Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2583427C>ACA2612002538KCNQ1c.661-8C>A (n.661-8C>A)
c.478-8C>A (n.478-8C>A)
c.922-8C>A (n.922-8C>A)
c.541-8C>A (n.541-8C>A)
c.124-8C>A (n.124-8C>A)
 gnomAD v4
11g.2583427C>TCA2612002539KCNQ1c.661-8C>T (n.661-8C>T)
c.478-8C>T (n.478-8C>T)
c.922-8C>T (n.922-8C>T)
c.541-8C>T (n.541-8C>T)
c.124-8C>T (n.124-8C>T)
 gnomAD v4
11g.2583428C>ACA2612002541KCNQ1c.661-7C>A (n.661-7C>A)
c.478-7C>A (n.478-7C>A)
c.922-7C>A (n.922-7C>A)
c.541-7C>A (n.541-7C>A)
c.124-7C>A (n.124-7C>A)
 gnomAD v4
11g.2583428C>GCA2574728169KCNQ1c.661-7C>G (n.661-7C>G)
c.478-7C>G (n.478-7C>G)
c.922-7C>G (n.922-7C>G)
c.541-7C>G (n.541-7C>G)
c.124-7C>G (n.124-7C>G)
11g.2583428C>TCA2739276105KCNQ1c.661-7C>T (n.661-7C>T)
c.478-7C>T (n.478-7C>T)
c.922-7C>T (n.922-7C>T)
c.541-7C>T (n.541-7C>T)
c.124-7C>T (n.124-7C>T)
 ClinVar
11g.2583429C>ACA2574728170KCNQ1c.661-6C>A (n.661-6C>A)
c.478-6C>A (n.478-6C>A)
c.922-6C>A (n.922-6C>A)
c.541-6C>A (n.541-6C>A)
c.124-6C>A (n.124-6C>A)
 gnomAD v4
11g.2583429C=CA1948224514KCNQ1c.661-6C= (n.661-6C=)
c.478-6C= (n.478-6C=)
c.922-6C= (n.922-6C=)
c.541-6C= (n.541-6C=)
c.124-6C= (n.124-6C=)
11g.2583429C>GCA1948224515KCNQ1c.661-6C>G (n.661-6C>G)
c.478-6C>G (n.478-6C>G)
c.922-6C>G (n.922-6C>G)
c.541-6C>G (n.541-6C>G)
c.124-6C>G (n.124-6C>G)
 dbSNP
11g.2583430T>CCA1948224517KCNQ1c.661-5T>C (n.661-5T>C)
c.478-5T>C (n.478-5T>C)
c.922-5T>C (n.922-5T>C)
c.541-5T>C (n.541-5T>C)
c.124-5T>C (n.124-5T>C)
 dbSNP gnomAD v4
11g.2583430T=CA1948224516KCNQ1c.661-5T= (n.661-5T=)
c.478-5T= (n.478-5T=)
c.922-5T= (n.922-5T=)
c.541-5T= (n.541-5T=)
c.124-5T= (n.124-5T=)
11g.2583431G>ACA041624KCNQ1c.661-4G>A (n.661-4G>A)
c.478-4G>A (n.478-4G>A)
c.922-4G>A (n.922-4G>A)
c.541-4G>A (n.541-4G>A)
c.124-4G>A (n.124-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583431G=CA1948224520KCNQ1c.661-4G= (n.661-4G=)
c.478-4G= (n.478-4G=)
c.922-4G= (n.922-4G=)
c.541-4G= (n.541-4G=)
c.124-4G= (n.124-4G=)
11g.2583432C>ACA008690KCNQ1c.661-3C>A (n.661-3C>A)
c.478-3C>A (n.478-3C>A)
c.922-3C>A (n.922-3C>A)
c.541-3C>A (n.541-3C>A)
c.124-3C>A (n.124-3C>A)
 ClinVar dbSNP gnomAD v4
11g.2583432C=CA1948224526KCNQ1c.661-3C= (n.661-3C=)
c.478-3C= (n.478-3C=)
c.922-3C= (n.922-3C=)
c.541-3C= (n.541-3C=)
c.124-3C= (n.124-3C=)
11g.2583433A=CA1948224538KCNQ1c.661-2A= (n.661-2A=)
c.478-2A= (n.478-2A=)
c.922-2A= (n.922-2A=)
c.541-2A= (n.541-2A=)
c.124-2A= (n.124-2A=)
11g.2583433A>CCA008683KCNQ1c.661-2A>C (n.661-2A>C)
c.478-2A>C (n.478-2A>C)
c.922-2A>C (n.922-2A>C)
c.541-2A>C (n.541-2A>C)
c.124-2A>C (n.124-2A>C)
 ClinVar dbSNP
11g.2583433A>GCA379132948KCNQ1c.661-2A>G (n.661-2A>G)
c.478-2A>G (n.478-2A>G)
c.922-2A>G (n.922-2A>G)
c.541-2A>G (n.541-2A>G)
c.124-2A>G (n.124-2A>G)
 ClinVar dbSNP
11g.2583433A>TCA379132947KCNQ1c.661-2A>T (n.661-2A>T)
c.478-2A>T (n.478-2A>T)
c.922-2A>T (n.922-2A>T)
c.541-2A>T (n.541-2A>T)
c.124-2A>T (n.124-2A>T)
11g.2583434G>ACA16042741KCNQ1c.661-1G>A (n.661-1G>A)
c.478-1G>A (n.478-1G>A)
c.922-1G>A (n.922-1G>A)
c.541-1G>A (n.541-1G>A)
c.124-1G>A (n.124-1G>A)
 ClinVar dbSNP
11g.2583434G>CCA008676KCNQ1c.661-1G>C (n.661-1G>C)
c.478-1G>C (n.478-1G>C)
c.922-1G>C (n.922-1G>C)
c.541-1G>C (n.541-1G>C)
c.124-1G>C (n.124-1G>C)
 ClinVar dbSNP
11g.2583434G=CA1948224543KCNQ1c.661-1G= (n.661-1G=)
c.478-1G= (n.478-1G=)
c.922-1G= (n.922-1G=)
c.541-1G= (n.541-1G=)
c.124-1G= (n.124-1G=)
11g.2583434G>TCA379132949KCNQ1c.661-1G>T (n.661-1G>T)
c.478-1G>T (n.478-1G>T)
c.922-1G>T (n.922-1G>T)
c.541-1G>T (n.541-1G>T)
c.124-1G>T (n.124-1G>T)
11g.2583435G>ACA379132950KCNQ1c.661G>A (p.Val221Ile)
c.478G>A (p.Val160Ile)
c.922G>A (p.Val308Ile)
c.541G>A (p.Val181Ile)
c.124G>A (p.Val42Ile)
11g.2583435G>CCA379132951KCNQ1c.661G>C (p.Val221Leu)
c.478G>C (p.Val160Leu)
c.922G>C (p.Val308Leu)
c.541G>C (p.Val181Leu)
c.124G>C (p.Val42Leu)
11g.2583435G>TCA379132952KCNQ1c.661G>T (p.Val221Phe)
c.478G>T (p.Val160Phe)
c.922G>T (p.Val308Phe)
c.541G>T (p.Val181Phe)
c.124G>T (p.Val42Phe)
11g.2583436T>ACA008698KCNQ1c.662T>A (p.Val221Asp)
c.479T>A (p.Val160Asp)
c.923T>A (p.Val308Asp)
c.542T>A (p.Val181Asp)
c.125T>A (p.Val42Asp)
 ClinVar dbSNP
11g.2583436T>CCA379132953KCNQ1c.662T>C (p.Val221Ala)
c.479T>C (p.Val160Ala)
c.923T>C (p.Val308Ala)
c.542T>C (p.Val181Ala)
c.125T>C (p.Val42Ala)
 gnomAD v4
11g.2583436T>GCA379132954KCNQ1c.662T>G (p.Val221Gly)
c.479T>G (p.Val160Gly)
c.923T>G (p.Val308Gly)
c.542T>G (p.Val181Gly)
c.125T>G (p.Val42Gly)
11g.2583436T=CA1948224556KCNQ1c.662T= (p.Val221=)
c.479T= (p.Val160=)
c.923T= (p.Val308=)
c.542T= (p.Val181=)
c.125T= (p.Val42=)
11g.2583437C>ACA472038393KCNQ1c.663C>A (p.Val221=)
c.480C>A (p.Val160=)
c.924C>A (p.Val308=)
c.543C>A (p.Val181=)
c.126C>A (p.Val42=)
11g.2583437C>GCA472038395KCNQ1c.663C>G (p.Val221=)
c.480C>G (p.Val160=)
c.924C>G (p.Val308=)
c.543C>G (p.Val181=)
c.126C>G (p.Val42=)
11g.2583437C>TCA472038394KCNQ1c.663C>T (p.Val221=)
c.480C>T (p.Val160=)
c.924C>T (p.Val308=)
c.543C>T (p.Val181=)
c.126C>T (p.Val42=)
11g.2583439_2583440delCA2574728171KCNQ1c.665_666del (p.Thr222SerfsTer?)
c.482_483del (p.Thr161SerfsTer?)
c.926_927del (p.Thr309SerfsTer?)
c.545_546del (p.Thr182SerfsTer?)
c.128_129del (p.Thr43SerfsTer?)
11g.2583438A=CA1948224564KCNQ1c.664A= (p.Thr222=)
c.481A= (p.Thr161=)
c.925A= (p.Thr309=)
c.544A= (p.Thr182=)
c.127A= (p.Thr43=)
11g.2583438A>CCA379132955KCNQ1c.664A>C (p.Thr222Pro)
c.481A>C (p.Thr161Pro)
c.925A>C (p.Thr309Pro)
c.544A>C (p.Thr182Pro)
c.127A>C (p.Thr43Pro)
11g.2583438A>GCA379132956KCNQ1c.664A>G (p.Thr222Ala)
c.481A>G (p.Thr161Ala)
c.925A>G (p.Thr309Ala)
c.544A>G (p.Thr182Ala)
c.127A>G (p.Thr43Ala)
11g.2583438A>TCA008706KCNQ1c.664A>T (p.Thr222Ser)
c.481A>T (p.Thr161Ser)
c.925A>T (p.Thr309Ser)
c.544A>T (p.Thr182Ser)
c.127A>T (p.Thr43Ser)
 ClinVar dbSNP
11g.2583439C>ACA379132957KCNQ1c.665C>A (p.Thr222Lys)
c.482C>A (p.Thr161Lys)
c.926C>A (p.Thr309Lys)
c.545C>A (p.Thr182Lys)
c.128C>A (p.Thr43Lys)
11g.2583439C=CA1948224569KCNQ1c.665C= (p.Thr222=)
c.482C= (p.Thr161=)
c.926C= (p.Thr309=)
c.545C= (p.Thr182=)
c.128C= (p.Thr43=)
11g.2583439C>GCA008712KCNQ1c.665C>G (p.Thr222Arg)
c.482C>G (p.Thr161Arg)
c.926C>G (p.Thr309Arg)
c.545C>G (p.Thr182Arg)
c.128C>G (p.Thr43Arg)
 ClinVar dbSNP
11g.2583439C>TCA008720KCNQ1c.665C>T (p.Thr222Ile)
c.482C>T (p.Thr161Ile)
c.926C>T (p.Thr309Ile)
c.545C>T (p.Thr182Ile)
c.128C>T (p.Thr43Ile)
 ClinVar dbSNP
11g.2583440A>CCA472038396KCNQ1c.666A>C (p.Thr222=)
c.483A>C (p.Thr161=)
c.927A>C (p.Thr309=)
c.546A>C (p.Thr182=)
c.129A>C (p.Thr43=)
11g.2583440A>GCA472038397KCNQ1c.666A>G (p.Thr222=)
c.483A>G (p.Thr161=)
c.927A>G (p.Thr309=)
c.546A>G (p.Thr182=)
c.129A>G (p.Thr43=)
 gnomAD v4
11g.2583440A>TCA472038398KCNQ1c.666A>T (p.Thr222=)
c.483A>T (p.Thr161=)
c.927A>T (p.Thr309=)
c.546A>T (p.Thr182=)
c.129A>T (p.Thr43=)
 COSMIC
11g.2583441G>ACA008728KCNQ1c.667G>A (p.Val223Ile)
c.484G>A (p.Val162Ile)
c.928G>A (p.Val310Ile)
c.547G>A (p.Val183Ile)
c.130G>A (p.Val44Ile)
 ClinVar dbSNP gnomAD v4
11g.2583441G>CCA379132958KCNQ1c.667G>C (p.Val223Leu)
c.484G>C (p.Val162Leu)
c.928G>C (p.Val310Leu)
c.547G>C (p.Val183Leu)
c.130G>C (p.Val44Leu)
11g.2583441G=CA1948224599KCNQ1c.667G= (p.Val223=)
c.484G= (p.Val162=)
c.928G= (p.Val310=)
c.547G= (p.Val183=)
c.130G= (p.Val44=)
11g.2583441G>TCA379132959KCNQ1c.667G>T (p.Val223Phe)
c.484G>T (p.Val162Phe)
c.928G>T (p.Val310Phe)
c.547G>T (p.Val183Phe)
c.130G>T (p.Val44Phe)
11g.2583442T>ACA008737KCNQ1c.668T>A (p.Val223Asp)
c.485T>A (p.Val162Asp)
c.929T>A (p.Val310Asp)
c.548T>A (p.Val183Asp)
c.131T>A (p.Val44Asp)
 ClinVar dbSNP
11g.2583442T>CCA379132960KCNQ1c.668T>C (p.Val223Ala)
c.485T>C (p.Val162Ala)
c.929T>C (p.Val310Ala)
c.548T>C (p.Val183Ala)
c.131T>C (p.Val44Ala)

Number of alleles fetched