| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572015G>T | CA379130903 | KCNQ1 | c.425G>T (p.Gly142Val) c.478-11420G>T (n.478-11420G>T) c.686G>T (p.Gly229Val) c.305G>T (p.Gly102Val) c.124-11420G>T (n.124-11420G>T) | ClinVar dbSNP |
| 11 | g.2572015G>A | CA007911 | KCNQ1 | c.425G>A (p.Gly142Asp) c.478-11420G>A (n.478-11420G>A) c.686G>A (p.Gly229Asp) c.305G>A (p.Gly102Asp) c.124-11420G>A (n.124-11420G>A) | ClinVar dbSNP gnomAD v4 |