| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570725G>T | CA379129988 | KCNQ1 | c.314G>T (p.Arg105Leu) c.478-12710G>T (n.478-12710G>T) c.575G>T (p.Arg192Leu) c.194G>T (p.Arg65Leu) c.124-12710G>T (n.124-12710G>T) | ClinVar dbSNP |
| 11 | g.2570725G>C | CA007599 | KCNQ1 | c.314G>C (p.Arg105Pro) c.478-12710G>C (n.478-12710G>C) c.575G>C (p.Arg192Pro) c.194G>C (p.Arg65Pro) c.124-12710G>C (n.124-12710G>C) | ClinVar dbSNP |
| 11 | g.2570725G>A | CA007593 | KCNQ1 | c.314G>A (p.Arg105His) c.478-12710G>A (n.478-12710G>A) c.575G>A (p.Arg192His) c.194G>A (p.Arg65His) c.124-12710G>A (n.124-12710G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |