| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63407333del | CA342481 | KCNQ2 | c.1984del (p.Tyr662ThrfsTer?) c.1930del (p.Tyr644ThrfsTer?) c.1327del (p.Tyr443ThrfsTer?) n.87del c.1837del (p.Tyr613ThrfsTer?) c.1498del (p.Tyr500ThrfsTer?) c.1846del (p.Tyr616ThrfsTer?) c.1954del (p.Tyr652ThrfsTer?) c.1918del (p.Tyr640ThrfsTer?) c.1876del (p.Tyr626ThrfsTer?) c.1679+6117del (n.1679+6117del) c.1972del (p.Tyr658ThrfsTer?) c.2038del (p.Tyr680ThrfsTer?) c.2035del (p.Tyr679ThrfsTer?) c.2008del (p.Tyr670ThrfsTer?) c.1927del (p.Tyr643ThrfsTer?) c.1912del (p.Tyr638ThrfsTer?) c.1519del (p.Tyr507ThrfsTer?) c.1981del (p.Tyr661ThrfsTer?) c.1915del (p.Tyr639ThrfsTer?) c.1873del (p.Tyr625ThrfsTer?) c.946del (p.Tyr316ThrfsTer?) | ClinVar dbSNP |
| 20 | g.63407333A= | CA3237914263 | KCNQ2 | c.1984T= (p.Tyr662=) c.1930T= (p.Tyr644=) c.1327T= (p.Tyr443=) n.87T= c.1837T= (p.Tyr613=) c.1498T= (p.Tyr500=) c.1846T= (p.Tyr616=) c.1954T= (p.Tyr652=) c.1918T= (p.Tyr640=) c.1876T= (p.Tyr626=) c.1679+6117T= (n.1679+6117T=) c.1972T= (p.Tyr658=) c.2038T= (p.Tyr680=) c.2035T= (p.Tyr679=) c.2008T= (p.Tyr670=) c.1927T= (p.Tyr643=) c.1912T= (p.Tyr638=) c.1519T= (p.Tyr507=) c.1981T= (p.Tyr661=) c.1915T= (p.Tyr639=) c.1873T= (p.Tyr625=) c.946T= (p.Tyr316=) | dbSNP dbSNP |