Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839487T>ACA6357458KCNJ1c.757A>T (p.Ile253Phe)
c.814A>T (p.Ile272Phe)
c.808A>T (p.Ile270Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839487T>CCA6357457KCNJ1c.757A>G (p.Ile253Val)
c.814A>G (p.Ile272Val)
c.808A>G (p.Ile270Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839487T>GCA383243967KCNJ1c.757A>C (p.Ile253Leu)
c.814A>C (p.Ile272Leu)
c.808A>C (p.Ile270Leu)
11g.128839487T=CA2008286567KCNJ1c.757A= (p.Ile253=)
c.814A= (p.Ile272=)
c.808A= (p.Ile270=)
11g.128839488G>ACA477702967KCNJ1c.756C>T (p.Val252=)
c.813C>T (p.Val271=)
c.807C>T (p.Val269=)
11g.128839488G>CCA477702971KCNJ1c.756C>G (p.Val252=)
c.813C>G (p.Val271=)
c.807C>G (p.Val269=)
 gnomAD v4
11g.128839488G=CA2008286570KCNJ1c.756C= (p.Val252=)
c.813C= (p.Val271=)
c.807C= (p.Val269=)
11g.128839488G>TCA477702972KCNJ1c.756C>A (p.Val252=)
c.813C>A (p.Val271=)
c.807C>A (p.Val269=)
 dbSNP gnomAD v3 gnomAD v4
11g.128839489A>CCA383243970KCNJ1c.755T>G (p.Val252Gly)
c.812T>G (p.Val271Gly)
c.806T>G (p.Val269Gly)
 gnomAD v4
11g.128839489A>GCA383243972KCNJ1c.755T>C (p.Val252Ala)
c.812T>C (p.Val271Ala)
c.806T>C (p.Val269Ala)
 COSMIC
11g.128839489A>TCA383243974KCNJ1c.755T>A (p.Val252Asp)
c.812T>A (p.Val271Asp)
c.806T>A (p.Val269Asp)
11g.128839490C>ACA383243977KCNJ1c.754G>T (p.Val252Phe)
c.811G>T (p.Val271Phe)
c.805G>T (p.Val269Phe)
11g.128839490C=CA2008286573KCNJ1c.754G= (p.Val252=)
c.811G= (p.Val271=)
c.805G= (p.Val269=)
11g.128839490C>GCA383243976KCNJ1c.754G>C (p.Val252Leu)
c.811G>C (p.Val271Leu)
c.805G>C (p.Val269Leu)
11g.128839490C>TCA6357459KCNJ1c.754G>A (p.Val252Ile)
c.811G>A (p.Val271Ile)
c.805G>A (p.Val269Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839491A>CCA383243980KCNJ1c.753T>G (p.His251Gln)
c.810T>G (p.His270Gln)
c.804T>G (p.His268Gln)
11g.128839491A>GCA477702975KCNJ1c.753T>C (p.His251=)
c.810T>C (p.His270=)
c.804T>C (p.His268=)
11g.128839491A>TCA383243981KCNJ1c.753T>A (p.His251Gln)
c.810T>A (p.His270Gln)
c.804T>A (p.His268Gln)
11g.128839492T>ACA383243983KCNJ1c.752A>T (p.His251Leu)
c.809A>T (p.His270Leu)
c.803A>T (p.His268Leu)
11g.128839492T>CCA383243987KCNJ1c.752A>G (p.His251Arg)
c.809A>G (p.His270Arg)
c.803A>G (p.His268Arg)
 dbSNP gnomAD v4
11g.128839492T>GCA383243985KCNJ1c.752A>C (p.His251Pro)
c.809A>C (p.His270Pro)
c.803A>C (p.His268Pro)
11g.128839492T=CA2008286576KCNJ1c.752A= (p.His251=)
c.809A= (p.His270=)
c.803A= (p.His268=)
11g.128839493G>ACA6357460KCNJ1c.751C>T (p.His251Tyr)
c.808C>T (p.His270Tyr)
c.802C>T (p.His268Tyr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.128839493G>CCA383243991KCNJ1c.751C>G (p.His251Asp)
c.808C>G (p.His270Asp)
c.802C>G (p.His268Asp)
11g.128839493G=CA2008286578KCNJ1c.751C= (p.His251=)
c.808C= (p.His270=)
c.802C= (p.His268=)
11g.128839493G>TCA383243989KCNJ1c.751C>A (p.His251Asn)
c.808C>A (p.His270Asn)
c.802C>A (p.His268Asn)
11g.128839494G>ACA6357461KCNJ1c.750C>T (p.Tyr250=)
c.807C>T (p.Tyr269=)
c.801C>T (p.Tyr267=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839494G>CCA383243996KCNJ1c.750C>G (p.Tyr250Ter)
c.807C>G (p.Tyr269Ter)
c.801C>G (p.Tyr267Ter)
11g.128839494G=CA2008286583KCNJ1c.750C= (p.Tyr250=)
c.807C= (p.Tyr269=)
c.801C= (p.Tyr267=)
11g.128839494G>TCA383243993KCNJ1c.750C>A (p.Tyr250Ter)
c.807C>A (p.Tyr269Ter)
c.801C>A (p.Tyr267Ter)
11g.128839495T>ACA383243998KCNJ1c.749A>T (p.Tyr250Phe)
c.806A>T (p.Tyr269Phe)
c.800A>T (p.Tyr267Phe)
11g.128839495T>CCA383243999KCNJ1c.749A>G (p.Tyr250Cys)
c.806A>G (p.Tyr269Cys)
c.800A>G (p.Tyr267Cys)
11g.128839495T>GCA383244000KCNJ1c.749A>C (p.Tyr250Ser)
c.806A>C (p.Tyr269Ser)
c.800A>C (p.Tyr267Ser)
11g.128839496A>CCA383244001KCNJ1c.748T>G (p.Tyr250Asp)
c.805T>G (p.Tyr269Asp)
c.799T>G (p.Tyr267Asp)
11g.128839496A>GCA383244003KCNJ1c.748T>C (p.Tyr250His)
c.805T>C (p.Tyr269His)
c.799T>C (p.Tyr267His)
11g.128839496A>TCA383244005KCNJ1c.748T>A (p.Tyr250Asn)
c.805T>A (p.Tyr269Asn)
c.799T>A (p.Tyr267Asn)
11g.128839497A>CCA383244006KCNJ1c.747T>G (p.Ile249Met)
c.804T>G (p.Ile268Met)
c.798T>G (p.Ile266Met)
11g.128839497A>GCA477702982KCNJ1c.747T>C (p.Ile249=)
c.804T>C (p.Ile268=)
c.798T>C (p.Ile266=)
11g.128839497A>TCA477702983KCNJ1c.747T>A (p.Ile249=)
c.804T>A (p.Ile268=)
c.798T>A (p.Ile266=)
11g.128839498A>CCA383244013KCNJ1c.746T>G (p.Ile249Ser)
c.803T>G (p.Ile268Ser)
c.797T>G (p.Ile266Ser)
11g.128839498A>GCA383244014KCNJ1c.746T>C (p.Ile249Thr)
c.803T>C (p.Ile268Thr)
c.797T>C (p.Ile266Thr)
11g.128839498A>TCA383244016KCNJ1c.746T>A (p.Ile249Asn)
c.803T>A (p.Ile268Asn)
c.797T>A (p.Ile266Asn)
11g.128839499T>ACA383244020KCNJ1c.745A>T (p.Ile249Phe)
c.802A>T (p.Ile268Phe)
c.796A>T (p.Ile266Phe)
11g.128839499T>CCA383244023KCNJ1c.745A>G (p.Ile249Val)
c.802A>G (p.Ile268Val)
c.796A>G (p.Ile266Val)
 gnomAD v4
11g.128839499T>GCA383244025KCNJ1c.745A>C (p.Ile249Leu)
c.802A>C (p.Ile268Leu)
c.796A>C (p.Ile266Leu)
11g.128839500T>ACA477702989KCNJ1c.744A>T (p.Thr248=)
c.801A>T (p.Thr267=)
c.795A>T (p.Thr265=)
11g.128839500T>CCA477702988KCNJ1c.744A>G (p.Thr248=)
c.801A>G (p.Thr267=)
c.795A>G (p.Thr265=)
 dbSNP gnomAD v4
11g.128839500T>GCA477702987KCNJ1c.744A>C (p.Thr248=)
c.801A>C (p.Thr267=)
c.795A>C (p.Thr265=)
11g.128839500T=CA2008286587KCNJ1c.744A= (p.Thr248=)
c.801A= (p.Thr267=)
c.795A= (p.Thr265=)
11g.128839501G>ACA383244027KCNJ1c.743C>T (p.Thr248Ile)
c.800C>T (p.Thr267Ile)
c.794C>T (p.Thr265Ile)
 gnomAD v4
11g.128839501G>CCA383244029KCNJ1c.743C>G (p.Thr248Arg)
c.800C>G (p.Thr267Arg)
c.794C>G (p.Thr265Arg)
11g.128839501G>TCA383244028KCNJ1c.743C>A (p.Thr248Lys)
c.800C>A (p.Thr267Lys)
c.794C>A (p.Thr265Lys)
11g.128839502T>ACA383244030KCNJ1c.742A>T (p.Thr248Ser)
c.799A>T (p.Thr267Ser)
c.793A>T (p.Thr265Ser)
11g.128839502T>CCA383244032KCNJ1c.742A>G (p.Thr248Ala)
c.799A>G (p.Thr267Ala)
c.793A>G (p.Thr265Ala)
11g.128839502T>GCA383244034KCNJ1c.742A>C (p.Thr248Pro)
c.799A>C (p.Thr267Pro)
c.793A>C (p.Thr265Pro)
11g.128839503C>ACA383244036KCNJ1c.741G>T (p.Leu247Phe)
c.798G>T (p.Leu266Phe)
c.792G>T (p.Leu264Phe)
11g.128839503C=CA2008286591KCNJ1c.741G= (p.Leu247=)
c.798G= (p.Leu266=)
c.792G= (p.Leu264=)
11g.128839503C>GCA383244038KCNJ1c.741G>C (p.Leu247Phe)
c.798G>C (p.Leu266Phe)
c.792G>C (p.Leu264Phe)
11g.128839503C>TCA477702993KCNJ1c.741G>A (p.Leu247=)
c.798G>A (p.Leu266=)
c.792G>A (p.Leu264=)
 dbSNP gnomAD v4
11g.128839504A>CCA383244042KCNJ1c.740T>G (p.Leu247Trp)
c.797T>G (p.Leu266Trp)
c.791T>G (p.Leu264Trp)
11g.128839504A>GCA383244044KCNJ1c.740T>C (p.Leu247Ser)
c.797T>C (p.Leu266Ser)
c.791T>C (p.Leu264Ser)
11g.128839504A>TCA383244058KCNJ1c.740T>A (p.Leu247Ter)
c.797T>A (p.Leu266Ter)
c.791T>A (p.Leu264Ter)
11g.128839505A>CCA383244061KCNJ1c.739T>G (p.Leu247Val)
c.796T>G (p.Leu266Val)
c.790T>G (p.Leu264Val)
11g.128839505A>GCA477702994KCNJ1c.739T>C (p.Leu247=)
c.796T>C (p.Leu266=)
c.790T>C (p.Leu264=)
 gnomAD v4
11g.128839505A>TCA383244063KCNJ1c.739T>A (p.Leu247Met)
c.796T>A (p.Leu266Met)
c.790T>A (p.Leu264Met)
11g.128839506T>ACA477702996KCNJ1c.738A>T (p.Pro246=)
c.795A>T (p.Pro265=)
c.789A>T (p.Pro263=)
11g.128839506T>CCA6357462KCNJ1c.738A>G (p.Pro246=)
c.795A>G (p.Pro265=)
c.789A>G (p.Pro263=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839506T>GCA477702997KCNJ1c.738A>C (p.Pro246=)
c.795A>C (p.Pro265=)
c.789A>C (p.Pro263=)
11g.128839506T=CA2008286598KCNJ1c.738A= (p.Pro246=)
c.795A= (p.Pro265=)
c.789A= (p.Pro263=)
11g.128839506_128839507delinsTGCA2008286599KCNJ1c.737_738delinsCA (p.Pro246=)
c.794_795delinsCA (p.Pro265=)
c.788_789delinsCA (p.Pro263=)
11g.128839507G>ACA383244070KCNJ1c.737C>T (p.Pro246Leu)
c.794C>T (p.Pro265Leu)
c.788C>T (p.Pro263Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839507G>CCA383244066KCNJ1c.737C>G (p.Pro246Arg)
c.794C>G (p.Pro265Arg)
c.788C>G (p.Pro263Arg)
11g.128839507G=CA2008286603KCNJ1c.737C= (p.Pro246=)
c.794C= (p.Pro265=)
c.788C= (p.Pro263=)
11g.128839507G>TCA383244068KCNJ1c.737C>A (p.Pro246Gln)
c.794C>A (p.Pro265Gln)
c.788C>A (p.Pro263Gln)
11g.128839510delCA230628244KCNJ1c.737del (p.Pro246HisfsTer2)
c.794del (p.Pro265HisfsTer2)
c.788del (p.Pro263HisfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839508G>ACA6357463KCNJ1c.736C>T (p.Pro246Ser)
c.793C>T (p.Pro265Ser)
c.787C>T (p.Pro263Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839508G>CCA383244073KCNJ1c.736C>G (p.Pro246Ala)
c.793C>G (p.Pro265Ala)
c.787C>G (p.Pro263Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.128839508G=CA2008286606KCNJ1c.736C= (p.Pro246=)
c.793C= (p.Pro265=)
c.787C= (p.Pro263=)
11g.128839508G>TCA383244074KCNJ1c.736C>A (p.Pro246Thr)
c.793C>A (p.Pro265Thr)
c.787C>A (p.Pro263Thr)
11g.128839509G>ACA6357464KCNJ1c.735C>T (p.Ser245=)
c.792C>T (p.Ser264=)
c.786C>T (p.Ser262=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839509G>CCA477703001KCNJ1c.735C>G (p.Ser245=)
c.792C>G (p.Ser264=)
c.786C>G (p.Ser262=)
11g.128839509G=CA2008286611KCNJ1c.735C= (p.Ser245=)
c.792C= (p.Ser264=)
c.786C= (p.Ser262=)
11g.128839509G>TCA477703002KCNJ1c.735C>A (p.Ser245=)
c.792C>A (p.Ser264=)
c.786C>A (p.Ser262=)
11g.128839510G>ACA383244083KCNJ1c.734C>T (p.Ser245Phe)
c.791C>T (p.Ser264Phe)
c.785C>T (p.Ser262Phe)
11g.128839510G>CCA383244080KCNJ1c.734C>G (p.Ser245Cys)
c.791C>G (p.Ser264Cys)
c.785C>G (p.Ser262Cys)
 gnomAD v4
11g.128839510G>TCA383244082KCNJ1c.734C>A (p.Ser245Tyr)
c.791C>A (p.Ser264Tyr)
c.785C>A (p.Ser262Tyr)
11g.128839511A=CA2008286613KCNJ1c.733T= (p.Ser245=)
c.790T= (p.Ser264=)
c.784T= (p.Ser262=)
11g.128839511A>CCA383244086KCNJ1c.733T>G (p.Ser245Ala)
c.790T>G (p.Ser264Ala)
c.784T>G (p.Ser262Ala)
11g.128839511A>GCA6357465KCNJ1c.733T>C (p.Ser245Pro)
c.790T>C (p.Ser264Pro)
c.784T>C (p.Ser262Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839511A>TCA383244090KCNJ1c.733T>A (p.Ser245Thr)
c.790T>A (p.Ser264Thr)
c.784T>A (p.Ser262Thr)
 dbSNP
11g.128839512G>ACA10638456KCNJ1c.732C>T (p.Ile244=)
c.789C>T (p.Ile263=)
c.783C>T (p.Ile261=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839512G>CCA383244094KCNJ1c.732C>G (p.Ile244Met)
c.789C>G (p.Ile263Met)
c.783C>G (p.Ile261Met)
11g.128839512G=CA2008286622KCNJ1c.732C= (p.Ile244=)
c.789C= (p.Ile263=)
c.783C= (p.Ile261=)
11g.128839512G>TCA477703006KCNJ1c.732C>A (p.Ile244=)
c.789C>A (p.Ile263=)
c.783C>A (p.Ile261=)
11g.128839513A>CCA383244097KCNJ1c.731T>G (p.Ile244Ser)
c.788T>G (p.Ile263Ser)
c.782T>G (p.Ile261Ser)
11g.128839513A>GCA383244101KCNJ1c.731T>C (p.Ile244Thr)
c.788T>C (p.Ile263Thr)
c.782T>C (p.Ile261Thr)
11g.128839513A>TCA383244099KCNJ1c.731T>A (p.Ile244Asn)
c.788T>A (p.Ile263Asn)
c.782T>A (p.Ile261Asn)
11g.128839514T>ACA383244104KCNJ1c.730A>T (p.Ile244Phe)
c.787A>T (p.Ile263Phe)
c.781A>T (p.Ile261Phe)
11g.128839514T>CCA6357466KCNJ1c.730A>G (p.Ile244Val)
c.787A>G (p.Ile263Val)
c.781A>G (p.Ile261Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839514T>GCA383244107KCNJ1c.730A>C (p.Ile244Leu)
c.787A>C (p.Ile263Leu)
c.781A>C (p.Ile261Leu)
11g.128839514T=CA2008286626KCNJ1c.730A= (p.Ile244=)
c.787A= (p.Ile263=)
c.781A= (p.Ile261=)
11g.128839515G>ACA477703007KCNJ1c.729C>T (p.Phe243=)
c.786C>T (p.Phe262=)
c.780C>T (p.Phe260=)
 dbSNP gnomAD v2 gnomAD v4
11g.128839515G>CCA383244111KCNJ1c.729C>G (p.Phe243Leu)
c.786C>G (p.Phe262Leu)
c.780C>G (p.Phe260Leu)
11g.128839515G=CA2008286628KCNJ1c.729C= (p.Phe243=)
c.786C= (p.Phe262=)
c.780C= (p.Phe260=)
11g.128839515G>TCA383244113KCNJ1c.729C>A (p.Phe243Leu)
c.786C>A (p.Phe262Leu)
c.780C>A (p.Phe260Leu)
11g.128839516A>CCA383244116KCNJ1c.728T>G (p.Phe243Cys)
c.785T>G (p.Phe262Cys)
c.779T>G (p.Phe260Cys)
11g.128839516A>GCA383244119KCNJ1c.728T>C (p.Phe243Ser)
c.785T>C (p.Phe262Ser)
c.779T>C (p.Phe260Ser)
11g.128839516A>TCA383244121KCNJ1c.728T>A (p.Phe243Tyr)
c.785T>A (p.Phe262Tyr)
c.779T>A (p.Phe260Tyr)
11g.128839517A>CCA383244124KCNJ1c.727T>G (p.Phe243Val)
c.784T>G (p.Phe262Val)
c.778T>G (p.Phe260Val)
11g.128839517A>GCA383244126KCNJ1c.727T>C (p.Phe243Leu)
c.784T>C (p.Phe262Leu)
c.778T>C (p.Phe260Leu)
11g.128839517A>TCA383244128KCNJ1c.727T>A (p.Phe243Ile)
c.784T>A (p.Phe262Ile)
c.778T>A (p.Phe260Ile)
11g.128839518G>ACA477703010KCNJ1c.726C>T (p.Phe242=)
c.783C>T (p.Phe261=)
c.777C>T (p.Phe259=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839518G>CCA383244131KCNJ1c.726C>G (p.Phe242Leu)
c.783C>G (p.Phe261Leu)
c.777C>G (p.Phe259Leu)
11g.128839518G=CA2008286634KCNJ1c.726C= (p.Phe242=)
c.783C= (p.Phe261=)
c.777C= (p.Phe259=)
11g.128839518G>TCA383244133KCNJ1c.726C>A (p.Phe242Leu)
c.783C>A (p.Phe261Leu)
c.777C>A (p.Phe259Leu)
 gnomAD v4
11g.128839519A>CCA383244136KCNJ1c.725T>G (p.Phe242Cys)
c.782T>G (p.Phe261Cys)
c.776T>G (p.Phe259Cys)
11g.128839519A>GCA383244140KCNJ1c.725T>C (p.Phe242Ser)
c.782T>C (p.Phe261Ser)
c.776T>C (p.Phe259Ser)
11g.128839519A>TCA383244138KCNJ1c.725T>A (p.Phe242Tyr)
c.782T>A (p.Phe261Tyr)
c.776T>A (p.Phe259Tyr)
11g.128839520A>CCA383244143KCNJ1c.724T>G (p.Phe242Val)
c.781T>G (p.Phe261Val)
c.775T>G (p.Phe259Val)
 gnomAD v4
11g.128839520A>GCA383244144KCNJ1c.724T>C (p.Phe242Leu)
c.781T>C (p.Phe261Leu)
c.775T>C (p.Phe259Leu)
11g.128839520A>TCA383244146KCNJ1c.724T>A (p.Phe242Ile)
c.781T>A (p.Phe261Ile)
c.775T>A (p.Phe259Ile)
11g.128839521T>ACA383244149KCNJ1c.723A>T (p.Leu241Phe)
c.780A>T (p.Leu260Phe)
c.774A>T (p.Leu258Phe)
11g.128839521T>CCA477703014KCNJ1c.723A>G (p.Leu241=)
c.780A>G (p.Leu260=)
c.774A>G (p.Leu258=)
 dbSNP
11g.128839521T>GCA383244151KCNJ1c.723A>C (p.Leu241Phe)
c.780A>C (p.Leu260Phe)
c.774A>C (p.Leu258Phe)
 gnomAD v4
11g.128839521T=CA2008286639KCNJ1c.723A= (p.Leu241=)
c.780A= (p.Leu260=)
c.774A= (p.Leu258=)
11g.128839522A>CCA383244153KCNJ1c.722T>G (p.Leu241Ter)
c.779T>G (p.Leu260Ter)
c.773T>G (p.Leu258Ter)
11g.128839522A>GCA383244156KCNJ1c.722T>C (p.Leu241Ser)
c.779T>C (p.Leu260Ser)
c.773T>C (p.Leu258Ser)
11g.128839522A>TCA383244158KCNJ1c.722T>A (p.Leu241Ter)
c.779T>A (p.Leu260Ter)
c.773T>A (p.Leu258Ter)
11g.128839523A=CA2008286643KCNJ1c.721T= (p.Leu241=)
c.778T= (p.Leu260=)
c.772T= (p.Leu258=)
11g.128839523A>CCA383244161KCNJ1c.721T>G (p.Leu241Val)
c.778T>G (p.Leu260Val)
c.772T>G (p.Leu258Val)
 dbSNP gnomAD v4
11g.128839523A>GCA477703015KCNJ1c.721T>C (p.Leu241=)
c.778T>C (p.Leu260=)
c.772T>C (p.Leu258=)
11g.128839523A>TCA383244163KCNJ1c.721T>A (p.Leu241Ile)
c.778T>A (p.Leu260Ile)
c.772T>A (p.Leu258Ile)
11g.128839524A>CCA383244167KCNJ1c.720T>G (p.Asn240Lys)
c.777T>G (p.Asn259Lys)
c.771T>G (p.Asn257Lys)
11g.128839524A>GCA477703016KCNJ1c.720T>C (p.Asn240=)
c.777T>C (p.Asn259=)
c.771T>C (p.Asn257=)
11g.128839524A>TCA383244169KCNJ1c.720T>A (p.Asn240Lys)
c.777T>A (p.Asn259Lys)
c.771T>A (p.Asn257Lys)
11g.128839525T>ACA383244176KCNJ1c.719A>T (p.Asn240Ile)
c.776A>T (p.Asn259Ile)
c.770A>T (p.Asn257Ile)
11g.128839525T>CCA383244173KCNJ1c.719A>G (p.Asn240Ser)
c.776A>G (p.Asn259Ser)
c.770A>G (p.Asn257Ser)
11g.128839525T>GCA216047KCNJ1c.719A>C (p.Asn240Thr)
c.776A>C (p.Asn259Thr)
c.770A>C (p.Asn257Thr)
 ClinVar dbSNP
11g.128839525T=CA2008286649KCNJ1c.719A= (p.Asn240=)
c.776A= (p.Asn259=)
c.770A= (p.Asn257=)
11g.128839525_128839526insACAAACACATATACAGAAACCA2616771382KCNJ1c.718_719insGTTTCTGTATATGTGTTTGT (p.Asn240SerfsTer15)
c.775_776insGTTTCTGTATATGTGTTTGT (p.Asn259SerfsTer15)
c.769_770insGTTTCTGTATATGTGTTTGT (p.Asn257SerfsTer15)
 gnomAD v4
11g.128839526T>ACA383244179KCNJ1c.718A>T (p.Asn240Tyr)
c.775A>T (p.Asn259Tyr)
c.769A>T (p.Asn257Tyr)
 gnomAD v4
11g.128839526T>CCA383244181KCNJ1c.718A>G (p.Asn240Asp)
c.775A>G (p.Asn259Asp)
c.769A>G (p.Asn257Asp)
11g.128839526T>GCA383244183KCNJ1c.718A>C (p.Asn240His)
c.775A>C (p.Asn259His)
c.769A>C (p.Asn257His)
11g.128839527T>ACA383244186KCNJ1c.717A>T (p.Glu239Asp)
c.774A>T (p.Glu258Asp)
c.768A>T (p.Glu256Asp)
11g.128839527T>CCA477703017KCNJ1c.717A>G (p.Glu239=)
c.774A>G (p.Glu258=)
c.768A>G (p.Glu256=)
11g.128839527T>GCA383244188KCNJ1c.717A>C (p.Glu239Asp)
c.774A>C (p.Glu258Asp)
c.768A>C (p.Glu256Asp)
11g.128839528T>ACA383244191KCNJ1c.716A>T (p.Glu239Val)
c.773A>T (p.Glu258Val)
c.767A>T (p.Glu256Val)
11g.128839528T>CCA383244193KCNJ1c.716A>G (p.Glu239Gly)
c.773A>G (p.Glu258Gly)
c.767A>G (p.Glu256Gly)
11g.128839528T>GCA383244196KCNJ1c.716A>C (p.Glu239Ala)
c.773A>C (p.Glu258Ala)
c.767A>C (p.Glu256Ala)
11g.128839529C>ACA383244199KCNJ1c.715G>T (p.Glu239Ter)
c.772G>T (p.Glu258Ter)
c.766G>T (p.Glu256Ter)
11g.128839529C>GCA383244201KCNJ1c.715G>C (p.Glu239Gln)
c.772G>C (p.Glu258Gln)
c.766G>C (p.Glu256Gln)
11g.128839529C>TCA383244203KCNJ1c.715G>A (p.Glu239Lys)
c.772G>A (p.Glu258Lys)
c.766G>A (p.Glu256Lys)
 gnomAD v4 COSMIC
11g.128839530A=CA2008286655KCNJ1c.714T= (p.Asn238=)
c.771T= (p.Asn257=)
c.765T= (p.Asn255=)
11g.128839530A>CCA383244208KCNJ1c.714T>G (p.Asn238Lys)
c.771T>G (p.Asn257Lys)
c.765T>G (p.Asn255Lys)
 dbSNP gnomAD v4
11g.128839530A>GCA6357467KCNJ1c.714T>C (p.Asn238=)
c.771T>C (p.Asn257=)
c.765T>C (p.Asn255=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839530A>TCA383244206KCNJ1c.714T>A (p.Asn238Lys)
c.771T>A (p.Asn257Lys)
c.765T>A (p.Asn255Lys)
11g.128839531T>ACA383244210KCNJ1c.713A>T (p.Asn238Ile)
c.770A>T (p.Asn257Ile)
c.764A>T (p.Asn255Ile)
11g.128839531T>CCA383244212KCNJ1c.713A>G (p.Asn238Ser)
c.770A>G (p.Asn257Ser)
c.764A>G (p.Asn255Ser)
 gnomAD v4
11g.128839531T>GCA383244214KCNJ1c.713A>C (p.Asn238Thr)
c.770A>C (p.Asn257Thr)
c.764A>C (p.Asn255Thr)
11g.128839532T>ACA383244216KCNJ1c.712A>T (p.Asn238Tyr)
c.769A>T (p.Asn257Tyr)
c.763A>T (p.Asn255Tyr)
11g.128839532T>CCA383244217KCNJ1c.712A>G (p.Asn238Asp)
c.769A>G (p.Asn257Asp)
c.763A>G (p.Asn255Asp)
11g.128839532T>GCA383244218KCNJ1c.712A>C (p.Asn238His)
c.769A>C (p.Asn257His)
c.763A>C (p.Asn255His)
11g.128839533C>ACA477703108KCNJ1c.711G>T (p.Gly237=)
c.768G>T (p.Gly256=)
c.762G>T (p.Gly254=)
11g.128839533C=CA2008286659KCNJ1c.711G= (p.Gly237=)
c.768G= (p.Gly256=)
c.762G= (p.Gly254=)
11g.128839533C>GCA477703110KCNJ1c.711G>C (p.Gly237=)
c.768G>C (p.Gly256=)
c.762G>C (p.Gly254=)
11g.128839533C>TCA6357468KCNJ1c.711G>A (p.Gly237=)
c.768G>A (p.Gly256=)
c.762G>A (p.Gly254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839534C>ACA383244223KCNJ1c.710G>T (p.Gly237Val)
c.767G>T (p.Gly256Val)
c.761G>T (p.Gly254Val)
11g.128839534C=CA2008286661KCNJ1c.710G= (p.Gly237=)
c.767G= (p.Gly256=)
c.761G= (p.Gly254=)
11g.128839534C>GCA230628273KCNJ1c.710G>C (p.Gly237Ala)
c.767G>C (p.Gly256Ala)
c.761G>C (p.Gly254Ala)
 dbSNP
11g.128839534C>TCA383244226KCNJ1c.710G>A (p.Gly237Glu)
c.767G>A (p.Gly256Glu)
c.761G>A (p.Gly254Glu)
 COSMIC
11g.128839535C>ACA383244229KCNJ1c.709G>T (p.Gly237Trp)
c.766G>T (p.Gly256Trp)
c.760G>T (p.Gly254Trp)
11g.128839535C>GCA383244231KCNJ1c.709G>C (p.Gly237Arg)
c.766G>C (p.Gly256Arg)
c.760G>C (p.Gly254Arg)
11g.128839535C>TCA383244234KCNJ1c.709G>A (p.Gly237Arg)
c.766G>A (p.Gly256Arg)
c.760G>A (p.Gly254Arg)
11g.128839536A>CCA477703118KCNJ1c.708T>G (p.Ala236=)
c.765T>G (p.Ala255=)
c.759T>G (p.Ala253=)
11g.128839536A>GCA477703120KCNJ1c.708T>C (p.Ala236=)
c.765T>C (p.Ala255=)
c.759T>C (p.Ala253=)
11g.128839536A>TCA477703122KCNJ1c.708T>A (p.Ala236=)
c.765T>A (p.Ala255=)
c.759T>A (p.Ala253=)
11g.128839537G>ACA383244238KCNJ1c.707C>T (p.Ala236Val)
c.764C>T (p.Ala255Val)
c.758C>T (p.Ala253Val)
 gnomAD v4
11g.128839537G>CCA383244235KCNJ1c.707C>G (p.Ala236Gly)
c.764C>G (p.Ala255Gly)
c.758C>G (p.Ala253Gly)
11g.128839537G=CA2008286663KCNJ1c.707C= (p.Ala236=)
c.764C= (p.Ala255=)
c.758C= (p.Ala253=)
11g.128839537G>TCA383244237KCNJ1c.707C>A (p.Ala236Asp)
c.764C>A (p.Ala255Asp)
c.758C>A (p.Ala253Asp)
 dbSNP
11g.128839538C>ACA230628276KCNJ1c.706G>T (p.Ala236Ser)
c.763G>T (p.Ala255Ser)
c.757G>T (p.Ala253Ser)
 dbSNP
11g.128839538C=CA2008286665KCNJ1c.706G= (p.Ala236=)
c.763G= (p.Ala255=)
c.757G= (p.Ala253=)
11g.128839538C>GCA383244244KCNJ1c.706G>C (p.Ala236Pro)
c.763G>C (p.Ala255Pro)
c.757G>C (p.Ala253Pro)
11g.128839538C>TCA6357469KCNJ1c.706G>A (p.Ala236Thr)
c.763G>A (p.Ala255Thr)
c.757G>A (p.Ala253Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839539G>ACA6357470KCNJ1c.705C>T (p.Asp235=)
c.762C>T (p.Asp254=)
c.756C>T (p.Asp252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839539G>CCA383244250KCNJ1c.705C>G (p.Asp235Glu)
c.762C>G (p.Asp254Glu)
c.756C>G (p.Asp252Glu)
11g.128839539G=CA2008286674KCNJ1c.705C= (p.Asp235=)
c.762C= (p.Asp254=)
c.756C= (p.Asp252=)
11g.128839539G>TCA383244252KCNJ1c.705C>A (p.Asp235Glu)
c.762C>A (p.Asp254Glu)
c.756C>A (p.Asp252Glu)
11g.128839540T>ACA383244256KCNJ1c.704A>T (p.Asp235Val)
c.761A>T (p.Asp254Val)
c.755A>T (p.Asp252Val)
11g.128839540T>CCA383244258KCNJ1c.704A>G (p.Asp235Gly)
c.761A>G (p.Asp254Gly)
c.755A>G (p.Asp252Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.128839540T>GCA383244260KCNJ1c.704A>C (p.Asp235Ala)
c.761A>C (p.Asp254Ala)
c.755A>C (p.Asp252Ala)
11g.128839540T=CA2008286677KCNJ1c.704A= (p.Asp235=)
c.761A= (p.Asp254=)
c.755A= (p.Asp252=)
11g.128839541C>ACA383244264KCNJ1c.703G>T (p.Asp235Tyr)
c.760G>T (p.Asp254Tyr)
c.754G>T (p.Asp252Tyr)
11g.128839541C=CA2008286679KCNJ1c.703G= (p.Asp235=)
c.760G= (p.Asp254=)
c.754G= (p.Asp252=)
11g.128839541C>GCA383244266KCNJ1c.703G>C (p.Asp235His)
c.760G>C (p.Asp254His)
c.754G>C (p.Asp252His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839541C>TCA383244268KCNJ1c.703G>A (p.Asp235Asn)
c.760G>A (p.Asp254Asn)
c.754G>A (p.Asp252Asn)
 gnomAD v4
11g.128839542A=CA2008286682KCNJ1c.702T= (p.Val234=)
c.759T= (p.Val253=)
c.753T= (p.Val251=)
11g.128839542A>CCA477703124KCNJ1c.702T>G (p.Val234=)
c.759T>G (p.Val253=)
c.753T>G (p.Val251=)
11g.128839542A>GCA6357471KCNJ1c.702T>C (p.Val234=)
c.759T>C (p.Val253=)
c.753T>C (p.Val251=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839542A>TCA477703125KCNJ1c.702T>A (p.Val234=)
c.759T>A (p.Val253=)
c.753T>A (p.Val251=)
11g.128839543A=CA2008286683KCNJ1c.701T= (p.Val234=)
c.758T= (p.Val253=)
c.752T= (p.Val251=)
11g.128839543A>CCA383244275KCNJ1c.701T>G (p.Val234Gly)
c.758T>G (p.Val253Gly)
c.752T>G (p.Val251Gly)
11g.128839543A>GCA230628283KCNJ1c.701T>C (p.Val234Ala)
c.758T>C (p.Val253Ala)
c.752T>C (p.Val251Ala)
 dbSNP
11g.128839543A>TCA383244278KCNJ1c.701T>A (p.Val234Asp)
c.758T>A (p.Val253Asp)
c.752T>A (p.Val251Asp)
11g.128839544C>ACA383244281KCNJ1c.700G>T (p.Val234Phe)
c.757G>T (p.Val253Phe)
c.751G>T (p.Val251Phe)
11g.128839544C>GCA383244286KCNJ1c.700G>C (p.Val234Leu)
c.757G>C (p.Val253Leu)
c.751G>C (p.Val251Leu)
11g.128839544C>TCA383244284KCNJ1c.700G>A (p.Val234Ile)
c.757G>A (p.Val253Ile)
c.751G>A (p.Val251Ile)
11g.128839545T>ACA477703127KCNJ1c.699A>T (p.Val233=)
c.756A>T (p.Val252=)
c.750A>T (p.Val250=)
11g.128839545T>CCA477703128KCNJ1c.699A>G (p.Val233=)
c.756A>G (p.Val252=)
c.750A>G (p.Val250=)
 COSMIC
11g.128839545T>GCA477703129KCNJ1c.699A>C (p.Val233=)
c.756A>C (p.Val252=)
c.750A>C (p.Val250=)
11g.128839546A>CCA383244288KCNJ1c.698T>G (p.Val233Gly)
c.755T>G (p.Val252Gly)
c.749T>G (p.Val250Gly)
11g.128839546A>GCA383244289KCNJ1c.698T>C (p.Val233Ala)
c.755T>C (p.Val252Ala)
c.749T>C (p.Val250Ala)
11g.128839546A>TCA383244290KCNJ1c.698T>A (p.Val233Glu)
c.755T>A (p.Val252Glu)
c.749T>A (p.Val250Glu)
11g.128839547C>ACA383244293KCNJ1c.697G>T (p.Val233Leu)
c.754G>T (p.Val252Leu)
c.748G>T (p.Val250Leu)
11g.128839547C>GCA383244295KCNJ1c.697G>C (p.Val233Leu)
c.754G>C (p.Val252Leu)
c.748G>C (p.Val250Leu)
11g.128839547C>TCA383244296KCNJ1c.697G>A (p.Val233Ile)
c.754G>A (p.Val252Ile)
c.748G>A (p.Val250Ile)
 gnomAD v4
11g.128839548A>CCA383244299KCNJ1c.696T>G (p.Phe232Leu)
c.753T>G (p.Phe251Leu)
c.747T>G (p.Phe249Leu)
11g.128839548A>GCA477703135KCNJ1c.696T>C (p.Phe232=)
c.753T>C (p.Phe251=)
c.747T>C (p.Phe249=)
11g.128839548A>TCA383244301KCNJ1c.696T>A (p.Phe232Leu)
c.753T>A (p.Phe251Leu)
c.747T>A (p.Phe249Leu)
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)

Number of alleles fetched