| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847771C>T | CA006439 | KCNQ1,KCNQ1-AS1 | c.1442C>T (p.Thr481Met) c.1799C>T (p.Thr600Met) c.1418C>T (p.Thr473Met) c.203C>T (p.Thr68Met) n.306C>T n.778-7329G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847771C= | CA1948349584 | KCNQ1,KCNQ1-AS1 | c.1442C= (p.Thr481=) c.1799C= (p.Thr600=) c.1418C= (p.Thr473=) c.203C= (p.Thr68=) n.306C= n.778-7329G= | dbSNP |