| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572101C>A | CA008150 | KCNQ1 | c.511C>A (p.His171Asn) c.478-11334C>A (n.478-11334C>A) c.772C>A (p.His258Asn) c.391C>A (p.His131Asn) c.124-11334C>A (n.124-11334C>A) | ClinVar dbSNP |
| 11 | g.2572101C>T | CA040314 | KCNQ1 | c.511C>T (p.His171Tyr) c.478-11334C>T (n.478-11334C>T) c.772C>T (p.His258Tyr) c.391C>T (p.His131Tyr) c.124-11334C>T (n.124-11334C>T) | dbSNP ExAC gnomAD v2 |