| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572870G>C | CA008284 | KCNQ1 | c.544G>C (p.Gly182Arg) c.478-10565G>C (n.478-10565G>C) c.805G>C (p.Gly269Arg) c.424G>C (p.Gly142Arg) c.124-10565G>C (n.124-10565G>C) | ClinVar dbSNP |
| 11 | g.2572870G>A | CA008278 | KCNQ1 | c.544G>A (p.Gly182Ser) c.478-10565G>A (n.478-10565G>A) c.805G>A (p.Gly269Ser) c.424G>A (p.Gly142Ser) c.124-10565G>A (n.124-10565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |