| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63408536T>A | CA342475 | KCNQ2 | c.1818A>T (p.Arg606Ser) c.1764A>T (p.Arg588Ser) c.90A>T c.1161A>T (p.Arg387Ser) c.1671A>T (p.Arg557Ser) c.1332A>T (p.Arg444Ser) c.1680A>T (p.Arg560Ser) c.1788A>T (p.Arg596Ser) c.1752A>T (p.Arg584Ser) c.1710A>T (p.Arg570Ser) c.1679+4914A>T (n.1679+4914A>T) c.1806A>T (p.Gly602=) c.1872A>T (p.Arg624Ser) c.1869A>T (p.Arg623Ser) c.1842A>T (p.Arg614Ser) c.1761A>T (p.Arg587Ser) c.1746A>T (p.Arg582Ser) c.1353A>T (p.Arg451Ser) c.1815A>T (p.Arg605Ser) c.1752A>T (p.Gly584=) c.1749A>T (p.Arg583Ser) c.1707A>T (p.Arg569Ser) c.780A>T (p.Arg260Ser) | ClinVar dbSNP |
| 20 | g.63408536T= | CA2374775243 | KCNQ2 | c.1818A= (p.Arg606=) c.1764A= (p.Arg588=) c.90A= c.1161A= (p.Arg387=) c.1671A= (p.Arg557=) c.1332A= (p.Arg444=) c.1680A= (p.Arg560=) c.1788A= (p.Arg596=) c.1752A= (p.Arg584=) c.1710A= (p.Arg570=) c.1679+4914A= (n.1679+4914A=) c.1806A= (p.Gly602=) c.1872A= (p.Arg624=) c.1869A= (p.Arg623=) c.1842A= (p.Arg614=) c.1761A= (p.Arg587=) c.1746A= (p.Arg582=) c.1353A= (p.Arg451=) c.1815A= (p.Arg605=) c.1752A= (p.Gly584=) c.1749A= (p.Arg583=) c.1707A= (p.Arg569=) c.780A= (p.Arg260=) | dbSNP |