| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572908C>A | CA16606921 | KCNQ1 | c.582C>A (p.Tyr194Ter) c.478-10527C>A (n.478-10527C>A) c.843C>A (p.Tyr281Ter) c.462C>A (p.Tyr154Ter) c.124-10527C>A (n.124-10527C>A) | ClinVar dbSNP |
| 11 | g.2572908C= | CA1948243208 | KCNQ1 | c.582C= (p.Tyr194=) c.478-10527C= (n.478-10527C=) c.843C= (p.Tyr281=) c.462C= (p.Tyr154=) c.124-10527C= (n.124-10527C=) | dbSNP |
| 11 | g.2572908C>T | CA472038165 | KCNQ1 | c.582C>T (p.Tyr194=) c.478-10527C>T (n.478-10527C>T) c.843C>T (p.Tyr281=) c.462C>T (p.Tyr154=) c.124-10527C>T (n.124-10527C>T) | ClinVar dbSNP gnomAD v4 |