| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583463A>C | CA379132985 | KCNQ1 | c.689A>C (p.Asp230Ala) c.506A>C (p.Asp169Ala) c.950A>C (p.Asp317Ala) c.569A>C (p.Asp190Ala) c.152A>C (p.Asp51Ala) | ClinVar dbSNP |
| 11 | g.2583463A>G | CA008884 | KCNQ1 | c.689A>G (p.Asp230Gly) c.506A>G (p.Asp169Gly) c.950A>G (p.Asp317Gly) c.569A>G (p.Asp190Gly) c.152A>G (p.Asp51Gly) | ClinVar dbSNP |