| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572891del | CA008398 | KCNQ1 | c.565del (p.Ser189ProfsTer13) c.478-10544del (n.478-10544del) c.826del (p.Ser276ProfsTer13) c.445del (p.Ser149ProfsTer13) c.124-10544del (n.124-10544del) c.565del (p.Ser189ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572891T= | CA3182867860 | KCNQ1 | c.565T= (p.Ser189=) c.478-10544T= (n.478-10544T=) c.826T= (p.Ser276=) c.445T= (p.Ser149=) c.124-10544T= (n.124-10544T=) | dbSNP |