Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.856103G>A	CA402919369	ELANE	c.743G>A (p.Arg248His)	gnomAD v4
19	g.856103G>C	CA402919370	ELANE	c.743G>C (p.Arg248Pro)
19	g.856103G=	CA2317361670	ELANE	c.743G= (p.Arg248=)
19	g.856103G>T	CA402919371	ELANE	c.743G>T (p.Arg248Leu)	dbSNP
19	g.856104C>A	CA504687114	ELANE	c.744C>A (p.Arg248=)
19	g.856104C=	CA2317361671	ELANE	c.744C= (p.Arg248=)
19	g.856104C>G	CA504687119	ELANE	c.744C>G (p.Arg248=)	ClinVar dbSNP
19	g.856104C>T	CA504687116	ELANE	c.744C>T (p.Arg248=)	ClinVar dbSNP
19	g.856105T>A	CA402919374	ELANE	c.745T>A (p.Ser249Thr)	dbSNP gnomAD v3 gnomAD v4
19	g.856105T>C	CA402919376	ELANE	c.745T>C (p.Ser249Pro)
19	g.856105T>G	CA402919377	ELANE	c.745T>G (p.Ser249Ala)
19	g.856105T=	CA2317361672	ELANE	c.745T= (p.Ser249=)
19	g.856106C>A	CA402919378	ELANE	c.746C>A (p.Ser249Tyr)
19	g.856106C=	CA2317361673	ELANE	c.746C= (p.Ser249=)
19	g.856106C>G	CA402919381	ELANE	c.746C>G (p.Ser249Cys)	ClinVar dbSNP gnomAD v4
19	g.856106C>T	CA9026154	ELANE	c.746C>T (p.Ser249Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856107C>A	CA504687138	ELANE	c.747C>A (p.Ser249=)
19	g.856107C=	CA2317361674	ELANE	c.747C= (p.Ser249=)
19	g.856107C>G	CA504687141	ELANE	c.747C>G (p.Ser249=)	gnomAD v4
19	g.856107C>T	CA9026155	ELANE	c.747C>T (p.Ser249=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.856108G>A	CA402919384	ELANE	c.748G>A (p.Glu250Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.856108G>C	CA402919386	ELANE	c.748G>C (p.Glu250Gln)
19	g.856108G=	CA2317361675	ELANE	c.748G= (p.Glu250=)
19	g.856108G>T	CA402919387	ELANE	c.748G>T (p.Glu250Ter)
19	g.856109A>C	CA402919390	ELANE	c.749A>C (p.Glu250Ala)
19	g.856109A>G	CA402919392	ELANE	c.749A>G (p.Glu250Gly)
19	g.856109A>T	CA402919393	ELANE	c.749A>T (p.Glu250Val)
19	g.856110G>A	CA504687159	ELANE	c.750G>A (p.Glu250=)
19	g.856110G>C	CA402919394	ELANE	c.750G>C (p.Glu250Asp)
19	g.856110G>T	CA402919396	ELANE	c.750G>T (p.Glu250Asp)
19	g.856111G>A	CA402919398	ELANE	c.751G>A (p.Asp251Asn)
19	g.856111G>C	CA402919400	ELANE	c.751G>C (p.Asp251His)
19	g.856111G>T	CA402919401	ELANE	c.751G>T (p.Asp251Tyr)	ClinVar gnomAD v4
19	g.856112A=	CA2317361676	ELANE	c.752A= (p.Asp251=)
19	g.856112A>C	CA402919406	ELANE	c.752A>C (p.Asp251Ala)	ClinVar dbSNP
19	g.856112A>G	CA402919407	ELANE	c.752A>G (p.Asp251Gly)
19	g.856112A>T	CA402919403	ELANE	c.752A>T (p.Asp251Val)
19	g.856113C>A	CA402919411	ELANE	c.753C>A (p.Asp251Glu)
19	g.856113C=	CA2317361677	ELANE	c.753C= (p.Asp251=)
19	g.856113C>G	CA402919409	ELANE	c.753C>G (p.Asp251Glu)	dbSNP gnomAD v3 gnomAD v4
19	g.856113C>T	CA504687183	ELANE	c.753C>T (p.Asp251=)	gnomAD v4
19	g.856114A>C	CA402919414	ELANE	c.754A>C (p.Asn252His)
19	g.856114A>G	CA402919413	ELANE	c.754A>G (p.Asn252Asp)
19	g.856114A>T	CA402919416	ELANE	c.754A>T (p.Asn252Tyr)
19	g.856114_856126delinsAACCCCTGTCCCC	CA2317361678	ELANE	c.754_766delinsAACCCCTGTCCCC (p.Asn252=)
19	g.856115A>C	CA402919418	ELANE	c.755A>C (p.Asn252Thr)
19	g.856115A>G	CA402919420	ELANE	c.755A>G (p.Asn252Ser)
19	g.856115A>T	CA402919421	ELANE	c.755A>T (p.Asn252Ile)
19	g.856120_856131del	CA884315985	ELANE	c.760_771del (p.Cys254_Pro257del)	dbSNP gnomAD v3 gnomAD v4
19	g.856116C>A	CA402919423	ELANE	c.756C>A (p.Asn252Lys)
19	g.856116C=	CA2317361679	ELANE	c.756C= (p.Asn252=)
19	g.856116C>G	CA402919425	ELANE	c.756C>G (p.Asn252Lys)
19	g.856116C>T	CA504687205	ELANE	c.756C>T (p.Asn252=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.856117C>A	CA402919426	ELANE	c.757C>A (p.Pro253Thr)
19	g.856117C=	CA2317361680	ELANE	c.757C= (p.Pro253=)
19	g.856117C>G	CA402919428	ELANE	c.757C>G (p.Pro253Ala)	gnomAD v4
19	g.856117C>T	CA402919430	ELANE	c.757C>T (p.Pro253Ser)	dbSNP gnomAD v3 gnomAD v4
19	g.856118C>A	CA402919432	ELANE	c.758C>A (p.Pro253His)
19	g.856118C>G	CA402919433	ELANE	c.758C>G (p.Pro253Arg)
19	g.856118C>T	CA402919435	ELANE	c.758C>T (p.Pro253Leu)
19	g.856119C>A	CA504687223	ELANE	c.759C>A (p.Pro253=)	gnomAD v4
19	g.856119C=	CA2317361681	ELANE	c.759C= (p.Pro253=)
19	g.856119C>G	CA504687225	ELANE	c.759C>G (p.Pro253=)
19	g.856119C>T	CA504687228	ELANE	c.759C>T (p.Pro253=)	dbSNP gnomAD v4
19	g.856120T>A	CA402919440	ELANE	c.760T>A (p.Cys254Ser)
19	g.856120T>C	CA402919436	ELANE	c.760T>C (p.Cys254Arg)	ClinVar dbSNP
19	g.856120T>G	CA402919438	ELANE	c.760T>G (p.Cys254Gly)
19	g.856121G>A	CA402919442	ELANE	c.761G>A (p.Cys254Tyr)	ClinVar
19	g.856121G>C	CA402919443	ELANE	c.761G>C (p.Cys254Ser)
19	g.856121G>T	CA402919445	ELANE	c.761G>T (p.Cys254Phe)
19	g.856122T>A	CA402919447	ELANE	c.762T>A (p.Cys254Ter)
19	g.856122T>C	CA504687242	ELANE	c.762T>C (p.Cys254=)
19	g.856122T>G	CA402919448	ELANE	c.762T>G (p.Cys254Trp)
19	g.856123C>A	CA402919449	ELANE	c.763C>A (p.Pro255Thr)
19	g.856123C>G	CA402919450	ELANE	c.763C>G (p.Pro255Ala)
19	g.856123C>T	CA402919452	ELANE	c.763C>T (p.Pro255Ser)
19	g.856124C>A	CA402919455	ELANE	c.764C>A (p.Pro255His)
19	g.856124C>G	CA402919456	ELANE	c.764C>G (p.Pro255Arg)
19	g.856124C>T	CA402919457	ELANE	c.764C>T (p.Pro255Leu)	gnomAD v4
19	g.856125C>A	CA504687265	ELANE	c.765C>A (p.Pro255=)
19	g.856125C>G	CA504687267	ELANE	c.765C>G (p.Pro255=)
19	g.856125C>T	CA504687269	ELANE	c.765C>T (p.Pro255=)
19	g.856126C>A	CA402919460	ELANE	c.766C>A (p.His256Asn)
19	g.856126C>G	CA402919462	ELANE	c.766C>G (p.His256Asp)
19	g.856126C>T	CA402919458	ELANE	c.766C>T (p.His256Tyr)
19	g.856127A>C	CA402919464	ELANE	c.767A>C (p.His256Pro)
19	g.856127A>G	CA402919465	ELANE	c.767A>G (p.His256Arg)
19	g.856127A>T	CA402919467	ELANE	c.767A>T (p.His256Leu)
19	g.856127_856128delinsAC	CA2317361682	ELANE	c.767_768delinsAC (p.His256=)
19	g.856128C>A	CA402919469	ELANE	c.768C>A (p.His256Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.856128C=	CA2317361683	ELANE	c.768C= (p.His256=)
19	g.856128C>G	CA402919471	ELANE	c.768C>G (p.His256Gln)	gnomAD v4
19	g.856128C>T	CA9026156	ELANE	c.768C>T (p.His256=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856132del	CA631295812	ELANE	c.772del (p.Arg258GlyfsTer?)	dbSNP gnomAD v2 gnomAD v4
19	g.856129C>A	CA402919474	ELANE	c.769C>A (p.Pro257Thr)	gnomAD v4
19	g.856129C=	CA2317361684	ELANE	c.769C= (p.Pro257=)
19	g.856129C>G	CA402919472	ELANE	c.769C>G (p.Pro257Ala)
19	g.856129C>T	CA9026157	ELANE	c.769C>T (p.Pro257Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856130C>A	CA402919476	ELANE	c.770C>A (p.Pro257His)
19	g.856130C=	CA2317361685	ELANE	c.770C= (p.Pro257=)
19	g.856130C>G	CA402919478	ELANE	c.770C>G (p.Pro257Arg)
19	g.856130C>T	CA9026158	ELANE	c.770C>T (p.Pro257Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856131C>A	CA504687303	ELANE	c.771C>A (p.Pro257=)
19	g.856131C>G	CA504687305	ELANE	c.771C>G (p.Pro257=)
19	g.856131C>T	CA504687307	ELANE	c.771C>T (p.Pro257=)
19	g.856132C>A	CA504687310	ELANE	c.772C>A (p.Arg258=)	dbSNP gnomAD v3 gnomAD v4
19	g.856132C=	CA2317361686	ELANE	c.772C= (p.Arg258=)
19	g.856132C>G	CA402919480	ELANE	c.772C>G (p.Arg258Gly)
19	g.856132C>T	CA9026159	ELANE	c.772C>T (p.Arg258Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.856133G>A	CA9026160	ELANE	c.773G>A (p.Arg258Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856133G>C	CA402919484	ELANE	c.773G>C (p.Arg258Pro)	gnomAD v4
19	g.856133G=	CA2317361687	ELANE	c.773G= (p.Arg258=)
19	g.856133G>T	CA402919482	ELANE	c.773G>T (p.Arg258Leu)
19	g.856134G>A	CA504687329	ELANE	c.774G>A (p.Arg258=)
19	g.856134G>C	CA504687326	ELANE	c.774G>C (p.Arg258=)
19	g.856134G>T	CA504687324	ELANE	c.774G>T (p.Arg258=)
19	g.856135G>A	CA402919486	ELANE	c.775G>A (p.Asp259Asn)	gnomAD v4
19	g.856135G>C	CA402919487	ELANE	c.775G>C (p.Asp259His)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.856135G=	CA2317361688	ELANE	c.775G= (p.Asp259=)
19	g.856135G>T	CA402919489	ELANE	c.775G>T (p.Asp259Tyr)
19	g.856136A=	CA2317361689	ELANE	c.776A= (p.Asp259=)
19	g.856136A>C	CA402919490	ELANE	c.776A>C (p.Asp259Ala)
19	g.856136A>G	CA9026161	ELANE	c.776A>G (p.Asp259Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856136A>T	CA402919492	ELANE	c.776A>T (p.Asp259Val)
19	g.856137C>A	CA402919494	ELANE	c.777C>A (p.Asp259Glu)
19	g.856137C>G	CA402919496	ELANE	c.777C>G (p.Asp259Glu)	gnomAD v4
19	g.856137C>T	CA504687347	ELANE	c.777C>T (p.Asp259=)	gnomAD v4
19	g.856138C>A	CA9026162	ELANE	c.778C>A (p.Pro260Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856138C=	CA2317361690	ELANE	c.778C= (p.Pro260=)
19	g.856138C>G	CA402919498	ELANE	c.778C>G (p.Pro260Ala)
19	g.856138C>T	CA402919500	ELANE	c.778C>T (p.Pro260Ser)	gnomAD v4 COSMIC
19	g.856139C>A	CA402919504	ELANE	c.779C>A (p.Pro260Gln)
19	g.856139C=	CA2317361691	ELANE	c.779C= (p.Pro260=)
19	g.856139C>G	CA303945445	ELANE	c.779C>G (p.Pro260Arg)	dbSNP
19	g.856139C>T	CA9026163	ELANE	c.779C>T (p.Pro260Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.856140G>A	CA9026164	ELANE	c.780G>A (p.Pro260=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856140G>C	CA504687369	ELANE	c.780G>C (p.Pro260=)
19	g.856140G=	CA2317361692	ELANE	c.780G= (p.Pro260=)
19	g.856140G>T	CA504687366	ELANE	c.780G>T (p.Pro260=)
19	g.856141G>A	CA402919510	ELANE	c.781G>A (p.Asp261Asn)	dbSNP gnomAD v2 gnomAD v4
19	g.856141G>C	CA9026165	ELANE	c.781G>C (p.Asp261His)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856141G=	CA2317361693	ELANE	c.781G= (p.Asp261=)
19	g.856141G>T	CA402919508	ELANE	c.781G>T (p.Asp261Tyr)
19	g.856142A>C	CA402919511	ELANE	c.782A>C (p.Asp261Ala)
19	g.856142A>G	CA402919513	ELANE	c.782A>G (p.Asp261Gly)	ClinVar gnomAD v4
19	g.856142A>T	CA402919515	ELANE	c.782A>T (p.Asp261Val)
19	g.856143C>A	CA402919517	ELANE	c.783C>A (p.Asp261Glu)
19	g.856143C=	CA2317361694	ELANE	c.783C= (p.Asp261=)
19	g.856143C>G	CA402919518	ELANE	c.783C>G (p.Asp261Glu)	dbSNP
19	g.856143C>T	CA504687383	ELANE	c.783C>T (p.Asp261=)	gnomAD v4
19	g.856144C>A	CA402919520	ELANE	c.784C>A (p.Pro262Thr)	dbSNP
19	g.856144C=	CA2317361695	ELANE	c.784C= (p.Pro262=)
19	g.856144C>G	CA402919522	ELANE	c.784C>G (p.Pro262Ala)
19	g.856144C>T	CA9026166	ELANE	c.784C>T (p.Pro262Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856145C>A	CA402919524	ELANE	c.785C>A (p.Pro262Gln)	gnomAD v4
19	g.856145C=	CA2317361696	ELANE	c.785C= (p.Pro262=)
19	g.856145C>G	CA402919525	ELANE	c.785C>G (p.Pro262Arg)
19	g.856145C>T	CA290729	ELANE	c.785C>T (p.Pro262Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856146G>A	CA9026167	ELANE	c.786G>A (p.Pro262=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.856146G>C	CA504687404	ELANE	c.786G>C (p.Pro262=)	ClinVar dbSNP
19	g.856146G=	CA2317361697	ELANE	c.786G= (p.Pro262=)
19	g.856146G>T	CA504687406	ELANE	c.786G>T (p.Pro262=)	dbSNP gnomAD v2
19	g.856147G>A	CA402919530	ELANE	c.787G>A (p.Ala263Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.856147G>C	CA402919531	ELANE	c.787G>C (p.Ala263Pro)
19	g.856147G=	CA2317361698	ELANE	c.787G= (p.Ala263=)
19	g.856147G>T	CA402919532	ELANE	c.787G>T (p.Ala263Ser)	dbSNP
19	g.856148C>A	CA303945470	ELANE	c.788C>A (p.Ala263Asp)	dbSNP gnomAD v4
19	g.856148C=	CA2317361699	ELANE	c.788C= (p.Ala263=)
19	g.856148C>G	CA402919535	ELANE	c.788C>G (p.Ala263Gly)
19	g.856148C>T	CA402919536	ELANE	c.788C>T (p.Ala263Val)
19	g.856149C>A	CA504687421	ELANE	c.789C>A (p.Ala263=)
19	g.856149C=	CA2317361700	ELANE	c.789C= (p.Ala263=)
19	g.856149C>G	CA504687424	ELANE	c.789C>G (p.Ala263=)
19	g.856149C>T	CA303945471	ELANE	c.789C>T (p.Ala263=)	ClinVar dbSNP gnomAD v4
19	g.856150A=	CA2317361701	ELANE	c.790A= (p.Ser264=)
19	g.856150A>C	CA402919540	ELANE	c.790A>C (p.Ser264Arg)
19	g.856150A>G	CA402919541	ELANE	c.790A>G (p.Ser264Gly)	ClinVar dbSNP
19	g.856150A>T	CA402919543	ELANE	c.790A>T (p.Ser264Cys)	gnomAD v4
19	g.856151G>A	CA402919545	ELANE	c.791G>A (p.Ser264Asn)
19	g.856151G>C	CA402919547	ELANE	c.791G>C (p.Ser264Thr)
19	g.856151G=	CA2317361702	ELANE	c.791G= (p.Ser264=)
19	g.856151G>T	CA402919548	ELANE	c.791G>T (p.Ser264Ile)	dbSNP gnomAD v3 gnomAD v4
19	g.856152C>A	CA402919552	ELANE	c.792C>A (p.Ser264Arg)
19	g.856152C>G	CA402919550	ELANE	c.792C>G (p.Ser264Arg)	gnomAD v4
19	g.856152C>T	CA504687443	ELANE	c.792C>T (p.Ser264=)
19	g.856153A=	CA2317361703	ELANE	c.793A= (p.Arg265=)
19	g.856153A>C	CA9026168	ELANE	c.793A>C (p.Arg265=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856153A>G	CA402919554	ELANE	c.793A>G (p.Arg265Gly)
19	g.856153A>T	CA402919555	ELANE	c.793A>T (p.Arg265Trp)
19	g.856154G>A	CA402919558	ELANE	c.794G>A (p.Arg265Lys)
19	g.856154G>C	CA402919559	ELANE	c.794G>C (p.Arg265Thr)
19	g.856154G>T	CA402919561	ELANE	c.794G>T (p.Arg265Met)
19	g.856155G>A	CA504687459	ELANE	c.795G>A (p.Arg265=)	gnomAD v4
19	g.856155G>C	CA402919563	ELANE	c.795G>C (p.Arg265Ser)	dbSNP gnomAD v4
19	g.856155G=	CA2317361704	ELANE	c.795G= (p.Arg265=)
19	g.856155G>T	CA402919565	ELANE	c.795G>T (p.Arg265Ser)
19	g.856156A=	CA2317361705	ELANE	c.796A= (p.Thr266=)
19	g.856156A>C	CA402919566	ELANE	c.796A>C (p.Thr266Pro)
19	g.856156A>G	CA402919568	ELANE	c.796A>G (p.Thr266Ala)
19	g.856156A>T	CA402919570	ELANE	c.796A>T (p.Thr266Ser)
19	g.856156_856157insG	CA2317361706	ELANE	c.796_797insG (p.Thr266SerfsTer24)	dbSNP gnomAD v4
19	g.856157C>A	CA9026169	ELANE	c.797C>A (p.Thr266Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856157C=	CA2317361707	ELANE	c.797C= (p.Thr266=)
19	g.856157C>G	CA402919572	ELANE	c.797C>G (p.Thr266Ser)
19	g.856157C>T	CA402919573	ELANE	c.797C>T (p.Thr266Ile)
19	g.856159del	CA2587805476	ELANE	c.799del (p.His267ThrfsTer?)	gnomAD v4
19	g.856158C>A	CA9026170	ELANE	c.798C>A (p.Thr266=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856158C=	CA2317361708	ELANE	c.798C= (p.Thr266=)
19	g.856158C>G	CA504687477	ELANE	c.798C>G (p.Thr266=)
19	g.856158C>T	CA303945476	ELANE	c.798C>T (p.Thr266=)	dbSNP gnomAD v2 gnomAD v4
19	g.856159C>A	CA402919575	ELANE	c.799C>A (p.His267Asn)
19	g.856159C>G	CA402919576	ELANE	c.799C>G (p.His267Asp)
19	g.856159C>T	CA402919578	ELANE	c.799C>T (p.His267Tyr)
19	g.856160A>C	CA402919580	ELANE	c.800A>C (p.His267Pro)
19	g.856160A>G	CA402919582	ELANE	c.800A>G (p.His267Arg)
19	g.856160A>T	CA402919584	ELANE	c.800A>T (p.His267Leu)
19	g.856161C>A	CA402919585	ELANE	c.801C>A (p.His267Gln)
19	g.856161C>G	CA402919586	ELANE	c.801C>G (p.His267Gln)	gnomAD v4
19	g.856161C>T	CA504687503	ELANE	c.801C>T (p.His267=)
19	g.856162T>A	CA402919587	ELANE	c.802T>A (p.Ter268Arg)
19	g.856162T>C	CA402919588	ELANE	c.802T>C (p.Ter268Arg)
19	g.856162T>G	CA402919589	ELANE	c.802T>G (p.Ter268Gly)
19	g.856162_856165delinsTGAG	CA2317361709	ELANE	c.802_1delinsTGAG (n.[c.802_1delinsTGAG;Ter268=])
19	g.856163G>A	CA504687507	ELANE	c.803G>A (p.Ter268=)	COSMIC
19	g.856163G>C	CA402919591	ELANE	c.803G>C (p.Ter268Ser)	ClinVar
19	g.856163G>T	CA402919593	ELANE	c.803G>T (p.Ter268Leu)
19	g.856163_856165del	CA9026171	ELANE	c.803_1del (n.[c.803_1del;Ter268=])	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856164A>C	CA402919597	ELANE	c.804A>C (p.Ter268Cys)
19	g.856164A>G	CA402919598	ELANE	c.804A>G (p.Ter268Trp)
19	g.856164A>T	CA402919596	ELANE	c.804A>T (p.Ter268Cys)
19	g.856165G>A	CA504687510	ELANE	c.1G>A (n.1G>A)	gnomAD v4
19	g.856165G>C	CA2587805487	ELANE	c.1G>C (n.1G>C)	gnomAD v4
19	g.856166A=	CA2317361710	ELANE	c.2A= (n.2A=)
19	g.856166A>G	CA915951614	ELANE	c.2A>G (n.2A>G)	ClinVar dbSNP
19	g.856167A=	CA2317361711	ELANE	c.3A= (n.3A=)
19	g.856167A>G	CA303945488	ELANE	c.3A>G (n.3A>G)	dbSNP gnomAD v4
19	g.856168G>A	CA2587805490	ELANE	c.4G>A (n.4G>A)	gnomAD v4
19	g.856170G>A	CA2587805492	ELANE	c.6G>A (n.6G>A)	gnomAD v4
19	g.856170G>T	CA2559967715	ELANE	c.6G>T (n.6G>T)	gnomAD v4
19	g.856172T>A	CA9026172	ELANE	c.8T>A (n.8T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856172T=	CA2317361712	ELANE	c.8T= (n.8T=)
19	g.856173G>A	CA9026173	ELANE	c.9G>A (n.9G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856173G=	CA2317361713	ELANE	c.9G= (n.9G=)
19	g.856176C=	CA2317361714	ELANE	c.12C= (n.12C=)
19	g.856176C>G	CA631295817	ELANE	c.12C>G (n.12C>G)	dbSNP gnomAD v2 gnomAD v4
19	g.856176C>T	CA303945495	ELANE	c.12C>T (n.12C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.856177G>A	CA9026174	ELANE	c.13G>A (n.13G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856177G=	CA2317361715	ELANE	c.13G= (n.13G=)
19	g.856178G>C	CA2587805497	ELANE	c.14G>C (n.14G>C)	gnomAD v4
19	g.856179G>A	CA631295818	ELANE	c.15G>A (n.15G>A)	dbSNP gnomAD v2 gnomAD v4
19	g.856179G>C	CA2510614337	ELANE	c.15G>C (n.15G>C)
19	g.856179G=	CA2317361716	ELANE	c.15G= (n.15G=)
19	g.856179G>T	CA16608330	ELANE	c.15G>T (n.15G>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.856180T>A	CA2576540531	ELANE	c.16T>A (n.16T>A)
19	g.856180T>C	CA2576540530	ELANE	c.16T>C (n.16T>C)
19	g.856181C>A	CA2576540532	ELANE	c.17C>A (n.17C>A)
19	g.856181C=	CA2317361717	ELANE	c.17C= (n.17C=)
19	g.856181C>G	CA9026175	ELANE	c.17C>G (n.17C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856181C>T	CA2317361718	ELANE	c.17C>T (n.17C>T)	dbSNP gnomAD v4
19	g.856182A>G	CA2587805506	ELANE	c.18A>G (n.18A>G)	gnomAD v4
19	g.856183C>T	CA2587805508	ELANE	c.19C>T (n.19C>T)	gnomAD v4
19	g.856184C>T	CA2587805510	ELANE	c.20C>T (n.20C>T)	gnomAD v4
19	g.856186C>A	CA2587805511	ELANE	c.22C>A (n.22C>A)	gnomAD v4
19	g.856188G>A	CA631295819	ELANE	c.24G>A (n.24G>A)	dbSNP gnomAD v2 gnomAD v4
19	g.856188G=	CA2317361719	ELANE	c.24G= (n.24G=)
19	g.856189C>A	CA631295820	ELANE	c.25C>A (n.25C>A)	dbSNP gnomAD v2 gnomAD v4
19	g.856189C=	CA2317361720	ELANE	c.25C= (n.25C=)
19	g.856190T>A	CA2317361722	ELANE	c.26T>A (n.26T>A)	dbSNP gnomAD v4
19	g.856190T>C	CA2317361723	ELANE	c.26T>C (n.26T>C)	dbSNP
19	g.856190T=	CA2317361721	ELANE	c.26T= (n.26T=)
19	g.856191G>A	CA303945510	ELANE	c.27G>A (n.27G>A)	dbSNP
19	g.856191G=	CA2317361724	ELANE	c.27G= (n.27G=)
19	g.856193C=	CA2317361725	ELANE	c.29C= (n.29C=)
19	g.856193C>G	CA9026176	ELANE	c.29C>G (n.29C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856193C>T	CA9026177	ELANE	c.29C>T (n.29C>T)	dbSNP ExAC gnomAD v4
19	g.856194C>A	CA2587805515	ELANE	c.30C>A (n.30C>A)	gnomAD v4
19	g.856196C>A	CA2587805516	ELANE	c.32C>A (n.32C>A)	gnomAD v4
19	g.856196C=	CA2317361726	ELANE	c.32C= (n.32C=)
19	g.856196C>T	CA9026178	ELANE	c.32C>T (n.32C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856197A>G	CA2587805517	ELANE	c.33A>G (n.33A>G)	gnomAD v4
19	g.856197A>T	CA2587805518	ELANE	c.33A>T (n.33A>T)	gnomAD v4
19	g.856198C>A	CA2587805520	ELANE	c.34C>A (n.34C>A)	gnomAD v4
19	g.856199C>A	CA2576540533	ELANE	c.35C>A (n.35C>A)	gnomAD v4
19	g.856200C>A	CA2587805522	ELANE	c.36C>A (n.36C>A)	gnomAD v4
19	g.856200C=	CA2317361727	ELANE	c.36C= (n.36C=)
19	g.856200C>T	CA631295821	ELANE	c.36C>T (n.36C>T)	dbSNP gnomAD v2
19	g.856201A=	CA2317361728	ELANE	c.37A= (n.37A=)
19	g.856201A>G	CA2317361729	ELANE	c.37A>G (n.37A>G)	dbSNP
19	g.856202C>A	CA2587805523	ELANE	c.38C>A (n.38C>A)	gnomAD v4
19	g.856202C>G	CA2741604202	ELANE	c.38C>G (n.38C>G)

Number of alleles fetched