| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585213G>A | CA005061 | KCNQ1 | c.771+1668G>A (n.771+1668G>A) c.588+1668G>A (n.588+1668G>A) c.1034G>A (p.Gly345Glu) c.653G>A (p.Gly218Glu) c.234+1668G>A (n.234+1668G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2585213G= | CA1948228780 | KCNQ1 | c.771+1668G= (n.771+1668G=) c.588+1668G= (n.588+1668G=) c.1034G= (p.Gly345=) c.653G= (p.Gly218=) c.234+1668G= (n.234+1668G=) | dbSNP |