| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572020C>A | CA10603201 | KCNQ1 | c.430C>A (p.Arg144Ser) c.478-11415C>A (n.478-11415C>A) c.691C>A (p.Arg231Ser) c.310C>A (p.Arg104Ser) c.124-11415C>A (n.124-11415C>A) | ClinVar dbSNP |
| 11 | g.2572020C>T | CA007919 | KCNQ1 | c.430C>T (p.Arg144Cys) c.478-11415C>T (n.478-11415C>T) c.691C>T (p.Arg231Cys) c.310C>T (p.Arg104Cys) c.124-11415C>T (n.124-11415C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |