| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847803G>A | CA006476 | KCNQ1,KCNQ1-AS1 | c.1474G>A (p.Asp492Asn) c.1831G>A (p.Asp611Asn) c.1450G>A (p.Asp484Asn) c.235G>A (p.Asp79Asn) n.338G>A n.778-7361C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847803G>T | CA006483 | KCNQ1,KCNQ1-AS1 | c.1474G>T (p.Asp492Tyr) c.1831G>T (p.Asp611Tyr) c.1450G>T (p.Asp484Tyr) c.235G>T (p.Asp79Tyr) n.338G>T n.778-7361C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |