| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63407353A>C | CA342478 | KCNQ2 | c.1964T>G (p.Leu655Arg) c.1910T>G (p.Leu637Arg) c.1307T>G (p.Leu436Arg) n.67T>G c.1817T>G (p.Leu606Arg) c.1478T>G (p.Leu493Arg) c.1826T>G (p.Leu609Arg) c.1934T>G (p.Leu645Arg) c.1898T>G (p.Leu633Arg) c.1856T>G (p.Leu619Arg) c.1679+6097T>G (n.1679+6097T>G) c.1952T>G (p.Leu651Arg) c.2018T>G (p.Leu673Arg) c.2015T>G (p.Leu672Arg) c.1988T>G (p.Leu663Arg) c.1907T>G (p.Leu636Arg) c.1892T>G (p.Leu631Arg) c.1499T>G (p.Leu500Arg) c.1961T>G (p.Leu654Arg) c.1895T>G (p.Leu632Arg) c.1853T>G (p.Leu618Arg) c.926T>G (p.Leu309Arg) | ClinVar dbSNP |
| 20 | g.63407353A= | CA2374774563 | KCNQ2 | c.1964T= (p.Leu655=) c.1910T= (p.Leu637=) c.1307T= (p.Leu436=) n.67T= c.1817T= (p.Leu606=) c.1478T= (p.Leu493=) c.1826T= (p.Leu609=) c.1934T= (p.Leu645=) c.1898T= (p.Leu633=) c.1856T= (p.Leu619=) c.1679+6097T= (n.1679+6097T=) c.1952T= (p.Leu651=) c.2018T= (p.Leu673=) c.2015T= (p.Leu672=) c.1988T= (p.Leu663=) c.1907T= (p.Leu636=) c.1892T= (p.Leu631=) c.1499T= (p.Leu500=) c.1961T= (p.Leu654=) c.1895T= (p.Leu632=) c.1853T= (p.Leu618=) c.926T= (p.Leu309=) | dbSNP |