Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.128839707T>ACA477703317KCNJ1c.537A>T (p.Ala179=)
c.594A>T (p.Ala198=)
c.588A>T (p.Ala196=)
11g.128839707T>CCA477703318KCNJ1c.537A>G (p.Ala179=)
c.594A>G (p.Ala198=)
c.588A>G (p.Ala196=)
11g.128839707T>GCA477703319KCNJ1c.537A>C (p.Ala179=)
c.594A>C (p.Ala198=)
c.588A>C (p.Ala196=)
 gnomAD v4 COSMIC
11g.128839708G>ACA383244803KCNJ1c.536C>T (p.Ala179Val)
c.593C>T (p.Ala198Val)
c.587C>T (p.Ala196Val)
 dbSNP gnomAD v2 gnomAD v4
11g.128839708G>CCA383244805KCNJ1c.536C>G (p.Ala179Gly)
c.593C>G (p.Ala198Gly)
c.587C>G (p.Ala196Gly)
11g.128839708G=CA2008250889KCNJ1c.536C= (p.Ala179=)
c.593C= (p.Ala198=)
c.587C= (p.Ala196=)
11g.128839708G>TCA383244804KCNJ1c.536C>A (p.Ala179Glu)
c.593C>A (p.Ala198Glu)
c.587C>A (p.Ala196Glu)
11g.128839709C>ACA230628532KCNJ1c.535G>T (p.Ala179Ser)
c.592G>T (p.Ala198Ser)
c.586G>T (p.Ala196Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128839709C=CA2008250894KCNJ1c.535G= (p.Ala179=)
c.592G= (p.Ala198=)
c.586G= (p.Ala196=)
11g.128839709C>GCA383244806KCNJ1c.535G>C (p.Ala179Pro)
c.592G>C (p.Ala198Pro)
c.586G>C (p.Ala196Pro)
11g.128839709C>TCA120158KCNJ1c.535G>A (p.Ala179Thr)
c.592G>A (p.Ala198Thr)
c.586G>A (p.Ala196Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.128839710G>ACA6357499KCNJ1c.534C>T (p.Asn178=)
c.591C>T (p.Asn197=)
c.585C>T (p.Asn195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839710G>CCA383244807KCNJ1c.534C>G (p.Asn178Lys)
c.591C>G (p.Asn197Lys)
c.585C>G (p.Asn195Lys)
11g.128839710G=CA2008250909KCNJ1c.534C= (p.Asn178=)
c.591C= (p.Asn197=)
c.585C= (p.Asn195=)
11g.128839710G>TCA6357500KCNJ1c.534C>A (p.Asn178Lys)
c.591C>A (p.Asn197Lys)
c.585C>A (p.Asn195Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839711T>ACA383244808KCNJ1c.533A>T (p.Asn178Ile)
c.590A>T (p.Asn197Ile)
c.584A>T (p.Asn195Ile)
11g.128839711T>CCA383244810KCNJ1c.533A>G (p.Asn178Ser)
c.590A>G (p.Asn197Ser)
c.584A>G (p.Asn195Ser)
11g.128839711T>GCA383244809KCNJ1c.533A>C (p.Asn178Thr)
c.590A>C (p.Asn197Thr)
c.584A>C (p.Asn195Thr)
11g.128839712T>ACA383244811KCNJ1c.532A>T (p.Asn178Tyr)
c.589A>T (p.Asn197Tyr)
c.583A>T (p.Asn195Tyr)
11g.128839712T>CCA6357501KCNJ1c.532A>G (p.Asn178Asp)
c.589A>G (p.Asn197Asp)
c.583A>G (p.Asn195Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839712T>GCA383244812KCNJ1c.532A>C (p.Asn178His)
c.589A>C (p.Asn197His)
c.583A>C (p.Asn195His)
11g.128839712T=CA2008250916KCNJ1c.532A= (p.Asn178=)
c.589A= (p.Asn197=)
c.583A= (p.Asn195=)
11g.128839713C>ACA383244813KCNJ1c.531G>T (p.Lys177Asn)
c.588G>T (p.Lys196Asn)
c.582G>T (p.Lys194Asn)
11g.128839713C=CA2008250919KCNJ1c.531G= (p.Lys177=)
c.588G= (p.Lys196=)
c.582G= (p.Lys194=)
11g.128839713C>GCA383244814KCNJ1c.531G>C (p.Lys177Asn)
c.588G>C (p.Lys196Asn)
c.582G>C (p.Lys194Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.128839713C>TCA477703323KCNJ1c.531G>A (p.Lys177=)
c.588G>A (p.Lys196=)
c.582G>A (p.Lys194=)
11g.128839714T>ACA383244815KCNJ1c.530A>T (p.Lys177Met)
c.587A>T (p.Lys196Met)
c.581A>T (p.Lys194Met)
11g.128839714T>CCA383244816KCNJ1c.530A>G (p.Lys177Arg)
c.587A>G (p.Lys196Arg)
c.581A>G (p.Lys194Arg)
 gnomAD v4
11g.128839714T>GCA383244817KCNJ1c.530A>C (p.Lys177Thr)
c.587A>C (p.Lys196Thr)
c.581A>C (p.Lys194Thr)
11g.128839715T>ACA383244818KCNJ1c.529A>T (p.Lys177Ter)
c.586A>T (p.Lys196Ter)
c.580A>T (p.Lys194Ter)
11g.128839715T>CCA383244819KCNJ1c.529A>G (p.Lys177Glu)
c.586A>G (p.Lys196Glu)
c.580A>G (p.Lys194Glu)
11g.128839715T>GCA383244820KCNJ1c.529A>C (p.Lys177Gln)
c.586A>C (p.Lys196Gln)
c.580A>C (p.Lys194Gln)
11g.128839716G>ACA477703324KCNJ1c.528C>T (p.Ser176=)
c.585C>T (p.Ser195=)
c.579C>T (p.Ser193=)
11g.128839716G>CCA383244821KCNJ1c.528C>G (p.Ser176Arg)
c.585C>G (p.Ser195Arg)
c.579C>G (p.Ser193Arg)
11g.128839716G>TCA383244822KCNJ1c.528C>A (p.Ser176Arg)
c.585C>A (p.Ser195Arg)
c.579C>A (p.Ser193Arg)
11g.128839717C>ACA383244825KCNJ1c.527G>T (p.Ser176Ile)
c.584G>T (p.Ser195Ile)
c.578G>T (p.Ser193Ile)
11g.128839717C>GCA383244824KCNJ1c.527G>C (p.Ser176Thr)
c.584G>C (p.Ser195Thr)
c.578G>C (p.Ser193Thr)
11g.128839717C>TCA383244823KCNJ1c.527G>A (p.Ser176Asn)
c.584G>A (p.Ser195Asn)
c.578G>A (p.Ser193Asn)
11g.128839717_128839718delinsCTCA2008250921KCNJ1c.526_527delinsAG (p.Ser176=)
c.583_584delinsAG (p.Ser195=)
c.577_578delinsAG (p.Ser193=)
11g.128839718delCA943454851KCNJ1c.526del (p.Ser176AlafsTer5)
c.583del (p.Ser195AlafsTer5)
c.577del (p.Ser193AlafsTer5)
 dbSNP gnomAD v3 gnomAD v4
11g.128839718T>ACA383244826KCNJ1c.526A>T (p.Ser176Cys)
c.583A>T (p.Ser195Cys)
c.577A>T (p.Ser193Cys)
11g.128839718T>CCA383244827KCNJ1c.526A>G (p.Ser176Gly)
c.583A>G (p.Ser195Gly)
c.577A>G (p.Ser193Gly)
11g.128839718T>GCA383244828KCNJ1c.526A>C (p.Ser176Arg)
c.583A>C (p.Ser195Arg)
c.577A>C (p.Ser193Arg)
 gnomAD v4
11g.128839719G>ACA477703328KCNJ1c.525C>T (p.Phe175=)
c.582C>T (p.Phe194=)
c.576C>T (p.Phe192=)
11g.128839719G>CCA383244829KCNJ1c.525C>G (p.Phe175Leu)
c.582C>G (p.Phe194Leu)
c.576C>G (p.Phe192Leu)
11g.128839719G>TCA383244830KCNJ1c.525C>A (p.Phe175Leu)
c.582C>A (p.Phe194Leu)
c.576C>A (p.Phe192Leu)
11g.128839720A=CA2008250928KCNJ1c.524T= (p.Phe175=)
c.581T= (p.Phe194=)
c.575T= (p.Phe192=)
11g.128839720A>CCA383244831KCNJ1c.524T>G (p.Phe175Cys)
c.581T>G (p.Phe194Cys)
c.575T>G (p.Phe192Cys)
11g.128839720A>GCA383244832KCNJ1c.524T>C (p.Phe175Ser)
c.581T>C (p.Phe194Ser)
c.575T>C (p.Phe192Ser)
 dbSNP gnomAD v4
11g.128839720A>TCA383244833KCNJ1c.524T>A (p.Phe175Tyr)
c.581T>A (p.Phe194Tyr)
c.575T>A (p.Phe192Tyr)
11g.128839721A>CCA383244834KCNJ1c.523T>G (p.Phe175Val)
c.580T>G (p.Phe194Val)
c.574T>G (p.Phe192Val)
11g.128839721A>GCA383244835KCNJ1c.523T>C (p.Phe175Leu)
c.580T>C (p.Phe194Leu)
c.574T>C (p.Phe192Leu)
11g.128839721A>TCA383244836KCNJ1c.523T>A (p.Phe175Ile)
c.580T>A (p.Phe194Ile)
c.574T>A (p.Phe192Ile)
11g.128839722C>ACA477703331KCNJ1c.522G>T (p.Thr174=)
c.579G>T (p.Thr193=)
c.573G>T (p.Thr191=)
11g.128839722C=CA2008250939KCNJ1c.522G= (p.Thr174=)
c.579G= (p.Thr193=)
c.573G= (p.Thr191=)
11g.128839722C>GCA477703332KCNJ1c.522G>C (p.Thr174=)
c.579G>C (p.Thr193=)
c.573G>C (p.Thr191=)
 ClinVar gnomAD v3 gnomAD v4
11g.128839722C>TCA6357502KCNJ1c.522G>A (p.Thr174=)
c.579G>A (p.Thr193=)
c.573G>A (p.Thr191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839723G>ACA6357503KCNJ1c.521C>T (p.Thr174Met)
c.578C>T (p.Thr193Met)
c.572C>T (p.Thr191Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839723G>CCA383244837KCNJ1c.521C>G (p.Thr174Arg)
c.578C>G (p.Thr193Arg)
c.572C>G (p.Thr191Arg)
11g.128839723G=CA2008250951KCNJ1c.521C= (p.Thr174=)
c.578C= (p.Thr193=)
c.572C= (p.Thr191=)
11g.128839723G>TCA383244838KCNJ1c.521C>A (p.Thr174Lys)
c.578C>A (p.Thr193Lys)
c.572C>A (p.Thr191Lys)
 gnomAD v4
11g.128839724T>ACA383244839KCNJ1c.520A>T (p.Thr174Ser)
c.577A>T (p.Thr193Ser)
c.571A>T (p.Thr191Ser)
11g.128839724T>CCA383244840KCNJ1c.520A>G (p.Thr174Ala)
c.577A>G (p.Thr193Ala)
c.571A>G (p.Thr191Ala)
11g.128839724T>GCA383244841KCNJ1c.520A>C (p.Thr174Pro)
c.577A>C (p.Thr193Pro)
c.571A>C (p.Thr191Pro)
11g.128839725A>CCA383244842KCNJ1c.519T>G (p.Ile173Met)
c.576T>G (p.Ile192Met)
c.570T>G (p.Ile190Met)
 gnomAD v4
11g.128839725A>GCA477703334KCNJ1c.519T>C (p.Ile173=)
c.576T>C (p.Ile192=)
c.570T>C (p.Ile190=)
11g.128839725A>TCA477703336KCNJ1c.519T>A (p.Ile173=)
c.576T>A (p.Ile192=)
c.570T>A (p.Ile190=)
11g.128839726A>CCA383244843KCNJ1c.518T>G (p.Ile173Ser)
c.575T>G (p.Ile192Ser)
c.569T>G (p.Ile190Ser)
11g.128839726A>GCA383244844KCNJ1c.518T>C (p.Ile173Thr)
c.575T>C (p.Ile192Thr)
c.569T>C (p.Ile190Thr)
11g.128839726A>TCA383244845KCNJ1c.518T>A (p.Ile173Asn)
c.575T>A (p.Ile192Asn)
c.569T>A (p.Ile190Asn)
11g.128839727T>ACA383244846KCNJ1c.517A>T (p.Ile173Phe)
c.574A>T (p.Ile192Phe)
c.568A>T (p.Ile190Phe)
 COSMIC
11g.128839727T>CCA383244847KCNJ1c.517A>G (p.Ile173Val)
c.574A>G (p.Ile192Val)
c.568A>G (p.Ile190Val)
 gnomAD v4
11g.128839727T>GCA383244848KCNJ1c.517A>C (p.Ile173Leu)
c.574A>C (p.Ile192Leu)
c.568A>C (p.Ile190Leu)
11g.128839728G>ACA477703337KCNJ1c.516C>T (p.Thr172=)
c.573C>T (p.Thr191=)
c.567C>T (p.Thr189=)
 gnomAD v4 COSMIC
11g.128839728G>CCA477703338KCNJ1c.516C>G (p.Thr172=)
c.573C>G (p.Thr191=)
c.567C>G (p.Thr189=)
11g.128839728G>TCA477703339KCNJ1c.516C>A (p.Thr172=)
c.573C>A (p.Thr191=)
c.567C>A (p.Thr189=)
11g.128839729G>ACA383244851KCNJ1c.515C>T (p.Thr172Ile)
c.572C>T (p.Thr191Ile)
c.566C>T (p.Thr189Ile)
 gnomAD v4
11g.128839729G>CCA383244849KCNJ1c.515C>G (p.Thr172Ser)
c.572C>G (p.Thr191Ser)
c.566C>G (p.Thr189Ser)
11g.128839729G>TCA383244850KCNJ1c.515C>A (p.Thr172Asn)
c.572C>A (p.Thr191Asn)
c.566C>A (p.Thr189Asn)
11g.128839730T>ACA383244852KCNJ1c.514A>T (p.Thr172Ser)
c.571A>T (p.Thr191Ser)
c.565A>T (p.Thr189Ser)
11g.128839730T>CCA230628564KCNJ1c.514A>G (p.Thr172Ala)
c.571A>G (p.Thr191Ala)
c.565A>G (p.Thr189Ala)
 dbSNP gnomAD v4
11g.128839730T>GCA383244853KCNJ1c.514A>C (p.Thr172Pro)
c.571A>C (p.Thr191Pro)
c.565A>C (p.Thr189Pro)
 ClinVar
11g.128839730T=CA2008250959KCNJ1c.514A= (p.Thr172=)
c.571A= (p.Thr191=)
c.565A= (p.Thr189=)
11g.128839731C>ACA383244854KCNJ1c.513G>T (p.Lys171Asn)
c.570G>T (p.Lys190Asn)
c.564G>T (p.Lys188Asn)
 ClinVar
11g.128839731C>GCA383244855KCNJ1c.513G>C (p.Lys171Asn)
c.570G>C (p.Lys190Asn)
c.564G>C (p.Lys188Asn)
11g.128839731C>TCA477703343KCNJ1c.513G>A (p.Lys171=)
c.570G>A (p.Lys190=)
c.564G>A (p.Lys188=)
11g.128839732T>ACA383244856KCNJ1c.512A>T (p.Lys171Met)
c.569A>T (p.Lys190Met)
c.563A>T (p.Lys188Met)
11g.128839732T>CCA383244857KCNJ1c.512A>G (p.Lys171Arg)
c.569A>G (p.Lys190Arg)
c.563A>G (p.Lys188Arg)
11g.128839732T>GCA383244858KCNJ1c.512A>C (p.Lys171Thr)
c.569A>C (p.Lys190Thr)
c.563A>C (p.Lys188Thr)
11g.128839733T>ACA383244859KCNJ1c.511A>T (p.Lys171Ter)
c.568A>T (p.Lys190Ter)
c.562A>T (p.Lys188Ter)
 COSMIC
11g.128839733T>CCA383244860KCNJ1c.511A>G (p.Lys171Glu)
c.568A>G (p.Lys190Glu)
c.562A>G (p.Lys188Glu)
11g.128839733T>GCA383244861KCNJ1c.511A>C (p.Lys171Gln)
c.568A>C (p.Lys190Gln)
c.562A>C (p.Lys188Gln)
11g.128839734G>ACA477703344KCNJ1c.510C>T (p.Ala170=)
c.567C>T (p.Ala189=)
c.561C>T (p.Ala187=)
11g.128839734G>CCA477703345KCNJ1c.510C>G (p.Ala170=)
c.567C>G (p.Ala189=)
c.561C>G (p.Ala187=)
 ClinVar dbSNP
11g.128839734G=CA2008250963KCNJ1c.510C= (p.Ala170=)
c.567C= (p.Ala189=)
c.561C= (p.Ala187=)
11g.128839734G>TCA477703346KCNJ1c.510C>A (p.Ala170=)
c.567C>A (p.Ala189=)
c.561C>A (p.Ala187=)
11g.128839735G>ACA383244863KCNJ1c.509C>T (p.Ala170Val)
c.566C>T (p.Ala189Val)
c.560C>T (p.Ala187Val)
11g.128839735G>CCA383244864KCNJ1c.509C>G (p.Ala170Gly)
c.566C>G (p.Ala189Gly)
c.560C>G (p.Ala187Gly)
11g.128839735G>TCA383244862KCNJ1c.509C>A (p.Ala170Asp)
c.566C>A (p.Ala189Asp)
c.560C>A (p.Ala187Asp)
11g.128839736C>ACA383244867KCNJ1c.508G>T (p.Ala170Ser)
c.565G>T (p.Ala189Ser)
c.559G>T (p.Ala187Ser)
11g.128839736C>GCA383244865KCNJ1c.508G>C (p.Ala170Pro)
c.565G>C (p.Ala189Pro)
c.559G>C (p.Ala187Pro)
11g.128839736C>TCA383244866KCNJ1c.508G>A (p.Ala170Thr)
c.565G>A (p.Ala189Thr)
c.559G>A (p.Ala187Thr)
 gnomAD v4
11g.128839736dupCA2616771384KCNJ1c.508dup (p.Ala170GlyfsTer27)
c.565dup (p.Ala189GlyfsTer27)
c.559dup (p.Ala187GlyfsTer27)
 gnomAD v4
11g.128839737A>CCA477703347KCNJ1c.507T>G (p.Arg169=)
c.564T>G (p.Arg188=)
c.558T>G (p.Arg186=)
 gnomAD v4
11g.128839737A>GCA477703349KCNJ1c.507T>C (p.Arg169=)
c.564T>C (p.Arg188=)
c.558T>C (p.Arg186=)
11g.128839737A>TCA477703348KCNJ1c.507T>A (p.Arg169=)
c.564T>A (p.Arg188=)
c.558T>A (p.Arg186=)
11g.128839738C>ACA383244868KCNJ1c.506G>T (p.Arg169Leu)
c.563G>T (p.Arg188Leu)
c.557G>T (p.Arg186Leu)
 COSMIC
11g.128839738C=CA2008250968KCNJ1c.506G= (p.Arg169=)
c.563G= (p.Arg188=)
c.557G= (p.Arg186=)
11g.128839738C>GCA383244869KCNJ1c.506G>C (p.Arg169Pro)
c.563G>C (p.Arg188Pro)
c.557G>C (p.Arg186Pro)
11g.128839738C>TCA6357504KCNJ1c.506G>A (p.Arg169His)
c.563G>A (p.Arg188His)
c.557G>A (p.Arg186His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839739G>ACA6357505KCNJ1c.505C>T (p.Arg169Cys)
c.562C>T (p.Arg188Cys)
c.556C>T (p.Arg186Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839739G>CCA383244870KCNJ1c.505C>G (p.Arg169Gly)
c.562C>G (p.Arg188Gly)
c.556C>G (p.Arg186Gly)
11g.128839739G=CA2008250977KCNJ1c.505C= (p.Arg169=)
c.562C= (p.Arg188=)
c.556C= (p.Arg186=)
11g.128839739G>TCA6357506KCNJ1c.505C>A (p.Arg169Ser)
c.562C>A (p.Arg188Ser)
c.556C>A (p.Arg186Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839739_128839740delinsGTCA2008250980KCNJ1c.504_505delinsAC (p.Lys168=)
c.561_562delinsAC (p.Lys187=)
c.555_556delinsAC (p.Lys185=)
11g.128839740T>ACA383244871KCNJ1c.504A>T (p.Lys168Asn)
c.561A>T (p.Lys187Asn)
c.555A>T (p.Lys185Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.128839740T>CCA477703356KCNJ1c.504A>G (p.Lys168=)
c.561A>G (p.Lys187=)
c.555A>G (p.Lys185=)
11g.128839740T>GCA383244872KCNJ1c.504A>C (p.Lys168Asn)
c.561A>C (p.Lys187Asn)
c.555A>C (p.Lys185Asn)
11g.128839740T=CA2008250991KCNJ1c.504A= (p.Lys168=)
c.561A= (p.Lys187=)
c.555A= (p.Lys185=)
11g.128839745dupCA6357507KCNJ1c.504dup (p.Arg169ThrfsTer28)
c.561dup (p.Arg188ThrfsTer28)
c.555dup (p.Arg186ThrfsTer28)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839745delCA673266863KCNJ1c.504del (p.Lys168AsnfsTer13)
c.561del (p.Lys187AsnfsTer13)
c.555del (p.Lys185AsnfsTer13)
 ClinVar dbSNP gnomAD v4
11g.128839741T>ACA383244875KCNJ1c.503A>T (p.Lys168Ile)
c.560A>T (p.Lys187Ile)
c.554A>T (p.Lys185Ile)
11g.128839741T>CCA383244874KCNJ1c.503A>G (p.Lys168Arg)
c.560A>G (p.Lys187Arg)
c.554A>G (p.Lys185Arg)
11g.128839741T>GCA383244873KCNJ1c.503A>C (p.Lys168Thr)
c.560A>C (p.Lys187Thr)
c.554A>C (p.Lys185Thr)
11g.128839742T>ACA383244876KCNJ1c.502A>T (p.Lys168Ter)
c.559A>T (p.Lys187Ter)
c.553A>T (p.Lys185Ter)
11g.128839742T>CCA383244877KCNJ1c.502A>G (p.Lys168Glu)
c.559A>G (p.Lys187Glu)
c.553A>G (p.Lys185Glu)
 gnomAD v4
11g.128839742T>GCA383244878KCNJ1c.502A>C (p.Lys168Gln)
c.559A>C (p.Lys187Gln)
c.553A>C (p.Lys185Gln)
11g.128839743T>ACA6357508KCNJ1c.501A>T (p.Lys167Asn)
c.558A>T (p.Lys186Asn)
c.552A>T (p.Lys184Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839743T>CCA477703359KCNJ1c.501A>G (p.Lys167=)
c.558A>G (p.Lys186=)
c.552A>G (p.Lys184=)
11g.128839743T>GCA383244879KCNJ1c.501A>C (p.Lys167Asn)
c.558A>C (p.Lys186Asn)
c.552A>C (p.Lys184Asn)
11g.128839743T=CA2008251003KCNJ1c.501A= (p.Lys167=)
c.558A= (p.Lys186=)
c.552A= (p.Lys184=)
11g.128839744T>ACA383244880KCNJ1c.500A>T (p.Lys167Ile)
c.557A>T (p.Lys186Ile)
c.551A>T (p.Lys184Ile)
11g.128839744T>CCA383244881KCNJ1c.500A>G (p.Lys167Arg)
c.557A>G (p.Lys186Arg)
c.551A>G (p.Lys184Arg)
11g.128839744T>GCA383244882KCNJ1c.500A>C (p.Lys167Thr)
c.557A>C (p.Lys186Thr)
c.551A>C (p.Lys184Thr)
11g.128839745T>ACA383244883KCNJ1c.499A>T (p.Lys167Ter)
c.556A>T (p.Lys186Ter)
c.550A>T (p.Lys184Ter)
 ClinVar
11g.128839745T>CCA6357509KCNJ1c.499A>G (p.Lys167Glu)
c.556A>G (p.Lys186Glu)
c.550A>G (p.Lys184Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839745T>GCA383244884KCNJ1c.499A>C (p.Lys167Gln)
c.556A>C (p.Lys186Gln)
c.550A>C (p.Lys184Gln)
11g.128839745T=CA2008251004KCNJ1c.499A= (p.Lys167=)
c.556A= (p.Lys186=)
c.550A= (p.Lys184=)
11g.128839746G>ACA477703362KCNJ1c.498C>T (p.Pro166=)
c.555C>T (p.Pro185=)
c.549C>T (p.Pro183=)
11g.128839746G>CCA6357510KCNJ1c.498C>G (p.Pro166=)
c.555C>G (p.Pro185=)
c.549C>G (p.Pro183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839746G=CA2008251009KCNJ1c.498C= (p.Pro166=)
c.555C= (p.Pro185=)
c.549C= (p.Pro183=)
11g.128839746G>TCA477703360KCNJ1c.498C>A (p.Pro166=)
c.555C>A (p.Pro185=)
c.549C>A (p.Pro183=)
11g.128839747G>ACA383244886KCNJ1c.497C>T (p.Pro166Leu)
c.554C>T (p.Pro185Leu)
c.548C>T (p.Pro183Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839747G>CCA383244887KCNJ1c.497C>G (p.Pro166Arg)
c.554C>G (p.Pro185Arg)
c.548C>G (p.Pro183Arg)
11g.128839747G=CA2008251014KCNJ1c.497C= (p.Pro166=)
c.554C= (p.Pro185=)
c.548C= (p.Pro183=)
11g.128839747G>TCA383244885KCNJ1c.497C>A (p.Pro166His)
c.554C>A (p.Pro185His)
c.548C>A (p.Pro183His)
11g.128839748G>ACA6357511KCNJ1c.496C>T (p.Pro166Ser)
c.553C>T (p.Pro185Ser)
c.547C>T (p.Pro183Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839748G>CCA383244888KCNJ1c.496C>G (p.Pro166Ala)
c.553C>G (p.Pro185Ala)
c.547C>G (p.Pro183Ala)
11g.128839748G=CA2008251017KCNJ1c.496C= (p.Pro166=)
c.553C= (p.Pro185=)
c.547C= (p.Pro183=)
11g.128839748G>TCA383244889KCNJ1c.496C>A (p.Pro166Thr)
c.553C>A (p.Pro185Thr)
c.547C>A (p.Pro183Thr)
11g.128839749C>ACA383244890KCNJ1c.495G>T (p.Arg165Ser)
c.552G>T (p.Arg184Ser)
c.546G>T (p.Arg182Ser)
11g.128839749C=CA2008251019KCNJ1c.495G= (p.Arg165=)
c.552G= (p.Arg184=)
c.546G= (p.Arg182=)
11g.128839749C>GCA230628611KCNJ1c.495G>C (p.Arg165Ser)
c.552G>C (p.Arg184Ser)
c.546G>C (p.Arg182Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.128839749C>TCA477703364KCNJ1c.495G>A (p.Arg165=)
c.552G>A (p.Arg184=)
c.546G>A (p.Arg182=)
11g.128839750C>ACA383244891KCNJ1c.494G>T (p.Arg165Met)
c.551G>T (p.Arg184Met)
c.545G>T (p.Arg182Met)
11g.128839750C>GCA383244892KCNJ1c.494G>C (p.Arg165Thr)
c.551G>C (p.Arg184Thr)
c.545G>C (p.Arg182Thr)
11g.128839750C>TCA383244893KCNJ1c.494G>A (p.Arg165Lys)
c.551G>A (p.Arg184Lys)
c.545G>A (p.Arg182Lys)
11g.128839751delCA2573130334KCNJ1c.493del (p.Arg165GlyfsTer16)
c.550del (p.Arg184GlyfsTer16)
c.544del (p.Arg182GlyfsTer16)
11g.128839751T>ACA383244894KCNJ1c.493A>T (p.Arg165Trp)
c.550A>T (p.Arg184Trp)
c.544A>T (p.Arg182Trp)
11g.128839751T>CCA6357512KCNJ1c.493A>G (p.Arg165Gly)
c.550A>G (p.Arg184Gly)
c.544A>G (p.Arg182Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839751T>GCA477703365KCNJ1c.493A>C (p.Arg165=)
c.550A>C (p.Arg184=)
c.544A>C (p.Arg182=)
11g.128839751T=CA2008251023KCNJ1c.493A= (p.Arg165=)
c.550A= (p.Arg184=)
c.544A= (p.Arg182=)
11g.128839752G>ACA477703369KCNJ1c.492C>T (p.Ser164=)
c.549C>T (p.Ser183=)
c.543C>T (p.Ser181=)
11g.128839752G>CCA477703370KCNJ1c.492C>G (p.Ser164=)
c.549C>G (p.Ser183=)
c.543C>G (p.Ser181=)
11g.128839752G>TCA477703372KCNJ1c.492C>A (p.Ser164=)
c.549C>A (p.Ser183=)
c.543C>A (p.Ser181=)
11g.128839752_128839756delCA2794083166KCNJ1c.488_492del (p.Ile163LysfsTer?)
c.545_549del (p.Ile182LysfsTer?)
c.539_543del (p.Ile180LysfsTer?)
11g.128839753G>ACA383244895KCNJ1c.491C>T (p.Ser164Phe)
c.548C>T (p.Ser183Phe)
c.542C>T (p.Ser181Phe)
11g.128839753G>CCA383244896KCNJ1c.491C>G (p.Ser164Cys)
c.548C>G (p.Ser183Cys)
c.542C>G (p.Ser181Cys)
 gnomAD v4 COSMIC
11g.128839753G>TCA383244897KCNJ1c.491C>A (p.Ser164Tyr)
c.548C>A (p.Ser183Tyr)
c.542C>A (p.Ser181Tyr)
11g.128839754A>CCA383244900KCNJ1c.490T>G (p.Ser164Ala)
c.547T>G (p.Ser183Ala)
c.541T>G (p.Ser181Ala)
11g.128839754A>GCA383244899KCNJ1c.490T>C (p.Ser164Pro)
c.547T>C (p.Ser183Pro)
c.541T>C (p.Ser181Pro)
11g.128839754A>TCA383244898KCNJ1c.490T>A (p.Ser164Thr)
c.547T>A (p.Ser183Thr)
c.541T>A (p.Ser181Thr)
11g.128839755G>ACA477703373KCNJ1c.489C>T (p.Ile163=)
c.546C>T (p.Ile182=)
c.540C>T (p.Ile180=)
11g.128839755G>CCA383244901KCNJ1c.489C>G (p.Ile163Met)
c.546C>G (p.Ile182Met)
c.540C>G (p.Ile180Met)
11g.128839755G>TCA477703375KCNJ1c.489C>A (p.Ile163=)
c.546C>A (p.Ile182=)
c.540C>A (p.Ile180=)
11g.128839756A>CCA383244902KCNJ1c.488T>G (p.Ile163Ser)
c.545T>G (p.Ile182Ser)
c.539T>G (p.Ile180Ser)
11g.128839756A>GCA383244903KCNJ1c.488T>C (p.Ile163Thr)
c.545T>C (p.Ile182Thr)
c.539T>C (p.Ile180Thr)
11g.128839756A>TCA383244904KCNJ1c.488T>A (p.Ile163Asn)
c.545T>A (p.Ile182Asn)
c.539T>A (p.Ile180Asn)
 gnomAD v4
11g.128839757T>ACA383244905KCNJ1c.487A>T (p.Ile163Phe)
c.544A>T (p.Ile182Phe)
c.538A>T (p.Ile180Phe)
11g.128839757T>CCA383244906KCNJ1c.487A>G (p.Ile163Val)
c.544A>G (p.Ile182Val)
c.538A>G (p.Ile180Val)
11g.128839757T>GCA383244907KCNJ1c.487A>C (p.Ile163Leu)
c.544A>C (p.Ile182Leu)
c.538A>C (p.Ile180Leu)
 dbSNP
11g.128839757T=CA2008251030KCNJ1c.487A= (p.Ile163=)
c.544A= (p.Ile182=)
c.538A= (p.Ile180=)
11g.128839758C>ACA383244908KCNJ1c.486G>T (p.Lys162Asn)
c.543G>T (p.Lys181Asn)
c.537G>T (p.Lys179Asn)
11g.128839758C>GCA383244909KCNJ1c.486G>C (p.Lys162Asn)
c.543G>C (p.Lys181Asn)
c.537G>C (p.Lys179Asn)
11g.128839758C>TCA477703379KCNJ1c.486G>A (p.Lys162=)
c.543G>A (p.Lys181=)
c.537G>A (p.Lys179=)
 ClinVar
11g.128839758_128839759delinsCTCA2008251033KCNJ1c.485_486delinsAG (p.Lys162=)
c.542_543delinsAG (p.Lys181=)
c.536_537delinsAG (p.Lys179=)
11g.128839759T>ACA383244910KCNJ1c.485A>T (p.Lys162Met)
c.542A>T (p.Lys181Met)
c.536A>T (p.Lys179Met)
11g.128839759T>CCA383244911KCNJ1c.485A>G (p.Lys162Arg)
c.542A>G (p.Lys181Arg)
c.536A>G (p.Lys179Arg)
11g.128839759T>GCA383244912KCNJ1c.485A>C (p.Lys162Thr)
c.542A>C (p.Lys181Thr)
c.536A>C (p.Lys179Thr)
11g.128839760delCA6357513KCNJ1c.485del (p.Lys162ArgfsTer19)
c.542del (p.Lys181ArgfsTer19)
c.536del (p.Lys179ArgfsTer19)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839760T>ACA383244915KCNJ1c.484A>T (p.Lys162Ter)
c.541A>T (p.Lys181Ter)
c.535A>T (p.Lys179Ter)
11g.128839760T>CCA383244914KCNJ1c.484A>G (p.Lys162Glu)
c.541A>G (p.Lys181Glu)
c.535A>G (p.Lys179Glu)
11g.128839760T>GCA383244913KCNJ1c.484A>C (p.Lys162Gln)
c.541A>C (p.Lys181Gln)
c.535A>C (p.Lys179Gln)
 gnomAD v4
11g.128839761G>ACA477703384KCNJ1c.483C>T (p.Ala161=)
c.540C>T (p.Ala180=)
c.534C>T (p.Ala178=)
11g.128839761G>CCA477703382KCNJ1c.483C>G (p.Ala161=)
c.540C>G (p.Ala180=)
c.534C>G (p.Ala178=)
11g.128839761G>TCA477703383KCNJ1c.483C>A (p.Ala161=)
c.540C>A (p.Ala180=)
c.534C>A (p.Ala178=)
11g.128839762G>ACA383244916KCNJ1c.482C>T (p.Ala161Val)
c.539C>T (p.Ala180Val)
c.533C>T (p.Ala178Val)
 dbSNP
11g.128839762G>CCA383244918KCNJ1c.482C>G (p.Ala161Gly)
c.539C>G (p.Ala180Gly)
c.533C>G (p.Ala178Gly)
11g.128839762G=CA2008251040KCNJ1c.482C= (p.Ala161=)
c.539C= (p.Ala180=)
c.533C= (p.Ala178=)
11g.128839762G>TCA383244917KCNJ1c.482C>A (p.Ala161Asp)
c.539C>A (p.Ala180Asp)
c.533C>A (p.Ala178Asp)
11g.128839763C>ACA383244919KCNJ1c.481G>T (p.Ala161Ser)
c.538G>T (p.Ala180Ser)
c.532G>T (p.Ala178Ser)
11g.128839763C=CA2008251044KCNJ1c.481G= (p.Ala161=)
c.538G= (p.Ala180=)
c.532G= (p.Ala178=)
11g.128839763C>GCA383244920KCNJ1c.481G>C (p.Ala161Pro)
c.538G>C (p.Ala180Pro)
c.532G>C (p.Ala178Pro)
11g.128839763C>TCA6357514KCNJ1c.481G>A (p.Ala161Thr)
c.538G>A (p.Ala180Thr)
c.532G>A (p.Ala178Thr)
 dbSNP ExAC gnomAD v2
11g.128839764T>ACA383244921KCNJ1c.480A>T (p.Leu160Phe)
c.537A>T (p.Leu179Phe)
c.531A>T (p.Leu177Phe)
 gnomAD v4
11g.128839764T>CCA477703387KCNJ1c.480A>G (p.Leu160=)
c.537A>G (p.Leu179=)
c.531A>G (p.Leu177=)
11g.128839764T>GCA383244922KCNJ1c.480A>C (p.Leu160Phe)
c.537A>C (p.Leu179Phe)
c.531A>C (p.Leu177Phe)
11g.128839765A>CCA383244923KCNJ1c.479T>G (p.Leu160Ter)
c.536T>G (p.Leu179Ter)
c.530T>G (p.Leu177Ter)
11g.128839765A>GCA383244924KCNJ1c.479T>C (p.Leu160Ser)
c.536T>C (p.Leu179Ser)
c.530T>C (p.Leu177Ser)
11g.128839765A>TCA383244925KCNJ1c.479T>A (p.Leu160Ter)
c.536T>A (p.Leu179Ter)
c.530T>A (p.Leu177Ter)
11g.128839766A>CCA383244926KCNJ1c.478T>G (p.Leu160Val)
c.535T>G (p.Leu179Val)
c.529T>G (p.Leu177Val)
11g.128839766A>GCA477703389KCNJ1c.478T>C (p.Leu160=)
c.535T>C (p.Leu179=)
c.529T>C (p.Leu177=)
11g.128839766A>TCA383244927KCNJ1c.478T>A (p.Leu160Ile)
c.535T>A (p.Leu179Ile)
c.529T>A (p.Leu177Ile)
11g.128839767G>ACA477703390KCNJ1c.477C>T (p.Ile159=)
c.534C>T (p.Ile178=)
c.528C>T (p.Ile176=)
11g.128839767G>CCA383244928KCNJ1c.477C>G (p.Ile159Met)
c.534C>G (p.Ile178Met)
c.528C>G (p.Ile176Met)
11g.128839767G>TCA477703391KCNJ1c.477C>A (p.Ile159=)
c.534C>A (p.Ile178=)
c.528C>A (p.Ile176=)
11g.128839768A>CCA383244929KCNJ1c.476T>G (p.Ile159Ser)
c.533T>G (p.Ile178Ser)
c.527T>G (p.Ile176Ser)
11g.128839768A>GCA383244930KCNJ1c.476T>C (p.Ile159Thr)
c.533T>C (p.Ile178Thr)
c.527T>C (p.Ile176Thr)
11g.128839768A>TCA383244931KCNJ1c.476T>A (p.Ile159Asn)
c.533T>A (p.Ile178Asn)
c.527T>A (p.Ile176Asn)
11g.128839769T>ACA383244934KCNJ1c.475A>T (p.Ile159Phe)
c.532A>T (p.Ile178Phe)
c.526A>T (p.Ile176Phe)
11g.128839769T>CCA383244933KCNJ1c.475A>G (p.Ile159Val)
c.532A>G (p.Ile178Val)
c.526A>G (p.Ile176Val)
 dbSNP gnomAD v4
11g.128839769T>GCA383244932KCNJ1c.475A>C (p.Ile159Leu)
c.532A>C (p.Ile178Leu)
c.526A>C (p.Ile176Leu)
11g.128839769T=CA2008251047KCNJ1c.475A= (p.Ile159=)
c.532A= (p.Ile178=)
c.526A= (p.Ile176=)
11g.128839769_128839770delCA2794083167KCNJ1c.474_475del (p.Ile159LeufsTer?)
c.531_532del (p.Ile178LeufsTer?)
c.525_526del (p.Ile176LeufsTer?)
11g.128839770G>ACA477703396KCNJ1c.474C>T (p.Ala158=)
c.531C>T (p.Ala177=)
c.525C>T (p.Ala175=)
 gnomAD v4
11g.128839770G>CCA477703398KCNJ1c.474C>G (p.Ala158=)
c.531C>G (p.Ala177=)
c.525C>G (p.Ala175=)
11g.128839770G=CA2008251050KCNJ1c.474C= (p.Ala158=)
c.531C= (p.Ala177=)
c.525C= (p.Ala175=)
11g.128839770G>TCA477703399KCNJ1c.474C>A (p.Ala158=)
c.531C>A (p.Ala177=)
c.525C>A (p.Ala175=)
 dbSNP
11g.128839771G>ACA383244935KCNJ1c.473C>T (p.Ala158Val)
c.530C>T (p.Ala177Val)
c.524C>T (p.Ala175Val)
11g.128839771G>CCA383244936KCNJ1c.473C>G (p.Ala158Gly)
c.530C>G (p.Ala177Gly)
c.524C>G (p.Ala175Gly)
11g.128839771G>TCA383244937KCNJ1c.473C>A (p.Ala158Asp)
c.530C>A (p.Ala177Asp)
c.524C>A (p.Ala175Asp)
11g.128839772C>ACA6357515KCNJ1c.472G>T (p.Ala158Ser)
c.529G>T (p.Ala177Ser)
c.523G>T (p.Ala175Ser)
 dbSNP ExAC gnomAD v2 COSMIC
11g.128839772C=CA2008251053KCNJ1c.472G= (p.Ala158=)
c.529G= (p.Ala177=)
c.523G= (p.Ala175=)
11g.128839772C>GCA383244939KCNJ1c.472G>C (p.Ala158Pro)
c.529G>C (p.Ala177Pro)
c.523G>C (p.Ala175Pro)
11g.128839772C>TCA383244941KCNJ1c.472G>A (p.Ala158Thr)
c.529G>A (p.Ala177Thr)
c.523G>A (p.Ala175Thr)
 ClinVar dbSNP gnomAD v4
11g.128839775dupCA2575025049KCNJ1c.472dup (p.Ala158GlyfsTer?)
c.529dup (p.Ala177GlyfsTer?)
c.523dup (p.Ala175GlyfsTer?)
11g.128839773C>ACA477703403KCNJ1c.471G>T (p.Gly157=)
c.528G>T (p.Gly176=)
c.522G>T (p.Gly174=)
11g.128839773C>GCA477703404KCNJ1c.471G>C (p.Gly157=)
c.528G>C (p.Gly176=)
c.522G>C (p.Gly174=)
11g.128839773C>TCA477703405KCNJ1c.471G>A (p.Gly157=)
c.528G>A (p.Gly176=)
c.522G>A (p.Gly174=)
 gnomAD v4 COSMIC
11g.128839773_128839783delCA2794083168KCNJ1c.461_471del (p.Phe154CysfsTer?)
c.518_528del (p.Phe173CysfsTer?)
c.512_522del (p.Phe171CysfsTer?)
11g.128839774C>ACA383244943KCNJ1c.470G>T (p.Gly157Val)
c.527G>T (p.Gly176Val)
c.521G>T (p.Gly174Val)
11g.128839774C>GCA383244945KCNJ1c.470G>C (p.Gly157Ala)
c.527G>C (p.Gly176Ala)
c.521G>C (p.Gly174Ala)
11g.128839774C>TCA383244946KCNJ1c.470G>A (p.Gly157Glu)
c.527G>A (p.Gly176Glu)
c.521G>A (p.Gly174Glu)
11g.128839775C>ACA383244949KCNJ1c.469G>T (p.Gly157Trp)
c.526G>T (p.Gly176Trp)
c.520G>T (p.Gly174Trp)
11g.128839775C>GCA383244950KCNJ1c.469G>C (p.Gly157Arg)
c.526G>C (p.Gly176Arg)
c.520G>C (p.Gly174Arg)
11g.128839775C>TCA383244951KCNJ1c.469G>A (p.Gly157Arg)
c.526G>A (p.Gly176Arg)
c.520G>A (p.Gly174Arg)
11g.128839776A>CCA383244954KCNJ1c.468T>G (p.Cys156Trp)
c.525T>G (p.Cys175Trp)
c.519T>G (p.Cys173Trp)
11g.128839776A>GCA477703407KCNJ1c.468T>C (p.Cys156=)
c.525T>C (p.Cys175=)
c.519T>C (p.Cys173=)
 gnomAD v4
11g.128839776A>TCA383244955KCNJ1c.468T>A (p.Cys156Ter)
c.525T>A (p.Cys175Ter)
c.519T>A (p.Cys173Ter)
11g.128839777C>ACA383244957KCNJ1c.467G>T (p.Cys156Phe)
c.524G>T (p.Cys175Phe)
c.518G>T (p.Cys173Phe)
11g.128839777C>GCA383244959KCNJ1c.467G>C (p.Cys156Ser)
c.524G>C (p.Cys175Ser)
c.518G>C (p.Cys173Ser)
11g.128839777C>TCA383244960KCNJ1c.467G>A (p.Cys156Tyr)
c.524G>A (p.Cys175Tyr)
c.518G>A (p.Cys173Tyr)
11g.128839778A>CCA383244962KCNJ1c.466T>G (p.Cys156Gly)
c.523T>G (p.Cys175Gly)
c.517T>G (p.Cys173Gly)
11g.128839778A>GCA383244964KCNJ1c.466T>C (p.Cys156Arg)
c.523T>C (p.Cys175Arg)
c.517T>C (p.Cys173Arg)
11g.128839778A>TCA383244965KCNJ1c.466T>A (p.Cys156Ser)
c.523T>A (p.Cys175Ser)
c.517T>A (p.Cys173Ser)
11g.128839779C>ACA6357516KCNJ1c.465G>T (p.Met155Ile)
c.522G>T (p.Met174Ile)
c.516G>T (p.Met172Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839779C=CA2008251061KCNJ1c.465G= (p.Met155=)
c.522G= (p.Met174=)
c.516G= (p.Met172=)
11g.128839779C>GCA383244969KCNJ1c.465G>C (p.Met155Ile)
c.522G>C (p.Met174Ile)
c.516G>C (p.Met172Ile)
11g.128839779C>TCA6357517KCNJ1c.465G>A (p.Met155Ile)
c.522G>A (p.Met174Ile)
c.516G>A (p.Met172Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839780A=CA2008251065KCNJ1c.464T= (p.Met155=)
c.521T= (p.Met174=)
c.515T= (p.Met172=)
11g.128839780A>CCA383244971KCNJ1c.464T>G (p.Met155Arg)
c.521T>G (p.Met174Arg)
c.515T>G (p.Met172Arg)
11g.128839780A>GCA230628631KCNJ1c.464T>C (p.Met155Thr)
c.521T>C (p.Met174Thr)
c.515T>C (p.Met172Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.128839780A>TCA383244973KCNJ1c.464T>A (p.Met155Lys)
c.521T>A (p.Met174Lys)
c.515T>A (p.Met172Lys)
11g.128839781T>ACA383244979KCNJ1c.463A>T (p.Met155Leu)
c.520A>T (p.Met174Leu)
c.514A>T (p.Met172Leu)
11g.128839781T>CCA383244976KCNJ1c.463A>G (p.Met155Val)
c.520A>G (p.Met174Val)
c.514A>G (p.Met172Val)
 dbSNP
11g.128839781T>GCA383244978KCNJ1c.463A>C (p.Met155Leu)
c.520A>C (p.Met174Leu)
c.514A>C (p.Met172Leu)
 gnomAD v4
11g.128839781T=CA2008251067KCNJ1c.463A= (p.Met155=)
c.520A= (p.Met174=)
c.514A= (p.Met172=)
11g.128839782G>ACA477703413KCNJ1c.462C>T (p.Phe154=)
c.519C>T (p.Phe173=)
c.513C>T (p.Phe171=)
 COSMIC
11g.128839782G>CCA383244981KCNJ1c.462C>G (p.Phe154Leu)
c.519C>G (p.Phe173Leu)
c.513C>G (p.Phe171Leu)
 COSMIC
11g.128839782G=CA2008251073KCNJ1c.462C= (p.Phe154=)
c.519C= (p.Phe173=)
c.513C= (p.Phe171=)
11g.128839782G>TCA6357518KCNJ1c.462C>A (p.Phe154Leu)
c.519C>A (p.Phe173Leu)
c.513C>A (p.Phe171Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839783A>CCA383244984KCNJ1c.461T>G (p.Phe154Cys)
c.518T>G (p.Phe173Cys)
c.512T>G (p.Phe171Cys)
11g.128839783A>GCA383244986KCNJ1c.461T>C (p.Phe154Ser)
c.518T>C (p.Phe173Ser)
c.512T>C (p.Phe171Ser)
11g.128839783A>TCA383244988KCNJ1c.461T>A (p.Phe154Tyr)
c.518T>A (p.Phe173Tyr)
c.512T>A (p.Phe171Tyr)
11g.128839784A>CCA383244990KCNJ1c.460T>G (p.Phe154Val)
c.517T>G (p.Phe173Val)
c.511T>G (p.Phe171Val)
 COSMIC
11g.128839784A>GCA383244992KCNJ1c.460T>C (p.Phe154Leu)
c.517T>C (p.Phe173Leu)
c.511T>C (p.Phe171Leu)
11g.128839784A>TCA383244993KCNJ1c.460T>A (p.Phe154Ile)
c.517T>A (p.Phe173Ile)
c.511T>A (p.Phe171Ile)
11g.128839785A>CCA477703415KCNJ1c.459T>G (p.Ser153=)
c.516T>G (p.Ser172=)
c.510T>G (p.Ser170=)
11g.128839785A>GCA477703416KCNJ1c.459T>C (p.Ser153=)
c.516T>C (p.Ser172=)
c.510T>C (p.Ser170=)
11g.128839785A>TCA477703418KCNJ1c.459T>A (p.Ser153=)
c.516T>A (p.Ser172=)
c.510T>A (p.Ser170=)
11g.128839786G>ACA383244995KCNJ1c.458C>T (p.Ser153Phe)
c.515C>T (p.Ser172Phe)
c.509C>T (p.Ser170Phe)
11g.128839786G>CCA383244997KCNJ1c.458C>G (p.Ser153Cys)
c.515C>G (p.Ser172Cys)
c.509C>G (p.Ser170Cys)
11g.128839786G>TCA383244999KCNJ1c.458C>A (p.Ser153Tyr)
c.515C>A (p.Ser172Tyr)
c.509C>A (p.Ser170Tyr)
 gnomAD v4 COSMIC
11g.128839786_128839787insGCTCA2794083169KCNJ1c.457_458insAGC (p.Ser153Ter)
c.514_515insAGC (p.Ser172Ter)
c.508_509insAGC (p.Ser170Ter)
11g.128839787A>CCA383245005KCNJ1c.457T>G (p.Ser153Ala)
c.514T>G (p.Ser172Ala)
c.508T>G (p.Ser170Ala)
11g.128839787A>GCA383245004KCNJ1c.457T>C (p.Ser153Pro)
c.514T>C (p.Ser172Pro)
c.508T>C (p.Ser170Pro)
11g.128839787A>TCA383245002KCNJ1c.457T>A (p.Ser153Thr)
c.514T>A (p.Ser172Thr)
c.508T>A (p.Ser170Thr)
11g.128839788A>CCA383245006KCNJ1c.456T>G (p.Asn152Lys)
c.513T>G (p.Asn171Lys)
c.507T>G (p.Asn169Lys)
11g.128839788A>GCA477703424KCNJ1c.456T>C (p.Asn152=)
c.513T>C (p.Asn171=)
c.507T>C (p.Asn169=)
11g.128839788A>TCA383245008KCNJ1c.456T>A (p.Asn152Lys)
c.513T>A (p.Asn171Lys)
c.507T>A (p.Asn169Lys)
11g.128839789T>ACA383245010KCNJ1c.455A>T (p.Asn152Ile)
c.512A>T (p.Asn171Ile)
c.506A>T (p.Asn169Ile)
11g.128839789T>CCA383245011KCNJ1c.455A>G (p.Asn152Ser)
c.512A>G (p.Asn171Ser)
c.506A>G (p.Asn169Ser)
11g.128839789T>GCA383245012KCNJ1c.455A>C (p.Asn152Thr)
c.512A>C (p.Asn171Thr)
c.506A>C (p.Asn169Thr)
11g.128839790T>ACA383245014KCNJ1c.454A>T (p.Asn152Tyr)
c.511A>T (p.Asn171Tyr)
c.505A>T (p.Asn169Tyr)
11g.128839790T>CCA383245016KCNJ1c.454A>G (p.Asn152Asp)
c.511A>G (p.Asn171Asp)
c.505A>G (p.Asn169Asp)
11g.128839790T>GCA383245017KCNJ1c.454A>C (p.Asn152His)
c.511A>C (p.Asn171His)
c.505A>C (p.Asn169His)
11g.128839790_128839798delCA2794083170KCNJ1c.446_454del (p.Val149_Asn152delinsAsp)
c.503_511del (p.Val168_Asn171delinsAsp)
c.497_505del (p.Val166_Asn169delinsAsp)
11g.128839791G>ACA477703430KCNJ1c.453C>T (p.Ile151=)
c.510C>T (p.Ile170=)
c.504C>T (p.Ile168=)
11g.128839791G>CCA383245019KCNJ1c.453C>G (p.Ile151Met)
c.510C>G (p.Ile170Met)
c.504C>G (p.Ile168Met)
 gnomAD v4
11g.128839791G=CA2008251077KCNJ1c.453C= (p.Ile151=)
c.510C= (p.Ile170=)
c.504C= (p.Ile168=)
11g.128839791G>TCA477703428KCNJ1c.453C>A (p.Ile151=)
c.510C>A (p.Ile170=)
c.504C>A (p.Ile168=)
 dbSNP
11g.128839792A>CCA383245020KCNJ1c.452T>G (p.Ile151Ser)
c.509T>G (p.Ile170Ser)
c.503T>G (p.Ile168Ser)
11g.128839792A>GCA383245022KCNJ1c.452T>C (p.Ile151Thr)
c.509T>C (p.Ile170Thr)
c.503T>C (p.Ile168Thr)
11g.128839792A>TCA383245023KCNJ1c.452T>A (p.Ile151Asn)
c.509T>A (p.Ile170Asn)
c.503T>A (p.Ile168Asn)
11g.128839793T>ACA383245025KCNJ1c.451A>T (p.Ile151Phe)
c.508A>T (p.Ile170Phe)
c.502A>T (p.Ile168Phe)
11g.128839793T>CCA6357519KCNJ1c.451A>G (p.Ile151Val)
c.508A>G (p.Ile170Val)
c.502A>G (p.Ile168Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839793T>GCA383245027KCNJ1c.451A>C (p.Ile151Leu)
c.508A>C (p.Ile170Leu)
c.502A>C (p.Ile168Leu)
11g.128839793T=CA2008251082KCNJ1c.451A= (p.Ile151=)
c.508A= (p.Ile170=)
c.502A= (p.Ile168=)
11g.128839794T>ACA477703433KCNJ1c.450A>T (p.Ile150=)
c.507A>T (p.Ile169=)
c.501A>T (p.Ile167=)
11g.128839794T>CCA383245029KCNJ1c.450A>G (p.Ile150Met)
c.507A>G (p.Ile169Met)
c.501A>G (p.Ile167Met)
11g.128839794T>GCA477703434KCNJ1c.450A>C (p.Ile150=)
c.507A>C (p.Ile169=)
c.501A>C (p.Ile167=)
 gnomAD v4
11g.128839795A=CA2008251087KCNJ1c.449T= (p.Ile150=)
c.506T= (p.Ile169=)
c.500T= (p.Ile167=)
11g.128839795A>CCA383245032KCNJ1c.449T>G (p.Ile150Arg)
c.506T>G (p.Ile169Arg)
c.500T>G (p.Ile167Arg)
11g.128839795A>GCA383245033KCNJ1c.449T>C (p.Ile150Thr)
c.506T>C (p.Ile169Thr)
c.500T>C (p.Ile167Thr)
 ClinVar dbSNP gnomAD v4
11g.128839795A>TCA383245034KCNJ1c.449T>A (p.Ile150Lys)
c.506T>A (p.Ile169Lys)
c.500T>A (p.Ile167Lys)
11g.128839796T>ACA383245037KCNJ1c.448A>T (p.Ile150Leu)
c.505A>T (p.Ile169Leu)
c.499A>T (p.Ile167Leu)
11g.128839796T>CCA6357520KCNJ1c.448A>G (p.Ile150Val)
c.505A>G (p.Ile169Val)
c.499A>G (p.Ile167Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839796T>GCA383245039KCNJ1c.448A>C (p.Ile150Leu)
c.505A>C (p.Ile169Leu)
c.499A>C (p.Ile167Leu)
11g.128839796T=CA2008251092KCNJ1c.448A= (p.Ile150=)
c.505A= (p.Ile169=)
c.499A= (p.Ile167=)
11g.128839797A=CA2008251095KCNJ1c.447T= (p.Val149=)
c.504T= (p.Val168=)
c.498T= (p.Val166=)
11g.128839797A>CCA477703443KCNJ1c.447T>G (p.Val149=)
c.504T>G (p.Val168=)
c.498T>G (p.Val166=)
 dbSNP
11g.128839797A>GCA477703444KCNJ1c.447T>C (p.Val149=)
c.504T>C (p.Val168=)
c.498T>C (p.Val166=)
11g.128839797A>TCA477703445KCNJ1c.447T>A (p.Val149=)
c.504T>A (p.Val168=)
c.498T>A (p.Val166=)
11g.128839798A>CCA383245041KCNJ1c.446T>G (p.Val149Gly)
c.503T>G (p.Val168Gly)
c.497T>G (p.Val166Gly)
11g.128839798A>GCA383245043KCNJ1c.446T>C (p.Val149Ala)
c.503T>C (p.Val168Ala)
c.497T>C (p.Val166Ala)
11g.128839798A>TCA383245044KCNJ1c.446T>A (p.Val149Asp)
c.503T>A (p.Val168Asp)
c.497T>A (p.Val166Asp)
11g.128839799C>ACA383245045KCNJ1c.445G>T (p.Val149Phe)
c.502G>T (p.Val168Phe)
c.496G>T (p.Val166Phe)
11g.128839799C=CA2008251097KCNJ1c.445G= (p.Val149=)
c.502G= (p.Val168=)
c.496G= (p.Val166=)
11g.128839799C>GCA383245046KCNJ1c.445G>C (p.Val149Leu)
c.502G>C (p.Val168Leu)
c.496G>C (p.Val166Leu)
11g.128839799C>TCA383245047KCNJ1c.445G>A (p.Val149Ile)
c.502G>A (p.Val168Ile)
c.496G>A (p.Val166Ile)
 dbSNP COSMIC
11g.128839800T>ACA477703447KCNJ1c.444A>T (p.Gly148=)
c.501A>T (p.Gly167=)
c.495A>T (p.Gly165=)
11g.128839800T>CCA477703449KCNJ1c.444A>G (p.Gly148=)
c.501A>G (p.Gly167=)
c.495A>G (p.Gly165=)
11g.128839800T>GCA477703450KCNJ1c.444A>C (p.Gly148=)
c.501A>C (p.Gly167=)
c.495A>C (p.Gly165=)
11g.128839801C>ACA383245052KCNJ1c.443G>T (p.Gly148Val)
c.500G>T (p.Gly167Val)
c.494G>T (p.Gly165Val)
11g.128839801C=CA2008251103KCNJ1c.443G= (p.Gly148=)
c.500G= (p.Gly167=)
c.494G= (p.Gly165=)
11g.128839801C>GCA383245050KCNJ1c.443G>C (p.Gly148Ala)
c.500G>C (p.Gly167Ala)
c.494G>C (p.Gly165Ala)
11g.128839801C>TCA120160KCNJ1c.443G>A (p.Gly148Glu)
c.500G>A (p.Gly167Glu)
c.494G>A (p.Gly165Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched