| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2778003C>G | CA379139700 | KCNQ1 | c.1403C>G (p.Thr468Arg) c.1220C>G (p.Thr407Arg) c.1760C>G (p.Thr587Arg) c.1379C>G (p.Thr460Arg) c.164C>G (p.Thr55Arg) c.866C>G (p.Thr289Arg) n.267C>G | ClinVar dbSNP |
| 11 | g.2778003C>T | CA006328 | KCNQ1 | c.1403C>T (p.Thr468Met) c.1220C>T (p.Thr407Met) c.1760C>T (p.Thr587Met) c.1379C>T (p.Thr460Met) c.164C>T (p.Thr55Met) c.866C>T (p.Thr289Met) n.267C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.2778003C= | CA1948315103 | KCNQ1 | c.1403C= (p.Thr468=) c.1220C= (p.Thr407=) c.1760C= (p.Thr587=) c.1379C= (p.Thr460=) c.164C= (p.Thr55=) c.866C= (p.Thr289=) n.267C= | dbSNP |