| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150951717del | CA004990 | KCNH2 | n.974del n.2509del c.1676del (p.Leu559ProfsTer6) c.656del (p.Leu219ProfsTer6) c.1328del (p.Leu443ProfsTer6) n.963del n.981del n.1899del c.1376del (p.Leu459ProfsTer6) c.1526del (p.Leu509ProfsTer6) c.1499del (p.Leu500ProfsTer6) | ClinVar dbSNP |
| 7 | g.150951717A= | CA1752410491 | KCNH2 | n.974T= n.2509T= c.1676T= (p.Leu559=) c.656T= (p.Leu219=) c.1328T= (p.Leu443=) n.963T= n.981T= n.1899T= c.1376T= (p.Leu459=) c.1526T= (p.Leu509=) c.1499T= (p.Leu500=) | dbSNP dbSNP |