| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570717dup | CA007508 | KCNQ1 | c.306dup (p.Arg103AlafsTer?) c.478-12718dup (n.478-12718dup) c.567dup (p.Arg190AlafsTer?) c.186dup (p.Arg63AlafsTer?) c.124-12718dup (n.124-12718dup) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570716_2570717del | CA915947934 | KCNQ1 | c.305_306del (p.Gly102AlafsTer?) c.478-12719_478-12718del (n.478-12719_478-12718del) c.566_567del (p.Gly189AlafsTer?) c.185_186del (p.Gly62AlafsTer?) c.124-12719_124-12718del (n.124-12719_124-12718del) | ClinVar dbSNP |