| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572880G>T | CA008323 | KCNQ1 | c.554G>T (p.Gly185Val) c.478-10555G>T (n.478-10555G>T) c.815G>T (p.Gly272Val) c.434G>T (p.Gly145Val) c.124-10555G>T (n.124-10555G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572880G>A | CA008316 | KCNQ1 | c.554G>A (p.Gly185Asp) c.478-10555G>A (n.478-10555G>A) c.815G>A (p.Gly272Asp) c.434G>A (p.Gly145Asp) c.124-10555G>A (n.124-10555G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |