Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2585294C>A | CA005309 | KCNQ1 | c.771+1749C>A (n.771+1749C>A) c.588+1749C>A (n.588+1749C>A) c.1115C>A (p.Ala372Asp) c.734C>A (p.Ala245Asp) c.234+1749C>A (n.234+1749C>A) | ClinVar dbSNP |
11 | g.2585294C>T | CA379133936 | KCNQ1 | c.771+1749C>T (n.771+1749C>T) c.588+1749C>T (n.588+1749C>T) c.1115C>T (p.Ala372Val) c.734C>T (p.Ala245Val) c.234+1749C>T (n.234+1749C>T) | dbSNP gnomAD v3 gnomAD v4 |