| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587619A>T | CA005470 | KCNQ1 | c.821A>T (p.Lys274Met) c.638A>T (p.Lys213Met) c.1178A>T (p.Lys393Met) c.797A>T (p.Lys266Met) c.284A>T (p.Lys95Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2587619A= | CA1948233268 | KCNQ1 | c.821A= (p.Lys274=) c.638A= (p.Lys213=) c.1178A= (p.Lys393=) c.797A= (p.Lys266=) c.284A= (p.Lys95=) | dbSNP |
| 11 | g.2587619A>G | CA379134737 | KCNQ1 | c.821A>G (p.Lys274Arg) c.638A>G (p.Lys213Arg) c.1178A>G (p.Lys393Arg) c.797A>G (p.Lys266Arg) c.284A>G (p.Lys95Arg) | dbSNP gnomAD v4 |