| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847777T>C | CA006458 | KCNQ1,KCNQ1-AS1 | c.1448T>C (p.Leu483Pro) c.1805T>C (p.Leu602Pro) c.1424T>C (p.Leu475Pro) c.209T>C (p.Leu70Pro) n.312T>C n.778-7335A>G | ClinVar dbSNP |
| 11 | g.2847777T= | CA1948349588 | KCNQ1,KCNQ1-AS1 | c.1448T= (p.Leu483=) c.1805T= (p.Leu602=) c.1424T= (p.Leu475=) c.209T= (p.Leu70=) n.312T= n.778-7335A= | dbSNP |