| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847866dup | CA006566 | KCNQ1,KCNQ1-AS1 | c.1537dup (p.Arg513LysfsTer20) c.1894dup (p.Arg632LysfsTer20) c.1513dup (p.Arg505LysfsTer20) c.298dup (p.Arg100LysfsTer20) n.401dup n.778-7424dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2847866A= | CA2580983519 | KCNQ1,KCNQ1-AS1 | c.1537A= (p.Arg513=) c.1894A= (p.Arg632=) c.1513A= (p.Arg505=) c.298A= (p.Arg100=) n.401A= n.778-7424T= | dbSNP |