| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585300T>A | CA005326 | KCNQ1 | c.771+1755T>A (n.771+1755T>A) c.588+1755T>A (n.588+1755T>A) c.1121T>A (p.Leu374His) c.740T>A (p.Leu247His) c.234+1755T>A (n.234+1755T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2585300T= | CA1948229226 | KCNQ1 | c.771+1755T= (n.771+1755T=) c.588+1755T= (n.588+1755T=) c.1121T= (p.Leu374=) c.740T= (p.Leu247=) c.234+1755T= (n.234+1755T=) | dbSNP |