Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2570740C>T | CA007671 | KCNQ1 | c.329C>T (p.Pro110Leu) c.478-12695C>T (n.478-12695C>T) c.590C>T (p.Pro197Leu) c.209C>T (p.Pro70Leu) c.124-12695C>T (n.124-12695C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570740C>A | CA379130064 | KCNQ1 | c.329C>A (p.Pro110His) c.478-12695C>A (n.478-12695C>A) c.590C>A (p.Pro197His) c.209C>A (p.Pro70His) c.124-12695C>A (n.124-12695C>A) | ClinVar dbSNP |