Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.853307_853310dup	CA2580096960	ELANE	c.270_273dup (p.Arg92AlafsTer?)	ClinVar
19	g.853309G>A	CA402915938	ELANE	c.272G>A (p.Arg91Gln)	dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.853309G>C	CA402915941	ELANE	c.272G>C (p.Arg91Pro)	ClinVar dbSNP gnomAD v4
19	g.853309G=	CA2317360146	ELANE	c.272G= (p.Arg91=)
19	g.853309G>T	CA402915943	ELANE	c.272G>T (p.Arg91Leu)	gnomAD v4
19	g.853310G>A	CA504684945	ELANE	c.273G>A (p.Arg91=)	gnomAD v4
19	g.853310G>C	CA504684947	ELANE	c.273G>C (p.Arg91=)
19	g.853310G>T	CA504684946	ELANE	c.273G>T (p.Arg91=)
19	g.853310_853311insTCC	CA2576540467	ELANE	c.273_274insTCC (p.Arg91_Arg92insSer)
19	g.853311C>A	CA504684948	ELANE	c.274C>A (p.Arg92=)
19	g.853311C=	CA2317360147	ELANE	c.274C= (p.Arg92=)
19	g.853311C>G	CA402915945	ELANE	c.274C>G (p.Arg92Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853311C>T	CA402915946	ELANE	c.274C>T (p.Arg92Trp)	gnomAD v4
19	g.853312G>A	CA9025990	ELANE	c.275G>A (p.Arg92Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.853312G>C	CA402915947	ELANE	c.275G>C (p.Arg92Pro)
19	g.853312G=	CA2317360148	ELANE	c.275G= (p.Arg92=)
19	g.853312G>T	CA402915949	ELANE	c.275G>T (p.Arg92Leu)
19	g.853313G>A	CA504684949	ELANE	c.276G>A (p.Arg92=)
19	g.853313G>C	CA504684950	ELANE	c.276G>C (p.Arg92=)
19	g.853313G>T	CA504684951	ELANE	c.276G>T (p.Arg92=)
19	g.853314G>A	CA9025991	ELANE	c.277G>A (p.Glu93Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853314G>C	CA402915951	ELANE	c.277G>C (p.Glu93Gln)
19	g.853314G=	CA2317360149	ELANE	c.277G= (p.Glu93=)
19	g.853314G>T	CA402915952	ELANE	c.277G>T (p.Glu93Ter)
19	g.853315A>C	CA402915960	ELANE	c.278A>C (p.Glu93Ala)
19	g.853315A>G	CA402915955	ELANE	c.278A>G (p.Glu93Gly)
19	g.853315A>T	CA402915957	ELANE	c.278A>T (p.Glu93Val)
19	g.853316G>A	CA504684952	ELANE	c.279G>A (p.Glu93=)
19	g.853316G>C	CA402915963	ELANE	c.279G>C (p.Glu93Asp)
19	g.853316G=	CA2317360150	ELANE	c.279G= (p.Glu93=)
19	g.853316G>T	CA402915966	ELANE	c.279G>T (p.Glu93Asp)	dbSNP gnomAD v3 gnomAD v4
19	g.853317C>A	CA402915969	ELANE	c.280C>A (p.Pro94Thr)	ClinVar dbSNP gnomAD v4
19	g.853317C=	CA2317360151	ELANE	c.280C= (p.Pro94=)
19	g.853317C>G	CA402915975	ELANE	c.280C>G (p.Pro94Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853317C>T	CA402915979	ELANE	c.280C>T (p.Pro94Ser)	gnomAD v4
19	g.853318C>A	CA402915985	ELANE	c.281C>A (p.Pro94His)	dbSNP gnomAD v3 gnomAD v4
19	g.853318C=	CA2317360152	ELANE	c.281C= (p.Pro94=)
19	g.853318C>G	CA402915988	ELANE	c.281C>G (p.Pro94Arg)
19	g.853318C>T	CA402915986	ELANE	c.281C>T (p.Pro94Leu)
19	g.853319C>A	CA504684953	ELANE	c.282C>A (p.Pro94=)
19	g.853319C>G	CA504684954	ELANE	c.282C>G (p.Pro94=)
19	g.853319C>T	CA504684955	ELANE	c.282C>T (p.Pro94=)	ClinVar gnomAD v4
19	g.853320A>C	CA402915989	ELANE	c.283A>C (p.Thr95Pro)
19	g.853320A>G	CA402915990	ELANE	c.283A>G (p.Thr95Ala)
19	g.853320A>T	CA402915991	ELANE	c.283A>T (p.Thr95Ser)
19	g.853320_853321insTAACCTCT	CA2576540468	ELANE	c.283_284insTAACCTCT (p.Thr95IlefsTer21)
19	g.853321C>A	CA402915992	ELANE	c.284C>A (p.Thr95Asn)
19	g.853321C=	CA2317360153	ELANE	c.284C= (p.Thr95=)
19	g.853321C>G	CA402915994	ELANE	c.284C>G (p.Thr95Ser)	ClinVar dbSNP
19	g.853321C>T	CA9025992	ELANE	c.284C>T (p.Thr95Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853322C>A	CA504684956	ELANE	c.285C>A (p.Thr95=)
19	g.853322C=	CA2317360154	ELANE	c.285C= (p.Thr95=)
19	g.853322C>G	CA9025993	ELANE	c.285C>G (p.Thr95=)	dbSNP ExAC gnomAD v2
19	g.853322C>T	CA303943268	ELANE	c.285C>T (p.Thr95=)	dbSNP
19	g.853323C>A	CA504684957	ELANE	c.286C>A (p.Arg96=)	dbSNP gnomAD v2 gnomAD v4
19	g.853323C=	CA2317360155	ELANE	c.286C= (p.Arg96=)
19	g.853323C>G	CA402916001	ELANE	c.286C>G (p.Arg96Gly)
19	g.853323C>T	CA9025994	ELANE	c.286C>T (p.Arg96Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853324G>A	CA402916007	ELANE	c.287G>A (p.Arg96Gln)	gnomAD v4
19	g.853324G>C	CA402916008	ELANE	c.287G>C (p.Arg96Pro)	ClinVar gnomAD v4
19	g.853324G=	CA2317360156	ELANE	c.287G= (p.Arg96=)
19	g.853324G>T	CA303943271	ELANE	c.287G>T (p.Arg96Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.853325G>A	CA504684958	ELANE	c.288G>A (p.Arg96=)	dbSNP gnomAD v2 gnomAD v4
19	g.853325G>C	CA504684960	ELANE	c.288G>C (p.Arg96=)
19	g.853325G=	CA2317360157	ELANE	c.288G= (p.Arg96=)
19	g.853325G>T	CA504684959	ELANE	c.288G>T (p.Arg96=)	gnomAD v4
19	g.853329_853343del	CA2695227788	ELANE	c.292_306del (p.Val98_Gln102del)
19	g.853326C>A	CA402916015	ELANE	c.289C>A (p.Gln97Lys)
19	g.853326C>G	CA402916012	ELANE	c.289C>G (p.Gln97Glu)
19	g.853326C>T	CA402916011	ELANE	c.289C>T (p.Gln97Ter)
19	g.853326_853337dup	CA2580096961	ELANE	c.289_300dup (p.Ala100_Val101insGlnValPheAla)	ClinVar dbSNP
19	g.853327A=	CA2317360158	ELANE	c.290A= (p.Gln97=)
19	g.853327A>C	CA402916021	ELANE	c.290A>C (p.Gln97Pro)	ClinVar dbSNP COSMIC
19	g.853327A>G	CA402916018	ELANE	c.290A>G (p.Gln97Arg)
19	g.853327A>T	CA402916023	ELANE	c.290A>T (p.Gln97Leu)
19	g.853328G>A	CA504684961	ELANE	c.291G>A (p.Gln97=)
19	g.853328G>C	CA402916025	ELANE	c.291G>C (p.Gln97His)
19	g.853328G>T	CA402916027	ELANE	c.291G>T (p.Gln97His)
19	g.853329G>A	CA402916032	ELANE	c.292G>A (p.Val98Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853329G>C	CA402916035	ELANE	c.292G>C (p.Val98Leu)
19	g.853329G=	CA2317360159	ELANE	c.292G= (p.Val98=)
19	g.853329G>T	CA084207	ELANE	c.292G>T (p.Val98Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.[853329G>T;853338G>T]	CA084432	ELANE	c.[292G>T;301G>T] (p.[Val98Leu;Val101Leu])
19	g.853331_853332dup	CA2587805076	ELANE	c.294_295dup (p.Phe99CysfsTer15)	gnomAD v4
19	g.853329_853338delinsTTGTTCGCCT	CA2695227789	ELANE	c.292_301delinsTTGTTCGCCT (p.Val98_Val101delinsLeuPheAlaLeu)
19	g.853330T>A	CA402916038	ELANE	c.293T>A (p.Val98Glu)
19	g.853330T>C	CA402916043	ELANE	c.293T>C (p.Val98Ala)
19	g.853330T>G	CA402916041	ELANE	c.293T>G (p.Val98Gly)	ClinVar dbSNP
19	g.853331G>A	CA504684962	ELANE	c.294G>A (p.Val98=)	dbSNP
19	g.853331G>C	CA504684963	ELANE	c.294G>C (p.Val98=)
19	g.853331G=	CA2317360160	ELANE	c.294G= (p.Val98=)
19	g.853331G>T	CA504684964	ELANE	c.294G>T (p.Val98=)
19	g.853332T>A	CA402916047	ELANE	c.295T>A (p.Phe99Ile)
19	g.853332T>C	CA402916051	ELANE	c.295T>C (p.Phe99Leu)	ClinVar
19	g.853332T>G	CA402916053	ELANE	c.295T>G (p.Phe99Val)
19	g.853332_853337dup	CA2695227790	ELANE	c.295_300dup (p.Ala100_Val101insPheAla)
19	g.853333T>A	CA402916056	ELANE	c.296T>A (p.Phe99Tyr)
19	g.853333T>C	CA16622124	ELANE	c.296T>C (p.Phe99Ser)
19	g.853333T>G	CA402916061	ELANE	c.296T>G (p.Phe99Cys)
19	g.853334C>A	CA402916064	ELANE	c.297C>A (p.Phe99Leu)
19	g.853334C=	CA2317360161	ELANE	c.297C= (p.Phe99=)
19	g.853334C>G	CA9025995	ELANE	c.297C>G (p.Phe99Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.853334C>T	CA504684966	ELANE	c.297C>T (p.Phe99=)
19	g.853335G>A	CA402916069	ELANE	c.298G>A (p.Ala100Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.853335G>C	CA402916071	ELANE	c.298G>C (p.Ala100Pro)
19	g.853335G=	CA2317360162	ELANE	c.298G= (p.Ala100=)
19	g.853335G>T	CA303943280	ELANE	c.298G>T (p.Ala100Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853336C>A	CA402916081	ELANE	c.299C>A (p.Ala100Asp)
19	g.853336C>G	CA402916077	ELANE	c.299C>G (p.Ala100Gly)
19	g.853336C>T	CA402916079	ELANE	c.299C>T (p.Ala100Val)
19	g.853337dup	CA2573155741	ELANE	c.300dup (p.Val101ArgfsTer?)	ClinVar dbSNP
19	g.853337C>A	CA504684967	ELANE	c.300C>A (p.Ala100=)	COSMIC
19	g.853337C=	CA2317360163	ELANE	c.300C= (p.Ala100=)
19	g.853337C>G	CA504684968	ELANE	c.300C>G (p.Ala100=)	gnomAD v4
19	g.853337C>T	CA303943292	ELANE	c.300C>T (p.Ala100=)	ClinVar dbSNP gnomAD v4
19	g.853338G>A	CA303943293	ELANE	c.301G>A (p.Val101Met)	ClinVar dbSNP gnomAD v4
19	g.853338G>C	CA402916088	ELANE	c.301G>C (p.Val101Leu)	COSMIC
19	g.853338G=	CA2317360164	ELANE	c.301G= (p.Val101=)
19	g.853338G>T	CA084287	ELANE	c.301G>T (p.Val101Leu)	dbSNP gnomAD v4
19	g.853339T>A	CA402916092	ELANE	c.302T>A (p.Val101Glu)
19	g.853339T>C	CA402916095	ELANE	c.302T>C (p.Val101Ala)
19	g.853339T>G	CA402916099	ELANE	c.302T>G (p.Val101Gly)
19	g.853340G>A	CA504684970	ELANE	c.303G>A (p.Val101=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.853340G>C	CA504684971	ELANE	c.303G>C (p.Val101=)
19	g.853340G=	CA2317360165	ELANE	c.303G= (p.Val101=)
19	g.853340G>T	CA504684972	ELANE	c.303G>T (p.Val101=)
19	g.853341C>A	CA402916101	ELANE	c.304C>A (p.Gln102Lys)	dbSNP gnomAD v4
19	g.853341C=	CA2317360166	ELANE	c.304C= (p.Gln102=)
19	g.853341C>G	CA9025996	ELANE	c.304C>G (p.Gln102Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853341C>T	CA402916104	ELANE	c.304C>T (p.Gln102Ter)
19	g.853342A=	CA2317360167	ELANE	c.305A= (p.Gln102=)
19	g.853342A>C	CA402916111	ELANE	c.305A>C (p.Gln102Pro)	ClinVar dbSNP
19	g.853342A>G	CA303943298	ELANE	c.305A>G (p.Gln102Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853342A>T	CA402916107	ELANE	c.305A>T (p.Gln102Leu)
19	g.853343G>A	CA504684973	ELANE	c.306G>A (p.Gln102=)
19	g.853343G>C	CA402916114	ELANE	c.306G>C (p.Gln102His)	gnomAD v4
19	g.853343G>T	CA402916117	ELANE	c.306G>T (p.Gln102His)	gnomAD v4
19	g.853344C>A	CA9025997	ELANE	c.307C>A (p.Arg103Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.853344C=	CA2317360168	ELANE	c.307C= (p.Arg103=)
19	g.853344C>G	CA402916118	ELANE	c.307C>G (p.Arg103Gly)
19	g.853344C>T	CA402916119	ELANE	c.307C>T (p.Arg103Cys)
19	g.853345G>A	CA9025998	ELANE	c.308G>A (p.Arg103His)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853345G>C	CA402916128	ELANE	c.308G>C (p.Arg103Pro)	ClinVar dbSNP
19	g.853345G=	CA2317360169	ELANE	c.308G= (p.Arg103=)
19	g.853345G>T	CA16620913	ELANE	c.308G>T (p.Arg103Leu)	ClinVar dbSNP
19	g.853346C>A	CA504684976	ELANE	c.309C>A (p.Arg103=)
19	g.853346C>G	CA504684977	ELANE	c.309C>G (p.Arg103=)
19	g.853346C>T	CA504684975	ELANE	c.309C>T (p.Arg103=)
19	g.853347A>C	CA402916132	ELANE	c.310A>C (p.Ile104Leu)
19	g.853347A>G	CA402916134	ELANE	c.310A>G (p.Ile104Val)
19	g.853347A>T	CA402916136	ELANE	c.310A>T (p.Ile104Phe)
19	g.853348T>A	CA402916145	ELANE	c.311T>A (p.Ile104Asn)
19	g.853348T>C	CA402916143	ELANE	c.311T>C (p.Ile104Thr)
19	g.853348T>G	CA402916140	ELANE	c.311T>G (p.Ile104Ser)
19	g.853349C>A	CA504684980	ELANE	c.312C>A (p.Ile104=)
19	g.853349C>G	CA402916147	ELANE	c.312C>G (p.Ile104Met)	gnomAD v4
19	g.853349C>T	CA504684979	ELANE	c.312C>T (p.Ile104=)
19	g.853350T>A	CA402916149	ELANE	c.313T>A (p.Phe105Ile)
19	g.853350T>C	CA402916152	ELANE	c.313T>C (p.Phe105Leu)	dbSNP gnomAD v2 gnomAD v4
19	g.853350T>G	CA402916155	ELANE	c.313T>G (p.Phe105Val)
19	g.853350T=	CA2317360170	ELANE	c.313T= (p.Phe105=)
19	g.853351T>A	CA402916157	ELANE	c.314T>A (p.Phe105Tyr)
19	g.853351T>C	CA402916160	ELANE	c.314T>C (p.Phe105Ser)
19	g.853351T>G	CA402916161	ELANE	c.314T>G (p.Phe105Cys)
19	g.853352C>A	CA402916164	ELANE	c.315C>A (p.Phe105Leu)
19	g.853352C=	CA2317360171	ELANE	c.315C= (p.Phe105=)
19	g.853352C>G	CA402916166	ELANE	c.315C>G (p.Phe105Leu)	ClinVar dbSNP gnomAD v4
19	g.853352C>T	CA504684981	ELANE	c.315C>T (p.Phe105=)	ClinVar gnomAD v4
19	g.853353G>A	CA402916170	ELANE	c.316G>A (p.Glu106Lys)	gnomAD v4
19	g.853353G>C	CA402916173	ELANE	c.316G>C (p.Glu106Gln)
19	g.853353G>T	CA402916175	ELANE	c.316G>T (p.Glu106Ter)
19	g.853354A>C	CA402916181	ELANE	c.317A>C (p.Glu106Ala)	ClinVar
19	g.853354A>G	CA402916183	ELANE	c.317A>G (p.Glu106Gly)	dbSNP
19	g.853354A>T	CA402916178	ELANE	c.317A>T (p.Glu106Val)
19	g.853355A>C	CA402916189	ELANE	c.318A>C (p.Glu106Asp)
19	g.853355A>G	CA504684982	ELANE	c.318A>G (p.Glu106=)	gnomAD v4
19	g.853355A>T	CA402916188	ELANE	c.318A>T (p.Glu106Asp)
19	g.853356A>C	CA402916194	ELANE	c.319A>C (p.Asn107His)
19	g.853356A>G	CA402916196	ELANE	c.319A>G (p.Asn107Asp)	ClinVar
19	g.853356A>T	CA402916198	ELANE	c.319A>T (p.Asn107Tyr)
19	g.853357A>C	CA402916201	ELANE	c.320A>C (p.Asn107Thr)
19	g.853357A>G	CA402916204	ELANE	c.320A>G (p.Asn107Ser)
19	g.853357A>T	CA402916206	ELANE	c.320A>T (p.Asn107Ile)
19	g.853359_853367del	CA2587805077	ELANE	c.322_330del (p.Gly108_Asp110del)	gnomAD v4
19	g.853358del	CA2587805078	ELANE	c.321del (p.Asn107LysfsTer6)	gnomAD v4
19	g.853358C>A	CA402916210	ELANE	c.321C>A (p.Asn107Lys)	dbSNP gnomAD v4
19	g.853358C=	CA2317360172	ELANE	c.321C= (p.Asn107=)
19	g.853358C>G	CA402916213	ELANE	c.321C>G (p.Asn107Lys)
19	g.853358C>T	CA9025999	ELANE	c.321C>T (p.Asn107=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853359G>A	CA402916218	ELANE	c.322G>A (p.Gly108Ser)	dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.853359G>C	CA402916220	ELANE	c.322G>C (p.Gly108Arg)	ClinVar dbSNP gnomAD v4
19	g.853359G=	CA2317360173	ELANE	c.322G= (p.Gly108=)
19	g.853359G>T	CA402916223	ELANE	c.322G>T (p.Gly108Cys)	ClinVar gnomAD v4
19	g.853360G>A	CA402916226	ELANE	c.323G>A (p.Gly108Asp)	dbSNP gnomAD v2 gnomAD v4
19	g.853360G>C	CA402916229	ELANE	c.323G>C (p.Gly108Ala)
19	g.853360G=	CA2317360174	ELANE	c.323G= (p.Gly108=)
19	g.853360G>T	CA402916227	ELANE	c.323G>T (p.Gly108Val)	gnomAD v4
19	g.853361del	CA2587805079	ELANE	c.324del (p.Tyr109ThrfsTer4)	gnomAD v4
19	g.853361C>A	CA504684983	ELANE	c.324C>A (p.Gly108=)	gnomAD v4 COSMIC
19	g.853361C>G	CA504684984	ELANE	c.324C>G (p.Gly108=)
19	g.853361C>T	CA504684985	ELANE	c.324C>T (p.Gly108=)	ClinVar dbSNP gnomAD v4
19	g.853362T>A	CA402916231	ELANE	c.325T>A (p.Tyr109Asn)
19	g.853362T>C	CA402916234	ELANE	c.325T>C (p.Tyr109His)
19	g.853362T>G	CA402916236	ELANE	c.325T>G (p.Tyr109Asp)
19	g.853363A>C	CA402916240	ELANE	c.326A>C (p.Tyr109Ser)
19	g.853363A>G	CA402916242	ELANE	c.326A>G (p.Tyr109Cys)
19	g.853363A>T	CA402916246	ELANE	c.326A>T (p.Tyr109Phe)
19	g.853364C>A	CA402916249	ELANE	c.327C>A (p.Tyr109Ter)
19	g.853364C=	CA2317360175	ELANE	c.327C= (p.Tyr109=)
19	g.853364C>G	CA402916251	ELANE	c.327C>G (p.Tyr109Ter)	dbSNP
19	g.853364C>T	CA504684986	ELANE	c.327C>T (p.Tyr109=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.853365G>A	CA402916253	ELANE	c.328G>A (p.Asp110Asn)	dbSNP
19	g.853365G>C	CA402916255	ELANE	c.328G>C (p.Asp110His)
19	g.853365G>T	CA402916258	ELANE	c.328G>T (p.Asp110Tyr)	gnomAD v4
19	g.853366A>C	CA402916265	ELANE	c.329A>C (p.Asp110Ala)
19	g.853366A>G	CA402916267	ELANE	c.329A>G (p.Asp110Gly)
19	g.853366A>T	CA402916263	ELANE	c.329A>T (p.Asp110Val)
19	g.853366_853367delinsAC	CA2317360176	ELANE	c.329_330delinsAC (p.Asp110=)
19	g.853367C>A	CA402916272	ELANE	c.330C>A (p.Asp110Glu)
19	g.853367C=	CA2317360177	ELANE	c.330C= (p.Asp110=)
19	g.853367C>G	CA402916274	ELANE	c.330C>G (p.Asp110Glu)
19	g.853367C>T	CA303943303	ELANE	c.330C>T (p.Asp110=)	dbSNP gnomAD v4
19	g.853370del	CA631007808	ELANE	c.333del (p.Val112Ter)	dbSNP gnomAD v2 gnomAD v4
19	g.853368C>A	CA402916278	ELANE	c.331C>A (p.Pro111Thr)	gnomAD v4
19	g.853368C>G	CA402916280	ELANE	c.331C>G (p.Pro111Ala)
19	g.853368C>T	CA402916283	ELANE	c.331C>T (p.Pro111Ser)
19	g.853369C>A	CA402916285	ELANE	c.332C>A (p.Pro111His)
19	g.853369C>G	CA402916288	ELANE	c.332C>G (p.Pro111Arg)
19	g.853369C>T	CA402916289	ELANE	c.332C>T (p.Pro111Leu)
19	g.853370C>A	CA504684987	ELANE	c.333C>A (p.Pro111=)
19	g.853370C=	CA2317360178	ELANE	c.333C= (p.Pro111=)
19	g.853370C>G	CA9026001	ELANE	c.333C>G (p.Pro111=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.853370C>T	CA9026000	ELANE	c.333C>T (p.Pro111=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853370_853373dup	CA2695227791	ELANE	c.333_336dup (p.Asn113ArgfsTer?)
19	g.853371G>A	CA9026002	ELANE	c.334G>A (p.Val112Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853371G>C	CA402916292	ELANE	c.334G>C (p.Val112Leu)
19	g.853371G=	CA2317360180	ELANE	c.334G= (p.Val112=)
19	g.853371G>T	CA402916295	ELANE	c.334G>T (p.Val112Leu)
19	g.853371_853395delinsGTAAACTTGCTCAACGACATCGTGA	CA2317360179	ELANE	c.334_358delinsGTAAACTTGCTCAACGACATCGTGA (p.Val112=)
19	g.853372T>A	CA402916305	ELANE	c.335T>A (p.Val112Glu)
19	g.853372T>C	CA402916299	ELANE	c.335T>C (p.Val112Ala)
19	g.853372T>G	CA402916304	ELANE	c.335T>G (p.Val112Gly)
19	g.853373_853396del	CA10583967	ELANE	c.336_359del (p.Asn113_Ile120del)	ClinVar dbSNP
19	g.853373A>C	CA504684988	ELANE	c.336A>C (p.Val112=)
19	g.853373A>G	CA504684989	ELANE	c.336A>G (p.Val112=)	ClinVar
19	g.853373A>T	CA504684990	ELANE	c.336A>T (p.Val112=)
19	g.853374A>C	CA402916306	ELANE	c.337A>C (p.Asn113His)
19	g.853374A>G	CA402916307	ELANE	c.337A>G (p.Asn113Asp)
19	g.853374A>T	CA402916310	ELANE	c.337A>T (p.Asn113Tyr)
19	g.853375A=	CA2317360181	ELANE	c.338A= (p.Asn113=)
19	g.853375A>C	CA402916314	ELANE	c.338A>C (p.Asn113Thr)
19	g.853375A>G	CA402916316	ELANE	c.338A>G (p.Asn113Ser)
19	g.853375A>T	CA9026003	ELANE	c.338A>T (p.Asn113Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853376C>A	CA402916320	ELANE	c.339C>A (p.Asn113Lys)
19	g.853376C>G	CA402916322	ELANE	c.339C>G (p.Asn113Lys)
19	g.853376C>T	CA504684991	ELANE	c.339C>T (p.Asn113=)
19	g.853377T>A	CA402916324	ELANE	c.340T>A (p.Leu114Met)
19	g.853377T>C	CA504684992	ELANE	c.340T>C (p.Leu114=)
19	g.853377T>G	CA402916326	ELANE	c.340T>G (p.Leu114Val)
19	g.853378T>A	CA402916328	ELANE	c.341T>A (p.Leu114Ter)
19	g.853378T>C	CA402916330	ELANE	c.341T>C (p.Leu114Ser)
19	g.853378T>G	CA402916332	ELANE	c.341T>G (p.Leu114Trp)
19	g.853379G>A	CA504684993	ELANE	c.342G>A (p.Leu114=)
19	g.853379G>C	CA402916335	ELANE	c.342G>C (p.Leu114Phe)
19	g.853379G=	CA2317360182	ELANE	c.342G= (p.Leu114=)
19	g.853379G>T	CA402916334	ELANE	c.342G>T (p.Leu114Phe)	ClinVar dbSNP gnomAD v4
19	g.853380C>A	CA9026004	ELANE	c.343C>A (p.Leu115Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.853380C=	CA2317360183	ELANE	c.343C= (p.Leu115=)
19	g.853380C>G	CA402916340	ELANE	c.343C>G (p.Leu115Val)
19	g.853380C>T	CA402916338	ELANE	c.343C>T (p.Leu115Phe)	gnomAD v4
19	g.853381T>A	CA402916341	ELANE	c.344T>A (p.Leu115His)
19	g.853381T>C	CA402916344	ELANE	c.344T>C (p.Leu115Pro)	gnomAD v4
19	g.853381T>G	CA402916342	ELANE	c.344T>G (p.Leu115Arg)
19	g.853382C>A	CA504684994	ELANE	c.345C>A (p.Leu115=)
19	g.853382C=	CA2317360184	ELANE	c.345C= (p.Leu115=)
19	g.853382C>G	CA504684995	ELANE	c.345C>G (p.Leu115=)
19	g.853382C>T	CA504684996	ELANE	c.345C>T (p.Leu115=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.853383A=	CA2317360185	ELANE	c.346A= (p.Asn116=)
19	g.853383A>C	CA402916346	ELANE	c.346A>C (p.Asn116His)
19	g.853383A>G	CA402916348	ELANE	c.346A>G (p.Asn116Asp)	dbSNP
19	g.853383A>T	CA402916349	ELANE	c.346A>T (p.Asn116Tyr)
19	g.853384A=	CA2317360186	ELANE	c.347A= (p.Asn116=)
19	g.853384A>C	CA402916351	ELANE	c.347A>C (p.Asn116Thr)
19	g.853384A>G	CA402916353	ELANE	c.347A>G (p.Asn116Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.853384A>T	CA402916355	ELANE	c.347A>T (p.Asn116Ile)
19	g.853385C>A	CA9026005	ELANE	c.348C>A (p.Asn116Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853385C=	CA2317360187	ELANE	c.348C= (p.Asn116=)
19	g.853385C>G	CA402916356	ELANE	c.348C>G (p.Asn116Lys)
19	g.853385C>T	CA504684997	ELANE	c.348C>T (p.Asn116=)	gnomAD v4
19	g.853386G>A	CA402916358	ELANE	c.349G>A (p.Asp117Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.853386G>C	CA402916360	ELANE	c.349G>C (p.Asp117His)	ClinVar
19	g.853386G=	CA2317360188	ELANE	c.349G= (p.Asp117=)
19	g.853386G>T	CA402916361	ELANE	c.349G>T (p.Asp117Tyr)	gnomAD v4
19	g.853387A=	CA2317360189	ELANE	c.350A= (p.Asp117=)
19	g.853387A>C	CA402916364	ELANE	c.350A>C (p.Asp117Ala)
19	g.853387A>G	CA9026006	ELANE	c.350A>G (p.Asp117Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853387A>T	CA402916365	ELANE	c.350A>T (p.Asp117Val)
19	g.853388C>A	CA402916367	ELANE	c.351C>A (p.Asp117Glu)
19	g.853388C=	CA2317360190	ELANE	c.351C= (p.Asp117=)
19	g.853388C>G	CA402916369	ELANE	c.351C>G (p.Asp117Glu)	dbSNP gnomAD v2 gnomAD v4
19	g.853388C>T	CA504684998	ELANE	c.351C>T (p.Asp117=)
19	g.853389A=	CA2317360191	ELANE	c.352A= (p.Ile118=)
19	g.853389A>C	CA402916371	ELANE	c.352A>C (p.Ile118Leu)
19	g.853389A>G	CA402916373	ELANE	c.352A>G (p.Ile118Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853389A>T	CA402916375	ELANE	c.352A>T (p.Ile118Phe)
19	g.853390T>A	CA402916377	ELANE	c.353T>A (p.Ile118Asn)	ClinVar dbSNP
19	g.853390T>C	CA402916378	ELANE	c.353T>C (p.Ile118Thr)
19	g.853390T>G	CA402916381	ELANE	c.353T>G (p.Ile118Ser)
19	g.853390T=	CA2317360192	ELANE	c.353T= (p.Ile118=)
19	g.853391C>A	CA504684999	ELANE	c.354C>A (p.Ile118=)	gnomAD v4
19	g.853391C=	CA2317360193	ELANE	c.354C= (p.Ile118=)
19	g.853391C>G	CA9026007	ELANE	c.354C>G (p.Ile118Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.853391C>T	CA504685000	ELANE	c.354C>T (p.Ile118=)	ClinVar dbSNP gnomAD v4
19	g.853392G>A	CA402916387	ELANE	c.355G>A (p.Val119Met)	dbSNP gnomAD v3 gnomAD v4
19	g.853392G>C	CA402916389	ELANE	c.355G>C (p.Val119Leu)	ClinVar
19	g.853392G=	CA2317360194	ELANE	c.355G= (p.Val119=)
19	g.853392G>T	CA402916384	ELANE	c.355G>T (p.Val119Leu)
19	g.853393T>A	CA402916392	ELANE	c.356T>A (p.Val119Glu)
19	g.853393T>C	CA402916394	ELANE	c.356T>C (p.Val119Ala)
19	g.853393T>G	CA402916397	ELANE	c.356T>G (p.Val119Gly)
19	g.853394G>A	CA504685003	ELANE	c.357G>A (p.Val119=)	dbSNP gnomAD v3 gnomAD v4
19	g.853394G>C	CA504685002	ELANE	c.357G>C (p.Val119=)
19	g.853394G=	CA2317360195	ELANE	c.357G= (p.Val119=)
19	g.853394G>T	CA504685001	ELANE	c.357G>T (p.Val119=)	gnomAD v4
19	g.853395A=	CA2317360196	ELANE	c.358A= (p.Ile120=)
19	g.853395A>C	CA402916400	ELANE	c.358A>C (p.Ile120Leu)
19	g.853395A>G	CA402916402	ELANE	c.358A>G (p.Ile120Val)
19	g.853395A>T	CA402916404	ELANE	c.358A>T (p.Ile120Phe)	ClinVar dbSNP
19	g.853396T>A	CA402916407	ELANE	c.359T>A (p.Ile120Asn)
19	g.853396T>C	CA402916411	ELANE	c.359T>C (p.Ile120Thr)
19	g.853396T>G	CA402916409	ELANE	c.359T>G (p.Ile120Ser)
19	g.853396_853398delinsATT	CA2695227792	ELANE	c.359_361delinsATT (p.Ile120_Leu121delinsAsnPhe)
19	g.853397T>A	CA504685004	ELANE	c.360T>A (p.Ile120=)
19	g.853397T>C	CA504685005	ELANE	c.360T>C (p.Ile120=)
19	g.853397T>G	CA402916415	ELANE	c.360T>G (p.Ile120Met)
19	g.853398C>A	CA402916418	ELANE	c.361C>A (p.Leu121Ile)
19	g.853398C>G	CA402916419	ELANE	c.361C>G (p.Leu121Val)
19	g.853398C>T	CA402916422	ELANE	c.361C>T (p.Leu121Phe)	gnomAD v4
19	g.853399T>A	CA402916425	ELANE	c.362T>A (p.Leu121His)
19	g.853399T>C	CA402916428	ELANE	c.362T>C (p.Leu121Pro)
19	g.853399T>G	CA402916427	ELANE	c.362T>G (p.Leu121Arg)	ClinVar
19	g.853400C>A	CA504685006	ELANE	c.363C>A (p.Leu121=)	gnomAD v4
19	g.853400C=	CA2317360197	ELANE	c.363C= (p.Leu121=)
19	g.853400C>G	CA9026008	ELANE	c.363C>G (p.Leu121=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.853400C>T	CA504685007	ELANE	c.363C>T (p.Leu121=)
19	g.853401del	CA2560332857	ELANE	c.364del (p.Gln122SerfsTer?)
19	g.853401C>A	CA402916431	ELANE	c.364C>A (p.Gln122Lys)
19	g.853401C=	CA2317360198	ELANE	c.364C= (p.Gln122=)
19	g.853401C>G	CA402916433	ELANE	c.364C>G (p.Gln122Glu)
19	g.853401C>T	CA402916436	ELANE	c.364C>T (p.Gln122Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.853402A>C	CA402916440	ELANE	c.365A>C (p.Gln122Pro)	gnomAD v4
19	g.853402A>G	CA402916442	ELANE	c.365A>G (p.Gln122Arg)	gnomAD v4
19	g.853402A>T	CA402916445	ELANE	c.365A>T (p.Gln122Leu)
19	g.853403G>A	CA504685008	ELANE	c.366G>A (p.Gln122=)
19	g.853403G>C	CA402916446	ELANE	c.366G>C (p.Gln122His)
19	g.853403G>T	CA402916449	ELANE	c.366G>T (p.Gln122His)
19	g.853404G>A	CA402916452	ELANE	c.366+1G>A (n.366+1G>A)
19	g.853404G>C	CA402916454	ELANE	c.366+1G>C (n.366+1G>C)
19	g.853404G>T	CA402916457	ELANE	c.366+1G>T (n.366+1G>T)
19	g.853405T>A	CA402916467	ELANE	c.366+2T>A (n.366+2T>A)
19	g.853405T>C	CA402916475	ELANE	c.366+2T>C (n.366+2T>C)	dbSNP gnomAD v2 gnomAD v4
19	g.853405T>G	CA402916465	ELANE	c.366+2T>G (n.366+2T>G)
19	g.853405T=	CA2317360199	ELANE	c.366+2T= (n.366+2T=)
19	g.853407C=	CA2317360200	ELANE	c.366+4C= (n.366+4C=)
19	g.853407C>T	CA303943326	ELANE	c.366+4C>T (n.366+4C>T)	dbSNP
19	g.853408C>A	CA2813227038	ELANE	c.366+5C>A (n.366+5C>A)
19	g.853408C=	CA2317360201	ELANE	c.366+5C= (n.366+5C=)
19	g.853408C>T	CA504685009	ELANE	c.366+5C>T (n.366+5C>T)	dbSNP gnomAD v3 gnomAD v4
19	g.853409G>A	CA2587805080	ELANE	c.366+6G>A (n.366+6G>A)	gnomAD v4
19	g.853409G=	CA2317360202	ELANE	c.366+6G= (n.366+6G=)
19	g.853409G>T	CA884313455	ELANE	c.366+6G>T (n.366+6G>T)	dbSNP

Number of alleles fetched