Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839409C>ACA383243651KCNJ1c.835G>T (p.Asp279Tyr)
c.892G>T (p.Asp298Tyr)
c.886G>T (p.Asp296Tyr)
11g.128839409C>GCA383243654KCNJ1c.835G>C (p.Asp279His)
c.892G>C (p.Asp298His)
c.886G>C (p.Asp296His)
11g.128839409C>TCA383243657KCNJ1c.835G>A (p.Asp279Asn)
c.892G>A (p.Asp298Asn)
c.886G>A (p.Asp296Asn)
11g.128839410delCA2741219565KCNJ1c.834del (p.Asp279MetfsTer?)
c.891del (p.Asp298MetfsTer?)
c.885del (p.Asp296MetfsTer?)
11g.128839410T>ACA383243661KCNJ1c.834A>T (p.Leu278Phe)
c.891A>T (p.Leu297Phe)
c.885A>T (p.Leu295Phe)
11g.128839410T>CCA477702834KCNJ1c.834A>G (p.Leu278=)
c.891A>G (p.Leu297=)
c.885A>G (p.Leu295=)
dbSNP gnomAD v2 gnomAD v4
11g.128839410T>GCA383243663KCNJ1c.834A>C (p.Leu278Phe)
c.891A>C (p.Leu297Phe)
c.885A>C (p.Leu295Phe)
11g.128839410T=CA2008286463KCNJ1c.834A= (p.Leu278=)
c.891A= (p.Leu297=)
c.885A= (p.Leu295=)
11g.128839411A=CA2008286468KCNJ1c.833T= (p.Leu278=)
c.890T= (p.Leu297=)
c.884T= (p.Leu295=)
11g.128839411A>CCA383243665KCNJ1c.833T>G (p.Leu278Ter)
c.890T>G (p.Leu297Ter)
c.884T>G (p.Leu295Ter)
11g.128839411A>GCA383243666KCNJ1c.833T>C (p.Leu278Ser)
c.890T>C (p.Leu297Ser)
c.884T>C (p.Leu295Ser)
dbSNP gnomAD v4
11g.128839411A>TCA383243670KCNJ1c.833T>A (p.Leu278Ter)
c.890T>A (p.Leu297Ter)
c.884T>A (p.Leu295Ter)
dbSNP
11g.128839415delCA2616771381KCNJ1c.833del (p.Leu278Ter)
c.890del (p.Leu297Ter)
c.884del (p.Leu295Ter)
gnomAD v4
11g.128839412A>CCA383243673KCNJ1c.832T>G (p.Leu278Val)
c.889T>G (p.Leu297Val)
c.883T>G (p.Leu295Val)
11g.128839412A>GCA477702837KCNJ1c.832T>C (p.Leu278=)
c.889T>C (p.Leu297=)
c.883T>C (p.Leu295=)
11g.128839412A>TCA383243676KCNJ1c.832T>A (p.Leu278Ile)
c.889T>A (p.Leu297Ile)
c.883T>A (p.Leu295Ile)
11g.128839413A=CA2008286473KCNJ1c.831T= (p.Phe277=)
c.888T= (p.Phe296=)
c.882T= (p.Phe294=)
11g.128839413A>CCA383243685KCNJ1c.831T>G (p.Phe277Leu)
c.888T>G (p.Phe296Leu)
c.882T>G (p.Phe294Leu)
11g.128839413A>GCA477702838KCNJ1c.831T>C (p.Phe277=)
c.888T>C (p.Phe296=)
c.882T>C (p.Phe294=)
11g.128839413A>TCA6357446KCNJ1c.831T>A (p.Phe277Leu)
c.888T>A (p.Phe296Leu)
c.882T>A (p.Phe294Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839414A>CCA383243695KCNJ1c.830T>G (p.Phe277Cys)
c.887T>G (p.Phe296Cys)
c.881T>G (p.Phe294Cys)
11g.128839414A>GCA383243697KCNJ1c.830T>C (p.Phe277Ser)
c.887T>C (p.Phe296Ser)
c.881T>C (p.Phe294Ser)
11g.128839414A>TCA383243692KCNJ1c.830T>A (p.Phe277Tyr)
c.887T>A (p.Phe296Tyr)
c.881T>A (p.Phe294Tyr)
11g.128839415A>CCA383243712KCNJ1c.829T>G (p.Phe277Val)
c.886T>G (p.Phe296Val)
c.880T>G (p.Phe294Val)
11g.128839415A>GCA383243700KCNJ1c.829T>C (p.Phe277Leu)
c.886T>C (p.Phe296Leu)
c.880T>C (p.Phe294Leu)
11g.128839415A>TCA383243703KCNJ1c.829T>A (p.Phe277Ile)
c.886T>A (p.Phe296Ile)
c.880T>A (p.Phe294Ile)
11g.128839416C>ACA477702841KCNJ1c.828G>T (p.Val276=)
c.885G>T (p.Val295=)
c.879G>T (p.Val293=)
11g.128839416C=CA2008286476KCNJ1c.828G= (p.Val276=)
c.885G= (p.Val295=)
c.879G= (p.Val293=)
11g.128839416C>GCA477702842KCNJ1c.828G>C (p.Val276=)
c.885G>C (p.Val295=)
c.879G>C (p.Val293=)
11g.128839416C>TCA477702840KCNJ1c.828G>A (p.Val276=)
c.885G>A (p.Val295=)
c.879G>A (p.Val293=)
ClinVar dbSNP
11g.128839417A=CA2008286481KCNJ1c.827T= (p.Val276=)
c.884T= (p.Val295=)
c.878T= (p.Val293=)
11g.128839417A>CCA383243717KCNJ1c.827T>G (p.Val276Gly)
c.884T>G (p.Val295Gly)
c.878T>G (p.Val293Gly)
dbSNP
11g.128839417A>GCA6357447KCNJ1c.827T>C (p.Val276Ala)
c.884T>C (p.Val295Ala)
c.878T>C (p.Val293Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839417A>TCA383243723KCNJ1c.827T>A (p.Val276Glu)
c.884T>A (p.Val295Glu)
c.878T>A (p.Val293Glu)
11g.128839418C>ACA383243727KCNJ1c.826G>T (p.Val276Leu)
c.883G>T (p.Val295Leu)
c.877G>T (p.Val293Leu)
11g.128839418C=CA2008286483KCNJ1c.826G= (p.Val276=)
c.883G= (p.Val295=)
c.877G= (p.Val293=)
11g.128839418C>GCA383243729KCNJ1c.826G>C (p.Val276Leu)
c.883G>C (p.Val295Leu)
c.877G>C (p.Val293Leu)
11g.128839418C>TCA383243734KCNJ1c.826G>A (p.Val276Met)
c.883G>A (p.Val295Met)
c.877G>A (p.Val293Met)
dbSNP
11g.128839419C>ACA477702848KCNJ1c.825G>T (p.Val275=)
c.882G>T (p.Val294=)
c.876G>T (p.Val292=)
11g.128839419C>GCA477702846KCNJ1c.825G>C (p.Val275=)
c.882G>C (p.Val294=)
c.876G>C (p.Val292=)
11g.128839419C>TCA477702847KCNJ1c.825G>A (p.Val275=)
c.882G>A (p.Val294=)
c.876G>A (p.Val292=)
ClinVar
11g.128839420A>CCA383243736KCNJ1c.824T>G (p.Val275Gly)
c.881T>G (p.Val294Gly)
c.875T>G (p.Val292Gly)
11g.128839420A>GCA383243743KCNJ1c.824T>C (p.Val275Ala)
c.881T>C (p.Val294Ala)
c.875T>C (p.Val292Ala)
11g.128839420A>TCA383243745KCNJ1c.824T>A (p.Val275Glu)
c.881T>A (p.Val294Glu)
c.875T>A (p.Val292Glu)
11g.128839421C>ACA383243747KCNJ1c.823G>T (p.Val275Leu)
c.880G>T (p.Val294Leu)
c.874G>T (p.Val292Leu)
11g.128839421C>GCA383243749KCNJ1c.823G>C (p.Val275Leu)
c.880G>C (p.Val294Leu)
c.874G>C (p.Val292Leu)
gnomAD v4
11g.128839421C>TCA383243752KCNJ1c.823G>A (p.Val275Met)
c.880G>A (p.Val294Met)
c.874G>A (p.Val292Met)
11g.128839422T>ACA383243755KCNJ1c.822A>T (p.Leu274Phe)
c.879A>T (p.Leu293Phe)
c.873A>T (p.Leu291Phe)
11g.128839422T>CCA477702849KCNJ1c.822A>G (p.Leu274=)
c.879A>G (p.Leu293=)
c.873A>G (p.Leu291=)
11g.128839422T>GCA383243758KCNJ1c.822A>C (p.Leu274Phe)
c.879A>C (p.Leu293Phe)
c.873A>C (p.Leu291Phe)
11g.128839423A>CCA383243760KCNJ1c.821T>G (p.Leu274Ter)
c.878T>G (p.Leu293Ter)
c.872T>G (p.Leu291Ter)
11g.128839423A>GCA383243762KCNJ1c.821T>C (p.Leu274Ser)
c.878T>C (p.Leu293Ser)
c.872T>C (p.Leu291Ser)
11g.128839423A>TCA383243764KCNJ1c.821T>A (p.Leu274Ter)
c.878T>A (p.Leu293Ter)
c.872T>A (p.Leu291Ter)
11g.128839424A>CCA383243766KCNJ1c.820T>G (p.Leu274Val)
c.877T>G (p.Leu293Val)
c.871T>G (p.Leu291Val)
11g.128839424A>GCA477702852KCNJ1c.820T>C (p.Leu274=)
c.877T>C (p.Leu293=)
c.871T>C (p.Leu291=)
11g.128839424A>TCA383243768KCNJ1c.820T>A (p.Leu274Ile)
c.877T>A (p.Leu293Ile)
c.871T>A (p.Leu291Ile)
11g.128839424_128839425insACACACCCAACACACA2794083165KCNJ1c.820_821insGTGTTGGGTGTGTT (p.Leu274CysfsTer6)
c.877_878insGTGTTGGGTGTGTT (p.Leu293CysfsTer6)
c.871_872insGTGTTGGGTGTGTT (p.Leu291CysfsTer6)
11g.128839425T>ACA383243771KCNJ1c.819A>T (p.Glu273Asp)
c.876A>T (p.Glu292Asp)
c.870A>T (p.Glu290Asp)
11g.128839425T>CCA230628156KCNJ1c.819A>G (p.Glu273=)
c.876A>G (p.Glu292=)
c.870A>G (p.Glu290=)
ClinVar dbSNP gnomAD v4
11g.128839425T>GCA383243774KCNJ1c.819A>C (p.Glu273Asp)
c.876A>C (p.Glu292Asp)
c.870A>C (p.Glu290Asp)
11g.128839425T=CA2008286486KCNJ1c.819A= (p.Glu273=)
c.876A= (p.Glu292=)
c.870A= (p.Glu290=)
11g.128839426T>ACA383243776KCNJ1c.818A>T (p.Glu273Val)
c.875A>T (p.Glu292Val)
c.869A>T (p.Glu290Val)
gnomAD v4
11g.128839426T>CCA383243778KCNJ1c.818A>G (p.Glu273Gly)
c.875A>G (p.Glu292Gly)
c.869A>G (p.Glu290Gly)
11g.128839426T>GCA383243780KCNJ1c.818A>C (p.Glu273Ala)
c.875A>C (p.Glu292Ala)
c.869A>C (p.Glu290Ala)
11g.128839427C>ACA383243785KCNJ1c.817G>T (p.Glu273Ter)
c.874G>T (p.Glu292Ter)
c.868G>T (p.Glu290Ter)
11g.128839427C>GCA383243784KCNJ1c.817G>C (p.Glu273Gln)
c.874G>C (p.Glu292Gln)
c.868G>C (p.Glu290Gln)
11g.128839427C>TCA383243782KCNJ1c.817G>A (p.Glu273Lys)
c.874G>A (p.Glu292Lys)
c.868G>A (p.Glu290Lys)
11g.128839428A>CCA383243787KCNJ1c.816T>G (p.Phe272Leu)
c.873T>G (p.Phe291Leu)
c.867T>G (p.Phe289Leu)
11g.128839428A>GCA477702856KCNJ1c.816T>C (p.Phe272=)
c.873T>C (p.Phe291=)
c.867T>C (p.Phe289=)
11g.128839428A>TCA383243789KCNJ1c.816T>A (p.Phe272Leu)
c.873T>A (p.Phe291Leu)
c.867T>A (p.Phe289Leu)
11g.128839429A>CCA383243791KCNJ1c.815T>G (p.Phe272Cys)
c.872T>G (p.Phe291Cys)
c.866T>G (p.Phe289Cys)
11g.128839429A>GCA383243793KCNJ1c.815T>C (p.Phe272Ser)
c.872T>C (p.Phe291Ser)
c.866T>C (p.Phe289Ser)
11g.128839429A>TCA383243795KCNJ1c.815T>A (p.Phe272Tyr)
c.872T>A (p.Phe291Tyr)
c.866T>A (p.Phe289Tyr)
11g.128839430A>CCA383243797KCNJ1c.814T>G (p.Phe272Val)
c.871T>G (p.Phe291Val)
c.865T>G (p.Phe289Val)
11g.128839430A>GCA383243799KCNJ1c.814T>C (p.Phe272Leu)
c.871T>C (p.Phe291Leu)
c.865T>C (p.Phe289Leu)
11g.128839430A>TCA383243801KCNJ1c.814T>A (p.Phe272Ile)
c.871T>A (p.Phe291Ile)
c.865T>A (p.Phe289Ile)
11g.128839431G>ACA477702860KCNJ1c.813C>T (p.Asp271=)
c.870C>T (p.Asp290=)
c.864C>T (p.Asp288=)
11g.128839431G>CCA383243802KCNJ1c.813C>G (p.Asp271Glu)
c.870C>G (p.Asp290Glu)
c.864C>G (p.Asp288Glu)
11g.128839431G>TCA383243804KCNJ1c.813C>A (p.Asp271Glu)
c.870C>A (p.Asp290Glu)
c.864C>A (p.Asp288Glu)
11g.128839432T>ACA383243807KCNJ1c.812A>T (p.Asp271Val)
c.869A>T (p.Asp290Val)
c.863A>T (p.Asp288Val)
dbSNP gnomAD v4 COSMIC
11g.128839432T>CCA383243808KCNJ1c.812A>G (p.Asp271Gly)
c.869A>G (p.Asp290Gly)
c.863A>G (p.Asp288Gly)
dbSNP
11g.128839432T>GCA383243810KCNJ1c.812A>C (p.Asp271Ala)
c.869A>C (p.Asp290Ala)
c.863A>C (p.Asp288Ala)
11g.128839432T=CA2008286490KCNJ1c.812A= (p.Asp271=)
c.869A= (p.Asp290=)
c.863A= (p.Asp288=)
11g.128839433C>ACA383243816KCNJ1c.811G>T (p.Asp271Tyr)
c.868G>T (p.Asp290Tyr)
c.862G>T (p.Asp288Tyr)
11g.128839433C>GCA383243812KCNJ1c.811G>C (p.Asp271His)
c.868G>C (p.Asp290His)
c.862G>C (p.Asp288His)
11g.128839433C>TCA383243814KCNJ1c.811G>A (p.Asp271Asn)
c.868G>A (p.Asp290Asn)
c.862G>A (p.Asp288Asn)
COSMIC
11g.128839434C>ACA383243818KCNJ1c.810G>T (p.Gln270His)
c.867G>T (p.Gln289His)
c.861G>T (p.Gln287His)
11g.128839434C=CA2008286492KCNJ1c.810G= (p.Gln270=)
c.867G= (p.Gln289=)
c.861G= (p.Gln287=)
11g.128839434C>GCA383243819KCNJ1c.810G>C (p.Gln270His)
c.867G>C (p.Gln289His)
c.861G>C (p.Gln287His)
11g.128839434C>TCA477702866KCNJ1c.810G>A (p.Gln270=)
c.867G>A (p.Gln289=)
c.861G>A (p.Gln287=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839435T>ACA383243822KCNJ1c.809A>T (p.Gln270Leu)
c.866A>T (p.Gln289Leu)
c.860A>T (p.Gln287Leu)
11g.128839435T>CCA383243823KCNJ1c.809A>G (p.Gln270Arg)
c.866A>G (p.Gln289Arg)
c.860A>G (p.Gln287Arg)
11g.128839435T>GCA383243825KCNJ1c.809A>C (p.Gln270Pro)
c.866A>C (p.Gln289Pro)
c.860A>C (p.Gln287Pro)
11g.128839436G>ACA383243826KCNJ1c.808C>T (p.Gln270Ter)
c.865C>T (p.Gln289Ter)
c.859C>T (p.Gln287Ter)
ClinVar
11g.128839436G>CCA383243827KCNJ1c.808C>G (p.Gln270Glu)
c.865C>G (p.Gln289Glu)
c.859C>G (p.Gln287Glu)
11g.128839436G>TCA383243828KCNJ1c.808C>A (p.Gln270Lys)
c.865C>A (p.Gln289Lys)
c.859C>A (p.Gln287Lys)
gnomAD v4
11g.128839437C>ACA383243831KCNJ1c.807G>T (p.Gln269His)
c.864G>T (p.Gln288His)
c.858G>T (p.Gln286His)
11g.128839437C>GCA383243832KCNJ1c.807G>C (p.Gln269His)
c.864G>C (p.Gln288His)
c.858G>C (p.Gln286His)
11g.128839437C>TCA477702869KCNJ1c.807G>A (p.Gln269=)
c.864G>A (p.Gln288=)
c.858G>A (p.Gln286=)
ClinVar
11g.128839438T>ACA383243835KCNJ1c.806A>T (p.Gln269Leu)
c.863A>T (p.Gln288Leu)
c.857A>T (p.Gln286Leu)
11g.128839438T>CCA383243837KCNJ1c.806A>G (p.Gln269Arg)
c.863A>G (p.Gln288Arg)
c.857A>G (p.Gln286Arg)
11g.128839438T>GCA383243838KCNJ1c.806A>C (p.Gln269Pro)
c.863A>C (p.Gln288Pro)
c.857A>C (p.Gln286Pro)
11g.128839439G>ACA383243842KCNJ1c.805C>T (p.Gln269Ter)
c.862C>T (p.Gln288Ter)
c.856C>T (p.Gln286Ter)
gnomAD v4
11g.128839439G>CCA383243844KCNJ1c.805C>G (p.Gln269Glu)
c.862C>G (p.Gln288Glu)
c.856C>G (p.Gln286Glu)
11g.128839439G>TCA383243840KCNJ1c.805C>A (p.Gln269Lys)
c.862C>A (p.Gln288Lys)
c.856C>A (p.Gln286Lys)
11g.128839440G>ACA477702876KCNJ1c.804C>T (p.Leu268=)
c.861C>T (p.Leu287=)
c.855C>T (p.Leu285=)
gnomAD v4
11g.128839440G>CCA477702877KCNJ1c.804C>G (p.Leu268=)
c.861C>G (p.Leu287=)
c.855C>G (p.Leu285=)
11g.128839440G>TCA477702879KCNJ1c.804C>A (p.Leu268=)
c.861C>A (p.Leu287=)
c.855C>A (p.Leu285=)
gnomAD v4
11g.128839441A>CCA383243848KCNJ1c.803T>G (p.Leu268Arg)
c.860T>G (p.Leu287Arg)
c.854T>G (p.Leu285Arg)
11g.128839441A>GCA383243846KCNJ1c.803T>C (p.Leu268Pro)
c.860T>C (p.Leu287Pro)
c.854T>C (p.Leu285Pro)
11g.128839441A>TCA383243849KCNJ1c.803T>A (p.Leu268His)
c.860T>A (p.Leu287His)
c.854T>A (p.Leu285His)
11g.128839442G>ACA383243851KCNJ1c.802C>T (p.Leu268Phe)
c.859C>T (p.Leu287Phe)
c.853C>T (p.Leu285Phe)
gnomAD v4 COSMIC
11g.128839442G>CCA383243853KCNJ1c.802C>G (p.Leu268Val)
c.859C>G (p.Leu287Val)
c.853C>G (p.Leu285Val)
11g.128839442G>TCA383243855KCNJ1c.802C>A (p.Leu268Ile)
c.859C>A (p.Leu287Ile)
c.853C>A (p.Leu285Ile)
11g.128839443A>CCA477702889KCNJ1c.801T>G (p.Leu267=)
c.858T>G (p.Leu286=)
c.852T>G (p.Leu284=)
11g.128839443A>GCA477702891KCNJ1c.801T>C (p.Leu267=)
c.858T>C (p.Leu286=)
c.852T>C (p.Leu284=)
11g.128839443A>TCA477702892KCNJ1c.801T>A (p.Leu267=)
c.858T>A (p.Leu286=)
c.852T>A (p.Leu284=)
11g.128839444A>CCA383243857KCNJ1c.800T>G (p.Leu267Arg)
c.857T>G (p.Leu286Arg)
c.851T>G (p.Leu284Arg)
11g.128839444A>GCA383243859KCNJ1c.800T>C (p.Leu267Pro)
c.857T>C (p.Leu286Pro)
c.851T>C (p.Leu284Pro)
11g.128839444A>TCA383243861KCNJ1c.800T>A (p.Leu267His)
c.857T>A (p.Leu286His)
c.851T>A (p.Leu284His)
11g.128839445G>ACA383243862KCNJ1c.799C>T (p.Leu267Phe)
c.856C>T (p.Leu286Phe)
c.850C>T (p.Leu284Phe)
dbSNP
11g.128839445G>CCA383243864KCNJ1c.799C>G (p.Leu267Val)
c.856C>G (p.Leu286Val)
c.850C>G (p.Leu284Val)
dbSNP gnomAD v2
11g.128839445G=CA2008286494KCNJ1c.799C= (p.Leu267=)
c.856C= (p.Leu286=)
c.850C= (p.Leu284=)
11g.128839445G>TCA383243866KCNJ1c.799C>A (p.Leu267Ile)
c.856C>A (p.Leu286Ile)
c.850C>A (p.Leu284Ile)
11g.128839446G>ACA6357449KCNJ1c.798C>T (p.Thr266=)
c.855C>T (p.Thr285=)
c.849C>T (p.Thr283=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839446G>CCA477702899KCNJ1c.798C>G (p.Thr266=)
c.855C>G (p.Thr285=)
c.849C>G (p.Thr283=)
ClinVar
11g.128839446G=CA2008286496KCNJ1c.798C= (p.Thr266=)
c.855C= (p.Thr285=)
c.849C= (p.Thr283=)
11g.128839446G>TCA6357448KCNJ1c.798C>A (p.Thr266=)
c.855C>A (p.Thr285=)
c.849C>A (p.Thr283=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839447G>ACA383243870KCNJ1c.797C>T (p.Thr266Ile)
c.854C>T (p.Thr285Ile)
c.848C>T (p.Thr283Ile)
11g.128839447G>CCA383243869KCNJ1c.797C>G (p.Thr266Ser)
c.854C>G (p.Thr285Ser)
c.848C>G (p.Thr283Ser)
11g.128839447G=CA2008286499KCNJ1c.797C= (p.Thr266=)
c.854C= (p.Thr285=)
c.848C= (p.Thr283=)
11g.128839447G>TCA383243868KCNJ1c.797C>A (p.Thr266Asn)
c.854C>A (p.Thr285Asn)
c.848C>A (p.Thr283Asn)
dbSNP gnomAD v4
11g.128839448T>ACA383243871KCNJ1c.796A>T (p.Thr266Ser)
c.853A>T (p.Thr285Ser)
c.847A>T (p.Thr283Ser)
11g.128839448T>CCA6357450KCNJ1c.796A>G (p.Thr266Ala)
c.853A>G (p.Thr285Ala)
c.847A>G (p.Thr283Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839448T>GCA383243872KCNJ1c.796A>C (p.Thr266Pro)
c.853A>C (p.Thr285Pro)
c.847A>C (p.Thr283Pro)
11g.128839448T=CA2008286502KCNJ1c.796A= (p.Thr266=)
c.853A= (p.Thr285=)
c.847A= (p.Thr283=)
11g.128839449C>ACA383243873KCNJ1c.795G>T (p.Glu265Asp)
c.852G>T (p.Glu284Asp)
c.846G>T (p.Glu282Asp)
gnomAD v4
11g.128839449C>GCA383243874KCNJ1c.795G>C (p.Glu265Asp)
c.852G>C (p.Glu284Asp)
c.846G>C (p.Glu282Asp)
11g.128839449C>TCA477702904KCNJ1c.795G>A (p.Glu265=)
c.852G>A (p.Glu284=)
c.846G>A (p.Glu282=)
11g.128839450T>ACA383243875KCNJ1c.794A>T (p.Glu265Val)
c.851A>T (p.Glu284Val)
c.845A>T (p.Glu282Val)
11g.128839450T>CCA383243876KCNJ1c.794A>G (p.Glu265Gly)
c.851A>G (p.Glu284Gly)
c.845A>G (p.Glu282Gly)
11g.128839450T>GCA383243877KCNJ1c.794A>C (p.Glu265Ala)
c.851A>C (p.Glu284Ala)
c.845A>C (p.Glu282Ala)
11g.128839451C>ACA383243878KCNJ1c.793G>T (p.Glu265Ter)
c.850G>T (p.Glu284Ter)
c.844G>T (p.Glu282Ter)
dbSNP
11g.128839451C=CA2008286505KCNJ1c.793G= (p.Glu265=)
c.850G= (p.Glu284=)
c.844G= (p.Glu282=)
11g.128839451C>GCA383243879KCNJ1c.793G>C (p.Glu265Gln)
c.850G>C (p.Glu284Gln)
c.844G>C (p.Glu282Gln)
gnomAD v4
11g.128839451C>TCA383243880KCNJ1c.793G>A (p.Glu265Lys)
c.850G>A (p.Glu284Lys)
c.844G>A (p.Glu282Lys)
11g.128839452C>ACA477702909KCNJ1c.792G>T (p.Ala264=)
c.849G>T (p.Ala283=)
c.843G>T (p.Ala281=)
11g.128839452C=CA2008286512KCNJ1c.792G= (p.Ala264=)
c.849G= (p.Ala283=)
c.843G= (p.Ala281=)
11g.128839452C>GCA477702911KCNJ1c.792G>C (p.Ala264=)
c.849G>C (p.Ala283=)
c.843G>C (p.Ala281=)
11g.128839452C>TCA6357451KCNJ1c.792G>A (p.Ala264=)
c.849G>A (p.Ala283=)
c.843G>A (p.Ala281=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839453G>ACA6357452KCNJ1c.791C>T (p.Ala264Val)
c.848C>T (p.Ala283Val)
c.842C>T (p.Ala281Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839453G>CCA383243882KCNJ1c.791C>G (p.Ala264Gly)
c.848C>G (p.Ala283Gly)
c.842C>G (p.Ala281Gly)
11g.128839453G=CA2008286516KCNJ1c.791C= (p.Ala264=)
c.848C= (p.Ala283=)
c.842C= (p.Ala281=)
11g.128839453G>TCA383243881KCNJ1c.791C>A (p.Ala264Glu)
c.848C>A (p.Ala283Glu)
c.842C>A (p.Ala281Glu)
11g.128839454C>ACA383243883KCNJ1c.790G>T (p.Ala264Ser)
c.847G>T (p.Ala283Ser)
c.841G>T (p.Ala281Ser)
11g.128839454C=CA2008286519KCNJ1c.790G= (p.Ala264=)
c.847G= (p.Ala283=)
c.841G= (p.Ala281=)
11g.128839454C>GCA383243884KCNJ1c.790G>C (p.Ala264Pro)
c.847G>C (p.Ala283Pro)
c.841G>C (p.Ala281Pro)
11g.128839454C>TCA230628208KCNJ1c.790G>A (p.Ala264Thr)
c.847G>A (p.Ala283Thr)
c.841G>A (p.Ala281Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839455T>ACA477702920KCNJ1c.789A>T (p.Ala263=)
c.846A>T (p.Ala282=)
c.840A>T (p.Ala280=)
11g.128839455T>CCA477702922KCNJ1c.789A>G (p.Ala263=)
c.846A>G (p.Ala282=)
c.840A>G (p.Ala280=)
11g.128839455T>GCA477702923KCNJ1c.789A>C (p.Ala263=)
c.846A>C (p.Ala282=)
c.840A>C (p.Ala280=)
gnomAD v4 COSMIC
11g.128839456G>ACA383243885KCNJ1c.788C>T (p.Ala263Val)
c.845C>T (p.Ala282Val)
c.839C>T (p.Ala280Val)
COSMIC
11g.128839456G>CCA6357453KCNJ1c.788C>G (p.Ala263Gly)
c.845C>G (p.Ala282Gly)
c.839C>G (p.Ala280Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839456G=CA2008286522KCNJ1c.788C= (p.Ala263=)
c.845C= (p.Ala282=)
c.839C= (p.Ala280=)
11g.128839456G>TCA383243886KCNJ1c.788C>A (p.Ala263Glu)
c.845C>A (p.Ala282Glu)
c.839C>A (p.Ala280Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839457C>ACA383243887KCNJ1c.787G>T (p.Ala263Ser)
c.844G>T (p.Ala282Ser)
c.838G>T (p.Ala280Ser)
11g.128839457C>GCA383243888KCNJ1c.787G>C (p.Ala263Pro)
c.844G>C (p.Ala282Pro)
c.838G>C (p.Ala280Pro)
11g.128839457C>TCA383243889KCNJ1c.787G>A (p.Ala263Thr)
c.844G>A (p.Ala282Thr)
c.838G>A (p.Ala280Thr)
gnomAD v4
11g.128839458C>ACA383243890KCNJ1c.786G>T (p.Met262Ile)
c.843G>T (p.Met281Ile)
c.837G>T (p.Met279Ile)
11g.128839458C>GCA383243891KCNJ1c.786G>C (p.Met262Ile)
c.843G>C (p.Met281Ile)
c.837G>C (p.Met279Ile)
11g.128839458C>TCA383243892KCNJ1c.786G>A (p.Met262Ile)
c.843G>A (p.Met281Ile)
c.837G>A (p.Met279Ile)
gnomAD v4
11g.128839459A>CCA383243894KCNJ1c.785T>G (p.Met262Arg)
c.842T>G (p.Met281Arg)
c.836T>G (p.Met279Arg)
11g.128839459A>GCA383243895KCNJ1c.785T>C (p.Met262Thr)
c.842T>C (p.Met281Thr)
c.836T>C (p.Met279Thr)
11g.128839459A>TCA383243893KCNJ1c.785T>A (p.Met262Lys)
c.842T>A (p.Met281Lys)
c.836T>A (p.Met279Lys)
11g.128839460T>ACA383243896KCNJ1c.784A>T (p.Met262Leu)
c.841A>T (p.Met281Leu)
c.835A>T (p.Met279Leu)
11g.128839460T>CCA383243897KCNJ1c.784A>G (p.Met262Val)
c.841A>G (p.Met281Val)
c.835A>G (p.Met279Val)
gnomAD v4
11g.128839460T>GCA383243898KCNJ1c.784A>C (p.Met262Leu)
c.841A>C (p.Met281Leu)
c.835A>C (p.Met279Leu)
11g.128839461G>ACA477702931KCNJ1c.783C>T (p.His261=)
c.840C>T (p.His280=)
c.834C>T (p.His278=)
dbSNP gnomAD v3 gnomAD v4
11g.128839461G>CCA383243899KCNJ1c.783C>G (p.His261Gln)
c.840C>G (p.His280Gln)
c.834C>G (p.His278Gln)
11g.128839461G=CA2008286526KCNJ1c.783C= (p.His261=)
c.840C= (p.His280=)
c.834C= (p.His278=)
11g.128839461G>TCA383243900KCNJ1c.783C>A (p.His261Gln)
c.840C>A (p.His280Gln)
c.834C>A (p.His278Gln)
11g.128839462T>ACA383243903KCNJ1c.782A>T (p.His261Leu)
c.839A>T (p.His280Leu)
c.833A>T (p.His278Leu)
11g.128839462T>CCA383243902KCNJ1c.782A>G (p.His261Arg)
c.839A>G (p.His280Arg)
c.833A>G (p.His278Arg)
11g.128839462T>GCA383243901KCNJ1c.782A>C (p.His261Pro)
c.839A>C (p.His280Pro)
c.833A>C (p.His278Pro)
11g.128839463G>ACA383243904KCNJ1c.781C>T (p.His261Tyr)
c.838C>T (p.His280Tyr)
c.832C>T (p.His278Tyr)
dbSNP gnomAD v2 gnomAD v4
11g.128839463G>CCA383243905KCNJ1c.781C>G (p.His261Asp)
c.838C>G (p.His280Asp)
c.832C>G (p.His278Asp)
11g.128839463G=CA2008286529KCNJ1c.781C= (p.His261=)
c.838C= (p.His280=)
c.832C= (p.His278=)
11g.128839463G>TCA383243906KCNJ1c.781C>A (p.His261Asn)
c.838C>A (p.His280Asn)
c.832C>A (p.His278Asn)
11g.128839464G>ACA6357454KCNJ1c.780C>T (p.Phe260=)
c.837C>T (p.Phe279=)
c.831C>T (p.Phe277=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839464G>CCA383243907KCNJ1c.780C>G (p.Phe260Leu)
c.837C>G (p.Phe279Leu)
c.831C>G (p.Phe277Leu)
11g.128839464G=CA2008286533KCNJ1c.780C= (p.Phe260=)
c.837C= (p.Phe279=)
c.831C= (p.Phe277=)
11g.128839464G>TCA383243908KCNJ1c.780C>A (p.Phe260Leu)
c.837C>A (p.Phe279Leu)
c.831C>A (p.Phe277Leu)
11g.128839465A=CA2008286534KCNJ1c.779T= (p.Phe260=)
c.836T= (p.Phe279=)
c.830T= (p.Phe277=)
11g.128839465A>CCA383243911KCNJ1c.779T>G (p.Phe260Cys)
c.836T>G (p.Phe279Cys)
c.830T>G (p.Phe277Cys)
11g.128839465A>GCA383243910KCNJ1c.779T>C (p.Phe260Ser)
c.836T>C (p.Phe279Ser)
c.830T>C (p.Phe277Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839465A>TCA383243909KCNJ1c.779T>A (p.Phe260Tyr)
c.836T>A (p.Phe279Tyr)
c.830T>A (p.Phe277Tyr)
11g.128839466A>CCA383243912KCNJ1c.778T>G (p.Phe260Val)
c.835T>G (p.Phe279Val)
c.829T>G (p.Phe277Val)
11g.128839466A>GCA383243913KCNJ1c.778T>C (p.Phe260Leu)
c.835T>C (p.Phe279Leu)
c.829T>C (p.Phe277Leu)
11g.128839466A>TCA383243914KCNJ1c.778T>A (p.Phe260Ile)
c.835T>A (p.Phe279Ile)
c.829T>A (p.Phe277Ile)
COSMIC
11g.128839467G>ACA477702939KCNJ1c.777C>T (p.Phe259=)
c.834C>T (p.Phe278=)
c.828C>T (p.Phe276=)
gnomAD v4
11g.128839467G>CCA383243915KCNJ1c.777C>G (p.Phe259Leu)
c.834C>G (p.Phe278Leu)
c.828C>G (p.Phe276Leu)
11g.128839467G>TCA383243916KCNJ1c.777C>A (p.Phe259Leu)
c.834C>A (p.Phe278Leu)
c.828C>A (p.Phe276Leu)
11g.128839468A=CA2008286540KCNJ1c.776T= (p.Phe259=)
c.833T= (p.Phe278=)
c.827T= (p.Phe276=)
11g.128839468A>CCA383243919KCNJ1c.776T>G (p.Phe259Cys)
c.833T>G (p.Phe278Cys)
c.827T>G (p.Phe276Cys)
gnomAD v4
11g.128839468A>GCA383243918KCNJ1c.776T>C (p.Phe259Ser)
c.833T>C (p.Phe278Ser)
c.827T>C (p.Phe276Ser)
dbSNP
11g.128839468A>TCA383243917KCNJ1c.776T>A (p.Phe259Tyr)
c.833T>A (p.Phe278Tyr)
c.827T>A (p.Phe276Tyr)
11g.128839469A>CCA383243920KCNJ1c.775T>G (p.Phe259Val)
c.832T>G (p.Phe278Val)
c.826T>G (p.Phe276Val)
11g.128839469A>GCA383243921KCNJ1c.775T>C (p.Phe259Leu)
c.832T>C (p.Phe278Leu)
c.826T>C (p.Phe276Leu)
11g.128839469A>TCA383243922KCNJ1c.775T>A (p.Phe259Ile)
c.832T>A (p.Phe278Ile)
c.826T>A (p.Phe276Ile)
11g.128839470A>CCA477702944KCNJ1c.774T>G (p.Pro258=)
c.831T>G (p.Pro277=)
c.825T>G (p.Pro275=)
11g.128839470A>GCA477702945KCNJ1c.774T>C (p.Pro258=)
c.831T>C (p.Pro277=)
c.825T>C (p.Pro275=)
11g.128839470A>TCA477702946KCNJ1c.774T>A (p.Pro258=)
c.831T>A (p.Pro277=)
c.825T>A (p.Pro275=)
11g.128839470_128839471delinsAGCA2008286544KCNJ1c.773_774delinsCT (p.Pro258=)
c.830_831delinsCT (p.Pro277=)
c.824_825delinsCT (p.Pro275=)
11g.128839471G>ACA383243923KCNJ1c.773C>T (p.Pro258Leu)
c.830C>T (p.Pro277Leu)
c.824C>T (p.Pro275Leu)
11g.128839471G>CCA383243924KCNJ1c.773C>G (p.Pro258Arg)
c.830C>G (p.Pro277Arg)
c.824C>G (p.Pro275Arg)
dbSNP gnomAD v2 gnomAD v4
11g.128839471G=CA2008286549KCNJ1c.773C= (p.Pro258=)
c.830C= (p.Pro277=)
c.824C= (p.Pro275=)
11g.128839471G>TCA383243925KCNJ1c.773C>A (p.Pro258His)
c.830C>A (p.Pro277His)
c.824C>A (p.Pro275His)
11g.128839473delCA673266317KCNJ1c.773del (p.Pro258LeufsTer17)
c.830del (p.Pro277LeufsTer17)
c.824del (p.Pro275LeufsTer17)
dbSNP
11g.128839472G>ACA383243928KCNJ1c.772C>T (p.Pro258Ser)
c.829C>T (p.Pro277Ser)
c.823C>T (p.Pro275Ser)
11g.128839472G>CCA383243926KCNJ1c.772C>G (p.Pro258Ala)
c.829C>G (p.Pro277Ala)
c.823C>G (p.Pro275Ala)
11g.128839472G>TCA383243927KCNJ1c.772C>A (p.Pro258Thr)
c.829C>A (p.Pro277Thr)
c.823C>A (p.Pro275Thr)
11g.128839473G>ACA477702947KCNJ1c.771C>T (p.Ser257=)
c.828C>T (p.Ser276=)
c.822C>T (p.Ser274=)
11g.128839473G>CCA383243929KCNJ1c.771C>G (p.Ser257Arg)
c.828C>G (p.Ser276Arg)
c.822C>G (p.Ser274Arg)
11g.128839473G>TCA383243930KCNJ1c.771C>A (p.Ser257Arg)
c.828C>A (p.Ser276Arg)
c.822C>A (p.Ser274Arg)
11g.128839474C>ACA230628223KCNJ1c.770G>T (p.Ser257Ile)
c.827G>T (p.Ser276Ile)
c.821G>T (p.Ser274Ile)
dbSNP
11g.128839474C=CA2008286552KCNJ1c.770G= (p.Ser257=)
c.827G= (p.Ser276=)
c.821G= (p.Ser274=)
11g.128839474C>GCA383243931KCNJ1c.770G>C (p.Ser257Thr)
c.827G>C (p.Ser276Thr)
c.821G>C (p.Ser274Thr)
11g.128839474C>TCA383243932KCNJ1c.770G>A (p.Ser257Asn)
c.827G>A (p.Ser276Asn)
c.821G>A (p.Ser274Asn)
gnomAD v4
11g.128839475T>ACA383243933KCNJ1c.769A>T (p.Ser257Cys)
c.826A>T (p.Ser276Cys)
c.820A>T (p.Ser274Cys)
gnomAD v4
11g.128839475T>CCA383243934KCNJ1c.769A>G (p.Ser257Gly)
c.826A>G (p.Ser276Gly)
c.820A>G (p.Ser274Gly)
11g.128839475T>GCA383243935KCNJ1c.769A>C (p.Ser257Arg)
c.826A>C (p.Ser276Arg)
c.820A>C (p.Ser274Arg)
11g.128839476G>ACA477702953KCNJ1c.768C>T (p.Asn256=)
c.825C>T (p.Asn275=)
c.819C>T (p.Asn273=)
11g.128839476G>CCA383243936KCNJ1c.768C>G (p.Asn256Lys)
c.825C>G (p.Asn275Lys)
c.819C>G (p.Asn273Lys)
11g.128839476G>TCA383243937KCNJ1c.768C>A (p.Asn256Lys)
c.825C>A (p.Asn275Lys)
c.819C>A (p.Asn273Lys)
11g.128839477T>ACA383243938KCNJ1c.767A>T (p.Asn256Ile)
c.824A>T (p.Asn275Ile)
c.818A>T (p.Asn273Ile)
gnomAD v4
11g.128839477T>CCA383243939KCNJ1c.767A>G (p.Asn256Ser)
c.824A>G (p.Asn275Ser)
c.818A>G (p.Asn273Ser)
dbSNP gnomAD v2 gnomAD v4
11g.128839477T>GCA383243940KCNJ1c.767A>C (p.Asn256Thr)
c.824A>C (p.Asn275Thr)
c.818A>C (p.Asn273Thr)
11g.128839477T=CA2008286555KCNJ1c.767A= (p.Asn256=)
c.824A= (p.Asn275=)
c.818A= (p.Asn273=)
11g.128839478T>ACA383243941KCNJ1c.766A>T (p.Asn256Tyr)
c.823A>T (p.Asn275Tyr)
c.817A>T (p.Asn273Tyr)
11g.128839478T>CCA383243943KCNJ1c.766A>G (p.Asn256Asp)
c.823A>G (p.Asn275Asp)
c.817A>G (p.Asn273Asp)
11g.128839478T>GCA383243942KCNJ1c.766A>C (p.Asn256His)
c.823A>C (p.Asn275His)
c.817A>C (p.Asn273His)
11g.128839479G>ACA6357455KCNJ1c.765C>T (p.His255=)
c.822C>T (p.His274=)
c.816C>T (p.His272=)
dbSNP ExAC gnomAD v2
11g.128839479G>CCA383243944KCNJ1c.765C>G (p.His255Gln)
c.822C>G (p.His274Gln)
c.816C>G (p.His272Gln)
11g.128839479G=CA2008286558KCNJ1c.765C= (p.His255=)
c.822C= (p.His274=)
c.816C= (p.His272=)
11g.128839479G>TCA383243945KCNJ1c.765C>A (p.His255Gln)
c.822C>A (p.His274Gln)
c.816C>A (p.His272Gln)
gnomAD v4
11g.128839480T>ACA383243946KCNJ1c.764A>T (p.His255Leu)
c.821A>T (p.His274Leu)
c.815A>T (p.His272Leu)
11g.128839480T>CCA383243947KCNJ1c.764A>G (p.His255Arg)
c.821A>G (p.His274Arg)
c.815A>G (p.His272Arg)
gnomAD v4
11g.128839480T>GCA383243949KCNJ1c.764A>C (p.His255Pro)
c.821A>C (p.His274Pro)
c.815A>C (p.His272Pro)
11g.128839481G>ACA383243952KCNJ1c.763C>T (p.His255Tyr)
c.820C>T (p.His274Tyr)
c.814C>T (p.His272Tyr)
gnomAD v4
11g.128839481G>CCA383243950KCNJ1c.763C>G (p.His255Asp)
c.820C>G (p.His274Asp)
c.814C>G (p.His272Asp)
11g.128839481G>TCA383243951KCNJ1c.763C>A (p.His255Asn)
c.820C>A (p.His274Asn)
c.814C>A (p.His272Asn)
11g.128839482A>CCA383243953KCNJ1c.762T>G (p.Asp254Glu)
c.819T>G (p.Asp273Glu)
c.813T>G (p.Asp271Glu)
11g.128839482A>GCA477702959KCNJ1c.762T>C (p.Asp254=)
c.819T>C (p.Asp273=)
c.813T>C (p.Asp271=)
11g.128839482A>TCA383243954KCNJ1c.762T>A (p.Asp254Glu)
c.819T>A (p.Asp273Glu)
c.813T>A (p.Asp271Glu)
11g.128839483T>ACA383243955KCNJ1c.761A>T (p.Asp254Val)
c.818A>T (p.Asp273Val)
c.812A>T (p.Asp271Val)
gnomAD v4
11g.128839483T>CCA383243956KCNJ1c.761A>G (p.Asp254Gly)
c.818A>G (p.Asp273Gly)
c.812A>G (p.Asp271Gly)
11g.128839483T>GCA383243957KCNJ1c.761A>C (p.Asp254Ala)
c.818A>C (p.Asp273Ala)
c.812A>C (p.Asp271Ala)
11g.128839484C>ACA383243958KCNJ1c.760G>T (p.Asp254Tyr)
c.817G>T (p.Asp273Tyr)
c.811G>T (p.Asp271Tyr)
11g.128839484C>GCA383243960KCNJ1c.760G>C (p.Asp254His)
c.817G>C (p.Asp273His)
c.811G>C (p.Asp271His)
11g.128839484C>TCA383243959KCNJ1c.760G>A (p.Asp254Asn)
c.817G>A (p.Asp273Asn)
c.811G>A (p.Asp271Asn)
11g.128839485A>CCA383243961KCNJ1c.759T>G (p.Ile253Met)
c.816T>G (p.Ile272Met)
c.810T>G (p.Ile270Met)
gnomAD v4
11g.128839485A>GCA477702963KCNJ1c.759T>C (p.Ile253=)
c.816T>C (p.Ile272=)
c.810T>C (p.Ile270=)
11g.128839485A>TCA477702964KCNJ1c.759T>A (p.Ile253=)
c.816T>A (p.Ile272=)
c.810T>A (p.Ile270=)
11g.128839486A=CA2008286561KCNJ1c.758T= (p.Ile253=)
c.815T= (p.Ile272=)
c.809T= (p.Ile270=)
11g.128839486A>CCA383243962KCNJ1c.758T>G (p.Ile253Ser)
c.815T>G (p.Ile272Ser)
c.809T>G (p.Ile270Ser)
11g.128839486A>GCA6357456KCNJ1c.758T>C (p.Ile253Thr)
c.815T>C (p.Ile272Thr)
c.809T>C (p.Ile270Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839486A>TCA383243963KCNJ1c.758T>A (p.Ile253Asn)
c.815T>A (p.Ile272Asn)
c.809T>A (p.Ile270Asn)
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=)

Number of alleles fetched