c.1733T>C (p.Leu578Pro) c.1749T>C (p.Pro583=) c.1746T>C (p.Pro582=) c.1686T>C (p.Pro562=) c.1650T>C (p.Pro550=) c.1398T>C (p.Pro466=) c.1820T>C (p.Leu607Pro) c.1832T>C (p.Leu611Pro) c.1817T>C (p.Leu606Pro) c.1685T>C (p.Leu562Pro) c.1397T>C (p.Leu466Pro) n.5008+26A>G | ClinVar dbSNP |
| 8 | g.71199371A= | CA1792671801 | EYA1 | c.1748T= (p.Leu583=) c.1646T= (p.Leu549=) c.1643T= (p.Leu548=) c.*1027T= (n.*1027T=) n.2211T= c.*1425T= (n.*1425T=) c.1835T= (p.Leu612=) c.1730T= (p.Leu577=) n.818T= c.1727T= (p.Leu576=) c.1649T= (p.Leu550=) c.1745T= (p.Leu582=) n.2243T= c.1382T= (p.Leu461=) c.1821T= (p.Pro607=) c.1836T= (p.Pro612=) c.1733T= (p.Leu578=) c.1749T= (p.Pro583=) c.1746T= (p.Pro582=) c.1686T= (p.Pro562=) c.1650T= (p.Pro550=) c.1398T= (p.Pro466=) c.1820T= (p.Leu607=) c.1832T= (p.Leu611=) c.1817T= (p.Leu606=) c.1685T= (p.Leu562=) c.1397T= (p.Leu466=) n.5008+26A= | dbSNP |