Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2583406G>ACA041551KCNQ1c.661-29G>A (n.661-29G>A)
c.478-29G>A (n.478-29G>A)
c.922-29G>A (n.922-29G>A)
c.541-29G>A (n.541-29G>A)
c.124-29G>A (n.124-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2583406G=CA1948224486KCNQ1c.661-29G= (n.661-29G=)
c.478-29G= (n.478-29G=)
c.922-29G= (n.922-29G=)
c.541-29G= (n.541-29G=)
c.124-29G= (n.124-29G=)
11g.2583406G>TCA2612002510KCNQ1c.661-29G>T (n.661-29G>T)
c.478-29G>T (n.478-29G>T)
c.922-29G>T (n.922-29G>T)
c.541-29G>T (n.541-29G>T)
c.124-29G>T (n.124-29G>T)
 gnomAD v4
11g.2583408G>ACA2612002512KCNQ1c.661-27G>A (n.661-27G>A)
c.478-27G>A (n.478-27G>A)
c.922-27G>A (n.922-27G>A)
c.541-27G>A (n.541-27G>A)
c.124-27G>A (n.124-27G>A)
 gnomAD v4
11g.2583408G>TCA653929635KCNQ1c.661-27G>T (n.661-27G>T)
c.478-27G>T (n.478-27G>T)
c.922-27G>T (n.922-27G>T)
c.541-27G>T (n.541-27G>T)
c.124-27G>T (n.124-27G>T)
 gnomAD v4 COSMIC
11g.2583409G>ACA2612002513KCNQ1c.661-26G>A (n.661-26G>A)
c.478-26G>A (n.478-26G>A)
c.922-26G>A (n.922-26G>A)
c.541-26G>A (n.541-26G>A)
c.124-26G>A (n.124-26G>A)
 gnomAD v4
11g.2583409_2583416delinsGCTGACCACA1948224489KCNQ1c.661-26_661-19delinsGCTGACCA (n.661-26_661-19delinsGCTGACCA)
c.478-26_478-19delinsGCTGACCA (n.478-26_478-19delinsGCTGACCA)
c.922-26_922-19delinsGCTGACCA (n.922-26_922-19delinsGCTGACCA)
c.541-26_541-19delinsGCTGACCA (n.541-26_541-19delinsGCTGACCA)
c.124-26_124-19delinsGCTGACCA (n.124-26_124-19delinsGCTGACCA)
11g.2583410C>ACA2574728164KCNQ1c.661-25C>A (n.661-25C>A)
c.478-25C>A (n.478-25C>A)
c.922-25C>A (n.922-25C>A)
c.541-25C>A (n.541-25C>A)
c.124-25C>A (n.124-25C>A)
 gnomAD v4
11g.2583410C>TCA2574728165KCNQ1c.661-25C>T (n.661-25C>T)
c.478-25C>T (n.478-25C>T)
c.922-25C>T (n.922-25C>T)
c.541-25C>T (n.541-25C>T)
c.124-25C>T (n.124-25C>T)
11g.2583413_2583419delCA041541KCNQ1c.661-22_661-16del (n.661-22_661-16del)
c.478-22_478-16del (n.478-22_478-16del)
c.922-22_922-16del (n.922-22_922-16del)
c.541-22_541-16del (n.541-22_541-16del)
c.124-22_124-16del (n.124-22_124-16del)
 dbSNP ExAC gnomAD v2
11g.2583412G>ACA2612002514KCNQ1c.661-23G>A (n.661-23G>A)
c.478-23G>A (n.478-23G>A)
c.922-23G>A (n.922-23G>A)
c.541-23G>A (n.541-23G>A)
c.124-23G>A (n.124-23G>A)
 gnomAD v4
11g.2583412G>TCA2612002515KCNQ1c.661-23G>T (n.661-23G>T)
c.478-23G>T (n.478-23G>T)
c.922-23G>T (n.922-23G>T)
c.541-23G>T (n.541-23G>T)
c.124-23G>T (n.124-23G>T)
 gnomAD v4
11g.2583413A=CA1948224493KCNQ1c.661-22A= (n.661-22A=)
c.478-22A= (n.478-22A=)
c.922-22A= (n.922-22A=)
c.541-22A= (n.541-22A=)
c.124-22A= (n.124-22A=)
11g.2583413A>CCA2612002516KCNQ1c.661-22A>C (n.661-22A>C)
c.478-22A>C (n.478-22A>C)
c.922-22A>C (n.922-22A>C)
c.541-22A>C (n.541-22A>C)
c.124-22A>C (n.124-22A>C)
 gnomAD v4
11g.2583413A>GCA216327074KCNQ1c.661-22A>G (n.661-22A>G)
c.478-22A>G (n.478-22A>G)
c.922-22A>G (n.922-22A>G)
c.541-22A>G (n.541-22A>G)
c.124-22A>G (n.124-22A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.2583414C>ACA2574728166KCNQ1c.661-21C>A (n.661-21C>A)
c.478-21C>A (n.478-21C>A)
c.922-21C>A (n.922-21C>A)
c.541-21C>A (n.541-21C>A)
c.124-21C>A (n.124-21C>A)
 gnomAD v4
11g.2583415dupCA1948224496KCNQ1c.661-20dup (n.661-20dup)
c.478-20dup (n.478-20dup)
c.922-20dup (n.922-20dup)
c.541-20dup (n.541-20dup)
c.124-20dup (n.124-20dup)
 dbSNP
11g.2583415C>ACA2612002518KCNQ1c.661-20C>A (n.661-20C>A)
c.478-20C>A (n.478-20C>A)
c.922-20C>A (n.922-20C>A)
c.541-20C>A (n.541-20C>A)
c.124-20C>A (n.124-20C>A)
 gnomAD v4
11g.2583415C=CA1948224499KCNQ1c.661-20C= (n.661-20C=)
c.478-20C= (n.478-20C=)
c.922-20C= (n.922-20C=)
c.541-20C= (n.541-20C=)
c.124-20C= (n.124-20C=)
11g.2583415C>TCA674983005KCNQ1c.661-20C>T (n.661-20C>T)
c.478-20C>T (n.478-20C>T)
c.922-20C>T (n.922-20C>T)
c.541-20C>T (n.541-20C>T)
c.124-20C>T (n.124-20C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2583416A>GCA2612002521KCNQ1c.661-19A>G (n.661-19A>G)
c.478-19A>G (n.478-19A>G)
c.922-19A>G (n.922-19A>G)
c.541-19A>G (n.541-19A>G)
c.124-19A>G (n.124-19A>G)
 gnomAD v4
11g.2583417C>ACA2574728168KCNQ1c.661-18C>A (n.661-18C>A)
c.478-18C>A (n.478-18C>A)
c.922-18C>A (n.922-18C>A)
c.541-18C>A (n.541-18C>A)
c.124-18C>A (n.124-18C>A)
 gnomAD v4
11g.2583417C=CA1948224502KCNQ1c.661-18C= (n.661-18C=)
c.478-18C= (n.478-18C=)
c.922-18C= (n.922-18C=)
c.541-18C= (n.541-18C=)
c.124-18C= (n.124-18C=)
11g.2583417C>TCA041525KCNQ1c.661-18C>T (n.661-18C>T)
c.478-18C>T (n.478-18C>T)
c.922-18C>T (n.922-18C>T)
c.541-18C>T (n.541-18C>T)
c.124-18C>T (n.124-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583418T>CCA2612002524KCNQ1c.661-17T>C (n.661-17T>C)
c.478-17T>C (n.478-17T>C)
c.922-17T>C (n.922-17T>C)
c.541-17T>C (n.541-17T>C)
c.124-17T>C (n.124-17T>C)
 gnomAD v4
11g.2583421C>ACA2612002527KCNQ1c.661-14C>A (n.661-14C>A)
c.478-14C>A (n.478-14C>A)
c.922-14C>A (n.922-14C>A)
c.541-14C>A (n.541-14C>A)
c.124-14C>A (n.124-14C>A)
 gnomAD v4
11g.2583421C=CA1948224512KCNQ1c.661-14C= (n.661-14C=)
c.478-14C= (n.478-14C=)
c.922-14C= (n.922-14C=)
c.541-14C= (n.541-14C=)
c.124-14C= (n.124-14C=)
11g.2583421C>TCA597110462KCNQ1c.661-14C>T (n.661-14C>T)
c.478-14C>T (n.478-14C>T)
c.922-14C>T (n.922-14C>T)
c.541-14C>T (n.541-14C>T)
c.124-14C>T (n.124-14C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.2583422C>ACA2612002528KCNQ1c.661-13C>A (n.661-13C>A)
c.478-13C>A (n.478-13C>A)
c.922-13C>A (n.922-13C>A)
c.541-13C>A (n.541-13C>A)
c.124-13C>A (n.124-13C>A)
 gnomAD v4
11g.2583422C>GCA2612002530KCNQ1c.661-13C>G (n.661-13C>G)
c.478-13C>G (n.478-13C>G)
c.922-13C>G (n.922-13C>G)
c.541-13C>G (n.541-13C>G)
c.124-13C>G (n.124-13C>G)
 gnomAD v4
11g.2583422C>TCA2612002529KCNQ1c.661-13C>T (n.661-13C>T)
c.478-13C>T (n.478-13C>T)
c.922-13C>T (n.922-13C>T)
c.541-13C>T (n.541-13C>T)
c.124-13C>T (n.124-13C>T)
 gnomAD v4
11g.2583423C>ACA2612002532KCNQ1c.661-12C>A (n.661-12C>A)
c.478-12C>A (n.478-12C>A)
c.922-12C>A (n.922-12C>A)
c.541-12C>A (n.541-12C>A)
c.124-12C>A (n.124-12C>A)
 gnomAD v4
11g.2583423C=CA1948224513KCNQ1c.661-12C= (n.661-12C=)
c.478-12C= (n.478-12C=)
c.922-12C= (n.922-12C=)
c.541-12C= (n.541-12C=)
c.124-12C= (n.124-12C=)
11g.2583423C>TCA674983011KCNQ1c.661-12C>T (n.661-12C>T)
c.478-12C>T (n.478-12C>T)
c.922-12C>T (n.922-12C>T)
c.541-12C>T (n.541-12C>T)
c.124-12C>T (n.124-12C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2583424T>CCA2612002534KCNQ1c.661-11T>C (n.661-11T>C)
c.478-11T>C (n.478-11T>C)
c.922-11T>C (n.922-11T>C)
c.541-11T>C (n.541-11T>C)
c.124-11T>C (n.124-11T>C)
 gnomAD v4
11g.2583425C>ACA2612002535KCNQ1c.661-10C>A (n.661-10C>A)
c.478-10C>A (n.478-10C>A)
c.922-10C>A (n.922-10C>A)
c.541-10C>A (n.541-10C>A)
c.124-10C>A (n.124-10C>A)
 gnomAD v4
11g.2583425C>GCA2573332606KCNQ1c.661-10C>G (n.661-10C>G)
c.478-10C>G (n.478-10C>G)
c.922-10C>G (n.922-10C>G)
c.541-10C>G (n.541-10C>G)
c.124-10C>G (n.124-10C>G)
11g.2583426T>ACA2612002536KCNQ1c.661-9T>A (n.661-9T>A)
c.478-9T>A (n.478-9T>A)
c.922-9T>A (n.922-9T>A)
c.541-9T>A (n.541-9T>A)
c.124-9T>A (n.124-9T>A)
 gnomAD v4
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)
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)
 ClinVar 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=)
11g.2583447A>CCA379132968KCNQ1c.673A>C (p.Thr225Pro)
c.490A>C (p.Thr164Pro)
c.934A>C (p.Thr312Pro)
c.553A>C (p.Thr185Pro)
c.136A>C (p.Thr46Pro)
11g.2583447A>GCA379132967KCNQ1c.673A>G (p.Thr225Ala)
c.490A>G (p.Thr164Ala)
c.934A>G (p.Thr312Ala)
c.553A>G (p.Thr185Ala)
c.136A>G (p.Thr46Ala)
11g.2583447A>TCA379132966KCNQ1c.673A>T (p.Thr225Ser)
c.490A>T (p.Thr164Ser)
c.934A>T (p.Thr312Ser)
c.553A>T (p.Thr185Ser)
c.136A>T (p.Thr46Ser)
 ClinVar dbSNP
11g.2583447_2583454dupCA2573146065KCNQ1c.673_680dup (p.Tyr228ProfsTer?)
c.490_497dup (p.Tyr167ProfsTer?)
c.934_941dup (p.Tyr315ProfsTer?)
c.553_560dup (p.Tyr188ProfsTer?)
c.136_143dup (p.Tyr49ProfsTer?)
 ClinVar dbSNP
11g.2583448C>ACA379132969KCNQ1c.674C>A (p.Thr225Asn)
c.491C>A (p.Thr164Asn)
c.935C>A (p.Thr312Asn)
c.554C>A (p.Thr185Asn)
c.137C>A (p.Thr46Asn)
11g.2583448C=CA1948224658KCNQ1c.674C= (p.Thr225=)
c.491C= (p.Thr164=)
c.935C= (p.Thr312=)
c.554C= (p.Thr185=)
c.137C= (p.Thr46=)
11g.2583448C>GCA379132970KCNQ1c.674C>G (p.Thr225Ser)
c.491C>G (p.Thr164Ser)
c.935C>G (p.Thr312Ser)
c.554C>G (p.Thr185Ser)
c.137C>G (p.Thr46Ser)
11g.2583448C>TCA008759KCNQ1c.674C>T (p.Thr225Ile)
c.491C>T (p.Thr164Ile)
c.935C>T (p.Thr312Ile)
c.554C>T (p.Thr185Ile)
c.137C>T (p.Thr46Ile)
 ClinVar dbSNP
11g.2583449C>ACA472038404KCNQ1c.675C>A (p.Thr225=)
c.492C>A (p.Thr164=)
c.936C>A (p.Thr312=)
c.555C>A (p.Thr185=)
c.138C>A (p.Thr46=)
11g.2583449C=CA1948224665KCNQ1c.675C= (p.Thr225=)
c.492C= (p.Thr164=)
c.936C= (p.Thr312=)
c.555C= (p.Thr185=)
c.138C= (p.Thr46=)
11g.2583449C>GCA472038405KCNQ1c.675C>G (p.Thr225=)
c.492C>G (p.Thr164=)
c.936C>G (p.Thr312=)
c.555C>G (p.Thr185=)
c.138C>G (p.Thr46=)
11g.2583449C>TCA041750KCNQ1c.675C>T (p.Thr225=)
c.492C>T (p.Thr164=)
c.936C>T (p.Thr312=)
c.555C>T (p.Thr185=)
c.138C>T (p.Thr46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583450A=CA1948224672KCNQ1c.676A= (p.Ile226=)
c.493A= (p.Ile165=)
c.937A= (p.Ile313=)
c.556A= (p.Ile186=)
c.139A= (p.Ile47=)
11g.2583450A>CCA379132973KCNQ1c.676A>C (p.Ile226Leu)
c.493A>C (p.Ile165Leu)
c.937A>C (p.Ile313Leu)
c.556A>C (p.Ile186Leu)
c.139A>C (p.Ile47Leu)
11g.2583450A>GCA379132971KCNQ1c.676A>G (p.Ile226Val)
c.493A>G (p.Ile165Val)
c.937A>G (p.Ile313Val)
c.556A>G (p.Ile186Val)
c.139A>G (p.Ile47Val)
11g.2583450A>TCA379132972KCNQ1c.676A>T (p.Ile226Phe)
c.493A>T (p.Ile165Phe)
c.937A>T (p.Ile313Phe)
c.556A>T (p.Ile186Phe)
c.139A>T (p.Ile47Phe)
 ClinVar dbSNP
11g.2583451T>ACA379132974KCNQ1c.677T>A (p.Ile226Asn)
c.494T>A (p.Ile165Asn)
c.938T>A (p.Ile313Asn)
c.557T>A (p.Ile186Asn)
c.140T>A (p.Ile47Asn)
11g.2583451T>CCA379132975KCNQ1c.677T>C (p.Ile226Thr)
c.494T>C (p.Ile165Thr)
c.938T>C (p.Ile313Thr)
c.557T>C (p.Ile186Thr)
c.140T>C (p.Ile47Thr)
11g.2583451T>GCA379132976KCNQ1c.677T>G (p.Ile226Ser)
c.494T>G (p.Ile165Ser)
c.938T>G (p.Ile313Ser)
c.557T>G (p.Ile186Ser)
c.140T>G (p.Ile47Ser)
11g.2583451_2583452delinsAACA2695213186KCNQ1c.677_678delinsAA (p.Ile226Lys)
c.494_495delinsAA (p.Ile165Lys)
c.938_939delinsAA (p.Ile313Lys)
c.557_558delinsAA (p.Ile186Lys)
c.140_141delinsAA (p.Ile47Lys)
11g.2583452C>ACA472038406KCNQ1c.678C>A (p.Ile226=)
c.495C>A (p.Ile165=)
c.939C>A (p.Ile313=)
c.558C>A (p.Ile186=)
c.141C>A (p.Ile47=)
11g.2583452C=CA1948224679KCNQ1c.678C= (p.Ile226=)
c.495C= (p.Ile165=)
c.939C= (p.Ile313=)
c.558C= (p.Ile186=)
c.141C= (p.Ile47=)
11g.2583452C>GCA008767KCNQ1c.678C>G (p.Ile226Met)
c.495C>G (p.Ile165Met)
c.939C>G (p.Ile313Met)
c.558C>G (p.Ile186Met)
c.141C>G (p.Ile47Met)
 ClinVar dbSNP
11g.2583452C>TCA041764KCNQ1c.678C>T (p.Ile226=)
c.495C>T (p.Ile165=)
c.939C>T (p.Ile313=)
c.558C>T (p.Ile186=)
c.141C>T (p.Ile47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2583453G>ACA008773KCNQ1c.679G>A (p.Gly227Ser)
c.496G>A (p.Gly166Ser)
c.940G>A (p.Gly314Ser)
c.559G>A (p.Gly187Ser)
c.142G>A (p.Gly48Ser)
 ClinVar dbSNP
11g.2583453G>CCA008777KCNQ1c.679G>C (p.Gly227Arg)
c.496G>C (p.Gly166Arg)
c.940G>C (p.Gly314Arg)
c.559G>C (p.Gly187Arg)
c.142G>C (p.Gly48Arg)
 ClinVar dbSNP
11g.2583453G=CA1948224692KCNQ1c.679G= (p.Gly227=)
c.496G= (p.Gly166=)
c.940G= (p.Gly314=)
c.559G= (p.Gly187=)
c.142G= (p.Gly48=)
11g.2583453G>TCA008786KCNQ1c.679G>T (p.Gly227Cys)
c.496G>T (p.Gly166Cys)
c.940G>T (p.Gly314Cys)
c.559G>T (p.Gly187Cys)
c.142G>T (p.Gly48Cys)
 ClinVar dbSNP
11g.2583454G>ACA008793KCNQ1c.680G>A (p.Gly227Asp)
c.497G>A (p.Gly166Asp)
c.941G>A (p.Gly314Asp)
c.560G>A (p.Gly187Asp)
c.143G>A (p.Gly48Asp)
 ClinVar dbSNP
11g.2583454G>CCA008798KCNQ1c.680G>C (p.Gly227Ala)
c.497G>C (p.Gly166Ala)
c.941G>C (p.Gly314Ala)
c.560G>C (p.Gly187Ala)
c.143G>C (p.Gly48Ala)
 ClinVar dbSNP
11g.2583454G=CA1948224700KCNQ1c.680G= (p.Gly227=)
c.497G= (p.Gly166=)
c.941G= (p.Gly314=)
c.560G= (p.Gly187=)
c.143G= (p.Gly48=)
11g.2583454G>TCA379132977KCNQ1c.680G>T (p.Gly227Val)
c.497G>T (p.Gly166Val)
c.941G>T (p.Gly314Val)
c.560G>T (p.Gly187Val)
c.143G>T (p.Gly48Val)
11g.2583455C>ACA472038407KCNQ1c.681C>A (p.Gly227=)
c.498C>A (p.Gly166=)
c.942C>A (p.Gly314=)
c.561C>A (p.Gly187=)
c.144C>A (p.Gly48=)
11g.2583455C>GCA472038408KCNQ1c.681C>G (p.Gly227=)
c.498C>G (p.Gly166=)
c.942C>G (p.Gly314=)
c.561C>G (p.Gly187=)
c.144C>G (p.Gly48=)
11g.2583455C>TCA472038409KCNQ1c.681C>T (p.Gly227=)
c.498C>T (p.Gly166=)
c.942C>T (p.Gly314=)
c.561C>T (p.Gly187=)
c.144C>T (p.Gly48=)
11g.2583456T>ACA379132980KCNQ1c.682T>A (p.Tyr228Asn)
c.499T>A (p.Tyr167Asn)
c.943T>A (p.Tyr315Asn)
c.562T>A (p.Tyr188Asn)
c.145T>A (p.Tyr49Asn)
 ClinVar dbSNP
11g.2583456T>CCA379132979KCNQ1c.682T>C (p.Tyr228His)
c.499T>C (p.Tyr167His)
c.943T>C (p.Tyr315His)
c.562T>C (p.Tyr188His)
c.145T>C (p.Tyr49His)
 ClinVar dbSNP
11g.2583456T>GCA379132978KCNQ1c.682T>G (p.Tyr228Asp)
c.499T>G (p.Tyr167Asp)
c.943T>G (p.Tyr315Asp)
c.562T>G (p.Tyr188Asp)
c.145T>G (p.Tyr49Asp)
11g.2583456T=CA1948224708KCNQ1c.682T= (p.Tyr228=)
c.499T= (p.Tyr167=)
c.943T= (p.Tyr315=)
c.562T= (p.Tyr188=)
c.145T= (p.Tyr49=)
11g.2583457A=CA1948224723KCNQ1c.683A= (p.Tyr228=)
c.500A= (p.Tyr167=)
c.944A= (p.Tyr315=)
c.563A= (p.Tyr188=)
c.146A= (p.Tyr49=)
11g.2583457A>CCA008803KCNQ1c.683A>C (p.Tyr228Ser)
c.500A>C (p.Tyr167Ser)
c.944A>C (p.Tyr315Ser)
c.563A>C (p.Tyr188Ser)
c.146A>C (p.Tyr49Ser)
 ClinVar dbSNP
11g.2583457A>GCA008807KCNQ1c.683A>G (p.Tyr228Cys)
c.500A>G (p.Tyr167Cys)
c.944A>G (p.Tyr315Cys)
c.563A>G (p.Tyr188Cys)
c.146A>G (p.Tyr49Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.2583457A>TCA008817KCNQ1c.683A>T (p.Tyr228Phe)
c.500A>T (p.Tyr167Phe)
c.944A>T (p.Tyr315Phe)
c.563A>T (p.Tyr188Phe)
c.146A>T (p.Tyr49Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.2583458T>ACA379132981KCNQ1c.684T>A (p.Tyr228Ter)
c.501T>A (p.Tyr167Ter)
c.945T>A (p.Tyr315Ter)
c.564T>A (p.Tyr188Ter)
c.147T>A (p.Tyr49Ter)
11g.2583458T>CCA041785KCNQ1c.684T>C (p.Tyr228=)
c.501T>C (p.Tyr167=)
c.945T>C (p.Tyr315=)
c.564T>C (p.Tyr188=)
c.147T>C (p.Tyr49=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583458T>GCA379132982KCNQ1c.684T>G (p.Tyr228Ter)
c.501T>G (p.Tyr167Ter)
c.945T>G (p.Tyr315Ter)
c.564T>G (p.Tyr188Ter)
c.147T>G (p.Tyr49Ter)
11g.2583458T=CA1948224744KCNQ1c.684T= (p.Tyr228=)
c.501T= (p.Tyr167=)
c.945T= (p.Tyr315=)
c.564T= (p.Tyr188=)
c.147T= (p.Tyr49=)
11g.2583459G>ACA008823KCNQ1c.685G>A (p.Gly229Arg)
c.502G>A (p.Gly168Arg)
c.946G>A (p.Gly316Arg)
c.565G>A (p.Gly189Arg)
c.148G>A (p.Gly50Arg)
 ClinVar dbSNP
11g.2583459G>CCA008832KCNQ1c.685G>C (p.Gly229Arg)
c.502G>C (p.Gly168Arg)
c.946G>C (p.Gly316Arg)
c.565G>C (p.Gly189Arg)
c.148G>C (p.Gly50Arg)
 ClinVar dbSNP
11g.2583459G=CA1948224751KCNQ1c.685G= (p.Gly229=)
c.502G= (p.Gly168=)
c.946G= (p.Gly316=)
c.565G= (p.Gly189=)
c.148G= (p.Gly50=)
11g.2583459G>TCA008840KCNQ1c.685G>T (p.Gly229Trp)
c.502G>T (p.Gly168Trp)
c.946G>T (p.Gly316Trp)
c.565G>T (p.Gly189Trp)
c.148G>T (p.Gly50Trp)
 ClinVar dbSNP
11g.2583460G>ACA008848KCNQ1c.686G>A (p.Gly229Glu)
c.503G>A (p.Gly168Glu)
c.947G>A (p.Gly316Glu)
c.566G>A (p.Gly189Glu)
c.149G>A (p.Gly50Glu)
 ClinVar dbSNP
11g.2583460G>CCA379132983KCNQ1c.686G>C (p.Gly229Ala)
c.503G>C (p.Gly168Ala)
c.947G>C (p.Gly316Ala)
c.566G>C (p.Gly189Ala)
c.149G>C (p.Gly50Ala)
 ClinVar
11g.2583460G=CA1948224760KCNQ1c.686G= (p.Gly229=)
c.503G= (p.Gly168=)
c.947G= (p.Gly316=)
c.566G= (p.Gly189=)
c.149G= (p.Gly50=)
11g.2583460G>TCA008856KCNQ1c.686G>T (p.Gly229Val)
c.503G>T (p.Gly168Val)
c.947G>T (p.Gly316Val)
c.566G>T (p.Gly189Val)
c.149G>T (p.Gly50Val)
 ClinVar dbSNP
11g.2583461G>ACA472038410KCNQ1c.687G>A (p.Gly229=)
c.504G>A (p.Gly168=)
c.948G>A (p.Gly316=)
c.567G>A (p.Gly189=)
c.150G>A (p.Gly50=)
 ClinVar dbSNP
11g.2583461G>CCA008864KCNQ1c.687G>C (p.Gly229=)
c.504G>C (p.Gly168=)
c.948G>C (p.Gly316=)
c.567G>C (p.Gly189=)
c.150G>C (p.Gly50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583461G=CA1948224775KCNQ1c.687G= (p.Gly229=)
c.504G= (p.Gly168=)
c.948G= (p.Gly316=)
c.567G= (p.Gly189=)
c.150G= (p.Gly50=)
11g.2583461G>TCA472038411KCNQ1c.687G>T (p.Gly229=)
c.504G>T (p.Gly168=)
c.948G>T (p.Gly316=)
c.567G>T (p.Gly189=)
c.150G>T (p.Gly50=)
11g.2583462G>ACA008869KCNQ1c.688G>A (p.Asp230Asn)
c.505G>A (p.Asp169Asn)
c.949G>A (p.Asp317Asn)
c.568G>A (p.Asp190Asn)
c.151G>A (p.Asp51Asn)
 ClinVar dbSNP
11g.2583462G>CCA379132984KCNQ1c.688G>C (p.Asp230His)
c.505G>C (p.Asp169His)
c.949G>C (p.Asp317His)
c.568G>C (p.Asp190His)
c.151G>C (p.Asp51His)
11g.2583462G=CA1948224789KCNQ1c.688G= (p.Asp230=)
c.505G= (p.Asp169=)
c.949G= (p.Asp317=)
c.568G= (p.Asp190=)
c.151G= (p.Asp51=)
11g.2583462G>TCA008878KCNQ1c.688G>T (p.Asp230Tyr)
c.505G>T (p.Asp169Tyr)
c.949G>T (p.Asp317Tyr)
c.568G>T (p.Asp190Tyr)
c.151G>T (p.Asp51Tyr)
 ClinVar dbSNP
11g.2583463A=CA1948224796KCNQ1c.689A= (p.Asp230=)
c.506A= (p.Asp169=)
c.950A= (p.Asp317=)
c.569A= (p.Asp190=)
c.152A= (p.Asp51=)
11g.2583463A>CCA379132985KCNQ1c.689A>C (p.Asp230Ala)
c.506A>C (p.Asp169Ala)
c.950A>C (p.Asp317Ala)
c.569A>C (p.Asp190Ala)
c.152A>C (p.Asp51Ala)
 ClinVar dbSNP
11g.2583463A>GCA008884KCNQ1c.689A>G (p.Asp230Gly)
c.506A>G (p.Asp169Gly)
c.950A>G (p.Asp317Gly)
c.569A>G (p.Asp190Gly)
c.152A>G (p.Asp51Gly)
 ClinVar dbSNP
11g.2583463A>TCA379132986KCNQ1c.689A>T (p.Asp230Val)
c.506A>T (p.Asp169Val)
c.950A>T (p.Asp317Val)
c.569A>T (p.Asp190Val)
c.152A>T (p.Asp51Val)
11g.2583464C>ACA379132987KCNQ1c.690C>A (p.Asp230Glu)
c.507C>A (p.Asp169Glu)
c.951C>A (p.Asp317Glu)
c.570C>A (p.Asp190Glu)
c.153C>A (p.Asp51Glu)
11g.2583464C>GCA379132988KCNQ1c.690C>G (p.Asp230Glu)
c.507C>G (p.Asp169Glu)
c.951C>G (p.Asp317Glu)
c.570C>G (p.Asp190Glu)
c.153C>G (p.Asp51Glu)
 gnomAD v4
11g.2583464C>TCA472038412KCNQ1c.690C>T (p.Asp230=)
c.507C>T (p.Asp169=)
c.951C>T (p.Asp317=)
c.570C>T (p.Asp190=)
c.153C>T (p.Asp51=)
11g.2583465A>CCA379132989KCNQ1c.691A>C (p.Lys231Gln)
c.508A>C (p.Lys170Gln)
c.952A>C (p.Lys318Gln)
c.571A>C (p.Lys191Gln)
c.154A>C (p.Lys52Gln)
11g.2583465A>GCA379132990KCNQ1c.691A>G (p.Lys231Glu)
c.508A>G (p.Lys170Glu)
c.952A>G (p.Lys318Glu)
c.571A>G (p.Lys191Glu)
c.154A>G (p.Lys52Glu)
11g.2583465A>TCA379132991KCNQ1c.691A>T (p.Lys231Ter)
c.508A>T (p.Lys170Ter)
c.952A>T (p.Lys318Ter)
c.571A>T (p.Lys191Ter)
c.154A>T (p.Lys52Ter)
11g.2583466A=CA1948224809KCNQ1c.692A= (p.Lys231=)
c.509A= (p.Lys170=)
c.953A= (p.Lys318=)
c.572A= (p.Lys191=)
c.155A= (p.Lys52=)
11g.2583466A>CCA008890KCNQ1c.692A>C (p.Lys231Thr)
c.509A>C (p.Lys170Thr)
c.953A>C (p.Lys318Thr)
c.572A>C (p.Lys191Thr)
c.155A>C (p.Lys52Thr)
 ClinVar dbSNP gnomAD v4
11g.2583466A>GCA379132992KCNQ1c.692A>G (p.Lys231Arg)
c.509A>G (p.Lys170Arg)
c.953A>G (p.Lys318Arg)
c.572A>G (p.Lys191Arg)
c.155A>G (p.Lys52Arg)
11g.2583466A>TCA379132993KCNQ1c.692A>T (p.Lys231Met)
c.509A>T (p.Lys170Met)
c.953A>T (p.Lys318Met)
c.572A>T (p.Lys191Met)
c.155A>T (p.Lys52Met)
11g.2583467G>ACA472038413KCNQ1c.693G>A (p.Lys231=)
c.510G>A (p.Lys170=)
c.954G>A (p.Lys318=)
c.573G>A (p.Lys191=)
c.156G>A (p.Lys52=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2583467G>CCA008895KCNQ1c.693G>C (p.Lys231Asn)
c.510G>C (p.Lys170Asn)
c.954G>C (p.Lys318Asn)
c.573G>C (p.Lys191Asn)
c.156G>C (p.Lys52Asn)
 ClinVar dbSNP
11g.2583467G=CA1948224817KCNQ1c.693G= (p.Lys231=)
c.510G= (p.Lys170=)
c.954G= (p.Lys318=)
c.573G= (p.Lys191=)
c.156G= (p.Lys52=)
11g.2583467G>TCA379132994KCNQ1c.693G>T (p.Lys231Asn)
c.510G>T (p.Lys170Asn)
c.954G>T (p.Lys318Asn)
c.573G>T (p.Lys191Asn)
c.156G>T (p.Lys52Asn)
11g.2583468G>ACA379132995KCNQ1c.694G>A (p.Val232Met)
c.511G>A (p.Val171Met)
c.955G>A (p.Val319Met)
c.574G>A (p.Val192Met)
c.157G>A (p.Val53Met)
 ClinVar dbSNP
11g.2583468G>CCA379132997KCNQ1c.694G>C (p.Val232Leu)
c.511G>C (p.Val171Leu)
c.955G>C (p.Val319Leu)
c.574G>C (p.Val192Leu)
c.157G>C (p.Val53Leu)
11g.2583468G=CA1948224824KCNQ1c.694G= (p.Val232=)
c.511G= (p.Val171=)
c.955G= (p.Val319=)
c.574G= (p.Val192=)
c.157G= (p.Val53=)
11g.2583468G>TCA379132996KCNQ1c.694G>T (p.Val232Leu)
c.511G>T (p.Val171Leu)
c.955G>T (p.Val319Leu)
c.574G>T (p.Val192Leu)
c.157G>T (p.Val53Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.2583469T>ACA379132998KCNQ1c.695T>A (p.Val232Glu)
c.512T>A (p.Val171Glu)
c.956T>A (p.Val319Glu)
c.575T>A (p.Val192Glu)
c.158T>A (p.Val53Glu)
11g.2583469T>CCA379132999KCNQ1c.695T>C (p.Val232Ala)
c.512T>C (p.Val171Ala)
c.956T>C (p.Val319Ala)
c.575T>C (p.Val192Ala)
c.158T>C (p.Val53Ala)
11g.2583469T>GCA379133000KCNQ1c.695T>G (p.Val232Gly)
c.512T>G (p.Val171Gly)
c.956T>G (p.Val319Gly)
c.575T>G (p.Val192Gly)
c.158T>G (p.Val53Gly)
 dbSNP COSMIC COSMIC
11g.2583469T=CA1948224833KCNQ1c.695T= (p.Val232=)
c.512T= (p.Val171=)
c.956T= (p.Val319=)
c.575T= (p.Val192=)
c.158T= (p.Val53=)
11g.2583470G>ACA216327228KCNQ1c.696G>A (p.Val232=)
c.513G>A (p.Val171=)
c.957G>A (p.Val319=)
c.576G>A (p.Val192=)
c.159G>A (p.Val53=)
 dbSNP
11g.2583470G>CCA472038414KCNQ1c.696G>C (p.Val232=)
c.513G>C (p.Val171=)
c.957G>C (p.Val319=)
c.576G>C (p.Val192=)
c.159G>C (p.Val53=)
11g.2583470G=CA1948224839KCNQ1c.696G= (p.Val232=)
c.513G= (p.Val171=)
c.957G= (p.Val319=)
c.576G= (p.Val192=)
c.159G= (p.Val53=)
11g.2583470G>TCA16606302KCNQ1c.696G>T (p.Val232=)
c.513G>T (p.Val171=)
c.957G>T (p.Val319=)
c.576G>T (p.Val192=)
c.159G>T (p.Val53=)
 ClinVar dbSNP gnomAD v4
11g.2583470_2583471delinsTTCA2580082604KCNQ1c.696_697delinsTT (p.Pro233Ser)
c.513_514delinsTT (p.Pro172Ser)
c.957_958delinsTT (p.Pro320Ser)
c.576_577delinsTT (p.Pro193Ser)
c.159_160delinsTT (p.Pro54Ser)
 ClinVar
11g.2583471C>ACA379133001KCNQ1c.697C>A (p.Pro233Thr)
c.514C>A (p.Pro172Thr)
c.958C>A (p.Pro320Thr)
c.577C>A (p.Pro193Thr)
c.160C>A (p.Pro54Thr)
11g.2583471C=CA1948224843KCNQ1c.697C= (p.Pro233=)
c.514C= (p.Pro172=)
c.958C= (p.Pro320=)
c.577C= (p.Pro193=)
c.160C= (p.Pro54=)
11g.2583471C>GCA008901KCNQ1c.697C>G (p.Pro233Ala)
c.514C>G (p.Pro172Ala)
c.958C>G (p.Pro320Ala)
c.577C>G (p.Pro193Ala)
c.160C>G (p.Pro54Ala)
 ClinVar dbSNP
11g.2583471C>TCA008910KCNQ1c.697C>T (p.Pro233Ser)
c.514C>T (p.Pro172Ser)
c.958C>T (p.Pro320Ser)
c.577C>T (p.Pro193Ser)
c.160C>T (p.Pro54Ser)
 ClinVar dbSNP gnomAD v4
11g.2583472C>ACA008917KCNQ1c.698C>A (p.Pro233His)
c.515C>A (p.Pro172His)
c.959C>A (p.Pro320His)
c.578C>A (p.Pro193His)
c.161C>A (p.Pro54His)
 ClinVar dbSNP
11g.2583472C=CA1948224851KCNQ1c.698C= (p.Pro233=)
c.515C= (p.Pro172=)
c.959C= (p.Pro320=)
c.578C= (p.Pro193=)
c.161C= (p.Pro54=)
11g.2583472C>GCA379133002KCNQ1c.698C>G (p.Pro233Arg)
c.515C>G (p.Pro172Arg)
c.959C>G (p.Pro320Arg)
c.578C>G (p.Pro193Arg)
c.161C>G (p.Pro54Arg)
 ClinVar
11g.2583472C>TCA379133003KCNQ1c.698C>T (p.Pro233Leu)
c.515C>T (p.Pro172Leu)
c.959C>T (p.Pro320Leu)
c.578C>T (p.Pro193Leu)
c.161C>T (p.Pro54Leu)
 ClinVar dbSNP
11g.2583472_2583473delinsTTCA645569440KCNQ1c.698_699delinsTT (p.Pro233Leu)
c.515_516delinsTT (p.Pro172Leu)
c.959_960delinsTT (p.Pro320Leu)
c.578_579delinsTT (p.Pro193Leu)
c.161_162delinsTT (p.Pro54Leu)
 COSMIC
11g.2583473C>ACA472038415KCNQ1c.699C>A (p.Pro233=)
c.516C>A (p.Pro172=)
c.960C>A (p.Pro320=)
c.579C>A (p.Pro193=)
c.162C>A (p.Pro54=)
11g.2583473C=CA1948224859KCNQ1c.699C= (p.Pro233=)
c.516C= (p.Pro172=)
c.960C= (p.Pro320=)
c.579C= (p.Pro193=)
c.162C= (p.Pro54=)
11g.2583473C>GCA472038416KCNQ1c.699C>G (p.Pro233=)
c.516C>G (p.Pro172=)
c.960C>G (p.Pro320=)
c.579C>G (p.Pro193=)
c.162C>G (p.Pro54=)
 dbSNP gnomAD v2
11g.2583473C>TCA041816KCNQ1c.699C>T (p.Pro233=)
c.516C>T (p.Pro172=)
c.960C>T (p.Pro320=)
c.579C>T (p.Pro193=)
c.162C>T (p.Pro54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583474C>ACA379133005KCNQ1c.700C>A (p.Gln234Lys)
c.517C>A (p.Gln173Lys)
c.961C>A (p.Gln321Lys)
c.580C>A (p.Gln194Lys)
c.163C>A (p.Gln55Lys)
11g.2583474C=CA1948224864KCNQ1c.700C= (p.Gln234=)
c.517C= (p.Gln173=)
c.961C= (p.Gln321=)
c.580C= (p.Gln194=)
c.163C= (p.Gln55=)
11g.2583474C>GCA379133004KCNQ1c.700C>G (p.Gln234Glu)
c.517C>G (p.Gln173Glu)
c.961C>G (p.Gln321Glu)
c.580C>G (p.Gln194Glu)
c.163C>G (p.Gln55Glu)
11g.2583474C>TCA008923KCNQ1c.700C>T (p.Gln234Ter)
c.517C>T (p.Gln173Ter)
c.961C>T (p.Gln321Ter)
c.580C>T (p.Gln194Ter)
c.163C>T (p.Gln55Ter)
 ClinVar dbSNP
11g.2583475A=CA1948224869KCNQ1c.701A= (p.Gln234=)
c.518A= (p.Gln173=)
c.962A= (p.Gln321=)
c.581A= (p.Gln194=)
c.164A= (p.Gln55=)
11g.2583475A>CCA008930KCNQ1c.701A>C (p.Gln234Pro)
c.518A>C (p.Gln173Pro)
c.962A>C (p.Gln321Pro)
c.581A>C (p.Gln194Pro)
c.164A>C (p.Gln55Pro)
 ClinVar dbSNP
11g.2583475A>GCA379133007KCNQ1c.701A>G (p.Gln234Arg)
c.518A>G (p.Gln173Arg)
c.962A>G (p.Gln321Arg)
c.581A>G (p.Gln194Arg)
c.164A>G (p.Gln55Arg)
11g.2583475A>TCA379133006KCNQ1c.701A>T (p.Gln234Leu)
c.518A>T (p.Gln173Leu)
c.962A>T (p.Gln321Leu)
c.581A>T (p.Gln194Leu)
c.164A>T (p.Gln55Leu)
 dbSNP
11g.2583476G>ACA472038417KCNQ1c.702G>A (p.Gln234=)
c.519G>A (p.Gln173=)
c.963G>A (p.Gln321=)
c.582G>A (p.Gln194=)
c.165G>A (p.Gln55=)
11g.2583476G>CCA379133008KCNQ1c.702G>C (p.Gln234His)
c.519G>C (p.Gln173His)
c.963G>C (p.Gln321His)
c.582G>C (p.Gln194His)
c.165G>C (p.Gln55His)
11g.2583476G>TCA379133009KCNQ1c.702G>T (p.Gln234His)
c.519G>T (p.Gln173His)
c.963G>T (p.Gln321His)
c.582G>T (p.Gln194His)
c.165G>T (p.Gln55His)
11g.2583477A=CA1948224876KCNQ1c.703A= (p.Thr235=)
c.520A= (p.Thr174=)
c.964A= (p.Thr322=)
c.583A= (p.Thr195=)
c.166A= (p.Thr56=)
11g.2583477A>CCA379133010KCNQ1c.703A>C (p.Thr235Pro)
c.520A>C (p.Thr174Pro)
c.964A>C (p.Thr322Pro)
c.583A>C (p.Thr195Pro)
c.166A>C (p.Thr56Pro)
 ClinVar dbSNP
11g.2583477A>GCA008936KCNQ1c.703A>G (p.Thr235Ala)
c.520A>G (p.Thr174Ala)
c.964A>G (p.Thr322Ala)
c.583A>G (p.Thr195Ala)
c.166A>G (p.Thr56Ala)
 ClinVar dbSNP
11g.2583477A>TCA379133011KCNQ1c.703A>T (p.Thr235Ser)
c.520A>T (p.Thr174Ser)
c.964A>T (p.Thr322Ser)
c.583A>T (p.Thr195Ser)
c.166A>T (p.Thr56Ser)
11g.2583478C>ACA008945KCNQ1c.704C>A (p.Thr235Lys)
c.521C>A (p.Thr174Lys)
c.965C>A (p.Thr322Lys)
c.584C>A (p.Thr195Lys)
c.167C>A (p.Thr56Lys)
 ClinVar dbSNP gnomAD v4
11g.2583478C=CA1948224889KCNQ1c.704C= (p.Thr235=)
c.521C= (p.Thr174=)
c.965C= (p.Thr322=)
c.584C= (p.Thr195=)
c.167C= (p.Thr56=)
11g.2583478C>GCA008952KCNQ1c.704C>G (p.Thr235Arg)
c.521C>G (p.Thr174Arg)
c.965C>G (p.Thr322Arg)
c.584C>G (p.Thr195Arg)
c.167C>G (p.Thr56Arg)
 ClinVar dbSNP
11g.2583478C>TCA008957KCNQ1c.704C>T (p.Thr235Met)
c.521C>T (p.Thr174Met)
c.965C>T (p.Thr322Met)
c.584C>T (p.Thr195Met)
c.167C>T (p.Thr56Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2583479G>ACA041835KCNQ1c.705G>A (p.Thr235=)
c.522G>A (p.Thr174=)
c.966G>A (p.Thr322=)
c.585G>A (p.Thr195=)
c.168G>A (p.Thr56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2583479G>CCA472038418KCNQ1c.705G>C (p.Thr235=)
c.522G>C (p.Thr174=)
c.966G>C (p.Thr322=)
c.585G>C (p.Thr195=)
c.168G>C (p.Thr56=)
11g.2583479G=CA1948224904KCNQ1c.705G= (p.Thr235=)
c.522G= (p.Thr174=)
c.966G= (p.Thr322=)
c.585G= (p.Thr195=)
c.168G= (p.Thr56=)
11g.2583479G>TCA472038419KCNQ1c.705G>T (p.Thr235=)
c.522G>T (p.Thr174=)
c.966G>T (p.Thr322=)
c.585G>T (p.Thr195=)
c.168G>T (p.Thr56=)
 COSMIC COSMIC
11g.2583480T>ACA379133012KCNQ1c.706T>A (p.Trp236Arg)
c.523T>A (p.Trp175Arg)
c.967T>A (p.Trp323Arg)
c.586T>A (p.Trp196Arg)
c.169T>A (p.Trp57Arg)
11g.2583480T>CCA379133013KCNQ1c.706T>C (p.Trp236Arg)
c.523T>C (p.Trp175Arg)
c.967T>C (p.Trp323Arg)
c.586T>C (p.Trp196Arg)
c.169T>C (p.Trp57Arg)
11g.2583480T>GCA379133014KCNQ1c.706T>G (p.Trp236Gly)
c.523T>G (p.Trp175Gly)
c.967T>G (p.Trp323Gly)
c.586T>G (p.Trp196Gly)
c.169T>G (p.Trp57Gly)
11g.2583481G>ACA379133015KCNQ1c.707G>A (p.Trp236Ter)
c.524G>A (p.Trp175Ter)
c.968G>A (p.Trp323Ter)
c.587G>A (p.Trp196Ter)
c.170G>A (p.Trp57Ter)
 ClinVar COSMIC COSMIC
11g.2583481G>CCA379133017KCNQ1c.707G>C (p.Trp236Ser)
c.524G>C (p.Trp175Ser)
c.968G>C (p.Trp323Ser)
c.587G>C (p.Trp196Ser)
c.170G>C (p.Trp57Ser)
11g.2583481G>TCA379133016KCNQ1c.707G>T (p.Trp236Leu)
c.524G>T (p.Trp175Leu)
c.968G>T (p.Trp323Leu)
c.587G>T (p.Trp196Leu)
c.170G>T (p.Trp57Leu)
11g.2583482G>ACA008966KCNQ1c.708G>A (p.Trp236Ter)
c.525G>A (p.Trp175Ter)
c.969G>A (p.Trp323Ter)
c.588G>A (p.Trp196Ter)
c.171G>A (p.Trp57Ter)
 ClinVar dbSNP
11g.2583482G>CCA379133018KCNQ1c.708G>C (p.Trp236Cys)
c.525G>C (p.Trp175Cys)
c.969G>C (p.Trp323Cys)
c.588G>C (p.Trp196Cys)
c.171G>C (p.Trp57Cys)
11g.2583482G=CA1948224913KCNQ1c.708G= (p.Trp236=)
c.525G= (p.Trp175=)
c.969G= (p.Trp323=)
c.588G= (p.Trp196=)
c.171G= (p.Trp57=)
11g.2583482G>TCA379133019KCNQ1c.708G>T (p.Trp236Cys)
c.525G>T (p.Trp175Cys)
c.969G>T (p.Trp323Cys)
c.588G>T (p.Trp196Cys)
c.171G>T (p.Trp57Cys)
11g.2583483G>ACA379133020KCNQ1c.709G>A (p.Val237Ile)
c.526G>A (p.Val176Ile)
c.970G>A (p.Val324Ile)
c.589G>A (p.Val197Ile)
c.172G>A (p.Val58Ile)
 ClinVar dbSNP
11g.2583483G>CCA379133021KCNQ1c.709G>C (p.Val237Leu)
c.526G>C (p.Val176Leu)
c.970G>C (p.Val324Leu)
c.589G>C (p.Val197Leu)
c.172G>C (p.Val58Leu)
 gnomAD v4
11g.2583483G=CA1948224920KCNQ1c.709G= (p.Val237=)
c.526G= (p.Val176=)
c.970G= (p.Val324=)
c.589G= (p.Val197=)
c.172G= (p.Val58=)
11g.2583483G>TCA379133022KCNQ1c.709G>T (p.Val237Phe)
c.526G>T (p.Val176Phe)
c.970G>T (p.Val324Phe)
c.589G>T (p.Val197Phe)
c.172G>T (p.Val58Phe)
 ClinVar dbSNP gnomAD v4
11g.2583484T>ACA379133023KCNQ1c.710T>A (p.Val237Asp)
c.527T>A (p.Val176Asp)
c.971T>A (p.Val324Asp)
c.590T>A (p.Val197Asp)
c.173T>A (p.Val58Asp)
11g.2583484T>CCA379133024KCNQ1c.710T>C (p.Val237Ala)
c.527T>C (p.Val176Ala)
c.971T>C (p.Val324Ala)
c.590T>C (p.Val197Ala)
c.173T>C (p.Val58Ala)
11g.2583484T>GCA379133025KCNQ1c.710T>G (p.Val237Gly)
c.527T>G (p.Val176Gly)
c.971T>G (p.Val324Gly)
c.590T>G (p.Val197Gly)
c.173T>G (p.Val58Gly)
11g.2583485C>ACA472038420KCNQ1c.711C>A (p.Val237=)
c.528C>A (p.Val176=)
c.972C>A (p.Val324=)
c.591C>A (p.Val197=)
c.174C>A (p.Val58=)
 dbSNP gnomAD v3 gnomAD v4
11g.2583485C=CA1948224929KCNQ1c.711C= (p.Val237=)
c.528C= (p.Val176=)
c.972C= (p.Val324=)
c.591C= (p.Val197=)
c.174C= (p.Val58=)
11g.2583485C>GCA472038421KCNQ1c.711C>G (p.Val237=)
c.528C>G (p.Val176=)
c.972C>G (p.Val324=)
c.591C>G (p.Val197=)
c.174C>G (p.Val58=)
 ClinVar gnomAD v4
11g.2583485C>TCA041844KCNQ1c.711C>T (p.Val237=)
c.528C>T (p.Val176=)
c.972C>T (p.Val324=)
c.591C>T (p.Val197=)
c.174C>T (p.Val58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2583486G>ACA008972KCNQ1c.712G>A (p.Gly238Arg)
c.529G>A (p.Gly177Arg)
c.973G>A (p.Gly325Arg)
c.592G>A (p.Gly198Arg)
c.175G>A (p.Gly59Arg)
 ClinVar dbSNP gnomAD v4
11g.2583486G>CCA379133027KCNQ1c.712G>C (p.Gly238Arg)
c.529G>C (p.Gly177Arg)
c.973G>C (p.Gly325Arg)
c.592G>C (p.Gly198Arg)
c.175G>C (p.Gly59Arg)
 ClinVar dbSNP
11g.2583486G=CA1948224938KCNQ1c.712G= (p.Gly238=)
c.529G= (p.Gly177=)
c.973G= (p.Gly325=)
c.592G= (p.Gly198=)
c.175G= (p.Gly59=)
11g.2583486G>TCA379133026KCNQ1c.712G>T (p.Gly238Trp)
c.529G>T (p.Gly177Trp)
c.973G>T (p.Gly325Trp)
c.592G>T (p.Gly198Trp)
c.175G>T (p.Gly59Trp)
 ClinVar dbSNP
11g.2583487G>ACA008978KCNQ1c.713G>A (p.Gly238Glu)
c.530G>A (p.Gly177Glu)
c.974G>A (p.Gly325Glu)
c.593G>A (p.Gly198Glu)
c.176G>A (p.Gly59Glu)
 ClinVar dbSNP
11g.2583487G>CCA379133028KCNQ1c.713G>C (p.Gly238Ala)
c.530G>C (p.Gly177Ala)
c.974G>C (p.Gly325Ala)
c.593G>C (p.Gly198Ala)
c.176G>C (p.Gly59Ala)
11g.2583487G=CA1948224946KCNQ1c.713G= (p.Gly238=)
c.530G= (p.Gly177=)
c.974G= (p.Gly325=)
c.593G= (p.Gly198=)
c.176G= (p.Gly59=)
11g.2583487G>TCA379133029KCNQ1c.713G>T (p.Gly238Val)
c.530G>T (p.Gly177Val)
c.974G>T (p.Gly325Val)
c.593G>T (p.Gly198Val)
c.176G>T (p.Gly59Val)
11g.2583488G>ACA472038422KCNQ1c.714G>A (p.Gly238=)
c.531G>A (p.Gly177=)
c.975G>A (p.Gly325=)
c.594G>A (p.Gly198=)
c.177G>A (p.Gly59=)
 ClinVar dbSNP gnomAD v4
11g.2583488G>CCA472038423KCNQ1c.714G>C (p.Gly238=)
c.531G>C (p.Gly177=)
c.975G>C (p.Gly325=)
c.594G>C (p.Gly198=)
c.177G>C (p.Gly59=)
11g.2583488G>TCA472038424KCNQ1c.714G>T (p.Gly238=)
c.531G>T (p.Gly177=)
c.975G>T (p.Gly325=)
c.594G>T (p.Gly198=)
c.177G>T (p.Gly59=)
11g.2583489A>CCA379133030KCNQ1c.715A>C (p.Lys239Gln)
c.532A>C (p.Lys178Gln)
c.976A>C (p.Lys326Gln)
c.595A>C (p.Lys199Gln)
c.178A>C (p.Lys60Gln)
11g.2583489A>GCA379133031KCNQ1c.715A>G (p.Lys239Glu)
c.532A>G (p.Lys178Glu)
c.976A>G (p.Lys326Glu)
c.595A>G (p.Lys199Glu)
c.178A>G (p.Lys60Glu)
11g.2583489A>TCA379133032KCNQ1c.715A>T (p.Lys239Ter)
c.532A>T (p.Lys178Ter)
c.976A>T (p.Lys326Ter)
c.595A>T (p.Lys199Ter)
c.178A>T (p.Lys60Ter)
11g.2583490A>CCA379133035KCNQ1c.716A>C (p.Lys239Thr)
c.533A>C (p.Lys178Thr)
c.977A>C (p.Lys326Thr)
c.596A>C (p.Lys199Thr)
c.179A>C (p.Lys60Thr)
11g.2583490A>GCA379133033KCNQ1c.716A>G (p.Lys239Arg)
c.533A>G (p.Lys178Arg)
c.977A>G (p.Lys326Arg)
c.596A>G (p.Lys199Arg)
c.179A>G (p.Lys60Arg)
11g.2583490A>TCA379133034KCNQ1c.716A>T (p.Lys239Met)
c.533A>T (p.Lys178Met)
c.977A>T (p.Lys326Met)
c.596A>T (p.Lys199Met)
c.179A>T (p.Lys60Met)
11g.2583491G>ACA472038425KCNQ1c.717G>A (p.Lys239=)
c.534G>A (p.Lys178=)
c.978G>A (p.Lys326=)
c.597G>A (p.Lys199=)
c.180G>A (p.Lys60=)
11g.2583491G>CCA379133036KCNQ1c.717G>C (p.Lys239Asn)
c.534G>C (p.Lys178Asn)
c.978G>C (p.Lys326Asn)
c.597G>C (p.Lys199Asn)
c.180G>C (p.Lys60Asn)
11g.2583491G>TCA379133037KCNQ1c.717G>T (p.Lys239Asn)
c.534G>T (p.Lys178Asn)
c.978G>T (p.Lys326Asn)
c.597G>T (p.Lys199Asn)
c.180G>T (p.Lys60Asn)
11g.2583492A=CA1948224955KCNQ1c.718A= (p.Thr240=)
c.535A= (p.Thr179=)
c.979A= (p.Thr327=)
c.598A= (p.Thr200=)
c.181A= (p.Thr61=)
11g.2583492A>CCA379133038KCNQ1c.718A>C (p.Thr240Pro)
c.535A>C (p.Thr179Pro)
c.979A>C (p.Thr327Pro)
c.598A>C (p.Thr200Pro)
c.181A>C (p.Thr61Pro)
11g.2583492A>GCA379133039KCNQ1c.718A>G (p.Thr240Ala)
c.535A>G (p.Thr179Ala)
c.979A>G (p.Thr327Ala)
c.598A>G (p.Thr200Ala)
c.181A>G (p.Thr61Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.2583492A>TCA379133040KCNQ1c.718A>T (p.Thr240Ser)
c.535A>T (p.Thr179Ser)
c.979A>T (p.Thr327Ser)
c.598A>T (p.Thr200Ser)
c.181A>T (p.Thr61Ser)
11g.2583493C>ACA379133041KCNQ1c.719C>A (p.Thr240Asn)
c.536C>A (p.Thr179Asn)
c.980C>A (p.Thr327Asn)
c.599C>A (p.Thr200Asn)
c.182C>A (p.Thr61Asn)
11g.2583493C=CA1948224964KCNQ1c.719C= (p.Thr240=)
c.536C= (p.Thr179=)
c.980C= (p.Thr327=)
c.599C= (p.Thr200=)
c.182C= (p.Thr61=)
11g.2583493C>GCA041882KCNQ1c.719C>G (p.Thr240Ser)
c.536C>G (p.Thr179Ser)
c.980C>G (p.Thr327Ser)
c.599C>G (p.Thr200Ser)
c.182C>G (p.Thr61Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2583493C>TCA379133042KCNQ1c.719C>T (p.Thr240Ile)
c.536C>T (p.Thr179Ile)
c.980C>T (p.Thr327Ile)
c.599C>T (p.Thr200Ile)
c.182C>T (p.Thr61Ile)
11g.2583495_2583503delCA2695213187KCNQ1c.721_729del (p.Ile241_Ser243del)
c.538_546del (p.Ile180_Ser182del)
c.982_990del (p.Ile328_Ser330del)
c.601_609del (p.Ile201_Ser203del)
c.184_192del (p.Ile62_Ser64del)
11g.2583494C>ACA472038426KCNQ1c.720C>A (p.Thr240=)
c.537C>A (p.Thr179=)
c.981C>A (p.Thr327=)
c.600C>A (p.Thr200=)
c.183C>A (p.Thr61=)
11g.2583494C=CA1948224968KCNQ1c.720C= (p.Thr240=)
c.537C= (p.Thr179=)
c.981C= (p.Thr327=)
c.600C= (p.Thr200=)
c.183C= (p.Thr61=)
11g.2583494C>GCA472038427KCNQ1c.720C>G (p.Thr240=)
c.537C>G (p.Thr179=)
c.981C>G (p.Thr327=)
c.600C>G (p.Thr200=)
c.183C>G (p.Thr61=)
11g.2583494C>TCA472038428KCNQ1c.720C>T (p.Thr240=)
c.537C>T (p.Thr179=)
c.981C>T (p.Thr327=)
c.600C>T (p.Thr200=)
c.183C>T (p.Thr61=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2583495A>CCA379133043KCNQ1c.721A>C (p.Ile241Leu)
c.538A>C (p.Ile180Leu)
c.982A>C (p.Ile328Leu)
c.601A>C (p.Ile201Leu)
c.184A>C (p.Ile62Leu)
11g.2583495A>GCA379133044KCNQ1c.721A>G (p.Ile241Val)
c.538A>G (p.Ile180Val)
c.982A>G (p.Ile328Val)
c.601A>G (p.Ile201Val)
c.184A>G (p.Ile62Val)
 gnomAD v4
11g.2583495A>TCA379133045KCNQ1c.721A>T (p.Ile241Phe)
c.538A>T (p.Ile180Phe)
c.982A>T (p.Ile328Phe)
c.601A>T (p.Ile201Phe)
c.184A>T (p.Ile62Phe)
11g.2583496T>ACA379133046KCNQ1c.722T>A (p.Ile241Asn)
c.539T>A (p.Ile180Asn)
c.983T>A (p.Ile328Asn)
c.602T>A (p.Ile201Asn)
c.185T>A (p.Ile62Asn)
11g.2583496T>CCA379133047KCNQ1c.722T>C (p.Ile241Thr)
c.539T>C (p.Ile180Thr)
c.983T>C (p.Ile328Thr)
c.602T>C (p.Ile201Thr)
c.185T>C (p.Ile62Thr)
11g.2583496T>GCA379133048KCNQ1c.722T>G (p.Ile241Ser)
c.539T>G (p.Ile180Ser)
c.983T>G (p.Ile328Ser)
c.602T>G (p.Ile201Ser)
c.185T>G (p.Ile62Ser)
11g.2583497C>ACA472038429KCNQ1c.723C>A (p.Ile241=)
c.540C>A (p.Ile180=)
c.984C>A (p.Ile328=)
c.603C>A (p.Ile201=)
c.186C>A (p.Ile62=)
11g.2583497C=CA1948224977KCNQ1c.723C= (p.Ile241=)
c.540C= (p.Ile180=)
c.984C= (p.Ile328=)
c.603C= (p.Ile201=)
c.186C= (p.Ile62=)
11g.2583497C>GCA379133049KCNQ1c.723C>G (p.Ile241Met)
c.540C>G (p.Ile180Met)
c.984C>G (p.Ile328Met)
c.603C>G (p.Ile201Met)
c.186C>G (p.Ile62Met)
11g.2583497C>TCA041905KCNQ1c.723C>T (p.Ile241=)
c.540C>T (p.Ile180=)
c.984C>T (p.Ile328=)
c.603C>T (p.Ile201=)
c.186C>T (p.Ile62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2583498G>ACA041925KCNQ1c.724G>A (p.Ala242Thr)
c.541G>A (p.Ala181Thr)
c.985G>A (p.Ala329Thr)
c.604G>A (p.Ala202Thr)
c.187G>A (p.Ala63Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.2583498G>CCA379133050KCNQ1c.724G>C (p.Ala242Pro)
c.541G>C (p.Ala181Pro)
c.985G>C (p.Ala329Pro)
c.604G>C (p.Ala202Pro)
c.187G>C (p.Ala63Pro)
11g.2583498G=CA1948224993KCNQ1c.724G= (p.Ala242=)
c.541G= (p.Ala181=)
c.985G= (p.Ala329=)
c.604G= (p.Ala202=)
c.187G= (p.Ala63=)
11g.2583498G>TCA379133051KCNQ1c.724G>T (p.Ala242Ser)
c.541G>T (p.Ala181Ser)
c.985G>T (p.Ala329Ser)
c.604G>T (p.Ala202Ser)
c.187G>T (p.Ala63Ser)
 gnomAD v4
11g.2583499C>ACA379133053KCNQ1c.725C>A (p.Ala242Asp)
c.542C>A (p.Ala181Asp)
c.986C>A (p.Ala329Asp)
c.605C>A (p.Ala202Asp)
c.188C>A (p.Ala63Asp)
11g.2583499C=CA1948225001KCNQ1c.725C= (p.Ala242=)
c.542C= (p.Ala181=)
c.986C= (p.Ala329=)
c.605C= (p.Ala202=)
c.188C= (p.Ala63=)
11g.2583499C>GCA379133052KCNQ1c.725C>G (p.Ala242Gly)
c.542C>G (p.Ala181Gly)
c.986C>G (p.Ala329Gly)
c.605C>G (p.Ala202Gly)
c.188C>G (p.Ala63Gly)
11g.2583499C>TCA216327312KCNQ1c.725C>T (p.Ala242Val)
c.542C>T (p.Ala181Val)
c.986C>T (p.Ala329Val)
c.605C>T (p.Ala202Val)
c.188C>T (p.Ala63Val)
 ClinVar dbSNP gnomAD v4
11g.2583500C>ACA472038432KCNQ1c.726C>A (p.Ala242=)
c.543C>A (p.Ala181=)
c.987C>A (p.Ala329=)
c.606C>A (p.Ala202=)
c.189C>A (p.Ala63=)
11g.2583500C=CA1948225005KCNQ1c.726C= (p.Ala242=)
c.543C= (p.Ala181=)
c.987C= (p.Ala329=)
c.606C= (p.Ala202=)
c.189C= (p.Ala63=)
11g.2583500C>GCA472038430KCNQ1c.726C>G (p.Ala242=)
c.543C>G (p.Ala181=)
c.987C>G (p.Ala329=)
c.606C>G (p.Ala202=)
c.189C>G (p.Ala63=)
11g.2583500C>TCA472038431KCNQ1c.726C>T (p.Ala242=)
c.543C>T (p.Ala181=)
c.987C>T (p.Ala329=)
c.606C>T (p.Ala202=)
c.189C>T (p.Ala63=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2583501T>ACA379133054KCNQ1c.727T>A (p.Ser243Thr)
c.544T>A (p.Ser182Thr)
c.988T>A (p.Ser330Thr)
c.607T>A (p.Ser203Thr)
c.190T>A (p.Ser64Thr)
11g.2583501T>CCA379133056KCNQ1c.727T>C (p.Ser243Pro)
c.544T>C (p.Ser182Pro)
c.988T>C (p.Ser330Pro)
c.607T>C (p.Ser203Pro)
c.190T>C (p.Ser64Pro)
11g.2583501T>GCA379133055KCNQ1c.727T>G (p.Ser243Ala)
c.544T>G (p.Ser182Ala)
c.988T>G (p.Ser330Ala)
c.607T>G (p.Ser203Ala)
c.190T>G (p.Ser64Ala)
11g.2583502C>ACA379133057KCNQ1c.728C>A (p.Ser243Tyr)
c.545C>A (p.Ser182Tyr)
c.989C>A (p.Ser330Tyr)
c.608C>A (p.Ser203Tyr)
c.191C>A (p.Ser64Tyr)
 ClinVar
11g.2583502C>GCA379133059KCNQ1c.728C>G (p.Ser243Cys)
c.545C>G (p.Ser182Cys)
c.989C>G (p.Ser330Cys)
c.608C>G (p.Ser203Cys)
c.191C>G (p.Ser64Cys)
11g.2583502C>TCA379133058KCNQ1c.728C>T (p.Ser243Phe)
c.545C>T (p.Ser182Phe)
c.989C>T (p.Ser330Phe)
c.608C>T (p.Ser203Phe)
c.191C>T (p.Ser64Phe)
11g.2583502_2583505delinsCCTGCA1948225010KCNQ1c.728_731delinsCCTG (p.Ser243=)
c.545_548delinsCCTG (p.Ser182=)
c.989_992delinsCCTG (p.Ser330=)
c.608_611delinsCCTG (p.Ser203=)
c.191_194delinsCCTG (p.Ser64=)
11g.2583503C>ACA472038433KCNQ1c.729C>A (p.Ser243=)
c.546C>A (p.Ser182=)
c.990C>A (p.Ser330=)
c.609C>A (p.Ser203=)
c.192C>A (p.Ser64=)
11g.2583503C>GCA472038434KCNQ1c.729C>G (p.Ser243=)
c.546C>G (p.Ser182=)
c.990C>G (p.Ser330=)
c.609C>G (p.Ser203=)
c.192C>G (p.Ser64=)
11g.2583503C>TCA472038435KCNQ1c.729C>T (p.Ser243=)
c.546C>T (p.Ser182=)
c.990C>T (p.Ser330=)
c.609C>T (p.Ser203=)
c.192C>T (p.Ser64=)
11g.2583505_2583507delCA934462739KCNQ1c.731_733del (p.Cys244del)
c.548_550del (p.Cys183del)
c.992_994del (p.Cys331del)
c.611_613del (p.Cys204del)
c.194_196del (p.Cys65del)
 dbSNP gnomAD v3 gnomAD v4
11g.2583504T>ACA379133060KCNQ1c.730T>A (p.Cys244Ser)
c.547T>A (p.Cys183Ser)
c.991T>A (p.Cys331Ser)
c.610T>A (p.Cys204Ser)
c.193T>A (p.Cys65Ser)
11g.2583504T>CCA379133061KCNQ1c.730T>C (p.Cys244Arg)
c.547T>C (p.Cys183Arg)
c.991T>C (p.Cys331Arg)
c.610T>C (p.Cys204Arg)
c.193T>C (p.Cys65Arg)
11g.2583504T>GCA379133062KCNQ1c.730T>G (p.Cys244Gly)
c.547T>G (p.Cys183Gly)
c.991T>G (p.Cys331Gly)
c.610T>G (p.Cys204Gly)
c.193T>G (p.Cys65Gly)
11g.2583505G>ACA379133063KCNQ1c.731G>A (p.Cys244Tyr)
c.548G>A (p.Cys183Tyr)
c.992G>A (p.Cys331Tyr)
c.611G>A (p.Cys204Tyr)
c.194G>A (p.Cys65Tyr)
 ClinVar dbSNP
11g.2583505G>CCA379133064KCNQ1c.731G>C (p.Cys244Ser)
c.548G>C (p.Cys183Ser)
c.992G>C (p.Cys331Ser)
c.611G>C (p.Cys204Ser)
c.194G>C (p.Cys65Ser)
11g.2583505G=CA1948225014KCNQ1c.731G= (p.Cys244=)
c.548G= (p.Cys183=)
c.992G= (p.Cys331=)
c.611G= (p.Cys204=)
c.194G= (p.Cys65=)
11g.2583505G>TCA379133065KCNQ1c.731G>T (p.Cys244Phe)
c.548G>T (p.Cys183Phe)
c.992G>T (p.Cys331Phe)
c.611G>T (p.Cys204Phe)
c.194G>T (p.Cys65Phe)
11g.2583506C>ACA379133066KCNQ1c.732C>A (p.Cys244Ter)
c.549C>A (p.Cys183Ter)
c.993C>A (p.Cys331Ter)
c.612C>A (p.Cys204Ter)
c.195C>A (p.Cys65Ter)
11g.2583506C>GCA379133067KCNQ1c.732C>G (p.Cys244Trp)
c.549C>G (p.Cys183Trp)
c.993C>G (p.Cys331Trp)
c.612C>G (p.Cys204Trp)
c.195C>G (p.Cys65Trp)
11g.2583506C>TCA472038436KCNQ1c.732C>T (p.Cys244=)
c.549C>T (p.Cys183=)
c.993C>T (p.Cys331=)
c.612C>T (p.Cys204=)
c.195C>T (p.Cys65=)
 COSMIC COSMIC

Number of alleles fetched