| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570742A>G | CA007677 | KCNQ1 | c.331A>G (p.Ile111Val) c.478-12693A>G (n.478-12693A>G) c.592A>G (p.Ile198Val) c.211A>G (p.Ile71Val) c.124-12693A>G (n.124-12693A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570742A= | CA1948240096 | KCNQ1 | c.331A= (p.Ile111=) c.478-12693A= (n.478-12693A=) c.592A= (p.Ile198=) c.211A= (p.Ile71=) c.124-12693A= (n.124-12693A=) | dbSNP |