Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.70170730_70175461del	CA1139665860	KCNJ2	c.-217+1029_422del c.-217+1873_422del	ClinVar
17	g.70175459G>A	CA501700605	KCNJ2	c.420G>A (p.Gln140=)
17	g.70175459G>C	CA400860560	KCNJ2	c.420G>C (p.Gln140His)
17	g.70175459G>T	CA400860561	KCNJ2	c.420G>T (p.Gln140His)
17	g.70175460A>C	CA400860562	KCNJ2	c.421A>C (p.Thr141Pro)
17	g.70175460A>G	CA400860563	KCNJ2	c.421A>G (p.Thr141Ala)
17	g.70175460A>T	CA400860564	KCNJ2	c.421A>T (p.Thr141Ser)
17	g.70175461C>A	CA400860565	KCNJ2	c.422C>A (p.Thr141Lys)
17	g.70175461C>G	CA400860566	KCNJ2	c.422C>G (p.Thr141Arg)
17	g.70175461C>T	CA400860567	KCNJ2	c.422C>T (p.Thr141Ile)
17	g.70175462A>C	CA501700612	KCNJ2	c.423A>C (p.Thr141=)
17	g.70175462A>G	CA501700613	KCNJ2	c.423A>G (p.Thr141=)
17	g.70175462A>T	CA501700615	KCNJ2	c.423A>T (p.Thr141=)	gnomAD v4
17	g.70175463A>C	CA400860568	KCNJ2	c.424A>C (p.Thr142Pro)
17	g.70175463A>G	CA400860569	KCNJ2	c.424A>G (p.Thr142Ala)
17	g.70175463A>T	CA400860570	KCNJ2	c.424A>T (p.Thr142Ser)
17	g.70175464C>A	CA400860571	KCNJ2	c.425C>A (p.Thr142Asn)
17	g.70175464C>G	CA400860572	KCNJ2	c.425C>G (p.Thr142Ser)
17	g.70175464C>T	CA400860573	KCNJ2	c.425C>T (p.Thr142Ile)	ClinVar
17	g.70175465C>A	CA501700623	KCNJ2	c.426C>A (p.Thr142=)
17	g.70175465C>G	CA501700622	KCNJ2	c.426C>G (p.Thr142=)	ClinVar
17	g.70175465C>T	CA501700621	KCNJ2	c.426C>T (p.Thr142=)
17	g.70175466A>C	CA400860575	KCNJ2	c.427A>C (p.Ile143Leu)
17	g.70175466A>G	CA400860576	KCNJ2	c.427A>G (p.Ile143Val)	gnomAD v4
17	g.70175466A>T	CA400860574	KCNJ2	c.427A>T (p.Ile143Leu)
17	g.70175467T>A	CA400860577	KCNJ2	c.428T>A (p.Ile143Lys)
17	g.70175467T>C	CA400860578	KCNJ2	c.428T>C (p.Ile143Thr)
17	g.70175467T>G	CA400860579	KCNJ2	c.428T>G (p.Ile143Arg)
17	g.70175468A>C	CA501700627	KCNJ2	c.429A>C (p.Ile143=)
17	g.70175468A>G	CA400860580	KCNJ2	c.429A>G (p.Ile143Met)
17	g.70175468A>T	CA501700628	KCNJ2	c.429A>T (p.Ile143=)
17	g.70175469G>A	CA329666	KCNJ2	c.430G>A (p.Gly144Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175469G>C	CA400860582	KCNJ2	c.430G>C (p.Gly144Arg)
17	g.70175469G=	CA2272996571	KCNJ2	c.430G= (p.Gly144=)
17	g.70175469G>T	CA400860581	KCNJ2	c.430G>T (p.Gly144Cys)
17	g.70175470G>A	CA329669	KCNJ2	c.431G>A (p.Gly144Asp)	ClinVar dbSNP
17	g.70175470G>C	CA329672	KCNJ2	c.431G>C (p.Gly144Ala)	ClinVar dbSNP
17	g.70175470G=	CA2272996572	KCNJ2	c.431G= (p.Gly144=)
17	g.70175470G>T	CA400860583	KCNJ2	c.431G>T (p.Gly144Val)	ClinVar
17	g.70175471C>A	CA501700635	KCNJ2	c.432C>A (p.Gly144=)	dbSNP
17	g.70175471C=	CA2272996573	KCNJ2	c.432C= (p.Gly144=)
17	g.70175471C>G	CA501700636	KCNJ2	c.432C>G (p.Gly144=)
17	g.70175471C>T	CA501700637	KCNJ2	c.432C>T (p.Gly144=)
17	g.70175472T>A	CA400860584	KCNJ2	c.433T>A (p.Tyr145Asn)
17	g.70175472T>C	CA400860585	KCNJ2	c.433T>C (p.Tyr145His)
17	g.70175472T>G	CA400860586	KCNJ2	c.433T>G (p.Tyr145Asp)
17	g.70175473A=	CA2272996574	KCNJ2	c.434A= (p.Tyr145=)
17	g.70175473A>C	CA400860587	KCNJ2	c.434A>C (p.Tyr145Ser)
17	g.70175473A>G	CA400860589	KCNJ2	c.434A>G (p.Tyr145Cys)	ClinVar dbSNP
17	g.70175473A>T	CA400860588	KCNJ2	c.434A>T (p.Tyr145Phe)	COSMIC
17	g.70175474T>A	CA400860590	KCNJ2	c.435T>A (p.Tyr145Ter)
17	g.70175474T>C	CA8738728	KCNJ2	c.435T>C (p.Tyr145=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175474T>G	CA400860591	KCNJ2	c.435T>G (p.Tyr145Ter)
17	g.70175474T=	CA2272996575	KCNJ2	c.435T= (p.Tyr145=)
17	g.70175475G>A	CA329675	KCNJ2	c.436G>A (p.Gly146Ser)	ClinVar dbSNP
17	g.70175475G>C	CA400860592	KCNJ2	c.436G>C (p.Gly146Arg)	ClinVar dbSNP
17	g.70175475G=	CA2272996576	KCNJ2	c.436G= (p.Gly146=)
17	g.70175475G>T	CA400860593	KCNJ2	c.436G>T (p.Gly146Cys)
17	g.70175476G>A	CA329678	KCNJ2	c.437G>A (p.Gly146Asp)	ClinVar dbSNP
17	g.70175476G>C	CA329681	KCNJ2	c.437G>C (p.Gly146Ala)	ClinVar dbSNP
17	g.70175476G=	CA2272996577	KCNJ2	c.437G= (p.Gly146=)
17	g.70175476G>T	CA400860594	KCNJ2	c.437G>T (p.Gly146Val)
17	g.70175477T>A	CA501700645	KCNJ2	c.438T>A (p.Gly146=)
17	g.70175477T>C	CA501700647	KCNJ2	c.438T>C (p.Gly146=)
17	g.70175477T>G	CA501700650	KCNJ2	c.438T>G (p.Gly146=)
17	g.70175478T>A	CA400860595	KCNJ2	c.439T>A (p.Phe147Ile)
17	g.70175478T>C	CA400860596	KCNJ2	c.439T>C (p.Phe147Leu)
17	g.70175478T>G	CA400860597	KCNJ2	c.439T>G (p.Phe147Val)
17	g.70175479T>A	CA400860598	KCNJ2	c.440T>A (p.Phe147Tyr)	gnomAD v4
17	g.70175479T>C	CA400860599	KCNJ2	c.440T>C (p.Phe147Ser)
17	g.70175479T>G	CA400860600	KCNJ2	c.440T>G (p.Phe147Cys)
17	g.70175480C>A	CA400860601	KCNJ2	c.441C>A (p.Phe147Leu)
17	g.70175480C>G	CA400860602	KCNJ2	c.441C>G (p.Phe147Leu)
17	g.70175480C>T	CA501700653	KCNJ2	c.441C>T (p.Phe147=)	gnomAD v4
17	g.70175481A>C	CA501700655	KCNJ2	c.442A>C (p.Arg148=)
17	g.70175481A>G	CA400860603	KCNJ2	c.442A>G (p.Arg148Gly)
17	g.70175481A>T	CA400860604	KCNJ2	c.442A>T (p.Arg148Ter)
17	g.70175482G>A	CA400860605	KCNJ2	c.443G>A (p.Arg148Lys)
17	g.70175482G>C	CA400860606	KCNJ2	c.443G>C (p.Arg148Thr)
17	g.70175482G>T	CA400860607	KCNJ2	c.443G>T (p.Arg148Ile)	COSMIC
17	g.70175483A=	CA2272996578	KCNJ2	c.444A= (p.Arg148=)
17	g.70175483A>C	CA400860608	KCNJ2	c.444A>C (p.Arg148Ser)
17	g.70175483A>G	CA8738729	KCNJ2	c.444A>G (p.Arg148=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175483A>T	CA400860609	KCNJ2	c.444A>T (p.Arg148Ser)
17	g.70175484T>A	CA400860610	KCNJ2	c.445T>A (p.Cys149Ser)
17	g.70175484T>C	CA400860611	KCNJ2	c.445T>C (p.Cys149Arg)
17	g.70175484T>G	CA400860612	KCNJ2	c.445T>G (p.Cys149Gly)
17	g.70175485G>A	CA400860613	KCNJ2	c.446G>A (p.Cys149Tyr)
17	g.70175485G>C	CA400860614	KCNJ2	c.446G>C (p.Cys149Ser)
17	g.70175485G>T	CA400860615	KCNJ2	c.446G>T (p.Cys149Phe)
17	g.70175486T>A	CA400860616	KCNJ2	c.447T>A (p.Cys149Ter)
17	g.70175486T>C	CA501700669	KCNJ2	c.447T>C (p.Cys149=)	dbSNP
17	g.70175486T>G	CA400860617	KCNJ2	c.447T>G (p.Cys149Trp)
17	g.70175486T=	CA2272996579	KCNJ2	c.447T= (p.Cys149=)
17	g.70175487G>A	CA400860618	KCNJ2	c.448G>A (p.Val150Ile)
17	g.70175487G>C	CA400860619	KCNJ2	c.448G>C (p.Val150Leu)
17	g.70175487G>T	CA400860620	KCNJ2	c.448G>T (p.Val150Phe)
17	g.70175488T>A	CA400860621	KCNJ2	c.449T>A (p.Val150Asp)
17	g.70175488T>C	CA400860622	KCNJ2	c.449T>C (p.Val150Ala)
17	g.70175488T>G	CA400860623	KCNJ2	c.449T>G (p.Val150Gly)
17	g.70175489C>A	CA501700676	KCNJ2	c.450C>A (p.Val150=)	gnomAD v4
17	g.70175489C>G	CA501700674	KCNJ2	c.450C>G (p.Val150=)
17	g.70175489C>T	CA501700675	KCNJ2	c.450C>T (p.Val150=)
17	g.70175490A>C	CA400860624	KCNJ2	c.451A>C (p.Thr151Pro)
17	g.70175490A>G	CA400860625	KCNJ2	c.451A>G (p.Thr151Ala)
17	g.70175490A>T	CA400860626	KCNJ2	c.451A>T (p.Thr151Ser)
17	g.70175491C>A	CA400860627	KCNJ2	c.452C>A (p.Thr151Lys)
17	g.70175491C=	CA2272996580	KCNJ2	c.452C= (p.Thr151=)
17	g.70175491C>G	CA400860628	KCNJ2	c.452C>G (p.Thr151Arg)
17	g.70175491C>T	CA8738730	KCNJ2	c.452C>T (p.Thr151Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.70175492G>A	CA8738731	KCNJ2	c.453G>A (p.Thr151=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.70175492G>C	CA501700683	KCNJ2	c.453G>C (p.Thr151=)	ClinVar dbSNP
17	g.70175492G=	CA2272996581	KCNJ2	c.453G= (p.Thr151=)
17	g.70175492G>T	CA501700682	KCNJ2	c.453G>T (p.Thr151=)
17	g.70175493G>A	CA400860630	KCNJ2	c.454G>A (p.Asp152Asn)
17	g.70175493G>C	CA400860631	KCNJ2	c.454G>C (p.Asp152His)
17	g.70175493G>T	CA400860629	KCNJ2	c.454G>T (p.Asp152Tyr)
17	g.70175494A>C	CA400860632	KCNJ2	c.455A>C (p.Asp152Ala)
17	g.70175494A>G	CA400860633	KCNJ2	c.455A>G (p.Asp152Gly)
17	g.70175494A>T	CA400860634	KCNJ2	c.455A>T (p.Asp152Val)
17	g.70175495T>A	CA400860635	KCNJ2	c.456T>A (p.Asp152Glu)
17	g.70175495T>C	CA501700685	KCNJ2	c.456T>C (p.Asp152=)
17	g.70175495T>G	CA400860636	KCNJ2	c.456T>G (p.Asp152Glu)	dbSNP
17	g.70175495T=	CA2272996582	KCNJ2	c.456T= (p.Asp152=)
17	g.70175496del	CA2695226995	KCNJ2	c.457del (p.Glu153AsnfsTer?)
17	g.70175496G>A	CA400860639	KCNJ2	c.457G>A (p.Glu153Lys)
17	g.70175496G>C	CA400860637	KCNJ2	c.457G>C (p.Glu153Gln)
17	g.70175496G>T	CA400860638	KCNJ2	c.457G>T (p.Glu153Ter)
17	g.70175497A>C	CA400860640	KCNJ2	c.458A>C (p.Glu153Ala)
17	g.70175497A>G	CA400860641	KCNJ2	c.458A>G (p.Glu153Gly)
17	g.70175497A>T	CA400860642	KCNJ2	c.458A>T (p.Glu153Val)
17	g.70175498A=	CA2272996583	KCNJ2	c.459A= (p.Glu153=)
17	g.70175498A>C	CA400860643	KCNJ2	c.459A>C (p.Glu153Asp)	ClinVar gnomAD v4
17	g.70175498A>G	CA501700692	KCNJ2	c.459A>G (p.Glu153=)	dbSNP gnomAD v3 gnomAD v4
17	g.70175498A>T	CA400860644	KCNJ2	c.459A>T (p.Glu153Asp)
17	g.70175499T>A	CA400860645	KCNJ2	c.460T>A (p.Cys154Ser)
17	g.70175499T>C	CA400860647	KCNJ2	c.460T>C (p.Cys154Arg)
17	g.70175499T>G	CA400860646	KCNJ2	c.460T>G (p.Cys154Gly)	ClinVar dbSNP
17	g.70175500G>A	CA400860648	KCNJ2	c.461G>A (p.Cys154Tyr)	ClinVar dbSNP
17	g.70175500G>C	CA400860649	KCNJ2	c.461G>C (p.Cys154Ser)
17	g.70175500G=	CA2272996584	KCNJ2	c.461G= (p.Cys154=)
17	g.70175500G>T	CA329684	KCNJ2	c.461G>T (p.Cys154Phe)	ClinVar dbSNP
17	g.70175501C>A	CA400860650	KCNJ2	c.462C>A (p.Cys154Ter)
17	g.70175501C=	CA2272996585	KCNJ2	c.462C= (p.Cys154=)
17	g.70175501C>G	CA400860651	KCNJ2	c.462C>G (p.Cys154Trp)
17	g.70175501C>T	CA501700694	KCNJ2	c.462C>T (p.Cys154=)	dbSNP gnomAD v2 gnomAD v4
17	g.70175502C>A	CA400860652	KCNJ2	c.463C>A (p.Pro155Thr)
17	g.70175502C=	CA2272996586	KCNJ2	c.463C= (p.Pro155=)
17	g.70175502C>G	CA400860653	KCNJ2	c.463C>G (p.Pro155Ala)
17	g.70175502C>T	CA400860654	KCNJ2	c.463C>T (p.Pro155Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.70175503C>A	CA400860655	KCNJ2	c.464C>A (p.Pro155Gln)
17	g.70175503C>G	CA400860656	KCNJ2	c.464C>G (p.Pro155Arg)
17	g.70175503C>T	CA400860657	KCNJ2	c.464C>T (p.Pro155Leu)
17	g.70175504A=	CA2272996587	KCNJ2	c.465A= (p.Pro155=)
17	g.70175504A>C	CA501700699	KCNJ2	c.465A>C (p.Pro155=)	dbSNP
17	g.70175504A>G	CA8738732	KCNJ2	c.465A>G (p.Pro155=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175504A>T	CA501700701	KCNJ2	c.465A>T (p.Pro155=)
17	g.70175505A=	CA2272996588	KCNJ2	c.466A= (p.Ile156=)
17	g.70175505A>C	CA400860658	KCNJ2	c.466A>C (p.Ile156Leu)
17	g.70175505A>G	CA8738733	KCNJ2	c.466A>G (p.Ile156Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175505A>T	CA400860659	KCNJ2	c.466A>T (p.Ile156Phe)
17	g.70175506T>A	CA400860660	KCNJ2	c.467T>A (p.Ile156Asn)
17	g.70175506T>C	CA293702915	KCNJ2	c.467T>C (p.Ile156Thr)	dbSNP
17	g.70175506T>G	CA400860661	KCNJ2	c.467T>G (p.Ile156Ser)
17	g.70175506T=	CA2272996589	KCNJ2	c.467T= (p.Ile156=)
17	g.70175507T>A	CA501700708	KCNJ2	c.468T>A (p.Ile156=)
17	g.70175507T>C	CA501700707	KCNJ2	c.468T>C (p.Ile156=)
17	g.70175507T>G	CA400860662	KCNJ2	c.468T>G (p.Ile156Met)
17	g.70175508G>A	CA400860663	KCNJ2	c.469G>A (p.Ala157Thr)
17	g.70175508G>C	CA400860664	KCNJ2	c.469G>C (p.Ala157Pro)
17	g.70175508G>T	CA400860665	KCNJ2	c.469G>T (p.Ala157Ser)
17	g.70175509C>A	CA400860666	KCNJ2	c.470C>A (p.Ala157Asp)
17	g.70175509C>G	CA400860667	KCNJ2	c.470C>G (p.Ala157Gly)
17	g.70175509C>T	CA400860668	KCNJ2	c.470C>T (p.Ala157Val)
17	g.70175510T>A	CA501700710	KCNJ2	c.471T>A (p.Ala157=)
17	g.70175510T>C	CA501700711	KCNJ2	c.471T>C (p.Ala157=)
17	g.70175510T>G	CA501700712	KCNJ2	c.471T>G (p.Ala157=)	gnomAD v4
17	g.70175511G>A	CA400860669	KCNJ2	c.472G>A (p.Val158Ile)	dbSNP
17	g.70175511G>C	CA400860670	KCNJ2	c.472G>C (p.Val158Leu)
17	g.70175511G=	CA2272996590	KCNJ2	c.472G= (p.Val158=)
17	g.70175511G>T	CA400860671	KCNJ2	c.472G>T (p.Val158Phe)	gnomAD v4
17	g.70175512T>A	CA400860673	KCNJ2	c.473T>A (p.Val158Asp)	dbSNP
17	g.70175512T>C	CA400860674	KCNJ2	c.473T>C (p.Val158Ala)
17	g.70175512T>G	CA400860672	KCNJ2	c.473T>G (p.Val158Gly)
17	g.70175513T>A	CA501700715	KCNJ2	c.474T>A (p.Val158=)
17	g.70175513T>C	CA501700716	KCNJ2	c.474T>C (p.Val158=)	gnomAD v4
17	g.70175513T>G	CA501700717	KCNJ2	c.474T>G (p.Val158=)
17	g.70175514T>A	CA400860675	KCNJ2	c.475T>A (p.Phe159Ile)
17	g.70175514T>C	CA400860676	KCNJ2	c.475T>C (p.Phe159Leu)
17	g.70175514T>G	CA400860677	KCNJ2	c.475T>G (p.Phe159Val)
17	g.70175515T>A	CA400860678	KCNJ2	c.476T>A (p.Phe159Tyr)
17	g.70175515T>C	CA400860679	KCNJ2	c.476T>C (p.Phe159Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175515T>G	CA400860680	KCNJ2	c.476T>G (p.Phe159Cys)
17	g.70175515T=	CA2272996591	KCNJ2	c.476T= (p.Phe159=)
17	g.70175516C>A	CA8738734	KCNJ2	c.477C>A (p.Phe159Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175516C=	CA2272996592	KCNJ2	c.477C= (p.Phe159=)
17	g.70175516C>G	CA400860681	KCNJ2	c.477C>G (p.Phe159Leu)	gnomAD v4
17	g.70175516C>T	CA501700723	KCNJ2	c.477C>T (p.Phe159=)	COSMIC
17	g.70175517A=	CA2272996593	KCNJ2	c.478A= (p.Met160=)
17	g.70175517A>C	CA400860682	KCNJ2	c.478A>C (p.Met160Leu)
17	g.70175517A>G	CA400860683	KCNJ2	c.478A>G (p.Met160Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175517A>T	CA400860684	KCNJ2	c.478A>T (p.Met160Leu)	dbSNP gnomAD v2
17	g.70175518T>A	CA400860685	KCNJ2	c.479T>A (p.Met160Lys)
17	g.70175518T>C	CA400860686	KCNJ2	c.479T>C (p.Met160Thr)
17	g.70175518T>G	CA400860687	KCNJ2	c.479T>G (p.Met160Arg)
17	g.70175519G>A	CA400860688	KCNJ2	c.480G>A (p.Met160Ile)
17	g.70175519G>C	CA400860690	KCNJ2	c.480G>C (p.Met160Ile)
17	g.70175519G>T	CA400860689	KCNJ2	c.480G>T (p.Met160Ile)
17	g.70175520G>A	CA400860691	KCNJ2	c.481G>A (p.Val161Met)	ClinVar dbSNP
17	g.70175520G>C	CA400860692	KCNJ2	c.481G>C (p.Val161Leu)
17	g.70175520G=	CA2272996594	KCNJ2	c.481G= (p.Val161=)
17	g.70175520G>T	CA400860693	KCNJ2	c.481G>T (p.Val161Leu)
17	g.70175521T>A	CA400860694	KCNJ2	c.482T>A (p.Val161Glu)
17	g.70175521T>C	CA400860695	KCNJ2	c.482T>C (p.Val161Ala)	gnomAD v4
17	g.70175521T>G	CA400860696	KCNJ2	c.482T>G (p.Val161Gly)
17	g.70175522G>A	CA501700728	KCNJ2	c.483G>A (p.Val161=)	dbSNP
17	g.70175522G>C	CA501700729	KCNJ2	c.483G>C (p.Val161=)	gnomAD v4
17	g.70175522G=	CA2272996595	KCNJ2	c.483G= (p.Val161=)
17	g.70175522G>T	CA501700730	KCNJ2	c.483G>T (p.Val161=)
17	g.70175523G>A	CA400860697	KCNJ2	c.484G>A (p.Val162Met)	dbSNP
17	g.70175523G>C	CA400860698	KCNJ2	c.484G>C (p.Val162Leu)
17	g.70175523G>T	CA400860699	KCNJ2	c.484G>T (p.Val162Leu)	gnomAD v4
17	g.70175524T>A	CA400860700	KCNJ2	c.485T>A (p.Val162Glu)
17	g.70175524T>C	CA400860701	KCNJ2	c.485T>C (p.Val162Ala)
17	g.70175524T>G	CA400860702	KCNJ2	c.485T>G (p.Val162Gly)
17	g.70175525G>A	CA501700737	KCNJ2	c.486G>A (p.Val162=)	dbSNP
17	g.70175525G>C	CA501700736	KCNJ2	c.486G>C (p.Val162=)
17	g.70175525G=	CA2272996596	KCNJ2	c.486G= (p.Val162=)
17	g.70175525G>T	CA501700735	KCNJ2	c.486G>T (p.Val162=)
17	g.70175527_70175532del	CA658820863	KCNJ2	c.488_493del (p.Phe163_Gln164del)
17	g.70175526T>A	CA400860704	KCNJ2	c.487T>A (p.Phe163Ile)
17	g.70175526T>C	CA400860705	KCNJ2	c.487T>C (p.Phe163Leu)
17	g.70175526T>G	CA400860703	KCNJ2	c.487T>G (p.Phe163Val)	gnomAD v4
17	g.70175527T>A	CA400860706	KCNJ2	c.488T>A (p.Phe163Tyr)
17	g.70175527T>C	CA400860708	KCNJ2	c.488T>C (p.Phe163Ser)
17	g.70175527T>G	CA400860707	KCNJ2	c.488T>G (p.Phe163Cys)
17	g.70175528C>A	CA400860709	KCNJ2	c.489C>A (p.Phe163Leu)
17	g.70175528C>G	CA400860710	KCNJ2	c.489C>G (p.Phe163Leu)
17	g.70175528C>T	CA501700741	KCNJ2	c.489C>T (p.Phe163=)	ClinVar
17	g.70175529C>A	CA400860711	KCNJ2	c.490C>A (p.Gln164Lys)
17	g.70175529C>G	CA400860713	KCNJ2	c.490C>G (p.Gln164Glu)
17	g.70175529C>T	CA400860712	KCNJ2	c.490C>T (p.Gln164Ter)
17	g.70175530A>C	CA400860714	KCNJ2	c.491A>C (p.Gln164Pro)
17	g.70175530A>G	CA400860716	KCNJ2	c.491A>G (p.Gln164Arg)
17	g.70175530A>T	CA400860715	KCNJ2	c.491A>T (p.Gln164Leu)
17	g.70175531G>A	CA501700744	KCNJ2	c.492G>A (p.Gln164=)
17	g.70175531G>C	CA400860717	KCNJ2	c.492G>C (p.Gln164His)
17	g.70175531G>T	CA400860718	KCNJ2	c.492G>T (p.Gln164His)
17	g.70175532T>A	CA400860719	KCNJ2	c.493T>A (p.Ser165Thr)
17	g.70175532T>C	CA400860720	KCNJ2	c.493T>C (p.Ser165Pro)
17	g.70175532T>G	CA400860721	KCNJ2	c.493T>G (p.Ser165Ala)
17	g.70175533C>A	CA400860722	KCNJ2	c.494C>A (p.Ser165Ter)
17	g.70175533C>G	CA400860723	KCNJ2	c.494C>G (p.Ser165Ter)
17	g.70175533C>T	CA400860724	KCNJ2	c.494C>T (p.Ser165Leu)	ClinVar
17	g.70175534A>C	CA501700750	KCNJ2	c.495A>C (p.Ser165=)
17	g.70175534A>G	CA501700751	KCNJ2	c.495A>G (p.Ser165=)
17	g.70175534A>T	CA501700752	KCNJ2	c.495A>T (p.Ser165=)
17	g.70175535A=	CA2272996597	KCNJ2	c.496A= (p.Ile166=)
17	g.70175535A>C	CA400860727	KCNJ2	c.496A>C (p.Ile166Leu)
17	g.70175535A>G	CA400860725	KCNJ2	c.496A>G (p.Ile166Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175535A>T	CA400860726	KCNJ2	c.496A>T (p.Ile166Phe)
17	g.70175539_70175553dup	CA2573154860	KCNJ2	c.500_514dup (p.Ile171_Asp172insValGlyCysIleIle)	ClinVar dbSNP
17	g.70175536T>A	CA400860728	KCNJ2	c.497T>A (p.Ile166Asn)
17	g.70175536T>C	CA400860729	KCNJ2	c.497T>C (p.Ile166Thr)
17	g.70175536T>G	CA400860730	KCNJ2	c.497T>G (p.Ile166Ser)
17	g.70175537C>A	CA501700753	KCNJ2	c.498C>A (p.Ile166=)	gnomAD v3 gnomAD v4
17	g.70175537C=	CA2272996598	KCNJ2	c.498C= (p.Ile166=)
17	g.70175537C>G	CA400860731	KCNJ2	c.498C>G (p.Ile166Met)	dbSNP
17	g.70175537C>T	CA8738735	KCNJ2	c.498C>T (p.Ile166=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175538G>A	CA8738736	KCNJ2	c.499G>A (p.Val167Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.70175538G>C	CA400860733	KCNJ2	c.499G>C (p.Val167Leu)	gnomAD v4
17	g.70175538G=	CA2272996599	KCNJ2	c.499G= (p.Val167=)
17	g.70175538G>T	CA400860735	KCNJ2	c.499G>T (p.Val167Leu)	ClinVar dbSNP gnomAD v4
17	g.70175539T>A	CA400860738	KCNJ2	c.500T>A (p.Val167Glu)
17	g.70175539T>C	CA400860740	KCNJ2	c.500T>C (p.Val167Ala)
17	g.70175539T>G	CA400860742	KCNJ2	c.500T>G (p.Val167Gly)
17	g.70175540G>A	CA501700764	KCNJ2	c.501G>A (p.Val167=)	gnomAD v4
17	g.70175540G>C	CA501700762	KCNJ2	c.501G>C (p.Val167=)
17	g.70175540G>T	CA501700761	KCNJ2	c.501G>T (p.Val167=)
17	g.70175542del	CA2639593900	KCNJ2	c.503del (p.Gly168AlafsTer?)	gnomAD v4
17	g.70175541G>A	CA400860743	KCNJ2	c.502G>A (p.Gly168Ser)
17	g.70175541G>C	CA400860744	KCNJ2	c.502G>C (p.Gly168Arg)
17	g.70175541G>T	CA400860747	KCNJ2	c.502G>T (p.Gly168Cys)
17	g.70175542G>A	CA400860749	KCNJ2	c.503G>A (p.Gly168Asp)
17	g.70175542G>C	CA400860750	KCNJ2	c.503G>C (p.Gly168Ala)
17	g.70175542G>T	CA400860752	KCNJ2	c.503G>T (p.Gly168Val)
17	g.70175543C>A	CA501700771	KCNJ2	c.504C>A (p.Gly168=)
17	g.70175543C=	CA2272996600	KCNJ2	c.504C= (p.Gly168=)
17	g.70175543C>G	CA501700773	KCNJ2	c.504C>G (p.Gly168=)
17	g.70175543C>T	CA501700775	KCNJ2	c.504C>T (p.Gly168=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175544T>A	CA400860754	KCNJ2	c.505T>A (p.Cys169Ser)
17	g.70175544T>C	CA400860756	KCNJ2	c.505T>C (p.Cys169Arg)
17	g.70175544T>G	CA400860758	KCNJ2	c.505T>G (p.Cys169Gly)
17	g.70175545G>A	CA400860760	KCNJ2	c.506G>A (p.Cys169Tyr)
17	g.70175545G>C	CA400860764	KCNJ2	c.506G>C (p.Cys169Ser)
17	g.70175545G>T	CA400860762	KCNJ2	c.506G>T (p.Cys169Phe)
17	g.70175546C>A	CA400860766	KCNJ2	c.507C>A (p.Cys169Ter)
17	g.70175546C>G	CA400860768	KCNJ2	c.507C>G (p.Cys169Trp)
17	g.70175546C>T	CA501700780	KCNJ2	c.507C>T (p.Cys169=)
17	g.70175547A>C	CA400860770	KCNJ2	c.508A>C (p.Ile170Leu)
17	g.70175547A>G	CA400860772	KCNJ2	c.508A>G (p.Ile170Val)
17	g.70175547A>T	CA400860774	KCNJ2	c.508A>T (p.Ile170Phe)
17	g.70175548T>A	CA400860776	KCNJ2	c.509T>A (p.Ile170Asn)
17	g.70175548T>C	CA400860778	KCNJ2	c.509T>C (p.Ile170Thr)
17	g.70175548T>G	CA400860780	KCNJ2	c.509T>G (p.Ile170Ser)	gnomAD v4
17	g.70175549C>A	CA501700782	KCNJ2	c.510C>A (p.Ile170=)
17	g.70175549C=	CA2272996601	KCNJ2	c.510C= (p.Ile170=)
17	g.70175549C>G	CA400860782	KCNJ2	c.510C>G (p.Ile170Met)	ClinVar dbSNP
17	g.70175549C>T	CA501700783	KCNJ2	c.510C>T (p.Ile170=)	ClinVar
17	g.70175550A=	CA2272996602	KCNJ2	c.511A= (p.Ile171=)
17	g.70175550A>C	CA400860785	KCNJ2	c.511A>C (p.Ile171Leu)
17	g.70175550A>G	CA8738737	KCNJ2	c.511A>G (p.Ile171Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.70175550A>T	CA400860788	KCNJ2	c.511A>T (p.Ile171Phe)
17	g.70175551T>A	CA400860794	KCNJ2	c.512T>A (p.Ile171Asn)
17	g.70175551T>C	CA400860790	KCNJ2	c.512T>C (p.Ile171Thr)
17	g.70175551T>G	CA400860792	KCNJ2	c.512T>G (p.Ile171Ser)
17	g.70175552C>A	CA501700790	KCNJ2	c.513C>A (p.Ile171=)
17	g.70175552C=	CA2272996603	KCNJ2	c.513C= (p.Ile171=)
17	g.70175552C>G	CA400860796	KCNJ2	c.513C>G (p.Ile171Met)	COSMIC
17	g.70175552C>T	CA8738738	KCNJ2	c.513C>T (p.Ile171=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.70175553G>A	CA120002	KCNJ2	c.514G>A (p.Asp172Asn)	ClinVar dbSNP COSMIC
17	g.70175553G>C	CA400860801	KCNJ2	c.514G>C (p.Asp172His)
17	g.70175553G=	CA2272996604	KCNJ2	c.514G= (p.Asp172=)
17	g.70175553G>T	CA400860803	KCNJ2	c.514G>T (p.Asp172Tyr)
17	g.70175554A>C	CA400860805	KCNJ2	c.515A>C (p.Asp172Ala)
17	g.70175554A>G	CA400860806	KCNJ2	c.515A>G (p.Asp172Gly)	gnomAD v4
17	g.70175554A>T	CA400860808	KCNJ2	c.515A>T (p.Asp172Val)
17	g.70175555T>A	CA400860810	KCNJ2	c.516T>A (p.Asp172Glu)
17	g.70175555T>C	CA501700795	KCNJ2	c.516T>C (p.Asp172=)
17	g.70175555T>G	CA400860812	KCNJ2	c.516T>G (p.Asp172Glu)
17	g.70175556G>A	CA8738739	KCNJ2	c.517G>A (p.Ala173Thr)	dbSNP ExAC
17	g.70175556G>C	CA400860816	KCNJ2	c.517G>C (p.Ala173Pro)
17	g.70175556G=	CA2272996605	KCNJ2	c.517G= (p.Ala173=)
17	g.70175556G>T	CA400860814	KCNJ2	c.517G>T (p.Ala173Ser)	ClinVar dbSNP
17	g.70175557C>A	CA400860819	KCNJ2	c.518C>A (p.Ala173Asp)
17	g.70175557C>G	CA400860823	KCNJ2	c.518C>G (p.Ala173Gly)
17	g.70175557C>T	CA400860821	KCNJ2	c.518C>T (p.Ala173Val)
17	g.70175558T>A	CA501700798	KCNJ2	c.519T>A (p.Ala173=)
17	g.70175558T>C	CA501700799	KCNJ2	c.519T>C (p.Ala173=)
17	g.70175558T>G	CA501700801	KCNJ2	c.519T>G (p.Ala173=)
17	g.70175559T>A	CA400860825	KCNJ2	c.520T>A (p.Phe174Ile)
17	g.70175559T>C	CA400860827	KCNJ2	c.520T>C (p.Phe174Leu)
17	g.70175559T>G	CA400860829	KCNJ2	c.520T>G (p.Phe174Val)

Number of alleles fetched