Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2585294C>ACA005309KCNQ1c.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
11g.2585294C>TCA379133936KCNQ1c.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

Number of alleles fetched