| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583445C>T | CA008752 | KCNQ1 | c.671C>T (p.Thr224Ile) c.488C>T (p.Thr163Ile) c.932C>T (p.Thr311Ile) c.551C>T (p.Thr184Ile) c.134C>T (p.Thr45Ile) | ClinVar dbSNP gnomAD v2 |
| 11 | g.2583445C= | CA1948224634 | KCNQ1 | c.671C= (p.Thr224=) c.488C= (p.Thr163=) c.932C= (p.Thr311=) c.551C= (p.Thr184=) c.134C= (p.Thr45=) | dbSNP |
| 11 | g.2583445C>A | CA379132964 | KCNQ1 | c.671C>A (p.Thr224Asn) c.488C>A (p.Thr163Asn) c.932C>A (p.Thr311Asn) c.551C>A (p.Thr184Asn) c.134C>A (p.Thr45Asn) | dbSNP gnomAD v4 |