Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
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)
17g.70175459G>ACA501700605KCNJ2c.420G>A (p.Gln140=)
17g.70175459G>CCA400860560KCNJ2c.420G>C (p.Gln140His)
17g.70175459G>TCA400860561KCNJ2c.420G>T (p.Gln140His)
17g.70175460A>CCA400860562KCNJ2c.421A>C (p.Thr141Pro)
17g.70175460A>GCA400860563KCNJ2c.421A>G (p.Thr141Ala)
17g.70175460A>TCA400860564KCNJ2c.421A>T (p.Thr141Ser)
17g.70175461C>ACA400860565KCNJ2c.422C>A (p.Thr141Lys)
17g.70175461C>GCA400860566KCNJ2c.422C>G (p.Thr141Arg)
17g.70175461C>TCA400860567KCNJ2c.422C>T (p.Thr141Ile)
17g.70175462A>CCA501700612KCNJ2c.423A>C (p.Thr141=)
17g.70175462A>GCA501700613KCNJ2c.423A>G (p.Thr141=)
17g.70175462A>TCA501700615KCNJ2c.423A>T (p.Thr141=)
gnomAD v4
17g.70175463A>CCA400860568KCNJ2c.424A>C (p.Thr142Pro)
17g.70175463A>GCA400860569KCNJ2c.424A>G (p.Thr142Ala)
17g.70175463A>TCA400860570KCNJ2c.424A>T (p.Thr142Ser)
17g.70175464C>ACA400860571KCNJ2c.425C>A (p.Thr142Asn)
17g.70175464C>GCA400860572KCNJ2c.425C>G (p.Thr142Ser)
17g.70175464C>TCA400860573KCNJ2c.425C>T (p.Thr142Ile)
ClinVar
17g.70175465C>ACA501700623KCNJ2c.426C>A (p.Thr142=)
17g.70175465C>GCA501700622KCNJ2c.426C>G (p.Thr142=)
ClinVar
17g.70175465C>TCA501700621KCNJ2c.426C>T (p.Thr142=)
17g.70175466A>CCA400860575KCNJ2c.427A>C (p.Ile143Leu)
17g.70175466A>GCA400860576KCNJ2c.427A>G (p.Ile143Val)
gnomAD v4
17g.70175466A>TCA400860574KCNJ2c.427A>T (p.Ile143Leu)
17g.70175467T>ACA400860577KCNJ2c.428T>A (p.Ile143Lys)
17g.70175467T>CCA400860578KCNJ2c.428T>C (p.Ile143Thr)
17g.70175467T>GCA400860579KCNJ2c.428T>G (p.Ile143Arg)
17g.70175468A>CCA501700627KCNJ2c.429A>C (p.Ile143=)
17g.70175468A>GCA400860580KCNJ2c.429A>G (p.Ile143Met)
17g.70175468A>TCA501700628KCNJ2c.429A>T (p.Ile143=)
17g.70175469G>ACA329666KCNJ2c.430G>A (p.Gly144Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175469G>CCA400860582KCNJ2c.430G>C (p.Gly144Arg)
17g.70175469G=CA2272996571KCNJ2c.430G= (p.Gly144=)
17g.70175469G>TCA400860581KCNJ2c.430G>T (p.Gly144Cys)
17g.70175470G>ACA329669KCNJ2c.431G>A (p.Gly144Asp)
ClinVar dbSNP
17g.70175470G>CCA329672KCNJ2c.431G>C (p.Gly144Ala)
ClinVar dbSNP
17g.70175470G=CA2272996572KCNJ2c.431G= (p.Gly144=)
17g.70175470G>TCA400860583KCNJ2c.431G>T (p.Gly144Val)
ClinVar
17g.70175471C>ACA501700635KCNJ2c.432C>A (p.Gly144=)
dbSNP
17g.70175471C=CA2272996573KCNJ2c.432C= (p.Gly144=)
17g.70175471C>GCA501700636KCNJ2c.432C>G (p.Gly144=)
17g.70175471C>TCA501700637KCNJ2c.432C>T (p.Gly144=)
17g.70175472T>ACA400860584KCNJ2c.433T>A (p.Tyr145Asn)
17g.70175472T>CCA400860585KCNJ2c.433T>C (p.Tyr145His)
17g.70175472T>GCA400860586KCNJ2c.433T>G (p.Tyr145Asp)
17g.70175473A=CA2272996574KCNJ2c.434A= (p.Tyr145=)
17g.70175473A>CCA400860587KCNJ2c.434A>C (p.Tyr145Ser)
17g.70175473A>GCA400860589KCNJ2c.434A>G (p.Tyr145Cys)
ClinVar dbSNP
17g.70175473A>TCA400860588KCNJ2c.434A>T (p.Tyr145Phe)
COSMIC
17g.70175474T>ACA400860590KCNJ2c.435T>A (p.Tyr145Ter)
17g.70175474T>CCA8738728KCNJ2c.435T>C (p.Tyr145=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175474T>GCA400860591KCNJ2c.435T>G (p.Tyr145Ter)
17g.70175474T=CA2272996575KCNJ2c.435T= (p.Tyr145=)
17g.70175475G>ACA329675KCNJ2c.436G>A (p.Gly146Ser)
ClinVar dbSNP
17g.70175475G>CCA400860592KCNJ2c.436G>C (p.Gly146Arg)
ClinVar dbSNP
17g.70175475G=CA2272996576KCNJ2c.436G= (p.Gly146=)
17g.70175475G>TCA400860593KCNJ2c.436G>T (p.Gly146Cys)
17g.70175476G>ACA329678KCNJ2c.437G>A (p.Gly146Asp)
ClinVar dbSNP
17g.70175476G>CCA329681KCNJ2c.437G>C (p.Gly146Ala)
ClinVar dbSNP
17g.70175476G=CA2272996577KCNJ2c.437G= (p.Gly146=)
17g.70175476G>TCA400860594KCNJ2c.437G>T (p.Gly146Val)
17g.70175477T>ACA501700645KCNJ2c.438T>A (p.Gly146=)
17g.70175477T>CCA501700647KCNJ2c.438T>C (p.Gly146=)
17g.70175477T>GCA501700650KCNJ2c.438T>G (p.Gly146=)
17g.70175478T>ACA400860595KCNJ2c.439T>A (p.Phe147Ile)
17g.70175478T>CCA400860596KCNJ2c.439T>C (p.Phe147Leu)
17g.70175478T>GCA400860597KCNJ2c.439T>G (p.Phe147Val)
17g.70175479T>ACA400860598KCNJ2c.440T>A (p.Phe147Tyr)
gnomAD v4
17g.70175479T>CCA400860599KCNJ2c.440T>C (p.Phe147Ser)
17g.70175479T>GCA400860600KCNJ2c.440T>G (p.Phe147Cys)
17g.70175480C>ACA400860601KCNJ2c.441C>A (p.Phe147Leu)
17g.70175480C>GCA400860602KCNJ2c.441C>G (p.Phe147Leu)
17g.70175480C>TCA501700653KCNJ2c.441C>T (p.Phe147=)
gnomAD v4
17g.70175481A>CCA501700655KCNJ2c.442A>C (p.Arg148=)
17g.70175481A>GCA400860603KCNJ2c.442A>G (p.Arg148Gly)
17g.70175481A>TCA400860604KCNJ2c.442A>T (p.Arg148Ter)
17g.70175482G>ACA400860605KCNJ2c.443G>A (p.Arg148Lys)
17g.70175482G>CCA400860606KCNJ2c.443G>C (p.Arg148Thr)
17g.70175482G>TCA400860607KCNJ2c.443G>T (p.Arg148Ile)
COSMIC
17g.70175483A=CA2272996578KCNJ2c.444A= (p.Arg148=)
17g.70175483A>CCA400860608KCNJ2c.444A>C (p.Arg148Ser)
17g.70175483A>GCA8738729KCNJ2c.444A>G (p.Arg148=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175483A>TCA400860609KCNJ2c.444A>T (p.Arg148Ser)
17g.70175484T>ACA400860610KCNJ2c.445T>A (p.Cys149Ser)
17g.70175484T>CCA400860611KCNJ2c.445T>C (p.Cys149Arg)
17g.70175484T>GCA400860612KCNJ2c.445T>G (p.Cys149Gly)
17g.70175485G>ACA400860613KCNJ2c.446G>A (p.Cys149Tyr)
17g.70175485G>CCA400860614KCNJ2c.446G>C (p.Cys149Ser)
17g.70175485G>TCA400860615KCNJ2c.446G>T (p.Cys149Phe)
17g.70175486T>ACA400860616KCNJ2c.447T>A (p.Cys149Ter)
17g.70175486T>CCA501700669KCNJ2c.447T>C (p.Cys149=)
dbSNP
17g.70175486T>GCA400860617KCNJ2c.447T>G (p.Cys149Trp)
17g.70175486T=CA2272996579KCNJ2c.447T= (p.Cys149=)
17g.70175487G>ACA400860618KCNJ2c.448G>A (p.Val150Ile)
17g.70175487G>CCA400860619KCNJ2c.448G>C (p.Val150Leu)
17g.70175487G>TCA400860620KCNJ2c.448G>T (p.Val150Phe)
17g.70175488T>ACA400860621KCNJ2c.449T>A (p.Val150Asp)
17g.70175488T>CCA400860622KCNJ2c.449T>C (p.Val150Ala)
17g.70175488T>GCA400860623KCNJ2c.449T>G (p.Val150Gly)
17g.70175489C>ACA501700676KCNJ2c.450C>A (p.Val150=)
gnomAD v4
17g.70175489C>GCA501700674KCNJ2c.450C>G (p.Val150=)
17g.70175489C>TCA501700675KCNJ2c.450C>T (p.Val150=)
17g.70175490A>CCA400860624KCNJ2c.451A>C (p.Thr151Pro)
17g.70175490A>GCA400860625KCNJ2c.451A>G (p.Thr151Ala)
17g.70175490A>TCA400860626KCNJ2c.451A>T (p.Thr151Ser)
17g.70175491C>ACA400860627KCNJ2c.452C>A (p.Thr151Lys)
17g.70175491C=CA2272996580KCNJ2c.452C= (p.Thr151=)
17g.70175491C>GCA400860628KCNJ2c.452C>G (p.Thr151Arg)
17g.70175491C>TCA8738730KCNJ2c.452C>T (p.Thr151Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175492G>ACA8738731KCNJ2c.453G>A (p.Thr151=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175492G>CCA501700683KCNJ2c.453G>C (p.Thr151=)
ClinVar dbSNP
17g.70175492G=CA2272996581KCNJ2c.453G= (p.Thr151=)
17g.70175492G>TCA501700682KCNJ2c.453G>T (p.Thr151=)
17g.70175493G>ACA400860630KCNJ2c.454G>A (p.Asp152Asn)
17g.70175493G>CCA400860631KCNJ2c.454G>C (p.Asp152His)
17g.70175493G>TCA400860629KCNJ2c.454G>T (p.Asp152Tyr)
17g.70175494A>CCA400860632KCNJ2c.455A>C (p.Asp152Ala)
17g.70175494A>GCA400860633KCNJ2c.455A>G (p.Asp152Gly)
17g.70175494A>TCA400860634KCNJ2c.455A>T (p.Asp152Val)
17g.70175495T>ACA400860635KCNJ2c.456T>A (p.Asp152Glu)
17g.70175495T>CCA501700685KCNJ2c.456T>C (p.Asp152=)
17g.70175495T>GCA400860636KCNJ2c.456T>G (p.Asp152Glu)
dbSNP
17g.70175495T=CA2272996582KCNJ2c.456T= (p.Asp152=)
17g.70175496delCA2695226995KCNJ2c.457del (p.Glu153AsnfsTer?)
17g.70175496G>ACA400860639KCNJ2c.457G>A (p.Glu153Lys)
17g.70175496G>CCA400860637KCNJ2c.457G>C (p.Glu153Gln)
17g.70175496G>TCA400860638KCNJ2c.457G>T (p.Glu153Ter)
17g.70175497A>CCA400860640KCNJ2c.458A>C (p.Glu153Ala)
17g.70175497A>GCA400860641KCNJ2c.458A>G (p.Glu153Gly)
17g.70175497A>TCA400860642KCNJ2c.458A>T (p.Glu153Val)
17g.70175498A=CA2272996583KCNJ2c.459A= (p.Glu153=)
17g.70175498A>CCA400860643KCNJ2c.459A>C (p.Glu153Asp)
ClinVar gnomAD v4
17g.70175498A>GCA501700692KCNJ2c.459A>G (p.Glu153=)
dbSNP gnomAD v3 gnomAD v4
17g.70175498A>TCA400860644KCNJ2c.459A>T (p.Glu153Asp)
17g.70175499T>ACA400860645KCNJ2c.460T>A (p.Cys154Ser)
17g.70175499T>CCA400860647KCNJ2c.460T>C (p.Cys154Arg)
17g.70175499T>GCA400860646KCNJ2c.460T>G (p.Cys154Gly)
ClinVar dbSNP
17g.70175500G>ACA400860648KCNJ2c.461G>A (p.Cys154Tyr)
ClinVar dbSNP
17g.70175500G>CCA400860649KCNJ2c.461G>C (p.Cys154Ser)
17g.70175500G=CA2272996584KCNJ2c.461G= (p.Cys154=)
17g.70175500G>TCA329684KCNJ2c.461G>T (p.Cys154Phe)
ClinVar dbSNP
17g.70175501C>ACA400860650KCNJ2c.462C>A (p.Cys154Ter)
17g.70175501C=CA2272996585KCNJ2c.462C= (p.Cys154=)
17g.70175501C>GCA400860651KCNJ2c.462C>G (p.Cys154Trp)
17g.70175501C>TCA501700694KCNJ2c.462C>T (p.Cys154=)
dbSNP gnomAD v2 gnomAD v4
17g.70175502C>ACA400860652KCNJ2c.463C>A (p.Pro155Thr)
17g.70175502C=CA2272996586KCNJ2c.463C= (p.Pro155=)
17g.70175502C>GCA400860653KCNJ2c.463C>G (p.Pro155Ala)
17g.70175502C>TCA400860654KCNJ2c.463C>T (p.Pro155Ser)
dbSNP gnomAD v3 gnomAD v4
17g.70175503C>ACA400860655KCNJ2c.464C>A (p.Pro155Gln)
17g.70175503C>GCA400860656KCNJ2c.464C>G (p.Pro155Arg)
17g.70175503C>TCA400860657KCNJ2c.464C>T (p.Pro155Leu)
17g.70175504A=CA2272996587KCNJ2c.465A= (p.Pro155=)
17g.70175504A>CCA501700699KCNJ2c.465A>C (p.Pro155=)
dbSNP
17g.70175504A>GCA8738732KCNJ2c.465A>G (p.Pro155=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175504A>TCA501700701KCNJ2c.465A>T (p.Pro155=)
17g.70175505A=CA2272996588KCNJ2c.466A= (p.Ile156=)
17g.70175505A>CCA400860658KCNJ2c.466A>C (p.Ile156Leu)
17g.70175505A>GCA8738733KCNJ2c.466A>G (p.Ile156Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175505A>TCA400860659KCNJ2c.466A>T (p.Ile156Phe)
17g.70175506T>ACA400860660KCNJ2c.467T>A (p.Ile156Asn)
17g.70175506T>CCA293702915KCNJ2c.467T>C (p.Ile156Thr)
dbSNP
17g.70175506T>GCA400860661KCNJ2c.467T>G (p.Ile156Ser)
17g.70175506T=CA2272996589KCNJ2c.467T= (p.Ile156=)
17g.70175507T>ACA501700708KCNJ2c.468T>A (p.Ile156=)
17g.70175507T>CCA501700707KCNJ2c.468T>C (p.Ile156=)
17g.70175507T>GCA400860662KCNJ2c.468T>G (p.Ile156Met)
17g.70175508G>ACA400860663KCNJ2c.469G>A (p.Ala157Thr)
17g.70175508G>CCA400860664KCNJ2c.469G>C (p.Ala157Pro)
17g.70175508G>TCA400860665KCNJ2c.469G>T (p.Ala157Ser)
17g.70175509C>ACA400860666KCNJ2c.470C>A (p.Ala157Asp)
17g.70175509C>GCA400860667KCNJ2c.470C>G (p.Ala157Gly)
17g.70175509C>TCA400860668KCNJ2c.470C>T (p.Ala157Val)
17g.70175510T>ACA501700710KCNJ2c.471T>A (p.Ala157=)
17g.70175510T>CCA501700711KCNJ2c.471T>C (p.Ala157=)
17g.70175510T>GCA501700712KCNJ2c.471T>G (p.Ala157=)
gnomAD v4
17g.70175511G>ACA400860669KCNJ2c.472G>A (p.Val158Ile)
dbSNP
17g.70175511G>CCA400860670KCNJ2c.472G>C (p.Val158Leu)
17g.70175511G=CA2272996590KCNJ2c.472G= (p.Val158=)
17g.70175511G>TCA400860671KCNJ2c.472G>T (p.Val158Phe)
gnomAD v4
17g.70175512T>ACA400860673KCNJ2c.473T>A (p.Val158Asp)
dbSNP
17g.70175512T>CCA400860674KCNJ2c.473T>C (p.Val158Ala)
17g.70175512T>GCA400860672KCNJ2c.473T>G (p.Val158Gly)
17g.70175513T>ACA501700715KCNJ2c.474T>A (p.Val158=)
17g.70175513T>CCA501700716KCNJ2c.474T>C (p.Val158=)
gnomAD v4
17g.70175513T>GCA501700717KCNJ2c.474T>G (p.Val158=)
17g.70175514T>ACA400860675KCNJ2c.475T>A (p.Phe159Ile)
17g.70175514T>CCA400860676KCNJ2c.475T>C (p.Phe159Leu)
17g.70175514T>GCA400860677KCNJ2c.475T>G (p.Phe159Val)
17g.70175515T>ACA400860678KCNJ2c.476T>A (p.Phe159Tyr)
17g.70175515T>CCA400860679KCNJ2c.476T>C (p.Phe159Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175515T>GCA400860680KCNJ2c.476T>G (p.Phe159Cys)
17g.70175515T=CA2272996591KCNJ2c.476T= (p.Phe159=)
17g.70175516C>ACA8738734KCNJ2c.477C>A (p.Phe159Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175516C=CA2272996592KCNJ2c.477C= (p.Phe159=)
17g.70175516C>GCA400860681KCNJ2c.477C>G (p.Phe159Leu)
gnomAD v4
17g.70175516C>TCA501700723KCNJ2c.477C>T (p.Phe159=)
COSMIC
17g.70175517A=CA2272996593KCNJ2c.478A= (p.Met160=)
17g.70175517A>CCA400860682KCNJ2c.478A>C (p.Met160Leu)
17g.70175517A>GCA400860683KCNJ2c.478A>G (p.Met160Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175517A>TCA400860684KCNJ2c.478A>T (p.Met160Leu)
dbSNP gnomAD v2
17g.70175518T>ACA400860685KCNJ2c.479T>A (p.Met160Lys)
17g.70175518T>CCA400860686KCNJ2c.479T>C (p.Met160Thr)
17g.70175518T>GCA400860687KCNJ2c.479T>G (p.Met160Arg)
17g.70175519G>ACA400860688KCNJ2c.480G>A (p.Met160Ile)
17g.70175519G>CCA400860690KCNJ2c.480G>C (p.Met160Ile)
17g.70175519G>TCA400860689KCNJ2c.480G>T (p.Met160Ile)
17g.70175520G>ACA400860691KCNJ2c.481G>A (p.Val161Met)
ClinVar dbSNP
17g.70175520G>CCA400860692KCNJ2c.481G>C (p.Val161Leu)
17g.70175520G=CA2272996594KCNJ2c.481G= (p.Val161=)
17g.70175520G>TCA400860693KCNJ2c.481G>T (p.Val161Leu)
17g.70175521T>ACA400860694KCNJ2c.482T>A (p.Val161Glu)
17g.70175521T>CCA400860695KCNJ2c.482T>C (p.Val161Ala)
gnomAD v4
17g.70175521T>GCA400860696KCNJ2c.482T>G (p.Val161Gly)
17g.70175522G>ACA501700728KCNJ2c.483G>A (p.Val161=)
dbSNP
17g.70175522G>CCA501700729KCNJ2c.483G>C (p.Val161=)
gnomAD v4
17g.70175522G=CA2272996595KCNJ2c.483G= (p.Val161=)
17g.70175522G>TCA501700730KCNJ2c.483G>T (p.Val161=)
17g.70175523G>ACA400860697KCNJ2c.484G>A (p.Val162Met)
dbSNP
17g.70175523G>CCA400860698KCNJ2c.484G>C (p.Val162Leu)
17g.70175523G>TCA400860699KCNJ2c.484G>T (p.Val162Leu)
gnomAD v4
17g.70175524T>ACA400860700KCNJ2c.485T>A (p.Val162Glu)
17g.70175524T>CCA400860701KCNJ2c.485T>C (p.Val162Ala)
17g.70175524T>GCA400860702KCNJ2c.485T>G (p.Val162Gly)
17g.70175525G>ACA501700737KCNJ2c.486G>A (p.Val162=)
dbSNP
17g.70175525G>CCA501700736KCNJ2c.486G>C (p.Val162=)
17g.70175525G=CA2272996596KCNJ2c.486G= (p.Val162=)
17g.70175525G>TCA501700735KCNJ2c.486G>T (p.Val162=)
17g.70175527_70175532delCA658820863KCNJ2c.488_493del (p.Phe163_Gln164del)
17g.70175526T>ACA400860704KCNJ2c.487T>A (p.Phe163Ile)
17g.70175526T>CCA400860705KCNJ2c.487T>C (p.Phe163Leu)
17g.70175526T>GCA400860703KCNJ2c.487T>G (p.Phe163Val)
gnomAD v4
17g.70175527T>ACA400860706KCNJ2c.488T>A (p.Phe163Tyr)
17g.70175527T>CCA400860708KCNJ2c.488T>C (p.Phe163Ser)
17g.70175527T>GCA400860707KCNJ2c.488T>G (p.Phe163Cys)
17g.70175528C>ACA400860709KCNJ2c.489C>A (p.Phe163Leu)
17g.70175528C>GCA400860710KCNJ2c.489C>G (p.Phe163Leu)
17g.70175528C>TCA501700741KCNJ2c.489C>T (p.Phe163=)
ClinVar
17g.70175529C>ACA400860711KCNJ2c.490C>A (p.Gln164Lys)
17g.70175529C>GCA400860713KCNJ2c.490C>G (p.Gln164Glu)
17g.70175529C>TCA400860712KCNJ2c.490C>T (p.Gln164Ter)
17g.70175530A>CCA400860714KCNJ2c.491A>C (p.Gln164Pro)
17g.70175530A>GCA400860716KCNJ2c.491A>G (p.Gln164Arg)
17g.70175530A>TCA400860715KCNJ2c.491A>T (p.Gln164Leu)
17g.70175531G>ACA501700744KCNJ2c.492G>A (p.Gln164=)
17g.70175531G>CCA400860717KCNJ2c.492G>C (p.Gln164His)
17g.70175531G>TCA400860718KCNJ2c.492G>T (p.Gln164His)
17g.70175532T>ACA400860719KCNJ2c.493T>A (p.Ser165Thr)
17g.70175532T>CCA400860720KCNJ2c.493T>C (p.Ser165Pro)
17g.70175532T>GCA400860721KCNJ2c.493T>G (p.Ser165Ala)
17g.70175533C>ACA400860722KCNJ2c.494C>A (p.Ser165Ter)
17g.70175533C>GCA400860723KCNJ2c.494C>G (p.Ser165Ter)
17g.70175533C>TCA400860724KCNJ2c.494C>T (p.Ser165Leu)
ClinVar
17g.70175534A>CCA501700750KCNJ2c.495A>C (p.Ser165=)
17g.70175534A>GCA501700751KCNJ2c.495A>G (p.Ser165=)
17g.70175534A>TCA501700752KCNJ2c.495A>T (p.Ser165=)
17g.70175535A=CA2272996597KCNJ2c.496A= (p.Ile166=)
17g.70175535A>CCA400860727KCNJ2c.496A>C (p.Ile166Leu)
17g.70175535A>GCA400860725KCNJ2c.496A>G (p.Ile166Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175535A>TCA400860726KCNJ2c.496A>T (p.Ile166Phe)
17g.70175539_70175553dupCA2573154860KCNJ2c.500_514dup (p.Ile171_Asp172insValGlyCysIleIle)
ClinVar dbSNP
17g.70175536T>ACA400860728KCNJ2c.497T>A (p.Ile166Asn)
17g.70175536T>CCA400860729KCNJ2c.497T>C (p.Ile166Thr)
17g.70175536T>GCA400860730KCNJ2c.497T>G (p.Ile166Ser)
17g.70175537C>ACA501700753KCNJ2c.498C>A (p.Ile166=)
gnomAD v3 gnomAD v4
17g.70175537C=CA2272996598KCNJ2c.498C= (p.Ile166=)
17g.70175537C>GCA400860731KCNJ2c.498C>G (p.Ile166Met)
dbSNP
17g.70175537C>TCA8738735KCNJ2c.498C>T (p.Ile166=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175538G>ACA8738736KCNJ2c.499G>A (p.Val167Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175538G>CCA400860733KCNJ2c.499G>C (p.Val167Leu)
gnomAD v4
17g.70175538G=CA2272996599KCNJ2c.499G= (p.Val167=)
17g.70175538G>TCA400860735KCNJ2c.499G>T (p.Val167Leu)
ClinVar dbSNP gnomAD v4
17g.70175539T>ACA400860738KCNJ2c.500T>A (p.Val167Glu)
17g.70175539T>CCA400860740KCNJ2c.500T>C (p.Val167Ala)
17g.70175539T>GCA400860742KCNJ2c.500T>G (p.Val167Gly)
17g.70175540G>ACA501700764KCNJ2c.501G>A (p.Val167=)
gnomAD v4
17g.70175540G>CCA501700762KCNJ2c.501G>C (p.Val167=)
17g.70175540G>TCA501700761KCNJ2c.501G>T (p.Val167=)
17g.70175542delCA2639593900KCNJ2c.503del (p.Gly168AlafsTer?)
gnomAD v4
17g.70175541G>ACA400860743KCNJ2c.502G>A (p.Gly168Ser)
17g.70175541G>CCA400860744KCNJ2c.502G>C (p.Gly168Arg)
17g.70175541G>TCA400860747KCNJ2c.502G>T (p.Gly168Cys)
17g.70175542G>ACA400860749KCNJ2c.503G>A (p.Gly168Asp)
17g.70175542G>CCA400860750KCNJ2c.503G>C (p.Gly168Ala)
17g.70175542G>TCA400860752KCNJ2c.503G>T (p.Gly168Val)
17g.70175543C>ACA501700771KCNJ2c.504C>A (p.Gly168=)
17g.70175543C=CA2272996600KCNJ2c.504C= (p.Gly168=)
17g.70175543C>GCA501700773KCNJ2c.504C>G (p.Gly168=)
17g.70175543C>TCA501700775KCNJ2c.504C>T (p.Gly168=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175544T>ACA400860754KCNJ2c.505T>A (p.Cys169Ser)
17g.70175544T>CCA400860756KCNJ2c.505T>C (p.Cys169Arg)
17g.70175544T>GCA400860758KCNJ2c.505T>G (p.Cys169Gly)

Number of alleles fetched