Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839274T>ACA383243096KCNJ1c.970A>T (p.Asn324Tyr)
c.1027A>T (p.Asn343Tyr)
c.1021A>T (p.Asn341Tyr)
11g.128839274T>CCA383243098KCNJ1c.970A>G (p.Asn324Asp)
c.1027A>G (p.Asn343Asp)
c.1021A>G (p.Asn341Asp)
11g.128839274T>GCA383243097KCNJ1c.970A>C (p.Asn324His)
c.1027A>C (p.Asn343His)
c.1021A>C (p.Asn341His)
 dbSNP gnomAD v2 gnomAD v4
11g.128839274T=CA2008286261KCNJ1c.970A= (p.Asn324=)
c.1027A= (p.Asn343=)
c.1021A= (p.Asn341=)
11g.128839275A>CCA383243101KCNJ1c.969T>G (p.His323Gln)
c.1026T>G (p.His342Gln)
c.1020T>G (p.His340Gln)
11g.128839275A>GCA477702862KCNJ1c.969T>C (p.His323=)
c.1026T>C (p.His342=)
c.1020T>C (p.His340=)
11g.128839275A>TCA383243102KCNJ1c.969T>A (p.His323Gln)
c.1026T>A (p.His342Gln)
c.1020T>A (p.His340Gln)
11g.128839276T>ACA383243105KCNJ1c.968A>T (p.His323Leu)
c.1025A>T (p.His342Leu)
c.1019A>T (p.His340Leu)
11g.128839276T>CCA383243106KCNJ1c.968A>G (p.His323Arg)
c.1025A>G (p.His342Arg)
c.1019A>G (p.His340Arg)
11g.128839276T>GCA383243107KCNJ1c.968A>C (p.His323Pro)
c.1025A>C (p.His342Pro)
c.1019A>C (p.His340Pro)
11g.128839277G>ACA6357408KCNJ1c.967C>T (p.His323Tyr)
c.1024C>T (p.His342Tyr)
c.1018C>T (p.His340Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839277G>CCA383243111KCNJ1c.967C>G (p.His323Asp)
c.1024C>G (p.His342Asp)
c.1018C>G (p.His340Asp)
11g.128839277G=CA2008286263KCNJ1c.967C= (p.His323=)
c.1024C= (p.His342=)
c.1018C= (p.His340=)
11g.128839277G>TCA383243108KCNJ1c.967C>A (p.His323Asn)
c.1024C>A (p.His342Asn)
c.1018C>A (p.His340Asn)
11g.128839278G>ACA6357409KCNJ1c.966C>T (p.Phe322=)
c.1023C>T (p.Phe341=)
c.1017C>T (p.Phe339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839278G>CCA383243113KCNJ1c.966C>G (p.Phe322Leu)
c.1023C>G (p.Phe341Leu)
c.1017C>G (p.Phe339Leu)
11g.128839278G=CA2008286266KCNJ1c.966C= (p.Phe322=)
c.1023C= (p.Phe341=)
c.1017C= (p.Phe339=)
11g.128839278G>TCA383243115KCNJ1c.966C>A (p.Phe322Leu)
c.1023C>A (p.Phe341Leu)
c.1017C>A (p.Phe339Leu)
 COSMIC
11g.128839279A>CCA383243118KCNJ1c.965T>G (p.Phe322Cys)
c.1022T>G (p.Phe341Cys)
c.1016T>G (p.Phe339Cys)
11g.128839279A>GCA383243120KCNJ1c.965T>C (p.Phe322Ser)
c.1022T>C (p.Phe341Ser)
c.1016T>C (p.Phe339Ser)
11g.128839279A>TCA383243122KCNJ1c.965T>A (p.Phe322Tyr)
c.1022T>A (p.Phe341Tyr)
c.1016T>A (p.Phe339Tyr)
11g.128839280A>CCA383243124KCNJ1c.964T>G (p.Phe322Val)
c.1021T>G (p.Phe341Val)
c.1015T>G (p.Phe339Val)
11g.128839280A>GCA383243126KCNJ1c.964T>C (p.Phe322Leu)
c.1021T>C (p.Phe341Leu)
c.1015T>C (p.Phe339Leu)
11g.128839280A>TCA383243128KCNJ1c.964T>A (p.Phe322Ile)
c.1021T>A (p.Phe341Ile)
c.1015T>A (p.Phe339Ile)
11g.128839281A>CCA383243129KCNJ1c.963T>G (p.Asp321Glu)
c.1020T>G (p.Asp340Glu)
c.1014T>G (p.Asp338Glu)
11g.128839281A>GCA477702868KCNJ1c.963T>C (p.Asp321=)
c.1020T>C (p.Asp340=)
c.1014T>C (p.Asp338=)
11g.128839281A>TCA383243130KCNJ1c.963T>A (p.Asp321Glu)
c.1020T>A (p.Asp340Glu)
c.1014T>A (p.Asp338Glu)
11g.128839282T>ACA383243133KCNJ1c.962A>T (p.Asp321Val)
c.1019A>T (p.Asp340Val)
c.1013A>T (p.Asp338Val)
11g.128839282T>CCA383243135KCNJ1c.962A>G (p.Asp321Gly)
c.1019A>G (p.Asp340Gly)
c.1013A>G (p.Asp338Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.128839282T>GCA383243136KCNJ1c.962A>C (p.Asp321Ala)
c.1019A>C (p.Asp340Ala)
c.1013A>C (p.Asp338Ala)
11g.128839282T=CA2008286269KCNJ1c.962A= (p.Asp321=)
c.1019A= (p.Asp340=)
c.1013A= (p.Asp338=)
11g.128839283C>ACA383243139KCNJ1c.961G>T (p.Asp321Tyr)
c.1018G>T (p.Asp340Tyr)
c.1012G>T (p.Asp338Tyr)
11g.128839283C>GCA383243141KCNJ1c.961G>C (p.Asp321His)
c.1018G>C (p.Asp340His)
c.1012G>C (p.Asp338His)
11g.128839283C>TCA383243142KCNJ1c.961G>A (p.Asp321Asn)
c.1018G>A (p.Asp340Asn)
c.1012G>A (p.Asp338Asn)
11g.128839284C>ACA477702872KCNJ1c.960G>T (p.Val320=)
c.1017G>T (p.Val339=)
c.1011G>T (p.Val337=)
11g.128839284C>GCA477702873KCNJ1c.960G>C (p.Val320=)
c.1017G>C (p.Val339=)
c.1011G>C (p.Val337=)
11g.128839284C>TCA477702874KCNJ1c.960G>A (p.Val320=)
c.1017G>A (p.Val339=)
c.1011G>A (p.Val337=)
 gnomAD v4
11g.128839285A>CCA383243144KCNJ1c.959T>G (p.Val320Gly)
c.1016T>G (p.Val339Gly)
c.1010T>G (p.Val337Gly)
11g.128839285A>GCA383243147KCNJ1c.959T>C (p.Val320Ala)
c.1016T>C (p.Val339Ala)
c.1010T>C (p.Val337Ala)
11g.128839285A>TCA383243145KCNJ1c.959T>A (p.Val320Glu)
c.1016T>A (p.Val339Glu)
c.1010T>A (p.Val337Glu)
11g.128839286C>ACA383243149KCNJ1c.958G>T (p.Val320Leu)
c.1015G>T (p.Val339Leu)
c.1009G>T (p.Val337Leu)
11g.128839286C>GCA383243150KCNJ1c.958G>C (p.Val320Leu)
c.1015G>C (p.Val339Leu)
c.1009G>C (p.Val337Leu)
11g.128839286C>TCA383243152KCNJ1c.958G>A (p.Val320Met)
c.1015G>A (p.Val339Met)
c.1009G>A (p.Val337Met)
11g.128839287T>ACA477702880KCNJ1c.957A>T (p.Arg319=)
c.1014A>T (p.Arg338=)
c.1008A>T (p.Arg336=)
11g.128839287T>CCA477702882KCNJ1c.957A>G (p.Arg319=)
c.1014A>G (p.Arg338=)
c.1008A>G (p.Arg336=)
11g.128839287T>GCA477702878KCNJ1c.957A>C (p.Arg319=)
c.1014A>C (p.Arg338=)
c.1008A>C (p.Arg336=)
11g.128839288C>ACA383243154KCNJ1c.956G>T (p.Arg319Leu)
c.1013G>T (p.Arg338Leu)
c.1007G>T (p.Arg336Leu)
11g.128839288C=CA2008286273KCNJ1c.956G= (p.Arg319=)
c.1013G= (p.Arg338=)
c.1007G= (p.Arg336=)
11g.128839288C>GCA383243156KCNJ1c.956G>C (p.Arg319Pro)
c.1013G>C (p.Arg338Pro)
c.1007G>C (p.Arg336Pro)
11g.128839288C>TCA6357410KCNJ1c.956G>A (p.Arg319Gln)
c.1013G>A (p.Arg338Gln)
c.1007G>A (p.Arg336Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839289G>ACA6357411KCNJ1c.955C>T (p.Arg319Ter)
c.1012C>T (p.Arg338Ter)
c.1006C>T (p.Arg336Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839289G>CCA383243159KCNJ1c.955C>G (p.Arg319Gly)
c.1012C>G (p.Arg338Gly)
c.1006C>G (p.Arg336Gly)
11g.128839289G=CA2008286278KCNJ1c.955C= (p.Arg319=)
c.1012C= (p.Arg338=)
c.1006C= (p.Arg336=)
11g.128839289G>TCA477702885KCNJ1c.955C>A (p.Arg319=)
c.1012C>A (p.Arg338=)
c.1006C>A (p.Arg336=)
 gnomAD v4
11g.128839290G>ACA477702886KCNJ1c.954C>T (p.Tyr318=)
c.1011C>T (p.Tyr337=)
c.1005C>T (p.Tyr335=)
 ClinVar dbSNP
11g.128839290G>CCA383243161KCNJ1c.954C>G (p.Tyr318Ter)
c.1011C>G (p.Tyr337Ter)
c.1005C>G (p.Tyr335Ter)
11g.128839290G=CA2008286284KCNJ1c.954C= (p.Tyr318=)
c.1011C= (p.Tyr337=)
c.1005C= (p.Tyr335=)
11g.128839290G>TCA383243163KCNJ1c.954C>A (p.Tyr318Ter)
c.1011C>A (p.Tyr337Ter)
c.1005C>A (p.Tyr335Ter)
 dbSNP gnomAD v2
11g.128839291T>ACA383243165KCNJ1c.953A>T (p.Tyr318Phe)
c.1010A>T (p.Tyr337Phe)
c.1004A>T (p.Tyr335Phe)
11g.128839291T>CCA6357412KCNJ1c.953A>G (p.Tyr318Cys)
c.1010A>G (p.Tyr337Cys)
c.1004A>G (p.Tyr335Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839291T>GCA383243167KCNJ1c.953A>C (p.Tyr318Ser)
c.1010A>C (p.Tyr337Ser)
c.1004A>C (p.Tyr335Ser)
11g.128839291T=CA2008286287KCNJ1c.953A= (p.Tyr318=)
c.1010A= (p.Tyr337=)
c.1004A= (p.Tyr335=)
11g.128839292A=CA2008286291KCNJ1c.952T= (p.Tyr318=)
c.1009T= (p.Tyr337=)
c.1003T= (p.Tyr335=)
11g.128839292A>CCA383243170KCNJ1c.952T>G (p.Tyr318Asp)
c.1009T>G (p.Tyr337Asp)
c.1003T>G (p.Tyr335Asp)
11g.128839292A>GCA383243173KCNJ1c.952T>C (p.Tyr318His)
c.1009T>C (p.Tyr337His)
c.1003T>C (p.Tyr335His)
 gnomAD v4
11g.128839292A>TCA383243171KCNJ1c.952T>A (p.Tyr318Asn)
c.1009T>A (p.Tyr337Asn)
c.1003T>A (p.Tyr335Asn)
 dbSNP
11g.128839293T>ACA383243174KCNJ1c.951A>T (p.Lys317Asn)
c.1008A>T (p.Lys336Asn)
c.1002A>T (p.Lys334Asn)
11g.128839293T>CCA477702893KCNJ1c.951A>G (p.Lys317=)
c.1008A>G (p.Lys336=)
c.1002A>G (p.Lys334=)
11g.128839293T>GCA383243175KCNJ1c.951A>C (p.Lys317Asn)
c.1008A>C (p.Lys336Asn)
c.1002A>C (p.Lys334Asn)
 gnomAD v4
11g.128839294T>ACA383243177KCNJ1c.950A>T (p.Lys317Ile)
c.1007A>T (p.Lys336Ile)
c.1001A>T (p.Lys334Ile)
11g.128839294T>CCA383243179KCNJ1c.950A>G (p.Lys317Arg)
c.1007A>G (p.Lys336Arg)
c.1001A>G (p.Lys334Arg)
11g.128839294T>GCA383243181KCNJ1c.950A>C (p.Lys317Thr)
c.1007A>C (p.Lys336Thr)
c.1001A>C (p.Lys334Thr)
11g.128839295T>ACA383243183KCNJ1c.949A>T (p.Lys317Ter)
c.1006A>T (p.Lys336Ter)
c.1000A>T (p.Lys334Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839295T>CCA6357413KCNJ1c.949A>G (p.Lys317Glu)
c.1006A>G (p.Lys336Glu)
c.1000A>G (p.Lys334Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839295T>GCA383243186KCNJ1c.949A>C (p.Lys317Gln)
c.1006A>C (p.Lys336Gln)
c.1000A>C (p.Lys334Gln)
11g.128839295T=CA2008286292KCNJ1c.949A= (p.Lys317=)
c.1006A= (p.Lys336=)
c.1000A= (p.Lys334=)
11g.128839296_128839299delCA2616771375KCNJ1c.946_949del (p.Gly316AsnfsTer?)
c.1003_1006del (p.Gly335AsnfsTer?)
c.997_1000del (p.Gly333AsnfsTer?)
 gnomAD v4
11g.128839296C>ACA477702897KCNJ1c.948G>T (p.Gly316=)
c.1005G>T (p.Gly335=)
c.999G>T (p.Gly333=)
11g.128839296C>GCA477702898KCNJ1c.948G>C (p.Gly316=)
c.1005G>C (p.Gly335=)
c.999G>C (p.Gly333=)
 COSMIC
11g.128839296C>TCA477702900KCNJ1c.948G>A (p.Gly316=)
c.1005G>A (p.Gly335=)
c.999G>A (p.Gly333=)
 COSMIC
11g.128839297C>ACA383243188KCNJ1c.947G>T (p.Gly316Val)
c.1004G>T (p.Gly335Val)
c.998G>T (p.Gly333Val)
11g.128839297C>GCA383243190KCNJ1c.947G>C (p.Gly316Ala)
c.1004G>C (p.Gly335Ala)
c.998G>C (p.Gly333Ala)
11g.128839297C>TCA383243192KCNJ1c.947G>A (p.Gly316Glu)
c.1004G>A (p.Gly335Glu)
c.998G>A (p.Gly333Glu)
11g.128839298C>ACA383243193KCNJ1c.946G>T (p.Gly316Trp)
c.1003G>T (p.Gly335Trp)
c.997G>T (p.Gly333Trp)
11g.128839298C=CA2008286294KCNJ1c.946G= (p.Gly316=)
c.1003G= (p.Gly335=)
c.997G= (p.Gly333=)
11g.128839298C>GCA383243194KCNJ1c.946G>C (p.Gly316Arg)
c.1003G>C (p.Gly335Arg)
c.997G>C (p.Gly333Arg)
11g.128839298C>TCA383243195KCNJ1c.946G>A (p.Gly316Arg)
c.1003G>A (p.Gly335Arg)
c.997G>A (p.Gly333Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.128839299T>ACA383243196KCNJ1c.945A>T (p.Glu315Asp)
c.1002A>T (p.Glu334Asp)
c.996A>T (p.Glu332Asp)
11g.128839299T>CCA477702902KCNJ1c.945A>G (p.Glu315=)
c.1002A>G (p.Glu334=)
c.996A>G (p.Glu332=)
11g.128839299T>GCA383243197KCNJ1c.945A>C (p.Glu315Asp)
c.1002A>C (p.Glu334Asp)
c.996A>C (p.Glu332Asp)
11g.128839300T>ACA383243198KCNJ1c.944A>T (p.Glu315Val)
c.1001A>T (p.Glu334Val)
c.995A>T (p.Glu332Val)
11g.128839300T>CCA383243200KCNJ1c.944A>G (p.Glu315Gly)
c.1001A>G (p.Glu334Gly)
c.995A>G (p.Glu332Gly)
11g.128839300T>GCA383243202KCNJ1c.944A>C (p.Glu315Ala)
c.1001A>C (p.Glu334Ala)
c.995A>C (p.Glu332Ala)
11g.128839301C>ACA383243204KCNJ1c.943G>T (p.Glu315Ter)
c.1000G>T (p.Glu334Ter)
c.994G>T (p.Glu332Ter)
11g.128839301C>GCA383243206KCNJ1c.943G>C (p.Glu315Gln)
c.1000G>C (p.Glu334Gln)
c.994G>C (p.Glu332Gln)
11g.128839301C>TCA383243208KCNJ1c.943G>A (p.Glu315Lys)
c.1000G>A (p.Glu334Lys)
c.994G>A (p.Glu332Lys)
11g.128839302delCA2616771376KCNJ1c.943del (p.Glu315LysfsTer?)
c.1000del (p.Glu334LysfsTer?)
c.994del (p.Glu332LysfsTer?)
 gnomAD v4
11g.128839301_128839305delinsCCTTTCA2008286296KCNJ1c.939_943delinsAAAGG (p.Thr313=)
c.996_1000delinsAAAGG (p.Thr332=)
c.990_994delinsAAAGG (p.Thr330=)
11g.128839302C>ACA383243211KCNJ1c.942G>T (p.Lys314Asn)
c.999G>T (p.Lys333Asn)
c.993G>T (p.Lys331Asn)
11g.128839302C=CA2008286301KCNJ1c.942G= (p.Lys314=)
c.999G= (p.Lys333=)
c.993G= (p.Lys331=)
11g.128839302C>GCA383243212KCNJ1c.942G>C (p.Lys314Asn)
c.999G>C (p.Lys333Asn)
c.993G>C (p.Lys331Asn)
11g.128839302C>TCA477702908KCNJ1c.942G>A (p.Lys314=)
c.999G>A (p.Lys333=)
c.993G>A (p.Lys331=)
 dbSNP
11g.128839302_128839305delCA6357414KCNJ1c.939_942del (p.Glu315GlyfsTer?)
c.996_999del (p.Glu334GlyfsTer?)
c.990_993del (p.Glu332GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839303T>ACA383243216KCNJ1c.941A>T (p.Lys314Met)
c.998A>T (p.Lys333Met)
c.992A>T (p.Lys331Met)
11g.128839303T>CCA383243217KCNJ1c.941A>G (p.Lys314Arg)
c.998A>G (p.Lys333Arg)
c.992A>G (p.Lys331Arg)
11g.128839303T>GCA383243219KCNJ1c.941A>C (p.Lys314Thr)
c.998A>C (p.Lys333Thr)
c.992A>C (p.Lys331Thr)
11g.128839304T>ACA383243220KCNJ1c.940A>T (p.Lys314Ter)
c.997A>T (p.Lys333Ter)
c.991A>T (p.Lys331Ter)
11g.128839304T>CCA383243223KCNJ1c.940A>G (p.Lys314Glu)
c.997A>G (p.Lys333Glu)
c.991A>G (p.Lys331Glu)
11g.128839304T>GCA383243222KCNJ1c.940A>C (p.Lys314Gln)
c.997A>C (p.Lys333Gln)
c.991A>C (p.Lys331Gln)
11g.128839305T>ACA477702912KCNJ1c.939A>T (p.Thr313=)
c.996A>T (p.Thr332=)
c.990A>T (p.Thr330=)
11g.128839305T>CCA477702913KCNJ1c.939A>G (p.Thr313=)
c.996A>G (p.Thr332=)
c.990A>G (p.Thr330=)
 dbSNP gnomAD v3 gnomAD v4
11g.128839305T>GCA477702914KCNJ1c.939A>C (p.Thr313=)
c.996A>C (p.Thr332=)
c.990A>C (p.Thr330=)
11g.128839305T=CA2008286304KCNJ1c.939A= (p.Thr313=)
c.996A= (p.Thr332=)
c.990A= (p.Thr330=)
11g.128839306G>ACA383243224KCNJ1c.938C>T (p.Thr313Ile)
c.995C>T (p.Thr332Ile)
c.989C>T (p.Thr330Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.128839306G>CCA383243226KCNJ1c.938C>G (p.Thr313Arg)
c.995C>G (p.Thr332Arg)
c.989C>G (p.Thr330Arg)
11g.128839306G=CA2008286306KCNJ1c.938C= (p.Thr313=)
c.995C= (p.Thr332=)
c.989C= (p.Thr330=)
11g.128839306G>TCA6357415KCNJ1c.938C>A (p.Thr313Lys)
c.995C>A (p.Thr332Lys)
c.989C>A (p.Thr330Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839307T>ACA383243228KCNJ1c.937A>T (p.Thr313Ser)
c.994A>T (p.Thr332Ser)
c.988A>T (p.Thr330Ser)
11g.128839307T>CCA383243230KCNJ1c.937A>G (p.Thr313Ala)
c.994A>G (p.Thr332Ala)
c.988A>G (p.Thr330Ala)
11g.128839307T>GCA383243231KCNJ1c.937A>C (p.Thr313Pro)
c.994A>C (p.Thr332Pro)
c.988A>C (p.Thr330Pro)
11g.128839308C>ACA383243234KCNJ1c.936G>T (p.Lys312Asn)
c.993G>T (p.Lys331Asn)
c.987G>T (p.Lys329Asn)
11g.128839308C>GCA383243233KCNJ1c.936G>C (p.Lys312Asn)
c.993G>C (p.Lys331Asn)
c.987G>C (p.Lys329Asn)
11g.128839308C>TCA477702916KCNJ1c.936G>A (p.Lys312=)
c.993G>A (p.Lys331=)
c.987G>A (p.Lys329=)
11g.128839309T>ACA383243236KCNJ1c.935A>T (p.Lys312Met)
c.992A>T (p.Lys331Met)
c.986A>T (p.Lys329Met)
11g.128839309T>CCA383243238KCNJ1c.935A>G (p.Lys312Arg)
c.992A>G (p.Lys331Arg)
c.986A>G (p.Lys329Arg)
 gnomAD v4
11g.128839309T>GCA383243240KCNJ1c.935A>C (p.Lys312Thr)
c.992A>C (p.Lys331Thr)
c.986A>C (p.Lys329Thr)
 gnomAD v4
11g.128839310T>ACA383243242KCNJ1c.934A>T (p.Lys312Ter)
c.991A>T (p.Lys331Ter)
c.985A>T (p.Lys329Ter)
11g.128839310T>CCA383243244KCNJ1c.934A>G (p.Lys312Glu)
c.991A>G (p.Lys331Glu)
c.985A>G (p.Lys329Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.128839310T>GCA383243246KCNJ1c.934A>C (p.Lys312Gln)
c.991A>C (p.Lys331Gln)
c.985A>C (p.Lys329Gln)
11g.128839310T=CA2008286309KCNJ1c.934A= (p.Lys312=)
c.991A= (p.Lys331=)
c.985A= (p.Lys329=)
11g.128839311G>ACA477702921KCNJ1c.933C>T (p.Ser311=)
c.990C>T (p.Ser330=)
c.984C>T (p.Ser328=)
11g.128839311G>CCA477702919KCNJ1c.933C>G (p.Ser311=)
c.990C>G (p.Ser330=)
c.984C>G (p.Ser328=)
11g.128839311G>TCA477702918KCNJ1c.933C>A (p.Ser311=)
c.990C>A (p.Ser330=)
c.984C>A (p.Ser328=)
11g.128839312G>ACA383243251KCNJ1c.932C>T (p.Ser311Phe)
c.989C>T (p.Ser330Phe)
c.983C>T (p.Ser328Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.128839312G>CCA383243248KCNJ1c.932C>G (p.Ser311Cys)
c.989C>G (p.Ser330Cys)
c.983C>G (p.Ser328Cys)
11g.128839312G=CA2008286310KCNJ1c.932C= (p.Ser311=)
c.989C= (p.Ser330=)
c.983C= (p.Ser328=)
11g.128839312G>TCA383243250KCNJ1c.932C>A (p.Ser311Tyr)
c.989C>A (p.Ser330Tyr)
c.983C>A (p.Ser328Tyr)
 dbSNP gnomAD v4
11g.128839313A>CCA383243254KCNJ1c.931T>G (p.Ser311Ala)
c.988T>G (p.Ser330Ala)
c.982T>G (p.Ser328Ala)
11g.128839313A>GCA383243255KCNJ1c.931T>C (p.Ser311Pro)
c.988T>C (p.Ser330Pro)
c.982T>C (p.Ser328Pro)
11g.128839313A>TCA383243257KCNJ1c.931T>A (p.Ser311Thr)
c.988T>A (p.Ser330Thr)
c.982T>A (p.Ser328Thr)
11g.128839314T>ACA477702926KCNJ1c.930A>T (p.Val310=)
c.987A>T (p.Val329=)
c.981A>T (p.Val327=)
11g.128839314T>CCA477702924KCNJ1c.930A>G (p.Val310=)
c.987A>G (p.Val329=)
c.981A>G (p.Val327=)
11g.128839314T>GCA477702925KCNJ1c.930A>C (p.Val310=)
c.987A>C (p.Val329=)
c.981A>C (p.Val327=)
11g.128839315A>CCA383243259KCNJ1c.929T>G (p.Val310Gly)
c.986T>G (p.Val329Gly)
c.980T>G (p.Val327Gly)
11g.128839315A>GCA383243261KCNJ1c.929T>C (p.Val310Ala)
c.986T>C (p.Val329Ala)
c.980T>C (p.Val327Ala)
11g.128839315A>TCA383243263KCNJ1c.929T>A (p.Val310Glu)
c.986T>A (p.Val329Glu)
c.980T>A (p.Val327Glu)
11g.128839316C>ACA383243265KCNJ1c.928G>T (p.Val310Leu)
c.985G>T (p.Val329Leu)
c.979G>T (p.Val327Leu)
11g.128839316C>GCA383243267KCNJ1c.928G>C (p.Val310Leu)
c.985G>C (p.Val329Leu)
c.979G>C (p.Val327Leu)
11g.128839316C>TCA383243269KCNJ1c.928G>A (p.Val310Ile)
c.985G>A (p.Val329Ile)
c.979G>A (p.Val327Ile)
11g.128839317T>ACA477702927KCNJ1c.927A>T (p.Ile309=)
c.984A>T (p.Ile328=)
c.978A>T (p.Ile326=)
11g.128839317T>CCA383243271KCNJ1c.927A>G (p.Ile309Met)
c.984A>G (p.Ile328Met)
c.978A>G (p.Ile326Met)
 gnomAD v4
11g.128839317T>GCA477702928KCNJ1c.927A>C (p.Ile309=)
c.984A>C (p.Ile328=)
c.978A>C (p.Ile326=)
11g.128839318A=CA2008286311KCNJ1c.926T= (p.Ile309=)
c.983T= (p.Ile328=)
c.977T= (p.Ile326=)
11g.128839318A>CCA383243273KCNJ1c.926T>G (p.Ile309Arg)
c.983T>G (p.Ile328Arg)
c.977T>G (p.Ile326Arg)
11g.128839318A>GCA383243274KCNJ1c.926T>C (p.Ile309Thr)
c.983T>C (p.Ile328Thr)
c.977T>C (p.Ile326Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.128839318A>TCA383243276KCNJ1c.926T>A (p.Ile309Lys)
c.983T>A (p.Ile328Lys)
c.977T>A (p.Ile326Lys)
11g.128839319T>ACA383243279KCNJ1c.925A>T (p.Ile309Leu)
c.982A>T (p.Ile328Leu)
c.976A>T (p.Ile326Leu)
11g.128839319T>CCA383243281KCNJ1c.925A>G (p.Ile309Val)
c.982A>G (p.Ile328Val)
c.976A>G (p.Ile326Val)
11g.128839319T>GCA383243280KCNJ1c.925A>C (p.Ile309Leu)
c.982A>C (p.Ile328Leu)
c.976A>C (p.Ile326Leu)
11g.128839320G>ACA230627930KCNJ1c.924C>T (p.Pro308=)
c.981C>T (p.Pro327=)
c.975C>T (p.Pro325=)
 dbSNP
11g.128839320G>CCA477702929KCNJ1c.924C>G (p.Pro308=)
c.981C>G (p.Pro327=)
c.975C>G (p.Pro325=)
 gnomAD v4
11g.128839320G=CA2008286313KCNJ1c.924C= (p.Pro308=)
c.981C= (p.Pro327=)
c.975C= (p.Pro325=)
11g.128839320G>TCA477702930KCNJ1c.924C>A (p.Pro308=)
c.981C>A (p.Pro327=)
c.975C>A (p.Pro325=)
11g.128839321G>ACA6357416KCNJ1c.923C>T (p.Pro308Leu)
c.980C>T (p.Pro327Leu)
c.974C>T (p.Pro325Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839321G>CCA383243285KCNJ1c.923C>G (p.Pro308Arg)
c.980C>G (p.Pro327Arg)
c.974C>G (p.Pro325Arg)
11g.128839321G=CA2008286315KCNJ1c.923C= (p.Pro308=)
c.980C= (p.Pro327=)
c.974C= (p.Pro325=)
11g.128839321G>TCA383243286KCNJ1c.923C>A (p.Pro308His)
c.980C>A (p.Pro327His)
c.974C>A (p.Pro325His)
11g.128839322G>ACA383243288KCNJ1c.922C>T (p.Pro308Ser)
c.979C>T (p.Pro327Ser)
c.973C>T (p.Pro325Ser)
11g.128839322G>CCA383243289KCNJ1c.922C>G (p.Pro308Ala)
c.979C>G (p.Pro327Ala)
c.973C>G (p.Pro325Ala)
11g.128839322G>TCA383243291KCNJ1c.922C>A (p.Pro308Thr)
c.979C>A (p.Pro327Thr)
c.973C>A (p.Pro325Thr)
11g.128839323A>CCA477702932KCNJ1c.921T>G (p.Ala307=)
c.978T>G (p.Ala326=)
c.972T>G (p.Ala324=)
11g.128839323A>GCA477702933KCNJ1c.921T>C (p.Ala307=)
c.978T>C (p.Ala326=)
c.972T>C (p.Ala324=)
11g.128839323A>TCA477702934KCNJ1c.921T>A (p.Ala307=)
c.978T>A (p.Ala326=)
c.972T>A (p.Ala324=)
11g.128839324G>ACA383243294KCNJ1c.920C>T (p.Ala307Val)
c.977C>T (p.Ala326Val)
c.971C>T (p.Ala324Val)
 gnomAD v4
11g.128839324G>CCA383243295KCNJ1c.920C>G (p.Ala307Gly)
c.977C>G (p.Ala326Gly)
c.971C>G (p.Ala324Gly)
11g.128839324G=CA2008286321KCNJ1c.920C= (p.Ala307=)
c.977C= (p.Ala326=)
c.971C= (p.Ala324=)
11g.128839324G>TCA6357417KCNJ1c.920C>A (p.Ala307Asp)
c.977C>A (p.Ala326Asp)
c.971C>A (p.Ala324Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839324_128839325delinsGCCA2008286323KCNJ1c.919_920delinsGC (p.Ala307=)
c.976_977delinsGC (p.Ala326=)
c.970_971delinsGC (p.Ala324=)
11g.128839325delCA943454679KCNJ1c.919del (p.Ala307LeufsTer3)
c.976del (p.Ala326LeufsTer3)
c.970del (p.Ala324LeufsTer3)
 dbSNP gnomAD v3 gnomAD v4
11g.128839325C>ACA6357418KCNJ1c.919G>T (p.Ala307Ser)
c.976G>T (p.Ala326Ser)
c.970G>T (p.Ala324Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839325C=CA2008286326KCNJ1c.919G= (p.Ala307=)
c.976G= (p.Ala326=)
c.970G= (p.Ala324=)
11g.128839325C>GCA383243299KCNJ1c.919G>C (p.Ala307Pro)
c.976G>C (p.Ala326Pro)
c.970G>C (p.Ala324Pro)
11g.128839325C>TCA383243301KCNJ1c.919G>A (p.Ala307Thr)
c.976G>A (p.Ala326Thr)
c.970G>A (p.Ala324Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.128839326A=CA2008286331KCNJ1c.918T= (p.Phe306=)
c.975T= (p.Phe325=)
c.969T= (p.Phe323=)
11g.128839326A>CCA230627934KCNJ1c.918T>G (p.Phe306Leu)
c.975T>G (p.Phe325Leu)
c.969T>G (p.Phe323Leu)
 dbSNP
11g.128839326A>GCA477702935KCNJ1c.918T>C (p.Phe306=)
c.975T>C (p.Phe325=)
c.969T>C (p.Phe323=)
11g.128839326A>TCA383243304KCNJ1c.918T>A (p.Phe306Leu)
c.975T>A (p.Phe325Leu)
c.969T>A (p.Phe323Leu)
11g.128839329delCA2739271798KCNJ1c.918del (p.Phe306LeufsTer4)
c.975del (p.Phe325LeufsTer4)
c.969del (p.Phe323LeufsTer4)
 ClinVar
11g.128839327A>CCA383243305KCNJ1c.917T>G (p.Phe306Cys)
c.974T>G (p.Phe325Cys)
c.968T>G (p.Phe323Cys)
11g.128839327A>GCA383243307KCNJ1c.917T>C (p.Phe306Ser)
c.974T>C (p.Phe325Ser)
c.968T>C (p.Phe323Ser)
11g.128839327A>TCA383243309KCNJ1c.917T>A (p.Phe306Tyr)
c.974T>A (p.Phe325Tyr)
c.968T>A (p.Phe323Tyr)
11g.128839328A>CCA383243311KCNJ1c.916T>G (p.Phe306Val)
c.973T>G (p.Phe325Val)
c.967T>G (p.Phe323Val)
11g.128839328A>GCA383243313KCNJ1c.916T>C (p.Phe306Leu)
c.973T>C (p.Phe325Leu)
c.967T>C (p.Phe323Leu)
11g.128839328A>TCA383243315KCNJ1c.916T>A (p.Phe306Ile)
c.973T>A (p.Phe325Ile)
c.967T>A (p.Phe323Ile)
11g.128839329A>CCA477702937KCNJ1c.915T>G (p.Arg305=)
c.972T>G (p.Arg324=)
c.966T>G (p.Arg322=)
11g.128839329A>GCA477702938KCNJ1c.915T>C (p.Arg305=)
c.972T>C (p.Arg324=)
c.966T>C (p.Arg322=)
11g.128839329A>TCA477702936KCNJ1c.915T>A (p.Arg305=)
c.972T>A (p.Arg324=)
c.966T>A (p.Arg322=)
11g.128839330C>ACA383243316KCNJ1c.914G>T (p.Arg305Leu)
c.971G>T (p.Arg324Leu)
c.965G>T (p.Arg322Leu)
11g.128839330C=CA2008286332KCNJ1c.914G= (p.Arg305=)
c.971G= (p.Arg324=)
c.965G= (p.Arg322=)
11g.128839330C>GCA383243317KCNJ1c.914G>C (p.Arg305Pro)
c.971G>C (p.Arg324Pro)
c.965G>C (p.Arg322Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.128839330C>TCA383243319KCNJ1c.914G>A (p.Arg305His)
c.971G>A (p.Arg324His)
c.965G>A (p.Arg322His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839331G>ACA6357419KCNJ1c.913C>T (p.Arg305Cys)
c.970C>T (p.Arg324Cys)
c.964C>T (p.Arg322Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839331G>CCA383243322KCNJ1c.913C>G (p.Arg305Gly)
c.970C>G (p.Arg324Gly)
c.964C>G (p.Arg322Gly)
 dbSNP gnomAD v4
11g.128839331G=CA2008286334KCNJ1c.913C= (p.Arg305=)
c.970C= (p.Arg324=)
c.964C= (p.Arg322=)
11g.128839331G>TCA383243324KCNJ1c.913C>A (p.Arg305Ser)
c.970C>A (p.Arg324Ser)
c.964C>A (p.Arg322Ser)
 ClinVar gnomAD v4
11g.128839332G>ACA477702940KCNJ1c.912C>T (p.Tyr304=)
c.969C>T (p.Tyr323=)
c.963C>T (p.Tyr321=)
11g.128839332G>CCA383243326KCNJ1c.912C>G (p.Tyr304Ter)
c.969C>G (p.Tyr323Ter)
c.963C>G (p.Tyr321Ter)
11g.128839332G>TCA383243327KCNJ1c.912C>A (p.Tyr304Ter)
c.969C>A (p.Tyr323Ter)
c.963C>A (p.Tyr321Ter)
11g.128839333T>ACA383243328KCNJ1c.911A>T (p.Tyr304Phe)
c.968A>T (p.Tyr323Phe)
c.962A>T (p.Tyr321Phe)
11g.128839333T>CCA6357420KCNJ1c.911A>G (p.Tyr304Cys)
c.968A>G (p.Tyr323Cys)
c.962A>G (p.Tyr321Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839333T>GCA383243330KCNJ1c.911A>C (p.Tyr304Ser)
c.968A>C (p.Tyr323Ser)
c.962A>C (p.Tyr321Ser)
11g.128839333T=CA2008286339KCNJ1c.911A= (p.Tyr304=)
c.968A= (p.Tyr323=)
c.962A= (p.Tyr321=)
11g.128839334A>CCA383243332KCNJ1c.910T>G (p.Tyr304Asp)
c.967T>G (p.Tyr323Asp)
c.961T>G (p.Tyr321Asp)
11g.128839334A>GCA383243335KCNJ1c.910T>C (p.Tyr304His)
c.967T>C (p.Tyr323His)
c.961T>C (p.Tyr321His)
11g.128839334A>TCA383243333KCNJ1c.910T>A (p.Tyr304Asn)
c.967T>A (p.Tyr323Asn)
c.961T>A (p.Tyr321Asn)
11g.128839335G>ACA477702943KCNJ1c.909C>T (p.Gly303=)
c.966C>T (p.Gly322=)
c.960C>T (p.Gly320=)
 dbSNP gnomAD v4
11g.128839335G>CCA477702942KCNJ1c.909C>G (p.Gly303=)
c.966C>G (p.Gly322=)
c.960C>G (p.Gly320=)
11g.128839335G=CA2008286341KCNJ1c.909C= (p.Gly303=)
c.966C= (p.Gly322=)
c.960C= (p.Gly320=)
11g.128839335G>TCA477702941KCNJ1c.909C>A (p.Gly303=)
c.966C>A (p.Gly322=)
c.960C>A (p.Gly320=)
11g.128839336C>ACA383243337KCNJ1c.908G>T (p.Gly303Val)
c.965G>T (p.Gly322Val)
c.959G>T (p.Gly320Val)
 gnomAD v4
11g.128839336C=CA2008286344KCNJ1c.908G= (p.Gly303=)
c.965G= (p.Gly322=)
c.959G= (p.Gly320=)
11g.128839336C>GCA383243338KCNJ1c.908G>C (p.Gly303Ala)
c.965G>C (p.Gly322Ala)
c.959G>C (p.Gly320Ala)
11g.128839336C>TCA6357421KCNJ1c.908G>A (p.Gly303Asp)
c.965G>A (p.Gly322Asp)
c.959G>A (p.Gly320Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839337C>ACA383243341KCNJ1c.907G>T (p.Gly303Cys)
c.964G>T (p.Gly322Cys)
c.958G>T (p.Gly320Cys)
11g.128839337C=CA2008286347KCNJ1c.907G= (p.Gly303=)
c.964G= (p.Gly322=)
c.958G= (p.Gly320=)
11g.128839337C>GCA383243342KCNJ1c.907G>C (p.Gly303Arg)
c.964G>C (p.Gly322Arg)
c.958G>C (p.Gly320Arg)
11g.128839337C>TCA6357422KCNJ1c.907G>A (p.Gly303Ser)
c.964G>A (p.Gly322Ser)
c.958G>A (p.Gly320Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839338C>ACA383243345KCNJ1c.906G>T (p.Trp302Cys)
c.963G>T (p.Trp321Cys)
c.957G>T (p.Trp319Cys)
11g.128839338C>GCA383243347KCNJ1c.906G>C (p.Trp302Cys)
c.963G>C (p.Trp321Cys)
c.957G>C (p.Trp319Cys)
11g.128839338C>TCA383243348KCNJ1c.906G>A (p.Trp302Ter)
c.963G>A (p.Trp321Ter)
c.957G>A (p.Trp319Ter)
 ClinVar
11g.128839339C>ACA383243349KCNJ1c.905G>T (p.Trp302Leu)
c.962G>T (p.Trp321Leu)
c.956G>T (p.Trp319Leu)
11g.128839339C=CA2008286351KCNJ1c.905G= (p.Trp302=)
c.962G= (p.Trp321=)
c.956G= (p.Trp319=)
11g.128839339C>GCA383243351KCNJ1c.905G>C (p.Trp302Ser)
c.962G>C (p.Trp321Ser)
c.956G>C (p.Trp319Ser)
11g.128839339C>TCA383243353KCNJ1c.905G>A (p.Trp302Ter)
c.962G>A (p.Trp321Ter)
c.956G>A (p.Trp319Ter)
 dbSNP
11g.128839340A>CCA383243355KCNJ1c.904T>G (p.Trp302Gly)
c.961T>G (p.Trp321Gly)
c.955T>G (p.Trp319Gly)
11g.128839340A>GCA383243359KCNJ1c.904T>C (p.Trp302Arg)
c.961T>C (p.Trp321Arg)
c.955T>C (p.Trp319Arg)
11g.128839340A>TCA383243357KCNJ1c.904T>A (p.Trp302Arg)
c.961T>A (p.Trp321Arg)
c.955T>A (p.Trp319Arg)
11g.128839341A=CA2008286354KCNJ1c.903T= (p.Leu301=)
c.960T= (p.Leu320=)
c.954T= (p.Leu318=)
11g.128839341A>CCA477702948KCNJ1c.903T>G (p.Leu301=)
c.960T>G (p.Leu320=)
c.954T>G (p.Leu318=)
 ClinVar
11g.128839341A>GCA6357423KCNJ1c.903T>C (p.Leu301=)
c.960T>C (p.Leu320=)
c.954T>C (p.Leu318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839341A>TCA477702949KCNJ1c.903T>A (p.Leu301=)
c.960T>A (p.Leu320=)
c.954T>A (p.Leu318=)
11g.128839342A=CA2008286356KCNJ1c.902T= (p.Leu301=)
c.959T= (p.Leu320=)
c.953T= (p.Leu318=)
11g.128839342A>CCA383243361KCNJ1c.902T>G (p.Leu301Arg)
c.959T>G (p.Leu320Arg)
c.953T>G (p.Leu318Arg)
11g.128839342A>GCA383243364KCNJ1c.902T>C (p.Leu301Pro)
c.959T>C (p.Leu320Pro)
c.953T>C (p.Leu318Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839342A>TCA383243365KCNJ1c.902T>A (p.Leu301His)
c.959T>A (p.Leu320His)
c.953T>A (p.Leu318His)
11g.128839342_128839343insCACACCCAACCA2794083163KCNJ1c.901_902insGTTGGGTGTG (p.Leu301ArgfsTer27)
c.958_959insGTTGGGTGTG (p.Leu320ArgfsTer27)
c.952_953insGTTGGGTGTG (p.Leu318ArgfsTer27)
11g.128839343delCA2616771377KCNJ1c.901del (p.Leu301PhefsTer9)
c.958del (p.Leu320PhefsTer9)
c.952del (p.Leu318PhefsTer9)
 gnomAD v4
11g.128839343G>ACA383243366KCNJ1c.901C>T (p.Leu301Phe)
c.958C>T (p.Leu320Phe)
c.952C>T (p.Leu318Phe)
11g.128839343G>CCA6357425KCNJ1c.901C>G (p.Leu301Val)
c.958C>G (p.Leu320Val)
c.952C>G (p.Leu318Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839343G=CA2008286360KCNJ1c.901C= (p.Leu301=)
c.958C= (p.Leu320=)
c.952C= (p.Leu318=)
11g.128839343G>TCA6357424KCNJ1c.901C>A (p.Leu301Ile)
c.958C>A (p.Leu320Ile)
c.952C>A (p.Leu318Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839344C>ACA477702950KCNJ1c.900G>T (p.Val300=)
c.957G>T (p.Val319=)
c.951G>T (p.Val317=)
11g.128839344C>GCA477702951KCNJ1c.900G>C (p.Val300=)
c.957G>C (p.Val319=)
c.951G>C (p.Val317=)
11g.128839344C>TCA477702952KCNJ1c.900G>A (p.Val300=)
c.957G>A (p.Val319=)
c.951G>A (p.Val317=)
11g.128839345_128839346delCA2825002002KCNJ1c.899_900del (p.Val300AlafsTer24)
c.956_957del (p.Val319AlafsTer24)
c.950_951del (p.Val317AlafsTer24)
 ClinVar
11g.128839345A>CCA383243367KCNJ1c.899T>G (p.Val300Gly)
c.956T>G (p.Val319Gly)
c.950T>G (p.Val317Gly)
11g.128839345A>GCA383243369KCNJ1c.899T>C (p.Val300Ala)
c.956T>C (p.Val319Ala)
c.950T>C (p.Val317Ala)
11g.128839345A>TCA383243370KCNJ1c.899T>A (p.Val300Glu)
c.956T>A (p.Val319Glu)
c.950T>A (p.Val317Glu)
11g.128839346C>ACA6357426KCNJ1c.898G>T (p.Val300Leu)
c.955G>T (p.Val319Leu)
c.949G>T (p.Val317Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839346C=CA2008286362KCNJ1c.898G= (p.Val300=)
c.955G= (p.Val319=)
c.949G= (p.Val317=)
11g.128839346C>GCA383243373KCNJ1c.898G>C (p.Val300Leu)
c.955G>C (p.Val319Leu)
c.949G>C (p.Val317Leu)
11g.128839346C>TCA383243372KCNJ1c.898G>A (p.Val300Met)
c.955G>A (p.Val319Met)
c.949G>A (p.Val317Met)
11g.128839347delCA2794083164KCNJ1c.898del (p.Val300CysfsTer10)
c.955del (p.Val319CysfsTer10)
c.949del (p.Val317CysfsTer10)
11g.128839347C>ACA6357427KCNJ1c.897G>T (p.Glu299Asp)
c.954G>T (p.Glu318Asp)
c.948G>T (p.Glu316Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839347C=CA2008286366KCNJ1c.897G= (p.Glu299=)
c.954G= (p.Glu318=)
c.948G= (p.Glu316=)
11g.128839347C>GCA383243374KCNJ1c.897G>C (p.Glu299Asp)
c.954G>C (p.Glu318Asp)
c.948G>C (p.Glu316Asp)
11g.128839347C>TCA477702954KCNJ1c.897G>A (p.Glu299=)
c.954G>A (p.Glu318=)
c.948G>A (p.Glu316=)
 gnomAD v4 COSMIC
11g.128839348T>ACA383243376KCNJ1c.896A>T (p.Glu299Val)
c.953A>T (p.Glu318Val)
c.947A>T (p.Glu316Val)
11g.128839348T>CCA383243378KCNJ1c.896A>G (p.Glu299Gly)
c.953A>G (p.Glu318Gly)
c.947A>G (p.Glu316Gly)
11g.128839348T>GCA383243380KCNJ1c.896A>C (p.Glu299Ala)
c.953A>C (p.Glu318Ala)
c.947A>C (p.Glu316Ala)
11g.128839349C>ACA6357428KCNJ1c.895G>T (p.Glu299Ter)
c.952G>T (p.Glu318Ter)
c.946G>T (p.Glu316Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839349C=CA2008286369KCNJ1c.895G= (p.Glu299=)
c.952G= (p.Glu318=)
c.946G= (p.Glu316=)
11g.128839349C>GCA383243384KCNJ1c.895G>C (p.Glu299Gln)
c.952G>C (p.Glu318Gln)
c.946G>C (p.Glu316Gln)
11g.128839349C>TCA383243385KCNJ1c.895G>A (p.Glu299Lys)
c.952G>A (p.Glu318Lys)
c.946G>A (p.Glu316Lys)
 COSMIC
11g.128839350delCA2616771378KCNJ1c.895del (p.Glu299ArgfsTer11)
c.952del (p.Glu318ArgfsTer11)
c.946del (p.Glu316ArgfsTer11)
 gnomAD v4
11g.128839350C>ACA383243387KCNJ1c.894G>T (p.Glu298Asp)
c.951G>T (p.Glu317Asp)
c.945G>T (p.Glu315Asp)
11g.128839350C>GCA383243389KCNJ1c.894G>C (p.Glu298Asp)
c.951G>C (p.Glu317Asp)
c.945G>C (p.Glu315Asp)
11g.128839350C>TCA477702955KCNJ1c.894G>A (p.Glu298=)
c.951G>A (p.Glu317=)
c.945G>A (p.Glu315=)
11g.128839351T>ACA383243391KCNJ1c.893A>T (p.Glu298Val)
c.950A>T (p.Glu317Val)
c.944A>T (p.Glu315Val)
11g.128839351T>CCA383243392KCNJ1c.893A>G (p.Glu298Gly)
c.950A>G (p.Glu317Gly)
c.944A>G (p.Glu315Gly)
11g.128839351T>GCA383243394KCNJ1c.893A>C (p.Glu298Ala)
c.950A>C (p.Glu317Ala)
c.944A>C (p.Glu315Ala)
11g.128839352C>ACA383243399KCNJ1c.892G>T (p.Glu298Ter)
c.949G>T (p.Glu317Ter)
c.943G>T (p.Glu315Ter)
11g.128839352C>GCA383243398KCNJ1c.892G>C (p.Glu298Gln)
c.949G>C (p.Glu317Gln)
c.943G>C (p.Glu315Gln)
11g.128839352C>TCA383243396KCNJ1c.892G>A (p.Glu298Lys)
c.949G>A (p.Glu317Lys)
c.943G>A (p.Glu315Lys)
11g.128839353_128839358delCA2616771379KCNJ1c.887_892del (p.Val296_Pro297del)
c.944_949del (p.Val315_Pro316del)
c.938_943del (p.Val313_Pro314del)
 gnomAD v4
11g.128839353T>ACA477702956KCNJ1c.891A>T (p.Pro297=)
c.948A>T (p.Pro316=)
c.942A>T (p.Pro314=)
11g.128839353T>CCA477702958KCNJ1c.891A>G (p.Pro297=)
c.948A>G (p.Pro316=)
c.942A>G (p.Pro314=)
11g.128839353T>GCA477702957KCNJ1c.891A>C (p.Pro297=)
c.948A>C (p.Pro316=)
c.942A>C (p.Pro314=)
11g.128839354G>ACA230627971KCNJ1c.890C>T (p.Pro297Leu)
c.947C>T (p.Pro316Leu)
c.941C>T (p.Pro314Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128839354G>CCA383243405KCNJ1c.890C>G (p.Pro297Arg)
c.947C>G (p.Pro316Arg)
c.941C>G (p.Pro314Arg)
11g.128839354G=CA2008286372KCNJ1c.890C= (p.Pro297=)
c.947C= (p.Pro316=)
c.941C= (p.Pro314=)
11g.128839354G>TCA383243407KCNJ1c.890C>A (p.Pro297Gln)
c.947C>A (p.Pro316Gln)
c.941C>A (p.Pro314Gln)
11g.128839356delCA2616771380KCNJ1c.890del (p.Pro297GlnfsTer13)
c.947del (p.Pro316GlnfsTer13)
c.941del (p.Pro314GlnfsTer13)
 gnomAD v4
11g.128839355G>ACA383243408KCNJ1c.889C>T (p.Pro297Ser)
c.946C>T (p.Pro316Ser)
c.940C>T (p.Pro314Ser)
 COSMIC
11g.128839355G>CCA383243410KCNJ1c.889C>G (p.Pro297Ala)
c.946C>G (p.Pro316Ala)
c.940C>G (p.Pro314Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.128839355G=CA2008286375KCNJ1c.889C= (p.Pro297=)
c.946C= (p.Pro316=)
c.940C= (p.Pro314=)
11g.128839355G>TCA383243412KCNJ1c.889C>A (p.Pro297Thr)
c.946C>A (p.Pro316Thr)
c.940C>A (p.Pro314Thr)
11g.128839356G>ACA6357429KCNJ1c.888C>T (p.Val296=)
c.945C>T (p.Val315=)
c.939C>T (p.Val313=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839356G>CCA477702960KCNJ1c.888C>G (p.Val296=)
c.945C>G (p.Val315=)
c.939C>G (p.Val313=)
11g.128839356G=CA2008286377KCNJ1c.888C= (p.Val296=)
c.945C= (p.Val315=)
c.939C= (p.Val313=)
11g.128839356G>TCA477702961KCNJ1c.888C>A (p.Val296=)
c.945C>A (p.Val315=)
c.939C>A (p.Val313=)
 COSMIC
11g.128839357A=CA2008286379KCNJ1c.887T= (p.Val296=)
c.944T= (p.Val315=)
c.938T= (p.Val313=)
11g.128839357A>CCA6357430KCNJ1c.887T>G (p.Val296Gly)
c.944T>G (p.Val315Gly)
c.938T>G (p.Val313Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839357A>GCA383243417KCNJ1c.887T>C (p.Val296Ala)
c.944T>C (p.Val315Ala)
c.938T>C (p.Val313Ala)
11g.128839357A>TCA383243419KCNJ1c.887T>A (p.Val296Asp)
c.944T>A (p.Val315Asp)
c.938T>A (p.Val313Asp)
11g.128839358C>ACA383243421KCNJ1c.886G>T (p.Val296Phe)
c.943G>T (p.Val315Phe)
c.937G>T (p.Val313Phe)
 dbSNP
11g.128839358C=CA2008286381KCNJ1c.886G= (p.Val296=)
c.943G= (p.Val315=)
c.937G= (p.Val313=)
11g.128839358C>GCA383243423KCNJ1c.886G>C (p.Val296Leu)
c.943G>C (p.Val315Leu)
c.937G>C (p.Val313Leu)
11g.128839358C>TCA383243425KCNJ1c.886G>A (p.Val296Ile)
c.943G>A (p.Val315Ile)
c.937G>A (p.Val313Ile)
11g.128839359A=CA2008286384KCNJ1c.885T= (p.Tyr295=)
c.942T= (p.Tyr314=)
c.936T= (p.Tyr312=)
11g.128839359A>CCA383243426KCNJ1c.885T>G (p.Tyr295Ter)
c.942T>G (p.Tyr314Ter)
c.936T>G (p.Tyr312Ter)
11g.128839359A>GCA477702962KCNJ1c.885T>C (p.Tyr295=)
c.942T>C (p.Tyr314=)
c.936T>C (p.Tyr312=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839359A>TCA383243430KCNJ1c.885T>A (p.Tyr295Ter)
c.942T>A (p.Tyr314Ter)
c.936T>A (p.Tyr312Ter)
11g.128839360T>ACA383243431KCNJ1c.884A>T (p.Tyr295Phe)
c.941A>T (p.Tyr314Phe)
c.935A>T (p.Tyr312Phe)
 gnomAD v4
11g.128839360T>CCA6357431KCNJ1c.884A>G (p.Tyr295Cys)
c.941A>G (p.Tyr314Cys)
c.935A>G (p.Tyr312Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839360T>GCA383243432KCNJ1c.884A>C (p.Tyr295Ser)
c.941A>C (p.Tyr314Ser)
c.935A>C (p.Tyr312Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.128839360T=CA2008286388KCNJ1c.884A= (p.Tyr295=)
c.941A= (p.Tyr314=)
c.935A= (p.Tyr312=)
11g.128839361A>CCA383243436KCNJ1c.883T>G (p.Tyr295Asp)
c.940T>G (p.Tyr314Asp)
c.934T>G (p.Tyr312Asp)
11g.128839361A>GCA383243437KCNJ1c.883T>C (p.Tyr295His)
c.940T>C (p.Tyr314His)
c.934T>C (p.Tyr312His)
11g.128839361A>TCA383243439KCNJ1c.883T>A (p.Tyr295Asn)
c.940T>A (p.Tyr314Asn)
c.934T>A (p.Tyr312Asn)
 gnomAD v4
11g.128839362G>ACA230628031KCNJ1c.882C>T (p.Ser294=)
c.939C>T (p.Ser313=)
c.933C>T (p.Ser311=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128839362G>CCA477702965KCNJ1c.882C>G (p.Ser294=)
c.939C>G (p.Ser313=)
c.933C>G (p.Ser311=)
 gnomAD v4
11g.128839362G=CA2008286391KCNJ1c.882C= (p.Ser294=)
c.939C= (p.Ser313=)
c.933C= (p.Ser311=)
11g.128839362G>TCA477702966KCNJ1c.882C>A (p.Ser294=)
c.939C>A (p.Ser313=)
c.933C>A (p.Ser311=)
11g.128839363G>ACA383243440KCNJ1c.881C>T (p.Ser294Phe)
c.938C>T (p.Ser313Phe)
c.932C>T (p.Ser311Phe)
 dbSNP gnomAD v2 COSMIC
11g.128839363G>CCA383243441KCNJ1c.881C>G (p.Ser294Cys)
c.938C>G (p.Ser313Cys)
c.932C>G (p.Ser311Cys)
11g.128839363G=CA2008286393KCNJ1c.881C= (p.Ser294=)
c.938C= (p.Ser313=)
c.932C= (p.Ser311=)
11g.128839363G>TCA383243442KCNJ1c.881C>A (p.Ser294Tyr)
c.938C>A (p.Ser313Tyr)
c.932C>A (p.Ser311Tyr)
11g.128839364A>CCA383243445KCNJ1c.880T>G (p.Ser294Ala)
c.937T>G (p.Ser313Ala)
c.931T>G (p.Ser311Ala)
11g.128839364A>GCA383243446KCNJ1c.880T>C (p.Ser294Pro)
c.937T>C (p.Ser313Pro)
c.931T>C (p.Ser311Pro)
11g.128839364A>TCA383243447KCNJ1c.880T>A (p.Ser294Thr)
c.937T>A (p.Ser313Thr)
c.931T>A (p.Ser311Thr)
 ClinVar
11g.128839365T>ACA477702968KCNJ1c.879A>T (p.Thr293=)
c.936A>T (p.Thr312=)
c.930A>T (p.Thr310=)
11g.128839365T>CCA477702969KCNJ1c.879A>G (p.Thr293=)
c.936A>G (p.Thr312=)
c.930A>G (p.Thr310=)
11g.128839365T>GCA477702970KCNJ1c.879A>C (p.Thr293=)
c.936A>C (p.Thr312=)
c.930A>C (p.Thr310=)
11g.128839366G>ACA383243448KCNJ1c.878C>T (p.Thr293Ile)
c.935C>T (p.Thr312Ile)
c.929C>T (p.Thr310Ile)
 gnomAD v4
11g.128839366G>CCA383243450KCNJ1c.878C>G (p.Thr293Arg)
c.935C>G (p.Thr312Arg)
c.929C>G (p.Thr310Arg)
11g.128839366G>TCA383243452KCNJ1c.878C>A (p.Thr293Lys)
c.935C>A (p.Thr312Lys)
c.929C>A (p.Thr310Lys)
11g.128839367T>ACA383243457KCNJ1c.877A>T (p.Thr293Ser)
c.934A>T (p.Thr312Ser)
c.928A>T (p.Thr310Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.128839367T>CCA6357432KCNJ1c.877A>G (p.Thr293Ala)
c.934A>G (p.Thr312Ala)
c.928A>G (p.Thr310Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839367T>GCA383243455KCNJ1c.877A>C (p.Thr293Pro)
c.934A>C (p.Thr312Pro)
c.928A>C (p.Thr310Pro)
11g.128839367T=CA2008286396KCNJ1c.877A= (p.Thr293=)
c.934A= (p.Thr312=)
c.928A= (p.Thr310=)
11g.128839368C>ACA477702973KCNJ1c.876G>T (p.Arg292=)
c.933G>T (p.Arg311=)
c.927G>T (p.Arg309=)
 gnomAD v4
11g.128839368C=CA2008286401KCNJ1c.876G= (p.Arg292=)
c.933G= (p.Arg311=)
c.927G= (p.Arg309=)
11g.128839368C>GCA477702974KCNJ1c.876G>C (p.Arg292=)
c.933G>C (p.Arg311=)
c.927G>C (p.Arg309=)
11g.128839368C>TCA6357433KCNJ1c.876G>A (p.Arg292=)
c.933G>A (p.Arg311=)
c.927G>A (p.Arg309=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839369C>ACA383243460KCNJ1c.875G>T (p.Arg292Leu)
c.932G>T (p.Arg311Leu)
c.926G>T (p.Arg309Leu)
11g.128839369C=CA2008286404KCNJ1c.875G= (p.Arg292=)
c.932G= (p.Arg311=)
c.926G= (p.Arg309=)
11g.128839369C>GCA383243464KCNJ1c.875G>C (p.Arg292Pro)
c.932G>C (p.Arg311Pro)
c.926G>C (p.Arg309Pro)
11g.128839369C>TCA6357434KCNJ1c.875G>A (p.Arg292Gln)
c.932G>A (p.Arg311Gln)
c.926G>A (p.Arg309Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839370G>ACA6357435KCNJ1c.874C>T (p.Arg292Trp)
c.931C>T (p.Arg311Trp)
c.925C>T (p.Arg309Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839370G>CCA383243468KCNJ1c.874C>G (p.Arg292Gly)
c.931C>G (p.Arg311Gly)
c.925C>G (p.Arg309Gly)
11g.128839370G=CA2008286406KCNJ1c.874C= (p.Arg292=)
c.931C= (p.Arg311=)
c.925C= (p.Arg309=)
11g.128839370G>TCA477702976KCNJ1c.874C>A (p.Arg292=)
c.931C>A (p.Arg311=)
c.925C>A (p.Arg309=)
 COSMIC
11g.128839371G>ACA477702977KCNJ1c.873C>T (p.Val291=)
c.930C>T (p.Val310=)
c.924C>T (p.Val308=)
 gnomAD v4
11g.128839371G>CCA477702978KCNJ1c.873C>G (p.Val291=)
c.930C>G (p.Val310=)
c.924C>G (p.Val308=)
11g.128839371G>TCA477702979KCNJ1c.873C>A (p.Val291=)
c.930C>A (p.Val310=)
c.924C>A (p.Val308=)
11g.128839372A>CCA383243469KCNJ1c.872T>G (p.Val291Gly)
c.929T>G (p.Val310Gly)
c.923T>G (p.Val308Gly)
11g.128839372A>GCA383243471KCNJ1c.872T>C (p.Val291Ala)
c.929T>C (p.Val310Ala)
c.923T>C (p.Val308Ala)
11g.128839372A>TCA383243473KCNJ1c.872T>A (p.Val291Asp)
c.929T>A (p.Val310Asp)
c.923T>A (p.Val308Asp)
11g.128839373C>ACA383243477KCNJ1c.871G>T (p.Val291Phe)
c.928G>T (p.Val310Phe)
c.922G>T (p.Val308Phe)
11g.128839373C>GCA383243479KCNJ1c.871G>C (p.Val291Leu)
c.928G>C (p.Val310Leu)
c.922G>C (p.Val308Leu)
11g.128839373C>TCA383243480KCNJ1c.871G>A (p.Val291Ile)
c.928G>A (p.Val310Ile)
c.922G>A (p.Val308Ile)
11g.128839374T>ACA383243481KCNJ1c.870A>T (p.Gln290His)
c.927A>T (p.Gln309His)
c.921A>T (p.Gln307His)
11g.128839374T>CCA477702980KCNJ1c.870A>G (p.Gln290=)
c.927A>G (p.Gln309=)
c.921A>G (p.Gln307=)
11g.128839374T>GCA383243483KCNJ1c.870A>C (p.Gln290His)
c.927A>C (p.Gln309His)
c.921A>C (p.Gln307His)

Number of alleles fetched