| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63407136del | CA315556 | KCNQ2 | c.2181del (p.Val728SerfsTer?) c.2127del (p.Val710SerfsTer?) c.1524del (p.Val509SerfsTer?) c.2034del (p.Val679SerfsTer?) c.1695del (p.Val566SerfsTer?) c.2043del (p.Val682SerfsTer?) c.2151del (p.Val718SerfsTer?) c.2115del (p.Val706SerfsTer?) c.2073del (p.Val692SerfsTer?) c.1680-6293del (n.1680-6293del) c.2169del (p.Val724SerfsTer?) c.2235del (p.Val746SerfsTer?) c.2232del (p.Val745SerfsTer?) c.2205del (p.Val736SerfsTer?) c.2124del (p.Val709SerfsTer?) c.2109del (p.Val704SerfsTer?) c.1716del (p.Val573SerfsTer?) c.2178del (p.Val727SerfsTer?) c.2112del (p.Val705SerfsTer?) c.2070del (p.Val691SerfsTer?) c.1143del (p.Val382SerfsTer?) | ClinVar dbSNP |
| 20 | g.63407136A= | CA2374774435 | KCNQ2 | c.2181T= (p.Pro727=) c.2127T= (p.Pro709=) c.1524T= (p.Pro508=) c.2034T= (p.Pro678=) c.1695T= (p.Pro565=) c.2043T= (p.Pro681=) c.2151T= (p.Pro717=) c.2115T= (p.Pro705=) c.2073T= (p.Pro691=) c.1680-6293T= (n.1680-6293T=) c.2169T= (p.Pro723=) c.2235T= (p.Pro745=) c.2232T= (p.Pro744=) c.2205T= (p.Pro735=) c.2124T= (p.Pro708=) c.2109T= (p.Pro703=) c.1716T= (p.Pro572=) c.2178T= (p.Pro726=) c.2112T= (p.Pro704=) c.2070T= (p.Pro690=) c.1143T= (p.Pro381=) | dbSNP dbSNP |