Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839837_128839850delinsGTGGCACACTGTTCCA2008251196KCNJ1c.394_407delinsGAACAGTGTGCCAC (p.Glu132=)
c.451_464delinsGAACAGTGTGCCAC (p.Glu151=)
c.445_458delinsGAACAGTGTGCCAC (p.Glu149=)
11g.128839840_128839852delCA2008251197KCNJ1c.394_406del (p.Glu132LeufsTer15)
c.394_406del (p.Glu132LeufsTer?)
c.451_463del (p.Glu151LeufsTer15)
c.445_457del (p.Glu149LeufsTer15)
 dbSNP
11g.128839840G>ACA383245291KCNJ1c.404C>T (p.Ala135Val)
c.461C>T (p.Ala154Val)
c.455C>T (p.Ala152Val)
 gnomAD v4
11g.128839840G>CCA383245292KCNJ1c.404C>G (p.Ala135Gly)
c.461C>G (p.Ala154Gly)
c.455C>G (p.Ala152Gly)
11g.128839840G>TCA383245294KCNJ1c.404C>A (p.Ala135Asp)
c.461C>A (p.Ala154Asp)
c.455C>A (p.Ala152Asp)
11g.128839841C>ACA383245297KCNJ1c.403G>T (p.Ala135Ser)
c.460G>T (p.Ala154Ser)
c.454G>T (p.Ala152Ser)
11g.128839841C>GCA383245298KCNJ1c.403G>C (p.Ala135Pro)
c.460G>C (p.Ala154Pro)
c.454G>C (p.Ala152Pro)
11g.128839841C>TCA383245301KCNJ1c.403G>A (p.Ala135Thr)
c.460G>A (p.Ala154Thr)
c.454G>A (p.Ala152Thr)
11g.128839842A>CCA383245303KCNJ1c.402T>G (p.Cys134Trp)
c.459T>G (p.Cys153Trp)
c.453T>G (p.Cys151Trp)
11g.128839842A>GCA477703515KCNJ1c.402T>C (p.Cys134=)
c.459T>C (p.Cys153=)
c.453T>C (p.Cys151=)
11g.128839842A>TCA383245305KCNJ1c.402T>A (p.Cys134Ter)
c.459T>A (p.Cys153Ter)
c.453T>A (p.Cys151Ter)
11g.128839843C>ACA383245310KCNJ1c.401G>T (p.Cys134Phe)
c.458G>T (p.Cys153Phe)
c.452G>T (p.Cys151Phe)
11g.128839843C>GCA383245326KCNJ1c.401G>C (p.Cys134Ser)
c.458G>C (p.Cys153Ser)
c.452G>C (p.Cys151Ser)
 gnomAD v4
11g.128839843C>TCA383245323KCNJ1c.401G>A (p.Cys134Tyr)
c.458G>A (p.Cys153Tyr)
c.452G>A (p.Cys151Tyr)
 gnomAD v4
11g.128839844A>CCA383245329KCNJ1c.400T>G (p.Cys134Gly)
c.457T>G (p.Cys153Gly)
c.451T>G (p.Cys151Gly)
11g.128839844A>GCA383245332KCNJ1c.400T>C (p.Cys134Arg)
c.457T>C (p.Cys153Arg)
c.451T>C (p.Cys151Arg)
 gnomAD v4
11g.128839844A>TCA383245335KCNJ1c.400T>A (p.Cys134Ser)
c.457T>A (p.Cys153Ser)
c.451T>A (p.Cys151Ser)
11g.128839844_128839845insTTGTCA2616771385KCNJ1c.399_400insACAA (p.Cys134ThrfsTer?)
c.456_457insACAA (p.Cys153ThrfsTer?)
c.450_451insACAA (p.Cys151ThrfsTer?)
 gnomAD v4
11g.128839845C>ACA383245337KCNJ1c.399G>T (p.Gln133His)
c.456G>T (p.Gln152His)
c.450G>T (p.Gln150His)
11g.128839845C=CA2008251201KCNJ1c.399G= (p.Gln133=)
c.456G= (p.Gln152=)
c.450G= (p.Gln150=)
11g.128839845C>GCA383245340KCNJ1c.399G>C (p.Gln133His)
c.456G>C (p.Gln152His)
c.450G>C (p.Gln150His)
 dbSNP gnomAD v2 gnomAD v4
11g.128839845C>TCA477703519KCNJ1c.399G>A (p.Gln133=)
c.456G>A (p.Gln152=)
c.450G>A (p.Gln150=)
 gnomAD v4
11g.128839846T>ACA383245346KCNJ1c.398A>T (p.Gln133Leu)
c.455A>T (p.Gln152Leu)
c.449A>T (p.Gln150Leu)
11g.128839846T>CCA383245348KCNJ1c.398A>G (p.Gln133Arg)
c.455A>G (p.Gln152Arg)
c.449A>G (p.Gln150Arg)
11g.128839846T>GCA383245352KCNJ1c.398A>C (p.Gln133Pro)
c.455A>C (p.Gln152Pro)
c.449A>C (p.Gln150Pro)
11g.128839847G>ACA383245353KCNJ1c.397C>T (p.Gln133Ter)
c.454C>T (p.Gln152Ter)
c.448C>T (p.Gln150Ter)
 gnomAD v4
11g.128839847G>CCA383245354KCNJ1c.397C>G (p.Gln133Glu)
c.454C>G (p.Gln152Glu)
c.448C>G (p.Gln150Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.128839847G=CA2008251202KCNJ1c.397C= (p.Gln133=)
c.454C= (p.Gln152=)
c.448C= (p.Gln150=)
11g.128839847G>TCA383245365KCNJ1c.397C>A (p.Gln133Lys)
c.454C>A (p.Gln152Lys)
c.448C>A (p.Gln150Lys)
11g.128839848T>ACA383245370KCNJ1c.396A>T (p.Glu132Asp)
c.453A>T (p.Glu151Asp)
c.447A>T (p.Glu149Asp)
11g.128839848T>CCA477703524KCNJ1c.396A>G (p.Glu132=)
c.453A>G (p.Glu151=)
c.447A>G (p.Glu149=)
11g.128839848T>GCA383245368KCNJ1c.396A>C (p.Glu132Asp)
c.453A>C (p.Glu151Asp)
c.447A>C (p.Glu149Asp)
11g.128839849T>ACA383245372KCNJ1c.395A>T (p.Glu132Val)
c.452A>T (p.Glu151Val)
c.446A>T (p.Glu149Val)
11g.128839849T>CCA383245373KCNJ1c.395A>G (p.Glu132Gly)
c.452A>G (p.Glu151Gly)
c.446A>G (p.Glu149Gly)
 gnomAD v4
11g.128839849T>GCA383245378KCNJ1c.395A>C (p.Glu132Ala)
c.452A>C (p.Glu151Ala)
c.446A>C (p.Glu149Ala)
11g.128839850C>ACA383245382KCNJ1c.394G>T (p.Glu132Ter)
c.451G>T (p.Glu151Ter)
c.445G>T (p.Glu149Ter)
11g.128839850C>GCA383245386KCNJ1c.394G>C (p.Glu132Gln)
c.451G>C (p.Glu151Gln)
c.445G>C (p.Glu149Gln)
11g.128839850C>TCA383245387KCNJ1c.394G>A (p.Glu132Lys)
c.451G>A (p.Glu151Lys)
c.445G>A (p.Glu149Lys)
 COSMIC
11g.128839851T>ACA477703530KCNJ1c.393A>T (p.Thr131=)
c.450A>T (p.Thr150=)
c.444A>T (p.Thr148=)
11g.128839851T>CCA477703533KCNJ1c.393A>G (p.Thr131=)
c.450A>G (p.Thr150=)
c.444A>G (p.Thr148=)
11g.128839851T>GCA477703532KCNJ1c.393A>C (p.Thr131=)
c.450A>C (p.Thr150=)
c.444A>C (p.Thr148=)
11g.128839852G>ACA383245390KCNJ1c.392C>T (p.Thr131Ile)
c.449C>T (p.Thr150Ile)
c.443C>T (p.Thr148Ile)
11g.128839852G>CCA6357528KCNJ1c.392C>G (p.Thr131Arg)
c.449C>G (p.Thr150Arg)
c.443C>G (p.Thr148Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839852G=CA2008251205KCNJ1c.392C= (p.Thr131=)
c.449C= (p.Thr150=)
c.443C= (p.Thr148=)
11g.128839852G>TCA383245393KCNJ1c.392C>A (p.Thr131Lys)
c.449C>A (p.Thr150Lys)
c.443C>A (p.Thr148Lys)
11g.128839853T>ACA383245397KCNJ1c.391A>T (p.Thr131Ser)
c.448A>T (p.Thr150Ser)
c.442A>T (p.Thr148Ser)
11g.128839853T>CCA383245399KCNJ1c.391A>G (p.Thr131Ala)
c.448A>G (p.Thr150Ala)
c.442A>G (p.Thr148Ala)
11g.128839853T>GCA383245403KCNJ1c.391A>C (p.Thr131Pro)
c.448A>C (p.Thr150Pro)
c.442A>C (p.Thr148Pro)
11g.128839854C>ACA477703535KCNJ1c.390G>T (p.Val130=)
c.447G>T (p.Val149=)
c.441G>T (p.Val147=)
11g.128839854C>GCA477703536KCNJ1c.390G>C (p.Val130=)
c.447G>C (p.Val149=)
c.441G>C (p.Val147=)
11g.128839854C>TCA477703537KCNJ1c.390G>A (p.Val130=)
c.447G>A (p.Val149=)
c.441G>A (p.Val147=)
11g.128839855A>CCA383245411KCNJ1c.389T>G (p.Val130Gly)
c.446T>G (p.Val149Gly)
c.440T>G (p.Val147Gly)
11g.128839855A>GCA383245412KCNJ1c.389T>C (p.Val130Ala)
c.446T>C (p.Val149Ala)
c.440T>C (p.Val147Ala)
11g.128839855A>TCA383245408KCNJ1c.389T>A (p.Val130Glu)
c.446T>A (p.Val149Glu)
c.440T>A (p.Val147Glu)
11g.128839855_128839856insGTGTTCAGGCA2695215887KCNJ1c.388_389insCCTGAACAC (p.Val130AlafsTer2)
c.445_446insCCTGAACAC (p.Val149AlafsTer2)
c.439_440insCCTGAACAC (p.Val147AlafsTer2)
11g.128839856C>ACA383245413KCNJ1c.388G>T (p.Val130Leu)
c.445G>T (p.Val149Leu)
c.439G>T (p.Val147Leu)
 gnomAD v4
11g.128839856C>GCA383245414KCNJ1c.388G>C (p.Val130Leu)
c.445G>C (p.Val149Leu)
c.439G>C (p.Val147Leu)
11g.128839856C>TCA383245415KCNJ1c.388G>A (p.Val130Met)
c.445G>A (p.Val149Met)
c.439G>A (p.Val147Met)
11g.128839857A>CCA383245418KCNJ1c.387T>G (p.Cys129Trp)
c.444T>G (p.Cys148Trp)
c.438T>G (p.Cys146Trp)
11g.128839857A>GCA477703542KCNJ1c.387T>C (p.Cys129=)
c.444T>C (p.Cys148=)
c.438T>C (p.Cys146=)
11g.128839857A>TCA383245440KCNJ1c.387T>A (p.Cys129Ter)
c.444T>A (p.Cys148Ter)
c.438T>A (p.Cys146Ter)
11g.128839858C>ACA383245448KCNJ1c.386G>T (p.Cys129Phe)
c.443G>T (p.Cys148Phe)
c.437G>T (p.Cys146Phe)
11g.128839858C=CA2008251212KCNJ1c.386G= (p.Cys129=)
c.443G= (p.Cys148=)
c.437G= (p.Cys146=)
11g.128839858C>GCA383245451KCNJ1c.386G>C (p.Cys129Ser)
c.443G>C (p.Cys148Ser)
c.437G>C (p.Cys146Ser)
11g.128839858C>TCA383245458KCNJ1c.386G>A (p.Cys129Tyr)
c.443G>A (p.Cys148Tyr)
c.437G>A (p.Cys146Tyr)
 dbSNP
11g.128839859A>CCA383245462KCNJ1c.385T>G (p.Cys129Gly)
c.442T>G (p.Cys148Gly)
c.436T>G (p.Cys146Gly)
11g.128839859A>GCA383245466KCNJ1c.385T>C (p.Cys129Arg)
c.442T>C (p.Cys148Arg)
c.436T>C (p.Cys146Arg)
 gnomAD v4
11g.128839859A>TCA383245470KCNJ1c.385T>A (p.Cys129Ser)
c.442T>A (p.Cys148Ser)
c.436T>A (p.Cys146Ser)
11g.128839860C>ACA383245475KCNJ1c.384G>T (p.Arg128Ser)
c.441G>T (p.Arg147Ser)
c.435G>T (p.Arg145Ser)
11g.128839860C>GCA383245478KCNJ1c.384G>C (p.Arg128Ser)
c.441G>C (p.Arg147Ser)
c.435G>C (p.Arg145Ser)
11g.128839860C>TCA477703549KCNJ1c.384G>A (p.Arg128=)
c.441G>A (p.Arg147=)
c.435G>A (p.Arg145=)
11g.128839861C>ACA383245483KCNJ1c.383G>T (p.Arg128Met)
c.440G>T (p.Arg147Met)
c.434G>T (p.Arg145Met)
11g.128839861C>GCA383245480KCNJ1c.383G>C (p.Arg128Thr)
c.440G>C (p.Arg147Thr)
c.434G>C (p.Arg145Thr)
11g.128839861C>TCA383245479KCNJ1c.383G>A (p.Arg128Lys)
c.440G>A (p.Arg147Lys)
c.434G>A (p.Arg145Lys)
 gnomAD v4
11g.128839862T>ACA383245485KCNJ1c.382A>T (p.Arg128Trp)
c.439A>T (p.Arg147Trp)
c.433A>T (p.Arg145Trp)
11g.128839862T>CCA383245487KCNJ1c.382A>G (p.Arg128Gly)
c.439A>G (p.Arg147Gly)
c.433A>G (p.Arg145Gly)
11g.128839862T>GCA477703553KCNJ1c.382A>C (p.Arg128=)
c.439A>C (p.Arg147=)
c.433A>C (p.Arg145=)
11g.128839863G>ACA477703554KCNJ1c.381C>T (p.Phe127=)
c.438C>T (p.Phe146=)
c.432C>T (p.Phe144=)
11g.128839863G>CCA383245490KCNJ1c.381C>G (p.Phe127Leu)
c.438C>G (p.Phe146Leu)
c.432C>G (p.Phe144Leu)
11g.128839863G>TCA383245492KCNJ1c.381C>A (p.Phe127Leu)
c.438C>A (p.Phe146Leu)
c.432C>A (p.Phe144Leu)
 gnomAD v4
11g.128839864A>CCA383245495KCNJ1c.380T>G (p.Phe127Cys)
c.437T>G (p.Phe146Cys)
c.431T>G (p.Phe144Cys)
11g.128839864A>GCA383245500KCNJ1c.380T>C (p.Phe127Ser)
c.437T>C (p.Phe146Ser)
c.431T>C (p.Phe144Ser)
11g.128839864A>TCA383245503KCNJ1c.380T>A (p.Phe127Tyr)
c.437T>A (p.Phe146Tyr)
c.431T>A (p.Phe144Tyr)
11g.128839865A>CCA383245513KCNJ1c.379T>G (p.Phe127Val)
c.436T>G (p.Phe146Val)
c.430T>G (p.Phe144Val)
11g.128839865A>GCA383245515KCNJ1c.379T>C (p.Phe127Leu)
c.436T>C (p.Phe146Leu)
c.430T>C (p.Phe144Leu)
11g.128839865A>TCA383245522KCNJ1c.379T>A (p.Phe127Ile)
c.436T>A (p.Phe146Ile)
c.430T>A (p.Phe144Ile)
11g.128839866T>ACA477703559KCNJ1c.378A>T (p.Gly126=)
c.435A>T (p.Gly145=)
c.429A>T (p.Gly143=)
11g.128839866T>CCA477703558KCNJ1c.378A>G (p.Gly126=)
c.435A>G (p.Gly145=)
c.429A>G (p.Gly143=)
11g.128839866T>GCA477703557KCNJ1c.378A>C (p.Gly126=)
c.435A>C (p.Gly145=)
c.429A>C (p.Gly143=)
11g.128839867C>ACA383245526KCNJ1c.377G>T (p.Gly126Val)
c.434G>T (p.Gly145Val)
c.428G>T (p.Gly143Val)
11g.128839867C>GCA383245531KCNJ1c.377G>C (p.Gly126Ala)
c.434G>C (p.Gly145Ala)
c.428G>C (p.Gly143Ala)
11g.128839867C>TCA383245536KCNJ1c.377G>A (p.Gly126Glu)
c.434G>A (p.Gly145Glu)
c.428G>A (p.Gly143Glu)
11g.128839868C>ACA383245548KCNJ1c.376G>T (p.Gly126Ter)
c.433G>T (p.Gly145Ter)
c.427G>T (p.Gly143Ter)
 gnomAD v4
11g.128839868C=CA2008251221KCNJ1c.376G= (p.Gly126=)
c.433G= (p.Gly145=)
c.427G= (p.Gly143=)
11g.128839868C>GCA383245544KCNJ1c.376G>C (p.Gly126Arg)
c.433G>C (p.Gly145Arg)
c.427G>C (p.Gly143Arg)
 gnomAD v4
11g.128839868C>TCA383245541KCNJ1c.376G>A (p.Gly126Arg)
c.433G>A (p.Gly145Arg)
c.427G>A (p.Gly143Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.128839869A>CCA383245553KCNJ1c.375T>G (p.Tyr125Ter)
c.432T>G (p.Tyr144Ter)
c.426T>G (p.Tyr142Ter)
11g.128839869A>GCA477703563KCNJ1c.375T>C (p.Tyr125=)
c.432T>C (p.Tyr144=)
c.426T>C (p.Tyr142=)
11g.128839869A>TCA383245555KCNJ1c.375T>A (p.Tyr125Ter)
c.432T>A (p.Tyr144Ter)
c.426T>A (p.Tyr142Ter)
11g.128839870T>ACA383245560KCNJ1c.374A>T (p.Tyr125Phe)
c.431A>T (p.Tyr144Phe)
c.425A>T (p.Tyr142Phe)
 gnomAD v4
11g.128839870T>CCA383245566KCNJ1c.374A>G (p.Tyr125Cys)
c.431A>G (p.Tyr144Cys)
c.425A>G (p.Tyr142Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.128839870T>GCA383245564KCNJ1c.374A>C (p.Tyr125Ser)
c.431A>C (p.Tyr144Ser)
c.425A>C (p.Tyr142Ser)
11g.128839870T=CA2008251228KCNJ1c.374A= (p.Tyr125=)
c.431A= (p.Tyr144=)
c.425A= (p.Tyr142=)
11g.128839871A>CCA383245570KCNJ1c.373T>G (p.Tyr125Asp)
c.430T>G (p.Tyr144Asp)
c.424T>G (p.Tyr142Asp)
11g.128839871A>GCA383245579KCNJ1c.373T>C (p.Tyr125His)
c.430T>C (p.Tyr144His)
c.424T>C (p.Tyr142His)
11g.128839871A>TCA383245581KCNJ1c.373T>A (p.Tyr125Asn)
c.430T>A (p.Tyr144Asn)
c.424T>A (p.Tyr142Asn)
11g.128839872T>ACA477703565KCNJ1c.372A>T (p.Gly124=)
c.429A>T (p.Gly143=)
c.423A>T (p.Gly141=)
11g.128839872T>CCA477703566KCNJ1c.372A>G (p.Gly124=)
c.429A>G (p.Gly143=)
c.423A>G (p.Gly141=)
11g.128839872T>GCA477703567KCNJ1c.372A>C (p.Gly124=)
c.429A>C (p.Gly143=)
c.423A>C (p.Gly141=)
11g.128839873C>ACA383245598KCNJ1c.371G>T (p.Gly124Val)
c.428G>T (p.Gly143Val)
c.422G>T (p.Gly141Val)
11g.128839873C=CA2008251232KCNJ1c.371G= (p.Gly124=)
c.428G= (p.Gly143=)
c.422G= (p.Gly141=)
11g.128839873C>GCA230628737KCNJ1c.371G>C (p.Gly124Ala)
c.428G>C (p.Gly143Ala)
c.422G>C (p.Gly141Ala)
 dbSNP
11g.128839873C>TCA383245605KCNJ1c.371G>A (p.Gly124Glu)
c.428G>A (p.Gly143Glu)
c.422G>A (p.Gly141Glu)
11g.128839874C>ACA383245611KCNJ1c.370G>T (p.Gly124Ter)
c.427G>T (p.Gly143Ter)
c.421G>T (p.Gly141Ter)
 COSMIC
11g.128839874C>GCA383245615KCNJ1c.370G>C (p.Gly124Arg)
c.427G>C (p.Gly143Arg)
c.421G>C (p.Gly141Arg)
11g.128839874C>TCA383245618KCNJ1c.370G>A (p.Gly124Arg)
c.427G>A (p.Gly143Arg)
c.421G>A (p.Gly141Arg)
11g.128839875A>CCA383245622KCNJ1c.369T>G (p.Ile123Met)
c.426T>G (p.Ile142Met)
c.420T>G (p.Ile140Met)
11g.128839875A>GCA477703570KCNJ1c.369T>C (p.Ile123=)
c.426T>C (p.Ile142=)
c.420T>C (p.Ile140=)
11g.128839875A>TCA477703571KCNJ1c.369T>A (p.Ile123=)
c.426T>A (p.Ile142=)
c.420T>A (p.Ile140=)
11g.128839876A>CCA383245623KCNJ1c.368T>G (p.Ile123Ser)
c.425T>G (p.Ile142Ser)
c.419T>G (p.Ile140Ser)
11g.128839876A>GCA383245624KCNJ1c.368T>C (p.Ile123Thr)
c.425T>C (p.Ile142Thr)
c.419T>C (p.Ile140Thr)
11g.128839876A>TCA383245625KCNJ1c.368T>A (p.Ile123Asn)
c.425T>A (p.Ile142Asn)
c.419T>A (p.Ile140Asn)
11g.128839877T>ACA383245628KCNJ1c.367A>T (p.Ile123Phe)
c.424A>T (p.Ile142Phe)
c.418A>T (p.Ile140Phe)
11g.128839877T>CCA383245635KCNJ1c.367A>G (p.Ile123Val)
c.424A>G (p.Ile142Val)
c.418A>G (p.Ile140Val)
11g.128839877T>GCA383245632KCNJ1c.367A>C (p.Ile123Leu)
c.424A>C (p.Ile142Leu)
c.418A>C (p.Ile140Leu)
11g.128839878G>ACA477703573KCNJ1c.366C>T (p.Thr122=)
c.423C>T (p.Thr141=)
c.417C>T (p.Thr139=)
11g.128839878G>CCA477703575KCNJ1c.366C>G (p.Thr122=)
c.423C>G (p.Thr141=)
c.417C>G (p.Thr139=)
11g.128839878G>TCA477703577KCNJ1c.366C>A (p.Thr122=)
c.423C>A (p.Thr141=)
c.417C>A (p.Thr139=)
11g.128839879G>ACA6357529KCNJ1c.365C>T (p.Thr122Ile)
c.422C>T (p.Thr141Ile)
c.416C>T (p.Thr139Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839879G>CCA383245645KCNJ1c.365C>G (p.Thr122Ser)
c.422C>G (p.Thr141Ser)
c.416C>G (p.Thr139Ser)
11g.128839879G=CA2008251236KCNJ1c.365C= (p.Thr122=)
c.422C= (p.Thr141=)
c.416C= (p.Thr139=)
11g.128839879G>TCA383245648KCNJ1c.365C>A (p.Thr122Asn)
c.422C>A (p.Thr141Asn)
c.416C>A (p.Thr139Asn)
11g.128839880T>ACA383245657KCNJ1c.364A>T (p.Thr122Ser)
c.421A>T (p.Thr141Ser)
c.415A>T (p.Thr139Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839880T>CCA383245658KCNJ1c.364A>G (p.Thr122Ala)
c.421A>G (p.Thr141Ala)
c.415A>G (p.Thr139Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.128839880T>GCA383245659KCNJ1c.364A>C (p.Thr122Pro)
c.421A>C (p.Thr141Pro)
c.415A>C (p.Thr139Pro)
11g.128839880T=CA2008251238KCNJ1c.364A= (p.Thr122=)
c.421A= (p.Thr141=)
c.415A= (p.Thr139=)
11g.128839881C>ACA477703580KCNJ1c.363G>T (p.Val121=)
c.420G>T (p.Val140=)
c.414G>T (p.Val138=)
11g.128839881C=CA2008251240KCNJ1c.363G= (p.Val121=)
c.420G= (p.Val140=)
c.414G= (p.Val138=)
11g.128839881C>GCA477703581KCNJ1c.363G>C (p.Val121=)
c.420G>C (p.Val140=)
c.414G>C (p.Val138=)
11g.128839881C>TCA6357530KCNJ1c.363G>A (p.Val121=)
c.420G>A (p.Val140=)
c.414G>A (p.Val138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839882A>CCA383245663KCNJ1c.362T>G (p.Val121Gly)
c.419T>G (p.Val140Gly)
c.413T>G (p.Val138Gly)
11g.128839882A>GCA383245668KCNJ1c.362T>C (p.Val121Ala)
c.419T>C (p.Val140Ala)
c.413T>C (p.Val138Ala)
11g.128839882A>TCA383245671KCNJ1c.362T>A (p.Val121Glu)
c.419T>A (p.Val140Glu)
c.413T>A (p.Val138Glu)
11g.128839883C>ACA383245678KCNJ1c.361G>T (p.Val121Leu)
c.418G>T (p.Val140Leu)
c.412G>T (p.Val138Leu)
 gnomAD v4
11g.128839883C=CA2008251252KCNJ1c.361G= (p.Val121=)
c.418G= (p.Val140=)
c.412G= (p.Val138=)
11g.128839883C>GCA383245677KCNJ1c.361G>C (p.Val121Leu)
c.418G>C (p.Val140Leu)
c.412G>C (p.Val138Leu)
11g.128839883C>TCA383245675KCNJ1c.361G>A (p.Val121Met)
c.418G>A (p.Val140Met)
c.412G>A (p.Val138Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839884T>ACA383245682KCNJ1c.360A>T (p.Gln120His)
c.417A>T (p.Gln139His)
c.411A>T (p.Gln137His)
11g.128839884T>CCA477703583KCNJ1c.360A>G (p.Gln120=)
c.417A>G (p.Gln139=)
c.411A>G (p.Gln137=)
11g.128839884T>GCA383245685KCNJ1c.360A>C (p.Gln120His)
c.417A>C (p.Gln139His)
c.411A>C (p.Gln137His)
11g.128839885T>ACA383245690KCNJ1c.359A>T (p.Gln120Leu)
c.416A>T (p.Gln139Leu)
c.410A>T (p.Gln137Leu)
11g.128839885T>CCA383245693KCNJ1c.359A>G (p.Gln120Arg)
c.416A>G (p.Gln139Arg)
c.410A>G (p.Gln137Arg)
11g.128839885T>GCA383245696KCNJ1c.359A>C (p.Gln120Pro)
c.416A>C (p.Gln139Pro)
c.410A>C (p.Gln137Pro)
11g.128839886G>ACA383245699KCNJ1c.358C>T (p.Gln120Ter)
c.415C>T (p.Gln139Ter)
c.409C>T (p.Gln137Ter)
11g.128839886G>CCA383245701KCNJ1c.358C>G (p.Gln120Glu)
c.415C>G (p.Gln139Glu)
c.409C>G (p.Gln137Glu)
11g.128839886G>TCA383245709KCNJ1c.358C>A (p.Gln120Lys)
c.415C>A (p.Gln139Lys)
c.409C>A (p.Gln137Lys)
11g.128839887A>CCA477703585KCNJ1c.357T>G (p.Thr119=)
c.414T>G (p.Thr138=)
c.408T>G (p.Thr136=)
11g.128839887A>GCA477703586KCNJ1c.357T>C (p.Thr119=)
c.414T>C (p.Thr138=)
c.408T>C (p.Thr136=)
 gnomAD v4
11g.128839887A>TCA477703587KCNJ1c.357T>A (p.Thr119=)
c.414T>A (p.Thr138=)
c.408T>A (p.Thr136=)
11g.128839888G>ACA383245714KCNJ1c.356C>T (p.Thr119Ile)
c.413C>T (p.Thr138Ile)
c.407C>T (p.Thr136Ile)
11g.128839888G>CCA383245715KCNJ1c.356C>G (p.Thr119Ser)
c.413C>G (p.Thr138Ser)
c.407C>G (p.Thr136Ser)
11g.128839888G>TCA383245718KCNJ1c.356C>A (p.Thr119Asn)
c.413C>A (p.Thr138Asn)
c.407C>A (p.Thr136Asn)
11g.128839889T>ACA383245719KCNJ1c.355A>T (p.Thr119Ser)
c.412A>T (p.Thr138Ser)
c.406A>T (p.Thr136Ser)
11g.128839889T>CCA383245720KCNJ1c.355A>G (p.Thr119Ala)
c.412A>G (p.Thr138Ala)
c.406A>G (p.Thr136Ala)
11g.128839889T>GCA383245724KCNJ1c.355A>C (p.Thr119Pro)
c.412A>C (p.Thr138Pro)
c.406A>C (p.Thr136Pro)
11g.128839890C>ACA383245729KCNJ1c.354G>T (p.Glu118Asp)
c.411G>T (p.Glu137Asp)
c.405G>T (p.Glu135Asp)
 ClinVar dbSNP
11g.128839890C=CA2008251260KCNJ1c.354G= (p.Glu118=)
c.411G= (p.Glu137=)
c.405G= (p.Glu135=)
11g.128839890C>GCA383245731KCNJ1c.354G>C (p.Glu118Asp)
c.411G>C (p.Glu137Asp)
c.405G>C (p.Glu135Asp)
11g.128839890C>TCA477703592KCNJ1c.354G>A (p.Glu118=)
c.411G>A (p.Glu137=)
c.405G>A (p.Glu135=)
11g.128839891T>ACA383245736KCNJ1c.353A>T (p.Glu118Val)
c.410A>T (p.Glu137Val)
c.404A>T (p.Glu135Val)
11g.128839891T>CCA383245737KCNJ1c.353A>G (p.Glu118Gly)
c.410A>G (p.Glu137Gly)
c.404A>G (p.Glu135Gly)
11g.128839891T>GCA383245742KCNJ1c.353A>C (p.Glu118Ala)
c.410A>C (p.Glu137Ala)
c.404A>C (p.Glu135Ala)
11g.128839892C>ACA383245746KCNJ1c.352G>T (p.Glu118Ter)
c.409G>T (p.Glu137Ter)
c.403G>T (p.Glu135Ter)
11g.128839892C>GCA383245749KCNJ1c.352G>C (p.Glu118Gln)
c.409G>C (p.Glu137Gln)
c.403G>C (p.Glu135Gln)
11g.128839892C>TCA383245750KCNJ1c.352G>A (p.Glu118Lys)
c.409G>A (p.Glu137Lys)
c.403G>A (p.Glu135Lys)
11g.128839893C>ACA477703594KCNJ1c.351G>T (p.Leu117=)
c.408G>T (p.Leu136=)
c.402G>T (p.Leu134=)
11g.128839893C>GCA477703595KCNJ1c.351G>C (p.Leu117=)
c.408G>C (p.Leu136=)
c.402G>C (p.Leu134=)
11g.128839893C>TCA477703596KCNJ1c.351G>A (p.Leu117=)
c.408G>A (p.Leu136=)
c.402G>A (p.Leu134=)
11g.128839894A>CCA383245751KCNJ1c.350T>G (p.Leu117Arg)
c.407T>G (p.Leu136Arg)
c.401T>G (p.Leu134Arg)
11g.128839894A>GCA383245753KCNJ1c.350T>C (p.Leu117Pro)
c.407T>C (p.Leu136Pro)
c.401T>C (p.Leu134Pro)
11g.128839894A>TCA383245754KCNJ1c.350T>A (p.Leu117Gln)
c.407T>A (p.Leu136Gln)
c.401T>A (p.Leu134Gln)
11g.128839895G>ACA477703597KCNJ1c.349C>T (p.Leu117=)
c.406C>T (p.Leu136=)
c.400C>T (p.Leu134=)
 ClinVar gnomAD v4
11g.128839895G>CCA383245755KCNJ1c.349C>G (p.Leu117Val)
c.406C>G (p.Leu136Val)
c.400C>G (p.Leu134Val)
11g.128839895G>TCA383245756KCNJ1c.349C>A (p.Leu117Met)
c.406C>A (p.Leu136Met)
c.400C>A (p.Leu134Met)
11g.128839896A>CCA477703598KCNJ1c.348T>G (p.Ser116=)
c.405T>G (p.Ser135=)
c.399T>G (p.Ser133=)
11g.128839896A>GCA477703599KCNJ1c.348T>C (p.Ser116=)
c.405T>C (p.Ser135=)
c.399T>C (p.Ser133=)
11g.128839896A>TCA477703600KCNJ1c.348T>A (p.Ser116=)
c.405T>A (p.Ser135=)
c.399T>A (p.Ser133=)
11g.128839897G>ACA383245760KCNJ1c.347C>T (p.Ser116Phe)
c.404C>T (p.Ser135Phe)
c.398C>T (p.Ser133Phe)
11g.128839897G>CCA383245759KCNJ1c.347C>G (p.Ser116Cys)
c.404C>G (p.Ser135Cys)
c.398C>G (p.Ser133Cys)
11g.128839897G>TCA383245758KCNJ1c.347C>A (p.Ser116Tyr)
c.404C>A (p.Ser135Tyr)
c.398C>A (p.Ser133Tyr)
11g.128839898A>CCA383245762KCNJ1c.346T>G (p.Ser116Ala)
c.403T>G (p.Ser135Ala)
c.397T>G (p.Ser133Ala)
11g.128839898A>GCA383245764KCNJ1c.346T>C (p.Ser116Pro)
c.403T>C (p.Ser135Pro)
c.397T>C (p.Ser133Pro)
11g.128839898A>TCA383245766KCNJ1c.346T>A (p.Ser116Thr)
c.403T>A (p.Ser135Thr)
c.397T>A (p.Ser133Thr)
11g.128839899A>CCA383245775KCNJ1c.345T>G (p.Phe115Leu)
c.402T>G (p.Phe134Leu)
c.396T>G (p.Phe132Leu)
11g.128839899A>GCA477703601KCNJ1c.345T>C (p.Phe115=)
c.402T>C (p.Phe134=)
c.396T>C (p.Phe132=)
11g.128839899A>TCA383245778KCNJ1c.345T>A (p.Phe115Leu)
c.402T>A (p.Phe134Leu)
c.396T>A (p.Phe132Leu)
11g.128839900A>CCA383245785KCNJ1c.344T>G (p.Phe115Cys)
c.401T>G (p.Phe134Cys)
c.395T>G (p.Phe132Cys)
11g.128839900A>GCA383245791KCNJ1c.344T>C (p.Phe115Ser)
c.401T>C (p.Phe134Ser)
c.395T>C (p.Phe132Ser)
11g.128839900A>TCA383245795KCNJ1c.344T>A (p.Phe115Tyr)
c.401T>A (p.Phe134Tyr)
c.395T>A (p.Phe132Tyr)
11g.128839901A>CCA383245803KCNJ1c.343T>G (p.Phe115Val)
c.400T>G (p.Phe134Val)
c.394T>G (p.Phe132Val)
11g.128839901A>GCA383245806KCNJ1c.343T>C (p.Phe115Leu)
c.400T>C (p.Phe134Leu)
c.394T>C (p.Phe132Leu)
11g.128839901A>TCA383245815KCNJ1c.343T>A (p.Phe115Ile)
c.400T>A (p.Phe134Ile)
c.394T>A (p.Phe132Ile)
11g.128839902C>ACA477703604KCNJ1c.342G>T (p.Leu114=)
c.399G>T (p.Leu133=)
c.393G>T (p.Leu131=)
11g.128839902C=CA2008251264KCNJ1c.342G= (p.Leu114=)
c.399G= (p.Leu133=)
c.393G= (p.Leu131=)
11g.128839902C>GCA477703606KCNJ1c.342G>C (p.Leu114=)
c.399G>C (p.Leu133=)
c.393G>C (p.Leu131=)
11g.128839902C>TCA477703607KCNJ1c.342G>A (p.Leu114=)
c.399G>A (p.Leu133=)
c.393G>A (p.Leu131=)
 dbSNP gnomAD v4
11g.128839903A>CCA383245817KCNJ1c.341T>G (p.Leu114Arg)
c.398T>G (p.Leu133Arg)
c.392T>G (p.Leu131Arg)
 gnomAD v4
11g.128839903A>GCA383245821KCNJ1c.341T>C (p.Leu114Pro)
c.398T>C (p.Leu133Pro)
c.392T>C (p.Leu131Pro)
11g.128839903A>TCA383245823KCNJ1c.341T>A (p.Leu114Gln)
c.398T>A (p.Leu133Gln)
c.392T>A (p.Leu131Gln)
11g.128839904G>ACA477703608KCNJ1c.340C>T (p.Leu114=)
c.397C>T (p.Leu133=)
c.391C>T (p.Leu131=)
11g.128839904G>CCA383245831KCNJ1c.340C>G (p.Leu114Val)
c.397C>G (p.Leu133Val)
c.391C>G (p.Leu131Val)
11g.128839904G>TCA383245828KCNJ1c.340C>A (p.Leu114Met)
c.397C>A (p.Leu133Met)
c.391C>A (p.Leu131Met)
11g.128839905A=CA2008251268KCNJ1c.339T= (p.Phe113=)
c.396T= (p.Phe132=)
c.390T= (p.Phe130=)
11g.128839905A>CCA383245838KCNJ1c.339T>G (p.Phe113Leu)
c.396T>G (p.Phe132Leu)
c.390T>G (p.Phe130Leu)
 dbSNP gnomAD v4
11g.128839905A>GCA477703609KCNJ1c.339T>C (p.Phe113=)
c.396T>C (p.Phe132=)
c.390T>C (p.Phe130=)
11g.128839905A>TCA383245841KCNJ1c.339T>A (p.Phe113Leu)
c.396T>A (p.Phe132Leu)
c.390T>A (p.Phe130Leu)
11g.128839906A=CA2008251271KCNJ1c.338T= (p.Phe113=)
c.395T= (p.Phe132=)
c.389T= (p.Phe130=)
11g.128839906A>CCA383245845KCNJ1c.338T>G (p.Phe113Cys)
c.395T>G (p.Phe132Cys)
c.389T>G (p.Phe130Cys)
11g.128839906A>GCA383245848KCNJ1c.338T>C (p.Phe113Ser)
c.395T>C (p.Phe132Ser)
c.389T>C (p.Phe130Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.128839906A>TCA383245852KCNJ1c.338T>A (p.Phe113Tyr)
c.395T>A (p.Phe132Tyr)
c.389T>A (p.Phe130Tyr)
11g.128839907A=CA2008251272KCNJ1c.337T= (p.Phe113=)
c.394T= (p.Phe132=)
c.388T= (p.Phe130=)
11g.128839907A>CCA383245863KCNJ1c.337T>G (p.Phe113Val)
c.394T>G (p.Phe132Val)
c.388T>G (p.Phe130Val)
11g.128839907A>GCA6357531KCNJ1c.337T>C (p.Phe113Leu)
c.394T>C (p.Phe132Leu)
c.388T>C (p.Phe130Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839907A>TCA383245858KCNJ1c.337T>A (p.Phe113Ile)
c.394T>A (p.Phe132Ile)
c.388T>A (p.Phe130Ile)
11g.128839908A>CCA477703613KCNJ1c.336T>G (p.Ala112=)
c.393T>G (p.Ala131=)
c.387T>G (p.Ala129=)
11g.128839908A>GCA477703614KCNJ1c.336T>C (p.Ala112=)
c.393T>C (p.Ala131=)
c.387T>C (p.Ala129=)
11g.128839908A>TCA477703615KCNJ1c.336T>A (p.Ala112=)
c.393T>A (p.Ala131=)
c.387T>A (p.Ala129=)
11g.128839909G>ACA383245867KCNJ1c.335C>T (p.Ala112Val)
c.392C>T (p.Ala131Val)
c.386C>T (p.Ala129Val)
11g.128839909G>CCA383245871KCNJ1c.335C>G (p.Ala112Gly)
c.392C>G (p.Ala131Gly)
c.386C>G (p.Ala129Gly)
 gnomAD v4
11g.128839909G>TCA383245874KCNJ1c.335C>A (p.Ala112Asp)
c.392C>A (p.Ala131Asp)
c.386C>A (p.Ala129Asp)
11g.128839910C>ACA383245879KCNJ1c.334G>T (p.Ala112Ser)
c.391G>T (p.Ala131Ser)
c.385G>T (p.Ala129Ser)
11g.128839910C>GCA383245882KCNJ1c.334G>C (p.Ala112Pro)
c.391G>C (p.Ala131Pro)
c.385G>C (p.Ala129Pro)
11g.128839910C>TCA383245886KCNJ1c.334G>A (p.Ala112Thr)
c.391G>A (p.Ala131Thr)
c.385G>A (p.Ala129Thr)
11g.128839911T>ACA477703620KCNJ1c.333A>T (p.Ser111=)
c.390A>T (p.Ser130=)
c.384A>T (p.Ser128=)
11g.128839911T>CCA477703621KCNJ1c.333A>G (p.Ser111=)
c.390A>G (p.Ser130=)
c.384A>G (p.Ser128=)
11g.128839911T>GCA477703623KCNJ1c.333A>C (p.Ser111=)
c.390A>C (p.Ser130=)
c.384A>C (p.Ser128=)
 dbSNP
11g.128839911T=CA2008251276KCNJ1c.333A= (p.Ser111=)
c.390A= (p.Ser130=)
c.384A= (p.Ser128=)
11g.128839912G>ACA383245892KCNJ1c.332C>T (p.Ser111Leu)
c.389C>T (p.Ser130Leu)
c.383C>T (p.Ser128Leu)
11g.128839912G>CCA383245897KCNJ1c.332C>G (p.Ser111Ter)
c.389C>G (p.Ser130Ter)
c.383C>G (p.Ser128Ter)
11g.128839912G>TCA383245894KCNJ1c.332C>A (p.Ser111Ter)
c.389C>A (p.Ser130Ter)
c.383C>A (p.Ser128Ter)
11g.128839913A>CCA383245904KCNJ1c.331T>G (p.Ser111Ala)
c.388T>G (p.Ser130Ala)
c.382T>G (p.Ser128Ala)
11g.128839913A>GCA383245906KCNJ1c.331T>C (p.Ser111Pro)
c.388T>C (p.Ser130Pro)
c.382T>C (p.Ser128Pro)
11g.128839913A>TCA383245911KCNJ1c.331T>A (p.Ser111Thr)
c.388T>A (p.Ser130Thr)
c.382T>A (p.Ser128Thr)
11g.128839914G>ACA230628761KCNJ1c.330C>T (p.Thr110=)
c.387C>T (p.Thr129=)
c.381C>T (p.Thr127=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.128839914G>CCA477703031KCNJ1c.330C>G (p.Thr110=)
c.387C>G (p.Thr129=)
c.381C>G (p.Thr127=)
11g.128839914G=CA2008251277KCNJ1c.330C= (p.Thr110=)
c.387C= (p.Thr129=)
c.381C= (p.Thr127=)
11g.128839914G>TCA477703032KCNJ1c.330C>A (p.Thr110=)
c.387C>A (p.Thr129=)
c.381C>A (p.Thr127=)
11g.128839915G>ACA6357532KCNJ1c.329C>T (p.Thr110Ile)
c.386C>T (p.Thr129Ile)
c.380C>T (p.Thr127Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839915G>CCA383245940KCNJ1c.329C>G (p.Thr110Ser)
c.386C>G (p.Thr129Ser)
c.380C>G (p.Thr127Ser)
11g.128839915G=CA2008251280KCNJ1c.329C= (p.Thr110=)
c.386C= (p.Thr129=)
c.380C= (p.Thr127=)
11g.128839915G>TCA383245942KCNJ1c.329C>A (p.Thr110Asn)
c.386C>A (p.Thr129Asn)
c.380C>A (p.Thr127Asn)
11g.128839916T>ACA383245944KCNJ1c.328A>T (p.Thr110Ser)
c.385A>T (p.Thr129Ser)
c.379A>T (p.Thr127Ser)
 gnomAD v4
11g.128839916T>CCA6357533KCNJ1c.328A>G (p.Thr110Ala)
c.385A>G (p.Thr129Ala)
c.379A>G (p.Thr127Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839916T>GCA383245950KCNJ1c.328A>C (p.Thr110Pro)
c.385A>C (p.Thr129Pro)
c.379A>C (p.Thr127Pro)
11g.128839916T=CA2008251285KCNJ1c.328A= (p.Thr110=)
c.385A= (p.Thr129=)
c.379A= (p.Thr127=)
11g.128839917C>ACA383245956KCNJ1c.327G>T (p.Leu109Phe)
c.384G>T (p.Leu128Phe)
c.378G>T (p.Leu126Phe)
 dbSNP gnomAD v2
11g.128839917C=CA2008251286KCNJ1c.327G= (p.Leu109=)
c.384G= (p.Leu128=)
c.378G= (p.Leu126=)
11g.128839917C>GCA383245964KCNJ1c.327G>C (p.Leu109Phe)
c.384G>C (p.Leu128Phe)
c.378G>C (p.Leu126Phe)
11g.128839917C>TCA477703035KCNJ1c.327G>A (p.Leu109=)
c.384G>A (p.Leu128=)
c.378G>A (p.Leu126=)
11g.128839918A=CA2008251287KCNJ1c.326T= (p.Leu109=)
c.383T= (p.Leu128=)
c.377T= (p.Leu126=)
11g.128839918A>CCA383245967KCNJ1c.326T>G (p.Leu109Trp)
c.383T>G (p.Leu128Trp)
c.377T>G (p.Leu126Trp)
11g.128839918A>GCA383245968KCNJ1c.326T>C (p.Leu109Ser)
c.383T>C (p.Leu128Ser)
c.377T>C (p.Leu126Ser)
 dbSNP gnomAD v2
11g.128839918A>TCA383245969KCNJ1c.326T>A (p.Leu109Ter)
c.383T>A (p.Leu128Ter)
c.377T>A (p.Leu126Ter)
11g.128839919A>CCA383245971KCNJ1c.325T>G (p.Leu109Val)
c.382T>G (p.Leu128Val)
c.376T>G (p.Leu126Val)
11g.128839919A>GCA477703039KCNJ1c.325T>C (p.Leu109=)
c.382T>C (p.Leu128=)
c.376T>C (p.Leu126=)
11g.128839919A>TCA383245974KCNJ1c.325T>A (p.Leu109Met)
c.382T>A (p.Leu128Met)
c.376T>A (p.Leu126Met)
11g.128839920G>ACA477703042KCNJ1c.324C>T (p.Gly108=)
c.381C>T (p.Gly127=)
c.375C>T (p.Gly125=)
 gnomAD v4
11g.128839920G>CCA477703040KCNJ1c.324C>G (p.Gly108=)
c.381C>G (p.Gly127=)
c.375C>G (p.Gly125=)
11g.128839920G>TCA477703041KCNJ1c.324C>A (p.Gly108=)
c.381C>A (p.Gly127=)
c.375C>A (p.Gly125=)
11g.128839921C>ACA383245986KCNJ1c.323G>T (p.Gly108Val)
c.380G>T (p.Gly127Val)
c.374G>T (p.Gly125Val)
11g.128839921C=CA2008251290KCNJ1c.323G= (p.Gly108=)
c.380G= (p.Gly127=)
c.374G= (p.Gly125=)
11g.128839921C>GCA383245988KCNJ1c.323G>C (p.Gly108Ala)
c.380G>C (p.Gly127Ala)
c.374G>C (p.Gly125Ala)
11g.128839921C>TCA383245991KCNJ1c.323G>A (p.Gly108Asp)
c.380G>A (p.Gly127Asp)
c.374G>A (p.Gly125Asp)
 dbSNP gnomAD v4
11g.128839922C>ACA383245995KCNJ1c.322G>T (p.Gly108Cys)
c.379G>T (p.Gly127Cys)
c.373G>T (p.Gly125Cys)
11g.128839922C=CA2008251293KCNJ1c.322G= (p.Gly108=)
c.379G= (p.Gly127=)
c.373G= (p.Gly125=)
11g.128839922C>GCA383245999KCNJ1c.322G>C (p.Gly108Arg)
c.379G>C (p.Gly127Arg)
c.373G>C (p.Gly125Arg)
11g.128839922C>TCA6357534KCNJ1c.322G>A (p.Gly108Ser)
c.379G>A (p.Gly127Ser)
c.373G>A (p.Gly125Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839923A=CA2008251297KCNJ1c.321T= (p.Asn107=)
c.378T= (p.Asn126=)
c.372T= (p.Asn124=)
11g.128839923A>CCA383246012KCNJ1c.321T>G (p.Asn107Lys)
c.378T>G (p.Asn126Lys)
c.372T>G (p.Asn124Lys)
11g.128839923A>GCA230628778KCNJ1c.321T>C (p.Asn107=)
c.378T>C (p.Asn126=)
c.372T>C (p.Asn124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839923A>TCA383246014KCNJ1c.321T>A (p.Asn107Lys)
c.378T>A (p.Asn126Lys)
c.372T>A (p.Asn124Lys)
11g.128839924T>ACA383246017KCNJ1c.320A>T (p.Asn107Ile)
c.377A>T (p.Asn126Ile)
c.371A>T (p.Asn124Ile)
11g.128839924T>CCA383246019KCNJ1c.320A>G (p.Asn107Ser)
c.377A>G (p.Asn126Ser)
c.371A>G (p.Asn124Ser)
11g.128839924T>GCA383246022KCNJ1c.320A>C (p.Asn107Thr)
c.377A>C (p.Asn126Thr)
c.371A>C (p.Asn124Thr)
11g.128839925T>ACA383246034KCNJ1c.319A>T (p.Asn107Tyr)
c.376A>T (p.Asn126Tyr)
c.370A>T (p.Asn124Tyr)
 dbSNP gnomAD v4
11g.128839925T>CCA383246031KCNJ1c.319A>G (p.Asn107Asp)
c.376A>G (p.Asn126Asp)
c.370A>G (p.Asn124Asp)
11g.128839925T>GCA383246027KCNJ1c.319A>C (p.Asn107His)
c.376A>C (p.Asn126His)
c.370A>C (p.Asn124His)
11g.128839925T=CA2008251301KCNJ1c.319A= (p.Asn107=)
c.376A= (p.Asn126=)
c.370A= (p.Asn124=)
11g.128839926A=CA2008251304KCNJ1c.318T= (p.Ile106=)
c.375T= (p.Ile125=)
c.369T= (p.Ile123=)
11g.128839926A>CCA383246038KCNJ1c.318T>G (p.Ile106Met)
c.375T>G (p.Ile125Met)
c.369T>G (p.Ile123Met)
 dbSNP gnomAD v3 gnomAD v4
11g.128839926A>GCA477703048KCNJ1c.318T>C (p.Ile106=)
c.375T>C (p.Ile125=)
c.369T>C (p.Ile123=)
 dbSNP gnomAD v4
11g.128839926A>TCA477703049KCNJ1c.318T>A (p.Ile106=)
c.375T>A (p.Ile125=)
c.369T>A (p.Ile123=)
11g.128839927A>CCA383246046KCNJ1c.317T>G (p.Ile106Ser)
c.374T>G (p.Ile125Ser)
c.368T>G (p.Ile123Ser)
11g.128839927A>GCA383246041KCNJ1c.317T>C (p.Ile106Thr)
c.374T>C (p.Ile125Thr)
c.368T>C (p.Ile123Thr)
11g.128839927A>TCA383246047KCNJ1c.317T>A (p.Ile106Asn)
c.374T>A (p.Ile125Asn)
c.368T>A (p.Ile123Asn)
11g.128839927_128839930delinsATATCA2008251307KCNJ1c.314_317delinsATAT (p.Asn105=)
c.371_374delinsATAT (p.Asn124=)
c.365_368delinsATAT (p.Asn122=)
11g.128839928T>ACA383246048KCNJ1c.316A>T (p.Ile106Phe)
c.373A>T (p.Ile125Phe)
c.367A>T (p.Ile123Phe)
11g.128839928T>CCA383246049KCNJ1c.316A>G (p.Ile106Val)
c.373A>G (p.Ile125Val)
c.367A>G (p.Ile123Val)
 gnomAD v4
11g.128839928T>GCA383246052KCNJ1c.316A>C (p.Ile106Leu)
c.373A>C (p.Ile125Leu)
c.367A>C (p.Ile123Leu)
11g.128839929_128839931delCA602585822KCNJ1c.314_316del (p.Asn105del)
c.371_373del (p.Asn124del)
c.365_367del (p.Asn122del)
 dbSNP gnomAD v2
11g.128839929A=CA2008251317KCNJ1c.315T= (p.Asn105=)
c.372T= (p.Asn124=)
c.366T= (p.Asn122=)
11g.128839929A>CCA383246056KCNJ1c.315T>G (p.Asn105Lys)
c.372T>G (p.Asn124Lys)
c.366T>G (p.Asn122Lys)
11g.128839929A>GCA230628785KCNJ1c.315T>C (p.Asn105=)
c.372T>C (p.Asn124=)
c.366T>C (p.Asn122=)
 ClinVar dbSNP
11g.128839929A>TCA120164KCNJ1c.315T>A (p.Asn105Lys)
c.372T>A (p.Asn124Lys)
c.366T>A (p.Asn122Lys)
 ClinVar dbSNP
11g.128839930T>ACA383246057KCNJ1c.314A>T (p.Asn105Ile)
c.371A>T (p.Asn124Ile)
c.365A>T (p.Asn122Ile)
11g.128839930T>CCA383246060KCNJ1c.314A>G (p.Asn105Ser)
c.371A>G (p.Asn124Ser)
c.365A>G (p.Asn122Ser)
 dbSNP
11g.128839930T>GCA383246062KCNJ1c.314A>C (p.Asn105Thr)
c.371A>C (p.Asn124Thr)
c.365A>C (p.Asn122Thr)
11g.128839930T=CA2008251321KCNJ1c.314A= (p.Asn105=)
c.371A= (p.Asn124=)
c.365A= (p.Asn122=)
11g.128839931T>ACA383246063KCNJ1c.313A>T (p.Asn105Tyr)
c.370A>T (p.Asn124Tyr)
c.364A>T (p.Asn122Tyr)
11g.128839931T>CCA383246064KCNJ1c.313A>G (p.Asn105Asp)
c.370A>G (p.Asn124Asp)
c.364A>G (p.Asn122Asp)
 dbSNP
11g.128839931T>GCA383246065KCNJ1c.313A>C (p.Asn105His)
c.370A>C (p.Asn124His)
c.364A>C (p.Asn122His)
11g.128839931T=CA2008251327KCNJ1c.313A= (p.Asn105=)
c.370A= (p.Asn124=)
c.364A= (p.Asn122=)
11g.128839932C>ACA383246071KCNJ1c.312G>T (p.Glu104Asp)
c.369G>T (p.Glu123Asp)
c.363G>T (p.Glu121Asp)
11g.128839932C>GCA383246068KCNJ1c.312G>C (p.Glu104Asp)
c.369G>C (p.Glu123Asp)
c.363G>C (p.Glu121Asp)
11g.128839932C>TCA477703052KCNJ1c.312G>A (p.Glu104=)
c.369G>A (p.Glu123=)
c.363G>A (p.Glu121=)
11g.128839933T>ACA383246074KCNJ1c.311A>T (p.Glu104Val)
c.368A>T (p.Glu123Val)
c.362A>T (p.Glu121Val)
11g.128839933T>CCA383246076KCNJ1c.311A>G (p.Glu104Gly)
c.368A>G (p.Glu123Gly)
c.362A>G (p.Glu121Gly)
11g.128839933T>GCA383246079KCNJ1c.311A>C (p.Glu104Ala)
c.368A>C (p.Glu123Ala)
c.362A>C (p.Glu121Ala)
11g.128839934C>ACA383246083KCNJ1c.310G>T (p.Glu104Ter)
c.367G>T (p.Glu123Ter)
c.361G>T (p.Glu121Ter)
11g.128839934C=CA2008251328KCNJ1c.310G= (p.Glu104=)
c.367G= (p.Glu123=)
c.361G= (p.Glu121=)
11g.128839934C>GCA383246087KCNJ1c.310G>C (p.Glu104Gln)
c.367G>C (p.Glu123Gln)
c.361G>C (p.Glu121Gln)
11g.128839934C>TCA383246092KCNJ1c.310G>A (p.Glu104Lys)
c.367G>A (p.Glu123Lys)
c.361G>A (p.Glu121Lys)
 dbSNP gnomAD v4
11g.128839935C>ACA477703054KCNJ1c.309G>T (p.Val103=)
c.366G>T (p.Val122=)
c.360G>T (p.Val120=)
11g.128839935C>GCA477703055KCNJ1c.309G>C (p.Val103=)
c.366G>C (p.Val122=)
c.360G>C (p.Val120=)
11g.128839935C>TCA477703056KCNJ1c.309G>A (p.Val103=)
c.366G>A (p.Val122=)
c.360G>A (p.Val120=)
11g.128839936A=CA2008251333KCNJ1c.308T= (p.Val103=)
c.365T= (p.Val122=)
c.359T= (p.Val120=)
11g.128839936A>CCA383246099KCNJ1c.308T>G (p.Val103Gly)
c.365T>G (p.Val122Gly)
c.359T>G (p.Val120Gly)
11g.128839936A>GCA6357535KCNJ1c.308T>C (p.Val103Ala)
c.365T>C (p.Val122Ala)
c.359T>C (p.Val120Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839936A>TCA383246103KCNJ1c.308T>A (p.Val103Glu)
c.365T>A (p.Val122Glu)
c.359T>A (p.Val120Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.128839937C>ACA383246110KCNJ1c.307G>T (p.Val103Leu)
c.364G>T (p.Val122Leu)
c.358G>T (p.Val120Leu)
11g.128839937C>GCA383246111KCNJ1c.307G>C (p.Val103Leu)
c.364G>C (p.Val122Leu)
c.358G>C (p.Val120Leu)
11g.128839937C>TCA383246114KCNJ1c.307G>A (p.Val103Met)
c.364G>A (p.Val122Met)
c.358G>A (p.Val120Met)
 gnomAD v4
11g.128839938A>CCA383246120KCNJ1c.306T>G (p.Cys102Trp)
c.363T>G (p.Cys121Trp)
c.357T>G (p.Cys119Trp)
11g.128839938A>GCA477703060KCNJ1c.306T>C (p.Cys102=)
c.363T>C (p.Cys121=)
c.357T>C (p.Cys119=)
11g.128839938A>TCA383246119KCNJ1c.306T>A (p.Cys102Ter)
c.363T>A (p.Cys121Ter)
c.357T>A (p.Cys119Ter)
11g.128839939C>ACA383246124KCNJ1c.305G>T (p.Cys102Phe)
c.362G>T (p.Cys121Phe)
c.356G>T (p.Cys119Phe)
11g.128839939C=CA2008251367KCNJ1c.305G= (p.Cys102=)
c.362G= (p.Cys121=)
c.356G= (p.Cys119=)
11g.128839939C>GCA383246127KCNJ1c.305G>C (p.Cys102Ser)
c.362G>C (p.Cys121Ser)
c.356G>C (p.Cys119Ser)
11g.128839939C>TCA383246128KCNJ1c.305G>A (p.Cys102Tyr)
c.362G>A (p.Cys121Tyr)
c.356G>A (p.Cys119Tyr)
 ClinVar dbSNP gnomAD v4
11g.128839940A=CA2008251375KCNJ1c.304T= (p.Cys102=)
c.361T= (p.Cys121=)
c.355T= (p.Cys119=)
11g.128839940A>CCA383246130KCNJ1c.304T>G (p.Cys102Gly)
c.361T>G (p.Cys121Gly)
c.355T>G (p.Cys119Gly)
11g.128839940A>GCA383246131KCNJ1c.304T>C (p.Cys102Arg)
c.361T>C (p.Cys121Arg)
c.355T>C (p.Cys119Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.128839940A>TCA383246132KCNJ1c.304T>A (p.Cys102Ser)
c.361T>A (p.Cys121Ser)
c.355T>A (p.Cys119Ser)

Number of alleles fetched