Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2571394C>G | CA379130699 | KCNQ1 | c.413C>G (p.Ser138Trp) c.478-12041C>G (n.478-12041C>G) c.674C>G (p.Ser225Trp) c.293C>G (p.Ser98Trp) c.124-12041C>G (n.124-12041C>G) | ClinVar dbSNP |
11 | g.2571394C>T | CA007870 | KCNQ1 | c.413C>T (p.Ser138Leu) c.478-12041C>T (n.478-12041C>T) c.674C>T (p.Ser225Leu) c.293C>T (p.Ser98Leu) c.124-12041C>T (n.124-12041C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |