| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570745T>G | CA007685 | KCNQ1 | c.334T>G (p.Ser112Ala) c.478-12690T>G (n.478-12690T>G) c.595T>G (p.Ser199Ala) c.214T>G (p.Ser72Ala) c.124-12690T>G (n.124-12690T>G) | ClinVar dbSNP |
| 11 | g.2570745T= | CA1948240115 | KCNQ1 | c.334T= (p.Ser112=) c.478-12690T= (n.478-12690T=) c.595T= (p.Ser199=) c.214T= (p.Ser72=) c.124-12690T= (n.124-12690T=) | dbSNP |