| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585264A>G | CA005223 | KCNQ1 | c.771+1719A>G (n.771+1719A>G) c.588+1719A>G (n.588+1719A>G) c.1085A>G (p.Lys362Arg) c.704A>G (p.Lys235Arg) c.234+1719A>G (n.234+1719A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2585264A= | CA1948229027 | KCNQ1 | c.771+1719A= (n.771+1719A=) c.588+1719A= (n.588+1719A=) c.1085A= (p.Lys362=) c.704A= (p.Lys235=) c.234+1719A= (n.234+1719A=) | dbSNP |