| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63407307del | CA342483 | KCNQ2 | c.2010del (p.Thr671GlnfsTer?) c.1956del (p.Thr653GlnfsTer?) c.1353del (p.Thr452GlnfsTer?) c.1863del (p.Thr622GlnfsTer?) c.1524del (p.Thr509GlnfsTer?) c.1872del (p.Thr625GlnfsTer?) c.1980del (p.Thr661GlnfsTer?) c.1944del (p.Thr649GlnfsTer?) c.1902del (p.Thr635GlnfsTer?) c.1679+6143del (n.1679+6143del) c.1998del (p.Thr667GlnfsTer?) c.2064del (p.Thr689GlnfsTer?) c.2061del (p.Thr688GlnfsTer?) c.2034del (p.Thr679GlnfsTer?) c.1953del (p.Thr652GlnfsTer?) c.1938del (p.Thr647GlnfsTer?) c.1545del (p.Thr516GlnfsTer?) c.2007del (p.Thr670GlnfsTer?) c.1941del (p.Thr648GlnfsTer?) c.1899del (p.Thr634GlnfsTer?) c.972del (p.Thr325GlnfsTer?) | ClinVar dbSNP |
| 20 | g.63407307C= | CA2374774540 | KCNQ2 | c.2010G= (p.Pro670=) c.1956G= (p.Pro652=) c.1353G= (p.Pro451=) c.1863G= (p.Pro621=) c.1524G= (p.Pro508=) c.1872G= (p.Pro624=) c.1980G= (p.Pro660=) c.1944G= (p.Pro648=) c.1902G= (p.Pro634=) c.1679+6143G= (n.1679+6143G=) c.1998G= (p.Pro666=) c.2064G= (p.Pro688=) c.2061G= (p.Pro687=) c.2034G= (p.Pro678=) c.1953G= (p.Pro651=) c.1938G= (p.Pro646=) c.1545G= (p.Pro515=) c.2007G= (p.Pro669=) c.1941G= (p.Pro647=) c.1899G= (p.Pro633=) c.972G= (p.Pro324=) | dbSNP dbSNP dbSNP |