| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572062G>T | CA16613304 | KCNQ1 | c.472G>T (p.Gly158Ter) c.478-11373G>T (n.478-11373G>T) c.733G>T (p.Gly245Ter) c.352G>T (p.Gly118Ter) c.124-11373G>T (n.124-11373G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572062G>A | CA379130984 | KCNQ1 | c.472G>A (p.Gly158Arg) c.478-11373G>A (n.478-11373G>A) c.733G>A (p.Gly245Arg) c.352G>A (p.Gly118Arg) c.124-11373G>A (n.124-11373G>A) | ClinVar dbSNP gnomAD v4 |