| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570710T>G | CA379129943 | KCNQ1 | c.299T>G (p.Leu100Arg) c.478-12725T>G (n.478-12725T>G) c.560T>G (p.Leu187Arg) c.179T>G (p.Leu60Arg) c.124-12725T>G (n.124-12725T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570710T>C | CA007460 | KCNQ1 | c.299T>C (p.Leu100Pro) c.478-12725T>C (n.478-12725T>C) c.560T>C (p.Leu187Pro) c.179T>C (p.Leu60Pro) c.124-12725T>C (n.124-12725T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |