Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175358G>ACA400860341KCNJ2c.319G>A (p.Ala107Thr)
17g.70175358G>CCA400860340KCNJ2c.319G>C (p.Ala107Pro)
17g.70175358G>TCA400860339KCNJ2c.319G>T (p.Ala107Ser)
17g.70175359C>ACA400860342KCNJ2c.320C>A (p.Ala107Asp)
17g.70175359C>GCA400860343KCNJ2c.320C>G (p.Ala107Gly)
17g.70175359C>TCA400860344KCNJ2c.320C>T (p.Ala107Val)
17g.70175360T>ACA501700414KCNJ2c.321T>A (p.Ala107=)
17g.70175360T>CCA501700415KCNJ2c.321T>C (p.Ala107=)
ClinVar dbSNP
17g.70175360T>GCA501700417KCNJ2c.321T>G (p.Ala107=)
17g.70175360T=CA2272996536KCNJ2c.321T= (p.Ala107=)
17g.70175361C>ACA400860345KCNJ2c.322C>A (p.Leu108Met)
17g.70175361C=CA2272996537KCNJ2c.322C= (p.Leu108=)
17g.70175361C>GCA400860346KCNJ2c.322C>G (p.Leu108Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175361C>TCA293702912KCNJ2c.322C>T (p.Leu108=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175362T>ACA400860347KCNJ2c.323T>A (p.Leu108Gln)
17g.70175362T>CCA400860348KCNJ2c.323T>C (p.Leu108Pro)
17g.70175362T>GCA400860349KCNJ2c.323T>G (p.Leu108Arg)
17g.70175363G>ACA293702913KCNJ2c.324G>A (p.Leu108=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175363G>CCA501700423KCNJ2c.324G>C (p.Leu108=)
17g.70175363G=CA2272996538KCNJ2c.324G= (p.Leu108=)
17g.70175363G>TCA501700424KCNJ2c.324G>T (p.Leu108=)
17g.70175364C>ACA400860350KCNJ2c.325C>A (p.Leu109Ile)
17g.70175364C=CA2272996539KCNJ2c.325C= (p.Leu109=)
17g.70175364C>GCA400860351KCNJ2c.325C>G (p.Leu109Val)
17g.70175364C>TCA400860352KCNJ2c.325C>T (p.Leu109Phe)
dbSNP gnomAD v2 gnomAD v4
17g.70175365T>ACA400860355KCNJ2c.326T>A (p.Leu109His)
ClinVar
17g.70175365T>CCA400860354KCNJ2c.326T>C (p.Leu109Pro)
ClinVar dbSNP
17g.70175365T>GCA400860353KCNJ2c.326T>G (p.Leu109Arg)
17g.70175365T=CA2272996540KCNJ2c.326T= (p.Leu109=)
17g.70175366C>ACA501700426KCNJ2c.327C>A (p.Leu109=)
17g.70175366C=CA2272996541KCNJ2c.327C= (p.Leu109=)
17g.70175366C>GCA501700427KCNJ2c.327C>G (p.Leu109=)
gnomAD v4
17g.70175366C>TCA8738716KCNJ2c.327C>T (p.Leu109=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175367C>ACA400860357KCNJ2c.328C>A (p.His110Asn)
17g.70175367C=CA2272996542KCNJ2c.328C= (p.His110=)
17g.70175367C>GCA400860356KCNJ2c.328C>G (p.His110Asp)
17g.70175367C>TCA302032KCNJ2c.328C>T (p.His110Tyr)
ClinVar dbSNP
17g.70175368A=CA2272996543KCNJ2c.329A= (p.His110=)
17g.70175368A>CCA400860358KCNJ2c.329A>C (p.His110Pro)
17g.70175368A>GCA8738717KCNJ2c.329A>G (p.His110Arg)
dbSNP ExAC gnomAD v2
17g.70175368A>TCA400860359KCNJ2c.329A>T (p.His110Leu)
17g.70175369T>ACA400860360KCNJ2c.330T>A (p.His110Gln)
17g.70175369T>CCA501700434KCNJ2c.330T>C (p.His110=)
17g.70175369T>GCA400860361KCNJ2c.330T>G (p.His110Gln)
17g.70175370G>ACA400860362KCNJ2c.331G>A (p.Gly111Arg)
17g.70175370G>CCA400860363KCNJ2c.331G>C (p.Gly111Arg)
17g.70175370G>TCA400860364KCNJ2c.331G>T (p.Gly111Trp)
17g.70175371G>ACA400860365KCNJ2c.332G>A (p.Gly111Glu)
17g.70175371G>CCA400860366KCNJ2c.332G>C (p.Gly111Ala)
17g.70175371G>TCA400860367KCNJ2c.332G>T (p.Gly111Val)
COSMIC
17g.70175372G>ACA501700438KCNJ2c.333G>A (p.Gly111=)
ClinVar dbSNP
17g.70175372G>CCA501700439KCNJ2c.333G>C (p.Gly111=)
17g.70175372G>TCA501700440KCNJ2c.333G>T (p.Gly111=)
17g.70175373G>ACA400860370KCNJ2c.334G>A (p.Asp112Asn)
17g.70175373G>CCA400860368KCNJ2c.334G>C (p.Asp112His)
17g.70175373G>TCA400860369KCNJ2c.334G>T (p.Asp112Tyr)
ClinVar
17g.70175374A>CCA400860371KCNJ2c.335A>C (p.Asp112Ala)
17g.70175374A>GCA400860372KCNJ2c.335A>G (p.Asp112Gly)
17g.70175374A>TCA400860373KCNJ2c.335A>T (p.Asp112Val)
17g.70175375C>ACA400860374KCNJ2c.336C>A (p.Asp112Glu)
17g.70175375C>GCA400860375KCNJ2c.336C>G (p.Asp112Glu)
17g.70175375C>TCA501700447KCNJ2c.336C>T (p.Asp112=)
gnomAD v4
17g.70175376C>ACA400860376KCNJ2c.337C>A (p.Leu113Met)
17g.70175376C>GCA400860377KCNJ2c.337C>G (p.Leu113Val)
17g.70175376C>TCA501700448KCNJ2c.337C>T (p.Leu113=)
gnomAD v4
17g.70175377T>ACA400860378KCNJ2c.338T>A (p.Leu113Gln)
17g.70175377T>CCA400860379KCNJ2c.338T>C (p.Leu113Pro)
17g.70175377T>GCA400860380KCNJ2c.338T>G (p.Leu113Arg)
17g.70175378G>ACA8738718KCNJ2c.339G>A (p.Leu113=)
dbSNP ExAC
17g.70175378G>CCA501700452KCNJ2c.339G>C (p.Leu113=)
17g.70175378G=CA2272996544KCNJ2c.339G= (p.Leu113=)
17g.70175378G>TCA501700453KCNJ2c.339G>T (p.Leu113=)
17g.70175379G>ACA400860382KCNJ2c.340G>A (p.Asp114Asn)
17g.70175379G>CCA400860383KCNJ2c.340G>C (p.Asp114His)
17g.70175379G>TCA400860381KCNJ2c.340G>T (p.Asp114Tyr)
17g.70175380A=CA2272996545KCNJ2c.341A= (p.Asp114=)
17g.70175380A>CCA400860384KCNJ2c.341A>C (p.Asp114Ala)
17g.70175380A>GCA400860385KCNJ2c.341A>G (p.Asp114Gly)
ClinVar dbSNP gnomAD v4
17g.70175380A>TCA400860386KCNJ2c.341A>T (p.Asp114Val)
gnomAD v4
17g.70175381delCA2525407177KCNJ2c.342del (p.Asp114GlufsTer30)
17g.70175381T>ACA400860387KCNJ2c.342T>A (p.Asp114Glu)
17g.70175381T>CCA501700456KCNJ2c.342T>C (p.Asp114=)
17g.70175381T>GCA400860388KCNJ2c.342T>G (p.Asp114Glu)
17g.70175382G>ACA400860389KCNJ2c.343G>A (p.Ala115Thr)
17g.70175382G>CCA400860390KCNJ2c.343G>C (p.Ala115Pro)
17g.70175382G>TCA400860391KCNJ2c.343G>T (p.Ala115Ser)
17g.70175383delCA2539244539KCNJ2c.344del (p.Ala115AspfsTer29)
17g.70175383C>ACA400860392KCNJ2c.344C>A (p.Ala115Glu)
17g.70175383C=CA2272996546KCNJ2c.344C= (p.Ala115=)
17g.70175383C>GCA400860393KCNJ2c.344C>G (p.Ala115Gly)
17g.70175383C>TCA10650783KCNJ2c.344C>T (p.Ala115Val)
ClinVar dbSNP gnomAD v4
17g.70175384A>CCA501700460KCNJ2c.345A>C (p.Ala115=)
17g.70175384A>GCA501700461KCNJ2c.345A>G (p.Ala115=)
gnomAD v4
17g.70175384A>TCA501700463KCNJ2c.345A>T (p.Ala115=)
17g.70175385T>ACA400860395KCNJ2c.346T>A (p.Ser116Thr)
17g.70175385T>CCA400860396KCNJ2c.346T>C (p.Ser116Pro)
ClinVar dbSNP
17g.70175385T>GCA400860394KCNJ2c.346T>G (p.Ser116Ala)
17g.70175386C>ACA400860397KCNJ2c.347C>A (p.Ser116Tyr)
17g.70175386C>GCA400860398KCNJ2c.347C>G (p.Ser116Cys)
17g.70175386C>TCA400860399KCNJ2c.347C>T (p.Ser116Phe)
17g.70175387C>ACA501700468KCNJ2c.348C>A (p.Ser116=)
17g.70175387C>GCA501700467KCNJ2c.348C>G (p.Ser116=)
17g.70175387C>TCA501700466KCNJ2c.348C>T (p.Ser116=)
17g.70175388A>CCA400860400KCNJ2c.349A>C (p.Lys117Gln)
17g.70175388A>GCA400860401KCNJ2c.349A>G (p.Lys117Glu)
17g.70175388A>TCA400860402KCNJ2c.349A>T (p.Lys117Ter)
17g.70175390delCA2555414749KCNJ2c.351del (p.Glu118ArgfsTer26)
17g.70175389A>CCA400860403KCNJ2c.350A>C (p.Lys117Thr)
17g.70175389A>GCA400860405KCNJ2c.350A>G (p.Lys117Arg)
17g.70175389A>TCA400860404KCNJ2c.350A>T (p.Lys117Ile)
17g.70175390A>CCA400860406KCNJ2c.351A>C (p.Lys117Asn)
17g.70175390A>GCA501700473KCNJ2c.351A>G (p.Lys117=)
17g.70175390A>TCA400860407KCNJ2c.351A>T (p.Lys117Asn)
17g.70175390_70175394delCA2501509048KCNJ2c.351_355del (p.Glu118GlnfsTer19)
17g.70175391G>ACA400860408KCNJ2c.352G>A (p.Glu118Lys)
gnomAD v4
17g.70175391G>CCA400860409KCNJ2c.352G>C (p.Glu118Gln)
17g.70175391G>TCA400860410KCNJ2c.352G>T (p.Glu118Ter)
COSMIC
17g.70175392A>CCA400860412KCNJ2c.353A>C (p.Glu118Ala)
17g.70175392A>GCA400860413KCNJ2c.353A>G (p.Glu118Gly)
17g.70175392A>TCA400860411KCNJ2c.353A>T (p.Glu118Val)
17g.70175393G>ACA501700480KCNJ2c.354G>A (p.Glu118=)
dbSNP gnomAD v2 gnomAD v4
17g.70175393G>CCA8738719KCNJ2c.354G>C (p.Glu118Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175393G=CA2272996547KCNJ2c.354G= (p.Glu118=)
17g.70175393G>TCA400860414KCNJ2c.354G>T (p.Glu118Asp)
17g.70175393_70175396delCA2500676983KCNJ2c.354_357del (p.Gly119LysfsTer24)
17g.70175394G>ACA400860415KCNJ2c.355G>A (p.Gly119Ser)
17g.70175394G>CCA400860416KCNJ2c.355G>C (p.Gly119Arg)
17g.70175394G>TCA400860417KCNJ2c.355G>T (p.Gly119Cys)
17g.70175395G>ACA400860418KCNJ2c.356G>A (p.Gly119Asp)
17g.70175395G>CCA400860419KCNJ2c.356G>C (p.Gly119Ala)
17g.70175395G=CA2272996548KCNJ2c.356G= (p.Gly119=)
17g.70175395G>TCA400860420KCNJ2c.356G>T (p.Gly119Val)
dbSNP gnomAD v4
17g.70175395_70175396insAAAATAACA2518234900KCNJ2c.356_357insAAAATAA (p.Ala121Ter)
17g.70175396C>ACA501700486KCNJ2c.357C>A (p.Gly119=)
17g.70175396C>GCA501700488KCNJ2c.357C>G (p.Gly119=)
17g.70175396C>TCA501700489KCNJ2c.357C>T (p.Gly119=)
17g.70175397A>CCA400860421KCNJ2c.358A>C (p.Lys120Gln)
17g.70175397A>GCA400860422KCNJ2c.358A>G (p.Lys120Glu)
17g.70175397A>TCA400860423KCNJ2c.358A>T (p.Lys120Ter)
17g.70175398A=CA2272996549KCNJ2c.359A= (p.Lys120=)
17g.70175398A>CCA8738720KCNJ2c.359A>C (p.Lys120Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175398A>GCA400860424KCNJ2c.359A>G (p.Lys120Arg)
gnomAD v4
17g.70175398A>TCA400860425KCNJ2c.359A>T (p.Lys120Ile)
17g.70175399_70175400insTAACAACA2499519222KCNJ2c.360_361insTAACAA
17g.70175399A>CCA400860426KCNJ2c.360A>C (p.Lys120Asn)
17g.70175399A>GCA501700491KCNJ2c.360A>G (p.Lys120=)
17g.70175399A>TCA400860427KCNJ2c.360A>T (p.Lys120Asn)
17g.70175400G>ACA400860428KCNJ2c.361G>A (p.Ala121Thr)
17g.70175400G>CCA400860429KCNJ2c.361G>C (p.Ala121Pro)
17g.70175400G>TCA400860430KCNJ2c.361G>T (p.Ala121Ser)
17g.70175401C>ACA400860431KCNJ2c.362C>A (p.Ala121Asp)
17g.70175401C>GCA400860432KCNJ2c.362C>G (p.Ala121Gly)
17g.70175401C>TCA400860433KCNJ2c.362C>T (p.Ala121Val)
17g.70175401dupCA2567199791KCNJ2c.362dup (p.Cys122LeufsTer17)
17g.70175402T>ACA501700499KCNJ2c.363T>A (p.Ala121=)
gnomAD v4
17g.70175402T>CCA501700498KCNJ2c.363T>C (p.Ala121=)
17g.70175402T>GCA501700496KCNJ2c.363T>G (p.Ala121=)
17g.70175402_70175403delCA2518498541KCNJ2c.363_364del (p.Ser124ArgfsTer14)
17g.70175403T>ACA400860434KCNJ2c.364T>A (p.Cys122Ser)
17g.70175403T>CCA400860435KCNJ2c.364T>C (p.Cys122Arg)
17g.70175403T>GCA400860436KCNJ2c.364T>G (p.Cys122Gly)
17g.70175404G>ACA400860437KCNJ2c.365G>A (p.Cys122Tyr)
ClinVar dbSNP
17g.70175404G>CCA400860438KCNJ2c.365G>C (p.Cys122Ser)
17g.70175404G=CA2272996550KCNJ2c.365G= (p.Cys122=)
17g.70175404G>TCA400860439KCNJ2c.365G>T (p.Cys122Phe)
17g.70175405T>ACA400860441KCNJ2c.366T>A (p.Cys122Ter)
17g.70175405T>CCA8738721KCNJ2c.366T>C (p.Cys122=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175405T>GCA400860440KCNJ2c.366T>G (p.Cys122Trp)
17g.70175405T=CA2272996551KCNJ2c.366T= (p.Cys122=)
17g.70175406G>ACA400860442KCNJ2c.367G>A (p.Val123Met)
17g.70175406G>CCA400860443KCNJ2c.367G>C (p.Val123Leu)
17g.70175406G>TCA400860444KCNJ2c.367G>T (p.Val123Leu)
17g.70175407T>ACA400860445KCNJ2c.368T>A (p.Val123Glu)
17g.70175407T>CCA400860446KCNJ2c.368T>C (p.Val123Ala)
17g.70175407T>GCA329660KCNJ2c.368T>G (p.Val123Gly)
ClinVar dbSNP
17g.70175407T=CA2272996552KCNJ2c.368T= (p.Val123=)
17g.70175408G>ACA501700508KCNJ2c.369G>A (p.Val123=)
17g.70175408G>CCA501700513KCNJ2c.369G>C (p.Val123=)
17g.70175408G>TCA501700512KCNJ2c.369G>T (p.Val123=)
17g.70175409T>ACA400860447KCNJ2c.370T>A (p.Ser124Thr)
17g.70175409T>CCA400860448KCNJ2c.370T>C (p.Ser124Pro)
17g.70175409T>GCA400860449KCNJ2c.370T>G (p.Ser124Ala)
17g.70175410C>ACA400860450KCNJ2c.371C>A (p.Ser124Tyr)
17g.70175410C>GCA400860451KCNJ2c.371C>G (p.Ser124Cys)
ClinVar dbSNP
17g.70175410C>TCA400860452KCNJ2c.371C>T (p.Ser124Phe)
17g.70175410_70175411insTCA2525009054KCNJ2c.371_372insT (p.Glu125ArgfsTer14)
17g.70175411C>ACA501700517KCNJ2c.372C>A (p.Ser124=)
17g.70175411C=CA2272996553KCNJ2c.372C= (p.Ser124=)
17g.70175411C>GCA501700521KCNJ2c.372C>G (p.Ser124=)
17g.70175411C>TCA291733KCNJ2c.372C>T (p.Ser124=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175412G>ACA400860455KCNJ2c.373G>A (p.Glu125Lys)
ClinVar dbSNP gnomAD v4
17g.70175412G>CCA400860454KCNJ2c.373G>C (p.Glu125Gln)
17g.70175412G=CA2272996554KCNJ2c.373G= (p.Glu125=)
17g.70175412G>TCA400860453KCNJ2c.373G>T (p.Glu125Ter)
17g.70175412_70175413insCCA2569970912KCNJ2c.373_374insC (p.Glu125AlafsTer14)
17g.70175413A>CCA400860456KCNJ2c.374A>C (p.Glu125Ala)
17g.70175413A>GCA400860457KCNJ2c.374A>G (p.Glu125Gly)
17g.70175413A>TCA400860458KCNJ2c.374A>T (p.Glu125Val)
17g.70175414G>ACA501700525KCNJ2c.375G>A (p.Glu125=)
17g.70175414G>CCA400860459KCNJ2c.375G>C (p.Glu125Asp)
17g.70175414G>TCA400860460KCNJ2c.375G>T (p.Glu125Asp)
17g.70175415G>ACA400860461KCNJ2c.376G>A (p.Val126Ile)
17g.70175415G>CCA400860462KCNJ2c.376G>C (p.Val126Leu)
17g.70175415G>TCA400860463KCNJ2c.376G>T (p.Val126Phe)
17g.70175416T>ACA400860464KCNJ2c.377T>A (p.Val126Asp)
17g.70175416T>CCA400860465KCNJ2c.377T>C (p.Val126Ala)
17g.70175416T>GCA400860466KCNJ2c.377T>G (p.Val126Gly)
17g.70175417C>ACA501700529KCNJ2c.378C>A (p.Val126=)
gnomAD v4
17g.70175417C>GCA501700530KCNJ2c.378C>G (p.Val126=)
17g.70175417C>TCA501700532KCNJ2c.378C>T (p.Val126=)
17g.70175418A>CCA400860467KCNJ2c.379A>C (p.Asn127His)
17g.70175418A>GCA400860468KCNJ2c.379A>G (p.Asn127Asp)
gnomAD v4
17g.70175418A>TCA400860469KCNJ2c.379A>T (p.Asn127Tyr)
17g.70175419A>CCA400860471KCNJ2c.380A>C (p.Asn127Thr)
17g.70175419A>GCA400860472KCNJ2c.380A>G (p.Asn127Ser)
17g.70175419A>TCA400860470KCNJ2c.380A>T (p.Asn127Ile)
17g.70175420C>ACA400860473KCNJ2c.381C>A (p.Asn127Lys)
17g.70175420C>GCA400860474KCNJ2c.381C>G (p.Asn127Lys)
17g.70175420C>TCA501700536KCNJ2c.381C>T (p.Asn127=)
17g.70175421A>CCA400860475KCNJ2c.382A>C (p.Ser128Arg)
17g.70175421A>GCA400860476KCNJ2c.382A>G (p.Ser128Gly)
17g.70175421A>TCA400860477KCNJ2c.382A>T (p.Ser128Cys)
17g.70175422G>ACA400860478KCNJ2c.383G>A (p.Ser128Asn)
17g.70175422G>CCA400860479KCNJ2c.383G>C (p.Ser128Thr)
dbSNP gnomAD v3 gnomAD v4
17g.70175422G=CA2272996555KCNJ2c.383G= (p.Ser128=)
17g.70175422G>TCA400860480KCNJ2c.383G>T (p.Ser128Ile)
17g.70175423C>ACA400860481KCNJ2c.384C>A (p.Ser128Arg)
17g.70175423C>GCA400860482KCNJ2c.384C>G (p.Ser128Arg)
17g.70175423C>TCA501700537KCNJ2c.384C>T (p.Ser128=)
gnomAD v4
17g.70175424T>ACA400860483KCNJ2c.385T>A (p.Phe129Ile)
17g.70175424T>CCA400860484KCNJ2c.385T>C (p.Phe129Leu)
17g.70175424T>GCA400860485KCNJ2c.385T>G (p.Phe129Val)
17g.70175425T>ACA400860488KCNJ2c.386T>A (p.Phe129Tyr)
17g.70175425T>CCA400860487KCNJ2c.386T>C (p.Phe129Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175425T>GCA400860486KCNJ2c.386T>G (p.Phe129Cys)
gnomAD v4
17g.70175425T=CA2272996556KCNJ2c.386T= (p.Phe129=)
17g.70175426C>ACA400860489KCNJ2c.387C>A (p.Phe129Leu)
17g.70175426C=CA2272996557KCNJ2c.387C= (p.Phe129=)
17g.70175426C>GCA400860490KCNJ2c.387C>G (p.Phe129Leu)
17g.70175426C>TCA501700542KCNJ2c.387C>T (p.Phe129=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175427A=CA2272996558KCNJ2c.388A= (p.Thr130=)
17g.70175427A>CCA400860491KCNJ2c.388A>C (p.Thr130Pro)
17g.70175427A>GCA400860492KCNJ2c.388A>G (p.Thr130Ala)
ClinVar dbSNP
17g.70175427A>TCA400860493KCNJ2c.388A>T (p.Thr130Ser)
17g.70175428C>ACA400860494KCNJ2c.389C>A (p.Thr130Lys)
17g.70175428C=CA2272996559KCNJ2c.389C= (p.Thr130=)
17g.70175428C>GCA400860495KCNJ2c.389C>G (p.Thr130Arg)
17g.70175428C>TCA8738722KCNJ2c.389C>T (p.Thr130Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175429G>ACA8738723KCNJ2c.390G>A (p.Thr130=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175429G>CCA501700551KCNJ2c.390G>C (p.Thr130=)
17g.70175429G=CA2272996560KCNJ2c.390G= (p.Thr130=)
17g.70175429G>TCA501700552KCNJ2c.390G>T (p.Thr130=)
17g.70175430G>ACA400860496KCNJ2c.391G>A (p.Ala131Thr)
COSMIC
17g.70175430G>CCA400860497KCNJ2c.391G>C (p.Ala131Pro)
17g.70175430G>TCA400860498KCNJ2c.391G>T (p.Ala131Ser)
17g.70175431C>ACA400860499KCNJ2c.392C>A (p.Ala131Asp)
17g.70175431C>GCA400860500KCNJ2c.392C>G (p.Ala131Gly)
17g.70175431C>TCA400860501KCNJ2c.392C>T (p.Ala131Val)
17g.70175432T>ACA501700558KCNJ2c.393T>A (p.Ala131=)
17g.70175432T>CCA293702914KCNJ2c.393T>C (p.Ala131=)
dbSNP gnomAD v4
17g.70175432T>GCA501700559KCNJ2c.393T>G (p.Ala131=)
17g.70175432T=CA2272996561KCNJ2c.393T= (p.Ala131=)
17g.70175433G>ACA400860502KCNJ2c.394G>A (p.Ala132Thr)
ClinVar dbSNP
17g.70175433G>CCA400860503KCNJ2c.394G>C (p.Ala132Pro)
17g.70175433G=CA2272996562KCNJ2c.394G= (p.Ala132=)
17g.70175433G>TCA400860504KCNJ2c.394G>T (p.Ala132Ser)
17g.70175433_70175435dupCA302076KCNJ2c.394_396dup (p.Ala132_Phe133insAla)
ClinVar dbSNP
17g.70175434C>ACA400860505KCNJ2c.395C>A (p.Ala132Asp)
17g.70175434C=CA2272996563KCNJ2c.395C= (p.Ala132=)
17g.70175434C>GCA400860506KCNJ2c.395C>G (p.Ala132Gly)
dbSNP gnomAD v2
17g.70175434C>TCA400860507KCNJ2c.395C>T (p.Ala132Val)
17g.70175435C>ACA501700564KCNJ2c.396C>A (p.Ala132=)
17g.70175435C>GCA501700566KCNJ2c.396C>G (p.Ala132=)
17g.70175435C>TCA501700565KCNJ2c.396C>T (p.Ala132=)
17g.70175436T>ACA400860508KCNJ2c.397T>A (p.Phe133Ile)
17g.70175436T>CCA400860509KCNJ2c.397T>C (p.Phe133Leu)
17g.70175436T>GCA400860510KCNJ2c.397T>G (p.Phe133Val)
17g.70175437T>ACA400860513KCNJ2c.398T>A (p.Phe133Tyr)
17g.70175437T>CCA400860511KCNJ2c.398T>C (p.Phe133Ser)
COSMIC
17g.70175437T>GCA400860512KCNJ2c.398T>G (p.Phe133Cys)
17g.70175438C>ACA400860514KCNJ2c.399C>A (p.Phe133Leu)
17g.70175438C>GCA400860515KCNJ2c.399C>G (p.Phe133Leu)
17g.70175438C>TCA501700570KCNJ2c.399C>T (p.Phe133=)
gnomAD v4
17g.70175439C>ACA400860516KCNJ2c.400C>A (p.Leu134Ile)
dbSNP gnomAD v2 gnomAD v4
17g.70175439C=CA2272996564KCNJ2c.400C= (p.Leu134=)
17g.70175439C>GCA400860517KCNJ2c.400C>G (p.Leu134Val)
gnomAD v4
17g.70175439C>TCA400860518KCNJ2c.400C>T (p.Leu134Phe)
17g.70175440T>ACA400860519KCNJ2c.401T>A (p.Leu134His)
17g.70175440T>CCA400860521KCNJ2c.401T>C (p.Leu134Pro)
17g.70175440T>GCA400860520KCNJ2c.401T>G (p.Leu134Arg)
17g.70175441C>ACA501700572KCNJ2c.402C>A (p.Leu134=)
17g.70175441C>GCA501700574KCNJ2c.402C>G (p.Leu134=)
17g.70175441C>TCA501700575KCNJ2c.402C>T (p.Leu134=)
ClinVar gnomAD v4
17g.70175442T>ACA400860522KCNJ2c.403T>A (p.Phe135Ile)
17g.70175442T>CCA400860523KCNJ2c.403T>C (p.Phe135Leu)
17g.70175442T>GCA400860524KCNJ2c.403T>G (p.Phe135Val)
17g.70175443T>ACA400860525KCNJ2c.404T>A (p.Phe135Tyr)
17g.70175443T>CCA400860526KCNJ2c.404T>C (p.Phe135Ser)
17g.70175443T>GCA400860527KCNJ2c.404T>G (p.Phe135Cys)
17g.70175444C>ACA400860528KCNJ2c.405C>A (p.Phe135Leu)
17g.70175444C>GCA400860529KCNJ2c.405C>G (p.Phe135Leu)
17g.70175444C>TCA501700580KCNJ2c.405C>T (p.Phe135=)
gnomAD v4
17g.70175445T>ACA400860530KCNJ2c.406T>A (p.Ser136Thr)
17g.70175445T>CCA400860531KCNJ2c.406T>C (p.Ser136Pro)
17g.70175445T>GCA400860532KCNJ2c.406T>G (p.Ser136Ala)
17g.70175446C>ACA400860533KCNJ2c.407C>A (p.Ser136Tyr)
17g.70175446C=CA2272996565KCNJ2c.407C= (p.Ser136=)
17g.70175446C>GCA400860534KCNJ2c.407C>G (p.Ser136Cys)
17g.70175446C>TCA329663KCNJ2c.407C>T (p.Ser136Phe)
ClinVar dbSNP COSMIC
17g.70175446_70175448delinsCCACA2272996566KCNJ2c.407_409delinsCCA (p.Ser136=)
17g.70175446_70175448delinsTTTCA350368KCNJ2c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)
ClinVar dbSNP
17g.70175447C>ACA501700587KCNJ2c.408C>A (p.Ser136=)
17g.70175447C>GCA501700588KCNJ2c.408C>G (p.Ser136=)
17g.70175447C>TCA501700589KCNJ2c.408C>T (p.Ser136=)
COSMIC
17g.70175448A>CCA400860537KCNJ2c.409A>C (p.Ile137Leu)
17g.70175448A>GCA400860535KCNJ2c.409A>G (p.Ile137Val)
gnomAD v4
17g.70175448A>TCA400860536KCNJ2c.409A>T (p.Ile137Phe)
17g.70175449T>ACA400860538KCNJ2c.410T>A (p.Ile137Asn)
ClinVar dbSNP
17g.70175449T>CCA8738724KCNJ2c.410T>C (p.Ile137Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175449T>GCA400860539KCNJ2c.410T>G (p.Ile137Ser)
17g.70175449T=CA2272996567KCNJ2c.410T= (p.Ile137=)
17g.70175450T>ACA501700590KCNJ2c.411T>A (p.Ile137=)
17g.70175450T>CCA8738725KCNJ2c.411T>C (p.Ile137=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175450T>GCA400860540KCNJ2c.411T>G (p.Ile137Met)
17g.70175450T=CA2272996568KCNJ2c.411T= (p.Ile137=)
17g.70175451G>ACA400860541KCNJ2c.412G>A (p.Glu138Lys)
17g.70175451G>CCA400860542KCNJ2c.412G>C (p.Glu138Gln)
COSMIC
17g.70175451G>TCA400860543KCNJ2c.412G>T (p.Glu138Ter)
17g.70175452A>CCA400860544KCNJ2c.413A>C (p.Glu138Ala)
17g.70175452A>GCA400860545KCNJ2c.413A>G (p.Glu138Gly)
17g.70175452A>TCA400860546KCNJ2c.413A>T (p.Glu138Val)
17g.70175453G>ACA501700597KCNJ2c.414G>A (p.Glu138=)
17g.70175453G>CCA400860548KCNJ2c.414G>C (p.Glu138Asp)
17g.70175453G>TCA400860547KCNJ2c.414G>T (p.Glu138Asp)
17g.70175454A>CCA400860549KCNJ2c.415A>C (p.Thr139Pro)
17g.70175454A>GCA400860550KCNJ2c.415A>G (p.Thr139Ala)
17g.70175454A>TCA400860551KCNJ2c.415A>T (p.Thr139Ser)
17g.70175455C>ACA400860552KCNJ2c.416C>A (p.Thr139Asn)
17g.70175455C=CA2272996569KCNJ2c.416C= (p.Thr139=)
17g.70175455C>GCA400860553KCNJ2c.416C>G (p.Thr139Ser)
17g.70175455C>TCA16615918KCNJ2c.416C>T (p.Thr139Ile)
ClinVar dbSNP
17g.70175456C>ACA8738726KCNJ2c.417C>A (p.Thr139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175456C=CA2272996570KCNJ2c.417C= (p.Thr139=)
17g.70175456C>GCA501700602KCNJ2c.417C>G (p.Thr139=)
17g.70175456C>TCA8738727KCNJ2c.417C>T (p.Thr139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175457C>ACA400860554KCNJ2c.418C>A (p.Gln140Lys)
17g.70175457C>GCA400860555KCNJ2c.418C>G (p.Gln140Glu)
17g.70175457C>TCA400860556KCNJ2c.418C>T (p.Gln140Ter)
17g.70175458A>CCA400860557KCNJ2c.419A>C (p.Gln140Pro)
17g.70175458A>GCA400860558KCNJ2c.419A>G (p.Gln140Arg)
17g.70175458A>TCA400860559KCNJ2c.419A>T (p.Gln140Leu)

Number of alleles fetched