Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.2583442T>GCA379132961KCNQ1c.668T>G (p.Val223Gly)
c.485T>G (p.Val162Gly)
c.929T>G (p.Val310Gly)
c.548T>G (p.Val183Gly)
c.131T>G (p.Val44Gly)
11g.2583442T=CA1948224606KCNQ1c.668T= (p.Val223=)
c.485T= (p.Val162=)
c.929T= (p.Val310=)
c.548T= (p.Val183=)
c.131T= (p.Val44=)
11g.2583442_2583445delinsTCACCA1948224610KCNQ1c.668_671delinsTCAC (p.Val223=)
c.485_488delinsTCAC (p.Val162=)
c.929_932delinsTCAC (p.Val310=)
c.548_551delinsTCAC (p.Val183=)
c.131_134delinsTCAC (p.Val44=)
11g.2583443C>ACA041690KCNQ1c.669C>A (p.Val223=)
c.486C>A (p.Val162=)
c.930C>A (p.Val310=)
c.549C>A (p.Val183=)
c.132C>A (p.Val44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2583443C=CA1948224621KCNQ1c.669C= (p.Val223=)
c.486C= (p.Val162=)
c.930C= (p.Val310=)
c.549C= (p.Val183=)
c.132C= (p.Val44=)
11g.2583443C>GCA472038399KCNQ1c.669C>G (p.Val223=)
c.486C>G (p.Val162=)
c.930C>G (p.Val310=)
c.549C>G (p.Val183=)
c.132C>G (p.Val44=)
11g.2583443C>TCA472038400KCNQ1c.669C>T (p.Val223=)
c.486C>T (p.Val162=)
c.930C>T (p.Val310=)
c.549C>T (p.Val183=)
c.132C>T (p.Val44=)
11g.2583448_2583450delCA891843060KCNQ1c.674_676del (p.Thr225del)
c.491_493del (p.Thr164del)
c.935_937del (p.Thr312del)
c.554_556del (p.Thr185del)
c.137_139del (p.Thr46del)
dbSNP
11g.2583444delCA2580082599KCNQ1c.670del (p.Thr224ProfsTer?)
c.487del (p.Thr163ProfsTer?)
c.931del (p.Thr311ProfsTer?)
c.550del (p.Thr184ProfsTer?)
c.133del (p.Thr45ProfsTer?)
ClinVar
11g.2583444A=CA1948224627KCNQ1c.670A= (p.Thr224=)
c.487A= (p.Thr163=)
c.931A= (p.Thr311=)
c.550A= (p.Thr184=)
c.133A= (p.Thr45=)
11g.2583444A>CCA379132962KCNQ1c.670A>C (p.Thr224Pro)
c.487A>C (p.Thr163Pro)
c.931A>C (p.Thr311Pro)
c.550A>C (p.Thr184Pro)
c.133A>C (p.Thr45Pro)
11g.2583444A>GCA008744KCNQ1c.670A>G (p.Thr224Ala)
c.487A>G (p.Thr163Ala)
c.931A>G (p.Thr311Ala)
c.550A>G (p.Thr184Ala)
c.133A>G (p.Thr45Ala)
ClinVar dbSNP
11g.2583444A>TCA379132963KCNQ1c.670A>T (p.Thr224Ser)
c.487A>T (p.Thr163Ser)
c.931A>T (p.Thr311Ser)
c.550A>T (p.Thr184Ser)
c.133A>T (p.Thr45Ser)
11g.2583445C>ACA379132964KCNQ1c.671C>A (p.Thr224Asn)
c.488C>A (p.Thr163Asn)
c.932C>A (p.Thr311Asn)
c.551C>A (p.Thr184Asn)
c.134C>A (p.Thr45Asn)
gnomAD v4
11g.2583445C=CA1948224634KCNQ1c.671C= (p.Thr224=)
c.488C= (p.Thr163=)
c.932C= (p.Thr311=)
c.551C= (p.Thr184=)
c.134C= (p.Thr45=)
11g.2583445C>GCA379132965KCNQ1c.671C>G (p.Thr224Ser)
c.488C>G (p.Thr163Ser)
c.932C>G (p.Thr311Ser)
c.551C>G (p.Thr184Ser)
c.134C>G (p.Thr45Ser)
11g.2583445C>TCA008752KCNQ1c.671C>T (p.Thr224Ile)
c.488C>T (p.Thr163Ile)
c.932C>T (p.Thr311Ile)
c.551C>T (p.Thr184Ile)
c.134C>T (p.Thr45Ile)
ClinVar dbSNP gnomAD v2
11g.2583446C>ACA472038401KCNQ1c.672C>A (p.Thr224=)
c.489C>A (p.Thr163=)
c.933C>A (p.Thr311=)
c.552C>A (p.Thr184=)
c.135C>A (p.Thr45=)
COSMIC COSMIC
11g.2583446C>GCA472038402KCNQ1c.672C>G (p.Thr224=)
c.489C>G (p.Thr163=)
c.933C>G (p.Thr311=)
c.552C>G (p.Thr184=)
c.135C>G (p.Thr45=)
11g.2583446C>TCA472038403KCNQ1c.672C>T (p.Thr224=)
c.489C>T (p.Thr163=)
c.933C>T (p.Thr311=)
c.552C>T (p.Thr184=)
c.135C>T (p.Thr45=)
11g.2583447delCA645569428KCNQ1c.673del (p.Thr225ProfsTer?)
c.490del (p.Thr164ProfsTer?)
c.934del (p.Thr312ProfsTer?)
c.553del (p.Thr185ProfsTer?)
c.136del (p.Thr46ProfsTer?)
COSMIC COSMIC
11g.2583447A=CA1948224649KCNQ1c.673A= (p.Thr225=)
c.490A= (p.Thr164=)
c.934A= (p.Thr312=)
c.553A= (p.Thr185=)
c.136A= (p.Thr46=)

Number of alleles fetched