| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572986G>A | CA008670 | KCNQ1 | c.660G>A (p.Val220=) c.478-10449G>A (n.478-10449G>A) c.921G>A (p.Val307=) c.540G>A (p.Val180=) c.124-10449G>A (n.124-10449G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572986G= | CA1948212480 | KCNQ1 | c.660G= (p.Val220=) c.478-10449G= (n.478-10449G=) c.921G= (p.Val307=) c.540G= (p.Val180=) c.124-10449G= (n.124-10449G=) | dbSNP |