| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445479C>T | CA035286 | KCNQ1 | c.120C>T (p.Phe40=) c.381C>T (p.Phe127=) c.27C>T (p.Phe9=) n.158C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2445479C>A | CA006925 | KCNQ1 | c.120C>A (p.Phe40Leu) c.381C>A (p.Phe127Leu) c.27C>A (p.Phe9Leu) n.158C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445479C= | CA1948161049 | KCNQ1 | c.120C= (p.Phe40=) c.381C= (p.Phe127=) c.27C= (p.Phe9=) n.158C= | dbSNP |