| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2571333G>A | CA007777 | KCNQ1 | c.352G>A (p.Val118Met) c.478-12102G>A (n.478-12102G>A) c.613G>A (p.Val205Met) c.232G>A (p.Val78Met) c.124-12102G>A (n.124-12102G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2571333G= | CA1948241387 | KCNQ1 | c.352G= (p.Val118=) c.478-12102G= (n.478-12102G=) c.613G= (p.Val205=) c.232G= (p.Val78=) c.124-12102G= (n.124-12102G=) | dbSNP |