| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847875G>A | CA006589 | KCNQ1,KCNQ1-AS1 | c.1546G>A (p.Gly516Arg) c.1903G>A (p.Gly635Arg) c.1522G>A (p.Gly508Arg) c.307G>A (p.Gly103Arg) n.410G>A n.778-7433C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2847875G= | CA1948349654 | KCNQ1,KCNQ1-AS1 | c.1546G= (p.Gly516=) c.1903G= (p.Gly635=) c.1522G= (p.Gly508=) c.307G= (p.Gly103=) n.410G= n.778-7433C= | dbSNP |