Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839606T>ACA383244597KCNJ1c.638A>T (p.Lys213Met)
c.695A>T (p.Lys232Met)
c.689A>T (p.Lys230Met)
11g.128839606T>CCA383244598KCNJ1c.638A>G (p.Lys213Arg)
c.695A>G (p.Lys232Arg)
c.689A>G (p.Lys230Arg)
11g.128839606T>GCA383244599KCNJ1c.638A>C (p.Lys213Thr)
c.695A>C (p.Lys232Thr)
c.689A>C (p.Lys230Thr)
11g.128839607T>ACA383244600KCNJ1c.637A>T (p.Lys213Ter)
c.694A>T (p.Lys232Ter)
c.688A>T (p.Lys230Ter)
11g.128839607T>CCA383244601KCNJ1c.637A>G (p.Lys213Glu)
c.694A>G (p.Lys232Glu)
c.688A>G (p.Lys230Glu)
11g.128839607T>GCA383244602KCNJ1c.637A>C (p.Lys213Gln)
c.694A>C (p.Lys232Gln)
c.688A>C (p.Lys230Gln)
11g.128839608C>ACA477703231KCNJ1c.636G>T (p.Leu212=)
c.693G>T (p.Leu231=)
c.687G>T (p.Leu229=)
11g.128839608C>GCA477703233KCNJ1c.636G>C (p.Leu212=)
c.693G>C (p.Leu231=)
c.687G>C (p.Leu229=)
11g.128839608C>TCA477703235KCNJ1c.636G>A (p.Leu212=)
c.693G>A (p.Leu231=)
c.687G>A (p.Leu229=)
11g.128839609A=CA2008250570KCNJ1c.635T= (p.Leu212=)
c.692T= (p.Leu231=)
c.686T= (p.Leu229=)
11g.128839609A>CCA383244603KCNJ1c.635T>G (p.Leu212Arg)
c.692T>G (p.Leu231Arg)
c.686T>G (p.Leu229Arg)
11g.128839609A>GCA383244604KCNJ1c.635T>C (p.Leu212Pro)
c.692T>C (p.Leu231Pro)
c.686T>C (p.Leu229Pro)
11g.128839609A>TCA383244605KCNJ1c.635T>A (p.Leu212Gln)
c.692T>A (p.Leu231Gln)
c.686T>A (p.Leu229Gln)
dbSNP gnomAD v3 gnomAD v4
11g.128839610G>ACA477703236KCNJ1c.634C>T (p.Leu212=)
c.691C>T (p.Leu231=)
c.685C>T (p.Leu229=)
11g.128839610G>CCA383244606KCNJ1c.634C>G (p.Leu212Val)
c.691C>G (p.Leu231Val)
c.685C>G (p.Leu229Val)
11g.128839610G>TCA383244607KCNJ1c.634C>A (p.Leu212Met)
c.691C>A (p.Leu231Met)
c.685C>A (p.Leu229Met)
11g.128839611A>CCA477703237KCNJ1c.633T>G (p.Leu211=)
c.690T>G (p.Leu230=)
c.684T>G (p.Leu228=)
11g.128839611A>GCA477703238KCNJ1c.633T>C (p.Leu211=)
c.690T>C (p.Leu230=)
c.684T>C (p.Leu228=)
11g.128839611A>TCA477703239KCNJ1c.633T>A (p.Leu211=)
c.690T>A (p.Leu230=)
c.684T>A (p.Leu228=)
11g.128839612A=CA2008250575KCNJ1c.632T= (p.Leu211=)
c.689T= (p.Leu230=)
c.683T= (p.Leu228=)
11g.128839612A>CCA383244610KCNJ1c.632T>G (p.Leu211Arg)
c.689T>G (p.Leu230Arg)
c.683T>G (p.Leu228Arg)
11g.128839612A>GCA383244609KCNJ1c.632T>C (p.Leu211Pro)
c.689T>C (p.Leu230Pro)
c.683T>C (p.Leu228Pro)
dbSNP gnomAD v3 gnomAD v4
11g.128839612A>TCA383244608KCNJ1c.632T>A (p.Leu211His)
c.689T>A (p.Leu230His)
c.683T>A (p.Leu228His)
11g.128839613G>ACA6357482KCNJ1c.631C>T (p.Leu211Phe)
c.688C>T (p.Leu230Phe)
c.682C>T (p.Leu228Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839613G>CCA383244611KCNJ1c.631C>G (p.Leu211Val)
c.688C>G (p.Leu230Val)
c.682C>G (p.Leu228Val)
11g.128839613G=CA2008250580KCNJ1c.631C= (p.Leu211=)
c.688C= (p.Leu230=)
c.682C= (p.Leu228=)
11g.128839613G>TCA383244612KCNJ1c.631C>A (p.Leu211Ile)
c.688C>A (p.Leu230Ile)
c.682C>A (p.Leu228Ile)
11g.128839614C>ACA383244613KCNJ1c.630G>T (p.Lys210Asn)
c.687G>T (p.Lys229Asn)
c.681G>T (p.Lys227Asn)
11g.128839614C>GCA383244614KCNJ1c.630G>C (p.Lys210Asn)
c.687G>C (p.Lys229Asn)
c.681G>C (p.Lys227Asn)
11g.128839614C>TCA477703240KCNJ1c.630G>A (p.Lys210=)
c.687G>A (p.Lys229=)
c.681G>A (p.Lys227=)
gnomAD v4
11g.128839615T>ACA383244615KCNJ1c.629A>T (p.Lys210Met)
c.686A>T (p.Lys229Met)
c.680A>T (p.Lys227Met)
11g.128839615T>CCA383244616KCNJ1c.629A>G (p.Lys210Arg)
c.686A>G (p.Lys229Arg)
c.680A>G (p.Lys227Arg)
11g.128839615T>GCA383244617KCNJ1c.629A>C (p.Lys210Thr)
c.686A>C (p.Lys229Thr)
c.680A>C (p.Lys227Thr)
11g.128839616T>ACA383244618KCNJ1c.628A>T (p.Lys210Ter)
c.685A>T (p.Lys229Ter)
c.679A>T (p.Lys227Ter)
11g.128839616T>CCA383244619KCNJ1c.628A>G (p.Lys210Glu)
c.685A>G (p.Lys229Glu)
c.679A>G (p.Lys227Glu)
11g.128839616T>GCA383244620KCNJ1c.628A>C (p.Lys210Gln)
c.685A>C (p.Lys229Gln)
c.679A>C (p.Lys227Gln)
COSMIC
11g.128839617T>ACA477703244KCNJ1c.627A>T (p.Gly209=)
c.684A>T (p.Gly228=)
c.678A>T (p.Gly226=)
11g.128839617T>CCA477703243KCNJ1c.627A>G (p.Gly209=)
c.684A>G (p.Gly228=)
c.678A>G (p.Gly226=)
11g.128839617T>GCA477703242KCNJ1c.627A>C (p.Gly209=)
c.684A>C (p.Gly228=)
c.678A>C (p.Gly226=)
11g.128839618C>ACA6357483KCNJ1c.626G>T (p.Gly209Val)
c.683G>T (p.Gly228Val)
c.677G>T (p.Gly226Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839618C=CA2008250586KCNJ1c.626G= (p.Gly209=)
c.683G= (p.Gly228=)
c.677G= (p.Gly226=)
11g.128839618C>GCA383244621KCNJ1c.626G>C (p.Gly209Ala)
c.683G>C (p.Gly228Ala)
c.677G>C (p.Gly226Ala)
11g.128839618C>TCA230628371KCNJ1c.626G>A (p.Gly209Glu)
c.683G>A (p.Gly228Glu)
c.677G>A (p.Gly226Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839619C>ACA383244623KCNJ1c.625G>T (p.Gly209Ter)
c.682G>T (p.Gly228Ter)
c.676G>T (p.Gly226Ter)
11g.128839619C=CA2008250592KCNJ1c.625G= (p.Gly209=)
c.682G= (p.Gly228=)
c.676G= (p.Gly226=)
11g.128839619C>GCA383244622KCNJ1c.625G>C (p.Gly209Arg)
c.682G>C (p.Gly228Arg)
c.676G>C (p.Gly226Arg)
11g.128839619C>TCA230628392KCNJ1c.625G>A (p.Gly209Arg)
c.682G>A (p.Gly228Arg)
c.676G>A (p.Gly226Arg)
dbSNP gnomAD v3 gnomAD v4
11g.128839620A=CA2008250595KCNJ1c.624T= (p.Tyr208=)
c.681T= (p.Tyr227=)
c.675T= (p.Tyr225=)
11g.128839620A>CCA383244624KCNJ1c.624T>G (p.Tyr208Ter)
c.681T>G (p.Tyr227Ter)
c.675T>G (p.Tyr225Ter)
11g.128839620A>GCA6357484KCNJ1c.624T>C (p.Tyr208=)
c.681T>C (p.Tyr227=)
c.675T>C (p.Tyr225=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839620A>TCA383244625KCNJ1c.624T>A (p.Tyr208Ter)
c.681T>A (p.Tyr227Ter)
c.675T>A (p.Tyr225Ter)
11g.128839621T>ACA383244626KCNJ1c.623A>T (p.Tyr208Phe)
c.680A>T (p.Tyr227Phe)
c.674A>T (p.Tyr225Phe)
11g.128839621T>CCA383244627KCNJ1c.623A>G (p.Tyr208Cys)
c.680A>G (p.Tyr227Cys)
c.674A>G (p.Tyr225Cys)
ClinVar dbSNP
11g.128839621T>GCA383244628KCNJ1c.623A>C (p.Tyr208Ser)
c.680A>C (p.Tyr227Ser)
c.674A>C (p.Tyr225Ser)
11g.128839621T=CA2008250602KCNJ1c.623A= (p.Tyr208=)
c.680A= (p.Tyr227=)
c.674A= (p.Tyr225=)
11g.128839622A>CCA383244629KCNJ1c.622T>G (p.Tyr208Asp)
c.679T>G (p.Tyr227Asp)
c.673T>G (p.Tyr225Asp)
11g.128839622A>GCA383244630KCNJ1c.622T>C (p.Tyr208His)
c.679T>C (p.Tyr227His)
c.673T>C (p.Tyr225His)
11g.128839622A>TCA383244631KCNJ1c.622T>A (p.Tyr208Asn)
c.679T>A (p.Tyr227Asn)
c.673T>A (p.Tyr225Asn)
11g.128839623A=CA2008250611KCNJ1c.621T= (p.Ile207=)
c.678T= (p.Ile226=)
c.672T= (p.Ile224=)
11g.128839623A>CCA6357485KCNJ1c.621T>G (p.Ile207Met)
c.678T>G (p.Ile226Met)
c.672T>G (p.Ile224Met)
dbSNP ExAC gnomAD v2
11g.128839623A>GCA477703246KCNJ1c.621T>C (p.Ile207=)
c.678T>C (p.Ile226=)
c.672T>C (p.Ile224=)
11g.128839623A>TCA477703245KCNJ1c.621T>A (p.Ile207=)
c.678T>A (p.Ile226=)
c.672T>A (p.Ile224=)
11g.128839624A>CCA383244632KCNJ1c.620T>G (p.Ile207Ser)
c.677T>G (p.Ile226Ser)
c.671T>G (p.Ile224Ser)
11g.128839624A>GCA383244633KCNJ1c.620T>C (p.Ile207Thr)
c.677T>C (p.Ile226Thr)
c.671T>C (p.Ile224Thr)
11g.128839624A>TCA383244634KCNJ1c.620T>A (p.Ile207Asn)
c.677T>A (p.Ile226Asn)
c.671T>A (p.Ile224Asn)
11g.128839625T>ACA383244636KCNJ1c.619A>T (p.Ile207Phe)
c.676A>T (p.Ile226Phe)
c.670A>T (p.Ile224Phe)
11g.128839625T>CCA383244637KCNJ1c.619A>G (p.Ile207Val)
c.676A>G (p.Ile226Val)
c.670A>G (p.Ile224Val)
11g.128839625T>GCA383244635KCNJ1c.619A>C (p.Ile207Leu)
c.676A>C (p.Ile226Leu)
c.670A>C (p.Ile224Leu)
11g.128839626G>ACA6357486KCNJ1c.618C>T (p.His206=)
c.675C>T (p.His225=)
c.669C>T (p.His223=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839626G>CCA383244639KCNJ1c.618C>G (p.His206Gln)
c.675C>G (p.His225Gln)
c.669C>G (p.His223Gln)
11g.128839626G=CA2008250621KCNJ1c.618C= (p.His206=)
c.675C= (p.His225=)
c.669C= (p.His223=)
11g.128839626G>TCA383244638KCNJ1c.618C>A (p.His206Gln)
c.675C>A (p.His225Gln)
c.669C>A (p.His223Gln)
11g.128839627T>ACA383244640KCNJ1c.617A>T (p.His206Leu)
c.674A>T (p.His225Leu)
c.668A>T (p.His223Leu)
11g.128839627T>CCA383244641KCNJ1c.617A>G (p.His206Arg)
c.674A>G (p.His225Arg)
c.668A>G (p.His223Arg)
11g.128839627T>GCA383244642KCNJ1c.617A>C (p.His206Pro)
c.674A>C (p.His225Pro)
c.668A>C (p.His223Pro)
11g.128839628G>ACA383244643KCNJ1c.616C>T (p.His206Tyr)
c.673C>T (p.His225Tyr)
c.667C>T (p.His223Tyr)
11g.128839628G>CCA383244644KCNJ1c.616C>G (p.His206Asp)
c.673C>G (p.His225Asp)
c.667C>G (p.His223Asp)
11g.128839628G>TCA383244645KCNJ1c.616C>A (p.His206Asn)
c.673C>A (p.His225Asn)
c.667C>A (p.His223Asn)
11g.128839629A=CA2008250628KCNJ1c.615T= (p.Ser205=)
c.672T= (p.Ser224=)
c.666T= (p.Ser222=)
11g.128839629A>CCA383244646KCNJ1c.615T>G (p.Ser205Arg)
c.672T>G (p.Ser224Arg)
c.666T>G (p.Ser222Arg)
dbSNP
11g.128839629A>GCA477703247KCNJ1c.615T>C (p.Ser205=)
c.672T>C (p.Ser224=)
c.666T>C (p.Ser222=)
11g.128839629A>TCA383244647KCNJ1c.615T>A (p.Ser205Arg)
c.672T>A (p.Ser224Arg)
c.666T>A (p.Ser222Arg)
11g.128839630C>ACA383244648KCNJ1c.614G>T (p.Ser205Ile)
c.671G>T (p.Ser224Ile)
c.665G>T (p.Ser222Ile)
11g.128839630C=CA2008250631KCNJ1c.614G= (p.Ser205=)
c.671G= (p.Ser224=)
c.665G= (p.Ser222=)
11g.128839630C>GCA383244649KCNJ1c.614G>C (p.Ser205Thr)
c.671G>C (p.Ser224Thr)
c.665G>C (p.Ser222Thr)
11g.128839630C>TCA383244650KCNJ1c.614G>A (p.Ser205Asn)
c.671G>A (p.Ser224Asn)
c.665G>A (p.Ser222Asn)
dbSNP gnomAD v2 gnomAD v4
11g.128839631T>ACA383244653KCNJ1c.613A>T (p.Ser205Cys)
c.670A>T (p.Ser224Cys)
c.664A>T (p.Ser222Cys)
11g.128839631T>CCA383244651KCNJ1c.613A>G (p.Ser205Gly)
c.670A>G (p.Ser224Gly)
c.664A>G (p.Ser222Gly)
11g.128839631T>GCA383244652KCNJ1c.613A>C (p.Ser205Arg)
c.670A>C (p.Ser224Arg)
c.664A>C (p.Ser222Arg)
11g.128839632delCA2575025048KCNJ1c.612del (p.Ser205ValfsTer8)
c.669del (p.Ser224ValfsTer8)
c.663del (p.Ser222ValfsTer8)
11g.128839632G>ACA477703248KCNJ1c.612C>T (p.Gly204=)
c.669C>T (p.Gly223=)
c.663C>T (p.Gly221=)
gnomAD v4
11g.128839632G>CCA477703249KCNJ1c.612C>G (p.Gly204=)
c.669C>G (p.Gly223=)
c.663C>G (p.Gly221=)
11g.128839632G>TCA477703250KCNJ1c.612C>A (p.Gly204=)
c.669C>A (p.Gly223=)
c.663C>A (p.Gly221=)
11g.128839633C>ACA383244654KCNJ1c.611G>T (p.Gly204Val)
c.668G>T (p.Gly223Val)
c.662G>T (p.Gly221Val)
11g.128839633C=CA2008250637KCNJ1c.611G= (p.Gly204=)
c.668G= (p.Gly223=)
c.662G= (p.Gly221=)
11g.128839633C>GCA383244655KCNJ1c.611G>C (p.Gly204Ala)
c.668G>C (p.Gly223Ala)
c.662G>C (p.Gly221Ala)
11g.128839633C>TCA383244656KCNJ1c.611G>A (p.Gly204Asp)
c.668G>A (p.Gly223Asp)
c.662G>A (p.Gly221Asp)
dbSNP gnomAD v2 gnomAD v4
11g.128839634C>ACA383244657KCNJ1c.610G>T (p.Gly204Cys)
c.667G>T (p.Gly223Cys)
c.661G>T (p.Gly221Cys)
11g.128839634C=CA2008250643KCNJ1c.610G= (p.Gly204=)
c.667G= (p.Gly223=)
c.661G= (p.Gly221=)
11g.128839634C>GCA6357487KCNJ1c.610G>C (p.Gly204Arg)
c.667G>C (p.Gly223Arg)
c.661G>C (p.Gly221Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839634C>TCA383244658KCNJ1c.610G>A (p.Gly204Ser)
c.667G>A (p.Gly223Ser)
c.661G>A (p.Gly221Ser)
dbSNP
11g.128839635A>CCA383244659KCNJ1c.609T>G (p.Ile203Met)
c.666T>G (p.Ile222Met)
c.660T>G (p.Ile220Met)
11g.128839635A>GCA477703251KCNJ1c.609T>C (p.Ile203=)
c.666T>C (p.Ile222=)
c.660T>C (p.Ile220=)
11g.128839635A>TCA477703252KCNJ1c.609T>A (p.Ile203=)
c.666T>A (p.Ile222=)
c.660T>A (p.Ile220=)
11g.128839636A=CA2008250651KCNJ1c.608T= (p.Ile203=)
c.665T= (p.Ile222=)
c.659T= (p.Ile220=)
11g.128839636A>CCA383244660KCNJ1c.608T>G (p.Ile203Ser)
c.665T>G (p.Ile222Ser)
c.659T>G (p.Ile220Ser)
11g.128839636A>GCA383244661KCNJ1c.608T>C (p.Ile203Thr)
c.665T>C (p.Ile222Thr)
c.659T>C (p.Ile220Thr)
dbSNP gnomAD v2 gnomAD v4
11g.128839636A>TCA383244662KCNJ1c.608T>A (p.Ile203Asn)
c.665T>A (p.Ile222Asn)
c.659T>A (p.Ile220Asn)
11g.128839637T>ACA383244664KCNJ1c.607A>T (p.Ile203Phe)
c.664A>T (p.Ile222Phe)
c.658A>T (p.Ile220Phe)
11g.128839637T>CCA383244665KCNJ1c.607A>G (p.Ile203Val)
c.664A>G (p.Ile222Val)
c.658A>G (p.Ile220Val)
gnomAD v4
11g.128839637T>GCA383244663KCNJ1c.607A>C (p.Ile203Leu)
c.664A>C (p.Ile222Leu)
c.658A>C (p.Ile220Leu)
11g.128839638A=CA2008250654KCNJ1c.606T= (p.Leu202=)
c.663T= (p.Leu221=)
c.657T= (p.Leu219=)
11g.128839638A>CCA477703253KCNJ1c.606T>G (p.Leu202=)
c.663T>G (p.Leu221=)
c.657T>G (p.Leu219=)
11g.128839638A>GCA230628439KCNJ1c.606T>C (p.Leu202=)
c.663T>C (p.Leu221=)
c.657T>C (p.Leu219=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839638A>TCA477703254KCNJ1c.606T>A (p.Leu202=)
c.663T>A (p.Leu221=)
c.657T>A (p.Leu219=)
11g.128839639A>CCA383244666KCNJ1c.605T>G (p.Leu202Arg)
c.662T>G (p.Leu221Arg)
c.656T>G (p.Leu219Arg)
11g.128839639A>GCA383244667KCNJ1c.605T>C (p.Leu202Pro)
c.662T>C (p.Leu221Pro)
c.656T>C (p.Leu219Pro)
11g.128839639A>TCA383244668KCNJ1c.605T>A (p.Leu202His)
c.662T>A (p.Leu221His)
c.656T>A (p.Leu219His)
11g.128839640G>ACA383244669KCNJ1c.604C>T (p.Leu202Phe)
c.661C>T (p.Leu221Phe)
c.655C>T (p.Leu219Phe)
11g.128839640G>CCA383244670KCNJ1c.604C>G (p.Leu202Val)
c.661C>G (p.Leu221Val)
c.655C>G (p.Leu219Val)
11g.128839640G>TCA383244671KCNJ1c.604C>A (p.Leu202Ile)
c.661C>A (p.Leu221Ile)
c.655C>A (p.Leu219Ile)
11g.128839641A>CCA477703255KCNJ1c.603T>G (p.Leu201=)
c.660T>G (p.Leu220=)
c.654T>G (p.Leu218=)
11g.128839641A>GCA477703256KCNJ1c.603T>C (p.Leu201=)
c.660T>C (p.Leu220=)
c.654T>C (p.Leu218=)
11g.128839641A>TCA477703257KCNJ1c.603T>A (p.Leu201=)
c.660T>A (p.Leu220=)
c.654T>A (p.Leu218=)
11g.128839642A=CA2008250659KCNJ1c.602T= (p.Leu201=)
c.659T= (p.Leu220=)
c.653T= (p.Leu218=)
11g.128839642A>CCA383244672KCNJ1c.602T>G (p.Leu201Arg)
c.659T>G (p.Leu220Arg)
c.653T>G (p.Leu218Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839642A>GCA383244673KCNJ1c.602T>C (p.Leu201Pro)
c.659T>C (p.Leu220Pro)
c.653T>C (p.Leu218Pro)
11g.128839642A>TCA383244674KCNJ1c.602T>A (p.Leu201His)
c.659T>A (p.Leu220His)
c.653T>A (p.Leu218His)
dbSNP
11g.128839643G>ACA6357488KCNJ1c.601C>T (p.Leu201Phe)
c.658C>T (p.Leu220Phe)
c.652C>T (p.Leu218Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839643G>CCA383244675KCNJ1c.601C>G (p.Leu201Val)
c.658C>G (p.Leu220Val)
c.652C>G (p.Leu218Val)
11g.128839643G=CA2008250670KCNJ1c.601C= (p.Leu201=)
c.658C= (p.Leu220=)
c.652C= (p.Leu218=)
11g.128839643G>TCA383244676KCNJ1c.601C>A (p.Leu201Ile)
c.658C>A (p.Leu220Ile)
c.652C>A (p.Leu218Ile)
11g.128839644G>ACA477703258KCNJ1c.600C>T (p.Ser200=)
c.657C>T (p.Ser219=)
c.651C>T (p.Ser217=)
11g.128839644G>CCA120152KCNJ1c.600C>G (p.Ser200Arg)
c.657C>G (p.Ser219Arg)
c.651C>G (p.Ser217Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839644G=CA2008250694KCNJ1c.600C= (p.Ser200=)
c.657C= (p.Ser219=)
c.651C= (p.Ser217=)
11g.128839644G>TCA383244677KCNJ1c.600C>A (p.Ser200Arg)
c.657C>A (p.Ser219Arg)
c.651C>A (p.Ser217Arg)
ClinVar gnomAD v4
11g.128839645C>ACA383244678KCNJ1c.599G>T (p.Ser200Ile)
c.656G>T (p.Ser219Ile)
c.650G>T (p.Ser217Ile)
11g.128839645C>GCA383244679KCNJ1c.599G>C (p.Ser200Thr)
c.656G>C (p.Ser219Thr)
c.650G>C (p.Ser217Thr)
11g.128839645C>TCA383244680KCNJ1c.599G>A (p.Ser200Asn)
c.656G>A (p.Ser219Asn)
c.650G>A (p.Ser217Asn)
11g.128839646T>ACA383244681KCNJ1c.598A>T (p.Ser200Cys)
c.655A>T (p.Ser219Cys)
c.649A>T (p.Ser217Cys)
11g.128839646T>CCA383244682KCNJ1c.598A>G (p.Ser200Gly)
c.655A>G (p.Ser219Gly)
c.649A>G (p.Ser217Gly)
11g.128839646T>GCA383244683KCNJ1c.598A>C (p.Ser200Arg)
c.655A>C (p.Ser219Arg)
c.649A>C (p.Ser217Arg)
11g.128839647C>ACA383244684KCNJ1c.597G>T (p.Lys199Asn)
c.654G>T (p.Lys218Asn)
c.648G>T (p.Lys216Asn)
11g.128839647C=CA2008250698KCNJ1c.597G= (p.Lys199=)
c.654G= (p.Lys218=)
c.648G= (p.Lys216=)
11g.128839647C>GCA383244685KCNJ1c.597G>C (p.Lys199Asn)
c.654G>C (p.Lys218Asn)
c.648G>C (p.Lys216Asn)
dbSNP
11g.128839647C>TCA477703259KCNJ1c.597G>A (p.Lys199=)
c.654G>A (p.Lys218=)
c.648G>A (p.Lys216=)
11g.128839648T>ACA383244686KCNJ1c.596A>T (p.Lys199Met)
c.653A>T (p.Lys218Met)
c.647A>T (p.Lys216Met)
dbSNP gnomAD v4
11g.128839648T>CCA383244687KCNJ1c.596A>G (p.Lys199Arg)
c.653A>G (p.Lys218Arg)
c.647A>G (p.Lys216Arg)
11g.128839648T>GCA383244688KCNJ1c.596A>C (p.Lys199Thr)
c.653A>C (p.Lys218Thr)
c.647A>C (p.Lys216Thr)
11g.128839648T=CA2008250706KCNJ1c.596A= (p.Lys199=)
c.653A= (p.Lys218=)
c.647A= (p.Lys216=)
11g.128839649T>ACA383244689KCNJ1c.595A>T (p.Lys199Ter)
c.652A>T (p.Lys218Ter)
c.646A>T (p.Lys216Ter)
dbSNP gnomAD v4
11g.128839649T>CCA383244690KCNJ1c.595A>G (p.Lys199Glu)
c.652A>G (p.Lys218Glu)
c.646A>G (p.Lys216Glu)
11g.128839649T>GCA383244691KCNJ1c.595A>C (p.Lys199Gln)
c.652A>C (p.Lys218Gln)
c.646A>C (p.Lys216Gln)
11g.128839649T=CA2008250715KCNJ1c.595A= (p.Lys199=)
c.652A= (p.Lys218=)
c.646A= (p.Lys216=)
11g.128839650C>ACA383244692KCNJ1c.594G>T (p.Arg198Ser)
c.651G>T (p.Arg217Ser)
c.645G>T (p.Arg215Ser)
11g.128839650C=CA2008250720KCNJ1c.594G= (p.Arg198=)
c.651G= (p.Arg217=)
c.645G= (p.Arg215=)
11g.128839650C>GCA383244693KCNJ1c.594G>C (p.Arg198Ser)
c.651G>C (p.Arg217Ser)
c.645G>C (p.Arg215Ser)
11g.128839650C>TCA477703260KCNJ1c.594G>A (p.Arg198=)
c.651G>A (p.Arg217=)
c.645G>A (p.Arg215=)
dbSNP gnomAD v2 gnomAD v4
11g.128839651C>ACA383244694KCNJ1c.593G>T (p.Arg198Met)
c.650G>T (p.Arg217Met)
c.644G>T (p.Arg215Met)
11g.128839651C=CA2008250726KCNJ1c.593G= (p.Arg198=)
c.650G= (p.Arg217=)
c.644G= (p.Arg215=)
11g.128839651C>GCA383244695KCNJ1c.593G>C (p.Arg198Thr)
c.650G>C (p.Arg217Thr)
c.644G>C (p.Arg215Thr)
11g.128839651C>TCA383244696KCNJ1c.593G>A (p.Arg198Lys)
c.650G>A (p.Arg217Lys)
c.644G>A (p.Arg215Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839652T>ACA383244697KCNJ1c.592A>T (p.Arg198Trp)
c.649A>T (p.Arg217Trp)
c.643A>T (p.Arg215Trp)
11g.128839652T>CCA383244698KCNJ1c.592A>G (p.Arg198Gly)
c.649A>G (p.Arg217Gly)
c.643A>G (p.Arg215Gly)
11g.128839652T>GCA477703261KCNJ1c.592A>C (p.Arg198=)
c.649A>C (p.Arg217=)
c.643A>C (p.Arg215=)
11g.128839653G>ACA477703262KCNJ1c.591C>T (p.Leu197=)
c.648C>T (p.Leu216=)
c.642C>T (p.Leu214=)
dbSNP gnomAD v2
11g.128839653G>CCA477703263KCNJ1c.591C>G (p.Leu197=)
c.648C>G (p.Leu216=)
c.642C>G (p.Leu214=)
dbSNP COSMIC
11g.128839653G=CA2008250734KCNJ1c.591C= (p.Leu197=)
c.648C= (p.Leu216=)
c.642C= (p.Leu214=)
11g.128839653G>TCA477703264KCNJ1c.591C>A (p.Leu197=)
c.648C>A (p.Leu216=)
c.642C>A (p.Leu214=)
11g.128839654A>CCA383244699KCNJ1c.590T>G (p.Leu197Arg)
c.647T>G (p.Leu216Arg)
c.641T>G (p.Leu214Arg)
11g.128839654A>GCA383244700KCNJ1c.590T>C (p.Leu197Pro)
c.647T>C (p.Leu216Pro)
c.641T>C (p.Leu214Pro)
11g.128839654A>TCA383244701KCNJ1c.590T>A (p.Leu197His)
c.647T>A (p.Leu216His)
c.641T>A (p.Leu214His)
11g.128839655G>ACA383244702KCNJ1c.589C>T (p.Leu197Phe)
c.646C>T (p.Leu216Phe)
c.640C>T (p.Leu214Phe)
11g.128839655G>CCA383244704KCNJ1c.589C>G (p.Leu197Val)
c.646C>G (p.Leu216Val)
c.640C>G (p.Leu214Val)
11g.128839655G>TCA383244703KCNJ1c.589C>A (p.Leu197Ile)
c.646C>A (p.Leu216Ile)
c.640C>A (p.Leu214Ile)
11g.128839656A>CCA383244705KCNJ1c.588T>G (p.Asn196Lys)
c.645T>G (p.Asn215Lys)
c.639T>G (p.Asn213Lys)
11g.128839656A>GCA477703265KCNJ1c.588T>C (p.Asn196=)
c.645T>C (p.Asn215=)
c.639T>C (p.Asn213=)
11g.128839656A>TCA383244706KCNJ1c.588T>A (p.Asn196Lys)
c.645T>A (p.Asn215Lys)
c.639T>A (p.Asn213Lys)
11g.128839657T>ACA383244707KCNJ1c.587A>T (p.Asn196Ile)
c.644A>T (p.Asn215Ile)
c.638A>T (p.Asn213Ile)
11g.128839657T>CCA383244708KCNJ1c.587A>G (p.Asn196Ser)
c.644A>G (p.Asn215Ser)
c.638A>G (p.Asn213Ser)
gnomAD v4
11g.128839657T>GCA383244709KCNJ1c.587A>C (p.Asn196Thr)
c.644A>C (p.Asn215Thr)
c.638A>C (p.Asn213Thr)
11g.128839658T>ACA383244710KCNJ1c.586A>T (p.Asn196Tyr)
c.643A>T (p.Asn215Tyr)
c.637A>T (p.Asn213Tyr)
11g.128839658T>CCA6357489KCNJ1c.586A>G (p.Asn196Asp)
c.643A>G (p.Asn215Asp)
c.637A>G (p.Asn213Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839658T>GCA383244711KCNJ1c.586A>C (p.Asn196His)
c.643A>C (p.Asn215His)
c.637A>C (p.Asn213His)
11g.128839658T=CA2008250741KCNJ1c.586A= (p.Asn196=)
c.643A= (p.Asn215=)
c.637A= (p.Asn213=)
11g.128839659A>CCA477703268KCNJ1c.585T>G (p.Ala195=)
c.642T>G (p.Ala214=)
c.636T>G (p.Ala212=)
11g.128839659A>GCA477703269KCNJ1c.585T>C (p.Ala195=)
c.642T>C (p.Ala214=)
c.636T>C (p.Ala212=)
11g.128839659A>TCA477703270KCNJ1c.585T>A (p.Ala195=)
c.642T>A (p.Ala214=)
c.636T>A (p.Ala212=)
11g.128839660G>ACA120154KCNJ1c.584C>T (p.Ala195Val)
c.641C>T (p.Ala214Val)
c.635C>T (p.Ala212Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839660G>CCA6357490KCNJ1c.584C>G (p.Ala195Gly)
c.641C>G (p.Ala214Gly)
c.635C>G (p.Ala212Gly)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.128839660G=CA2008250746KCNJ1c.584C= (p.Ala195=)
c.641C= (p.Ala214=)
c.635C= (p.Ala212=)
11g.128839660G>TCA383244712KCNJ1c.584C>A (p.Ala195Asp)
c.641C>A (p.Ala214Asp)
c.635C>A (p.Ala212Asp)
11g.128839661C>ACA383244713KCNJ1c.583G>T (p.Ala195Ser)
c.640G>T (p.Ala214Ser)
c.634G>T (p.Ala212Ser)
11g.128839661C=CA2008250759KCNJ1c.583G= (p.Ala195=)
c.640G= (p.Ala214=)
c.634G= (p.Ala212=)
11g.128839661C>GCA383244714KCNJ1c.583G>C (p.Ala195Pro)
c.640G>C (p.Ala214Pro)
c.634G>C (p.Ala212Pro)
11g.128839661C>TCA383244715KCNJ1c.583G>A (p.Ala195Thr)
c.640G>A (p.Ala214Thr)
c.634G>A (p.Ala212Thr)
dbSNP gnomAD v2
11g.128839662C>ACA477703273KCNJ1c.582G>T (p.Val194=)
c.639G>T (p.Val213=)
c.633G>T (p.Val211=)
11g.128839662C>GCA477703274KCNJ1c.582G>C (p.Val194=)
c.639G>C (p.Val213=)
c.633G>C (p.Val211=)
11g.128839662C>TCA477703275KCNJ1c.582G>A (p.Val194=)
c.639G>A (p.Val213=)
c.633G>A (p.Val211=)
11g.128839663A=CA2008250764KCNJ1c.581T= (p.Val194=)
c.638T= (p.Val213=)
c.632T= (p.Val211=)
11g.128839663A>CCA230628450KCNJ1c.581T>G (p.Val194Gly)
c.638T>G (p.Val213Gly)
c.632T>G (p.Val211Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839663A>GCA383244716KCNJ1c.581T>C (p.Val194Ala)
c.638T>C (p.Val213Ala)
c.632T>C (p.Val211Ala)
gnomAD v4
11g.128839663A>TCA383244717KCNJ1c.581T>A (p.Val194Glu)
c.638T>A (p.Val213Glu)
c.632T>A (p.Val211Glu)
11g.128839664C>ACA383244718KCNJ1c.580G>T (p.Val194Leu)
c.637G>T (p.Val213Leu)
c.631G>T (p.Val211Leu)
11g.128839664C=CA2008250775KCNJ1c.580G= (p.Val194=)
c.637G= (p.Val213=)
c.631G= (p.Val211=)
11g.128839664C>GCA383244719KCNJ1c.580G>C (p.Val194Leu)
c.637G>C (p.Val213Leu)
c.631G>C (p.Val211Leu)
11g.128839664C>TCA6357491KCNJ1c.580G>A (p.Val194Met)
c.637G>A (p.Val213Met)
c.631G>A (p.Val211Met)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839665T>ACA477703279KCNJ1c.579A>T (p.Arg193=)
c.636A>T (p.Arg212=)
c.630A>T (p.Arg210=)
11g.128839665T>CCA477703276KCNJ1c.579A>G (p.Arg193=)
c.636A>G (p.Arg212=)
c.630A>G (p.Arg210=)
11g.128839665T>GCA477703277KCNJ1c.579A>C (p.Arg193=)
c.636A>C (p.Arg212=)
c.630A>C (p.Arg210=)
11g.128839666C>ACA383244720KCNJ1c.578G>T (p.Arg193Leu)
c.635G>T (p.Arg212Leu)
c.629G>T (p.Arg210Leu)
11g.128839666C=CA2008250784KCNJ1c.578G= (p.Arg193=)
c.635G= (p.Arg212=)
c.629G= (p.Arg210=)
11g.128839666C>GCA230628472KCNJ1c.578G>C (p.Arg193Pro)
c.635G>C (p.Arg212Pro)
c.629G>C (p.Arg210Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839666C>TCA6357492KCNJ1c.578G>A (p.Arg193Gln)
c.635G>A (p.Arg212Gln)
c.629G>A (p.Arg210Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839667G>ACA6357493KCNJ1c.577C>T (p.Arg193Ter)
c.634C>T (p.Arg212Ter)
c.628C>T (p.Arg210Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839667G>CCA383244721KCNJ1c.577C>G (p.Arg193Gly)
c.634C>G (p.Arg212Gly)
c.628C>G (p.Arg210Gly)
11g.128839667G=CA2008250792KCNJ1c.577C= (p.Arg193=)
c.634C= (p.Arg212=)
c.628C= (p.Arg210=)
11g.128839667G>TCA477703280KCNJ1c.577C>A (p.Arg193=)
c.634C>A (p.Arg212=)
c.628C>A (p.Arg210=)
11g.128839668G>ACA477703281KCNJ1c.576C>T (p.Ile192=)
c.633C>T (p.Ile211=)
c.627C>T (p.Ile209=)
COSMIC
11g.128839668G>CCA383244722KCNJ1c.576C>G (p.Ile192Met)
c.633C>G (p.Ile211Met)
c.627C>G (p.Ile209Met)
11g.128839668G>TCA477703282KCNJ1c.576C>A (p.Ile192=)
c.633C>A (p.Ile211=)
c.627C>A (p.Ile209=)
11g.128839669A>CCA383244723KCNJ1c.575T>G (p.Ile192Ser)
c.632T>G (p.Ile211Ser)
c.626T>G (p.Ile209Ser)
ClinVar gnomAD v4
11g.128839669A>GCA383244724KCNJ1c.575T>C (p.Ile192Thr)
c.632T>C (p.Ile211Thr)
c.626T>C (p.Ile209Thr)
11g.128839669A>TCA383244725KCNJ1c.575T>A (p.Ile192Asn)
c.632T>A (p.Ile211Asn)
c.626T>A (p.Ile209Asn)
11g.128839670T>ACA383244728KCNJ1c.574A>T (p.Ile192Phe)
c.631A>T (p.Ile211Phe)
c.625A>T (p.Ile209Phe)
11g.128839670T>CCA383244726KCNJ1c.574A>G (p.Ile192Val)
c.631A>G (p.Ile211Val)
c.625A>G (p.Ile209Val)
11g.128839670T>GCA383244727KCNJ1c.574A>C (p.Ile192Leu)
c.631A>C (p.Ile211Leu)
c.625A>C (p.Ile209Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839670T=CA2008250798KCNJ1c.574A= (p.Ile192=)
c.631A= (p.Ile211=)
c.625A= (p.Ile209=)
11g.128839671T>ACA477703285KCNJ1c.573A>T (p.Leu191=)
c.630A>T (p.Leu210=)
c.624A>T (p.Leu208=)
11g.128839671T>CCA477703286KCNJ1c.573A>G (p.Leu191=)
c.630A>G (p.Leu210=)
c.624A>G (p.Leu208=)
11g.128839671T>GCA477703287KCNJ1c.573A>C (p.Leu191=)
c.630A>C (p.Leu210=)
c.624A>C (p.Leu208=)
11g.128839672A>CCA383244729KCNJ1c.572T>G (p.Leu191Arg)
c.629T>G (p.Leu210Arg)
c.623T>G (p.Leu208Arg)
11g.128839672A>GCA383244730KCNJ1c.572T>C (p.Leu191Pro)
c.629T>C (p.Leu210Pro)
c.623T>C (p.Leu208Pro)
11g.128839672A>TCA383244731KCNJ1c.572T>A (p.Leu191Gln)
c.629T>A (p.Leu210Gln)
c.623T>A (p.Leu208Gln)
11g.128839673G>ACA477703288KCNJ1c.571C>T (p.Leu191=)
c.628C>T (p.Leu210=)
c.622C>T (p.Leu208=)
COSMIC
11g.128839673G>CCA383244732KCNJ1c.571C>G (p.Leu191Val)
c.628C>G (p.Leu210Val)
c.622C>G (p.Leu208Val)
11g.128839673G>TCA383244733KCNJ1c.571C>A (p.Leu191Ile)
c.628C>A (p.Leu210Ile)
c.622C>A (p.Leu208Ile)
11g.128839674G>ACA477703289KCNJ1c.570C>T (p.Leu190=)
c.627C>T (p.Leu209=)
c.621C>T (p.Leu207=)
gnomAD v4
11g.128839674G>CCA477703290KCNJ1c.570C>G (p.Leu190=)
c.627C>G (p.Leu209=)
c.621C>G (p.Leu207=)
dbSNP
11g.128839674G=CA2008250803KCNJ1c.570C= (p.Leu190=)
c.627C= (p.Leu209=)
c.621C= (p.Leu207=)
11g.128839674G>TCA477703291KCNJ1c.570C>A (p.Leu190=)
c.627C>A (p.Leu209=)
c.621C>A (p.Leu207=)
11g.128839675A>CCA383244734KCNJ1c.569T>G (p.Leu190Arg)
c.626T>G (p.Leu209Arg)
c.620T>G (p.Leu207Arg)
11g.128839675A>GCA383244736KCNJ1c.569T>C (p.Leu190Pro)
c.626T>C (p.Leu209Pro)
c.620T>C (p.Leu207Pro)
11g.128839675A>TCA383244735KCNJ1c.569T>A (p.Leu190His)
c.626T>A (p.Leu209His)
c.620T>A (p.Leu207His)
11g.128839676G>ACA6357494KCNJ1c.568C>T (p.Leu190Phe)
c.625C>T (p.Leu209Phe)
c.619C>T (p.Leu207Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839676G>CCA383244737KCNJ1c.568C>G (p.Leu190Val)
c.625C>G (p.Leu209Val)
c.619C>G (p.Leu207Val)
11g.128839676G=CA2008250818KCNJ1c.568C= (p.Leu190=)
c.625C= (p.Leu209=)
c.619C= (p.Leu207=)
11g.128839676G>TCA383244738KCNJ1c.568C>A (p.Leu190Ile)
c.625C>A (p.Leu209Ile)
c.619C>A (p.Leu207Ile)
COSMIC
11g.128839677G>ACA477703294KCNJ1c.567C>T (p.Cys189=)
c.624C>T (p.Cys208=)
c.618C>T (p.Cys206=)
dbSNP gnomAD v4
11g.128839677G>CCA383244739KCNJ1c.567C>G (p.Cys189Trp)
c.624C>G (p.Cys208Trp)
c.618C>G (p.Cys206Trp)
11g.128839677G=CA2008250824KCNJ1c.567C= (p.Cys189=)
c.624C= (p.Cys208=)
c.618C= (p.Cys206=)
11g.128839677G>TCA383244740KCNJ1c.567C>A (p.Cys189Ter)
c.624C>A (p.Cys208Ter)
c.618C>A (p.Cys206Ter)
11g.128839678C>ACA383244741KCNJ1c.566G>T (p.Cys189Phe)
c.623G>T (p.Cys208Phe)
c.617G>T (p.Cys206Phe)
11g.128839678C=CA2008250831KCNJ1c.566G= (p.Cys189=)
c.623G= (p.Cys208=)
c.617G= (p.Cys206=)
11g.128839678C>GCA383244742KCNJ1c.566G>C (p.Cys189Ser)
c.623G>C (p.Cys208Ser)
c.617G>C (p.Cys206Ser)
dbSNP gnomAD v2
11g.128839678C>TCA383244743KCNJ1c.566G>A (p.Cys189Tyr)
c.623G>A (p.Cys208Tyr)
c.617G>A (p.Cys206Tyr)
11g.128839679A>CCA383244744KCNJ1c.565T>G (p.Cys189Gly)
c.622T>G (p.Cys208Gly)
c.616T>G (p.Cys206Gly)
11g.128839679A>GCA383244745KCNJ1c.565T>C (p.Cys189Arg)
c.622T>C (p.Cys208Arg)
c.616T>C (p.Cys206Arg)
11g.128839679A>TCA383244746KCNJ1c.565T>A (p.Cys189Ser)
c.622T>A (p.Cys208Ser)
c.616T>A (p.Cys206Ser)
11g.128839680A>CCA477703295KCNJ1c.564T>G (p.Leu188=)
c.621T>G (p.Leu207=)
c.615T>G (p.Leu205=)
gnomAD v4
11g.128839680A>GCA477703296KCNJ1c.564T>C (p.Leu188=)
c.621T>C (p.Leu207=)
c.615T>C (p.Leu205=)
11g.128839680A>TCA477703297KCNJ1c.564T>A (p.Leu188=)
c.621T>A (p.Leu207=)
c.615T>A (p.Leu205=)
11g.128839681A>CCA383244747KCNJ1c.563T>G (p.Leu188Arg)
c.620T>G (p.Leu207Arg)
c.614T>G (p.Leu205Arg)
11g.128839681A>GCA383244749KCNJ1c.563T>C (p.Leu188Pro)
c.620T>C (p.Leu207Pro)
c.614T>C (p.Leu205Pro)
11g.128839681A>TCA383244748KCNJ1c.563T>A (p.Leu188His)
c.620T>A (p.Leu207His)
c.614T>A (p.Leu205His)
11g.128839682G>ACA383244750KCNJ1c.562C>T (p.Leu188Phe)
c.619C>T (p.Leu207Phe)
c.613C>T (p.Leu205Phe)
dbSNP gnomAD v4
11g.128839682G>CCA383244752KCNJ1c.562C>G (p.Leu188Val)
c.619C>G (p.Leu207Val)
c.613C>G (p.Leu205Val)
11g.128839682G=CA2008250835KCNJ1c.562C= (p.Leu188=)
c.619C= (p.Leu207=)
c.613C= (p.Leu205=)
11g.128839682G>TCA383244751KCNJ1c.562C>A (p.Leu188Ile)
c.619C>A (p.Leu207Ile)
c.613C>A (p.Leu205Ile)
dbSNP
11g.128839683C>ACA6357496KCNJ1c.561G>T (p.Lys187Asn)
c.618G>T (p.Lys206Asn)
c.612G>T (p.Lys204Asn)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839683C=CA2008250843KCNJ1c.561G= (p.Lys187=)
c.618G= (p.Lys206=)
c.612G= (p.Lys204=)
11g.128839683C>GCA383244753KCNJ1c.561G>C (p.Lys187Asn)
c.618G>C (p.Lys206Asn)
c.612G>C (p.Lys204Asn)
11g.128839683C>TCA6357495KCNJ1c.561G>A (p.Lys187=)
c.618G>A (p.Lys206=)
c.612G>A (p.Lys204=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839684T>ACA383244754KCNJ1c.560A>T (p.Lys187Met)
c.617A>T (p.Lys206Met)
c.611A>T (p.Lys204Met)
11g.128839684T>CCA383244755KCNJ1c.560A>G (p.Lys187Arg)
c.617A>G (p.Lys206Arg)
c.611A>G (p.Lys204Arg)
11g.128839684T>GCA383244756KCNJ1c.560A>C (p.Lys187Thr)
c.617A>C (p.Lys206Thr)
c.611A>C (p.Lys204Thr)
11g.128839685T>ACA383244757KCNJ1c.559A>T (p.Lys187Ter)
c.616A>T (p.Lys206Ter)
c.610A>T (p.Lys204Ter)
11g.128839685T>CCA383244758KCNJ1c.559A>G (p.Lys187Glu)
c.616A>G (p.Lys206Glu)
c.610A>G (p.Lys204Glu)
11g.128839685T>GCA383244759KCNJ1c.559A>C (p.Lys187Gln)
c.616A>C (p.Lys206Gln)
c.610A>C (p.Lys204Gln)
11g.128839686C>ACA477703301KCNJ1c.558G>T (p.Gly186=)
c.615G>T (p.Gly205=)
c.609G>T (p.Gly203=)
11g.128839686C>GCA477703299KCNJ1c.558G>C (p.Gly186=)
c.615G>C (p.Gly205=)
c.609G>C (p.Gly203=)
11g.128839686C>TCA477703300KCNJ1c.558G>A (p.Gly186=)
c.615G>A (p.Gly205=)
c.609G>A (p.Gly203=)
11g.128839686_128839687insTGAAGACCACAGTCA2539254176KCNJ1c.557_558insACTGTGGTCTTCA (p.Lys187LeufsTer14)
c.614_615insACTGTGGTCTTCA (p.Lys206LeufsTer14)
c.608_609insACTGTGGTCTTCA (p.Lys204LeufsTer14)
11g.128839687C>ACA383244760KCNJ1c.557G>T (p.Gly186Val)
c.614G>T (p.Gly205Val)
c.608G>T (p.Gly203Val)
gnomAD v4
11g.128839687C>GCA383244761KCNJ1c.557G>C (p.Gly186Ala)
c.614G>C (p.Gly205Ala)
c.608G>C (p.Gly203Ala)
11g.128839687C>TCA383244762KCNJ1c.557G>A (p.Gly186Glu)
c.614G>A (p.Gly205Glu)
c.608G>A (p.Gly203Glu)
11g.128839688C>ACA383244765KCNJ1c.556G>T (p.Gly186Trp)
c.613G>T (p.Gly205Trp)
c.607G>T (p.Gly203Trp)
dbSNP
11g.128839688C=CA2008250844KCNJ1c.556G= (p.Gly186=)
c.613G= (p.Gly205=)
c.607G= (p.Gly203=)
11g.128839688C>GCA383244763KCNJ1c.556G>C (p.Gly186Arg)
c.613G>C (p.Gly205Arg)
c.607G>C (p.Gly203Arg)
11g.128839688C>TCA383244764KCNJ1c.556G>A (p.Gly186Arg)
c.613G>A (p.Gly205Arg)
c.607G>A (p.Gly203Arg)
dbSNP gnomAD v2 gnomAD v4
11g.128839689T>ACA477703302KCNJ1c.555A>T (p.Gly185=)
c.612A>T (p.Gly204=)
c.606A>T (p.Gly202=)
dbSNP
11g.128839689T>CCA477703303KCNJ1c.555A>G (p.Gly185=)
c.612A>G (p.Gly204=)
c.606A>G (p.Gly202=)
11g.128839689T>GCA477703304KCNJ1c.555A>C (p.Gly185=)
c.612A>C (p.Gly204=)
c.606A>C (p.Gly202=)
11g.128839690C>ACA383244766KCNJ1c.554G>T (p.Gly185Val)
c.611G>T (p.Gly204Val)
c.605G>T (p.Gly202Val)
dbSNP
11g.128839690C=CA2008250849KCNJ1c.554G= (p.Gly185=)
c.611G= (p.Gly204=)
c.605G= (p.Gly202=)
11g.128839690C>GCA383244767KCNJ1c.554G>C (p.Gly185Ala)
c.611G>C (p.Gly204Ala)
c.605G>C (p.Gly202Ala)
11g.128839690C>TCA383244768KCNJ1c.554G>A (p.Gly185Glu)
c.611G>A (p.Gly204Glu)
c.605G>A (p.Gly202Glu)
gnomAD v4
11g.128839691C>ACA383244769KCNJ1c.553G>T (p.Gly185Ter)
c.610G>T (p.Gly204Ter)
c.604G>T (p.Gly202Ter)
gnomAD v4
11g.128839691C>GCA383244770KCNJ1c.553G>C (p.Gly185Arg)
c.610G>C (p.Gly204Arg)
c.604G>C (p.Gly202Arg)
11g.128839691C>TCA383244771KCNJ1c.553G>A (p.Gly185Arg)
c.610G>A (p.Gly204Arg)
c.604G>A (p.Gly202Arg)
11g.128839692C>ACA230628505KCNJ1c.552G>T (p.Arg184=)
c.609G>T (p.Arg203=)
c.603G>T (p.Arg201=)
dbSNP
11g.128839692C=CA2008250852KCNJ1c.552G= (p.Arg184=)
c.609G= (p.Arg203=)
c.603G= (p.Arg201=)
11g.128839692C>GCA477703305KCNJ1c.552G>C (p.Arg184=)
c.609G>C (p.Arg203=)
c.603G>C (p.Arg201=)
11g.128839692C>TCA477703306KCNJ1c.552G>A (p.Arg184=)
c.609G>A (p.Arg203=)
c.603G>A (p.Arg201=)
11g.128839693C>ACA383244772KCNJ1c.551G>T (p.Arg184Leu)
c.608G>T (p.Arg203Leu)
c.602G>T (p.Arg201Leu)
11g.128839693C=CA2008250861KCNJ1c.551G= (p.Arg184=)
c.608G= (p.Arg203=)
c.602G= (p.Arg201=)
11g.128839693C>GCA383244773KCNJ1c.551G>C (p.Arg184Pro)
c.608G>C (p.Arg203Pro)
c.602G>C (p.Arg201Pro)
dbSNP gnomAD v3 gnomAD v4
11g.128839693C>TCA383244774KCNJ1c.551G>A (p.Arg184Gln)
c.608G>A (p.Arg203Gln)
c.602G>A (p.Arg201Gln)
ClinVar dbSNP gnomAD v4
11g.128839693_128839694delinsCGCA2008250860KCNJ1c.550_551delinsCG (p.Arg184=)
c.607_608delinsCG (p.Arg203=)
c.601_602delinsCG (p.Arg201=)
11g.128839694delCA2008250866KCNJ1c.550del (p.Arg184GlyfsTer8)
c.607del (p.Arg203GlyfsTer8)
c.601del (p.Arg201GlyfsTer8)
dbSNP gnomAD v4
11g.128839694G>ACA6357497KCNJ1c.550C>T (p.Arg184Trp)
c.607C>T (p.Arg203Trp)
c.601C>T (p.Arg201Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839694G>CCA230628508KCNJ1c.550C>G (p.Arg184Gly)
c.607C>G (p.Arg203Gly)
c.601C>G (p.Arg201Gly)
dbSNP
11g.128839694G=CA2008250867KCNJ1c.550C= (p.Arg184=)
c.607C= (p.Arg203=)
c.601C= (p.Arg201=)
11g.128839694G>TCA477703308KCNJ1c.550C>A (p.Arg184=)
c.607C>A (p.Arg203=)
c.601C>A (p.Arg201=)
11g.128839695T>ACA383244775KCNJ1c.549A>T (p.Lys183Asn)
c.606A>T (p.Lys202Asn)
c.600A>T (p.Lys200Asn)
11g.128839695T>CCA477703309KCNJ1c.549A>G (p.Lys183=)
c.606A>G (p.Lys202=)
c.600A>G (p.Lys200=)
dbSNP gnomAD v2
11g.128839695T>GCA383244776KCNJ1c.549A>C (p.Lys183Asn)
c.606A>C (p.Lys202Asn)
c.600A>C (p.Lys200Asn)
11g.128839695T=CA2008250873KCNJ1c.549A= (p.Lys183=)
c.606A= (p.Lys202=)
c.600A= (p.Lys200=)
11g.128839696T>ACA383244777KCNJ1c.548A>T (p.Lys183Ile)
c.605A>T (p.Lys202Ile)
c.599A>T (p.Lys200Ile)
11g.128839696T>CCA383244778KCNJ1c.548A>G (p.Lys183Arg)
c.605A>G (p.Lys202Arg)
c.599A>G (p.Lys200Arg)
11g.128839696T>GCA383244779KCNJ1c.548A>C (p.Lys183Thr)
c.605A>C (p.Lys202Thr)
c.599A>C (p.Lys200Thr)
11g.128839697T>ACA383244780KCNJ1c.547A>T (p.Lys183Ter)
c.604A>T (p.Lys202Ter)
c.598A>T (p.Lys200Ter)
11g.128839697T>CCA6357498KCNJ1c.547A>G (p.Lys183Glu)
c.604A>G (p.Lys202Glu)
c.598A>G (p.Lys200Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839697T>GCA383244781KCNJ1c.547A>C (p.Lys183Gln)
c.604A>C (p.Lys202Gln)
c.598A>C (p.Lys200Gln)
11g.128839697T=CA2008250879KCNJ1c.547A= (p.Lys183=)
c.604A= (p.Lys202=)
c.598A= (p.Lys200=)
11g.128839698G>ACA477703311KCNJ1c.546C>T (p.Ser182=)
c.603C>T (p.Ser201=)
c.597C>T (p.Ser199=)
11g.128839698G>CCA383244782KCNJ1c.546C>G (p.Ser182Arg)
c.603C>G (p.Ser201Arg)
c.597C>G (p.Ser199Arg)
11g.128839698G>TCA383244783KCNJ1c.546C>A (p.Ser182Arg)
c.603C>A (p.Ser201Arg)
c.597C>A (p.Ser199Arg)
11g.128839699C>ACA383244784KCNJ1c.545G>T (p.Ser182Ile)
c.602G>T (p.Ser201Ile)
c.596G>T (p.Ser199Ile)
11g.128839699C>GCA383244785KCNJ1c.545G>C (p.Ser182Thr)
c.602G>C (p.Ser201Thr)
c.596G>C (p.Ser199Thr)
11g.128839699C>TCA383244786KCNJ1c.545G>A (p.Ser182Asn)
c.602G>A (p.Ser201Asn)
c.596G>A (p.Ser199Asn)
11g.128839700T>ACA383244787KCNJ1c.544A>T (p.Ser182Cys)
c.601A>T (p.Ser201Cys)
c.595A>T (p.Ser199Cys)
11g.128839700T>CCA383244788KCNJ1c.544A>G (p.Ser182Gly)
c.601A>G (p.Ser201Gly)
c.595A>G (p.Ser199Gly)
gnomAD v4
11g.128839700T>GCA383244789KCNJ1c.544A>C (p.Ser182Arg)
c.601A>C (p.Ser201Arg)
c.595A>C (p.Ser199Arg)
11g.128839701G>ACA477703312KCNJ1c.543C>T (p.Ile181=)
c.600C>T (p.Ile200=)
c.594C>T (p.Ile198=)
11g.128839701G>CCA383244790KCNJ1c.543C>G (p.Ile181Met)
c.600C>G (p.Ile200Met)
c.594C>G (p.Ile198Met)
11g.128839701G>TCA477703313KCNJ1c.543C>A (p.Ile181=)
c.600C>A (p.Ile200=)
c.594C>A (p.Ile198=)
11g.128839702A>CCA383244791KCNJ1c.542T>G (p.Ile181Ser)
c.599T>G (p.Ile200Ser)
c.593T>G (p.Ile198Ser)
11g.128839702A>GCA383244792KCNJ1c.542T>C (p.Ile181Thr)
c.599T>C (p.Ile200Thr)
c.593T>C (p.Ile198Thr)
11g.128839702A>TCA383244793KCNJ1c.542T>A (p.Ile181Asn)
c.599T>A (p.Ile200Asn)
c.593T>A (p.Ile198Asn)
11g.128839703T>ACA383244794KCNJ1c.541A>T (p.Ile181Phe)
c.598A>T (p.Ile200Phe)
c.592A>T (p.Ile198Phe)
11g.128839703T>CCA383244795KCNJ1c.541A>G (p.Ile181Val)
c.598A>G (p.Ile200Val)
c.592A>G (p.Ile198Val)
gnomAD v4
11g.128839703T>GCA383244796KCNJ1c.541A>C (p.Ile181Leu)
c.598A>C (p.Ile200Leu)
c.592A>C (p.Ile198Leu)
11g.128839704C>ACA477703314KCNJ1c.540G>T (p.Val180=)
c.597G>T (p.Val199=)
c.591G>T (p.Val197=)
11g.128839704C=CA2008250884KCNJ1c.540G= (p.Val180=)
c.597G= (p.Val199=)
c.591G= (p.Val197=)
11g.128839704C>GCA477703315KCNJ1c.540G>C (p.Val180=)
c.597G>C (p.Val199=)
c.591G>C (p.Val197=)
11g.128839704C>TCA477703316KCNJ1c.540G>A (p.Val180=)
c.597G>A (p.Val199=)
c.591G>A (p.Val197=)
ClinVar dbSNP gnomAD v4
11g.128839705A>CCA383244797KCNJ1c.539T>G (p.Val180Gly)
c.596T>G (p.Val199Gly)
c.590T>G (p.Val197Gly)
gnomAD v4
11g.128839705A>GCA383244798KCNJ1c.539T>C (p.Val180Ala)
c.596T>C (p.Val199Ala)
c.590T>C (p.Val197Ala)
gnomAD v4
11g.128839705A>TCA383244799KCNJ1c.539T>A (p.Val180Glu)
c.596T>A (p.Val199Glu)
c.590T>A (p.Val197Glu)
11g.128839706C>ACA383244800KCNJ1c.538G>T (p.Val180Leu)
c.595G>T (p.Val199Leu)
c.589G>T (p.Val197Leu)
11g.128839706C>GCA383244801KCNJ1c.538G>C (p.Val180Leu)
c.595G>C (p.Val199Leu)
c.589G>C (p.Val197Leu)
11g.128839706C>TCA383244802KCNJ1c.538G>A (p.Val180Met)
c.595G>A (p.Val199Met)
c.589G>A (p.Val197Met)

Number of alleles fetched