Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839549A=CA2008286685KCNJ1c.695T= (p.Phe232=)
c.752T= (p.Phe251=)
c.746T= (p.Phe249=)
11g.128839549A>CCA383244304KCNJ1c.695T>G (p.Phe232Cys)
c.752T>G (p.Phe251Cys)
c.746T>G (p.Phe249Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.128839549A>GCA383244306KCNJ1c.695T>C (p.Phe232Ser)
c.752T>C (p.Phe251Ser)
c.746T>C (p.Phe249Ser)
11g.128839549A>TCA383244308KCNJ1c.695T>A (p.Phe232Tyr)
c.752T>A (p.Phe251Tyr)
c.746T>A (p.Phe249Tyr)
11g.128839550A>CCA383244315KCNJ1c.694T>G (p.Phe232Val)
c.751T>G (p.Phe251Val)
c.745T>G (p.Phe249Val)
11g.128839550A>GCA383244314KCNJ1c.694T>C (p.Phe232Leu)
c.751T>C (p.Phe251Leu)
c.745T>C (p.Phe249Leu)
11g.128839550A>TCA383244312KCNJ1c.694T>A (p.Phe232Ile)
c.751T>A (p.Phe251Ile)
c.745T>A (p.Phe249Ile)
11g.128839551G>ACA477703139KCNJ1c.693C>T (p.Asn231=)
c.750C>T (p.Asn250=)
c.744C>T (p.Asn248=)
 gnomAD v4
11g.128839551G>CCA230628285KCNJ1c.693C>G (p.Asn231Lys)
c.750C>G (p.Asn250Lys)
c.744C>G (p.Asn248Lys)
 dbSNP
11g.128839551G=CA2008286687KCNJ1c.693C= (p.Asn231=)
c.750C= (p.Asn250=)
c.744C= (p.Asn248=)
11g.128839551G>TCA383244319KCNJ1c.693C>A (p.Asn231Lys)
c.750C>A (p.Asn250Lys)
c.744C>A (p.Asn248Lys)
11g.128839552T>ACA383244322KCNJ1c.692A>T (p.Asn231Ile)
c.749A>T (p.Asn250Ile)
c.743A>T (p.Asn248Ile)
11g.128839552T>CCA6357472KCNJ1c.692A>G (p.Asn231Ser)
c.749A>G (p.Asn250Ser)
c.743A>G (p.Asn248Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839552T>GCA383244325KCNJ1c.692A>C (p.Asn231Thr)
c.749A>C (p.Asn250Thr)
c.743A>C (p.Asn248Thr)
11g.128839552T=CA2008286695KCNJ1c.692A= (p.Asn231=)
c.749A= (p.Asn250=)
c.743A= (p.Asn248=)
11g.128839553T>ACA383244329KCNJ1c.691A>T (p.Asn231Tyr)
c.748A>T (p.Asn250Tyr)
c.742A>T (p.Asn248Tyr)
11g.128839553T>CCA6357473KCNJ1c.691A>G (p.Asn231Asp)
c.748A>G (p.Asn250Asp)
c.742A>G (p.Asn248Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839553T>GCA383244332KCNJ1c.691A>C (p.Asn231His)
c.748A>C (p.Asn250His)
c.742A>C (p.Asn248His)
11g.128839553T=CA2008286698KCNJ1c.691A= (p.Asn231=)
c.748A= (p.Asn250=)
c.742A= (p.Asn248=)
11g.128839554G>ACA477703143KCNJ1c.690C>T (p.Ile230=)
c.747C>T (p.Ile249=)
c.741C>T (p.Ile247=)
11g.128839554G>CCA383244336KCNJ1c.690C>G (p.Ile230Met)
c.747C>G (p.Ile249Met)
c.741C>G (p.Ile247Met)
11g.128839554G>TCA477703144KCNJ1c.690C>A (p.Ile230=)
c.747C>A (p.Ile249=)
c.741C>A (p.Ile247=)
11g.128839555A>CCA383244339KCNJ1c.689T>G (p.Ile230Ser)
c.746T>G (p.Ile249Ser)
c.740T>G (p.Ile247Ser)
11g.128839555A>GCA383244342KCNJ1c.689T>C (p.Ile230Thr)
c.746T>C (p.Ile249Thr)
c.740T>C (p.Ile247Thr)
11g.128839555A>TCA383244343KCNJ1c.689T>A (p.Ile230Asn)
c.746T>A (p.Ile249Asn)
c.740T>A (p.Ile247Asn)
11g.128839556T>ACA383244350KCNJ1c.688A>T (p.Ile230Phe)
c.745A>T (p.Ile249Phe)
c.739A>T (p.Ile247Phe)
11g.128839556T>CCA383244348KCNJ1c.688A>G (p.Ile230Val)
c.745A>G (p.Ile249Val)
c.739A>G (p.Ile247Val)
 gnomAD v4
11g.128839556T>GCA383244346KCNJ1c.688A>C (p.Ile230Leu)
c.745A>C (p.Ile249Leu)
c.739A>C (p.Ile247Leu)
11g.128839557A>CCA383244351KCNJ1c.687T>G (p.Asn229Lys)
c.744T>G (p.Asn248Lys)
c.738T>G (p.Asn246Lys)
11g.128839557A>GCA477703152KCNJ1c.687T>C (p.Asn229=)
c.744T>C (p.Asn248=)
c.738T>C (p.Asn246=)
11g.128839557A>TCA383244353KCNJ1c.687T>A (p.Asn229Lys)
c.744T>A (p.Asn248Lys)
c.738T>A (p.Asn246Lys)
11g.128839558T>ACA383244356KCNJ1c.686A>T (p.Asn229Ile)
c.743A>T (p.Asn248Ile)
c.737A>T (p.Asn246Ile)
11g.128839558T>CCA383244358KCNJ1c.686A>G (p.Asn229Ser)
c.743A>G (p.Asn248Ser)
c.737A>G (p.Asn246Ser)
11g.128839558T>GCA383244360KCNJ1c.686A>C (p.Asn229Thr)
c.743A>C (p.Asn248Thr)
c.737A>C (p.Asn246Thr)
11g.128839559T>ACA383244363KCNJ1c.685A>T (p.Asn229Tyr)
c.742A>T (p.Asn248Tyr)
c.736A>T (p.Asn246Tyr)
11g.128839559T>CCA383244365KCNJ1c.685A>G (p.Asn229Asp)
c.742A>G (p.Asn248Asp)
c.736A>G (p.Asn246Asp)
 gnomAD v4
11g.128839559T>GCA383244368KCNJ1c.685A>C (p.Asn229His)
c.742A>C (p.Asn248His)
c.736A>C (p.Asn246His)
11g.128839560delCA2616771383KCNJ1c.684del (p.Asn229IlefsTer5)
c.741del (p.Asn248IlefsTer5)
c.735del (p.Asn246IlefsTer5)
 gnomAD v4
11g.128839560G>ACA477703156KCNJ1c.684C>T (p.Ile228=)
c.741C>T (p.Ile247=)
c.735C>T (p.Ile245=)
11g.128839560G>CCA383244371KCNJ1c.684C>G (p.Ile228Met)
c.741C>G (p.Ile247Met)
c.735C>G (p.Ile245Met)
11g.128839560G>TCA477703157KCNJ1c.684C>A (p.Ile228=)
c.741C>A (p.Ile247=)
c.735C>A (p.Ile245=)
11g.128839561A=CA2008286700KCNJ1c.683T= (p.Ile228=)
c.740T= (p.Ile247=)
c.734T= (p.Ile245=)
11g.128839561A>CCA383244374KCNJ1c.683T>G (p.Ile228Ser)
c.740T>G (p.Ile247Ser)
c.734T>G (p.Ile245Ser)
11g.128839561A>GCA6357474KCNJ1c.683T>C (p.Ile228Thr)
c.740T>C (p.Ile247Thr)
c.734T>C (p.Ile245Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839561A>TCA383244378KCNJ1c.683T>A (p.Ile228Asn)
c.740T>A (p.Ile247Asn)
c.734T>A (p.Ile245Asn)
11g.128839562T>ACA383244383KCNJ1c.682A>T (p.Ile228Phe)
c.739A>T (p.Ile247Phe)
c.733A>T (p.Ile245Phe)
11g.128839562T>CCA230628303KCNJ1c.682A>G (p.Ile228Val)
c.739A>G (p.Ile247Val)
c.733A>G (p.Ile245Val)
 dbSNP gnomAD v3 gnomAD v4
11g.128839562T>GCA383244382KCNJ1c.682A>C (p.Ile228Leu)
c.739A>C (p.Ile247Leu)
c.733A>C (p.Ile245Leu)
11g.128839562T=CA2008286702KCNJ1c.682A= (p.Ile228=)
c.739A= (p.Ile247=)
c.733A= (p.Ile245=)
11g.128839563C>ACA383244386KCNJ1c.681G>T (p.Gln227His)
c.738G>T (p.Gln246His)
c.732G>T (p.Gln244His)
11g.128839563C>GCA383244387KCNJ1c.681G>C (p.Gln227His)
c.738G>C (p.Gln246His)
c.732G>C (p.Gln244His)
 gnomAD v4
11g.128839563C>TCA477703160KCNJ1c.681G>A (p.Gln227=)
c.738G>A (p.Gln246=)
c.732G>A (p.Gln244=)
11g.128839564T>ACA383244389KCNJ1c.680A>T (p.Gln227Leu)
c.737A>T (p.Gln246Leu)
c.731A>T (p.Gln244Leu)
11g.128839564T>CCA383244392KCNJ1c.680A>G (p.Gln227Arg)
c.737A>G (p.Gln246Arg)
c.731A>G (p.Gln244Arg)
11g.128839564T>GCA383244394KCNJ1c.680A>C (p.Gln227Pro)
c.737A>C (p.Gln246Pro)
c.731A>C (p.Gln244Pro)
11g.128839565G>ACA383244401KCNJ1c.679C>T (p.Gln227Ter)
c.736C>T (p.Gln246Ter)
c.730C>T (p.Gln244Ter)
 gnomAD v4
11g.128839565G>CCA383244397KCNJ1c.679C>G (p.Gln227Glu)
c.736C>G (p.Gln246Glu)
c.730C>G (p.Gln244Glu)
11g.128839565G>TCA383244399KCNJ1c.679C>A (p.Gln227Lys)
c.736C>A (p.Gln246Lys)
c.730C>A (p.Gln244Lys)
11g.128839566G>ACA477703164KCNJ1c.678C>T (p.Asp226=)
c.735C>T (p.Asp245=)
c.729C>T (p.Asp243=)
 gnomAD v4
11g.128839566G>CCA383244403KCNJ1c.678C>G (p.Asp226Glu)
c.735C>G (p.Asp245Glu)
c.729C>G (p.Asp243Glu)
11g.128839566G=CA2008286703KCNJ1c.678C= (p.Asp226=)
c.735C= (p.Asp245=)
c.729C= (p.Asp243=)
11g.128839566G>TCA6357475KCNJ1c.678C>A (p.Asp226Glu)
c.735C>A (p.Asp245Glu)
c.729C>A (p.Asp243Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839567T>ACA383244409KCNJ1c.677A>T (p.Asp226Val)
c.734A>T (p.Asp245Val)
c.728A>T (p.Asp243Val)
11g.128839567T>CCA383244411KCNJ1c.677A>G (p.Asp226Gly)
c.734A>G (p.Asp245Gly)
c.728A>G (p.Asp243Gly)
 dbSNP gnomAD v4
11g.128839567T>GCA383244413KCNJ1c.677A>C (p.Asp226Ala)
c.734A>C (p.Asp245Ala)
c.728A>C (p.Asp243Ala)
11g.128839567T=CA2008286705KCNJ1c.677A= (p.Asp226=)
c.734A= (p.Asp245=)
c.728A= (p.Asp243=)
11g.128839568C>ACA383244420KCNJ1c.676G>T (p.Asp226Tyr)
c.733G>T (p.Asp245Tyr)
c.727G>T (p.Asp243Tyr)
11g.128839568C>GCA383244418KCNJ1c.676G>C (p.Asp226His)
c.733G>C (p.Asp245His)
c.727G>C (p.Asp243His)
11g.128839568C>TCA383244416KCNJ1c.676G>A (p.Asp226Asn)
c.733G>A (p.Asp245Asn)
c.727G>A (p.Asp243Asn)
11g.128839569C>ACA383244423KCNJ1c.675G>T (p.Leu225Phe)
c.732G>T (p.Leu244Phe)
c.726G>T (p.Leu242Phe)
11g.128839569C=CA2008286708KCNJ1c.675G= (p.Leu225=)
c.732G= (p.Leu244=)
c.726G= (p.Leu242=)
11g.128839569C>GCA383244427KCNJ1c.675G>C (p.Leu225Phe)
c.732G>C (p.Leu244Phe)
c.726G>C (p.Leu242Phe)
11g.128839569C>TCA6357476KCNJ1c.675G>A (p.Leu225=)
c.732G>A (p.Leu244=)
c.726G>A (p.Leu242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839570A>CCA383244430KCNJ1c.674T>G (p.Leu225Trp)
c.731T>G (p.Leu244Trp)
c.725T>G (p.Leu242Trp)
11g.128839570A>GCA383244432KCNJ1c.674T>C (p.Leu225Ser)
c.731T>C (p.Leu244Ser)
c.725T>C (p.Leu242Ser)
 gnomAD v4
11g.128839570A>TCA383244435KCNJ1c.674T>A (p.Leu225Ter)
c.731T>A (p.Leu244Ter)
c.725T>A (p.Leu242Ter)
11g.128839571A>CCA383244437KCNJ1c.673T>G (p.Leu225Val)
c.730T>G (p.Leu244Val)
c.724T>G (p.Leu242Val)
11g.128839571A>GCA477703173KCNJ1c.673T>C (p.Leu225=)
c.730T>C (p.Leu244=)
c.724T>C (p.Leu242=)
11g.128839571A>TCA383244439KCNJ1c.673T>A (p.Leu225Met)
c.730T>A (p.Leu244Met)
c.724T>A (p.Leu242Met)
11g.128839572A>CCA383244442KCNJ1c.672T>G (p.Ile224Met)
c.729T>G (p.Ile243Met)
c.723T>G (p.Ile241Met)
11g.128839572A>GCA477703174KCNJ1c.672T>C (p.Ile224=)
c.729T>C (p.Ile243=)
c.723T>C (p.Ile241=)
11g.128839572A>TCA477703175KCNJ1c.672T>A (p.Ile224=)
c.729T>A (p.Ile243=)
c.723T>A (p.Ile241=)
11g.128839573A>CCA383244445KCNJ1c.671T>G (p.Ile224Ser)
c.728T>G (p.Ile243Ser)
c.722T>G (p.Ile241Ser)
11g.128839573A>GCA383244447KCNJ1c.671T>C (p.Ile224Thr)
c.728T>C (p.Ile243Thr)
c.722T>C (p.Ile241Thr)
11g.128839573A>TCA383244449KCNJ1c.671T>A (p.Ile224Asn)
c.728T>A (p.Ile243Asn)
c.722T>A (p.Ile241Asn)
11g.128839574T>ACA383244452KCNJ1c.670A>T (p.Ile224Phe)
c.727A>T (p.Ile243Phe)
c.721A>T (p.Ile241Phe)
11g.128839574T>CCA383244454KCNJ1c.670A>G (p.Ile224Val)
c.727A>G (p.Ile243Val)
c.721A>G (p.Ile241Val)
11g.128839574T>GCA383244456KCNJ1c.670A>C (p.Ile224Leu)
c.727A>C (p.Ile243Leu)
c.721A>C (p.Ile241Leu)
11g.128839575A>CCA383244458KCNJ1c.669T>G (p.Ile223Met)
c.726T>G (p.Ile242Met)
c.720T>G (p.Ile240Met)
 gnomAD v4
11g.128839575A>GCA477703181KCNJ1c.669T>C (p.Ile223=)
c.726T>C (p.Ile242=)
c.720T>C (p.Ile240=)
11g.128839575A>TCA477703180KCNJ1c.669T>A (p.Ile223=)
c.726T>A (p.Ile242=)
c.720T>A (p.Ile240=)
11g.128839576A=CA2008286710KCNJ1c.668T= (p.Ile223=)
c.725T= (p.Ile242=)
c.719T= (p.Ile240=)
11g.128839576A>CCA383244461KCNJ1c.668T>G (p.Ile223Ser)
c.725T>G (p.Ile242Ser)
c.719T>G (p.Ile240Ser)
11g.128839576A>GCA383244464KCNJ1c.668T>C (p.Ile223Thr)
c.725T>C (p.Ile242Thr)
c.719T>C (p.Ile240Thr)
 dbSNP gnomAD v4
11g.128839576A>TCA383244466KCNJ1c.668T>A (p.Ile223Asn)
c.725T>A (p.Ile242Asn)
c.719T>A (p.Ile240Asn)
11g.128839577T>ACA383244470KCNJ1c.667A>T (p.Ile223Phe)
c.724A>T (p.Ile242Phe)
c.718A>T (p.Ile240Phe)
11g.128839577T>CCA6357477KCNJ1c.667A>G (p.Ile223Val)
c.724A>G (p.Ile242Val)
c.718A>G (p.Ile240Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839577T>GCA383244474KCNJ1c.667A>C (p.Ile223Leu)
c.724A>C (p.Ile242Leu)
c.718A>C (p.Ile240Leu)
11g.128839577T=CA2008286715KCNJ1c.667A= (p.Ile223=)
c.724A= (p.Ile242=)
c.718A= (p.Ile240=)
11g.128839578G>ACA477703184KCNJ1c.666C>T (p.Thr222=)
c.723C>T (p.Thr241=)
c.717C>T (p.Thr239=)
11g.128839578G>CCA477703185KCNJ1c.666C>G (p.Thr222=)
c.723C>G (p.Thr241=)
c.717C>G (p.Thr239=)
11g.128839578G>TCA477703186KCNJ1c.666C>A (p.Thr222=)
c.723C>A (p.Thr241=)
c.717C>A (p.Thr239=)
11g.128839579G>ACA383244477KCNJ1c.665C>T (p.Thr222Ile)
c.722C>T (p.Thr241Ile)
c.716C>T (p.Thr239Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839579G>CCA383244479KCNJ1c.665C>G (p.Thr222Ser)
c.722C>G (p.Thr241Ser)
c.716C>G (p.Thr239Ser)
11g.128839579G=CA2008286717KCNJ1c.665C= (p.Thr222=)
c.722C= (p.Thr241=)
c.716C= (p.Thr239=)
11g.128839579G>TCA383244482KCNJ1c.665C>A (p.Thr222Asn)
c.722C>A (p.Thr241Asn)
c.716C>A (p.Thr239Asn)
 gnomAD v4
11g.128839580T>ACA383244485KCNJ1c.664A>T (p.Thr222Ser)
c.721A>T (p.Thr241Ser)
c.715A>T (p.Thr239Ser)
11g.128839580T>CCA383244487KCNJ1c.664A>G (p.Thr222Ala)
c.721A>G (p.Thr241Ala)
c.715A>G (p.Thr239Ala)
11g.128839580T>GCA383244489KCNJ1c.664A>C (p.Thr222Pro)
c.721A>C (p.Thr241Pro)
c.715A>C (p.Thr239Pro)
11g.128839581C>ACA383244492KCNJ1c.663G>T (p.Glu221Asp)
c.720G>T (p.Glu240Asp)
c.714G>T (p.Glu238Asp)
11g.128839581C=CA2008286720KCNJ1c.663G= (p.Glu221=)
c.720G= (p.Glu240=)
c.714G= (p.Glu238=)
11g.128839581C>GCA6357478KCNJ1c.663G>C (p.Glu221Asp)
c.720G>C (p.Glu240Asp)
c.714G>C (p.Glu238Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839581C>TCA477703189KCNJ1c.663G>A (p.Glu221=)
c.720G>A (p.Glu240=)
c.714G>A (p.Glu238=)
11g.128839582T>ACA383244496KCNJ1c.662A>T (p.Glu221Val)
c.719A>T (p.Glu240Val)
c.713A>T (p.Glu238Val)
11g.128839582T>CCA383244500KCNJ1c.662A>G (p.Glu221Gly)
c.719A>G (p.Glu240Gly)
c.713A>G (p.Glu238Gly)
11g.128839582T>GCA383244498KCNJ1c.662A>C (p.Glu221Ala)
c.719A>C (p.Glu240Ala)
c.713A>C (p.Glu238Ala)
11g.128839583C>ACA383244503KCNJ1c.661G>T (p.Glu221Ter)
c.718G>T (p.Glu240Ter)
c.712G>T (p.Glu238Ter)
11g.128839583C=CA2008286723KCNJ1c.661G= (p.Glu221=)
c.718G= (p.Glu240=)
c.712G= (p.Glu238=)
11g.128839583C>GCA230628313KCNJ1c.661G>C (p.Glu221Gln)
c.718G>C (p.Glu240Gln)
c.712G>C (p.Glu238Gln)
 dbSNP gnomAD v4
11g.128839583C>TCA383244506KCNJ1c.661G>A (p.Glu221Lys)
c.718G>A (p.Glu240Lys)
c.712G>A (p.Glu238Lys)
 gnomAD v4 COSMIC
11g.128839584T>ACA477703192KCNJ1c.660A>T (p.Gly220=)
c.717A>T (p.Gly239=)
c.711A>T (p.Gly237=)
11g.128839584T>CCA477703193KCNJ1c.660A>G (p.Gly220=)
c.717A>G (p.Gly239=)
c.711A>G (p.Gly237=)
 dbSNP gnomAD v2 gnomAD v4
11g.128839584T>GCA477703195KCNJ1c.660A>C (p.Gly220=)
c.717A>C (p.Gly239=)
c.711A>C (p.Gly237=)
11g.128839584T=CA2008286728KCNJ1c.660A= (p.Gly220=)
c.717A= (p.Gly239=)
c.711A= (p.Gly237=)
11g.128839584_128839585delinsTCCA2008286726KCNJ1c.659_660delinsGA (p.Gly220=)
c.716_717delinsGA (p.Gly239=)
c.710_711delinsGA (p.Gly237=)
11g.128839585C>ACA383244510KCNJ1c.659G>T (p.Gly220Val)
c.716G>T (p.Gly239Val)
c.710G>T (p.Gly237Val)
11g.128839585C>GCA383244512KCNJ1c.659G>C (p.Gly220Ala)
c.716G>C (p.Gly239Ala)
c.710G>C (p.Gly237Ala)
11g.128839585C>TCA383244515KCNJ1c.659G>A (p.Gly220Glu)
c.716G>A (p.Gly239Glu)
c.710G>A (p.Gly237Glu)
 COSMIC
11g.128839586delCA6357479KCNJ1c.659del (p.Gly220GlufsTer14)
c.716del (p.Gly239GlufsTer14)
c.710del (p.Gly237GlufsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839586C>ACA383244518KCNJ1c.658G>T (p.Gly220Ter)
c.715G>T (p.Gly239Ter)
c.709G>T (p.Gly237Ter)
11g.128839586C>GCA383244520KCNJ1c.658G>C (p.Gly220Arg)
c.715G>C (p.Gly239Arg)
c.709G>C (p.Gly237Arg)
11g.128839586C>TCA383244522KCNJ1c.658G>A (p.Gly220Arg)
c.715G>A (p.Gly239Arg)
c.709G>A (p.Gly237Arg)
11g.128839587T>ACA383244525KCNJ1c.657A>T (p.Glu219Asp)
c.714A>T (p.Glu238Asp)
c.708A>T (p.Glu236Asp)
11g.128839587T>CCA477703199KCNJ1c.657A>G (p.Glu219=)
c.714A>G (p.Glu238=)
c.708A>G (p.Glu236=)
11g.128839587T>GCA383244527KCNJ1c.657A>C (p.Glu219Asp)
c.714A>C (p.Glu238Asp)
c.708A>C (p.Glu236Asp)
11g.128839588T>ACA383244535KCNJ1c.656A>T (p.Glu219Val)
c.713A>T (p.Glu238Val)
c.707A>T (p.Glu236Val)
11g.128839588T>CCA383244533KCNJ1c.656A>G (p.Glu219Gly)
c.713A>G (p.Glu238Gly)
c.707A>G (p.Glu236Gly)
11g.128839588T>GCA383244530KCNJ1c.656A>C (p.Glu219Ala)
c.713A>C (p.Glu238Ala)
c.707A>C (p.Glu236Ala)
11g.128839589C>ACA383244537KCNJ1c.655G>T (p.Glu219Ter)
c.712G>T (p.Glu238Ter)
c.706G>T (p.Glu236Ter)
11g.128839589C>GCA383244539KCNJ1c.655G>C (p.Glu219Gln)
c.712G>C (p.Glu238Gln)
c.706G>C (p.Glu236Gln)
11g.128839589C>TCA383244541KCNJ1c.655G>A (p.Glu219Lys)
c.712G>A (p.Glu238Lys)
c.706G>A (p.Glu236Lys)
11g.128839590A>CCA477703203KCNJ1c.654T>G (p.Pro218=)
c.711T>G (p.Pro237=)
c.705T>G (p.Pro235=)
11g.128839590A>GCA477703204KCNJ1c.654T>C (p.Pro218=)
c.711T>C (p.Pro237=)
c.705T>C (p.Pro235=)
 gnomAD v4
11g.128839590A>TCA477703205KCNJ1c.654T>A (p.Pro218=)
c.711T>A (p.Pro237=)
c.705T>A (p.Pro235=)
11g.128839591G>ACA383244544KCNJ1c.653C>T (p.Pro218Leu)
c.710C>T (p.Pro237Leu)
c.704C>T (p.Pro235Leu)
11g.128839591G>CCA383244545KCNJ1c.653C>G (p.Pro218Arg)
c.710C>G (p.Pro237Arg)
c.704C>G (p.Pro235Arg)
11g.128839591G>TCA383244547KCNJ1c.653C>A (p.Pro218His)
c.710C>A (p.Pro237His)
c.704C>A (p.Pro235His)
11g.128839592G>ACA383244550KCNJ1c.652C>T (p.Pro218Ser)
c.709C>T (p.Pro237Ser)
c.703C>T (p.Pro235Ser)
11g.128839592G>CCA383244552KCNJ1c.652C>G (p.Pro218Ala)
c.709C>G (p.Pro237Ala)
c.703C>G (p.Pro235Ala)
11g.128839592G>TCA383244554KCNJ1c.652C>A (p.Pro218Thr)
c.709C>A (p.Pro237Thr)
c.703C>A (p.Pro235Thr)
 gnomAD v4
11g.128839593A>CCA477703212KCNJ1c.651T>G (p.Thr217=)
c.708T>G (p.Thr236=)
c.702T>G (p.Thr234=)
11g.128839593A>GCA477703213KCNJ1c.651T>C (p.Thr217=)
c.708T>C (p.Thr236=)
c.702T>C (p.Thr234=)
 gnomAD v4
11g.128839593A>TCA477703214KCNJ1c.651T>A (p.Thr217=)
c.708T>A (p.Thr236=)
c.702T>A (p.Thr234=)
11g.128839594G>ACA383244556KCNJ1c.650C>T (p.Thr217Ile)
c.707C>T (p.Thr236Ile)
c.701C>T (p.Thr234Ile)
11g.128839594G>CCA383244561KCNJ1c.650C>G (p.Thr217Ser)
c.707C>G (p.Thr236Ser)
c.701C>G (p.Thr234Ser)
11g.128839594G>TCA383244562KCNJ1c.650C>A (p.Thr217Asn)
c.707C>A (p.Thr236Asn)
c.701C>A (p.Thr234Asn)
11g.128839595T>ACA383244568KCNJ1c.649A>T (p.Thr217Ser)
c.706A>T (p.Thr236Ser)
c.700A>T (p.Thr234Ser)
 dbSNP
11g.128839595T>CCA383244564KCNJ1c.649A>G (p.Thr217Ala)
c.706A>G (p.Thr236Ala)
c.700A>G (p.Thr234Ala)
 dbSNP gnomAD v2
11g.128839595T>GCA383244566KCNJ1c.649A>C (p.Thr217Pro)
c.706A>C (p.Thr236Pro)
c.700A>C (p.Thr234Pro)
11g.128839595T=CA2008286733KCNJ1c.649A= (p.Thr217=)
c.706A= (p.Thr236=)
c.700A= (p.Thr234=)
11g.128839596G>ACA477703218KCNJ1c.648C>T (p.Val216=)
c.705C>T (p.Val235=)
c.699C>T (p.Val233=)
 gnomAD v4
11g.128839596G>CCA477703217KCNJ1c.648C>G (p.Val216=)
c.705C>G (p.Val235=)
c.699C>G (p.Val233=)
11g.128839596G>TCA477703216KCNJ1c.648C>A (p.Val216=)
c.705C>A (p.Val235=)
c.699C>A (p.Val233=)
11g.128839597A=CA2008286735KCNJ1c.647T= (p.Val216=)
c.704T= (p.Val235=)
c.698T= (p.Val233=)
11g.128839597A>CCA383244570KCNJ1c.647T>G (p.Val216Gly)
c.704T>G (p.Val235Gly)
c.698T>G (p.Val233Gly)
11g.128839597A>GCA6357480KCNJ1c.647T>C (p.Val216Ala)
c.704T>C (p.Val235Ala)
c.698T>C (p.Val233Ala)
 dbSNP ExAC gnomAD v2
11g.128839597A>TCA383244573KCNJ1c.647T>A (p.Val216Asp)
c.704T>A (p.Val235Asp)
c.698T>A (p.Val233Asp)
11g.128839598C>ACA383244578KCNJ1c.646G>T (p.Val216Phe)
c.703G>T (p.Val235Phe)
c.697G>T (p.Val233Phe)
11g.128839598C>GCA383244582KCNJ1c.646G>C (p.Val216Leu)
c.703G>C (p.Val235Leu)
c.697G>C (p.Val233Leu)
11g.128839598C>TCA383244580KCNJ1c.646G>A (p.Val216Ile)
c.703G>A (p.Val235Ile)
c.697G>A (p.Val233Ile)
11g.128839598_128839600delinsCTGCA2008286740KCNJ1c.644_646delinsCAG (p.Thr215=)
c.701_703delinsCAG (p.Thr234=)
c.695_697delinsCAG (p.Thr232=)
11g.128839599T>ACA477703221KCNJ1c.645A>T (p.Thr215=)
c.702A>T (p.Thr234=)
c.696A>T (p.Thr232=)
11g.128839599T>CCA477703222KCNJ1c.645A>G (p.Thr215=)
c.702A>G (p.Thr234=)
c.696A>G (p.Thr232=)
11g.128839599T>GCA477703223KCNJ1c.645A>C (p.Thr215=)
c.702A>C (p.Thr234=)
c.696A>C (p.Thr232=)
11g.128839601_128839602delCA477703224KCNJ1c.644_645del (p.Thr215SerfsTer4)
c.701_702del (p.Thr234SerfsTer4)
c.695_696del (p.Thr232SerfsTer4)
 dbSNP gnomAD v3 gnomAD v4
11g.128839600G>ACA230628331KCNJ1c.644C>T (p.Thr215Ile)
c.701C>T (p.Thr234Ile)
c.695C>T (p.Thr232Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839600G>CCA383244584KCNJ1c.644C>G (p.Thr215Arg)
c.701C>G (p.Thr234Arg)
c.695C>G (p.Thr232Arg)
11g.128839600G=CA2008250517KCNJ1c.644C= (p.Thr215=)
c.701C= (p.Thr234=)
c.695C= (p.Thr232=)
11g.128839600G>TCA383244585KCNJ1c.644C>A (p.Thr215Lys)
c.701C>A (p.Thr234Lys)
c.695C>A (p.Thr232Lys)
11g.128839601T>ACA383244586KCNJ1c.643A>T (p.Thr215Ser)
c.700A>T (p.Thr234Ser)
c.694A>T (p.Thr232Ser)
11g.128839601T>CCA383244587KCNJ1c.643A>G (p.Thr215Ala)
c.700A>G (p.Thr234Ala)
c.694A>G (p.Thr232Ala)
 gnomAD v4 COSMIC
11g.128839601T>GCA383244588KCNJ1c.643A>C (p.Thr215Pro)
c.700A>C (p.Thr234Pro)
c.694A>C (p.Thr232Pro)
11g.128839602G>ACA6357481KCNJ1c.642C>T (p.Thr214=)
c.699C>T (p.Thr233=)
c.693C>T (p.Thr231=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839602G>CCA477703228KCNJ1c.642C>G (p.Thr214=)
c.699C>G (p.Thr233=)
c.693C>G (p.Thr231=)
11g.128839602G=CA2008250543KCNJ1c.642C= (p.Thr214=)
c.699C= (p.Thr233=)
c.693C= (p.Thr231=)
11g.128839602G>TCA477703229KCNJ1c.642C>A (p.Thr214=)
c.699C>A (p.Thr233=)
c.693C>A (p.Thr231=)
 gnomAD v4
11g.128839603G>ACA383244589KCNJ1c.641C>T (p.Thr214Ile)
c.698C>T (p.Thr233Ile)
c.692C>T (p.Thr231Ile)
 dbSNP
11g.128839603G>CCA383244590KCNJ1c.641C>G (p.Thr214Ser)
c.698C>G (p.Thr233Ser)
c.692C>G (p.Thr231Ser)
11g.128839603G=CA2008250552KCNJ1c.641C= (p.Thr214=)
c.698C= (p.Thr233=)
c.692C= (p.Thr231=)
11g.128839603G>TCA383244591KCNJ1c.641C>A (p.Thr214Asn)
c.698C>A (p.Thr233Asn)
c.692C>A (p.Thr231Asn)
11g.128839604T>ACA383244592KCNJ1c.640A>T (p.Thr214Ser)
c.697A>T (p.Thr233Ser)
c.691A>T (p.Thr231Ser)
 gnomAD v4
11g.128839604T>CCA383244593KCNJ1c.640A>G (p.Thr214Ala)
c.697A>G (p.Thr233Ala)
c.691A>G (p.Thr231Ala)
 dbSNP
11g.128839604T>GCA383244594KCNJ1c.640A>C (p.Thr214Pro)
c.697A>C (p.Thr233Pro)
c.691A>C (p.Thr231Pro)
 dbSNP gnomAD v4
11g.128839604T=CA2008250559KCNJ1c.640A= (p.Thr214=)
c.697A= (p.Thr233=)
c.691A= (p.Thr231=)
11g.128839605C>ACA383244595KCNJ1c.639G>T (p.Lys213Asn)
c.696G>T (p.Lys232Asn)
c.690G>T (p.Lys230Asn)
11g.128839605C>GCA383244596KCNJ1c.639G>C (p.Lys213Asn)
c.696G>C (p.Lys232Asn)
c.690G>C (p.Lys230Asn)
11g.128839605C>TCA477703230KCNJ1c.639G>A (p.Lys213=)
c.696G>A (p.Lys232=)
c.690G>A (p.Lys230=)
11g.128839606T>ACA383244597KCNJ1c.638A>T (p.Lys213Met)
c.695A>T (p.Lys232Met)
c.689A>T (p.Lys230Met)
11g.128839606T>CCA383244598KCNJ1c.638A>G (p.Lys213Arg)
c.695A>G (p.Lys232Arg)
c.689A>G (p.Lys230Arg)
11g.128839606T>GCA383244599KCNJ1c.638A>C (p.Lys213Thr)
c.695A>C (p.Lys232Thr)
c.689A>C (p.Lys230Thr)
11g.128839607T>ACA383244600KCNJ1c.637A>T (p.Lys213Ter)
c.694A>T (p.Lys232Ter)
c.688A>T (p.Lys230Ter)
11g.128839607T>CCA383244601KCNJ1c.637A>G (p.Lys213Glu)
c.694A>G (p.Lys232Glu)
c.688A>G (p.Lys230Glu)
11g.128839607T>GCA383244602KCNJ1c.637A>C (p.Lys213Gln)
c.694A>C (p.Lys232Gln)
c.688A>C (p.Lys230Gln)
11g.128839608C>ACA477703231KCNJ1c.636G>T (p.Leu212=)
c.693G>T (p.Leu231=)
c.687G>T (p.Leu229=)
11g.128839608C>GCA477703233KCNJ1c.636G>C (p.Leu212=)
c.693G>C (p.Leu231=)
c.687G>C (p.Leu229=)
11g.128839608C>TCA477703235KCNJ1c.636G>A (p.Leu212=)
c.693G>A (p.Leu231=)
c.687G>A (p.Leu229=)
11g.128839609A=CA2008250570KCNJ1c.635T= (p.Leu212=)
c.692T= (p.Leu231=)
c.686T= (p.Leu229=)
11g.128839609A>CCA383244603KCNJ1c.635T>G (p.Leu212Arg)
c.692T>G (p.Leu231Arg)
c.686T>G (p.Leu229Arg)
11g.128839609A>GCA383244604KCNJ1c.635T>C (p.Leu212Pro)
c.692T>C (p.Leu231Pro)
c.686T>C (p.Leu229Pro)
11g.128839609A>TCA383244605KCNJ1c.635T>A (p.Leu212Gln)
c.692T>A (p.Leu231Gln)
c.686T>A (p.Leu229Gln)
 dbSNP gnomAD v3 gnomAD v4
11g.128839610G>ACA477703236KCNJ1c.634C>T (p.Leu212=)
c.691C>T (p.Leu231=)
c.685C>T (p.Leu229=)
11g.128839610G>CCA383244606KCNJ1c.634C>G (p.Leu212Val)
c.691C>G (p.Leu231Val)
c.685C>G (p.Leu229Val)
11g.128839610G>TCA383244607KCNJ1c.634C>A (p.Leu212Met)
c.691C>A (p.Leu231Met)
c.685C>A (p.Leu229Met)
11g.128839611A>CCA477703237KCNJ1c.633T>G (p.Leu211=)
c.690T>G (p.Leu230=)
c.684T>G (p.Leu228=)
11g.128839611A>GCA477703238KCNJ1c.633T>C (p.Leu211=)
c.690T>C (p.Leu230=)
c.684T>C (p.Leu228=)
11g.128839611A>TCA477703239KCNJ1c.633T>A (p.Leu211=)
c.690T>A (p.Leu230=)
c.684T>A (p.Leu228=)
11g.128839612A=CA2008250575KCNJ1c.632T= (p.Leu211=)
c.689T= (p.Leu230=)
c.683T= (p.Leu228=)
11g.128839612A>CCA383244610KCNJ1c.632T>G (p.Leu211Arg)
c.689T>G (p.Leu230Arg)
c.683T>G (p.Leu228Arg)
11g.128839612A>GCA383244609KCNJ1c.632T>C (p.Leu211Pro)
c.689T>C (p.Leu230Pro)
c.683T>C (p.Leu228Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.128839612A>TCA383244608KCNJ1c.632T>A (p.Leu211His)
c.689T>A (p.Leu230His)
c.683T>A (p.Leu228His)
11g.128839613G>ACA6357482KCNJ1c.631C>T (p.Leu211Phe)
c.688C>T (p.Leu230Phe)
c.682C>T (p.Leu228Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839613G>CCA383244611KCNJ1c.631C>G (p.Leu211Val)
c.688C>G (p.Leu230Val)
c.682C>G (p.Leu228Val)
11g.128839613G=CA2008250580KCNJ1c.631C= (p.Leu211=)
c.688C= (p.Leu230=)
c.682C= (p.Leu228=)
11g.128839613G>TCA383244612KCNJ1c.631C>A (p.Leu211Ile)
c.688C>A (p.Leu230Ile)
c.682C>A (p.Leu228Ile)
11g.128839614C>ACA383244613KCNJ1c.630G>T (p.Lys210Asn)
c.687G>T (p.Lys229Asn)
c.681G>T (p.Lys227Asn)
11g.128839614C>GCA383244614KCNJ1c.630G>C (p.Lys210Asn)
c.687G>C (p.Lys229Asn)
c.681G>C (p.Lys227Asn)
11g.128839614C>TCA477703240KCNJ1c.630G>A (p.Lys210=)
c.687G>A (p.Lys229=)
c.681G>A (p.Lys227=)
 gnomAD v4
11g.128839615T>ACA383244615KCNJ1c.629A>T (p.Lys210Met)
c.686A>T (p.Lys229Met)
c.680A>T (p.Lys227Met)
11g.128839615T>CCA383244616KCNJ1c.629A>G (p.Lys210Arg)
c.686A>G (p.Lys229Arg)
c.680A>G (p.Lys227Arg)
11g.128839615T>GCA383244617KCNJ1c.629A>C (p.Lys210Thr)
c.686A>C (p.Lys229Thr)
c.680A>C (p.Lys227Thr)
11g.128839616T>ACA383244618KCNJ1c.628A>T (p.Lys210Ter)
c.685A>T (p.Lys229Ter)
c.679A>T (p.Lys227Ter)
11g.128839616T>CCA383244619KCNJ1c.628A>G (p.Lys210Glu)
c.685A>G (p.Lys229Glu)
c.679A>G (p.Lys227Glu)
11g.128839616T>GCA383244620KCNJ1c.628A>C (p.Lys210Gln)
c.685A>C (p.Lys229Gln)
c.679A>C (p.Lys227Gln)
 COSMIC
11g.128839617T>ACA477703244KCNJ1c.627A>T (p.Gly209=)
c.684A>T (p.Gly228=)
c.678A>T (p.Gly226=)
11g.128839617T>CCA477703243KCNJ1c.627A>G (p.Gly209=)
c.684A>G (p.Gly228=)
c.678A>G (p.Gly226=)
11g.128839617T>GCA477703242KCNJ1c.627A>C (p.Gly209=)
c.684A>C (p.Gly228=)
c.678A>C (p.Gly226=)
11g.128839618C>ACA6357483KCNJ1c.626G>T (p.Gly209Val)
c.683G>T (p.Gly228Val)
c.677G>T (p.Gly226Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839618C=CA2008250586KCNJ1c.626G= (p.Gly209=)
c.683G= (p.Gly228=)
c.677G= (p.Gly226=)
11g.128839618C>GCA383244621KCNJ1c.626G>C (p.Gly209Ala)
c.683G>C (p.Gly228Ala)
c.677G>C (p.Gly226Ala)
11g.128839618C>TCA230628371KCNJ1c.626G>A (p.Gly209Glu)
c.683G>A (p.Gly228Glu)
c.677G>A (p.Gly226Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839619C>ACA383244623KCNJ1c.625G>T (p.Gly209Ter)
c.682G>T (p.Gly228Ter)
c.676G>T (p.Gly226Ter)
11g.128839619C=CA2008250592KCNJ1c.625G= (p.Gly209=)
c.682G= (p.Gly228=)
c.676G= (p.Gly226=)
11g.128839619C>GCA383244622KCNJ1c.625G>C (p.Gly209Arg)
c.682G>C (p.Gly228Arg)
c.676G>C (p.Gly226Arg)
11g.128839619C>TCA230628392KCNJ1c.625G>A (p.Gly209Arg)
c.682G>A (p.Gly228Arg)
c.676G>A (p.Gly226Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.128839620A=CA2008250595KCNJ1c.624T= (p.Tyr208=)
c.681T= (p.Tyr227=)
c.675T= (p.Tyr225=)
11g.128839620A>CCA383244624KCNJ1c.624T>G (p.Tyr208Ter)
c.681T>G (p.Tyr227Ter)
c.675T>G (p.Tyr225Ter)
11g.128839620A>GCA6357484KCNJ1c.624T>C (p.Tyr208=)
c.681T>C (p.Tyr227=)
c.675T>C (p.Tyr225=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839620A>TCA383244625KCNJ1c.624T>A (p.Tyr208Ter)
c.681T>A (p.Tyr227Ter)
c.675T>A (p.Tyr225Ter)
11g.128839621T>ACA383244626KCNJ1c.623A>T (p.Tyr208Phe)
c.680A>T (p.Tyr227Phe)
c.674A>T (p.Tyr225Phe)
11g.128839621T>CCA383244627KCNJ1c.623A>G (p.Tyr208Cys)
c.680A>G (p.Tyr227Cys)
c.674A>G (p.Tyr225Cys)
 ClinVar dbSNP
11g.128839621T>GCA383244628KCNJ1c.623A>C (p.Tyr208Ser)
c.680A>C (p.Tyr227Ser)
c.674A>C (p.Tyr225Ser)
11g.128839621T=CA2008250602KCNJ1c.623A= (p.Tyr208=)
c.680A= (p.Tyr227=)
c.674A= (p.Tyr225=)
11g.128839622A>CCA383244629KCNJ1c.622T>G (p.Tyr208Asp)
c.679T>G (p.Tyr227Asp)
c.673T>G (p.Tyr225Asp)
11g.128839622A>GCA383244630KCNJ1c.622T>C (p.Tyr208His)
c.679T>C (p.Tyr227His)
c.673T>C (p.Tyr225His)
11g.128839622A>TCA383244631KCNJ1c.622T>A (p.Tyr208Asn)
c.679T>A (p.Tyr227Asn)
c.673T>A (p.Tyr225Asn)
11g.128839623A=CA2008250611KCNJ1c.621T= (p.Ile207=)
c.678T= (p.Ile226=)
c.672T= (p.Ile224=)
11g.128839623A>CCA6357485KCNJ1c.621T>G (p.Ile207Met)
c.678T>G (p.Ile226Met)
c.672T>G (p.Ile224Met)
 dbSNP ExAC gnomAD v2
11g.128839623A>GCA477703246KCNJ1c.621T>C (p.Ile207=)
c.678T>C (p.Ile226=)
c.672T>C (p.Ile224=)
11g.128839623A>TCA477703245KCNJ1c.621T>A (p.Ile207=)
c.678T>A (p.Ile226=)
c.672T>A (p.Ile224=)
11g.128839624A>CCA383244632KCNJ1c.620T>G (p.Ile207Ser)
c.677T>G (p.Ile226Ser)
c.671T>G (p.Ile224Ser)
11g.128839624A>GCA383244633KCNJ1c.620T>C (p.Ile207Thr)
c.677T>C (p.Ile226Thr)
c.671T>C (p.Ile224Thr)
11g.128839624A>TCA383244634KCNJ1c.620T>A (p.Ile207Asn)
c.677T>A (p.Ile226Asn)
c.671T>A (p.Ile224Asn)
11g.128839625T>ACA383244636KCNJ1c.619A>T (p.Ile207Phe)
c.676A>T (p.Ile226Phe)
c.670A>T (p.Ile224Phe)
11g.128839625T>CCA383244637KCNJ1c.619A>G (p.Ile207Val)
c.676A>G (p.Ile226Val)
c.670A>G (p.Ile224Val)
11g.128839625T>GCA383244635KCNJ1c.619A>C (p.Ile207Leu)
c.676A>C (p.Ile226Leu)
c.670A>C (p.Ile224Leu)
11g.128839626G>ACA6357486KCNJ1c.618C>T (p.His206=)
c.675C>T (p.His225=)
c.669C>T (p.His223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839626G>CCA383244639KCNJ1c.618C>G (p.His206Gln)
c.675C>G (p.His225Gln)
c.669C>G (p.His223Gln)
11g.128839626G=CA2008250621KCNJ1c.618C= (p.His206=)
c.675C= (p.His225=)
c.669C= (p.His223=)
11g.128839626G>TCA383244638KCNJ1c.618C>A (p.His206Gln)
c.675C>A (p.His225Gln)
c.669C>A (p.His223Gln)
11g.128839627T>ACA383244640KCNJ1c.617A>T (p.His206Leu)
c.674A>T (p.His225Leu)
c.668A>T (p.His223Leu)
11g.128839627T>CCA383244641KCNJ1c.617A>G (p.His206Arg)
c.674A>G (p.His225Arg)
c.668A>G (p.His223Arg)
11g.128839627T>GCA383244642KCNJ1c.617A>C (p.His206Pro)
c.674A>C (p.His225Pro)
c.668A>C (p.His223Pro)
11g.128839628G>ACA383244643KCNJ1c.616C>T (p.His206Tyr)
c.673C>T (p.His225Tyr)
c.667C>T (p.His223Tyr)
11g.128839628G>CCA383244644KCNJ1c.616C>G (p.His206Asp)
c.673C>G (p.His225Asp)
c.667C>G (p.His223Asp)
11g.128839628G>TCA383244645KCNJ1c.616C>A (p.His206Asn)
c.673C>A (p.His225Asn)
c.667C>A (p.His223Asn)
11g.128839629A=CA2008250628KCNJ1c.615T= (p.Ser205=)
c.672T= (p.Ser224=)
c.666T= (p.Ser222=)
11g.128839629A>CCA383244646KCNJ1c.615T>G (p.Ser205Arg)
c.672T>G (p.Ser224Arg)
c.666T>G (p.Ser222Arg)
 dbSNP
11g.128839629A>GCA477703247KCNJ1c.615T>C (p.Ser205=)
c.672T>C (p.Ser224=)
c.666T>C (p.Ser222=)
11g.128839629A>TCA383244647KCNJ1c.615T>A (p.Ser205Arg)
c.672T>A (p.Ser224Arg)
c.666T>A (p.Ser222Arg)
11g.128839630C>ACA383244648KCNJ1c.614G>T (p.Ser205Ile)
c.671G>T (p.Ser224Ile)
c.665G>T (p.Ser222Ile)
11g.128839630C=CA2008250631KCNJ1c.614G= (p.Ser205=)
c.671G= (p.Ser224=)
c.665G= (p.Ser222=)
11g.128839630C>GCA383244649KCNJ1c.614G>C (p.Ser205Thr)
c.671G>C (p.Ser224Thr)
c.665G>C (p.Ser222Thr)
11g.128839630C>TCA383244650KCNJ1c.614G>A (p.Ser205Asn)
c.671G>A (p.Ser224Asn)
c.665G>A (p.Ser222Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.128839631T>ACA383244653KCNJ1c.613A>T (p.Ser205Cys)
c.670A>T (p.Ser224Cys)
c.664A>T (p.Ser222Cys)
11g.128839631T>CCA383244651KCNJ1c.613A>G (p.Ser205Gly)
c.670A>G (p.Ser224Gly)
c.664A>G (p.Ser222Gly)
11g.128839631T>GCA383244652KCNJ1c.613A>C (p.Ser205Arg)
c.670A>C (p.Ser224Arg)
c.664A>C (p.Ser222Arg)
11g.128839632delCA2575025048KCNJ1c.612del (p.Ser205ValfsTer8)
c.669del (p.Ser224ValfsTer8)
c.663del (p.Ser222ValfsTer8)
11g.128839632G>ACA477703248KCNJ1c.612C>T (p.Gly204=)
c.669C>T (p.Gly223=)
c.663C>T (p.Gly221=)
 gnomAD v4
11g.128839632G>CCA477703249KCNJ1c.612C>G (p.Gly204=)
c.669C>G (p.Gly223=)
c.663C>G (p.Gly221=)
11g.128839632G>TCA477703250KCNJ1c.612C>A (p.Gly204=)
c.669C>A (p.Gly223=)
c.663C>A (p.Gly221=)
11g.128839633C>ACA383244654KCNJ1c.611G>T (p.Gly204Val)
c.668G>T (p.Gly223Val)
c.662G>T (p.Gly221Val)
11g.128839633C=CA2008250637KCNJ1c.611G= (p.Gly204=)
c.668G= (p.Gly223=)
c.662G= (p.Gly221=)
11g.128839633C>GCA383244655KCNJ1c.611G>C (p.Gly204Ala)
c.668G>C (p.Gly223Ala)
c.662G>C (p.Gly221Ala)
11g.128839633C>TCA383244656KCNJ1c.611G>A (p.Gly204Asp)
c.668G>A (p.Gly223Asp)
c.662G>A (p.Gly221Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.128839634C>ACA383244657KCNJ1c.610G>T (p.Gly204Cys)
c.667G>T (p.Gly223Cys)
c.661G>T (p.Gly221Cys)
11g.128839634C=CA2008250643KCNJ1c.610G= (p.Gly204=)
c.667G= (p.Gly223=)
c.661G= (p.Gly221=)
11g.128839634C>GCA6357487KCNJ1c.610G>C (p.Gly204Arg)
c.667G>C (p.Gly223Arg)
c.661G>C (p.Gly221Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839634C>TCA383244658KCNJ1c.610G>A (p.Gly204Ser)
c.667G>A (p.Gly223Ser)
c.661G>A (p.Gly221Ser)
 dbSNP
11g.128839635A>CCA383244659KCNJ1c.609T>G (p.Ile203Met)
c.666T>G (p.Ile222Met)
c.660T>G (p.Ile220Met)
11g.128839635A>GCA477703251KCNJ1c.609T>C (p.Ile203=)
c.666T>C (p.Ile222=)
c.660T>C (p.Ile220=)
11g.128839635A>TCA477703252KCNJ1c.609T>A (p.Ile203=)
c.666T>A (p.Ile222=)
c.660T>A (p.Ile220=)
11g.128839636A=CA2008250651KCNJ1c.608T= (p.Ile203=)
c.665T= (p.Ile222=)
c.659T= (p.Ile220=)
11g.128839636A>CCA383244660KCNJ1c.608T>G (p.Ile203Ser)
c.665T>G (p.Ile222Ser)
c.659T>G (p.Ile220Ser)
11g.128839636A>GCA383244661KCNJ1c.608T>C (p.Ile203Thr)
c.665T>C (p.Ile222Thr)
c.659T>C (p.Ile220Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.128839636A>TCA383244662KCNJ1c.608T>A (p.Ile203Asn)
c.665T>A (p.Ile222Asn)
c.659T>A (p.Ile220Asn)
11g.128839637T>ACA383244664KCNJ1c.607A>T (p.Ile203Phe)
c.664A>T (p.Ile222Phe)
c.658A>T (p.Ile220Phe)
11g.128839637T>CCA383244665KCNJ1c.607A>G (p.Ile203Val)
c.664A>G (p.Ile222Val)
c.658A>G (p.Ile220Val)
 gnomAD v4
11g.128839637T>GCA383244663KCNJ1c.607A>C (p.Ile203Leu)
c.664A>C (p.Ile222Leu)
c.658A>C (p.Ile220Leu)
11g.128839638A=CA2008250654KCNJ1c.606T= (p.Leu202=)
c.663T= (p.Leu221=)
c.657T= (p.Leu219=)
11g.128839638A>CCA477703253KCNJ1c.606T>G (p.Leu202=)
c.663T>G (p.Leu221=)
c.657T>G (p.Leu219=)
11g.128839638A>GCA230628439KCNJ1c.606T>C (p.Leu202=)
c.663T>C (p.Leu221=)
c.657T>C (p.Leu219=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839638A>TCA477703254KCNJ1c.606T>A (p.Leu202=)
c.663T>A (p.Leu221=)
c.657T>A (p.Leu219=)
11g.128839639A>CCA383244666KCNJ1c.605T>G (p.Leu202Arg)
c.662T>G (p.Leu221Arg)
c.656T>G (p.Leu219Arg)
11g.128839639A>GCA383244667KCNJ1c.605T>C (p.Leu202Pro)
c.662T>C (p.Leu221Pro)
c.656T>C (p.Leu219Pro)
11g.128839639A>TCA383244668KCNJ1c.605T>A (p.Leu202His)
c.662T>A (p.Leu221His)
c.656T>A (p.Leu219His)
11g.128839640G>ACA383244669KCNJ1c.604C>T (p.Leu202Phe)
c.661C>T (p.Leu221Phe)
c.655C>T (p.Leu219Phe)
11g.128839640G>CCA383244670KCNJ1c.604C>G (p.Leu202Val)
c.661C>G (p.Leu221Val)
c.655C>G (p.Leu219Val)
11g.128839640G>TCA383244671KCNJ1c.604C>A (p.Leu202Ile)
c.661C>A (p.Leu221Ile)
c.655C>A (p.Leu219Ile)
11g.128839641A>CCA477703255KCNJ1c.603T>G (p.Leu201=)
c.660T>G (p.Leu220=)
c.654T>G (p.Leu218=)
11g.128839641A>GCA477703256KCNJ1c.603T>C (p.Leu201=)
c.660T>C (p.Leu220=)
c.654T>C (p.Leu218=)
11g.128839641A>TCA477703257KCNJ1c.603T>A (p.Leu201=)
c.660T>A (p.Leu220=)
c.654T>A (p.Leu218=)
11g.128839642A=CA2008250659KCNJ1c.602T= (p.Leu201=)
c.659T= (p.Leu220=)
c.653T= (p.Leu218=)
11g.128839642A>CCA383244672KCNJ1c.602T>G (p.Leu201Arg)
c.659T>G (p.Leu220Arg)
c.653T>G (p.Leu218Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839642A>GCA383244673KCNJ1c.602T>C (p.Leu201Pro)
c.659T>C (p.Leu220Pro)
c.653T>C (p.Leu218Pro)
11g.128839642A>TCA383244674KCNJ1c.602T>A (p.Leu201His)
c.659T>A (p.Leu220His)
c.653T>A (p.Leu218His)
 dbSNP
11g.128839643G>ACA6357488KCNJ1c.601C>T (p.Leu201Phe)
c.658C>T (p.Leu220Phe)
c.652C>T (p.Leu218Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839643G>CCA383244675KCNJ1c.601C>G (p.Leu201Val)
c.658C>G (p.Leu220Val)
c.652C>G (p.Leu218Val)
11g.128839643G=CA2008250670KCNJ1c.601C= (p.Leu201=)
c.658C= (p.Leu220=)
c.652C= (p.Leu218=)
11g.128839643G>TCA383244676KCNJ1c.601C>A (p.Leu201Ile)
c.658C>A (p.Leu220Ile)
c.652C>A (p.Leu218Ile)
11g.128839644G>ACA477703258KCNJ1c.600C>T (p.Ser200=)
c.657C>T (p.Ser219=)
c.651C>T (p.Ser217=)
11g.128839644G>CCA120152KCNJ1c.600C>G (p.Ser200Arg)
c.657C>G (p.Ser219Arg)
c.651C>G (p.Ser217Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839644G=CA2008250694KCNJ1c.600C= (p.Ser200=)
c.657C= (p.Ser219=)
c.651C= (p.Ser217=)
11g.128839644G>TCA383244677KCNJ1c.600C>A (p.Ser200Arg)
c.657C>A (p.Ser219Arg)
c.651C>A (p.Ser217Arg)
 ClinVar gnomAD v4
11g.128839645C>ACA383244678KCNJ1c.599G>T (p.Ser200Ile)
c.656G>T (p.Ser219Ile)
c.650G>T (p.Ser217Ile)
11g.128839645C>GCA383244679KCNJ1c.599G>C (p.Ser200Thr)
c.656G>C (p.Ser219Thr)
c.650G>C (p.Ser217Thr)
11g.128839645C>TCA383244680KCNJ1c.599G>A (p.Ser200Asn)
c.656G>A (p.Ser219Asn)
c.650G>A (p.Ser217Asn)
11g.128839646T>ACA383244681KCNJ1c.598A>T (p.Ser200Cys)
c.655A>T (p.Ser219Cys)
c.649A>T (p.Ser217Cys)
11g.128839646T>CCA383244682KCNJ1c.598A>G (p.Ser200Gly)
c.655A>G (p.Ser219Gly)
c.649A>G (p.Ser217Gly)
11g.128839646T>GCA383244683KCNJ1c.598A>C (p.Ser200Arg)
c.655A>C (p.Ser219Arg)
c.649A>C (p.Ser217Arg)
11g.128839647C>ACA383244684KCNJ1c.597G>T (p.Lys199Asn)
c.654G>T (p.Lys218Asn)
c.648G>T (p.Lys216Asn)
11g.128839647C=CA2008250698KCNJ1c.597G= (p.Lys199=)
c.654G= (p.Lys218=)
c.648G= (p.Lys216=)
11g.128839647C>GCA383244685KCNJ1c.597G>C (p.Lys199Asn)
c.654G>C (p.Lys218Asn)
c.648G>C (p.Lys216Asn)
 dbSNP
11g.128839647C>TCA477703259KCNJ1c.597G>A (p.Lys199=)
c.654G>A (p.Lys218=)
c.648G>A (p.Lys216=)
11g.128839648T>ACA383244686KCNJ1c.596A>T (p.Lys199Met)
c.653A>T (p.Lys218Met)
c.647A>T (p.Lys216Met)
 dbSNP gnomAD v4
11g.128839648T>CCA383244687KCNJ1c.596A>G (p.Lys199Arg)
c.653A>G (p.Lys218Arg)
c.647A>G (p.Lys216Arg)
11g.128839648T>GCA383244688KCNJ1c.596A>C (p.Lys199Thr)
c.653A>C (p.Lys218Thr)
c.647A>C (p.Lys216Thr)
11g.128839648T=CA2008250706KCNJ1c.596A= (p.Lys199=)
c.653A= (p.Lys218=)
c.647A= (p.Lys216=)
11g.128839649T>ACA383244689KCNJ1c.595A>T (p.Lys199Ter)
c.652A>T (p.Lys218Ter)
c.646A>T (p.Lys216Ter)
 dbSNP gnomAD v4
11g.128839649T>CCA383244690KCNJ1c.595A>G (p.Lys199Glu)
c.652A>G (p.Lys218Glu)
c.646A>G (p.Lys216Glu)
11g.128839649T>GCA383244691KCNJ1c.595A>C (p.Lys199Gln)
c.652A>C (p.Lys218Gln)
c.646A>C (p.Lys216Gln)
11g.128839649T=CA2008250715KCNJ1c.595A= (p.Lys199=)
c.652A= (p.Lys218=)
c.646A= (p.Lys216=)

Number of alleles fetched