Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2572871G>ACA008292KCNQ1c.545G>A (p.Gly182Asp)
c.478-10564G>A (n.478-10564G>A)
c.806G>A (p.Gly269Asp)
c.425G>A (p.Gly142Asp)
c.124-10564G>A (n.124-10564G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572871G>TCA008303KCNQ1c.545G>T (p.Gly182Val)
c.478-10564G>T (n.478-10564G>T)
c.806G>T (p.Gly269Val)
c.425G>T (p.Gly142Val)
c.124-10564G>T (n.124-10564G>T)
ClinVar dbSNP
11g.2572871G=CA1948243181KCNQ1c.545G= (p.Gly182=)
c.478-10564G= (n.478-10564G=)
c.806G= (p.Gly269=)
c.425G= (p.Gly142=)
c.124-10564G= (n.124-10564G=)
dbSNP

Number of alleles fetched