Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839345_128839346delCA2825002002KCNJ1c.899_900del (p.Val300AlafsTer24)
c.956_957del (p.Val319AlafsTer24)
c.950_951del (p.Val317AlafsTer24)
 ClinVar
11g.128839346C>ACA6357426KCNJ1c.898G>T (p.Val300Leu)
c.955G>T (p.Val319Leu)
c.949G>T (p.Val317Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839346C=CA2008286362KCNJ1c.898G= (p.Val300=)
c.955G= (p.Val319=)
c.949G= (p.Val317=)
11g.128839346C>GCA383243373KCNJ1c.898G>C (p.Val300Leu)
c.955G>C (p.Val319Leu)
c.949G>C (p.Val317Leu)
11g.128839346C>TCA383243372KCNJ1c.898G>A (p.Val300Met)
c.955G>A (p.Val319Met)
c.949G>A (p.Val317Met)
11g.128839347delCA2794083164KCNJ1c.898del (p.Val300CysfsTer10)
c.955del (p.Val319CysfsTer10)
c.949del (p.Val317CysfsTer10)
11g.128839347C>ACA6357427KCNJ1c.897G>T (p.Glu299Asp)
c.954G>T (p.Glu318Asp)
c.948G>T (p.Glu316Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839347C=CA2008286366KCNJ1c.897G= (p.Glu299=)
c.954G= (p.Glu318=)
c.948G= (p.Glu316=)
11g.128839347C>GCA383243374KCNJ1c.897G>C (p.Glu299Asp)
c.954G>C (p.Glu318Asp)
c.948G>C (p.Glu316Asp)
11g.128839347C>TCA477702954KCNJ1c.897G>A (p.Glu299=)
c.954G>A (p.Glu318=)
c.948G>A (p.Glu316=)
 gnomAD v4 COSMIC
11g.128839348T>ACA383243376KCNJ1c.896A>T (p.Glu299Val)
c.953A>T (p.Glu318Val)
c.947A>T (p.Glu316Val)
11g.128839348T>CCA383243378KCNJ1c.896A>G (p.Glu299Gly)
c.953A>G (p.Glu318Gly)
c.947A>G (p.Glu316Gly)
11g.128839348T>GCA383243380KCNJ1c.896A>C (p.Glu299Ala)
c.953A>C (p.Glu318Ala)
c.947A>C (p.Glu316Ala)
11g.128839349C>ACA6357428KCNJ1c.895G>T (p.Glu299Ter)
c.952G>T (p.Glu318Ter)
c.946G>T (p.Glu316Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839349C=CA2008286369KCNJ1c.895G= (p.Glu299=)
c.952G= (p.Glu318=)
c.946G= (p.Glu316=)
11g.128839349C>GCA383243384KCNJ1c.895G>C (p.Glu299Gln)
c.952G>C (p.Glu318Gln)
c.946G>C (p.Glu316Gln)
11g.128839349C>TCA383243385KCNJ1c.895G>A (p.Glu299Lys)
c.952G>A (p.Glu318Lys)
c.946G>A (p.Glu316Lys)
 COSMIC
11g.128839350delCA2616771378KCNJ1c.895del (p.Glu299ArgfsTer11)
c.952del (p.Glu318ArgfsTer11)
c.946del (p.Glu316ArgfsTer11)
 gnomAD v4
11g.128839350C>ACA383243387KCNJ1c.894G>T (p.Glu298Asp)
c.951G>T (p.Glu317Asp)
c.945G>T (p.Glu315Asp)
11g.128839350C>GCA383243389KCNJ1c.894G>C (p.Glu298Asp)
c.951G>C (p.Glu317Asp)
c.945G>C (p.Glu315Asp)
11g.128839350C>TCA477702955KCNJ1c.894G>A (p.Glu298=)
c.951G>A (p.Glu317=)
c.945G>A (p.Glu315=)
11g.128839351T>ACA383243391KCNJ1c.893A>T (p.Glu298Val)
c.950A>T (p.Glu317Val)
c.944A>T (p.Glu315Val)
11g.128839351T>CCA383243392KCNJ1c.893A>G (p.Glu298Gly)
c.950A>G (p.Glu317Gly)
c.944A>G (p.Glu315Gly)
11g.128839351T>GCA383243394KCNJ1c.893A>C (p.Glu298Ala)
c.950A>C (p.Glu317Ala)
c.944A>C (p.Glu315Ala)
11g.128839352C>ACA383243399KCNJ1c.892G>T (p.Glu298Ter)
c.949G>T (p.Glu317Ter)
c.943G>T (p.Glu315Ter)
11g.128839352C>GCA383243398KCNJ1c.892G>C (p.Glu298Gln)
c.949G>C (p.Glu317Gln)
c.943G>C (p.Glu315Gln)
11g.128839352C>TCA383243396KCNJ1c.892G>A (p.Glu298Lys)
c.949G>A (p.Glu317Lys)
c.943G>A (p.Glu315Lys)
11g.128839353_128839358delCA2616771379KCNJ1c.887_892del (p.Val296_Pro297del)
c.944_949del (p.Val315_Pro316del)
c.938_943del (p.Val313_Pro314del)
 gnomAD v4
11g.128839353T>ACA477702956KCNJ1c.891A>T (p.Pro297=)
c.948A>T (p.Pro316=)
c.942A>T (p.Pro314=)
11g.128839353T>CCA477702958KCNJ1c.891A>G (p.Pro297=)
c.948A>G (p.Pro316=)
c.942A>G (p.Pro314=)
11g.128839353T>GCA477702957KCNJ1c.891A>C (p.Pro297=)
c.948A>C (p.Pro316=)
c.942A>C (p.Pro314=)
11g.128839354G>ACA230627971KCNJ1c.890C>T (p.Pro297Leu)
c.947C>T (p.Pro316Leu)
c.941C>T (p.Pro314Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128839354G>CCA383243405KCNJ1c.890C>G (p.Pro297Arg)
c.947C>G (p.Pro316Arg)
c.941C>G (p.Pro314Arg)
11g.128839354G=CA2008286372KCNJ1c.890C= (p.Pro297=)
c.947C= (p.Pro316=)
c.941C= (p.Pro314=)
11g.128839354G>TCA383243407KCNJ1c.890C>A (p.Pro297Gln)
c.947C>A (p.Pro316Gln)
c.941C>A (p.Pro314Gln)
11g.128839356delCA2616771380KCNJ1c.890del (p.Pro297GlnfsTer13)
c.947del (p.Pro316GlnfsTer13)
c.941del (p.Pro314GlnfsTer13)
 gnomAD v4
11g.128839355G>ACA383243408KCNJ1c.889C>T (p.Pro297Ser)
c.946C>T (p.Pro316Ser)
c.940C>T (p.Pro314Ser)
 COSMIC
11g.128839355G>CCA383243410KCNJ1c.889C>G (p.Pro297Ala)
c.946C>G (p.Pro316Ala)
c.940C>G (p.Pro314Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.128839355G=CA2008286375KCNJ1c.889C= (p.Pro297=)
c.946C= (p.Pro316=)
c.940C= (p.Pro314=)
11g.128839355G>TCA383243412KCNJ1c.889C>A (p.Pro297Thr)
c.946C>A (p.Pro316Thr)
c.940C>A (p.Pro314Thr)
11g.128839356G>ACA6357429KCNJ1c.888C>T (p.Val296=)
c.945C>T (p.Val315=)
c.939C>T (p.Val313=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839356G>CCA477702960KCNJ1c.888C>G (p.Val296=)
c.945C>G (p.Val315=)
c.939C>G (p.Val313=)
11g.128839356G=CA2008286377KCNJ1c.888C= (p.Val296=)
c.945C= (p.Val315=)
c.939C= (p.Val313=)
11g.128839356G>TCA477702961KCNJ1c.888C>A (p.Val296=)
c.945C>A (p.Val315=)
c.939C>A (p.Val313=)
 COSMIC
11g.128839357A=CA2008286379KCNJ1c.887T= (p.Val296=)
c.944T= (p.Val315=)
c.938T= (p.Val313=)
11g.128839357A>CCA6357430KCNJ1c.887T>G (p.Val296Gly)
c.944T>G (p.Val315Gly)
c.938T>G (p.Val313Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839357A>GCA383243417KCNJ1c.887T>C (p.Val296Ala)
c.944T>C (p.Val315Ala)
c.938T>C (p.Val313Ala)
11g.128839357A>TCA383243419KCNJ1c.887T>A (p.Val296Asp)
c.944T>A (p.Val315Asp)
c.938T>A (p.Val313Asp)
11g.128839358C>ACA383243421KCNJ1c.886G>T (p.Val296Phe)
c.943G>T (p.Val315Phe)
c.937G>T (p.Val313Phe)
 dbSNP
11g.128839358C=CA2008286381KCNJ1c.886G= (p.Val296=)
c.943G= (p.Val315=)
c.937G= (p.Val313=)
11g.128839358C>GCA383243423KCNJ1c.886G>C (p.Val296Leu)
c.943G>C (p.Val315Leu)
c.937G>C (p.Val313Leu)
11g.128839358C>TCA383243425KCNJ1c.886G>A (p.Val296Ile)
c.943G>A (p.Val315Ile)
c.937G>A (p.Val313Ile)
11g.128839359A=CA2008286384KCNJ1c.885T= (p.Tyr295=)
c.942T= (p.Tyr314=)
c.936T= (p.Tyr312=)
11g.128839359A>CCA383243426KCNJ1c.885T>G (p.Tyr295Ter)
c.942T>G (p.Tyr314Ter)
c.936T>G (p.Tyr312Ter)
11g.128839359A>GCA477702962KCNJ1c.885T>C (p.Tyr295=)
c.942T>C (p.Tyr314=)
c.936T>C (p.Tyr312=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839359A>TCA383243430KCNJ1c.885T>A (p.Tyr295Ter)
c.942T>A (p.Tyr314Ter)
c.936T>A (p.Tyr312Ter)
11g.128839360T>ACA383243431KCNJ1c.884A>T (p.Tyr295Phe)
c.941A>T (p.Tyr314Phe)
c.935A>T (p.Tyr312Phe)
 gnomAD v4
11g.128839360T>CCA6357431KCNJ1c.884A>G (p.Tyr295Cys)
c.941A>G (p.Tyr314Cys)
c.935A>G (p.Tyr312Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839360T>GCA383243432KCNJ1c.884A>C (p.Tyr295Ser)
c.941A>C (p.Tyr314Ser)
c.935A>C (p.Tyr312Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.128839360T=CA2008286388KCNJ1c.884A= (p.Tyr295=)
c.941A= (p.Tyr314=)
c.935A= (p.Tyr312=)
11g.128839361A>CCA383243436KCNJ1c.883T>G (p.Tyr295Asp)
c.940T>G (p.Tyr314Asp)
c.934T>G (p.Tyr312Asp)
11g.128839361A>GCA383243437KCNJ1c.883T>C (p.Tyr295His)
c.940T>C (p.Tyr314His)
c.934T>C (p.Tyr312His)
11g.128839361A>TCA383243439KCNJ1c.883T>A (p.Tyr295Asn)
c.940T>A (p.Tyr314Asn)
c.934T>A (p.Tyr312Asn)
 gnomAD v4
11g.128839362G>ACA230628031KCNJ1c.882C>T (p.Ser294=)
c.939C>T (p.Ser313=)
c.933C>T (p.Ser311=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839362G>CCA477702965KCNJ1c.882C>G (p.Ser294=)
c.939C>G (p.Ser313=)
c.933C>G (p.Ser311=)
 gnomAD v4
11g.128839362G=CA2008286391KCNJ1c.882C= (p.Ser294=)
c.939C= (p.Ser313=)
c.933C= (p.Ser311=)
11g.128839362G>TCA477702966KCNJ1c.882C>A (p.Ser294=)
c.939C>A (p.Ser313=)
c.933C>A (p.Ser311=)
11g.128839363G>ACA383243440KCNJ1c.881C>T (p.Ser294Phe)
c.938C>T (p.Ser313Phe)
c.932C>T (p.Ser311Phe)
 dbSNP gnomAD v2 COSMIC
11g.128839363G>CCA383243441KCNJ1c.881C>G (p.Ser294Cys)
c.938C>G (p.Ser313Cys)
c.932C>G (p.Ser311Cys)
11g.128839363G=CA2008286393KCNJ1c.881C= (p.Ser294=)
c.938C= (p.Ser313=)
c.932C= (p.Ser311=)
11g.128839363G>TCA383243442KCNJ1c.881C>A (p.Ser294Tyr)
c.938C>A (p.Ser313Tyr)
c.932C>A (p.Ser311Tyr)
11g.128839364A>CCA383243445KCNJ1c.880T>G (p.Ser294Ala)
c.937T>G (p.Ser313Ala)
c.931T>G (p.Ser311Ala)
11g.128839364A>GCA383243446KCNJ1c.880T>C (p.Ser294Pro)
c.937T>C (p.Ser313Pro)
c.931T>C (p.Ser311Pro)
11g.128839364A>TCA383243447KCNJ1c.880T>A (p.Ser294Thr)
c.937T>A (p.Ser313Thr)
c.931T>A (p.Ser311Thr)
 ClinVar
11g.128839365T>ACA477702968KCNJ1c.879A>T (p.Thr293=)
c.936A>T (p.Thr312=)
c.930A>T (p.Thr310=)
11g.128839365T>CCA477702969KCNJ1c.879A>G (p.Thr293=)
c.936A>G (p.Thr312=)
c.930A>G (p.Thr310=)
11g.128839365T>GCA477702970KCNJ1c.879A>C (p.Thr293=)
c.936A>C (p.Thr312=)
c.930A>C (p.Thr310=)
11g.128839366G>ACA383243448KCNJ1c.878C>T (p.Thr293Ile)
c.935C>T (p.Thr312Ile)
c.929C>T (p.Thr310Ile)
 gnomAD v4
11g.128839366G>CCA383243450KCNJ1c.878C>G (p.Thr293Arg)
c.935C>G (p.Thr312Arg)
c.929C>G (p.Thr310Arg)
11g.128839366G>TCA383243452KCNJ1c.878C>A (p.Thr293Lys)
c.935C>A (p.Thr312Lys)
c.929C>A (p.Thr310Lys)
11g.128839367T>ACA383243457KCNJ1c.877A>T (p.Thr293Ser)
c.934A>T (p.Thr312Ser)
c.928A>T (p.Thr310Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.128839367T>CCA6357432KCNJ1c.877A>G (p.Thr293Ala)
c.934A>G (p.Thr312Ala)
c.928A>G (p.Thr310Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839367T>GCA383243455KCNJ1c.877A>C (p.Thr293Pro)
c.934A>C (p.Thr312Pro)
c.928A>C (p.Thr310Pro)
11g.128839367T=CA2008286396KCNJ1c.877A= (p.Thr293=)
c.934A= (p.Thr312=)
c.928A= (p.Thr310=)
11g.128839368C>ACA477702973KCNJ1c.876G>T (p.Arg292=)
c.933G>T (p.Arg311=)
c.927G>T (p.Arg309=)
 gnomAD v4
11g.128839368C=CA2008286401KCNJ1c.876G= (p.Arg292=)
c.933G= (p.Arg311=)
c.927G= (p.Arg309=)
11g.128839368C>GCA477702974KCNJ1c.876G>C (p.Arg292=)
c.933G>C (p.Arg311=)
c.927G>C (p.Arg309=)
11g.128839368C>TCA6357433KCNJ1c.876G>A (p.Arg292=)
c.933G>A (p.Arg311=)
c.927G>A (p.Arg309=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839369C>ACA383243460KCNJ1c.875G>T (p.Arg292Leu)
c.932G>T (p.Arg311Leu)
c.926G>T (p.Arg309Leu)
11g.128839369C=CA2008286404KCNJ1c.875G= (p.Arg292=)
c.932G= (p.Arg311=)
c.926G= (p.Arg309=)
11g.128839369C>GCA383243464KCNJ1c.875G>C (p.Arg292Pro)
c.932G>C (p.Arg311Pro)
c.926G>C (p.Arg309Pro)
11g.128839369C>TCA6357434KCNJ1c.875G>A (p.Arg292Gln)
c.932G>A (p.Arg311Gln)
c.926G>A (p.Arg309Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839370G>ACA6357435KCNJ1c.874C>T (p.Arg292Trp)
c.931C>T (p.Arg311Trp)
c.925C>T (p.Arg309Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839370G>CCA383243468KCNJ1c.874C>G (p.Arg292Gly)
c.931C>G (p.Arg311Gly)
c.925C>G (p.Arg309Gly)
11g.128839370G=CA2008286406KCNJ1c.874C= (p.Arg292=)
c.931C= (p.Arg311=)
c.925C= (p.Arg309=)
11g.128839370G>TCA477702976KCNJ1c.874C>A (p.Arg292=)
c.931C>A (p.Arg311=)
c.925C>A (p.Arg309=)
 COSMIC
11g.128839371G>ACA477702977KCNJ1c.873C>T (p.Val291=)
c.930C>T (p.Val310=)
c.924C>T (p.Val308=)
 gnomAD v4
11g.128839371G>CCA477702978KCNJ1c.873C>G (p.Val291=)
c.930C>G (p.Val310=)
c.924C>G (p.Val308=)
11g.128839371G>TCA477702979KCNJ1c.873C>A (p.Val291=)
c.930C>A (p.Val310=)
c.924C>A (p.Val308=)
11g.128839372A>CCA383243469KCNJ1c.872T>G (p.Val291Gly)
c.929T>G (p.Val310Gly)
c.923T>G (p.Val308Gly)
11g.128839372A>GCA383243471KCNJ1c.872T>C (p.Val291Ala)
c.929T>C (p.Val310Ala)
c.923T>C (p.Val308Ala)
11g.128839372A>TCA383243473KCNJ1c.872T>A (p.Val291Asp)
c.929T>A (p.Val310Asp)
c.923T>A (p.Val308Asp)
11g.128839373C>ACA383243477KCNJ1c.871G>T (p.Val291Phe)
c.928G>T (p.Val310Phe)
c.922G>T (p.Val308Phe)
11g.128839373C>GCA383243479KCNJ1c.871G>C (p.Val291Leu)
c.928G>C (p.Val310Leu)
c.922G>C (p.Val308Leu)
11g.128839373C>TCA383243480KCNJ1c.871G>A (p.Val291Ile)
c.928G>A (p.Val310Ile)
c.922G>A (p.Val308Ile)
11g.128839374T>ACA383243481KCNJ1c.870A>T (p.Gln290His)
c.927A>T (p.Gln309His)
c.921A>T (p.Gln307His)
11g.128839374T>CCA477702980KCNJ1c.870A>G (p.Gln290=)
c.927A>G (p.Gln309=)
c.921A>G (p.Gln307=)
11g.128839374T>GCA383243483KCNJ1c.870A>C (p.Gln290His)
c.927A>C (p.Gln309His)
c.921A>C (p.Gln307His)
11g.128839375T>ACA383243488KCNJ1c.869A>T (p.Gln290Leu)
c.926A>T (p.Gln309Leu)
c.920A>T (p.Gln307Leu)
11g.128839375T>CCA383243490KCNJ1c.869A>G (p.Gln290Arg)
c.926A>G (p.Gln309Arg)
c.920A>G (p.Gln307Arg)
11g.128839375T>GCA383243491KCNJ1c.869A>C (p.Gln290Pro)
c.926A>C (p.Gln309Pro)
c.920A>C (p.Gln307Pro)
11g.128839376G>ACA383243493KCNJ1c.868C>T (p.Gln290Ter)
c.925C>T (p.Gln309Ter)
c.919C>T (p.Gln307Ter)
 gnomAD v4
11g.128839376G>CCA383243495KCNJ1c.868C>G (p.Gln290Glu)
c.925C>G (p.Gln309Glu)
c.919C>G (p.Gln307Glu)
11g.128839376G>TCA383243497KCNJ1c.868C>A (p.Gln290Lys)
c.925C>A (p.Gln309Lys)
c.919C>A (p.Gln307Lys)
11g.128839377G>ACA477702981KCNJ1c.867C>T (p.Cys289=)
c.924C>T (p.Cys308=)
c.918C>T (p.Cys306=)
11g.128839377G>CCA383243500KCNJ1c.867C>G (p.Cys289Trp)
c.924C>G (p.Cys308Trp)
c.918C>G (p.Cys306Trp)
11g.128839377G=CA2008286411KCNJ1c.867C= (p.Cys289=)
c.924C= (p.Cys308=)
c.918C= (p.Cys306=)
11g.128839377G>TCA6357436KCNJ1c.867C>A (p.Cys289Ter)
c.924C>A (p.Cys308Ter)
c.918C>A (p.Cys306Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839378C>ACA383243502KCNJ1c.866G>T (p.Cys289Phe)
c.923G>T (p.Cys308Phe)
c.917G>T (p.Cys306Phe)
11g.128839378C>GCA383243503KCNJ1c.866G>C (p.Cys289Ser)
c.923G>C (p.Cys308Ser)
c.917G>C (p.Cys306Ser)
11g.128839378C>TCA383243504KCNJ1c.866G>A (p.Cys289Tyr)
c.923G>A (p.Cys308Tyr)
c.917G>A (p.Cys306Tyr)
 COSMIC
11g.128839379A>CCA383243505KCNJ1c.865T>G (p.Cys289Gly)
c.922T>G (p.Cys308Gly)
c.916T>G (p.Cys306Gly)
11g.128839379A>GCA383243506KCNJ1c.865T>C (p.Cys289Arg)
c.922T>C (p.Cys308Arg)
c.916T>C (p.Cys306Arg)
 gnomAD v4
11g.128839379A>TCA383243508KCNJ1c.865T>A (p.Cys289Ser)
c.922T>A (p.Cys308Ser)
c.916T>A (p.Cys306Ser)
11g.128839380G>ACA477702984KCNJ1c.864C>T (p.Thr288=)
c.921C>T (p.Thr307=)
c.915C>T (p.Thr305=)
11g.128839380G>CCA477702986KCNJ1c.864C>G (p.Thr288=)
c.921C>G (p.Thr307=)
c.915C>G (p.Thr305=)
11g.128839380G>TCA477702985KCNJ1c.864C>A (p.Thr288=)
c.921C>A (p.Thr307=)
c.915C>A (p.Thr305=)
11g.128839381G>ACA6357437KCNJ1c.863C>T (p.Thr288Ile)
c.920C>T (p.Thr307Ile)
c.914C>T (p.Thr305Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839381G>CCA383243511KCNJ1c.863C>G (p.Thr288Ser)
c.920C>G (p.Thr307Ser)
c.914C>G (p.Thr305Ser)
11g.128839381G=CA2008286415KCNJ1c.863C= (p.Thr288=)
c.920C= (p.Thr307=)
c.914C= (p.Thr305=)
11g.128839381G>TCA383243510KCNJ1c.863C>A (p.Thr288Asn)
c.920C>A (p.Thr307Asn)
c.914C>A (p.Thr305Asn)
11g.128839382T>ACA383243513KCNJ1c.862A>T (p.Thr288Ser)
c.919A>T (p.Thr307Ser)
c.913A>T (p.Thr305Ser)
11g.128839382T>CCA6357438KCNJ1c.862A>G (p.Thr288Ala)
c.919A>G (p.Thr307Ala)
c.913A>G (p.Thr305Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839382T>GCA383243516KCNJ1c.862A>C (p.Thr288Pro)
c.919A>C (p.Thr307Pro)
c.913A>C (p.Thr305Pro)
 dbSNP
11g.128839382T=CA2008286421KCNJ1c.862A= (p.Thr288=)
c.919A= (p.Thr307=)
c.913A= (p.Thr305=)
11g.128839383A>CCA477702990KCNJ1c.861T>G (p.Ala287=)
c.918T>G (p.Ala306=)
c.912T>G (p.Ala304=)
11g.128839383A>GCA477702991KCNJ1c.861T>C (p.Ala287=)
c.918T>C (p.Ala306=)
c.912T>C (p.Ala304=)
11g.128839383A>TCA477702992KCNJ1c.861T>A (p.Ala287=)
c.918T>A (p.Ala306=)
c.912T>A (p.Ala304=)
11g.128839384G>ACA6357439KCNJ1c.860C>T (p.Ala287Val)
c.917C>T (p.Ala306Val)
c.911C>T (p.Ala304Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839384G>CCA383243517KCNJ1c.860C>G (p.Ala287Gly)
c.917C>G (p.Ala306Gly)
c.911C>G (p.Ala304Gly)
11g.128839384G=CA2008286423KCNJ1c.860C= (p.Ala287=)
c.917C= (p.Ala306=)
c.911C= (p.Ala304=)
11g.128839384G>TCA383243519KCNJ1c.860C>A (p.Ala287Asp)
c.917C>A (p.Ala306Asp)
c.911C>A (p.Ala304Asp)
11g.128839385C>ACA383243520KCNJ1c.859G>T (p.Ala287Ser)
c.916G>T (p.Ala306Ser)
c.910G>T (p.Ala304Ser)
11g.128839385C=CA2008286427KCNJ1c.859G= (p.Ala287=)
c.916G= (p.Ala306=)
c.910G= (p.Ala304=)
11g.128839385C>GCA383243522KCNJ1c.859G>C (p.Ala287Pro)
c.916G>C (p.Ala306Pro)
c.910G>C (p.Ala304Pro)
11g.128839385C>TCA383243523KCNJ1c.859G>A (p.Ala287Thr)
c.916G>A (p.Ala306Thr)
c.910G>A (p.Ala304Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.128839386A>CCA383243524KCNJ1c.858T>G (p.Ser286Arg)
c.915T>G (p.Ser305Arg)
c.909T>G (p.Ser303Arg)
11g.128839386A>GCA477702995KCNJ1c.858T>C (p.Ser286=)
c.915T>C (p.Ser305=)
c.909T>C (p.Ser303=)
11g.128839386A>TCA383243526KCNJ1c.858T>A (p.Ser286Arg)
c.915T>A (p.Ser305Arg)
c.909T>A (p.Ser303Arg)
11g.128839387C>ACA383243527KCNJ1c.857G>T (p.Ser286Ile)
c.914G>T (p.Ser305Ile)
c.908G>T (p.Ser303Ile)
11g.128839387C>GCA383243530KCNJ1c.857G>C (p.Ser286Thr)
c.914G>C (p.Ser305Thr)
c.908G>C (p.Ser303Thr)
11g.128839387C>TCA383243529KCNJ1c.857G>A (p.Ser286Asn)
c.914G>A (p.Ser305Asn)
c.908G>A (p.Ser303Asn)
11g.128839388T>ACA230628072KCNJ1c.856A>T (p.Ser286Cys)
c.913A>T (p.Ser305Cys)
c.907A>T (p.Ser303Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.128839388T>CCA383243538KCNJ1c.856A>G (p.Ser286Gly)
c.913A>G (p.Ser305Gly)
c.907A>G (p.Ser303Gly)
11g.128839388T>GCA383243532KCNJ1c.856A>C (p.Ser286Arg)
c.913A>C (p.Ser305Arg)
c.907A>C (p.Ser303Arg)
11g.128839388T=CA2008286430KCNJ1c.856A= (p.Ser286=)
c.913A= (p.Ser305=)
c.907A= (p.Ser303=)
11g.128839389G>ACA477702998KCNJ1c.855C>T (p.Thr285=)
c.912C>T (p.Thr304=)
c.906C>T (p.Thr302=)
11g.128839389G>CCA477702999KCNJ1c.855C>G (p.Thr285=)
c.912C>G (p.Thr304=)
c.906C>G (p.Thr302=)
11g.128839389G>TCA477703000KCNJ1c.855C>A (p.Thr285=)
c.912C>A (p.Thr304=)
c.906C>A (p.Thr302=)
11g.128839390G>ACA383243540KCNJ1c.854C>T (p.Thr285Ile)
c.911C>T (p.Thr304Ile)
c.905C>T (p.Thr302Ile)
 gnomAD v4
11g.128839390G>CCA383243543KCNJ1c.854C>G (p.Thr285Ser)
c.911C>G (p.Thr304Ser)
c.905C>G (p.Thr302Ser)
11g.128839390G>TCA383243541KCNJ1c.854C>A (p.Thr285Asn)
c.911C>A (p.Thr304Asn)
c.905C>A (p.Thr302Asn)
11g.128839391T>ACA383243545KCNJ1c.853A>T (p.Thr285Ser)
c.910A>T (p.Thr304Ser)
c.904A>T (p.Thr302Ser)
11g.128839391T>CCA383243548KCNJ1c.853A>G (p.Thr285Ala)
c.910A>G (p.Thr304Ala)
c.904A>G (p.Thr302Ala)
11g.128839391T>GCA383243547KCNJ1c.853A>C (p.Thr285Pro)
c.910A>C (p.Thr304Pro)
c.904A>C (p.Thr302Pro)
 dbSNP
11g.128839391T=CA2008286432KCNJ1c.853A= (p.Thr285=)
c.910A= (p.Thr304=)
c.904A= (p.Thr302=)
11g.128839392G>ACA477703003KCNJ1c.852C>T (p.Ser284=)
c.909C>T (p.Ser303=)
c.903C>T (p.Ser301=)
11g.128839392G>CCA477703004KCNJ1c.852C>G (p.Ser284=)
c.909C>G (p.Ser303=)
c.903C>G (p.Ser301=)
11g.128839392G>TCA477703005KCNJ1c.852C>A (p.Ser284=)
c.909C>A (p.Ser303=)
c.903C>A (p.Ser301=)
11g.128839393G>ACA383243550KCNJ1c.851C>T (p.Ser284Phe)
c.908C>T (p.Ser303Phe)
c.902C>T (p.Ser301Phe)
 dbSNP
11g.128839393G>CCA383243551KCNJ1c.851C>G (p.Ser284Cys)
c.908C>G (p.Ser303Cys)
c.902C>G (p.Ser301Cys)
11g.128839393G=CA2008286435KCNJ1c.851C= (p.Ser284=)
c.908C= (p.Ser303=)
c.902C= (p.Ser301=)
11g.128839393G>TCA383243552KCNJ1c.851C>A (p.Ser284Tyr)
c.908C>A (p.Ser303Tyr)
c.902C>A (p.Ser301Tyr)
 gnomAD v4
11g.128839394A=CA2008286437KCNJ1c.850T= (p.Ser284=)
c.907T= (p.Ser303=)
c.901T= (p.Ser301=)
11g.128839394A>CCA383243554KCNJ1c.850T>G (p.Ser284Ala)
c.907T>G (p.Ser303Ala)
c.901T>G (p.Ser301Ala)
11g.128839394A>GCA383243556KCNJ1c.850T>C (p.Ser284Pro)
c.907T>C (p.Ser303Pro)
c.901T>C (p.Ser301Pro)
 dbSNP gnomAD v4
11g.128839394A>TCA383243558KCNJ1c.850T>A (p.Ser284Thr)
c.907T>A (p.Ser303Thr)
c.901T>A (p.Ser301Thr)
11g.128839395C>ACA383243560KCNJ1c.849G>T (p.Glu283Asp)
c.906G>T (p.Glu302Asp)
c.900G>T (p.Glu300Asp)
11g.128839395C=CA2008286439KCNJ1c.849G= (p.Glu283=)
c.906G= (p.Glu302=)
c.900G= (p.Glu300=)
11g.128839395C>GCA383243562KCNJ1c.849G>C (p.Glu283Asp)
c.906G>C (p.Glu302Asp)
c.900G>C (p.Glu300Asp)
11g.128839395C>TCA6357440KCNJ1c.849G>A (p.Glu283=)
c.906G>A (p.Glu302=)
c.900G>A (p.Glu300=)
 dbSNP ExAC gnomAD v4
11g.128839396T>ACA383243569KCNJ1c.848A>T (p.Glu283Val)
c.905A>T (p.Glu302Val)
c.899A>T (p.Glu300Val)
11g.128839396T>CCA383243567KCNJ1c.848A>G (p.Glu283Gly)
c.905A>G (p.Glu302Gly)
c.899A>G (p.Glu300Gly)
 ClinVar
11g.128839396T>GCA383243566KCNJ1c.848A>C (p.Glu283Ala)
c.905A>C (p.Glu302Ala)
c.899A>C (p.Glu300Ala)
11g.128839397C>ACA383243571KCNJ1c.847G>T (p.Glu283Ter)
c.904G>T (p.Glu302Ter)
c.898G>T (p.Glu300Ter)
11g.128839397C>GCA383243573KCNJ1c.847G>C (p.Glu283Gln)
c.904G>C (p.Glu302Gln)
c.898G>C (p.Glu300Gln)
11g.128839397C>TCA383243575KCNJ1c.847G>A (p.Glu283Lys)
c.904G>A (p.Glu302Lys)
c.898G>A (p.Glu300Lys)
 gnomAD v4
11g.128839398C>ACA477703008KCNJ1c.846G>T (p.Val282=)
c.903G>T (p.Val301=)
c.897G>T (p.Val299=)
11g.128839398C=CA2008286444KCNJ1c.846G= (p.Val282=)
c.903G= (p.Val301=)
c.897G= (p.Val299=)
11g.128839398C>GCA477703009KCNJ1c.846G>C (p.Val282=)
c.903G>C (p.Val301=)
c.897G>C (p.Val299=)
11g.128839398C>TCA230628073KCNJ1c.846G>A (p.Val282=)
c.903G>A (p.Val301=)
c.897G>A (p.Val299=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839399A>CCA383243577KCNJ1c.845T>G (p.Val282Gly)
c.902T>G (p.Val301Gly)
c.896T>G (p.Val299Gly)
 gnomAD v4
11g.128839399A>GCA383243578KCNJ1c.845T>C (p.Val282Ala)
c.902T>C (p.Val301Ala)
c.896T>C (p.Val299Ala)
 gnomAD v4
11g.128839399A>TCA383243580KCNJ1c.845T>A (p.Val282Glu)
c.902T>A (p.Val301Glu)
c.896T>A (p.Val299Glu)
11g.128839400C>ACA383243582KCNJ1c.844G>T (p.Val282Leu)
c.901G>T (p.Val301Leu)
c.895G>T (p.Val299Leu)
11g.128839400C=CA2008286445KCNJ1c.844G= (p.Val282=)
c.901G= (p.Val301=)
c.895G= (p.Val299=)
11g.128839400C>GCA383243583KCNJ1c.844G>C (p.Val282Leu)
c.901G>C (p.Val301Leu)
c.895G>C (p.Val299Leu)
11g.128839400C>TCA6357441KCNJ1c.844G>A (p.Val282Met)
c.901G>A (p.Val301Met)
c.895G>A (p.Val299Met)
 dbSNP ExAC gnomAD v2
11g.128839401T>ACA477703011KCNJ1c.843A>T (p.Thr281=)
c.900A>T (p.Thr300=)
c.894A>T (p.Thr298=)
11g.128839401T>CCA477703012KCNJ1c.843A>G (p.Thr281=)
c.900A>G (p.Thr300=)
c.894A>G (p.Thr298=)
 dbSNP
11g.128839401T>GCA477703013KCNJ1c.843A>C (p.Thr281=)
c.900A>C (p.Thr300=)
c.894A>C (p.Thr298=)
11g.128839401T=CA2008286447KCNJ1c.843A= (p.Thr281=)
c.900A= (p.Thr300=)
c.894A= (p.Thr298=)
11g.128839402G>ACA6357442KCNJ1c.842C>T (p.Thr281Ile)
c.899C>T (p.Thr300Ile)
c.893C>T (p.Thr298Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839402G>CCA383243594KCNJ1c.842C>G (p.Thr281Arg)
c.899C>G (p.Thr300Arg)
c.893C>G (p.Thr298Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839402G=CA2008286448KCNJ1c.842C= (p.Thr281=)
c.899C= (p.Thr300=)
c.893C= (p.Thr298=)
11g.128839402G>TCA383243588KCNJ1c.842C>A (p.Thr281Lys)
c.899C>A (p.Thr300Lys)
c.893C>A (p.Thr298Lys)
 gnomAD v4
11g.128839403T>ACA383243597KCNJ1c.841A>T (p.Thr281Ser)
c.898A>T (p.Thr300Ser)
c.892A>T (p.Thr298Ser)
11g.128839403T>CCA6357443KCNJ1c.841A>G (p.Thr281Ala)
c.898A>G (p.Thr300Ala)
c.892A>G (p.Thr298Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839403T>GCA383243602KCNJ1c.841A>C (p.Thr281Pro)
c.898A>C (p.Thr300Pro)
c.892A>C (p.Thr298Pro)
11g.128839403T=CA2008286454KCNJ1c.841A= (p.Thr281=)
c.898A= (p.Thr300=)
c.892A= (p.Thr298=)
11g.128839404G>ACA477702828KCNJ1c.840C>T (p.Gly280=)
c.897C>T (p.Gly299=)
c.891C>T (p.Gly297=)
11g.128839404G>CCA477702829KCNJ1c.840C>G (p.Gly280=)
c.897C>G (p.Gly299=)
c.891C>G (p.Gly297=)
11g.128839404G>TCA477702831KCNJ1c.840C>A (p.Gly280=)
c.897C>A (p.Gly299=)
c.891C>A (p.Gly297=)
11g.128839405C>ACA383243606KCNJ1c.839G>T (p.Gly280Val)
c.896G>T (p.Gly299Val)
c.890G>T (p.Gly297Val)
11g.128839405C>GCA383243608KCNJ1c.839G>C (p.Gly280Ala)
c.896G>C (p.Gly299Ala)
c.890G>C (p.Gly297Ala)
11g.128839405C>TCA383243611KCNJ1c.839G>A (p.Gly280Asp)
c.896G>A (p.Gly299Asp)
c.890G>A (p.Gly297Asp)
11g.128839406C>ACA383243615KCNJ1c.838G>T (p.Gly280Cys)
c.895G>T (p.Gly299Cys)
c.889G>T (p.Gly297Cys)
11g.128839406C=CA2008286456KCNJ1c.838G= (p.Gly280=)
c.895G= (p.Gly299=)
c.889G= (p.Gly297=)
11g.128839406C>GCA383243618KCNJ1c.838G>C (p.Gly280Arg)
c.895G>C (p.Gly299Arg)
c.889G>C (p.Gly297Arg)
11g.128839406C>TCA6357444KCNJ1c.838G>A (p.Gly280Ser)
c.895G>A (p.Gly299Ser)
c.889G>A (p.Gly297Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839407A=CA2008286460KCNJ1c.837T= (p.Asp279=)
c.894T= (p.Asp298=)
c.888T= (p.Asp296=)
11g.128839407A>CCA383243631KCNJ1c.837T>G (p.Asp279Glu)
c.894T>G (p.Asp298Glu)
c.888T>G (p.Asp296Glu)
11g.128839407A>GCA6357445KCNJ1c.837T>C (p.Asp279=)
c.894T>C (p.Asp298=)
c.888T>C (p.Asp296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839407A>TCA383243637KCNJ1c.837T>A (p.Asp279Glu)
c.894T>A (p.Asp298Glu)
c.888T>A (p.Asp296Glu)
11g.128839408T>ACA383243646KCNJ1c.836A>T (p.Asp279Val)
c.893A>T (p.Asp298Val)
c.887A>T (p.Asp296Val)
11g.128839408T>CCA383243640KCNJ1c.836A>G (p.Asp279Gly)
c.893A>G (p.Asp298Gly)
c.887A>G (p.Asp296Gly)
11g.128839408T>GCA383243644KCNJ1c.836A>C (p.Asp279Ala)
c.893A>C (p.Asp298Ala)
c.887A>C (p.Asp296Ala)
11g.128839409C>ACA383243651KCNJ1c.835G>T (p.Asp279Tyr)
c.892G>T (p.Asp298Tyr)
c.886G>T (p.Asp296Tyr)
11g.128839409C>GCA383243654KCNJ1c.835G>C (p.Asp279His)
c.892G>C (p.Asp298His)
c.886G>C (p.Asp296His)
11g.128839409C>TCA383243657KCNJ1c.835G>A (p.Asp279Asn)
c.892G>A (p.Asp298Asn)
c.886G>A (p.Asp296Asn)
11g.128839410delCA2741219565KCNJ1c.834del (p.Asp279MetfsTer?)
c.891del (p.Asp298MetfsTer?)
c.885del (p.Asp296MetfsTer?)
11g.128839410T>ACA383243661KCNJ1c.834A>T (p.Leu278Phe)
c.891A>T (p.Leu297Phe)
c.885A>T (p.Leu295Phe)
11g.128839410T>CCA477702834KCNJ1c.834A>G (p.Leu278=)
c.891A>G (p.Leu297=)
c.885A>G (p.Leu295=)
 dbSNP gnomAD v2 gnomAD v4
11g.128839410T>GCA383243663KCNJ1c.834A>C (p.Leu278Phe)
c.891A>C (p.Leu297Phe)
c.885A>C (p.Leu295Phe)
11g.128839410T=CA2008286463KCNJ1c.834A= (p.Leu278=)
c.891A= (p.Leu297=)
c.885A= (p.Leu295=)
11g.128839411A=CA2008286468KCNJ1c.833T= (p.Leu278=)
c.890T= (p.Leu297=)
c.884T= (p.Leu295=)
11g.128839411A>CCA383243665KCNJ1c.833T>G (p.Leu278Ter)
c.890T>G (p.Leu297Ter)
c.884T>G (p.Leu295Ter)
11g.128839411A>GCA383243666KCNJ1c.833T>C (p.Leu278Ser)
c.890T>C (p.Leu297Ser)
c.884T>C (p.Leu295Ser)
 dbSNP gnomAD v4
11g.128839411A>TCA383243670KCNJ1c.833T>A (p.Leu278Ter)
c.890T>A (p.Leu297Ter)
c.884T>A (p.Leu295Ter)
 dbSNP
11g.128839415delCA2616771381KCNJ1c.833del (p.Leu278Ter)
c.890del (p.Leu297Ter)
c.884del (p.Leu295Ter)
 gnomAD v4
11g.128839412A>CCA383243673KCNJ1c.832T>G (p.Leu278Val)
c.889T>G (p.Leu297Val)
c.883T>G (p.Leu295Val)
11g.128839412A>GCA477702837KCNJ1c.832T>C (p.Leu278=)
c.889T>C (p.Leu297=)
c.883T>C (p.Leu295=)
11g.128839412A>TCA383243676KCNJ1c.832T>A (p.Leu278Ile)
c.889T>A (p.Leu297Ile)
c.883T>A (p.Leu295Ile)
11g.128839413A=CA2008286473KCNJ1c.831T= (p.Phe277=)
c.888T= (p.Phe296=)
c.882T= (p.Phe294=)
11g.128839413A>CCA383243685KCNJ1c.831T>G (p.Phe277Leu)
c.888T>G (p.Phe296Leu)
c.882T>G (p.Phe294Leu)
11g.128839413A>GCA477702838KCNJ1c.831T>C (p.Phe277=)
c.888T>C (p.Phe296=)
c.882T>C (p.Phe294=)
11g.128839413A>TCA6357446KCNJ1c.831T>A (p.Phe277Leu)
c.888T>A (p.Phe296Leu)
c.882T>A (p.Phe294Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839414A>CCA383243695KCNJ1c.830T>G (p.Phe277Cys)
c.887T>G (p.Phe296Cys)
c.881T>G (p.Phe294Cys)
11g.128839414A>GCA383243697KCNJ1c.830T>C (p.Phe277Ser)
c.887T>C (p.Phe296Ser)
c.881T>C (p.Phe294Ser)
11g.128839414A>TCA383243692KCNJ1c.830T>A (p.Phe277Tyr)
c.887T>A (p.Phe296Tyr)
c.881T>A (p.Phe294Tyr)
11g.128839415A>CCA383243712KCNJ1c.829T>G (p.Phe277Val)
c.886T>G (p.Phe296Val)
c.880T>G (p.Phe294Val)
11g.128839415A>GCA383243700KCNJ1c.829T>C (p.Phe277Leu)
c.886T>C (p.Phe296Leu)
c.880T>C (p.Phe294Leu)
11g.128839415A>TCA383243703KCNJ1c.829T>A (p.Phe277Ile)
c.886T>A (p.Phe296Ile)
c.880T>A (p.Phe294Ile)
11g.128839416C>ACA477702841KCNJ1c.828G>T (p.Val276=)
c.885G>T (p.Val295=)
c.879G>T (p.Val293=)
11g.128839416C=CA2008286476KCNJ1c.828G= (p.Val276=)
c.885G= (p.Val295=)
c.879G= (p.Val293=)
11g.128839416C>GCA477702842KCNJ1c.828G>C (p.Val276=)
c.885G>C (p.Val295=)
c.879G>C (p.Val293=)
11g.128839416C>TCA477702840KCNJ1c.828G>A (p.Val276=)
c.885G>A (p.Val295=)
c.879G>A (p.Val293=)
 ClinVar dbSNP
11g.128839417A=CA2008286481KCNJ1c.827T= (p.Val276=)
c.884T= (p.Val295=)
c.878T= (p.Val293=)
11g.128839417A>CCA383243717KCNJ1c.827T>G (p.Val276Gly)
c.884T>G (p.Val295Gly)
c.878T>G (p.Val293Gly)
 dbSNP
11g.128839417A>GCA6357447KCNJ1c.827T>C (p.Val276Ala)
c.884T>C (p.Val295Ala)
c.878T>C (p.Val293Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839417A>TCA383243723KCNJ1c.827T>A (p.Val276Glu)
c.884T>A (p.Val295Glu)
c.878T>A (p.Val293Glu)
11g.128839418C>ACA383243727KCNJ1c.826G>T (p.Val276Leu)
c.883G>T (p.Val295Leu)
c.877G>T (p.Val293Leu)
11g.128839418C=CA2008286483KCNJ1c.826G= (p.Val276=)
c.883G= (p.Val295=)
c.877G= (p.Val293=)
11g.128839418C>GCA383243729KCNJ1c.826G>C (p.Val276Leu)
c.883G>C (p.Val295Leu)
c.877G>C (p.Val293Leu)
11g.128839418C>TCA383243734KCNJ1c.826G>A (p.Val276Met)
c.883G>A (p.Val295Met)
c.877G>A (p.Val293Met)
 dbSNP
11g.128839419C>ACA477702848KCNJ1c.825G>T (p.Val275=)
c.882G>T (p.Val294=)
c.876G>T (p.Val292=)
11g.128839419C>GCA477702846KCNJ1c.825G>C (p.Val275=)
c.882G>C (p.Val294=)
c.876G>C (p.Val292=)
11g.128839419C>TCA477702847KCNJ1c.825G>A (p.Val275=)
c.882G>A (p.Val294=)
c.876G>A (p.Val292=)
 ClinVar
11g.128839420A>CCA383243736KCNJ1c.824T>G (p.Val275Gly)
c.881T>G (p.Val294Gly)
c.875T>G (p.Val292Gly)
11g.128839420A>GCA383243743KCNJ1c.824T>C (p.Val275Ala)
c.881T>C (p.Val294Ala)
c.875T>C (p.Val292Ala)
11g.128839420A>TCA383243745KCNJ1c.824T>A (p.Val275Glu)
c.881T>A (p.Val294Glu)
c.875T>A (p.Val292Glu)
11g.128839421C>ACA383243747KCNJ1c.823G>T (p.Val275Leu)
c.880G>T (p.Val294Leu)
c.874G>T (p.Val292Leu)
11g.128839421C>GCA383243749KCNJ1c.823G>C (p.Val275Leu)
c.880G>C (p.Val294Leu)
c.874G>C (p.Val292Leu)
 gnomAD v4
11g.128839421C>TCA383243752KCNJ1c.823G>A (p.Val275Met)
c.880G>A (p.Val294Met)
c.874G>A (p.Val292Met)
11g.128839422T>ACA383243755KCNJ1c.822A>T (p.Leu274Phe)
c.879A>T (p.Leu293Phe)
c.873A>T (p.Leu291Phe)
11g.128839422T>CCA477702849KCNJ1c.822A>G (p.Leu274=)
c.879A>G (p.Leu293=)
c.873A>G (p.Leu291=)
11g.128839422T>GCA383243758KCNJ1c.822A>C (p.Leu274Phe)
c.879A>C (p.Leu293Phe)
c.873A>C (p.Leu291Phe)
11g.128839423A>CCA383243760KCNJ1c.821T>G (p.Leu274Ter)
c.878T>G (p.Leu293Ter)
c.872T>G (p.Leu291Ter)
11g.128839423A>GCA383243762KCNJ1c.821T>C (p.Leu274Ser)
c.878T>C (p.Leu293Ser)
c.872T>C (p.Leu291Ser)
11g.128839423A>TCA383243764KCNJ1c.821T>A (p.Leu274Ter)
c.878T>A (p.Leu293Ter)
c.872T>A (p.Leu291Ter)
11g.128839424A>CCA383243766KCNJ1c.820T>G (p.Leu274Val)
c.877T>G (p.Leu293Val)
c.871T>G (p.Leu291Val)
11g.128839424A>GCA477702852KCNJ1c.820T>C (p.Leu274=)
c.877T>C (p.Leu293=)
c.871T>C (p.Leu291=)
11g.128839424A>TCA383243768KCNJ1c.820T>A (p.Leu274Ile)
c.877T>A (p.Leu293Ile)
c.871T>A (p.Leu291Ile)
11g.128839424_128839425insACACACCCAACACACA2794083165KCNJ1c.820_821insGTGTTGGGTGTGTT (p.Leu274CysfsTer6)
c.877_878insGTGTTGGGTGTGTT (p.Leu293CysfsTer6)
c.871_872insGTGTTGGGTGTGTT (p.Leu291CysfsTer6)
11g.128839425T>ACA383243771KCNJ1c.819A>T (p.Glu273Asp)
c.876A>T (p.Glu292Asp)
c.870A>T (p.Glu290Asp)
11g.128839425T>CCA230628156KCNJ1c.819A>G (p.Glu273=)
c.876A>G (p.Glu292=)
c.870A>G (p.Glu290=)
 ClinVar dbSNP gnomAD v4
11g.128839425T>GCA383243774KCNJ1c.819A>C (p.Glu273Asp)
c.876A>C (p.Glu292Asp)
c.870A>C (p.Glu290Asp)
11g.128839425T=CA2008286486KCNJ1c.819A= (p.Glu273=)
c.876A= (p.Glu292=)
c.870A= (p.Glu290=)
11g.128839426T>ACA383243776KCNJ1c.818A>T (p.Glu273Val)
c.875A>T (p.Glu292Val)
c.869A>T (p.Glu290Val)
 gnomAD v4
11g.128839426T>CCA383243778KCNJ1c.818A>G (p.Glu273Gly)
c.875A>G (p.Glu292Gly)
c.869A>G (p.Glu290Gly)
11g.128839426T>GCA383243780KCNJ1c.818A>C (p.Glu273Ala)
c.875A>C (p.Glu292Ala)
c.869A>C (p.Glu290Ala)
11g.128839427C>ACA383243785KCNJ1c.817G>T (p.Glu273Ter)
c.874G>T (p.Glu292Ter)
c.868G>T (p.Glu290Ter)
11g.128839427C>GCA383243784KCNJ1c.817G>C (p.Glu273Gln)
c.874G>C (p.Glu292Gln)
c.868G>C (p.Glu290Gln)
11g.128839427C>TCA383243782KCNJ1c.817G>A (p.Glu273Lys)
c.874G>A (p.Glu292Lys)
c.868G>A (p.Glu290Lys)
11g.128839428A>CCA383243787KCNJ1c.816T>G (p.Phe272Leu)
c.873T>G (p.Phe291Leu)
c.867T>G (p.Phe289Leu)
11g.128839428A>GCA477702856KCNJ1c.816T>C (p.Phe272=)
c.873T>C (p.Phe291=)
c.867T>C (p.Phe289=)
11g.128839428A>TCA383243789KCNJ1c.816T>A (p.Phe272Leu)
c.873T>A (p.Phe291Leu)
c.867T>A (p.Phe289Leu)
11g.128839429A>CCA383243791KCNJ1c.815T>G (p.Phe272Cys)
c.872T>G (p.Phe291Cys)
c.866T>G (p.Phe289Cys)
11g.128839429A>GCA383243793KCNJ1c.815T>C (p.Phe272Ser)
c.872T>C (p.Phe291Ser)
c.866T>C (p.Phe289Ser)
11g.128839429A>TCA383243795KCNJ1c.815T>A (p.Phe272Tyr)
c.872T>A (p.Phe291Tyr)
c.866T>A (p.Phe289Tyr)
11g.128839430A>CCA383243797KCNJ1c.814T>G (p.Phe272Val)
c.871T>G (p.Phe291Val)
c.865T>G (p.Phe289Val)
11g.128839430A>GCA383243799KCNJ1c.814T>C (p.Phe272Leu)
c.871T>C (p.Phe291Leu)
c.865T>C (p.Phe289Leu)
11g.128839430A>TCA383243801KCNJ1c.814T>A (p.Phe272Ile)
c.871T>A (p.Phe291Ile)
c.865T>A (p.Phe289Ile)
11g.128839431G>ACA477702860KCNJ1c.813C>T (p.Asp271=)
c.870C>T (p.Asp290=)
c.864C>T (p.Asp288=)
11g.128839431G>CCA383243802KCNJ1c.813C>G (p.Asp271Glu)
c.870C>G (p.Asp290Glu)
c.864C>G (p.Asp288Glu)
11g.128839431G>TCA383243804KCNJ1c.813C>A (p.Asp271Glu)
c.870C>A (p.Asp290Glu)
c.864C>A (p.Asp288Glu)
11g.128839432T>ACA383243807KCNJ1c.812A>T (p.Asp271Val)
c.869A>T (p.Asp290Val)
c.863A>T (p.Asp288Val)
 dbSNP gnomAD v4 COSMIC
11g.128839432T>CCA383243808KCNJ1c.812A>G (p.Asp271Gly)
c.869A>G (p.Asp290Gly)
c.863A>G (p.Asp288Gly)
 dbSNP
11g.128839432T>GCA383243810KCNJ1c.812A>C (p.Asp271Ala)
c.869A>C (p.Asp290Ala)
c.863A>C (p.Asp288Ala)
11g.128839432T=CA2008286490KCNJ1c.812A= (p.Asp271=)
c.869A= (p.Asp290=)
c.863A= (p.Asp288=)
11g.128839433C>ACA383243816KCNJ1c.811G>T (p.Asp271Tyr)
c.868G>T (p.Asp290Tyr)
c.862G>T (p.Asp288Tyr)
11g.128839433C>GCA383243812KCNJ1c.811G>C (p.Asp271His)
c.868G>C (p.Asp290His)
c.862G>C (p.Asp288His)
11g.128839433C>TCA383243814KCNJ1c.811G>A (p.Asp271Asn)
c.868G>A (p.Asp290Asn)
c.862G>A (p.Asp288Asn)
 COSMIC
11g.128839434C>ACA383243818KCNJ1c.810G>T (p.Gln270His)
c.867G>T (p.Gln289His)
c.861G>T (p.Gln287His)
11g.128839434C=CA2008286492KCNJ1c.810G= (p.Gln270=)
c.867G= (p.Gln289=)
c.861G= (p.Gln287=)
11g.128839434C>GCA383243819KCNJ1c.810G>C (p.Gln270His)
c.867G>C (p.Gln289His)
c.861G>C (p.Gln287His)
11g.128839434C>TCA477702866KCNJ1c.810G>A (p.Gln270=)
c.867G>A (p.Gln289=)
c.861G>A (p.Gln287=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839435T>ACA383243822KCNJ1c.809A>T (p.Gln270Leu)
c.866A>T (p.Gln289Leu)
c.860A>T (p.Gln287Leu)
11g.128839435T>CCA383243823KCNJ1c.809A>G (p.Gln270Arg)
c.866A>G (p.Gln289Arg)
c.860A>G (p.Gln287Arg)
11g.128839435T>GCA383243825KCNJ1c.809A>C (p.Gln270Pro)
c.866A>C (p.Gln289Pro)
c.860A>C (p.Gln287Pro)
11g.128839436G>ACA383243826KCNJ1c.808C>T (p.Gln270Ter)
c.865C>T (p.Gln289Ter)
c.859C>T (p.Gln287Ter)
 ClinVar
11g.128839436G>CCA383243827KCNJ1c.808C>G (p.Gln270Glu)
c.865C>G (p.Gln289Glu)
c.859C>G (p.Gln287Glu)
11g.128839436G>TCA383243828KCNJ1c.808C>A (p.Gln270Lys)
c.865C>A (p.Gln289Lys)
c.859C>A (p.Gln287Lys)
 gnomAD v4
11g.128839437C>ACA383243831KCNJ1c.807G>T (p.Gln269His)
c.864G>T (p.Gln288His)
c.858G>T (p.Gln286His)
11g.128839437C>GCA383243832KCNJ1c.807G>C (p.Gln269His)
c.864G>C (p.Gln288His)
c.858G>C (p.Gln286His)
11g.128839437C>TCA477702869KCNJ1c.807G>A (p.Gln269=)
c.864G>A (p.Gln288=)
c.858G>A (p.Gln286=)
 ClinVar
11g.128839438T>ACA383243835KCNJ1c.806A>T (p.Gln269Leu)
c.863A>T (p.Gln288Leu)
c.857A>T (p.Gln286Leu)
11g.128839438T>CCA383243837KCNJ1c.806A>G (p.Gln269Arg)
c.863A>G (p.Gln288Arg)
c.857A>G (p.Gln286Arg)
11g.128839438T>GCA383243838KCNJ1c.806A>C (p.Gln269Pro)
c.863A>C (p.Gln288Pro)
c.857A>C (p.Gln286Pro)
11g.128839439G>ACA383243842KCNJ1c.805C>T (p.Gln269Ter)
c.862C>T (p.Gln288Ter)
c.856C>T (p.Gln286Ter)
 gnomAD v4
11g.128839439G>CCA383243844KCNJ1c.805C>G (p.Gln269Glu)
c.862C>G (p.Gln288Glu)
c.856C>G (p.Gln286Glu)
11g.128839439G>TCA383243840KCNJ1c.805C>A (p.Gln269Lys)
c.862C>A (p.Gln288Lys)
c.856C>A (p.Gln286Lys)
11g.128839440G>ACA477702876KCNJ1c.804C>T (p.Leu268=)
c.861C>T (p.Leu287=)
c.855C>T (p.Leu285=)
 gnomAD v4
11g.128839440G>CCA477702877KCNJ1c.804C>G (p.Leu268=)
c.861C>G (p.Leu287=)
c.855C>G (p.Leu285=)
11g.128839440G>TCA477702879KCNJ1c.804C>A (p.Leu268=)
c.861C>A (p.Leu287=)
c.855C>A (p.Leu285=)
 gnomAD v4
11g.128839441A>CCA383243848KCNJ1c.803T>G (p.Leu268Arg)
c.860T>G (p.Leu287Arg)
c.854T>G (p.Leu285Arg)
11g.128839441A>GCA383243846KCNJ1c.803T>C (p.Leu268Pro)
c.860T>C (p.Leu287Pro)
c.854T>C (p.Leu285Pro)
11g.128839441A>TCA383243849KCNJ1c.803T>A (p.Leu268His)
c.860T>A (p.Leu287His)
c.854T>A (p.Leu285His)
11g.128839442G>ACA383243851KCNJ1c.802C>T (p.Leu268Phe)
c.859C>T (p.Leu287Phe)
c.853C>T (p.Leu285Phe)
 gnomAD v4 COSMIC
11g.128839442G>CCA383243853KCNJ1c.802C>G (p.Leu268Val)
c.859C>G (p.Leu287Val)
c.853C>G (p.Leu285Val)
11g.128839442G>TCA383243855KCNJ1c.802C>A (p.Leu268Ile)
c.859C>A (p.Leu287Ile)
c.853C>A (p.Leu285Ile)
11g.128839443A>CCA477702889KCNJ1c.801T>G (p.Leu267=)
c.858T>G (p.Leu286=)
c.852T>G (p.Leu284=)
11g.128839443A>GCA477702891KCNJ1c.801T>C (p.Leu267=)
c.858T>C (p.Leu286=)
c.852T>C (p.Leu284=)
11g.128839443A>TCA477702892KCNJ1c.801T>A (p.Leu267=)
c.858T>A (p.Leu286=)
c.852T>A (p.Leu284=)
11g.128839444A>CCA383243857KCNJ1c.800T>G (p.Leu267Arg)
c.857T>G (p.Leu286Arg)
c.851T>G (p.Leu284Arg)
11g.128839444A>GCA383243859KCNJ1c.800T>C (p.Leu267Pro)
c.857T>C (p.Leu286Pro)
c.851T>C (p.Leu284Pro)
11g.128839444A>TCA383243861KCNJ1c.800T>A (p.Leu267His)
c.857T>A (p.Leu286His)
c.851T>A (p.Leu284His)
11g.128839445G>ACA383243862KCNJ1c.799C>T (p.Leu267Phe)
c.856C>T (p.Leu286Phe)
c.850C>T (p.Leu284Phe)
 dbSNP
11g.128839445G>CCA383243864KCNJ1c.799C>G (p.Leu267Val)
c.856C>G (p.Leu286Val)
c.850C>G (p.Leu284Val)
 dbSNP gnomAD v2
11g.128839445G=CA2008286494KCNJ1c.799C= (p.Leu267=)
c.856C= (p.Leu286=)
c.850C= (p.Leu284=)
11g.128839445G>TCA383243866KCNJ1c.799C>A (p.Leu267Ile)
c.856C>A (p.Leu286Ile)
c.850C>A (p.Leu284Ile)
11g.128839446G>ACA6357449KCNJ1c.798C>T (p.Thr266=)
c.855C>T (p.Thr285=)
c.849C>T (p.Thr283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839446G>CCA477702899KCNJ1c.798C>G (p.Thr266=)
c.855C>G (p.Thr285=)
c.849C>G (p.Thr283=)
 ClinVar
11g.128839446G=CA2008286496KCNJ1c.798C= (p.Thr266=)
c.855C= (p.Thr285=)
c.849C= (p.Thr283=)
11g.128839446G>TCA6357448KCNJ1c.798C>A (p.Thr266=)
c.855C>A (p.Thr285=)
c.849C>A (p.Thr283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched