| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572053G>A | CA007986 | KCNQ1 | c.463G>A (p.Asp155Asn) c.478-11382G>A (n.478-11382G>A) c.724G>A (p.Asp242Asn) c.343G>A (p.Asp115Asn) c.124-11382G>A (n.124-11382G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572053G>T | CA007996 | KCNQ1 | c.463G>T (p.Asp155Tyr) c.478-11382G>T (n.478-11382G>T) c.724G>T (p.Asp242Tyr) c.343G>T (p.Asp115Tyr) c.124-11382G>T (n.124-11382G>T) | ClinVar dbSNP gnomAD v4 |