| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572056C>A | CA008003 | KCNQ1 | c.466C>A (p.Arg156Ser) c.478-11379C>A (n.478-11379C>A) c.727C>A (p.Arg243Ser) c.346C>A (p.Arg116Ser) c.124-11379C>A (n.124-11379C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572056C>T | CA008011 | KCNQ1 | c.466C>T (p.Arg156Cys) c.478-11379C>T (n.478-11379C>T) c.727C>T (p.Arg243Cys) c.346C>T (p.Arg116Cys) c.124-11379C>T (n.124-11379C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |