Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG	CA2317361400	ELANE	c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG (p.Gly155=)
19	g.855667_855689del	CA631295190	ELANE	c.470_492del (p.Gly157AspfsTer?)	dbSNP gnomAD v2 gnomAD v4
19	g.855680G>A	CA504881930	ELANE	c.483G>A (p.Arg161=)
19	g.855680G>C	CA402918295	ELANE	c.483G>C (p.Arg161Ser)
19	g.855680G>T	CA402918297	ELANE	c.483G>T (p.Arg161Ser)	gnomAD v4
19	g.855681A>C	CA402918299	ELANE	c.484A>C (p.Asn162His)
19	g.855681A>G	CA402918301	ELANE	c.484A>G (p.Asn162Asp)
19	g.855681A>T	CA402918303	ELANE	c.484A>T (p.Asn162Tyr)
19	g.855682A>C	CA402918308	ELANE	c.485A>C (p.Asn162Thr)
19	g.855682A>G	CA402918310	ELANE	c.485A>G (p.Asn162Ser)	gnomAD v4
19	g.855682A>T	CA402918313	ELANE	c.485A>T (p.Asn162Ile)	gnomAD v4
19	g.855683C>A	CA402918317	ELANE	c.486C>A (p.Asn162Lys)
19	g.855683C=	CA2317361412	ELANE	c.486C= (p.Asn162=)
19	g.855683C>G	CA402918322	ELANE	c.486C>G (p.Asn162Lys)	dbSNP gnomAD v3 gnomAD v4
19	g.855683C>T	CA504881931	ELANE	c.486C>T (p.Asn162=)
19	g.855684C>A	CA402918324	ELANE	c.487C>A (p.Arg163Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.855684C=	CA2317361413	ELANE	c.487C= (p.Arg163=)
19	g.855684C>G	CA402918328	ELANE	c.487C>G (p.Arg163Gly)	dbSNP gnomAD v3 gnomAD v4
19	g.855684C>T	CA9026071	ELANE	c.487C>T (p.Arg163Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.855685G>A	CA402918332	ELANE	c.488G>A (p.Arg163His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855685G>C	CA402918334	ELANE	c.488G>C (p.Arg163Pro)
19	g.855685G=	CA2317361414	ELANE	c.488G= (p.Arg163=)
19	g.855685G>T	CA402918330	ELANE	c.488G>T (p.Arg163Leu)	gnomAD v4
19	g.855686T>A	CA504881933	ELANE	c.489T>A (p.Arg163=)
19	g.855686T>C	CA504881934	ELANE	c.489T>C (p.Arg163=)
19	g.855686T>G	CA504881935	ELANE	c.489T>G (p.Arg163=)
19	g.855687G>A	CA303944823	ELANE	c.490G>A (p.Gly164Arg)	dbSNP COSMIC
19	g.855687G>C	CA9026072	ELANE	c.490G>C (p.Gly164Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855687G=	CA2317361415	ELANE	c.490G= (p.Gly164=)
19	g.855687G>T	CA402918342	ELANE	c.490G>T (p.Gly164Trp)	gnomAD v4
19	g.855688G>A	CA402918344	ELANE	c.491G>A (p.Gly164Glu)	gnomAD v4
19	g.855688G>C	CA402918347	ELANE	c.491G>C (p.Gly164Ala)
19	g.855688G>T	CA402918350	ELANE	c.491G>T (p.Gly164Val)	gnomAD v4
19	g.855689G>A	CA504881939	ELANE	c.492G>A (p.Gly164=)	dbSNP COSMIC
19	g.855689G>C	CA303944826	ELANE	c.492G>C (p.Gly164=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855689G=	CA2317361416	ELANE	c.492G= (p.Gly164=)
19	g.855689G>T	CA504881940	ELANE	c.492G>T (p.Gly164=)	gnomAD v4
19	g.855690A=	CA2317361417	ELANE	c.493A= (p.Ile165=)
19	g.855690A>C	CA402918354	ELANE	c.493A>C (p.Ile165Leu)
19	g.855690A>G	CA402918357	ELANE	c.493A>G (p.Ile165Val)	ClinVar dbSNP
19	g.855690A>T	CA402918358	ELANE	c.493A>T (p.Ile165Phe)
19	g.855691T>A	CA402918359	ELANE	c.494T>A (p.Ile165Asn)
19	g.855691T>C	CA402918360	ELANE	c.494T>C (p.Ile165Thr)
19	g.855691T>G	CA402918363	ELANE	c.494T>G (p.Ile165Ser)	gnomAD v4
19	g.855692C>A	CA504881941	ELANE	c.495C>A (p.Ile165=)	gnomAD v4
19	g.855692C=	CA2317361418	ELANE	c.495C= (p.Ile165=)
19	g.855692C>G	CA9026074	ELANE	c.495C>G (p.Ile165Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855692C>T	CA9026073	ELANE	c.495C>T (p.Ile165=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855693G>A	CA9026075	ELANE	c.496G>A (p.Ala166Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855693G>C	CA402918368	ELANE	c.496G>C (p.Ala166Pro)
19	g.855693G=	CA2317361419	ELANE	c.496G= (p.Ala166=)
19	g.855693G>T	CA402918369	ELANE	c.496G>T (p.Ala166Ser)	gnomAD v4
19	g.855694C>A	CA402918373	ELANE	c.497C>A (p.Ala166Asp)
19	g.855694C=	CA2317361420	ELANE	c.497C= (p.Ala166=)
19	g.855694C>G	CA402918376	ELANE	c.497C>G (p.Ala166Gly)
19	g.855694C>T	CA303944836	ELANE	c.497C>T (p.Ala166Val)	dbSNP gnomAD v4
19	g.855695C>A	CA504881942	ELANE	c.498C>A (p.Ala166=)
19	g.855695C>G	CA504881943	ELANE	c.498C>G (p.Ala166=)
19	g.855695C>T	CA504881944	ELANE	c.498C>T (p.Ala166=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.855696A>C	CA402918381	ELANE	c.499A>C (p.Ser167Arg)
19	g.855696A>G	CA402918382	ELANE	c.499A>G (p.Ser167Gly)
19	g.855696A>T	CA402918384	ELANE	c.499A>T (p.Ser167Cys)
19	g.855697G>A	CA9026076	ELANE	c.500G>A (p.Ser167Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855697G>C	CA402918389	ELANE	c.500G>C (p.Ser167Thr)
19	g.855697G=	CA2317361421	ELANE	c.500G= (p.Ser167=)
19	g.855697G>T	CA402918391	ELANE	c.500G>T (p.Ser167Ile)	gnomAD v4
19	g.855698C>A	CA402918396	ELANE	c.501C>A (p.Ser167Arg)	dbSNP gnomAD v2 gnomAD v4
19	g.855698C=	CA2317361422	ELANE	c.501C= (p.Ser167=)
19	g.855698C>G	CA402918399	ELANE	c.501C>G (p.Ser167Arg)	dbSNP gnomAD v4
19	g.855698C>T	CA9026077	ELANE	c.501C>T (p.Ser167=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855699G>A	CA9026078	ELANE	c.502G>A (p.Val168Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855699G>C	CA402918404	ELANE	c.502G>C (p.Val168Leu)
19	g.855699G=	CA2317361423	ELANE	c.502G= (p.Val168=)
19	g.855699G>T	CA402918403	ELANE	c.502G>T (p.Val168Phe)	gnomAD v4
19	g.855700T>A	CA402918408	ELANE	c.503T>A (p.Val168Asp)
19	g.855700T>C	CA402918411	ELANE	c.503T>C (p.Val168Ala)
19	g.855700T>G	CA402918413	ELANE	c.503T>G (p.Val168Gly)
19	g.855701C>A	CA504881945	ELANE	c.504C>A (p.Val168=)
19	g.855701C>G	CA504881946	ELANE	c.504C>G (p.Val168=)
19	g.855701C>T	CA504881947	ELANE	c.504C>T (p.Val168=)
19	g.855702C>A	CA9026079	ELANE	c.505C>A (p.Leu169Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855702C=	CA2317361424	ELANE	c.505C= (p.Leu169=)
19	g.855702C>G	CA402918416	ELANE	c.505C>G (p.Leu169Val)
19	g.855702C>T	CA504881948	ELANE	c.505C>T (p.Leu169=)
19	g.855703T>A	CA402918418	ELANE	c.506T>A (p.Leu169Gln)
19	g.855703T>C	CA402918421	ELANE	c.506T>C (p.Leu169Pro)
19	g.855703T>G	CA402918424	ELANE	c.506T>G (p.Leu169Arg)
19	g.855704G>A	CA504881951	ELANE	c.507G>A (p.Leu169=)	gnomAD v4
19	g.855704G>C	CA504881950	ELANE	c.507G>C (p.Leu169=)
19	g.855704G=	CA2317361425	ELANE	c.507G= (p.Leu169=)
19	g.855704G>T	CA504881949	ELANE	c.507G>T (p.Leu169=)	dbSNP gnomAD v4
19	g.855705C>A	CA402918427	ELANE	c.508C>A (p.Gln170Lys)
19	g.855705C=	CA2317361426	ELANE	c.508C= (p.Gln170=)
19	g.855705C>G	CA402918428	ELANE	c.508C>G (p.Gln170Glu)
19	g.855705C>T	CA303944847	ELANE	c.508C>T (p.Gln170Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855706A=	CA2317361427	ELANE	c.509A= (p.Gln170=)
19	g.855706A>C	CA402918432	ELANE	c.509A>C (p.Gln170Pro)
19	g.855706A>G	CA402918433	ELANE	c.509A>G (p.Gln170Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.855706A>T	CA402918434	ELANE	c.509A>T (p.Gln170Leu)	gnomAD v4
19	g.855707G>A	CA504881952	ELANE	c.510G>A (p.Gln170=)	gnomAD v4
19	g.855707G>C	CA402918437	ELANE	c.510G>C (p.Gln170His)
19	g.855707G>T	CA402918439	ELANE	c.510G>T (p.Gln170His)	gnomAD v4
19	g.855708G>A	CA9026080	ELANE	c.511G>A (p.Glu171Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855708G>C	CA402918444	ELANE	c.511G>C (p.Glu171Gln)	gnomAD v4
19	g.855708G=	CA2317361428	ELANE	c.511G= (p.Glu171=)
19	g.855708G>T	CA402918446	ELANE	c.511G>T (p.Glu171Ter)	gnomAD v4
19	g.855709A>C	CA402918449	ELANE	c.512A>C (p.Glu171Ala)
19	g.855709A>G	CA402918452	ELANE	c.512A>G (p.Glu171Gly)
19	g.855709A>T	CA402918455	ELANE	c.512A>T (p.Glu171Val)
19	g.855710G>A	CA504881953	ELANE	c.513G>A (p.Glu171=)
19	g.855710G>C	CA402918456	ELANE	c.513G>C (p.Glu171Asp)
19	g.855710G=	CA2317361429	ELANE	c.513G= (p.Glu171=)
19	g.855710G>T	CA9026081	ELANE	c.513G>T (p.Glu171Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855711C>A	CA402918463	ELANE	c.514C>A (p.Leu172Ile)	gnomAD v4
19	g.855711C>G	CA402918464	ELANE	c.514C>G (p.Leu172Val)
19	g.855711C>T	CA402918466	ELANE	c.514C>T (p.Leu172Phe)
19	g.855712T>A	CA402918469	ELANE	c.515T>A (p.Leu172His)	gnomAD v4
19	g.855712T>C	CA402918474	ELANE	c.515T>C (p.Leu172Pro)
19	g.855712T>G	CA402918471	ELANE	c.515T>G (p.Leu172Arg)
19	g.855713C>A	CA504881954	ELANE	c.516C>A (p.Leu172=)
19	g.855713C>G	CA504881955	ELANE	c.516C>G (p.Leu172=)	ClinVar
19	g.855713C>T	CA504881956	ELANE	c.516C>T (p.Leu172=)
19	g.855714A=	CA2317361430	ELANE	c.517A= (p.Asn173=)
19	g.855714A>C	CA402918476	ELANE	c.517A>C (p.Asn173His)	dbSNP
19	g.855714A>G	CA402918479	ELANE	c.517A>G (p.Asn173Asp)	gnomAD v4
19	g.855714A>T	CA402918482	ELANE	c.517A>T (p.Asn173Tyr)
19	g.855715A=	CA2317361431	ELANE	c.518A= (p.Asn173=)
19	g.855715A>C	CA402918485	ELANE	c.518A>C (p.Asn173Thr)
19	g.855715A>G	CA9026082	ELANE	c.518A>G (p.Asn173Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855715A>T	CA402918490	ELANE	c.518A>T (p.Asn173Ile)
19	g.855716C>A	CA402918492	ELANE	c.519C>A (p.Asn173Lys)	ClinVar dbSNP gnomAD v4
19	g.855716C=	CA2317361432	ELANE	c.519C= (p.Asn173=)
19	g.855716C>G	CA402918496	ELANE	c.519C>G (p.Asn173Lys)
19	g.855716C>T	CA9026083	ELANE	c.519C>T (p.Asn173=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855717G>A	CA402918501	ELANE	c.520G>A (p.Val174Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.855717G>C	CA402918503	ELANE	c.520G>C (p.Val174Leu)
19	g.855717G=	CA2317361433	ELANE	c.520G= (p.Val174=)
19	g.855717G>T	CA402918506	ELANE	c.520G>T (p.Val174Leu)	gnomAD v4
19	g.855718T>A	CA402918507	ELANE	c.521T>A (p.Val174Glu)
19	g.855718T>C	CA402918509	ELANE	c.521T>C (p.Val174Ala)
19	g.855718T>G	CA402918508	ELANE	c.521T>G (p.Val174Gly)
19	g.855719G>A	CA504881957	ELANE	c.522G>A (p.Val174=)
19	g.855719G>C	CA504881958	ELANE	c.522G>C (p.Val174=)
19	g.855719G>T	CA504881959	ELANE	c.522G>T (p.Val174=)	gnomAD v4
19	g.855720A=	CA2317361434	ELANE	c.523A= (p.Thr175=)
19	g.855720A>C	CA402918510	ELANE	c.523A>C (p.Thr175Pro)
19	g.855720A>G	CA402918512	ELANE	c.523A>G (p.Thr175Ala)
19	g.855720A>T	CA402918520	ELANE	c.523A>T (p.Thr175Ser)	dbSNP gnomAD v4
19	g.855721C>A	CA402918525	ELANE	c.524C>A (p.Thr175Lys)
19	g.855721C=	CA2317361435	ELANE	c.524C= (p.Thr175=)
19	g.855721C>G	CA402918527	ELANE	c.524C>G (p.Thr175Arg)
19	g.855721C>T	CA9026084	ELANE	c.524C>T (p.Thr175Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855722G>A	CA303944863	ELANE	c.525G>A (p.Thr175=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855722G>C	CA504881963	ELANE	c.525G>C (p.Thr175=)
19	g.855722G=	CA2317361436	ELANE	c.525G= (p.Thr175=)
19	g.855722G>T	CA504881964	ELANE	c.525G>T (p.Thr175=)	ClinVar gnomAD v4
19	g.855723G>A	CA402918534	ELANE	c.526G>A (p.Val176Met)
19	g.855723G>C	CA402918537	ELANE	c.526G>C (p.Val176Leu)
19	g.855723G>T	CA402918539	ELANE	c.526G>T (p.Val176Leu)
19	g.855724T>A	CA402918544	ELANE	c.527T>A (p.Val176Glu)
19	g.855724T>C	CA402918546	ELANE	c.527T>C (p.Val176Ala)
19	g.855724T>G	CA402918541	ELANE	c.527T>G (p.Val176Gly)
19	g.855725G>A	CA504881966	ELANE	c.528G>A (p.Val176=)	dbSNP gnomAD v2 gnomAD v4
19	g.855725G>C	CA504881968	ELANE	c.528G>C (p.Val176=)
19	g.855725G=	CA2317361437	ELANE	c.528G= (p.Val176=)
19	g.855725G>T	CA504881967	ELANE	c.528G>T (p.Val176=)
19	g.855726G>A	CA402918553	ELANE	c.529G>A (p.Val177Met)	dbSNP gnomAD v4
19	g.855726G>C	CA402918549	ELANE	c.529G>C (p.Val177Leu)
19	g.855726G=	CA2317361438	ELANE	c.529G= (p.Val177=)
19	g.855726G>T	CA402918551	ELANE	c.529G>T (p.Val177Leu)	gnomAD v4
19	g.855727T>A	CA402918555	ELANE	c.530T>A (p.Val177Glu)
19	g.855727T>C	CA402918558	ELANE	c.530T>C (p.Val177Ala)
19	g.855727T>G	CA402918560	ELANE	c.530T>G (p.Val177Gly)
19	g.855728G>A	CA504881972	ELANE	c.531G>A (p.Val177=)	ClinVar gnomAD v4
19	g.855728G>C	CA504881973	ELANE	c.531G>C (p.Val177=)
19	g.855728G>T	CA504881974	ELANE	c.531G>T (p.Val177=)	gnomAD v4
19	g.855729A>C	CA402918569	ELANE	c.532A>C (p.Thr178Pro)
19	g.855729A>G	CA402918568	ELANE	c.532A>G (p.Thr178Ala)
19	g.855729A>T	CA402918563	ELANE	c.532A>T (p.Thr178Ser)
19	g.855730C>A	CA9026085	ELANE	c.533C>A (p.Thr178Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855730C=	CA2317361439	ELANE	c.533C= (p.Thr178=)
19	g.855730C>G	CA402918572	ELANE	c.533C>G (p.Thr178Arg)
19	g.855730C>T	CA9026086	ELANE	c.533C>T (p.Thr178Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855731G>A	CA504881975	ELANE	c.534G>A (p.Thr178=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855731G>C	CA504881976	ELANE	c.534G>C (p.Thr178=)
19	g.855731G=	CA2317361440	ELANE	c.534G= (p.Thr178=)
19	g.855731G>T	CA303944883	ELANE	c.534G>T (p.Thr178=)	ClinVar dbSNP gnomAD v4
19	g.855732T>A	CA402918574	ELANE	c.535T>A (p.Ser179Thr)	gnomAD v4
19	g.855732T>C	CA402918577	ELANE	c.535T>C (p.Ser179Pro)
19	g.855732T>G	CA402918580	ELANE	c.535T>G (p.Ser179Ala)
19	g.855733C>A	CA402918588	ELANE	c.536C>A (p.Ser179Tyr)	dbSNP gnomAD v2
19	g.855733C=	CA2317361441	ELANE	c.536C= (p.Ser179=)
19	g.855733C>G	CA402918593	ELANE	c.536C>G (p.Ser179Cys)
19	g.855733C>T	CA402918590	ELANE	c.536C>T (p.Ser179Phe)	gnomAD v4
19	g.855735del	CA2580096963	ELANE	c.538del (p.Leu180SerfsTer11)	ClinVar
19	g.855734_855760del	CA2582342341	ELANE	c.537_563del (p.Leu180_Thr188del)	ClinVar
19	g.855734C>A	CA504881980	ELANE	c.537C>A (p.Ser179=)
19	g.855734C=	CA2317361442	ELANE	c.537C= (p.Ser179=)
19	g.855734C>G	CA504881981	ELANE	c.537C>G (p.Ser179=)
19	g.855734C>T	CA9026087	ELANE	c.537C>T (p.Ser179=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855735C>A	CA402918595	ELANE	c.538C>A (p.Leu180Ile)
19	g.855735C=	CA2317361443	ELANE	c.538C= (p.Leu180=)
19	g.855735C>G	CA303944898	ELANE	c.538C>G (p.Leu180Val)	dbSNP COSMIC
19	g.855735C>T	CA402918600	ELANE	c.538C>T (p.Leu180Phe)	gnomAD v4
19	g.855737_855738dup	CA2695227795	ELANE	c.540_541dup (p.Cys181SerfsTer11)
19	g.855736T>A	CA402918602	ELANE	c.539T>A (p.Leu180His)
19	g.855736T>C	CA402918605	ELANE	c.539T>C (p.Leu180Pro)	gnomAD v4
19	g.855736T>G	CA402918607	ELANE	c.539T>G (p.Leu180Arg)
19	g.855737C>A	CA504881983	ELANE	c.540C>A (p.Leu180=)
19	g.855737C=	CA2317361444	ELANE	c.540C= (p.Leu180=)
19	g.855737C>G	CA303944912	ELANE	c.540C>G (p.Leu180=)	ClinVar dbSNP
19	g.855737C>T	CA504881984	ELANE	c.540C>T (p.Leu180=)
19	g.855738T>A	CA402918611	ELANE	c.541T>A (p.Cys181Ser)
19	g.855738T>C	CA402918612	ELANE	c.541T>C (p.Cys181Arg)
19	g.855738T>G	CA402918615	ELANE	c.541T>G (p.Cys181Gly)
19	g.855739G>A	CA402918620	ELANE	c.542G>A (p.Cys181Tyr)	ClinVar
19	g.855739G>C	CA402918619	ELANE	c.542G>C (p.Cys181Ser)
19	g.855739G>T	CA402918617	ELANE	c.542G>T (p.Cys181Phe)	gnomAD v4
19	g.855740C>A	CA402918622	ELANE	c.543C>A (p.Cys181Ter)
19	g.855740C>G	CA402918623	ELANE	c.543C>G (p.Cys181Trp)
19	g.855740C>T	CA504881986	ELANE	c.543C>T (p.Cys181=)	gnomAD v4
19	g.855741del	CA2573054848	ELANE	c.544del (p.Arg182ValfsTer9)	ClinVar dbSNP
19	g.855741C>A	CA402918625	ELANE	c.544C>A (p.Arg182Ser)	dbSNP gnomAD v3 gnomAD v4
19	g.855741C=	CA2317361445	ELANE	c.544C= (p.Arg182=)
19	g.855741C>G	CA402918626	ELANE	c.544C>G (p.Arg182Gly)
19	g.855741C>T	CA402918628	ELANE	c.544C>T (p.Arg182Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855742del	CA2695227796	ELANE	c.545del (p.Arg182LeufsTer9)
19	g.855742G>A	CA303944927	ELANE	c.545G>A (p.Arg182His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855742G>C	CA402918632	ELANE	c.545G>C (p.Arg182Pro)
19	g.855742G=	CA2317361446	ELANE	c.545G= (p.Arg182=)
19	g.855742G>T	CA402918631	ELANE	c.545G>T (p.Arg182Leu)	dbSNP gnomAD v2 gnomAD v4
19	g.855743T>A	CA504881987	ELANE	c.546T>A (p.Arg182=)
19	g.855743T>C	CA504881988	ELANE	c.546T>C (p.Arg182=)
19	g.855743T>G	CA504881990	ELANE	c.546T>G (p.Arg182=)	gnomAD v4
19	g.855744C>A	CA402918634	ELANE	c.547C>A (p.Arg183Ser)	gnomAD v4
19	g.855744C=	CA2317361447	ELANE	c.547C= (p.Arg183=)
19	g.855744C>G	CA402918636	ELANE	c.547C>G (p.Arg183Gly)	gnomAD v4
19	g.855744C>T	CA402918637	ELANE	c.547C>T (p.Arg183Cys)	dbSNP gnomAD v2 gnomAD v4
19	g.855745G>A	CA402918639	ELANE	c.548G>A (p.Arg183His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855745G>C	CA402918641	ELANE	c.548G>C (p.Arg183Pro)
19	g.855745G=	CA2317361448	ELANE	c.548G= (p.Arg183=)
19	g.855745G>T	CA402918643	ELANE	c.548G>T (p.Arg183Leu)	gnomAD v4
19	g.855746C>A	CA504881994	ELANE	c.549C>A (p.Arg183=)
19	g.855746C>G	CA504881992	ELANE	c.549C>G (p.Arg183=)
19	g.855746C>T	CA504881991	ELANE	c.549C>T (p.Arg183=)	gnomAD v4
19	g.855747A=	CA2317361449	ELANE	c.550A= (p.Ser184=)
19	g.855747A>C	CA402918644	ELANE	c.550A>C (p.Ser184Arg)	ClinVar dbSNP
19	g.855747A>G	CA402918648	ELANE	c.550A>G (p.Ser184Gly)
19	g.855747A>T	CA402918645	ELANE	c.550A>T (p.Ser184Cys)
19	g.855748G>A	CA402918649	ELANE	c.551G>A (p.Ser184Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855748G>C	CA402918650	ELANE	c.551G>C (p.Ser184Thr)
19	g.855748G=	CA2317361450	ELANE	c.551G= (p.Ser184=)
19	g.855748G>T	CA402918652	ELANE	c.551G>T (p.Ser184Ile)	gnomAD v4
19	g.855749C>A	CA402918654	ELANE	c.552C>A (p.Ser184Arg)
19	g.855749C=	CA2317361451	ELANE	c.552C= (p.Ser184=)
19	g.855749C>G	CA402918656	ELANE	c.552C>G (p.Ser184Arg)
19	g.855749C>T	CA9026088	ELANE	c.552C>T (p.Ser184=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855750A>C	CA402918659	ELANE	c.553A>C (p.Asn185His)
19	g.855750A>G	CA402918661	ELANE	c.553A>G (p.Asn185Asp)
19	g.855750A>T	CA402918662	ELANE	c.553A>T (p.Asn185Tyr)
19	g.855751A>C	CA402918664	ELANE	c.554A>C (p.Asn185Thr)
19	g.855751A>G	CA402918665	ELANE	c.554A>G (p.Asn185Ser)
19	g.855751A>T	CA402918667	ELANE	c.554A>T (p.Asn185Ile)
19	g.855752C>A	CA402918669	ELANE	c.555C>A (p.Asn185Lys)
19	g.855752C=	CA2317361452	ELANE	c.555C= (p.Asn185=)
19	g.855752C>G	CA402918671	ELANE	c.555C>G (p.Asn185Lys)
19	g.855752C>T	CA9026089	ELANE	c.555C>T (p.Asn185=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855753G>A	CA9026090	ELANE	c.556G>A (p.Val186Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855753G>C	CA402918672	ELANE	c.556G>C (p.Val186Leu)
19	g.855753G=	CA2317361453	ELANE	c.556G= (p.Val186=)
19	g.855753G>T	CA402918673	ELANE	c.556G>T (p.Val186Phe)
19	g.855754T>A	CA402918675	ELANE	c.557T>A (p.Val186Asp)	dbSNP gnomAD v4
19	g.855754T>C	CA402918679	ELANE	c.557T>C (p.Val186Ala)
19	g.855754T>G	CA402918680	ELANE	c.557T>G (p.Val186Gly)	gnomAD v4
19	g.855754T=	CA2317361454	ELANE	c.557T= (p.Val186=)
19	g.855755C>A	CA10583964	ELANE	c.558C>A (p.Val186=)	ClinVar dbSNP
19	g.855755C=	CA2317361455	ELANE	c.558C= (p.Val186=)
19	g.855755C>G	CA504882001	ELANE	c.558C>G (p.Val186=)
19	g.855755C>T	CA504882003	ELANE	c.558C>T (p.Val186=)
19	g.855756T>A	CA402918684	ELANE	c.559T>A (p.Cys187Ser)
19	g.855756T>C	CA402918685	ELANE	c.559T>C (p.Cys187Arg)
19	g.855756T>G	CA402918686	ELANE	c.559T>G (p.Cys187Gly)	dbSNP gnomAD v2 gnomAD v4
19	g.855756T=	CA2317361456	ELANE	c.559T= (p.Cys187=)
19	g.855757G>A	CA402918689	ELANE	c.560G>A (p.Cys187Tyr)	gnomAD v4 COSMIC
19	g.855757G>C	CA402918687	ELANE	c.560G>C (p.Cys187Ser)
19	g.855757G>T	CA402918688	ELANE	c.560G>T (p.Cys187Phe)	gnomAD v4
19	g.855758C>A	CA281501	ELANE	c.561C>A (p.Cys187Ter)	ClinVar dbSNP gnomAD v4
19	g.855758C=	CA2317361457	ELANE	c.561C= (p.Cys187=)
19	g.855758C>G	CA402918692	ELANE	c.561C>G (p.Cys187Trp)
19	g.855758C>T	CA504882009	ELANE	c.561C>T (p.Cys187=)	gnomAD v4
19	g.855759A=	CA2317361458	ELANE	c.562A= (p.Thr188=)
19	g.855759A>C	CA402918694	ELANE	c.562A>C (p.Thr188Pro)
19	g.855759A>G	CA303944945	ELANE	c.562A>G (p.Thr188Ala)	dbSNP gnomAD v4
19	g.855759A>T	CA402918695	ELANE	c.562A>T (p.Thr188Ser)
19	g.855760C>A	CA402918698	ELANE	c.563C>A (p.Thr188Asn)
19	g.855760C>G	CA402918701	ELANE	c.563C>G (p.Thr188Ser)
19	g.855760C>T	CA402918700	ELANE	c.563C>T (p.Thr188Ile)	gnomAD v4
19	g.855761T>A	CA504882014	ELANE	c.564T>A (p.Thr188=)
19	g.855761T>C	CA504882016	ELANE	c.564T>C (p.Thr188=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.855761T>G	CA504882017	ELANE	c.564T>G (p.Thr188=)
19	g.855761T=	CA2317361459	ELANE	c.564T= (p.Thr188=)
19	g.855762C>A	CA9026092	ELANE	c.565C>A (p.Leu189Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855762C=	CA2317361460	ELANE	c.565C= (p.Leu189=)
19	g.855762C>G	CA402918703	ELANE	c.565C>G (p.Leu189Val)	dbSNP gnomAD v2 gnomAD v4
19	g.855762C>T	CA9026091	ELANE	c.565C>T (p.Leu189Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855763T>A	CA402918706	ELANE	c.566T>A (p.Leu189His)
19	g.855763T>C	CA402918708	ELANE	c.566T>C (p.Leu189Pro)
19	g.855763T>G	CA402918709	ELANE	c.566T>G (p.Leu189Arg)
19	g.855763dup	CA2740091833	ELANE	c.566dup (p.Val190ArgfsTer?)	ClinVar
19	g.855764C>A	CA9026094	ELANE	c.567C>A (p.Leu189=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855764C=	CA2317361461	ELANE	c.567C= (p.Leu189=)
19	g.855764C>G	CA504882019	ELANE	c.567C>G (p.Leu189=)	ClinVar dbSNP
19	g.855764C>T	CA9026093	ELANE	c.567C>T (p.Leu189=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855765G>A	CA10583963	ELANE	c.568G>A (p.Val190Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855765G>C	CA9026095	ELANE	c.568G>C (p.Val190Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855765G=	CA2317361462	ELANE	c.568G= (p.Val190=)
19	g.855765G>T	CA402918715	ELANE	c.568G>T (p.Val190Leu)	gnomAD v4
19	g.855766T>A	CA402918717	ELANE	c.569T>A (p.Val190Glu)
19	g.855766T>C	CA402918720	ELANE	c.569T>C (p.Val190Ala)
19	g.855766T>G	CA402918718	ELANE	c.569T>G (p.Val190Gly)	ClinVar dbSNP gnomAD v4
19	g.855766T=	CA2317361463	ELANE	c.569T= (p.Val190=)
19	g.855767G>A	CA504882020	ELANE	c.570G>A (p.Val190=)	ClinVar
19	g.855767G>C	CA504882021	ELANE	c.570G>C (p.Val190=)
19	g.855767G>T	CA504882022	ELANE	c.570G>T (p.Val190=)
19	g.855768A>C	CA504882023	ELANE	c.571A>C (p.Arg191=)
19	g.855768A>G	CA402918721	ELANE	c.571A>G (p.Arg191Gly)
19	g.855768A>T	CA402918723	ELANE	c.571A>T (p.Arg191Trp)
19	g.855768dup	CA2587805320	ELANE	c.571dup (p.Arg191LysfsTer?)	gnomAD v4
19	g.855771_855780del	CA2573054849	ELANE	c.574_583del (p.Gly192ProfsTer17)	ClinVar dbSNP
19	g.855769G>A	CA402918725	ELANE	c.572G>A (p.Arg191Lys)
19	g.855769G>C	CA402918727	ELANE	c.572G>C (p.Arg191Thr)
19	g.855769G>T	CA402918729	ELANE	c.572G>T (p.Arg191Met)
19	g.855770G>A	CA504882026	ELANE	c.573G>A (p.Arg191=)	COSMIC
19	g.855770G>C	CA9026096	ELANE	c.573G>C (p.Arg191Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855770G=	CA2317361464	ELANE	c.573G= (p.Arg191=)
19	g.855770G>T	CA402918731	ELANE	c.573G>T (p.Arg191Ser)	ClinVar dbSNP gnomAD v4
19	g.855771G>A	CA402918733	ELANE	c.574G>A (p.Gly192Ser)	gnomAD v4
19	g.855771G>C	CA402918734	ELANE	c.574G>C (p.Gly192Arg)	dbSNP
19	g.855771G=	CA2317361465	ELANE	c.574G= (p.Gly192=)
19	g.855771G>T	CA402918736	ELANE	c.574G>T (p.Gly192Cys)
19	g.855778_855785dup	CA2695227797	ELANE	c.581_588dup (p.Val197ArgfsTer18)
19	g.855772_855786del	CA2695227798	ELANE	c.575_589del (p.Gly192_Gly196del)
19	g.855772G>A	CA303944963	ELANE	c.575G>A (p.Gly192Asp)	dbSNP gnomAD v2 gnomAD v4
19	g.855772G>C	CA402918739	ELANE	c.575G>C (p.Gly192Ala)	gnomAD v4
19	g.855772G=	CA2317361466	ELANE	c.575G= (p.Gly192=)
19	g.855772G>T	CA402918740	ELANE	c.575G>T (p.Gly192Val)	dbSNP gnomAD v2 gnomAD v4
19	g.855773C>A	CA303944972	ELANE	c.576C>A (p.Gly192=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855773C=	CA2317361467	ELANE	c.576C= (p.Gly192=)
19	g.855773C>G	CA504882032	ELANE	c.576C>G (p.Gly192=)
19	g.855773C>T	CA504882030	ELANE	c.576C>T (p.Gly192=)	gnomAD v4
19	g.855773_855784delinsCCGGCAGGCCGG	CA2317361468	ELANE	c.576_587delinsCCGGCAGGCCGG (p.Gly192=)
19	g.855774_855788del	CA2587805321	ELANE	c.577_591del (p.Arg193_Val197del)	gnomAD v4
19	g.855774C>A	CA504882033	ELANE	c.577C>A (p.Arg193=)
19	g.855774C=	CA2317361469	ELANE	c.577C= (p.Arg193=)
19	g.855774C>G	CA402918742	ELANE	c.577C>G (p.Arg193Gly)	dbSNP gnomAD v3 gnomAD v4
19	g.855774C>T	CA303944983	ELANE	c.577C>T (p.Arg193Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.855775_855781del	CA2695227799	ELANE	c.578_584del (p.Arg193ProfsTer17)
19	g.855776_855786del	CA884315422	ELANE	c.579_589del (p.Gln194LeufsTer?)	dbSNP gnomAD v3 gnomAD v4
19	g.855775G>A	CA9026097	ELANE	c.578G>A (p.Arg193Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855775G>C	CA402918745	ELANE	c.578G>C (p.Arg193Pro)
19	g.855775G=	CA2317361470	ELANE	c.578G= (p.Arg193=)
19	g.855775G>T	CA402918747	ELANE	c.578G>T (p.Arg193Leu)	gnomAD v4 COSMIC
19	g.855776G>A	CA504882035	ELANE	c.579G>A (p.Arg193=)	gnomAD v4
19	g.855776G>C	CA504882036	ELANE	c.579G>C (p.Arg193=)
19	g.855776G>T	CA504882037	ELANE	c.579G>T (p.Arg193=)	gnomAD v4
19	g.855777C>A	CA402918749	ELANE	c.580C>A (p.Gln194Lys)	gnomAD v4
19	g.855777C>G	CA402918750	ELANE	c.580C>G (p.Gln194Glu)
19	g.855777C>T	CA402918751	ELANE	c.580C>T (p.Gln194Ter)
19	g.855778_855794dup	CA2580096965	ELANE	c.581_597dup (p.Gly200ArgfsTer18)	ClinVar
19	g.855778A=	CA2317361471	ELANE	c.581A= (p.Gln194=)
19	g.855778A>C	CA9026098	ELANE	c.581A>C (p.Gln194Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855778A>G	CA402918752	ELANE	c.581A>G (p.Gln194Arg)
19	g.855778A>T	CA402918753	ELANE	c.581A>T (p.Gln194Leu)	ClinVar gnomAD v4
19	g.855778_855779delinsAG	CA2317361472	ELANE	c.581_582delinsAG (p.Gln194=)
19	g.855778_855779delinsCT	CA16620914	ELANE	c.581_582delinsCT (p.Gln194Pro)	ClinVar dbSNP
19	g.855779G>A	CA504882041	ELANE	c.582G>A (p.Gln194=)	dbSNP
19	g.855779G>C	CA402918754	ELANE	c.582G>C (p.Gln194His)	dbSNP
19	g.855779G=	CA2317361473	ELANE	c.582G= (p.Gln194=)
19	g.855779G>T	CA9026099	ELANE	c.582G>T (p.Gln194His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.855780G>A	CA402918756	ELANE	c.583G>A (p.Ala195Thr)	ClinVar gnomAD v4
19	g.855780G>C	CA9026100	ELANE	c.583G>C (p.Ala195Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855780G=	CA2317361474	ELANE	c.583G= (p.Ala195=)
19	g.855780G>T	CA402918755	ELANE	c.583G>T (p.Ala195Ser)	gnomAD v4
19	g.855780_855781dup	CA2695227800	ELANE	c.583_584dup (p.Gly196ProfsTer17)

Number of alleles fetched