| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583475A>C | CA008930 | KCNQ1 | c.701A>C (p.Gln234Pro) c.518A>C (p.Gln173Pro) c.962A>C (p.Gln321Pro) c.581A>C (p.Gln194Pro) c.164A>C (p.Gln55Pro) | ClinVar dbSNP |
| 11 | g.2583475A>T | CA379133006 | KCNQ1 | c.701A>T (p.Gln234Leu) c.518A>T (p.Gln173Leu) c.962A>T (p.Gln321Leu) c.581A>T (p.Gln194Leu) c.164A>T (p.Gln55Leu) | dbSNP |