| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2778009G>A | CA006347 | KCNQ1 | c.1409G>A (p.Gly470Asp) c.1226G>A (p.Gly409Asp) c.1766G>A (p.Gly589Asp) c.1385G>A (p.Gly462Asp) c.170G>A (p.Gly57Asp) c.872G>A (p.Gly291Asp) n.273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2778009G= | CA1948315109 | KCNQ1 | c.1409G= (p.Gly470=) c.1226G= (p.Gly409=) c.1766G= (p.Gly589=) c.1385G= (p.Gly462=) c.170G= (p.Gly57=) c.872G= (p.Gly291=) n.273G= | dbSNP |