| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572882C>T | CA008331 | KCNQ1 | c.556C>T (p.Leu186Phe) c.478-10553C>T (n.478-10553C>T) c.817C>T (p.Leu273Phe) c.436C>T (p.Leu146Phe) c.124-10553C>T (n.124-10553C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572882C>G | CA379131380 | KCNQ1 | c.556C>G (p.Leu186Val) c.478-10553C>G (n.478-10553C>G) c.817C>G (p.Leu273Val) c.436C>G (p.Leu146Val) c.124-10553C>G (n.124-10553C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |