Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
11g.128839650C>ACA383244692KCNJ1c.594G>T (p.Arg198Ser)
c.651G>T (p.Arg217Ser)
c.645G>T (p.Arg215Ser)
11g.128839650C=CA2008250720KCNJ1c.594G= (p.Arg198=)
c.651G= (p.Arg217=)
c.645G= (p.Arg215=)
11g.128839650C>GCA383244693KCNJ1c.594G>C (p.Arg198Ser)
c.651G>C (p.Arg217Ser)
c.645G>C (p.Arg215Ser)
11g.128839650C>TCA477703260KCNJ1c.594G>A (p.Arg198=)
c.651G>A (p.Arg217=)
c.645G>A (p.Arg215=)
 dbSNP gnomAD v2 gnomAD v4
11g.128839651C>ACA383244694KCNJ1c.593G>T (p.Arg198Met)
c.650G>T (p.Arg217Met)
c.644G>T (p.Arg215Met)
11g.128839651C=CA2008250726KCNJ1c.593G= (p.Arg198=)
c.650G= (p.Arg217=)
c.644G= (p.Arg215=)
11g.128839651C>GCA383244695KCNJ1c.593G>C (p.Arg198Thr)
c.650G>C (p.Arg217Thr)
c.644G>C (p.Arg215Thr)
11g.128839651C>TCA383244696KCNJ1c.593G>A (p.Arg198Lys)
c.650G>A (p.Arg217Lys)
c.644G>A (p.Arg215Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839652T>ACA383244697KCNJ1c.592A>T (p.Arg198Trp)
c.649A>T (p.Arg217Trp)
c.643A>T (p.Arg215Trp)
11g.128839652T>CCA383244698KCNJ1c.592A>G (p.Arg198Gly)
c.649A>G (p.Arg217Gly)
c.643A>G (p.Arg215Gly)
11g.128839652T>GCA477703261KCNJ1c.592A>C (p.Arg198=)
c.649A>C (p.Arg217=)
c.643A>C (p.Arg215=)
11g.128839653G>ACA477703262KCNJ1c.591C>T (p.Leu197=)
c.648C>T (p.Leu216=)
c.642C>T (p.Leu214=)
 dbSNP gnomAD v2
11g.128839653G>CCA477703263KCNJ1c.591C>G (p.Leu197=)
c.648C>G (p.Leu216=)
c.642C>G (p.Leu214=)
 dbSNP COSMIC
11g.128839653G=CA2008250734KCNJ1c.591C= (p.Leu197=)
c.648C= (p.Leu216=)
c.642C= (p.Leu214=)
11g.128839653G>TCA477703264KCNJ1c.591C>A (p.Leu197=)
c.648C>A (p.Leu216=)
c.642C>A (p.Leu214=)
11g.128839654A>CCA383244699KCNJ1c.590T>G (p.Leu197Arg)
c.647T>G (p.Leu216Arg)
c.641T>G (p.Leu214Arg)
11g.128839654A>GCA383244700KCNJ1c.590T>C (p.Leu197Pro)
c.647T>C (p.Leu216Pro)
c.641T>C (p.Leu214Pro)
11g.128839654A>TCA383244701KCNJ1c.590T>A (p.Leu197His)
c.647T>A (p.Leu216His)
c.641T>A (p.Leu214His)
11g.128839655G>ACA383244702KCNJ1c.589C>T (p.Leu197Phe)
c.646C>T (p.Leu216Phe)
c.640C>T (p.Leu214Phe)
11g.128839655G>CCA383244704KCNJ1c.589C>G (p.Leu197Val)
c.646C>G (p.Leu216Val)
c.640C>G (p.Leu214Val)
11g.128839655G>TCA383244703KCNJ1c.589C>A (p.Leu197Ile)
c.646C>A (p.Leu216Ile)
c.640C>A (p.Leu214Ile)
11g.128839656A>CCA383244705KCNJ1c.588T>G (p.Asn196Lys)
c.645T>G (p.Asn215Lys)
c.639T>G (p.Asn213Lys)
11g.128839656A>GCA477703265KCNJ1c.588T>C (p.Asn196=)
c.645T>C (p.Asn215=)
c.639T>C (p.Asn213=)
11g.128839656A>TCA383244706KCNJ1c.588T>A (p.Asn196Lys)
c.645T>A (p.Asn215Lys)
c.639T>A (p.Asn213Lys)
11g.128839657T>ACA383244707KCNJ1c.587A>T (p.Asn196Ile)
c.644A>T (p.Asn215Ile)
c.638A>T (p.Asn213Ile)
11g.128839657T>CCA383244708KCNJ1c.587A>G (p.Asn196Ser)
c.644A>G (p.Asn215Ser)
c.638A>G (p.Asn213Ser)
 gnomAD v4
11g.128839657T>GCA383244709KCNJ1c.587A>C (p.Asn196Thr)
c.644A>C (p.Asn215Thr)
c.638A>C (p.Asn213Thr)
11g.128839658T>ACA383244710KCNJ1c.586A>T (p.Asn196Tyr)
c.643A>T (p.Asn215Tyr)
c.637A>T (p.Asn213Tyr)
11g.128839658T>CCA6357489KCNJ1c.586A>G (p.Asn196Asp)
c.643A>G (p.Asn215Asp)
c.637A>G (p.Asn213Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839658T>GCA383244711KCNJ1c.586A>C (p.Asn196His)
c.643A>C (p.Asn215His)
c.637A>C (p.Asn213His)
11g.128839658T=CA2008250741KCNJ1c.586A= (p.Asn196=)
c.643A= (p.Asn215=)
c.637A= (p.Asn213=)
11g.128839659A>CCA477703268KCNJ1c.585T>G (p.Ala195=)
c.642T>G (p.Ala214=)
c.636T>G (p.Ala212=)
11g.128839659A>GCA477703269KCNJ1c.585T>C (p.Ala195=)
c.642T>C (p.Ala214=)
c.636T>C (p.Ala212=)
11g.128839659A>TCA477703270KCNJ1c.585T>A (p.Ala195=)
c.642T>A (p.Ala214=)
c.636T>A (p.Ala212=)
11g.128839660G>ACA120154KCNJ1c.584C>T (p.Ala195Val)
c.641C>T (p.Ala214Val)
c.635C>T (p.Ala212Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839660G>CCA6357490KCNJ1c.584C>G (p.Ala195Gly)
c.641C>G (p.Ala214Gly)
c.635C>G (p.Ala212Gly)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.128839660G=CA2008250746KCNJ1c.584C= (p.Ala195=)
c.641C= (p.Ala214=)
c.635C= (p.Ala212=)
11g.128839660G>TCA383244712KCNJ1c.584C>A (p.Ala195Asp)
c.641C>A (p.Ala214Asp)
c.635C>A (p.Ala212Asp)
11g.128839661C>ACA383244713KCNJ1c.583G>T (p.Ala195Ser)
c.640G>T (p.Ala214Ser)
c.634G>T (p.Ala212Ser)
11g.128839661C=CA2008250759KCNJ1c.583G= (p.Ala195=)
c.640G= (p.Ala214=)
c.634G= (p.Ala212=)
11g.128839661C>GCA383244714KCNJ1c.583G>C (p.Ala195Pro)
c.640G>C (p.Ala214Pro)
c.634G>C (p.Ala212Pro)
11g.128839661C>TCA383244715KCNJ1c.583G>A (p.Ala195Thr)
c.640G>A (p.Ala214Thr)
c.634G>A (p.Ala212Thr)
 dbSNP gnomAD v2
11g.128839662C>ACA477703273KCNJ1c.582G>T (p.Val194=)
c.639G>T (p.Val213=)
c.633G>T (p.Val211=)
11g.128839662C>GCA477703274KCNJ1c.582G>C (p.Val194=)
c.639G>C (p.Val213=)
c.633G>C (p.Val211=)
11g.128839662C>TCA477703275KCNJ1c.582G>A (p.Val194=)
c.639G>A (p.Val213=)
c.633G>A (p.Val211=)
11g.128839663A=CA2008250764KCNJ1c.581T= (p.Val194=)
c.638T= (p.Val213=)
c.632T= (p.Val211=)
11g.128839663A>CCA230628450KCNJ1c.581T>G (p.Val194Gly)
c.638T>G (p.Val213Gly)
c.632T>G (p.Val211Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839663A>GCA383244716KCNJ1c.581T>C (p.Val194Ala)
c.638T>C (p.Val213Ala)
c.632T>C (p.Val211Ala)
 gnomAD v4
11g.128839663A>TCA383244717KCNJ1c.581T>A (p.Val194Glu)
c.638T>A (p.Val213Glu)
c.632T>A (p.Val211Glu)
11g.128839664C>ACA383244718KCNJ1c.580G>T (p.Val194Leu)
c.637G>T (p.Val213Leu)
c.631G>T (p.Val211Leu)
11g.128839664C=CA2008250775KCNJ1c.580G= (p.Val194=)
c.637G= (p.Val213=)
c.631G= (p.Val211=)
11g.128839664C>GCA383244719KCNJ1c.580G>C (p.Val194Leu)
c.637G>C (p.Val213Leu)
c.631G>C (p.Val211Leu)
11g.128839664C>TCA6357491KCNJ1c.580G>A (p.Val194Met)
c.637G>A (p.Val213Met)
c.631G>A (p.Val211Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839665T>ACA477703279KCNJ1c.579A>T (p.Arg193=)
c.636A>T (p.Arg212=)
c.630A>T (p.Arg210=)
11g.128839665T>CCA477703276KCNJ1c.579A>G (p.Arg193=)
c.636A>G (p.Arg212=)
c.630A>G (p.Arg210=)
11g.128839665T>GCA477703277KCNJ1c.579A>C (p.Arg193=)
c.636A>C (p.Arg212=)
c.630A>C (p.Arg210=)
11g.128839666C>ACA383244720KCNJ1c.578G>T (p.Arg193Leu)
c.635G>T (p.Arg212Leu)
c.629G>T (p.Arg210Leu)
11g.128839666C=CA2008250784KCNJ1c.578G= (p.Arg193=)
c.635G= (p.Arg212=)
c.629G= (p.Arg210=)
11g.128839666C>GCA230628472KCNJ1c.578G>C (p.Arg193Pro)
c.635G>C (p.Arg212Pro)
c.629G>C (p.Arg210Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839666C>TCA6357492KCNJ1c.578G>A (p.Arg193Gln)
c.635G>A (p.Arg212Gln)
c.629G>A (p.Arg210Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839667G>ACA6357493KCNJ1c.577C>T (p.Arg193Ter)
c.634C>T (p.Arg212Ter)
c.628C>T (p.Arg210Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839667G>CCA383244721KCNJ1c.577C>G (p.Arg193Gly)
c.634C>G (p.Arg212Gly)
c.628C>G (p.Arg210Gly)
11g.128839667G=CA2008250792KCNJ1c.577C= (p.Arg193=)
c.634C= (p.Arg212=)
c.628C= (p.Arg210=)
11g.128839667G>TCA477703280KCNJ1c.577C>A (p.Arg193=)
c.634C>A (p.Arg212=)
c.628C>A (p.Arg210=)
11g.128839668G>ACA477703281KCNJ1c.576C>T (p.Ile192=)
c.633C>T (p.Ile211=)
c.627C>T (p.Ile209=)
 COSMIC
11g.128839668G>CCA383244722KCNJ1c.576C>G (p.Ile192Met)
c.633C>G (p.Ile211Met)
c.627C>G (p.Ile209Met)
11g.128839668G>TCA477703282KCNJ1c.576C>A (p.Ile192=)
c.633C>A (p.Ile211=)
c.627C>A (p.Ile209=)
11g.128839669A>CCA383244723KCNJ1c.575T>G (p.Ile192Ser)
c.632T>G (p.Ile211Ser)
c.626T>G (p.Ile209Ser)
 ClinVar gnomAD v4
11g.128839669A>GCA383244724KCNJ1c.575T>C (p.Ile192Thr)
c.632T>C (p.Ile211Thr)
c.626T>C (p.Ile209Thr)
11g.128839669A>TCA383244725KCNJ1c.575T>A (p.Ile192Asn)
c.632T>A (p.Ile211Asn)
c.626T>A (p.Ile209Asn)
11g.128839670T>ACA383244728KCNJ1c.574A>T (p.Ile192Phe)
c.631A>T (p.Ile211Phe)
c.625A>T (p.Ile209Phe)
11g.128839670T>CCA383244726KCNJ1c.574A>G (p.Ile192Val)
c.631A>G (p.Ile211Val)
c.625A>G (p.Ile209Val)
11g.128839670T>GCA383244727KCNJ1c.574A>C (p.Ile192Leu)
c.631A>C (p.Ile211Leu)
c.625A>C (p.Ile209Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839670T=CA2008250798KCNJ1c.574A= (p.Ile192=)
c.631A= (p.Ile211=)
c.625A= (p.Ile209=)
11g.128839671T>ACA477703285KCNJ1c.573A>T (p.Leu191=)
c.630A>T (p.Leu210=)
c.624A>T (p.Leu208=)
11g.128839671T>CCA477703286KCNJ1c.573A>G (p.Leu191=)
c.630A>G (p.Leu210=)
c.624A>G (p.Leu208=)
11g.128839671T>GCA477703287KCNJ1c.573A>C (p.Leu191=)
c.630A>C (p.Leu210=)
c.624A>C (p.Leu208=)
11g.128839672A>CCA383244729KCNJ1c.572T>G (p.Leu191Arg)
c.629T>G (p.Leu210Arg)
c.623T>G (p.Leu208Arg)
11g.128839672A>GCA383244730KCNJ1c.572T>C (p.Leu191Pro)
c.629T>C (p.Leu210Pro)
c.623T>C (p.Leu208Pro)
11g.128839672A>TCA383244731KCNJ1c.572T>A (p.Leu191Gln)
c.629T>A (p.Leu210Gln)
c.623T>A (p.Leu208Gln)
11g.128839673G>ACA477703288KCNJ1c.571C>T (p.Leu191=)
c.628C>T (p.Leu210=)
c.622C>T (p.Leu208=)
 COSMIC
11g.128839673G>CCA383244732KCNJ1c.571C>G (p.Leu191Val)
c.628C>G (p.Leu210Val)
c.622C>G (p.Leu208Val)
11g.128839673G>TCA383244733KCNJ1c.571C>A (p.Leu191Ile)
c.628C>A (p.Leu210Ile)
c.622C>A (p.Leu208Ile)
11g.128839674G>ACA477703289KCNJ1c.570C>T (p.Leu190=)
c.627C>T (p.Leu209=)
c.621C>T (p.Leu207=)
 gnomAD v4
11g.128839674G>CCA477703290KCNJ1c.570C>G (p.Leu190=)
c.627C>G (p.Leu209=)
c.621C>G (p.Leu207=)
 dbSNP
11g.128839674G=CA2008250803KCNJ1c.570C= (p.Leu190=)
c.627C= (p.Leu209=)
c.621C= (p.Leu207=)
11g.128839674G>TCA477703291KCNJ1c.570C>A (p.Leu190=)
c.627C>A (p.Leu209=)
c.621C>A (p.Leu207=)
11g.128839675A>CCA383244734KCNJ1c.569T>G (p.Leu190Arg)
c.626T>G (p.Leu209Arg)
c.620T>G (p.Leu207Arg)
11g.128839675A>GCA383244736KCNJ1c.569T>C (p.Leu190Pro)
c.626T>C (p.Leu209Pro)
c.620T>C (p.Leu207Pro)
11g.128839675A>TCA383244735KCNJ1c.569T>A (p.Leu190His)
c.626T>A (p.Leu209His)
c.620T>A (p.Leu207His)
11g.128839676G>ACA6357494KCNJ1c.568C>T (p.Leu190Phe)
c.625C>T (p.Leu209Phe)
c.619C>T (p.Leu207Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839676G>CCA383244737KCNJ1c.568C>G (p.Leu190Val)
c.625C>G (p.Leu209Val)
c.619C>G (p.Leu207Val)
11g.128839676G=CA2008250818KCNJ1c.568C= (p.Leu190=)
c.625C= (p.Leu209=)
c.619C= (p.Leu207=)
11g.128839676G>TCA383244738KCNJ1c.568C>A (p.Leu190Ile)
c.625C>A (p.Leu209Ile)
c.619C>A (p.Leu207Ile)
 COSMIC
11g.128839677G>ACA477703294KCNJ1c.567C>T (p.Cys189=)
c.624C>T (p.Cys208=)
c.618C>T (p.Cys206=)
 dbSNP gnomAD v4
11g.128839677G>CCA383244739KCNJ1c.567C>G (p.Cys189Trp)
c.624C>G (p.Cys208Trp)
c.618C>G (p.Cys206Trp)
11g.128839677G=CA2008250824KCNJ1c.567C= (p.Cys189=)
c.624C= (p.Cys208=)
c.618C= (p.Cys206=)
11g.128839677G>TCA383244740KCNJ1c.567C>A (p.Cys189Ter)
c.624C>A (p.Cys208Ter)
c.618C>A (p.Cys206Ter)
11g.128839678C>ACA383244741KCNJ1c.566G>T (p.Cys189Phe)
c.623G>T (p.Cys208Phe)
c.617G>T (p.Cys206Phe)
11g.128839678C=CA2008250831KCNJ1c.566G= (p.Cys189=)
c.623G= (p.Cys208=)
c.617G= (p.Cys206=)
11g.128839678C>GCA383244742KCNJ1c.566G>C (p.Cys189Ser)
c.623G>C (p.Cys208Ser)
c.617G>C (p.Cys206Ser)
 dbSNP gnomAD v2
11g.128839678C>TCA383244743KCNJ1c.566G>A (p.Cys189Tyr)
c.623G>A (p.Cys208Tyr)
c.617G>A (p.Cys206Tyr)
11g.128839679A>CCA383244744KCNJ1c.565T>G (p.Cys189Gly)
c.622T>G (p.Cys208Gly)
c.616T>G (p.Cys206Gly)
11g.128839679A>GCA383244745KCNJ1c.565T>C (p.Cys189Arg)
c.622T>C (p.Cys208Arg)
c.616T>C (p.Cys206Arg)
11g.128839679A>TCA383244746KCNJ1c.565T>A (p.Cys189Ser)
c.622T>A (p.Cys208Ser)
c.616T>A (p.Cys206Ser)
11g.128839680A>CCA477703295KCNJ1c.564T>G (p.Leu188=)
c.621T>G (p.Leu207=)
c.615T>G (p.Leu205=)
 gnomAD v4
11g.128839680A>GCA477703296KCNJ1c.564T>C (p.Leu188=)
c.621T>C (p.Leu207=)
c.615T>C (p.Leu205=)
11g.128839680A>TCA477703297KCNJ1c.564T>A (p.Leu188=)
c.621T>A (p.Leu207=)
c.615T>A (p.Leu205=)
11g.128839681A>CCA383244747KCNJ1c.563T>G (p.Leu188Arg)
c.620T>G (p.Leu207Arg)
c.614T>G (p.Leu205Arg)
11g.128839681A>GCA383244749KCNJ1c.563T>C (p.Leu188Pro)
c.620T>C (p.Leu207Pro)
c.614T>C (p.Leu205Pro)
11g.128839681A>TCA383244748KCNJ1c.563T>A (p.Leu188His)
c.620T>A (p.Leu207His)
c.614T>A (p.Leu205His)
11g.128839682G>ACA383244750KCNJ1c.562C>T (p.Leu188Phe)
c.619C>T (p.Leu207Phe)
c.613C>T (p.Leu205Phe)
 dbSNP gnomAD v4
11g.128839682G>CCA383244752KCNJ1c.562C>G (p.Leu188Val)
c.619C>G (p.Leu207Val)
c.613C>G (p.Leu205Val)
11g.128839682G=CA2008250835KCNJ1c.562C= (p.Leu188=)
c.619C= (p.Leu207=)
c.613C= (p.Leu205=)
11g.128839682G>TCA383244751KCNJ1c.562C>A (p.Leu188Ile)
c.619C>A (p.Leu207Ile)
c.613C>A (p.Leu205Ile)
 dbSNP
11g.128839683C>ACA6357496KCNJ1c.561G>T (p.Lys187Asn)
c.618G>T (p.Lys206Asn)
c.612G>T (p.Lys204Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839683C=CA2008250843KCNJ1c.561G= (p.Lys187=)
c.618G= (p.Lys206=)
c.612G= (p.Lys204=)
11g.128839683C>GCA383244753KCNJ1c.561G>C (p.Lys187Asn)
c.618G>C (p.Lys206Asn)
c.612G>C (p.Lys204Asn)
11g.128839683C>TCA6357495KCNJ1c.561G>A (p.Lys187=)
c.618G>A (p.Lys206=)
c.612G>A (p.Lys204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839684T>ACA383244754KCNJ1c.560A>T (p.Lys187Met)
c.617A>T (p.Lys206Met)
c.611A>T (p.Lys204Met)
11g.128839684T>CCA383244755KCNJ1c.560A>G (p.Lys187Arg)
c.617A>G (p.Lys206Arg)
c.611A>G (p.Lys204Arg)
11g.128839684T>GCA383244756KCNJ1c.560A>C (p.Lys187Thr)
c.617A>C (p.Lys206Thr)
c.611A>C (p.Lys204Thr)
11g.128839685T>ACA383244757KCNJ1c.559A>T (p.Lys187Ter)
c.616A>T (p.Lys206Ter)
c.610A>T (p.Lys204Ter)
11g.128839685T>CCA383244758KCNJ1c.559A>G (p.Lys187Glu)
c.616A>G (p.Lys206Glu)
c.610A>G (p.Lys204Glu)
11g.128839685T>GCA383244759KCNJ1c.559A>C (p.Lys187Gln)
c.616A>C (p.Lys206Gln)
c.610A>C (p.Lys204Gln)
11g.128839686C>ACA477703301KCNJ1c.558G>T (p.Gly186=)
c.615G>T (p.Gly205=)
c.609G>T (p.Gly203=)
11g.128839686C>GCA477703299KCNJ1c.558G>C (p.Gly186=)
c.615G>C (p.Gly205=)
c.609G>C (p.Gly203=)
11g.128839686C>TCA477703300KCNJ1c.558G>A (p.Gly186=)
c.615G>A (p.Gly205=)
c.609G>A (p.Gly203=)
11g.128839686_128839687insTGAAGACCACAGTCA2539254176KCNJ1c.557_558insACTGTGGTCTTCA (p.Lys187LeufsTer14)
c.614_615insACTGTGGTCTTCA (p.Lys206LeufsTer14)
c.608_609insACTGTGGTCTTCA (p.Lys204LeufsTer14)
11g.128839687C>ACA383244760KCNJ1c.557G>T (p.Gly186Val)
c.614G>T (p.Gly205Val)
c.608G>T (p.Gly203Val)
 gnomAD v4
11g.128839687C>GCA383244761KCNJ1c.557G>C (p.Gly186Ala)
c.614G>C (p.Gly205Ala)
c.608G>C (p.Gly203Ala)
11g.128839687C>TCA383244762KCNJ1c.557G>A (p.Gly186Glu)
c.614G>A (p.Gly205Glu)
c.608G>A (p.Gly203Glu)
11g.128839688C>ACA383244765KCNJ1c.556G>T (p.Gly186Trp)
c.613G>T (p.Gly205Trp)
c.607G>T (p.Gly203Trp)
 dbSNP
11g.128839688C=CA2008250844KCNJ1c.556G= (p.Gly186=)
c.613G= (p.Gly205=)
c.607G= (p.Gly203=)
11g.128839688C>GCA383244763KCNJ1c.556G>C (p.Gly186Arg)
c.613G>C (p.Gly205Arg)
c.607G>C (p.Gly203Arg)
11g.128839688C>TCA383244764KCNJ1c.556G>A (p.Gly186Arg)
c.613G>A (p.Gly205Arg)
c.607G>A (p.Gly203Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.128839689T>ACA477703302KCNJ1c.555A>T (p.Gly185=)
c.612A>T (p.Gly204=)
c.606A>T (p.Gly202=)
 dbSNP
11g.128839689T>CCA477703303KCNJ1c.555A>G (p.Gly185=)
c.612A>G (p.Gly204=)
c.606A>G (p.Gly202=)
11g.128839689T>GCA477703304KCNJ1c.555A>C (p.Gly185=)
c.612A>C (p.Gly204=)
c.606A>C (p.Gly202=)
11g.128839690C>ACA383244766KCNJ1c.554G>T (p.Gly185Val)
c.611G>T (p.Gly204Val)
c.605G>T (p.Gly202Val)
 dbSNP
11g.128839690C=CA2008250849KCNJ1c.554G= (p.Gly185=)
c.611G= (p.Gly204=)
c.605G= (p.Gly202=)
11g.128839690C>GCA383244767KCNJ1c.554G>C (p.Gly185Ala)
c.611G>C (p.Gly204Ala)
c.605G>C (p.Gly202Ala)
11g.128839690C>TCA383244768KCNJ1c.554G>A (p.Gly185Glu)
c.611G>A (p.Gly204Glu)
c.605G>A (p.Gly202Glu)
 gnomAD v4
11g.128839691C>ACA383244769KCNJ1c.553G>T (p.Gly185Ter)
c.610G>T (p.Gly204Ter)
c.604G>T (p.Gly202Ter)
 gnomAD v4
11g.128839691C>GCA383244770KCNJ1c.553G>C (p.Gly185Arg)
c.610G>C (p.Gly204Arg)
c.604G>C (p.Gly202Arg)
11g.128839691C>TCA383244771KCNJ1c.553G>A (p.Gly185Arg)
c.610G>A (p.Gly204Arg)
c.604G>A (p.Gly202Arg)
11g.128839692C>ACA230628505KCNJ1c.552G>T (p.Arg184=)
c.609G>T (p.Arg203=)
c.603G>T (p.Arg201=)
 dbSNP
11g.128839692C=CA2008250852KCNJ1c.552G= (p.Arg184=)
c.609G= (p.Arg203=)
c.603G= (p.Arg201=)
11g.128839692C>GCA477703305KCNJ1c.552G>C (p.Arg184=)
c.609G>C (p.Arg203=)
c.603G>C (p.Arg201=)
11g.128839692C>TCA477703306KCNJ1c.552G>A (p.Arg184=)
c.609G>A (p.Arg203=)
c.603G>A (p.Arg201=)
11g.128839693C>ACA383244772KCNJ1c.551G>T (p.Arg184Leu)
c.608G>T (p.Arg203Leu)
c.602G>T (p.Arg201Leu)
11g.128839693C=CA2008250861KCNJ1c.551G= (p.Arg184=)
c.608G= (p.Arg203=)
c.602G= (p.Arg201=)
11g.128839693C>GCA383244773KCNJ1c.551G>C (p.Arg184Pro)
c.608G>C (p.Arg203Pro)
c.602G>C (p.Arg201Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.128839693C>TCA383244774KCNJ1c.551G>A (p.Arg184Gln)
c.608G>A (p.Arg203Gln)
c.602G>A (p.Arg201Gln)
 ClinVar dbSNP gnomAD v4
11g.128839693_128839694delinsCGCA2008250860KCNJ1c.550_551delinsCG (p.Arg184=)
c.607_608delinsCG (p.Arg203=)
c.601_602delinsCG (p.Arg201=)
11g.128839694delCA2008250866KCNJ1c.550del (p.Arg184GlyfsTer8)
c.607del (p.Arg203GlyfsTer8)
c.601del (p.Arg201GlyfsTer8)
 dbSNP gnomAD v4
11g.128839694G>ACA6357497KCNJ1c.550C>T (p.Arg184Trp)
c.607C>T (p.Arg203Trp)
c.601C>T (p.Arg201Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839694G>CCA230628508KCNJ1c.550C>G (p.Arg184Gly)
c.607C>G (p.Arg203Gly)
c.601C>G (p.Arg201Gly)
 dbSNP
11g.128839694G=CA2008250867KCNJ1c.550C= (p.Arg184=)
c.607C= (p.Arg203=)
c.601C= (p.Arg201=)
11g.128839694G>TCA477703308KCNJ1c.550C>A (p.Arg184=)
c.607C>A (p.Arg203=)
c.601C>A (p.Arg201=)
11g.128839695T>ACA383244775KCNJ1c.549A>T (p.Lys183Asn)
c.606A>T (p.Lys202Asn)
c.600A>T (p.Lys200Asn)
11g.128839695T>CCA477703309KCNJ1c.549A>G (p.Lys183=)
c.606A>G (p.Lys202=)
c.600A>G (p.Lys200=)
 dbSNP gnomAD v2
11g.128839695T>GCA383244776KCNJ1c.549A>C (p.Lys183Asn)
c.606A>C (p.Lys202Asn)
c.600A>C (p.Lys200Asn)
11g.128839695T=CA2008250873KCNJ1c.549A= (p.Lys183=)
c.606A= (p.Lys202=)
c.600A= (p.Lys200=)
11g.128839696T>ACA383244777KCNJ1c.548A>T (p.Lys183Ile)
c.605A>T (p.Lys202Ile)
c.599A>T (p.Lys200Ile)
11g.128839696T>CCA383244778KCNJ1c.548A>G (p.Lys183Arg)
c.605A>G (p.Lys202Arg)
c.599A>G (p.Lys200Arg)
11g.128839696T>GCA383244779KCNJ1c.548A>C (p.Lys183Thr)
c.605A>C (p.Lys202Thr)
c.599A>C (p.Lys200Thr)
11g.128839697T>ACA383244780KCNJ1c.547A>T (p.Lys183Ter)
c.604A>T (p.Lys202Ter)
c.598A>T (p.Lys200Ter)
11g.128839697T>CCA6357498KCNJ1c.547A>G (p.Lys183Glu)
c.604A>G (p.Lys202Glu)
c.598A>G (p.Lys200Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839697T>GCA383244781KCNJ1c.547A>C (p.Lys183Gln)
c.604A>C (p.Lys202Gln)
c.598A>C (p.Lys200Gln)
11g.128839697T=CA2008250879KCNJ1c.547A= (p.Lys183=)
c.604A= (p.Lys202=)
c.598A= (p.Lys200=)
11g.128839698G>ACA477703311KCNJ1c.546C>T (p.Ser182=)
c.603C>T (p.Ser201=)
c.597C>T (p.Ser199=)
11g.128839698G>CCA383244782KCNJ1c.546C>G (p.Ser182Arg)
c.603C>G (p.Ser201Arg)
c.597C>G (p.Ser199Arg)
11g.128839698G>TCA383244783KCNJ1c.546C>A (p.Ser182Arg)
c.603C>A (p.Ser201Arg)
c.597C>A (p.Ser199Arg)
11g.128839699C>ACA383244784KCNJ1c.545G>T (p.Ser182Ile)
c.602G>T (p.Ser201Ile)
c.596G>T (p.Ser199Ile)
11g.128839699C>GCA383244785KCNJ1c.545G>C (p.Ser182Thr)
c.602G>C (p.Ser201Thr)
c.596G>C (p.Ser199Thr)
11g.128839699C>TCA383244786KCNJ1c.545G>A (p.Ser182Asn)
c.602G>A (p.Ser201Asn)
c.596G>A (p.Ser199Asn)
11g.128839700T>ACA383244787KCNJ1c.544A>T (p.Ser182Cys)
c.601A>T (p.Ser201Cys)
c.595A>T (p.Ser199Cys)
11g.128839700T>CCA383244788KCNJ1c.544A>G (p.Ser182Gly)
c.601A>G (p.Ser201Gly)
c.595A>G (p.Ser199Gly)
 gnomAD v4
11g.128839700T>GCA383244789KCNJ1c.544A>C (p.Ser182Arg)
c.601A>C (p.Ser201Arg)
c.595A>C (p.Ser199Arg)
11g.128839701G>ACA477703312KCNJ1c.543C>T (p.Ile181=)
c.600C>T (p.Ile200=)
c.594C>T (p.Ile198=)
11g.128839701G>CCA383244790KCNJ1c.543C>G (p.Ile181Met)
c.600C>G (p.Ile200Met)
c.594C>G (p.Ile198Met)
11g.128839701G>TCA477703313KCNJ1c.543C>A (p.Ile181=)
c.600C>A (p.Ile200=)
c.594C>A (p.Ile198=)
11g.128839702A>CCA383244791KCNJ1c.542T>G (p.Ile181Ser)
c.599T>G (p.Ile200Ser)
c.593T>G (p.Ile198Ser)
11g.128839702A>GCA383244792KCNJ1c.542T>C (p.Ile181Thr)
c.599T>C (p.Ile200Thr)
c.593T>C (p.Ile198Thr)
11g.128839702A>TCA383244793KCNJ1c.542T>A (p.Ile181Asn)
c.599T>A (p.Ile200Asn)
c.593T>A (p.Ile198Asn)
11g.128839703T>ACA383244794KCNJ1c.541A>T (p.Ile181Phe)
c.598A>T (p.Ile200Phe)
c.592A>T (p.Ile198Phe)
11g.128839703T>CCA383244795KCNJ1c.541A>G (p.Ile181Val)
c.598A>G (p.Ile200Val)
c.592A>G (p.Ile198Val)
 gnomAD v4
11g.128839703T>GCA383244796KCNJ1c.541A>C (p.Ile181Leu)
c.598A>C (p.Ile200Leu)
c.592A>C (p.Ile198Leu)
11g.128839704C>ACA477703314KCNJ1c.540G>T (p.Val180=)
c.597G>T (p.Val199=)
c.591G>T (p.Val197=)
11g.128839704C=CA2008250884KCNJ1c.540G= (p.Val180=)
c.597G= (p.Val199=)
c.591G= (p.Val197=)
11g.128839704C>GCA477703315KCNJ1c.540G>C (p.Val180=)
c.597G>C (p.Val199=)
c.591G>C (p.Val197=)
11g.128839704C>TCA477703316KCNJ1c.540G>A (p.Val180=)
c.597G>A (p.Val199=)
c.591G>A (p.Val197=)
 ClinVar dbSNP gnomAD v4
11g.128839705A>CCA383244797KCNJ1c.539T>G (p.Val180Gly)
c.596T>G (p.Val199Gly)
c.590T>G (p.Val197Gly)
 gnomAD v4
11g.128839705A>GCA383244798KCNJ1c.539T>C (p.Val180Ala)
c.596T>C (p.Val199Ala)
c.590T>C (p.Val197Ala)
 gnomAD v4
11g.128839705A>TCA383244799KCNJ1c.539T>A (p.Val180Glu)
c.596T>A (p.Val199Glu)
c.590T>A (p.Val197Glu)
11g.128839706C>ACA383244800KCNJ1c.538G>T (p.Val180Leu)
c.595G>T (p.Val199Leu)
c.589G>T (p.Val197Leu)
11g.128839706C>GCA383244801KCNJ1c.538G>C (p.Val180Leu)
c.595G>C (p.Val199Leu)
c.589G>C (p.Val197Leu)
11g.128839706C>TCA383244802KCNJ1c.538G>A (p.Val180Met)
c.595G>A (p.Val199Met)
c.589G>A (p.Val197Met)
11g.128839707T>ACA477703317KCNJ1c.537A>T (p.Ala179=)
c.594A>T (p.Ala198=)
c.588A>T (p.Ala196=)
11g.128839707T>CCA477703318KCNJ1c.537A>G (p.Ala179=)
c.594A>G (p.Ala198=)
c.588A>G (p.Ala196=)
11g.128839707T>GCA477703319KCNJ1c.537A>C (p.Ala179=)
c.594A>C (p.Ala198=)
c.588A>C (p.Ala196=)
 gnomAD v4 COSMIC
11g.128839708G>ACA383244803KCNJ1c.536C>T (p.Ala179Val)
c.593C>T (p.Ala198Val)
c.587C>T (p.Ala196Val)
 dbSNP gnomAD v2 gnomAD v4
11g.128839708G>CCA383244805KCNJ1c.536C>G (p.Ala179Gly)
c.593C>G (p.Ala198Gly)
c.587C>G (p.Ala196Gly)
11g.128839708G=CA2008250889KCNJ1c.536C= (p.Ala179=)
c.593C= (p.Ala198=)
c.587C= (p.Ala196=)
11g.128839708G>TCA383244804KCNJ1c.536C>A (p.Ala179Glu)
c.593C>A (p.Ala198Glu)
c.587C>A (p.Ala196Glu)
11g.128839709C>ACA230628532KCNJ1c.535G>T (p.Ala179Ser)
c.592G>T (p.Ala198Ser)
c.586G>T (p.Ala196Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128839709C=CA2008250894KCNJ1c.535G= (p.Ala179=)
c.592G= (p.Ala198=)
c.586G= (p.Ala196=)
11g.128839709C>GCA383244806KCNJ1c.535G>C (p.Ala179Pro)
c.592G>C (p.Ala198Pro)
c.586G>C (p.Ala196Pro)
11g.128839709C>TCA120158KCNJ1c.535G>A (p.Ala179Thr)
c.592G>A (p.Ala198Thr)
c.586G>A (p.Ala196Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.128839710G>ACA6357499KCNJ1c.534C>T (p.Asn178=)
c.591C>T (p.Asn197=)
c.585C>T (p.Asn195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839710G>CCA383244807KCNJ1c.534C>G (p.Asn178Lys)
c.591C>G (p.Asn197Lys)
c.585C>G (p.Asn195Lys)
11g.128839710G=CA2008250909KCNJ1c.534C= (p.Asn178=)
c.591C= (p.Asn197=)
c.585C= (p.Asn195=)
11g.128839710G>TCA6357500KCNJ1c.534C>A (p.Asn178Lys)
c.591C>A (p.Asn197Lys)
c.585C>A (p.Asn195Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839711T>ACA383244808KCNJ1c.533A>T (p.Asn178Ile)
c.590A>T (p.Asn197Ile)
c.584A>T (p.Asn195Ile)
11g.128839711T>CCA383244810KCNJ1c.533A>G (p.Asn178Ser)
c.590A>G (p.Asn197Ser)
c.584A>G (p.Asn195Ser)
11g.128839711T>GCA383244809KCNJ1c.533A>C (p.Asn178Thr)
c.590A>C (p.Asn197Thr)
c.584A>C (p.Asn195Thr)
11g.128839712T>ACA383244811KCNJ1c.532A>T (p.Asn178Tyr)
c.589A>T (p.Asn197Tyr)
c.583A>T (p.Asn195Tyr)
11g.128839712T>CCA6357501KCNJ1c.532A>G (p.Asn178Asp)
c.589A>G (p.Asn197Asp)
c.583A>G (p.Asn195Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839712T>GCA383244812KCNJ1c.532A>C (p.Asn178His)
c.589A>C (p.Asn197His)
c.583A>C (p.Asn195His)
11g.128839712T=CA2008250916KCNJ1c.532A= (p.Asn178=)
c.589A= (p.Asn197=)
c.583A= (p.Asn195=)
11g.128839713C>ACA383244813KCNJ1c.531G>T (p.Lys177Asn)
c.588G>T (p.Lys196Asn)
c.582G>T (p.Lys194Asn)
11g.128839713C=CA2008250919KCNJ1c.531G= (p.Lys177=)
c.588G= (p.Lys196=)
c.582G= (p.Lys194=)
11g.128839713C>GCA383244814KCNJ1c.531G>C (p.Lys177Asn)
c.588G>C (p.Lys196Asn)
c.582G>C (p.Lys194Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.128839713C>TCA477703323KCNJ1c.531G>A (p.Lys177=)
c.588G>A (p.Lys196=)
c.582G>A (p.Lys194=)
11g.128839714T>ACA383244815KCNJ1c.530A>T (p.Lys177Met)
c.587A>T (p.Lys196Met)
c.581A>T (p.Lys194Met)
11g.128839714T>CCA383244816KCNJ1c.530A>G (p.Lys177Arg)
c.587A>G (p.Lys196Arg)
c.581A>G (p.Lys194Arg)
 gnomAD v4
11g.128839714T>GCA383244817KCNJ1c.530A>C (p.Lys177Thr)
c.587A>C (p.Lys196Thr)
c.581A>C (p.Lys194Thr)
11g.128839715T>ACA383244818KCNJ1c.529A>T (p.Lys177Ter)
c.586A>T (p.Lys196Ter)
c.580A>T (p.Lys194Ter)
11g.128839715T>CCA383244819KCNJ1c.529A>G (p.Lys177Glu)
c.586A>G (p.Lys196Glu)
c.580A>G (p.Lys194Glu)
11g.128839715T>GCA383244820KCNJ1c.529A>C (p.Lys177Gln)
c.586A>C (p.Lys196Gln)
c.580A>C (p.Lys194Gln)
11g.128839716G>ACA477703324KCNJ1c.528C>T (p.Ser176=)
c.585C>T (p.Ser195=)
c.579C>T (p.Ser193=)
11g.128839716G>CCA383244821KCNJ1c.528C>G (p.Ser176Arg)
c.585C>G (p.Ser195Arg)
c.579C>G (p.Ser193Arg)
11g.128839716G>TCA383244822KCNJ1c.528C>A (p.Ser176Arg)
c.585C>A (p.Ser195Arg)
c.579C>A (p.Ser193Arg)
11g.128839717C>ACA383244825KCNJ1c.527G>T (p.Ser176Ile)
c.584G>T (p.Ser195Ile)
c.578G>T (p.Ser193Ile)
11g.128839717C>GCA383244824KCNJ1c.527G>C (p.Ser176Thr)
c.584G>C (p.Ser195Thr)
c.578G>C (p.Ser193Thr)
11g.128839717C>TCA383244823KCNJ1c.527G>A (p.Ser176Asn)
c.584G>A (p.Ser195Asn)
c.578G>A (p.Ser193Asn)
11g.128839717_128839718delinsCTCA2008250921KCNJ1c.526_527delinsAG (p.Ser176=)
c.583_584delinsAG (p.Ser195=)
c.577_578delinsAG (p.Ser193=)
11g.128839718delCA943454851KCNJ1c.526del (p.Ser176AlafsTer5)
c.583del (p.Ser195AlafsTer5)
c.577del (p.Ser193AlafsTer5)
 dbSNP gnomAD v3 gnomAD v4
11g.128839718T>ACA383244826KCNJ1c.526A>T (p.Ser176Cys)
c.583A>T (p.Ser195Cys)
c.577A>T (p.Ser193Cys)
11g.128839718T>CCA383244827KCNJ1c.526A>G (p.Ser176Gly)
c.583A>G (p.Ser195Gly)
c.577A>G (p.Ser193Gly)
11g.128839718T>GCA383244828KCNJ1c.526A>C (p.Ser176Arg)
c.583A>C (p.Ser195Arg)
c.577A>C (p.Ser193Arg)
 gnomAD v4
11g.128839719G>ACA477703328KCNJ1c.525C>T (p.Phe175=)
c.582C>T (p.Phe194=)
c.576C>T (p.Phe192=)
11g.128839719G>CCA383244829KCNJ1c.525C>G (p.Phe175Leu)
c.582C>G (p.Phe194Leu)
c.576C>G (p.Phe192Leu)
11g.128839719G>TCA383244830KCNJ1c.525C>A (p.Phe175Leu)
c.582C>A (p.Phe194Leu)
c.576C>A (p.Phe192Leu)
11g.128839720A=CA2008250928KCNJ1c.524T= (p.Phe175=)
c.581T= (p.Phe194=)
c.575T= (p.Phe192=)
11g.128839720A>CCA383244831KCNJ1c.524T>G (p.Phe175Cys)
c.581T>G (p.Phe194Cys)
c.575T>G (p.Phe192Cys)
11g.128839720A>GCA383244832KCNJ1c.524T>C (p.Phe175Ser)
c.581T>C (p.Phe194Ser)
c.575T>C (p.Phe192Ser)
 dbSNP gnomAD v4
11g.128839720A>TCA383244833KCNJ1c.524T>A (p.Phe175Tyr)
c.581T>A (p.Phe194Tyr)
c.575T>A (p.Phe192Tyr)
11g.128839721A>CCA383244834KCNJ1c.523T>G (p.Phe175Val)
c.580T>G (p.Phe194Val)
c.574T>G (p.Phe192Val)
11g.128839721A>GCA383244835KCNJ1c.523T>C (p.Phe175Leu)
c.580T>C (p.Phe194Leu)
c.574T>C (p.Phe192Leu)
11g.128839721A>TCA383244836KCNJ1c.523T>A (p.Phe175Ile)
c.580T>A (p.Phe194Ile)
c.574T>A (p.Phe192Ile)
11g.128839722C>ACA477703331KCNJ1c.522G>T (p.Thr174=)
c.579G>T (p.Thr193=)
c.573G>T (p.Thr191=)
11g.128839722C=CA2008250939KCNJ1c.522G= (p.Thr174=)
c.579G= (p.Thr193=)
c.573G= (p.Thr191=)
11g.128839722C>GCA477703332KCNJ1c.522G>C (p.Thr174=)
c.579G>C (p.Thr193=)
c.573G>C (p.Thr191=)
 ClinVar gnomAD v3 gnomAD v4
11g.128839722C>TCA6357502KCNJ1c.522G>A (p.Thr174=)
c.579G>A (p.Thr193=)
c.573G>A (p.Thr191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839723G>ACA6357503KCNJ1c.521C>T (p.Thr174Met)
c.578C>T (p.Thr193Met)
c.572C>T (p.Thr191Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839723G>CCA383244837KCNJ1c.521C>G (p.Thr174Arg)
c.578C>G (p.Thr193Arg)
c.572C>G (p.Thr191Arg)
11g.128839723G=CA2008250951KCNJ1c.521C= (p.Thr174=)
c.578C= (p.Thr193=)
c.572C= (p.Thr191=)
11g.128839723G>TCA383244838KCNJ1c.521C>A (p.Thr174Lys)
c.578C>A (p.Thr193Lys)
c.572C>A (p.Thr191Lys)
 gnomAD v4
11g.128839724T>ACA383244839KCNJ1c.520A>T (p.Thr174Ser)
c.577A>T (p.Thr193Ser)
c.571A>T (p.Thr191Ser)
11g.128839724T>CCA383244840KCNJ1c.520A>G (p.Thr174Ala)
c.577A>G (p.Thr193Ala)
c.571A>G (p.Thr191Ala)
11g.128839724T>GCA383244841KCNJ1c.520A>C (p.Thr174Pro)
c.577A>C (p.Thr193Pro)
c.571A>C (p.Thr191Pro)
11g.128839725A>CCA383244842KCNJ1c.519T>G (p.Ile173Met)
c.576T>G (p.Ile192Met)
c.570T>G (p.Ile190Met)
 gnomAD v4
11g.128839725A>GCA477703334KCNJ1c.519T>C (p.Ile173=)
c.576T>C (p.Ile192=)
c.570T>C (p.Ile190=)
11g.128839725A>TCA477703336KCNJ1c.519T>A (p.Ile173=)
c.576T>A (p.Ile192=)
c.570T>A (p.Ile190=)
11g.128839726A>CCA383244843KCNJ1c.518T>G (p.Ile173Ser)
c.575T>G (p.Ile192Ser)
c.569T>G (p.Ile190Ser)
11g.128839726A>GCA383244844KCNJ1c.518T>C (p.Ile173Thr)
c.575T>C (p.Ile192Thr)
c.569T>C (p.Ile190Thr)
11g.128839726A>TCA383244845KCNJ1c.518T>A (p.Ile173Asn)
c.575T>A (p.Ile192Asn)
c.569T>A (p.Ile190Asn)
11g.128839727T>ACA383244846KCNJ1c.517A>T (p.Ile173Phe)
c.574A>T (p.Ile192Phe)
c.568A>T (p.Ile190Phe)
 COSMIC
11g.128839727T>CCA383244847KCNJ1c.517A>G (p.Ile173Val)
c.574A>G (p.Ile192Val)
c.568A>G (p.Ile190Val)
 gnomAD v4
11g.128839727T>GCA383244848KCNJ1c.517A>C (p.Ile173Leu)
c.574A>C (p.Ile192Leu)
c.568A>C (p.Ile190Leu)
11g.128839728G>ACA477703337KCNJ1c.516C>T (p.Thr172=)
c.573C>T (p.Thr191=)
c.567C>T (p.Thr189=)
 gnomAD v4 COSMIC
11g.128839728G>CCA477703338KCNJ1c.516C>G (p.Thr172=)
c.573C>G (p.Thr191=)
c.567C>G (p.Thr189=)
11g.128839728G>TCA477703339KCNJ1c.516C>A (p.Thr172=)
c.573C>A (p.Thr191=)
c.567C>A (p.Thr189=)
11g.128839729G>ACA383244851KCNJ1c.515C>T (p.Thr172Ile)
c.572C>T (p.Thr191Ile)
c.566C>T (p.Thr189Ile)
 gnomAD v4
11g.128839729G>CCA383244849KCNJ1c.515C>G (p.Thr172Ser)
c.572C>G (p.Thr191Ser)
c.566C>G (p.Thr189Ser)
11g.128839729G>TCA383244850KCNJ1c.515C>A (p.Thr172Asn)
c.572C>A (p.Thr191Asn)
c.566C>A (p.Thr189Asn)
11g.128839730T>ACA383244852KCNJ1c.514A>T (p.Thr172Ser)
c.571A>T (p.Thr191Ser)
c.565A>T (p.Thr189Ser)
11g.128839730T>CCA230628564KCNJ1c.514A>G (p.Thr172Ala)
c.571A>G (p.Thr191Ala)
c.565A>G (p.Thr189Ala)
 dbSNP gnomAD v4
11g.128839730T>GCA383244853KCNJ1c.514A>C (p.Thr172Pro)
c.571A>C (p.Thr191Pro)
c.565A>C (p.Thr189Pro)
 ClinVar
11g.128839730T=CA2008250959KCNJ1c.514A= (p.Thr172=)
c.571A= (p.Thr191=)
c.565A= (p.Thr189=)
11g.128839731C>ACA383244854KCNJ1c.513G>T (p.Lys171Asn)
c.570G>T (p.Lys190Asn)
c.564G>T (p.Lys188Asn)
 ClinVar
11g.128839731C>GCA383244855KCNJ1c.513G>C (p.Lys171Asn)
c.570G>C (p.Lys190Asn)
c.564G>C (p.Lys188Asn)
11g.128839731C>TCA477703343KCNJ1c.513G>A (p.Lys171=)
c.570G>A (p.Lys190=)
c.564G>A (p.Lys188=)
11g.128839732T>ACA383244856KCNJ1c.512A>T (p.Lys171Met)
c.569A>T (p.Lys190Met)
c.563A>T (p.Lys188Met)
11g.128839732T>CCA383244857KCNJ1c.512A>G (p.Lys171Arg)
c.569A>G (p.Lys190Arg)
c.563A>G (p.Lys188Arg)
11g.128839732T>GCA383244858KCNJ1c.512A>C (p.Lys171Thr)
c.569A>C (p.Lys190Thr)
c.563A>C (p.Lys188Thr)
11g.128839733T>ACA383244859KCNJ1c.511A>T (p.Lys171Ter)
c.568A>T (p.Lys190Ter)
c.562A>T (p.Lys188Ter)
 COSMIC
11g.128839733T>CCA383244860KCNJ1c.511A>G (p.Lys171Glu)
c.568A>G (p.Lys190Glu)
c.562A>G (p.Lys188Glu)
11g.128839733T>GCA383244861KCNJ1c.511A>C (p.Lys171Gln)
c.568A>C (p.Lys190Gln)
c.562A>C (p.Lys188Gln)
11g.128839734G>ACA477703344KCNJ1c.510C>T (p.Ala170=)
c.567C>T (p.Ala189=)
c.561C>T (p.Ala187=)
11g.128839734G>CCA477703345KCNJ1c.510C>G (p.Ala170=)
c.567C>G (p.Ala189=)
c.561C>G (p.Ala187=)
 ClinVar dbSNP
11g.128839734G=CA2008250963KCNJ1c.510C= (p.Ala170=)
c.567C= (p.Ala189=)
c.561C= (p.Ala187=)
11g.128839734G>TCA477703346KCNJ1c.510C>A (p.Ala170=)
c.567C>A (p.Ala189=)
c.561C>A (p.Ala187=)
11g.128839735G>ACA383244863KCNJ1c.509C>T (p.Ala170Val)
c.566C>T (p.Ala189Val)
c.560C>T (p.Ala187Val)
11g.128839735G>CCA383244864KCNJ1c.509C>G (p.Ala170Gly)
c.566C>G (p.Ala189Gly)
c.560C>G (p.Ala187Gly)
11g.128839735G>TCA383244862KCNJ1c.509C>A (p.Ala170Asp)
c.566C>A (p.Ala189Asp)
c.560C>A (p.Ala187Asp)
11g.128839736C>ACA383244867KCNJ1c.508G>T (p.Ala170Ser)
c.565G>T (p.Ala189Ser)
c.559G>T (p.Ala187Ser)
11g.128839736C>GCA383244865KCNJ1c.508G>C (p.Ala170Pro)
c.565G>C (p.Ala189Pro)
c.559G>C (p.Ala187Pro)
11g.128839736C>TCA383244866KCNJ1c.508G>A (p.Ala170Thr)
c.565G>A (p.Ala189Thr)
c.559G>A (p.Ala187Thr)
 gnomAD v4
11g.128839736dupCA2616771384KCNJ1c.508dup (p.Ala170GlyfsTer27)
c.565dup (p.Ala189GlyfsTer27)
c.559dup (p.Ala187GlyfsTer27)
 gnomAD v4
11g.128839737A>CCA477703347KCNJ1c.507T>G (p.Arg169=)
c.564T>G (p.Arg188=)
c.558T>G (p.Arg186=)
 gnomAD v4
11g.128839737A>GCA477703349KCNJ1c.507T>C (p.Arg169=)
c.564T>C (p.Arg188=)
c.558T>C (p.Arg186=)
11g.128839737A>TCA477703348KCNJ1c.507T>A (p.Arg169=)
c.564T>A (p.Arg188=)
c.558T>A (p.Arg186=)
11g.128839738C>ACA383244868KCNJ1c.506G>T (p.Arg169Leu)
c.563G>T (p.Arg188Leu)
c.557G>T (p.Arg186Leu)
 COSMIC
11g.128839738C=CA2008250968KCNJ1c.506G= (p.Arg169=)
c.563G= (p.Arg188=)
c.557G= (p.Arg186=)
11g.128839738C>GCA383244869KCNJ1c.506G>C (p.Arg169Pro)
c.563G>C (p.Arg188Pro)
c.557G>C (p.Arg186Pro)
11g.128839738C>TCA6357504KCNJ1c.506G>A (p.Arg169His)
c.563G>A (p.Arg188His)
c.557G>A (p.Arg186His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839739G>ACA6357505KCNJ1c.505C>T (p.Arg169Cys)
c.562C>T (p.Arg188Cys)
c.556C>T (p.Arg186Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839739G>CCA383244870KCNJ1c.505C>G (p.Arg169Gly)
c.562C>G (p.Arg188Gly)
c.556C>G (p.Arg186Gly)
11g.128839739G=CA2008250977KCNJ1c.505C= (p.Arg169=)
c.562C= (p.Arg188=)
c.556C= (p.Arg186=)
11g.128839739G>TCA6357506KCNJ1c.505C>A (p.Arg169Ser)
c.562C>A (p.Arg188Ser)
c.556C>A (p.Arg186Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839739_128839740delinsGTCA2008250980KCNJ1c.504_505delinsAC (p.Lys168=)
c.561_562delinsAC (p.Lys187=)
c.555_556delinsAC (p.Lys185=)
11g.128839740T>ACA383244871KCNJ1c.504A>T (p.Lys168Asn)
c.561A>T (p.Lys187Asn)
c.555A>T (p.Lys185Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.128839740T>CCA477703356KCNJ1c.504A>G (p.Lys168=)
c.561A>G (p.Lys187=)
c.555A>G (p.Lys185=)
11g.128839740T>GCA383244872KCNJ1c.504A>C (p.Lys168Asn)
c.561A>C (p.Lys187Asn)
c.555A>C (p.Lys185Asn)
11g.128839740T=CA2008250991KCNJ1c.504A= (p.Lys168=)
c.561A= (p.Lys187=)
c.555A= (p.Lys185=)
11g.128839745dupCA6357507KCNJ1c.504dup (p.Arg169ThrfsTer28)
c.561dup (p.Arg188ThrfsTer28)
c.555dup (p.Arg186ThrfsTer28)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839745delCA673266863KCNJ1c.504del (p.Lys168AsnfsTer13)
c.561del (p.Lys187AsnfsTer13)
c.555del (p.Lys185AsnfsTer13)
 ClinVar dbSNP gnomAD v4
11g.128839741T>ACA383244875KCNJ1c.503A>T (p.Lys168Ile)
c.560A>T (p.Lys187Ile)
c.554A>T (p.Lys185Ile)
11g.128839741T>CCA383244874KCNJ1c.503A>G (p.Lys168Arg)
c.560A>G (p.Lys187Arg)
c.554A>G (p.Lys185Arg)
11g.128839741T>GCA383244873KCNJ1c.503A>C (p.Lys168Thr)
c.560A>C (p.Lys187Thr)
c.554A>C (p.Lys185Thr)
11g.128839742T>ACA383244876KCNJ1c.502A>T (p.Lys168Ter)
c.559A>T (p.Lys187Ter)
c.553A>T (p.Lys185Ter)
11g.128839742T>CCA383244877KCNJ1c.502A>G (p.Lys168Glu)
c.559A>G (p.Lys187Glu)
c.553A>G (p.Lys185Glu)
 gnomAD v4
11g.128839742T>GCA383244878KCNJ1c.502A>C (p.Lys168Gln)
c.559A>C (p.Lys187Gln)
c.553A>C (p.Lys185Gln)
11g.128839743T>ACA6357508KCNJ1c.501A>T (p.Lys167Asn)
c.558A>T (p.Lys186Asn)
c.552A>T (p.Lys184Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839743T>CCA477703359KCNJ1c.501A>G (p.Lys167=)
c.558A>G (p.Lys186=)
c.552A>G (p.Lys184=)
11g.128839743T>GCA383244879KCNJ1c.501A>C (p.Lys167Asn)
c.558A>C (p.Lys186Asn)
c.552A>C (p.Lys184Asn)
11g.128839743T=CA2008251003KCNJ1c.501A= (p.Lys167=)
c.558A= (p.Lys186=)
c.552A= (p.Lys184=)
11g.128839744T>ACA383244880KCNJ1c.500A>T (p.Lys167Ile)
c.557A>T (p.Lys186Ile)
c.551A>T (p.Lys184Ile)
11g.128839744T>CCA383244881KCNJ1c.500A>G (p.Lys167Arg)
c.557A>G (p.Lys186Arg)
c.551A>G (p.Lys184Arg)
11g.128839744T>GCA383244882KCNJ1c.500A>C (p.Lys167Thr)
c.557A>C (p.Lys186Thr)
c.551A>C (p.Lys184Thr)
11g.128839745T>ACA383244883KCNJ1c.499A>T (p.Lys167Ter)
c.556A>T (p.Lys186Ter)
c.550A>T (p.Lys184Ter)
 ClinVar
11g.128839745T>CCA6357509KCNJ1c.499A>G (p.Lys167Glu)
c.556A>G (p.Lys186Glu)
c.550A>G (p.Lys184Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839745T>GCA383244884KCNJ1c.499A>C (p.Lys167Gln)
c.556A>C (p.Lys186Gln)
c.550A>C (p.Lys184Gln)
11g.128839745T=CA2008251004KCNJ1c.499A= (p.Lys167=)
c.556A= (p.Lys186=)
c.550A= (p.Lys184=)
11g.128839746G>ACA477703362KCNJ1c.498C>T (p.Pro166=)
c.555C>T (p.Pro185=)
c.549C>T (p.Pro183=)
11g.128839746G>CCA6357510KCNJ1c.498C>G (p.Pro166=)
c.555C>G (p.Pro185=)
c.549C>G (p.Pro183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839746G=CA2008251009KCNJ1c.498C= (p.Pro166=)
c.555C= (p.Pro185=)
c.549C= (p.Pro183=)
11g.128839746G>TCA477703360KCNJ1c.498C>A (p.Pro166=)
c.555C>A (p.Pro185=)
c.549C>A (p.Pro183=)
11g.128839747G>ACA383244886KCNJ1c.497C>T (p.Pro166Leu)
c.554C>T (p.Pro185Leu)
c.548C>T (p.Pro183Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839747G>CCA383244887KCNJ1c.497C>G (p.Pro166Arg)
c.554C>G (p.Pro185Arg)
c.548C>G (p.Pro183Arg)
11g.128839747G=CA2008251014KCNJ1c.497C= (p.Pro166=)
c.554C= (p.Pro185=)
c.548C= (p.Pro183=)
11g.128839747G>TCA383244885KCNJ1c.497C>A (p.Pro166His)
c.554C>A (p.Pro185His)
c.548C>A (p.Pro183His)
11g.128839748G>ACA6357511KCNJ1c.496C>T (p.Pro166Ser)
c.553C>T (p.Pro185Ser)
c.547C>T (p.Pro183Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839748G>CCA383244888KCNJ1c.496C>G (p.Pro166Ala)
c.553C>G (p.Pro185Ala)
c.547C>G (p.Pro183Ala)
11g.128839748G=CA2008251017KCNJ1c.496C= (p.Pro166=)
c.553C= (p.Pro185=)
c.547C= (p.Pro183=)
11g.128839748G>TCA383244889KCNJ1c.496C>A (p.Pro166Thr)
c.553C>A (p.Pro185Thr)
c.547C>A (p.Pro183Thr)

Number of alleles fetched