| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2588816G>A | CA005679 | KCNQ1 | c.998G>A (p.Arg333Gln) c.815G>A (p.Arg272Gln) c.1355G>A (p.Arg452Gln) c.974G>A (p.Arg325Gln) c.461G>A (p.Arg154Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2588816G>T | CA005686 | KCNQ1 | c.998G>T (p.Arg333Leu) c.815G>T (p.Arg272Leu) c.1355G>T (p.Arg452Leu) c.974G>T (p.Arg325Leu) c.461G>T (p.Arg154Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |