Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2583546_2587569delCA1139661776KCNQ1c.771+1_772-1del
c.588+1_589-1del
c.1032+1_1129-1del
c.651+1_748-1del
c.234+1_235-1del
ClinVar
11g.2587522delCA2612003421KCNQ1c.772-48del (n.772-48del)
c.589-48del (n.589-48del)
c.1129-48del (n.1129-48del)
c.748-48del (n.748-48del)
c.235-48del (n.235-48del)
dbSNP gnomAD v4
11g.2587521C>GCA2612003424KCNQ1c.772-49C>G (n.772-49C>G)
c.589-49C>G (n.589-49C>G)
c.1129-49C>G (n.1129-49C>G)
c.748-49C>G (n.748-49C>G)
c.235-49C>G (n.235-49C>G)
gnomAD v4
11g.2587522C=CA1948232840KCNQ1c.772-48C= (n.772-48C=)
c.589-48C= (n.589-48C=)
c.1129-48C= (n.1129-48C=)
c.748-48C= (n.748-48C=)
c.235-48C= (n.235-48C=)
11g.2587522C>GCA597110991KCNQ1c.772-48C>G (n.772-48C>G)
c.589-48C>G (n.589-48C>G)
c.1129-48C>G (n.1129-48C>G)
c.748-48C>G (n.748-48C>G)
c.235-48C>G (n.235-48C>G)
dbSNP gnomAD v2 gnomAD v4
11g.2587522C>TCA027284KCNQ1c.772-48C>T (n.772-48C>T)
c.589-48C>T (n.589-48C>T)
c.1129-48C>T (n.1129-48C>T)
c.748-48C>T (n.748-48C>T)
c.235-48C>T (n.235-48C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587522_2587523delinsCGCA1948232838KCNQ1c.772-48_772-47delinsCG (n.772-48_772-47delinsCG)
c.589-48_589-47delinsCG (n.589-48_589-47delinsCG)
c.1129-48_1129-47delinsCG (n.1129-48_1129-47delinsCG)
c.748-48_748-47delinsCG (n.748-48_748-47delinsCG)
c.235-48_235-47delinsCG (n.235-48_235-47delinsCG)
11g.2587523delCA918805660KCNQ1c.772-47del (n.772-47del)
c.589-47del (n.589-47del)
c.1129-47del (n.1129-47del)
c.748-47del (n.748-47del)
c.235-47del (n.235-47del)
dbSNP
11g.2587523G>ACA027275KCNQ1c.772-47G>A (n.772-47G>A)
c.589-47G>A (n.589-47G>A)
c.1129-47G>A (n.1129-47G>A)
c.748-47G>A (n.748-47G>A)
c.235-47G>A (n.235-47G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587523G=CA1948232849KCNQ1c.772-47G= (n.772-47G=)
c.589-47G= (n.589-47G=)
c.1129-47G= (n.1129-47G=)
c.748-47G= (n.748-47G=)
c.235-47G= (n.235-47G=)
11g.2587523G>TCA1948232850KCNQ1c.772-47G>T (n.772-47G>T)
c.589-47G>T (n.589-47G>T)
c.1129-47G>T (n.1129-47G>T)
c.748-47G>T (n.748-47G>T)
c.235-47G>T (n.235-47G>T)
dbSNP gnomAD v4
11g.2587524C=CA1948232857KCNQ1c.772-46C= (n.772-46C=)
c.589-46C= (n.589-46C=)
c.1129-46C= (n.1129-46C=)
c.748-46C= (n.748-46C=)
c.235-46C= (n.235-46C=)
11g.2587524C>TCA027268KCNQ1c.772-46C>T (n.772-46C>T)
c.589-46C>T (n.589-46C>T)
c.1129-46C>T (n.1129-46C>T)
c.748-46C>T (n.748-46C>T)
c.235-46C>T (n.235-46C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587525C=CA1948232865KCNQ1c.772-45C= (n.772-45C=)
c.589-45C= (n.589-45C=)
c.1129-45C= (n.1129-45C=)
c.748-45C= (n.748-45C=)
c.235-45C= (n.235-45C=)
11g.2587525C>GCA674945512KCNQ1c.772-45C>G (n.772-45C>G)
c.589-45C>G (n.589-45C>G)
c.1129-45C>G (n.1129-45C>G)
c.748-45C>G (n.748-45C>G)
c.235-45C>G (n.235-45C>G)
dbSNP
11g.2587525C>TCA027259KCNQ1c.772-45C>T (n.772-45C>T)
c.589-45C>T (n.589-45C>T)
c.1129-45C>T (n.1129-45C>T)
c.748-45C>T (n.748-45C>T)
c.235-45C>T (n.235-45C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587526G>ACA027245KCNQ1c.772-44G>A (n.772-44G>A)
c.589-44G>A (n.589-44G>A)
c.1129-44G>A (n.1129-44G>A)
c.748-44G>A (n.748-44G>A)
c.235-44G>A (n.235-44G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587526G=CA1948232869KCNQ1c.772-44G= (n.772-44G=)
c.589-44G= (n.589-44G=)
c.1129-44G= (n.1129-44G=)
c.748-44G= (n.748-44G=)
c.235-44G= (n.235-44G=)
11g.2587526G>TCA027253KCNQ1c.772-44G>T (n.772-44G>T)
c.589-44G>T (n.589-44G>T)
c.1129-44G>T (n.1129-44G>T)
c.748-44G>T (n.748-44G>T)
c.235-44G>T (n.235-44G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587527G>CCA2612003426KCNQ1c.772-43G>C (n.772-43G>C)
c.589-43G>C (n.589-43G>C)
c.1129-43G>C (n.1129-43G>C)
c.748-43G>C (n.748-43G>C)
c.235-43G>C (n.235-43G>C)
gnomAD v4
11g.2587528G>TCA2612003427KCNQ1c.772-42G>T (n.772-42G>T)
c.589-42G>T (n.589-42G>T)
c.1129-42G>T (n.1129-42G>T)
c.748-42G>T (n.748-42G>T)
c.235-42G>T (n.235-42G>T)
gnomAD v4
11g.2587530G>ACA674945517KCNQ1c.772-40G>A (n.772-40G>A)
c.589-40G>A (n.589-40G>A)
c.1129-40G>A (n.1129-40G>A)
c.748-40G>A (n.748-40G>A)
c.235-40G>A (n.235-40G>A)
dbSNP
11g.2587530G=CA1948232873KCNQ1c.772-40G= (n.772-40G=)
c.589-40G= (n.589-40G=)
c.1129-40G= (n.1129-40G=)
c.748-40G= (n.748-40G=)
c.235-40G= (n.235-40G=)
11g.2587532C=CA1948232875KCNQ1c.772-38C= (n.772-38C=)
c.589-38C= (n.589-38C=)
c.1129-38C= (n.1129-38C=)
c.748-38C= (n.748-38C=)
c.235-38C= (n.235-38C=)
11g.2587532C>TCA597110998KCNQ1c.772-38C>T (n.772-38C>T)
c.589-38C>T (n.589-38C>T)
c.1129-38C>T (n.1129-38C>T)
c.748-38C>T (n.748-38C>T)
c.235-38C>T (n.235-38C>T)
dbSNP gnomAD v2 gnomAD v4
11g.2587534C=CA1948232880KCNQ1c.772-36C= (n.772-36C=)
c.589-36C= (n.589-36C=)
c.1129-36C= (n.1129-36C=)
c.748-36C= (n.748-36C=)
c.235-36C= (n.235-36C=)
11g.2587534C>TCA674945524KCNQ1c.772-36C>T (n.772-36C>T)
c.589-36C>T (n.589-36C>T)
c.1129-36C>T (n.1129-36C>T)
c.748-36C>T (n.748-36C>T)
c.235-36C>T (n.235-36C>T)
dbSNP gnomAD v4
11g.2587535A=CA1948232883KCNQ1c.772-35A= (n.772-35A=)
c.589-35A= (n.589-35A=)
c.1129-35A= (n.1129-35A=)
c.748-35A= (n.748-35A=)
c.235-35A= (n.235-35A=)
11g.2587535A>CCA934463813KCNQ1c.772-35A>C (n.772-35A>C)
c.589-35A>C (n.589-35A>C)
c.1129-35A>C (n.1129-35A>C)
c.748-35A>C (n.748-35A>C)
c.235-35A>C (n.235-35A>C)
dbSNP gnomAD v3 gnomAD v4
11g.2587538A=CA1948232889KCNQ1c.772-32A= (n.772-32A=)
c.589-32A= (n.589-32A=)
c.1129-32A= (n.1129-32A=)
c.748-32A= (n.748-32A=)
c.235-32A= (n.235-32A=)
11g.2587538A>GCA027237KCNQ1c.772-32A>G (n.772-32A>G)
c.589-32A>G (n.589-32A>G)
c.1129-32A>G (n.1129-32A>G)
c.748-32A>G (n.748-32A>G)
c.235-32A>G (n.235-32A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587539G>ACA597111000KCNQ1c.772-31G>A (n.772-31G>A)
c.589-31G>A (n.589-31G>A)
c.1129-31G>A (n.1129-31G>A)
c.748-31G>A (n.748-31G>A)
c.235-31G>A (n.235-31G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587539G=CA1948232892KCNQ1c.772-31G= (n.772-31G=)
c.589-31G= (n.589-31G=)
c.1129-31G= (n.1129-31G=)
c.748-31G= (n.748-31G=)
c.235-31G= (n.235-31G=)
11g.2587539G>TCA934463816KCNQ1c.772-31G>T (n.772-31G>T)
c.589-31G>T (n.589-31G>T)
c.1129-31G>T (n.1129-31G>T)
c.748-31G>T (n.748-31G>T)
c.235-31G>T (n.235-31G>T)
dbSNP gnomAD v3 gnomAD v4
11g.2587540G>ACA027232KCNQ1c.772-30G>A (n.772-30G>A)
c.589-30G>A (n.589-30G>A)
c.1129-30G>A (n.1129-30G>A)
c.748-30G>A (n.748-30G>A)
c.235-30G>A (n.235-30G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587540G=CA1948232897KCNQ1c.772-30G= (n.772-30G=)
c.589-30G= (n.589-30G=)
c.1129-30G= (n.1129-30G=)
c.748-30G= (n.748-30G=)
c.235-30G= (n.235-30G=)
11g.2587542G>ACA2612003429KCNQ1c.772-28G>A (n.772-28G>A)
c.589-28G>A (n.589-28G>A)
c.1129-28G>A (n.1129-28G>A)
c.748-28G>A (n.748-28G>A)
c.235-28G>A (n.235-28G>A)
gnomAD v4
11g.2587543A=CA1948232899KCNQ1c.772-27A= (n.772-27A=)
c.589-27A= (n.589-27A=)
c.1129-27A= (n.1129-27A=)
c.748-27A= (n.748-27A=)
c.235-27A= (n.235-27A=)
11g.2587543A>CCA1948232900KCNQ1c.772-27A>C (n.772-27A>C)
c.589-27A>C (n.589-27A>C)
c.1129-27A>C (n.1129-27A>C)
c.748-27A>C (n.748-27A>C)
c.235-27A>C (n.235-27A>C)
dbSNP
11g.2587544C=CA1948232901KCNQ1c.772-26C= (n.772-26C=)
c.589-26C= (n.589-26C=)
c.1129-26C= (n.1129-26C=)
c.748-26C= (n.748-26C=)
c.235-26C= (n.235-26C=)
11g.2587544C>TCA027219KCNQ1c.772-26C>T (n.772-26C>T)
c.589-26C>T (n.589-26C>T)
c.1129-26C>T (n.1129-26C>T)
c.748-26C>T (n.748-26C>T)
c.235-26C>T (n.235-26C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587545A=CA1948232902KCNQ1c.772-25A= (n.772-25A=)
c.589-25A= (n.589-25A=)
c.1129-25A= (n.1129-25A=)
c.748-25A= (n.748-25A=)
c.235-25A= (n.235-25A=)
11g.2587545A>GCA027212KCNQ1c.772-25A>G (n.772-25A>G)
c.589-25A>G (n.589-25A>G)
c.1129-25A>G (n.1129-25A>G)
c.748-25A>G (n.748-25A>G)
c.235-25A>G (n.235-25A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587548C>ACA1948232906KCNQ1c.772-22C>A (n.772-22C>A)
c.589-22C>A (n.589-22C>A)
c.1129-22C>A (n.1129-22C>A)
c.748-22C>A (n.748-22C>A)
c.235-22C>A (n.235-22C>A)
dbSNP
11g.2587548C=CA1948232905KCNQ1c.772-22C= (n.772-22C=)
c.589-22C= (n.589-22C=)
c.1129-22C= (n.1129-22C=)
c.748-22C= (n.748-22C=)
c.235-22C= (n.235-22C=)
11g.2587548C>GCA2612003430KCNQ1c.772-22C>G (n.772-22C>G)
c.589-22C>G (n.589-22C>G)
c.1129-22C>G (n.1129-22C>G)
c.748-22C>G (n.748-22C>G)
c.235-22C>G (n.235-22C>G)
gnomAD v4
11g.2587548C>TCA2612003431KCNQ1c.772-22C>T (n.772-22C>T)
c.589-22C>T (n.589-22C>T)
c.1129-22C>T (n.1129-22C>T)
c.748-22C>T (n.748-22C>T)
c.235-22C>T (n.235-22C>T)
gnomAD v4
11g.2587549T>GCA2574728268KCNQ1c.772-21T>G (n.772-21T>G)
c.589-21T>G (n.589-21T>G)
c.1129-21T>G (n.1129-21T>G)
c.748-21T>G (n.748-21T>G)
c.235-21T>G (n.235-21T>G)
11g.2587550G>ACA597111002KCNQ1c.772-20G>A (n.772-20G>A)
c.589-20G>A (n.589-20G>A)
c.1129-20G>A (n.1129-20G>A)
c.748-20G>A (n.748-20G>A)
c.235-20G>A (n.235-20G>A)
dbSNP gnomAD v2 gnomAD v4
11g.2587550G>CCA597111003KCNQ1c.772-20G>C (n.772-20G>C)
c.589-20G>C (n.589-20G>C)
c.1129-20G>C (n.1129-20G>C)
c.748-20G>C (n.748-20G>C)
c.235-20G>C (n.235-20G>C)
dbSNP gnomAD v2 gnomAD v4
11g.2587550G=CA1948232907KCNQ1c.772-20G= (n.772-20G=)
c.589-20G= (n.589-20G=)
c.1129-20G= (n.1129-20G=)
c.748-20G= (n.748-20G=)
c.235-20G= (n.235-20G=)
11g.2587550G>TCA2612003432KCNQ1c.772-20G>T (n.772-20G>T)
c.589-20G>T (n.589-20G>T)
c.1129-20G>T (n.1129-20G>T)
c.748-20G>T (n.748-20G>T)
c.235-20G>T (n.235-20G>T)
gnomAD v4
11g.2587551T>CCA2612003434KCNQ1c.772-19T>C (n.772-19T>C)
c.589-19T>C (n.589-19T>C)
c.1129-19T>C (n.1129-19T>C)
c.748-19T>C (n.748-19T>C)
c.235-19T>C (n.235-19T>C)
gnomAD v4
11g.2587551T>GCA2612003435KCNQ1c.772-19T>G (n.772-19T>G)
c.589-19T>G (n.589-19T>G)
c.1129-19T>G (n.1129-19T>G)
c.748-19T>G (n.748-19T>G)
c.235-19T>G (n.235-19T>G)
gnomAD v4
11g.2587552C>ACA2612003436KCNQ1c.772-18C>A (n.772-18C>A)
c.589-18C>A (n.589-18C>A)
c.1129-18C>A (n.1129-18C>A)
c.748-18C>A (n.748-18C>A)
c.235-18C>A (n.235-18C>A)
gnomAD v4
11g.2587552C=CA1948232908KCNQ1c.772-18C= (n.772-18C=)
c.589-18C= (n.589-18C=)
c.1129-18C= (n.1129-18C=)
c.748-18C= (n.748-18C=)
c.235-18C= (n.235-18C=)
11g.2587552C>TCA597111004KCNQ1c.772-18C>T (n.772-18C>T)
c.589-18C>T (n.589-18C>T)
c.1129-18C>T (n.1129-18C>T)
c.748-18C>T (n.748-18C>T)
c.235-18C>T (n.235-18C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2587553C>ACA027208KCNQ1c.772-17C>A (n.772-17C>A)
c.589-17C>A (n.589-17C>A)
c.1129-17C>A (n.1129-17C>A)
c.748-17C>A (n.748-17C>A)
c.235-17C>A (n.235-17C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587553C=CA1948232912KCNQ1c.772-17C= (n.772-17C=)
c.589-17C= (n.589-17C=)
c.1129-17C= (n.1129-17C=)
c.748-17C= (n.748-17C=)
c.235-17C= (n.235-17C=)
11g.2587553C>TCA1948232916KCNQ1c.772-17C>T (n.772-17C>T)
c.589-17C>T (n.589-17C>T)
c.1129-17C>T (n.1129-17C>T)
c.748-17C>T (n.748-17C>T)
c.235-17C>T (n.235-17C>T)
ClinVar dbSNP gnomAD v4
11g.2587554C=CA1948232921KCNQ1c.772-16C= (n.772-16C=)
c.589-16C= (n.589-16C=)
c.1129-16C= (n.1129-16C=)
c.748-16C= (n.748-16C=)
c.235-16C= (n.235-16C=)
11g.2587554C>GCA1948232922KCNQ1c.772-16C>G (n.772-16C>G)
c.589-16C>G (n.589-16C>G)
c.1129-16C>G (n.1129-16C>G)
c.748-16C>G (n.748-16C>G)
c.235-16C>G (n.235-16C>G)
dbSNP gnomAD v4
11g.2587555C=CA1948232924KCNQ1c.772-15C= (n.772-15C=)
c.589-15C= (n.589-15C=)
c.1129-15C= (n.1129-15C=)
c.748-15C= (n.748-15C=)
c.235-15C= (n.235-15C=)
11g.2587555C>GCA1948232927KCNQ1c.772-15C>G (n.772-15C>G)
c.589-15C>G (n.589-15C>G)
c.1129-15C>G (n.1129-15C>G)
c.748-15C>G (n.748-15C>G)
c.235-15C>G (n.235-15C>G)
dbSNP gnomAD v4
11g.2587555C>TCA2574728287KCNQ1c.772-15C>T (n.772-15C>T)
c.589-15C>T (n.589-15C>T)
c.1129-15C>T (n.1129-15C>T)
c.748-15C>T (n.748-15C>T)
c.235-15C>T (n.235-15C>T)
dbSNP gnomAD v4
11g.2587556C=CA1948232928KCNQ1c.772-14C= (n.772-14C=)
c.589-14C= (n.589-14C=)
c.1129-14C= (n.1129-14C=)
c.748-14C= (n.748-14C=)
c.235-14C= (n.235-14C=)
11g.2587556C>TCA934463819KCNQ1c.772-14C>T (n.772-14C>T)
c.589-14C>T (n.589-14C>T)
c.1129-14C>T (n.1129-14C>T)
c.748-14C>T (n.748-14C>T)
c.235-14C>T (n.235-14C>T)
dbSNP gnomAD v3 gnomAD v4
11g.2587557delCA2612003437KCNQ1c.772-13del (n.772-13del)
c.589-13del (n.589-13del)
c.1129-13del (n.1129-13del)
c.748-13del (n.748-13del)
c.235-13del (n.235-13del)
gnomAD v4
11g.2587558G>ACA597111006KCNQ1c.772-12G>A (n.772-12G>A)
c.589-12G>A (n.589-12G>A)
c.1129-12G>A (n.1129-12G>A)
c.748-12G>A (n.748-12G>A)
c.235-12G>A (n.235-12G>A)
dbSNP gnomAD v2 gnomAD v4
11g.2587558G>CCA216332477KCNQ1c.772-12G>C (n.772-12G>C)
c.589-12G>C (n.589-12G>C)
c.1129-12G>C (n.1129-12G>C)
c.748-12G>C (n.748-12G>C)
c.235-12G>C (n.235-12G>C)
dbSNP gnomAD v2 gnomAD v4
11g.2587558G=CA1948232933KCNQ1c.772-12G= (n.772-12G=)
c.589-12G= (n.589-12G=)
c.1129-12G= (n.1129-12G=)
c.748-12G= (n.748-12G=)
c.235-12G= (n.235-12G=)
11g.2587558G>TCA653929673KCNQ1c.772-12G>T (n.772-12G>T)
c.589-12G>T (n.589-12G>T)
c.1129-12G>T (n.1129-12G>T)
c.748-12G>T (n.748-12G>T)
c.235-12G>T (n.235-12G>T)
COSMIC
11g.2587559C>ACA2790203536KCNQ1c.772-11C>A (n.772-11C>A)
c.589-11C>A (n.589-11C>A)
c.1129-11C>A (n.1129-11C>A)
c.748-11C>A (n.748-11C>A)
c.235-11C>A (n.235-11C>A)
11g.2587559C=CA1948232936KCNQ1c.772-11C= (n.772-11C=)
c.589-11C= (n.589-11C=)
c.1129-11C= (n.1129-11C=)
c.748-11C= (n.748-11C=)
c.235-11C= (n.235-11C=)
11g.2587559C>TCA027200KCNQ1c.772-11C>T (n.772-11C>T)
c.589-11C>T (n.589-11C>T)
c.1129-11C>T (n.1129-11C>T)
c.748-11C>T (n.748-11C>T)
c.235-11C>T (n.235-11C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587560C>GCA2612003439KCNQ1c.772-10C>G (n.772-10C>G)
c.589-10C>G (n.589-10C>G)
c.1129-10C>G (n.1129-10C>G)
c.748-10C>G (n.748-10C>G)
c.235-10C>G (n.235-10C>G)
gnomAD v4
11g.2587561C=CA1948232942KCNQ1c.772-9C= (n.772-9C=)
c.589-9C= (n.589-9C=)
c.1129-9C= (n.1129-9C=)
c.748-9C= (n.748-9C=)
c.235-9C= (n.235-9C=)
11g.2587561C>TCA027332KCNQ1c.772-9C>T (n.772-9C>T)
c.589-9C>T (n.589-9C>T)
c.1129-9C>T (n.1129-9C>T)
c.748-9C>T (n.748-9C>T)
c.235-9C>T (n.235-9C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587562G>ACA027313KCNQ1c.772-8G>A (n.772-8G>A)
c.589-8G>A (n.589-8G>A)
c.1129-8G>A (n.1129-8G>A)
c.748-8G>A (n.748-8G>A)
c.235-8G>A (n.235-8G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587562G>CCA934463828KCNQ1c.772-8G>C (n.772-8G>C)
c.589-8G>C (n.589-8G>C)
c.1129-8G>C (n.1129-8G>C)
c.748-8G>C (n.748-8G>C)
c.235-8G>C (n.235-8G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2587562G=CA1948232957KCNQ1c.772-8G= (n.772-8G=)
c.589-8G= (n.589-8G=)
c.1129-8G= (n.1129-8G=)
c.748-8G= (n.748-8G=)
c.235-8G= (n.235-8G=)
11g.2587562G>TCA027324KCNQ1c.772-8G>T (n.772-8G>T)
c.589-8G>T (n.589-8G>T)
c.1129-8G>T (n.1129-8G>T)
c.748-8G>T (n.748-8G>T)
c.235-8G>T (n.235-8G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587563A=CA1948232967KCNQ1c.772-7A= (n.772-7A=)
c.589-7A= (n.589-7A=)
c.1129-7A= (n.1129-7A=)
c.748-7A= (n.748-7A=)
c.235-7A= (n.235-7A=)
11g.2587563A>CCA1948232970KCNQ1c.772-7A>C (n.772-7A>C)
c.589-7A>C (n.589-7A>C)
c.1129-7A>C (n.1129-7A>C)
c.748-7A>C (n.748-7A>C)
c.235-7A>C (n.235-7A>C)
dbSNP
11g.2587563A>GCA027302KCNQ1c.772-7A>G (n.772-7A>G)
c.589-7A>G (n.589-7A>G)
c.1129-7A>G (n.1129-7A>G)
c.748-7A>G (n.748-7A>G)
c.235-7A>G (n.235-7A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587564C>ACA2612003440KCNQ1c.772-6C>A (n.772-6C>A)
c.589-6C>A (n.589-6C>A)
c.1129-6C>A (n.1129-6C>A)
c.748-6C>A (n.748-6C>A)
c.235-6C>A (n.235-6C>A)
gnomAD v4
11g.2587565C>ACA2612003442KCNQ1c.772-5C>A (n.772-5C>A)
c.589-5C>A (n.589-5C>A)
c.1129-5C>A (n.1129-5C>A)
c.748-5C>A (n.748-5C>A)
c.235-5C>A (n.235-5C>A)
gnomAD v4
11g.2587565C>GCA2612003441KCNQ1c.772-5C>G (n.772-5C>G)
c.589-5C>G (n.589-5C>G)
c.1129-5C>G (n.1129-5C>G)
c.748-5C>G (n.748-5C>G)
c.235-5C>G (n.235-5C>G)
gnomAD v4
11g.2587566_2587592delCA2740093574KCNQ1c.772-4_794del
c.589-4_611del
c.1129-4_1151del
c.748-4_770del
c.235-4_257del
ClinVar
11g.2587567C>TCA2612003443KCNQ1c.772-3C>T (n.772-3C>T)
c.589-3C>T (n.589-3C>T)
c.1129-3C>T (n.1129-3C>T)
c.748-3C>T (n.748-3C>T)
c.235-3C>T (n.235-3C>T)
gnomAD v4
11g.2587568A=CA1948232974KCNQ1c.772-2A= (n.772-2A=)
c.589-2A= (n.589-2A=)
c.1129-2A= (n.1129-2A=)
c.748-2A= (n.748-2A=)
c.235-2A= (n.235-2A=)
11g.2587568A>CCA379134608KCNQ1c.772-2A>C (n.772-2A>C)
c.589-2A>C (n.589-2A>C)
c.1129-2A>C (n.1129-2A>C)
c.748-2A>C (n.748-2A>C)
c.235-2A>C (n.235-2A>C)
11g.2587568A>GCA027224KCNQ1c.772-2A>G (n.772-2A>G)
c.589-2A>G (n.589-2A>G)
c.1129-2A>G (n.1129-2A>G)
c.748-2A>G (n.748-2A>G)
c.235-2A>G (n.235-2A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587568A>TCA379134611KCNQ1c.772-2A>T (n.772-2A>T)
c.589-2A>T (n.589-2A>T)
c.1129-2A>T (n.1129-2A>T)
c.748-2A>T (n.748-2A>T)
c.235-2A>T (n.235-2A>T)
11g.2587569G>ACA379134613KCNQ1c.772-1G>A (n.772-1G>A)
c.589-1G>A (n.589-1G>A)
c.1129-1G>A (n.1129-1G>A)
c.748-1G>A (n.748-1G>A)
c.235-1G>A (n.235-1G>A)
11g.2587569G>CCA379134615KCNQ1c.772-1G>C (n.772-1G>C)
c.589-1G>C (n.589-1G>C)
c.1129-1G>C (n.1129-1G>C)
c.748-1G>C (n.748-1G>C)
c.235-1G>C (n.235-1G>C)
11g.2587569G>TCA379134617KCNQ1c.772-1G>T (n.772-1G>T)
c.589-1G>T (n.589-1G>T)
c.1129-1G>T (n.1129-1G>T)
c.748-1G>T (n.748-1G>T)
c.235-1G>T (n.235-1G>T)
11g.2587570A>CCA379134619KCNQ1c.772A>C (p.Thr258Pro)
c.589A>C (p.Thr197Pro)
c.1129A>C (p.Thr377Pro)
c.748A>C (p.Thr250Pro)
c.235A>C (p.Thr79Pro)
11g.2587570A>GCA379134623KCNQ1c.772A>G (p.Thr258Ala)
c.589A>G (p.Thr197Ala)
c.1129A>G (p.Thr377Ala)
c.748A>G (p.Thr250Ala)
c.235A>G (p.Thr79Ala)
11g.2587570A>TCA379134621KCNQ1c.772A>T (p.Thr258Ser)
c.589A>T (p.Thr197Ser)
c.1129A>T (p.Thr377Ser)
c.748A>T (p.Thr250Ser)
c.235A>T (p.Thr79Ser)
11g.2587571C>ACA379134627KCNQ1c.773C>A (p.Thr258Asn)
c.590C>A (p.Thr197Asn)
c.1130C>A (p.Thr377Asn)
c.749C>A (p.Thr250Asn)
c.236C>A (p.Thr79Asn)
11g.2587571C>GCA379134628KCNQ1c.773C>G (p.Thr258Ser)
c.590C>G (p.Thr197Ser)
c.1130C>G (p.Thr377Ser)
c.749C>G (p.Thr250Ser)
c.236C>G (p.Thr79Ser)
11g.2587571C>TCA379134631KCNQ1c.773C>T (p.Thr258Ile)
c.590C>T (p.Thr197Ile)
c.1130C>T (p.Thr377Ile)
c.749C>T (p.Thr250Ile)
c.236C>T (p.Thr79Ile)
11g.2587572C>ACA472039002KCNQ1c.774C>A (p.Thr258=)
c.591C>A (p.Thr197=)
c.1131C>A (p.Thr377=)
c.750C>A (p.Thr250=)
c.237C>A (p.Thr79=)
11g.2587572C=CA1948232984KCNQ1c.774C= (p.Thr258=)
c.591C= (p.Thr197=)
c.1131C= (p.Thr377=)
c.750C= (p.Thr250=)
c.237C= (p.Thr79=)
11g.2587572C>GCA472039004KCNQ1c.774C>G (p.Thr258=)
c.591C>G (p.Thr197=)
c.1131C>G (p.Thr377=)
c.750C>G (p.Thr250=)
c.237C>G (p.Thr79=)
11g.2587572C>TCA027342KCNQ1c.774C>T (p.Thr258=)
c.591C>T (p.Thr197=)
c.1131C>T (p.Thr377=)
c.750C>T (p.Thr250=)
c.237C>T (p.Thr79=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587573G>ACA027352KCNQ1c.775G>A (p.Ala259Thr)
c.592G>A (p.Ala198Thr)
c.1132G>A (p.Ala378Thr)
c.751G>A (p.Ala251Thr)
c.238G>A (p.Ala80Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2587573G>CCA379134638KCNQ1c.775G>C (p.Ala259Pro)
c.592G>C (p.Ala198Pro)
c.1132G>C (p.Ala378Pro)
c.751G>C (p.Ala251Pro)
c.238G>C (p.Ala80Pro)
ClinVar
11g.2587573G=CA1948232987KCNQ1c.775G= (p.Ala259=)
c.592G= (p.Ala198=)
c.1132G= (p.Ala378=)
c.751G= (p.Ala251=)
c.238G= (p.Ala80=)
11g.2587573G>TCA379134636KCNQ1c.775G>T (p.Ala259Ser)
c.592G>T (p.Ala198Ser)
c.1132G>T (p.Ala378Ser)
c.751G>T (p.Ala251Ser)
c.238G>T (p.Ala80Ser)
ClinVar dbSNP gnomAD v4
11g.2587574C>ACA379134640KCNQ1c.776C>A (p.Ala259Glu)
c.593C>A (p.Ala198Glu)
c.1133C>A (p.Ala378Glu)
c.752C>A (p.Ala251Glu)
c.239C>A (p.Ala80Glu)
11g.2587574C>GCA379134642KCNQ1c.776C>G (p.Ala259Gly)
c.593C>G (p.Ala198Gly)
c.1133C>G (p.Ala378Gly)
c.752C>G (p.Ala251Gly)
c.239C>G (p.Ala80Gly)
11g.2587574C>TCA379134644KCNQ1c.776C>T (p.Ala259Val)
c.593C>T (p.Ala198Val)
c.1133C>T (p.Ala378Val)
c.752C>T (p.Ala251Val)
c.239C>T (p.Ala80Val)
11g.2587575A>CCA472039010KCNQ1c.777A>C (p.Ala259=)
c.594A>C (p.Ala198=)
c.1134A>C (p.Ala378=)
c.753A>C (p.Ala251=)
c.240A>C (p.Ala80=)
11g.2587575A>GCA472039011KCNQ1c.777A>G (p.Ala259=)
c.594A>G (p.Ala198=)
c.1134A>G (p.Ala378=)
c.753A>G (p.Ala251=)
c.240A>G (p.Ala80=)
ClinVar gnomAD v4
11g.2587575A>TCA472039012KCNQ1c.777A>T (p.Ala259=)
c.594A>T (p.Ala198=)
c.1134A>T (p.Ala378=)
c.753A>T (p.Ala251=)
c.240A>T (p.Ala80=)
ClinVar dbSNP
11g.2587576T>ACA379134646KCNQ1c.778T>A (p.Trp260Arg)
c.595T>A (p.Trp199Arg)
c.1135T>A (p.Trp379Arg)
c.754T>A (p.Trp252Arg)
c.241T>A (p.Trp81Arg)
11g.2587576T>CCA005370KCNQ1c.778T>C (p.Trp260Arg)
c.595T>C (p.Trp199Arg)
c.1135T>C (p.Trp379Arg)
c.754T>C (p.Trp252Arg)
c.241T>C (p.Trp81Arg)
ClinVar dbSNP
11g.2587576T>GCA005377KCNQ1c.778T>G (p.Trp260Gly)
c.595T>G (p.Trp199Gly)
c.1135T>G (p.Trp379Gly)
c.754T>G (p.Trp252Gly)
c.241T>G (p.Trp81Gly)
ClinVar dbSNP
11g.2587576T=CA1948232996KCNQ1c.778T= (p.Trp260=)
c.595T= (p.Trp199=)
c.1135T= (p.Trp379=)
c.754T= (p.Trp252=)
c.241T= (p.Trp81=)
11g.2587577G>ACA379134650KCNQ1c.779G>A (p.Trp260Ter)
c.596G>A (p.Trp199Ter)
c.1136G>A (p.Trp379Ter)
c.755G>A (p.Trp252Ter)
c.242G>A (p.Trp81Ter)
COSMIC COSMIC
11g.2587577G>CCA005382KCNQ1c.779G>C (p.Trp260Ser)
c.596G>C (p.Trp199Ser)
c.1136G>C (p.Trp379Ser)
c.755G>C (p.Trp252Ser)
c.242G>C (p.Trp81Ser)
ClinVar dbSNP
11g.2587577G=CA1948233005KCNQ1c.779G= (p.Trp260=)
c.596G= (p.Trp199=)
c.1136G= (p.Trp379=)
c.755G= (p.Trp252=)
c.242G= (p.Trp81=)
11g.2587577G>TCA379134652KCNQ1c.779G>T (p.Trp260Leu)
c.596G>T (p.Trp199Leu)
c.1136G>T (p.Trp379Leu)
c.755G>T (p.Trp252Leu)
c.242G>T (p.Trp81Leu)
11g.2587578G>ACA216332635KCNQ1c.780G>A (p.Trp260Ter)
c.597G>A (p.Trp199Ter)
c.1137G>A (p.Trp379Ter)
c.756G>A (p.Trp252Ter)
c.243G>A (p.Trp81Ter)
dbSNP gnomAD v4
11g.2587578G>CCA379134653KCNQ1c.780G>C (p.Trp260Cys)
c.597G>C (p.Trp199Cys)
c.1137G>C (p.Trp379Cys)
c.756G>C (p.Trp252Cys)
c.243G>C (p.Trp81Cys)
11g.2587578G=CA1948233011KCNQ1c.780G= (p.Trp260=)
c.597G= (p.Trp199=)
c.1137G= (p.Trp379=)
c.756G= (p.Trp252=)
c.243G= (p.Trp81=)
11g.2587578G>TCA379134654KCNQ1c.780G>T (p.Trp260Cys)
c.597G>T (p.Trp199Cys)
c.1137G>T (p.Trp379Cys)
c.756G>T (p.Trp252Cys)
c.243G>T (p.Trp81Cys)
11g.2587579A=CA1948233022KCNQ1c.781A= (p.Arg261=)
c.598A= (p.Arg200=)
c.1138A= (p.Arg380=)
c.757A= (p.Arg253=)
c.244A= (p.Arg82=)
11g.2587579A>CCA472039021KCNQ1c.781A>C (p.Arg261=)
c.598A>C (p.Arg200=)
c.1138A>C (p.Arg380=)
c.757A>C (p.Arg253=)
c.244A>C (p.Arg82=)
11g.2587579A>GCA005387KCNQ1c.781A>G (p.Arg261Gly)
c.598A>G (p.Arg200Gly)
c.1138A>G (p.Arg380Gly)
c.757A>G (p.Arg253Gly)
c.244A>G (p.Arg82Gly)
ClinVar dbSNP
11g.2587579A>TCA379134655KCNQ1c.781A>T (p.Arg261Trp)
c.598A>T (p.Arg200Trp)
c.1138A>T (p.Arg380Trp)
c.757A>T (p.Arg253Trp)
c.244A>T (p.Arg82Trp)
ClinVar dbSNP
11g.2587580G>ACA379134656KCNQ1c.782G>A (p.Arg261Lys)
c.599G>A (p.Arg200Lys)
c.1139G>A (p.Arg380Lys)
c.758G>A (p.Arg253Lys)
c.245G>A (p.Arg82Lys)
ClinVar dbSNP
11g.2587580G>CCA379134657KCNQ1c.782G>C (p.Arg261Thr)
c.599G>C (p.Arg200Thr)
c.1139G>C (p.Arg380Thr)
c.758G>C (p.Arg253Thr)
c.245G>C (p.Arg82Thr)
11g.2587580G=CA1948233033KCNQ1c.782G= (p.Arg261=)
c.599G= (p.Arg200=)
c.1139G= (p.Arg380=)
c.758G= (p.Arg253=)
c.245G= (p.Arg82=)
11g.2587580G>TCA379134658KCNQ1c.782G>T (p.Arg261Met)
c.599G>T (p.Arg200Met)
c.1139G>T (p.Arg380Met)
c.758G>T (p.Arg253Met)
c.245G>T (p.Arg82Met)
11g.2587581G>ACA10587113KCNQ1c.783G>A (p.Arg261=)
c.600G>A (p.Arg200=)
c.1140G>A (p.Arg380=)
c.759G>A (p.Arg253=)
c.246G>A (p.Arg82=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2587581G>CCA379134659KCNQ1c.783G>C (p.Arg261Ser)
c.600G>C (p.Arg200Ser)
c.1140G>C (p.Arg380Ser)
c.759G>C (p.Arg253Ser)
c.246G>C (p.Arg82Ser)
11g.2587581G=CA1948233040KCNQ1c.783G= (p.Arg261=)
c.600G= (p.Arg200=)
c.1140G= (p.Arg380=)
c.759G= (p.Arg253=)
c.246G= (p.Arg82=)
11g.2587581G>TCA005394KCNQ1c.783G>T (p.Arg261Ser)
c.600G>T (p.Arg200Ser)
c.1140G>T (p.Arg380Ser)
c.759G>T (p.Arg253Ser)
c.246G>T (p.Arg82Ser)
ClinVar dbSNP
11g.2587582T>ACA379134662KCNQ1c.784T>A (p.Cys262Ser)
c.601T>A (p.Cys201Ser)
c.1141T>A (p.Cys381Ser)
c.760T>A (p.Cys254Ser)
c.247T>A (p.Cys83Ser)
11g.2587582T>CCA379134660KCNQ1c.784T>C (p.Cys262Arg)
c.601T>C (p.Cys201Arg)
c.1141T>C (p.Cys381Arg)
c.760T>C (p.Cys254Arg)
c.247T>C (p.Cys83Arg)
11g.2587582T>GCA379134661KCNQ1c.784T>G (p.Cys262Gly)
c.601T>G (p.Cys201Gly)
c.1141T>G (p.Cys381Gly)
c.760T>G (p.Cys254Gly)
c.247T>G (p.Cys83Gly)
11g.2587583G>ACA005402KCNQ1c.785G>A (p.Cys262Tyr)
c.602G>A (p.Cys201Tyr)
c.1142G>A (p.Cys381Tyr)
c.761G>A (p.Cys254Tyr)
c.248G>A (p.Cys83Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587583G>CCA379134663KCNQ1c.785G>C (p.Cys262Ser)
c.602G>C (p.Cys201Ser)
c.1142G>C (p.Cys381Ser)
c.761G>C (p.Cys254Ser)
c.248G>C (p.Cys83Ser)
11g.2587583G=CA1948233052KCNQ1c.785G= (p.Cys262=)
c.602G= (p.Cys201=)
c.1142G= (p.Cys381=)
c.761G= (p.Cys254=)
c.248G= (p.Cys83=)
11g.2587583G>TCA379134664KCNQ1c.785G>T (p.Cys262Phe)
c.602G>T (p.Cys201Phe)
c.1142G>T (p.Cys381Phe)
c.761G>T (p.Cys254Phe)
c.248G>T (p.Cys83Phe)
gnomAD v4
11g.2587584C>ACA379134665KCNQ1c.786C>A (p.Cys262Ter)
c.603C>A (p.Cys201Ter)
c.1143C>A (p.Cys381Ter)
c.762C>A (p.Cys254Ter)
c.249C>A (p.Cys83Ter)
11g.2587584C=CA1948233059KCNQ1c.786C= (p.Cys262=)
c.603C= (p.Cys201=)
c.1143C= (p.Cys381=)
c.762C= (p.Cys254=)
c.249C= (p.Cys83=)
11g.2587584C>GCA379134666KCNQ1c.786C>G (p.Cys262Trp)
c.603C>G (p.Cys201Trp)
c.1143C>G (p.Cys381Trp)
c.762C>G (p.Cys254Trp)
c.249C>G (p.Cys83Trp)
ClinVar dbSNP gnomAD v4
11g.2587584C>TCA472039031KCNQ1c.786C>T (p.Cys262=)
c.603C>T (p.Cys201=)
c.1143C>T (p.Cys381=)
c.762C>T (p.Cys254=)
c.249C>T (p.Cys83=)
11g.2587585T>ACA379134667KCNQ1c.787T>A (p.Tyr263Asn)
c.604T>A (p.Tyr202Asn)
c.1144T>A (p.Tyr382Asn)
c.763T>A (p.Tyr255Asn)
c.250T>A (p.Tyr84Asn)
11g.2587585T>CCA379134669KCNQ1c.787T>C (p.Tyr263His)
c.604T>C (p.Tyr202His)
c.1144T>C (p.Tyr382His)
c.763T>C (p.Tyr255His)
c.250T>C (p.Tyr84His)
gnomAD v4
11g.2587585T>GCA379134668KCNQ1c.787T>G (p.Tyr263Asp)
c.604T>G (p.Tyr202Asp)
c.1144T>G (p.Tyr382Asp)
c.763T>G (p.Tyr255Asp)
c.250T>G (p.Tyr84Asp)
11g.2587586A>CCA379134670KCNQ1c.788A>C (p.Tyr263Ser)
c.605A>C (p.Tyr202Ser)
c.1145A>C (p.Tyr382Ser)
c.764A>C (p.Tyr255Ser)
c.251A>C (p.Tyr84Ser)
11g.2587586A>GCA379134671KCNQ1c.788A>G (p.Tyr263Cys)
c.605A>G (p.Tyr202Cys)
c.1145A>G (p.Tyr382Cys)
c.764A>G (p.Tyr255Cys)
c.251A>G (p.Tyr84Cys)
ClinVar
11g.2587586A>TCA379134672KCNQ1c.788A>T (p.Tyr263Phe)
c.605A>T (p.Tyr202Phe)
c.1145A>T (p.Tyr382Phe)
c.764A>T (p.Tyr255Phe)
c.251A>T (p.Tyr84Phe)
11g.2587587T>ACA379134673KCNQ1c.789T>A (p.Tyr263Ter)
c.606T>A (p.Tyr202Ter)
c.1146T>A (p.Tyr382Ter)
c.765T>A (p.Tyr255Ter)
c.252T>A (p.Tyr84Ter)
11g.2587587T>CCA472039037KCNQ1c.789T>C (p.Tyr263=)
c.606T>C (p.Tyr202=)
c.1146T>C (p.Tyr382=)
c.765T>C (p.Tyr255=)
c.252T>C (p.Tyr84=)
ClinVar dbSNP gnomAD v4
11g.2587587T>GCA379134674KCNQ1c.789T>G (p.Tyr263Ter)
c.606T>G (p.Tyr202Ter)
c.1146T>G (p.Tyr382Ter)
c.765T>G (p.Tyr255Ter)
c.252T>G (p.Tyr84Ter)
11g.2587588G>ACA379134675KCNQ1c.790G>A (p.Ala264Thr)
c.607G>A (p.Ala203Thr)
c.1147G>A (p.Ala383Thr)
c.766G>A (p.Ala256Thr)
c.253G>A (p.Ala85Thr)
11g.2587588G>CCA379134676KCNQ1c.790G>C (p.Ala264Pro)
c.607G>C (p.Ala203Pro)
c.1147G>C (p.Ala383Pro)
c.766G>C (p.Ala256Pro)
c.253G>C (p.Ala85Pro)
11g.2587588G>TCA379134677KCNQ1c.790G>T (p.Ala264Ser)
c.607G>T (p.Ala203Ser)
c.1147G>T (p.Ala383Ser)
c.766G>T (p.Ala256Ser)
c.253G>T (p.Ala85Ser)
11g.2587589C>ACA379134678KCNQ1c.791C>A (p.Ala264Asp)
c.608C>A (p.Ala203Asp)
c.1148C>A (p.Ala383Asp)
c.767C>A (p.Ala256Asp)
c.254C>A (p.Ala85Asp)
11g.2587589C=CA1948233067KCNQ1c.791C= (p.Ala264=)
c.608C= (p.Ala203=)
c.1148C= (p.Ala383=)
c.767C= (p.Ala256=)
c.254C= (p.Ala85=)
11g.2587589C>GCA379134679KCNQ1c.791C>G (p.Ala264Gly)
c.608C>G (p.Ala203Gly)
c.1148C>G (p.Ala383Gly)
c.767C>G (p.Ala256Gly)
c.254C>G (p.Ala85Gly)
11g.2587589C>TCA379134680KCNQ1c.791C>T (p.Ala264Val)
c.608C>T (p.Ala203Val)
c.1148C>T (p.Ala383Val)
c.767C>T (p.Ala256Val)
c.254C>T (p.Ala85Val)
11g.2587589dupCA2573146068KCNQ1c.791dup (p.Ala265CysfsTer?)
c.608dup (p.Ala204CysfsTer?)
c.1148dup (p.Ala384CysfsTer?)
c.767dup (p.Ala257CysfsTer?)
c.254dup (p.Ala86CysfsTer?)
ClinVar dbSNP
11g.2587590T>ACA472039044KCNQ1c.792T>A (p.Ala264=)
c.609T>A (p.Ala203=)
c.1149T>A (p.Ala383=)
c.768T>A (p.Ala256=)
c.255T>A (p.Ala85=)
11g.2587590T>CCA472039046KCNQ1c.792T>C (p.Ala264=)
c.609T>C (p.Ala203=)
c.1149T>C (p.Ala383=)
c.768T>C (p.Ala256=)
c.255T>C (p.Ala85=)
11g.2587590T>GCA472039047KCNQ1c.792T>G (p.Ala264=)
c.609T>G (p.Ala203=)
c.1149T>G (p.Ala383=)
c.768T>G (p.Ala256=)
c.255T>G (p.Ala85=)
11g.2587590dupCA005409KCNQ1c.792dup (p.Ala265CysfsTer?)
c.609dup (p.Ala204CysfsTer?)
c.1149dup (p.Ala384CysfsTer?)
c.768dup (p.Ala257CysfsTer?)
c.255dup (p.Ala86CysfsTer?)
ClinVar dbSNP
11g.2587591G>ACA379134681KCNQ1c.793G>A (p.Ala265Thr)
c.610G>A (p.Ala204Thr)
c.1150G>A (p.Ala384Thr)
c.769G>A (p.Ala257Thr)
c.256G>A (p.Ala86Thr)
ClinVar dbSNP
11g.2587591G>CCA379134683KCNQ1c.793G>C (p.Ala265Pro)
c.610G>C (p.Ala204Pro)
c.1150G>C (p.Ala384Pro)
c.769G>C (p.Ala257Pro)
c.256G>C (p.Ala86Pro)
11g.2587591G=CA1948233079KCNQ1c.793G= (p.Ala265=)
c.610G= (p.Ala204=)
c.1150G= (p.Ala384=)
c.769G= (p.Ala257=)
c.256G= (p.Ala86=)
11g.2587591G>TCA379134682KCNQ1c.793G>T (p.Ala265Ser)
c.610G>T (p.Ala204Ser)
c.1150G>T (p.Ala384Ser)
c.769G>T (p.Ala257Ser)
c.256G>T (p.Ala86Ser)
11g.2587592C>ACA379134684KCNQ1c.794C>A (p.Ala265Asp)
c.611C>A (p.Ala204Asp)
c.1151C>A (p.Ala384Asp)
c.770C>A (p.Ala257Asp)
c.257C>A (p.Ala86Asp)
11g.2587592C>GCA379134686KCNQ1c.794C>G (p.Ala265Gly)
c.611C>G (p.Ala204Gly)
c.1151C>G (p.Ala384Gly)
c.770C>G (p.Ala257Gly)
c.257C>G (p.Ala86Gly)
11g.2587592C>TCA379134685KCNQ1c.794C>T (p.Ala265Val)
c.611C>T (p.Ala204Val)
c.1151C>T (p.Ala384Val)
c.770C>T (p.Ala257Val)
c.257C>T (p.Ala86Val)
COSMIC COSMIC
11g.2587593C>ACA472039055KCNQ1c.795C>A (p.Ala265=)
c.612C>A (p.Ala204=)
c.1152C>A (p.Ala384=)
c.771C>A (p.Ala257=)
c.258C>A (p.Ala86=)
11g.2587593C=CA1948233090KCNQ1c.795C= (p.Ala265=)
c.612C= (p.Ala204=)
c.1152C= (p.Ala384=)
c.771C= (p.Ala257=)
c.258C= (p.Ala86=)
11g.2587593C>GCA472039057KCNQ1c.795C>G (p.Ala265=)
c.612C>G (p.Ala204=)
c.1152C>G (p.Ala384=)
c.771C>G (p.Ala257=)
c.258C>G (p.Ala86=)
11g.2587593C>TCA027413KCNQ1c.795C>T (p.Ala265=)
c.612C>T (p.Ala204=)
c.1152C>T (p.Ala384=)
c.771C>T (p.Ala257=)
c.258C>T (p.Ala86=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587594G>ACA005418KCNQ1c.796G>A (p.Glu266Lys)
c.613G>A (p.Glu205Lys)
c.1153G>A (p.Glu385Lys)
c.772G>A (p.Glu258Lys)
c.259G>A (p.Glu87Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587594G>CCA379134687KCNQ1c.796G>C (p.Glu266Gln)
c.613G>C (p.Glu205Gln)
c.1153G>C (p.Glu385Gln)
c.772G>C (p.Glu258Gln)
c.259G>C (p.Glu87Gln)
ClinVar dbSNP gnomAD v4
11g.2587594G=CA1948233094KCNQ1c.796G= (p.Glu266=)
c.613G= (p.Glu205=)
c.1153G= (p.Glu385=)
c.772G= (p.Glu258=)
c.259G= (p.Glu87=)
11g.2587594G>TCA379134688KCNQ1c.796G>T (p.Glu266Ter)
c.613G>T (p.Glu205Ter)
c.1153G>T (p.Glu385Ter)
c.772G>T (p.Glu258Ter)
c.259G>T (p.Glu87Ter)
11g.2587595A>CCA379134689KCNQ1c.797A>C (p.Glu266Ala)
c.614A>C (p.Glu205Ala)
c.1154A>C (p.Glu385Ala)
c.773A>C (p.Glu258Ala)
c.260A>C (p.Glu87Ala)
11g.2587595A>GCA379134690KCNQ1c.797A>G (p.Glu266Gly)
c.614A>G (p.Glu205Gly)
c.1154A>G (p.Glu385Gly)
c.773A>G (p.Glu258Gly)
c.260A>G (p.Glu87Gly)
11g.2587595A>TCA379134691KCNQ1c.797A>T (p.Glu266Val)
c.614A>T (p.Glu205Val)
c.1154A>T (p.Glu385Val)
c.773A>T (p.Glu258Val)
c.260A>T (p.Glu87Val)
11g.2587596G>ACA472039062KCNQ1c.798G>A (p.Glu266=)
c.615G>A (p.Glu205=)
c.1155G>A (p.Glu385=)
c.774G>A (p.Glu258=)
c.261G>A (p.Glu87=)
11g.2587596G>CCA379134692KCNQ1c.798G>C (p.Glu266Asp)
c.615G>C (p.Glu205Asp)
c.1155G>C (p.Glu385Asp)
c.774G>C (p.Glu258Asp)
c.261G>C (p.Glu87Asp)
11g.2587596G>TCA379134693KCNQ1c.798G>T (p.Glu266Asp)
c.615G>T (p.Glu205Asp)
c.1155G>T (p.Glu385Asp)
c.774G>T (p.Glu258Asp)
c.261G>T (p.Glu87Asp)
11g.2587597A>CCA379134694KCNQ1c.799A>C (p.Asn267His)
c.616A>C (p.Asn206His)
c.1156A>C (p.Asn386His)
c.775A>C (p.Asn259His)
c.262A>C (p.Asn88His)
11g.2587597A>GCA379134695KCNQ1c.799A>G (p.Asn267Asp)
c.616A>G (p.Asn206Asp)
c.1156A>G (p.Asn386Asp)
c.775A>G (p.Asn259Asp)
c.262A>G (p.Asn88Asp)
11g.2587597A>TCA379134696KCNQ1c.799A>T (p.Asn267Tyr)
c.616A>T (p.Asn206Tyr)
c.1156A>T (p.Asn386Tyr)
c.775A>T (p.Asn259Tyr)
c.262A>T (p.Asn88Tyr)
11g.2587598A>CCA379134697KCNQ1c.800A>C (p.Asn267Thr)
c.617A>C (p.Asn206Thr)
c.1157A>C (p.Asn386Thr)
c.776A>C (p.Asn259Thr)
c.263A>C (p.Asn88Thr)
11g.2587598A>GCA379134698KCNQ1c.800A>G (p.Asn267Ser)
c.617A>G (p.Asn206Ser)
c.1157A>G (p.Asn386Ser)
c.776A>G (p.Asn259Ser)
c.263A>G (p.Asn88Ser)
11g.2587598A>TCA379134699KCNQ1c.800A>T (p.Asn267Ile)
c.617A>T (p.Asn206Ile)
c.1157A>T (p.Asn386Ile)
c.776A>T (p.Asn259Ile)
c.263A>T (p.Asn88Ile)
11g.2587599C>ACA027462KCNQ1c.801C>A (p.Asn267Lys)
c.618C>A (p.Asn206Lys)
c.1158C>A (p.Asn386Lys)
c.777C>A (p.Asn259Lys)
c.264C>A (p.Asn88Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587599C=CA1948233102KCNQ1c.801C= (p.Asn267=)
c.618C= (p.Asn206=)
c.1158C= (p.Asn386=)
c.777C= (p.Asn259=)
c.264C= (p.Asn88=)
11g.2587599C>GCA379134700KCNQ1c.801C>G (p.Asn267Lys)
c.618C>G (p.Asn206Lys)
c.1158C>G (p.Asn386Lys)
c.777C>G (p.Asn259Lys)
c.264C>G (p.Asn88Lys)
11g.2587599C>TCA027476KCNQ1c.801C>T (p.Asn267=)
c.618C>T (p.Asn206=)
c.1158C>T (p.Asn386=)
c.777C>T (p.Asn259=)
c.264C>T (p.Asn88=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587600C>ACA379134701KCNQ1c.802C>A (p.Pro268Thr)
c.619C>A (p.Pro207Thr)
c.1159C>A (p.Pro387Thr)
c.778C>A (p.Pro260Thr)
c.265C>A (p.Pro89Thr)
dbSNP gnomAD v2 gnomAD v4
11g.2587600C=CA1948233112KCNQ1c.802C= (p.Pro268=)
c.619C= (p.Pro207=)
c.1159C= (p.Pro387=)
c.778C= (p.Pro260=)
c.265C= (p.Pro89=)
11g.2587600C>GCA379134702KCNQ1c.802C>G (p.Pro268Ala)
c.619C>G (p.Pro207Ala)
c.1159C>G (p.Pro387Ala)
c.778C>G (p.Pro260Ala)
c.265C>G (p.Pro89Ala)
11g.2587600C>TCA379134703KCNQ1c.802C>T (p.Pro268Ser)
c.619C>T (p.Pro207Ser)
c.1159C>T (p.Pro387Ser)
c.778C>T (p.Pro260Ser)
c.265C>T (p.Pro89Ser)
ClinVar
11g.2587601C>ACA379134704KCNQ1c.803C>A (p.Pro268His)
c.620C>A (p.Pro207His)
c.1160C>A (p.Pro387His)
c.779C>A (p.Pro260His)
c.266C>A (p.Pro89His)
11g.2587601C=CA1948233120KCNQ1c.803C= (p.Pro268=)
c.620C= (p.Pro207=)
c.1160C= (p.Pro387=)
c.779C= (p.Pro260=)
c.266C= (p.Pro89=)
11g.2587601C>GCA379134705KCNQ1c.803C>G (p.Pro268Arg)
c.620C>G (p.Pro207Arg)
c.1160C>G (p.Pro387Arg)
c.779C>G (p.Pro260Arg)
c.266C>G (p.Pro89Arg)
11g.2587601C>TCA379134706KCNQ1c.803C>T (p.Pro268Leu)
c.620C>T (p.Pro207Leu)
c.1160C>T (p.Pro387Leu)
c.779C>T (p.Pro260Leu)
c.266C>T (p.Pro89Leu)
dbSNP gnomAD v3 gnomAD v4
11g.2587602C>ACA472039074KCNQ1c.804C>A (p.Pro268=)
c.621C>A (p.Pro207=)
c.1161C>A (p.Pro387=)
c.780C>A (p.Pro260=)
c.267C>A (p.Pro89=)
11g.2587602C=CA1948233128KCNQ1c.804C= (p.Pro268=)
c.621C= (p.Pro207=)
c.1161C= (p.Pro387=)
c.780C= (p.Pro260=)
c.267C= (p.Pro89=)
11g.2587602C>GCA472039075KCNQ1c.804C>G (p.Pro268=)
c.621C>G (p.Pro207=)
c.1161C>G (p.Pro387=)
c.780C>G (p.Pro260=)
c.267C>G (p.Pro89=)
11g.2587602C>TCA027492KCNQ1c.804C>T (p.Pro268=)
c.621C>T (p.Pro207=)
c.1161C>T (p.Pro387=)
c.780C>T (p.Pro260=)
c.267C>T (p.Pro89=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587603G>ACA027506KCNQ1c.805G>A (p.Asp269Asn)
c.622G>A (p.Asp208Asn)
c.1162G>A (p.Asp388Asn)
c.781G>A (p.Asp261Asn)
c.268G>A (p.Asp90Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587603G>CCA027518KCNQ1c.805G>C (p.Asp269His)
c.622G>C (p.Asp208His)
c.1162G>C (p.Asp388His)
c.781G>C (p.Asp261His)
c.268G>C (p.Asp90His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587603G=CA1948233142KCNQ1c.805G= (p.Asp269=)
c.622G= (p.Asp208=)
c.1162G= (p.Asp388=)
c.781G= (p.Asp261=)
c.268G= (p.Asp90=)
11g.2587603G>TCA379134707KCNQ1c.805G>T (p.Asp269Tyr)
c.622G>T (p.Asp208Tyr)
c.1162G>T (p.Asp388Tyr)
c.781G>T (p.Asp261Tyr)
c.268G>T (p.Asp90Tyr)
11g.2587604A=CA1948233150KCNQ1c.806A= (p.Asp269=)
c.623A= (p.Asp208=)
c.1163A= (p.Asp388=)
c.782A= (p.Asp261=)
c.269A= (p.Asp90=)
11g.2587604A>CCA379134710KCNQ1c.806A>C (p.Asp269Ala)
c.623A>C (p.Asp208Ala)
c.1163A>C (p.Asp388Ala)
c.782A>C (p.Asp261Ala)
c.269A>C (p.Asp90Ala)
11g.2587604A>GCA379134709KCNQ1c.806A>G (p.Asp269Gly)
c.623A>G (p.Asp208Gly)
c.1163A>G (p.Asp388Gly)
c.782A>G (p.Asp261Gly)
c.269A>G (p.Asp90Gly)
gnomAD v4
11g.2587604A>TCA379134708KCNQ1c.806A>T (p.Asp269Val)
c.623A>T (p.Asp208Val)
c.1163A>T (p.Asp388Val)
c.782A>T (p.Asp261Val)
c.269A>T (p.Asp90Val)
dbSNP gnomAD v3 gnomAD v4
11g.2587605C>ACA379134711KCNQ1c.807C>A (p.Asp269Glu)
c.624C>A (p.Asp208Glu)
c.1164C>A (p.Asp388Glu)
c.783C>A (p.Asp261Glu)
c.270C>A (p.Asp90Glu)
11g.2587605C=CA1948233160KCNQ1c.807C= (p.Asp269=)
c.624C= (p.Asp208=)
c.1164C= (p.Asp388=)
c.783C= (p.Asp261=)
c.270C= (p.Asp90=)
11g.2587605C>GCA379134712KCNQ1c.807C>G (p.Asp269Glu)
c.624C>G (p.Asp208Glu)
c.1164C>G (p.Asp388Glu)
c.783C>G (p.Asp261Glu)
c.270C>G (p.Asp90Glu)
11g.2587605C>TCA216332699KCNQ1c.807C>T (p.Asp269=)
c.624C>T (p.Asp208=)
c.1164C>T (p.Asp388=)
c.783C>T (p.Asp261=)
c.270C>T (p.Asp90=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587609_2587611dupCA16619311KCNQ1c.811_813dup (p.Ser271_Thr272insSer)
c.628_630dup (p.Ser210_Thr211insSer)
c.1168_1170dup (p.Ser390_Thr391insSer)
c.787_789dup (p.Ser263_Thr264insSer)
c.274_276dup (p.Ser92_Thr93insSer)
ClinVar dbSNP
11g.2587606T>ACA379134713KCNQ1c.808T>A (p.Ser270Thr)
c.625T>A (p.Ser209Thr)
c.1165T>A (p.Ser389Thr)
c.784T>A (p.Ser262Thr)
c.271T>A (p.Ser91Thr)
11g.2587606T>CCA005423KCNQ1c.808T>C (p.Ser270Pro)
c.625T>C (p.Ser209Pro)
c.1165T>C (p.Ser389Pro)
c.784T>C (p.Ser262Pro)
c.271T>C (p.Ser91Pro)
ClinVar dbSNP
11g.2587606T>GCA379134714KCNQ1c.808T>G (p.Ser270Ala)
c.625T>G (p.Ser209Ala)
c.1165T>G (p.Ser389Ala)
c.784T>G (p.Ser262Ala)
c.271T>G (p.Ser91Ala)
ClinVar dbSNP
11g.2587606T=CA1948233175KCNQ1c.808T= (p.Ser270=)
c.625T= (p.Ser209=)
c.1165T= (p.Ser389=)
c.784T= (p.Ser262=)
c.271T= (p.Ser91=)
11g.2587606_2587607delinsGACA658797568KCNQ1c.808_809delinsGA (p.Ser270Asp)
c.625_626delinsGA (p.Ser209Asp)
c.1165_1166delinsGA (p.Ser389Asp)
c.784_785delinsGA (p.Ser262Asp)
c.271_272delinsGA (p.Ser91Asp)
ClinVar
11g.2587607C>ACA005431KCNQ1c.809C>A (p.Ser270Tyr)
c.626C>A (p.Ser209Tyr)
c.1166C>A (p.Ser389Tyr)
c.785C>A (p.Ser262Tyr)
c.272C>A (p.Ser91Tyr)
ClinVar dbSNP
11g.2587607C=CA1948233188KCNQ1c.809C= (p.Ser270=)
c.626C= (p.Ser209=)
c.1166C= (p.Ser389=)
c.785C= (p.Ser262=)
c.272C= (p.Ser91=)
11g.2587607C>GCA379134715KCNQ1c.809C>G (p.Ser270Cys)
c.626C>G (p.Ser209Cys)
c.1166C>G (p.Ser389Cys)
c.785C>G (p.Ser262Cys)
c.272C>G (p.Ser91Cys)
11g.2587607C>TCA379134716KCNQ1c.809C>T (p.Ser270Phe)
c.626C>T (p.Ser209Phe)
c.1166C>T (p.Ser389Phe)
c.785C>T (p.Ser262Phe)
c.272C>T (p.Ser91Phe)
ClinVar COSMIC COSMIC
11g.2587608C>ACA472039088KCNQ1c.810C>A (p.Ser270=)
c.627C>A (p.Ser209=)
c.1167C>A (p.Ser389=)
c.786C>A (p.Ser262=)
c.273C>A (p.Ser91=)
11g.2587608C=CA1948233194KCNQ1c.810C= (p.Ser270=)
c.627C= (p.Ser209=)
c.1167C= (p.Ser389=)
c.786C= (p.Ser262=)
c.273C= (p.Ser91=)
11g.2587608C>GCA472039090KCNQ1c.810C>G (p.Ser270=)
c.627C>G (p.Ser209=)
c.1167C>G (p.Ser389=)
c.786C>G (p.Ser262=)
c.273C>G (p.Ser91=)
dbSNP gnomAD v3 gnomAD v4
11g.2587608C>TCA472039089KCNQ1c.810C>T (p.Ser270=)
c.627C>T (p.Ser209=)
c.1167C>T (p.Ser389=)
c.786C>T (p.Ser262=)
c.273C>T (p.Ser91=)
dbSNP gnomAD v2 gnomAD v4
11g.2587609T>ACA379134717KCNQ1c.811T>A (p.Ser271Thr)
c.628T>A (p.Ser210Thr)
c.1168T>A (p.Ser390Thr)
c.787T>A (p.Ser263Thr)
c.274T>A (p.Ser92Thr)
11g.2587609T>CCA379134718KCNQ1c.811T>C (p.Ser271Pro)
c.628T>C (p.Ser210Pro)
c.1168T>C (p.Ser390Pro)
c.787T>C (p.Ser263Pro)
c.274T>C (p.Ser92Pro)
11g.2587609T>GCA379134719KCNQ1c.811T>G (p.Ser271Ala)
c.628T>G (p.Ser210Ala)
c.1168T>G (p.Ser390Ala)
c.787T>G (p.Ser263Ala)
c.274T>G (p.Ser92Ala)
11g.2587610C>ACA379134722KCNQ1c.812C>A (p.Ser271Tyr)
c.629C>A (p.Ser210Tyr)
c.1169C>A (p.Ser390Tyr)
c.788C>A (p.Ser263Tyr)
c.275C>A (p.Ser92Tyr)
11g.2587610C=CA1948233196KCNQ1c.812C= (p.Ser271=)
c.629C= (p.Ser210=)
c.1169C= (p.Ser390=)
c.788C= (p.Ser263=)
c.275C= (p.Ser92=)
11g.2587610C>GCA379134720KCNQ1c.812C>G (p.Ser271Cys)
c.629C>G (p.Ser210Cys)
c.1169C>G (p.Ser390Cys)
c.788C>G (p.Ser263Cys)
c.275C>G (p.Ser92Cys)
dbSNP
11g.2587610C>TCA379134721KCNQ1c.812C>T (p.Ser271Phe)
c.629C>T (p.Ser210Phe)
c.1169C>T (p.Ser390Phe)
c.788C>T (p.Ser263Phe)
c.275C>T (p.Ser92Phe)
gnomAD v4
11g.2587612_2587614dupCA658761337KCNQ1c.814_816dup (p.Thr272_Trp273insThr)
c.631_633dup (p.Thr211_Trp212insThr)
c.1171_1173dup (p.Thr391_Trp392insThr)
c.790_792dup (p.Thr264_Trp265insThr)
c.277_279dup (p.Thr93_Trp94insThr)
11g.2587611C>ACA472039099KCNQ1c.813C>A (p.Ser271=)
c.630C>A (p.Ser210=)
c.1170C>A (p.Ser390=)
c.789C>A (p.Ser263=)
c.276C>A (p.Ser92=)
11g.2587611C>GCA472039096KCNQ1c.813C>G (p.Ser271=)
c.630C>G (p.Ser210=)
c.1170C>G (p.Ser390=)
c.789C>G (p.Ser263=)
c.276C>G (p.Ser92=)
11g.2587611C>TCA472039098KCNQ1c.813C>T (p.Ser271=)
c.630C>T (p.Ser210=)
c.1170C>T (p.Ser390=)
c.789C>T (p.Ser263=)
c.276C>T (p.Ser92=)
gnomAD v4
11g.2587612A=CA1948233203KCNQ1c.814A= (p.Thr272=)
c.631A= (p.Thr211=)
c.1171A= (p.Thr391=)
c.790A= (p.Thr264=)
c.277A= (p.Thr93=)
11g.2587612A>CCA379134723KCNQ1c.814A>C (p.Thr272Pro)
c.631A>C (p.Thr211Pro)
c.1171A>C (p.Thr391Pro)
c.790A>C (p.Thr264Pro)
c.277A>C (p.Thr93Pro)
ClinVar
11g.2587612A>GCA379134724KCNQ1c.814A>G (p.Thr272Ala)
c.631A>G (p.Thr211Ala)
c.1171A>G (p.Thr391Ala)
c.790A>G (p.Thr264Ala)
c.277A>G (p.Thr93Ala)
dbSNP gnomAD v2
11g.2587612A>TCA379134725KCNQ1c.814A>T (p.Thr272Ser)
c.631A>T (p.Thr211Ser)
c.1171A>T (p.Thr391Ser)
c.790A>T (p.Thr264Ser)
c.277A>T (p.Thr93Ser)
11g.2587613C>ACA379134726KCNQ1c.815C>A (p.Thr272Asn)
c.632C>A (p.Thr211Asn)
c.1172C>A (p.Thr391Asn)
c.791C>A (p.Thr264Asn)
c.278C>A (p.Thr93Asn)
11g.2587613C=CA1948233208KCNQ1c.815C= (p.Thr272=)
c.632C= (p.Thr211=)
c.1172C= (p.Thr391=)
c.791C= (p.Thr264=)
c.278C= (p.Thr93=)
11g.2587613C>GCA379134727KCNQ1c.815C>G (p.Thr272Ser)
c.632C>G (p.Thr211Ser)
c.1172C>G (p.Thr391Ser)
c.791C>G (p.Thr264Ser)
c.278C>G (p.Thr93Ser)
11g.2587613C>TCA005438KCNQ1c.815C>T (p.Thr272Ile)
c.632C>T (p.Thr211Ile)
c.1172C>T (p.Thr391Ile)
c.791C>T (p.Thr264Ile)
c.278C>T (p.Thr93Ile)
ClinVar dbSNP
11g.2587614C>ACA472039102KCNQ1c.816C>A (p.Thr272=)
c.633C>A (p.Thr211=)
c.1173C>A (p.Thr391=)
c.792C>A (p.Thr264=)
c.279C>A (p.Thr93=)
11g.2587614C=CA1948233219KCNQ1c.816C= (p.Thr272=)
c.633C= (p.Thr211=)
c.1173C= (p.Thr391=)
c.792C= (p.Thr264=)
c.279C= (p.Thr93=)
11g.2587614C>GCA472039104KCNQ1c.816C>G (p.Thr272=)
c.633C>G (p.Thr211=)
c.1173C>G (p.Thr391=)
c.792C>G (p.Thr264=)
c.279C>G (p.Thr93=)
11g.2587614C>TCA027533KCNQ1c.816C>T (p.Thr272=)
c.633C>T (p.Thr211=)
c.1173C>T (p.Thr391=)
c.792C>T (p.Thr264=)
c.279C>T (p.Thr93=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2587615T>ACA379134728KCNQ1c.817T>A (p.Trp273Arg)
c.634T>A (p.Trp212Arg)
c.1174T>A (p.Trp392Arg)
c.793T>A (p.Trp265Arg)
c.280T>A (p.Trp94Arg)
11g.2587615T>CCA005449KCNQ1c.817T>C (p.Trp273Arg)
c.634T>C (p.Trp212Arg)
c.1174T>C (p.Trp392Arg)
c.793T>C (p.Trp265Arg)
c.280T>C (p.Trp94Arg)
ClinVar dbSNP
11g.2587615T>GCA379134729KCNQ1c.817T>G (p.Trp273Gly)
c.634T>G (p.Trp212Gly)
c.1174T>G (p.Trp392Gly)
c.793T>G (p.Trp265Gly)
c.280T>G (p.Trp94Gly)
11g.2587615T=CA1948233234KCNQ1c.817T= (p.Trp273=)
c.634T= (p.Trp212=)
c.1174T= (p.Trp392=)
c.793T= (p.Trp265=)
c.280T= (p.Trp94=)
11g.2587615_2587617dupCA005455KCNQ1c.817_819dup (p.Trp273_Lys274insTrp)
c.634_636dup (p.Trp212_Lys213insTrp)
c.1174_1176dup (p.Trp392_Lys393insTrp)
c.793_795dup (p.Trp265_Lys266insTrp)
c.280_282dup (p.Trp94_Lys95insTrp)
ClinVar dbSNP gnomAD v4
11g.2587616G>ACA16613564KCNQ1c.818G>A (p.Trp273Ter)
c.635G>A (p.Trp212Ter)
c.1175G>A (p.Trp392Ter)
c.794G>A (p.Trp265Ter)
c.281G>A (p.Trp94Ter)
ClinVar dbSNP
11g.2587616G>CCA379134731KCNQ1c.818G>C (p.Trp273Ser)
c.635G>C (p.Trp212Ser)
c.1175G>C (p.Trp392Ser)
c.794G>C (p.Trp265Ser)
c.281G>C (p.Trp94Ser)
11g.2587616G=CA1948233241KCNQ1c.818G= (p.Trp273=)
c.635G= (p.Trp212=)
c.1175G= (p.Trp392=)
c.794G= (p.Trp265=)
c.281G= (p.Trp94=)
11g.2587616G>TCA379134730KCNQ1c.818G>T (p.Trp273Leu)
c.635G>T (p.Trp212Leu)
c.1175G>T (p.Trp392Leu)
c.794G>T (p.Trp265Leu)
c.281G>T (p.Trp94Leu)
11g.2587617G>ACA005462KCNQ1c.819G>A (p.Trp273Ter)
c.636G>A (p.Trp212Ter)
c.1176G>A (p.Trp392Ter)
c.795G>A (p.Trp265Ter)
c.282G>A (p.Trp94Ter)
ClinVar dbSNP
11g.2587617G>CCA379134732KCNQ1c.819G>C (p.Trp273Cys)
c.636G>C (p.Trp212Cys)
c.1176G>C (p.Trp392Cys)
c.795G>C (p.Trp265Cys)
c.282G>C (p.Trp94Cys)
11g.2587617G=CA1948233244KCNQ1c.819G= (p.Trp273=)
c.636G= (p.Trp212=)
c.1176G= (p.Trp392=)
c.795G= (p.Trp265=)
c.282G= (p.Trp94=)
11g.2587617G>TCA379134733KCNQ1c.819G>T (p.Trp273Cys)
c.636G>T (p.Trp212Cys)
c.1176G>T (p.Trp392Cys)
c.795G>T (p.Trp265Cys)
c.282G>T (p.Trp94Cys)
11g.2587619_2587621dupCA658761338KCNQ1c.821_823dup (p.Lys274_Ile275insLys)
c.638_640dup (p.Lys213_Ile214insLys)
c.1178_1180dup (p.Lys393_Ile394insLys)
c.797_799dup (p.Lys266_Ile267insLys)
c.284_286dup (p.Lys95_Ile96insLys)
11g.2587618A=CA1948233256KCNQ1c.820A= (p.Lys274=)
c.637A= (p.Lys213=)
c.1177A= (p.Lys393=)
c.796A= (p.Lys266=)
c.283A= (p.Lys95=)
11g.2587618A>CCA379134734KCNQ1c.820A>C (p.Lys274Gln)
c.637A>C (p.Lys213Gln)
c.1177A>C (p.Lys393Gln)
c.796A>C (p.Lys266Gln)
c.283A>C (p.Lys95Gln)
11g.2587618A>GCA379134735KCNQ1c.820A>G (p.Lys274Glu)
c.637A>G (p.Lys213Glu)
c.1177A>G (p.Lys393Glu)
c.796A>G (p.Lys266Glu)
c.283A>G (p.Lys95Glu)
ClinVar dbSNP gnomAD v4
11g.2587618A>TCA379134736KCNQ1c.820A>T (p.Lys274Ter)
c.637A>T (p.Lys213Ter)
c.1177A>T (p.Lys393Ter)
c.796A>T (p.Lys266Ter)
c.283A>T (p.Lys95Ter)
11g.2587619A=CA1948233268KCNQ1c.821A= (p.Lys274=)
c.638A= (p.Lys213=)
c.1178A= (p.Lys393=)
c.797A= (p.Lys266=)
c.284A= (p.Lys95=)
11g.2587619A>CCA379134738KCNQ1c.821A>C (p.Lys274Thr)
c.638A>C (p.Lys213Thr)
c.1178A>C (p.Lys393Thr)
c.797A>C (p.Lys266Thr)
c.284A>C (p.Lys95Thr)
11g.2587619A>GCA379134737KCNQ1c.821A>G (p.Lys274Arg)
c.638A>G (p.Lys213Arg)
c.1178A>G (p.Lys393Arg)
c.797A>G (p.Lys266Arg)
c.284A>G (p.Lys95Arg)
gnomAD v4
11g.2587619A>TCA005470KCNQ1c.821A>T (p.Lys274Met)
c.638A>T (p.Lys213Met)
c.1178A>T (p.Lys393Met)
c.797A>T (p.Lys266Met)
c.284A>T (p.Lys95Met)
ClinVar dbSNP gnomAD v4
11g.2587620G>ACA472039119KCNQ1c.822G>A (p.Lys274=)
c.639G>A (p.Lys213=)
c.1179G>A (p.Lys393=)
c.798G>A (p.Lys266=)
c.285G>A (p.Lys95=)
11g.2587620G>CCA379134739KCNQ1c.822G>C (p.Lys274Asn)
c.639G>C (p.Lys213Asn)
c.1179G>C (p.Lys393Asn)
c.798G>C (p.Lys266Asn)
c.285G>C (p.Lys95Asn)
ClinVar
11g.2587620G=CA1948233280KCNQ1c.822G= (p.Lys274=)
c.639G= (p.Lys213=)
c.1179G= (p.Lys393=)
c.798G= (p.Lys266=)
c.285G= (p.Lys95=)
11g.2587620G>TCA005477KCNQ1c.822G>T (p.Lys274Asn)
c.639G>T (p.Lys213Asn)
c.1179G>T (p.Lys393Asn)
c.798G>T (p.Lys266Asn)
c.285G>T (p.Lys95Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2587621A=CA1948233286KCNQ1c.823A= (p.Ile275=)
c.640A= (p.Ile214=)
c.1180A= (p.Ile394=)
c.799A= (p.Ile267=)
c.286A= (p.Ile96=)
11g.2587621A>CCA379134740KCNQ1c.823A>C (p.Ile275Leu)
c.640A>C (p.Ile214Leu)
c.1180A>C (p.Ile394Leu)
c.799A>C (p.Ile267Leu)
c.286A>C (p.Ile96Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2587621A>GCA379134741KCNQ1c.823A>G (p.Ile275Val)
c.640A>G (p.Ile214Val)
c.1180A>G (p.Ile394Val)
c.799A>G (p.Ile267Val)
c.286A>G (p.Ile96Val)
11g.2587621A>TCA379134742KCNQ1c.823A>T (p.Ile275Phe)
c.640A>T (p.Ile214Phe)
c.1180A>T (p.Ile394Phe)
c.799A>T (p.Ile267Phe)
c.286A>T (p.Ile96Phe)

Number of alleles fetched