Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.852880C>A	CA504684596	ELANE	c.72C>A (p.Thr24=)	gnomAD v4
19	g.852880C>G	CA504684598	ELANE	c.72C>G (p.Thr24=)
19	g.852880C>T	CA504684600	ELANE	c.72C>T (p.Thr24=)	gnomAD v4
19	g.852881G>A	CA402914293	ELANE	c.73G>A (p.Ala25Thr)	ClinVar gnomAD v4
19	g.852881G>C	CA402914292	ELANE	c.73G>C (p.Ala25Pro)
19	g.852881G>T	CA402914291	ELANE	c.73G>T (p.Ala25Ser)	gnomAD v4
19	g.852882C>A	CA402914294	ELANE	c.74C>A (p.Ala25Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.852882C=	CA2317360063	ELANE	c.74C= (p.Ala25=)
19	g.852882C>G	CA402914296	ELANE	c.74C>G (p.Ala25Gly)
19	g.852882C>T	CA402914297	ELANE	c.74C>T (p.Ala25Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.852883G>A	CA9025928	ELANE	c.75G>A (p.Ala25=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852883G>C	CA504684606	ELANE	c.75G>C (p.Ala25=)
19	g.852883G=	CA2317360065	ELANE	c.75G= (p.Ala25=)
19	g.852883G>T	CA504684607	ELANE	c.75G>T (p.Ala25=)	gnomAD v4
19	g.852884C>A	CA402914300	ELANE	c.76C>A (p.Leu26Met)
19	g.852884C>G	CA402914301	ELANE	c.76C>G (p.Leu26Val)
19	g.852884C>T	CA504684609	ELANE	c.76C>T (p.Leu26=)
19	g.852885T>A	CA402914303	ELANE	c.77T>A (p.Leu26Gln)
19	g.852885T>C	CA10583959	ELANE	c.77T>C (p.Leu26Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.852885T>G	CA402914305	ELANE	c.77T>G (p.Leu26Arg)
19	g.852885T=	CA2317360067	ELANE	c.77T= (p.Leu26=)
19	g.852886G>A	CA504684610	ELANE	c.78G>A (p.Leu26=)
19	g.852886G>C	CA504684611	ELANE	c.78G>C (p.Leu26=)
19	g.852886G>T	CA504684612	ELANE	c.78G>T (p.Leu26=)	gnomAD v4
19	g.852887G>A	CA402914306	ELANE	c.79G>A (p.Ala27Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.852887G>C	CA402914307	ELANE	c.79G>C (p.Ala27Pro)
19	g.852887G=	CA2317360069	ELANE	c.79G= (p.Ala27=)
19	g.852887G>T	CA402914309	ELANE	c.79G>T (p.Ala27Ser)	gnomAD v4
19	g.852888C>A	CA402914314	ELANE	c.80C>A (p.Ala27Asp)	ClinVar gnomAD v4
19	g.852888C>G	CA402914311	ELANE	c.80C>G (p.Ala27Gly)
19	g.852888C>T	CA402914312	ELANE	c.80C>T (p.Ala27Val)	gnomAD v4 COSMIC
19	g.852889C>A	CA504684615	ELANE	c.81C>A (p.Ala27=)
19	g.852889C>G	CA504684616	ELANE	c.81C>G (p.Ala27=)
19	g.852889C>T	CA504684617	ELANE	c.81C>T (p.Ala27=)	ClinVar dbSNP gnomAD v4
19	g.852890T>A	CA402914315	ELANE	c.82T>A (p.Ser28Thr)
19	g.852890T>C	CA402914319	ELANE	c.82T>C (p.Ser28Pro)
19	g.852890T>G	CA402914317	ELANE	c.82T>G (p.Ser28Ala)
19	g.852891C>A	CA402914321	ELANE	c.83C>A (p.Ser28Ter)	gnomAD v4
19	g.852891C=	CA2317360070	ELANE	c.83C= (p.Ser28=)
19	g.852891C>G	CA402914323	ELANE	c.83C>G (p.Ser28Trp)
19	g.852891C>T	CA402914322	ELANE	c.83C>T (p.Ser28Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.852892G>A	CA504684622	ELANE	c.84G>A (p.Ser28=)	gnomAD v4
19	g.852892G>C	CA504684623	ELANE	c.84G>C (p.Ser28=)
19	g.852892G>T	CA504684624	ELANE	c.84G>T (p.Ser28=)	gnomAD v4
19	g.852893G>A	CA402914325	ELANE	c.85G>A (p.Glu29Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.852893G>C	CA402914329	ELANE	c.85G>C (p.Glu29Gln)
19	g.852893G=	CA2317360072	ELANE	c.85G= (p.Glu29=)
19	g.852893G>T	CA402914327	ELANE	c.85G>T (p.Glu29Ter)	gnomAD v4
19	g.852894A>C	CA402914330	ELANE	c.86A>C (p.Glu29Ala)
19	g.852894A>G	CA402914333	ELANE	c.86A>G (p.Glu29Gly)	gnomAD v4
19	g.852894A>T	CA402914331	ELANE	c.86A>T (p.Glu29Val)
19	g.852895G>A	CA504684625	ELANE	c.87G>A (p.Glu29=)
19	g.852895G>C	CA402914335	ELANE	c.87G>C (p.Glu29Asp)
19	g.852895G=	CA2317360073	ELANE	c.87G= (p.Glu29=)
19	g.852895G>T	CA402914337	ELANE	c.87G>T (p.Glu29Asp)	dbSNP gnomAD v4
19	g.852896A>C	CA402914338	ELANE	c.88A>C (p.Ile30Leu)
19	g.852896A>G	CA402914340	ELANE	c.88A>G (p.Ile30Val)
19	g.852896A>T	CA402914341	ELANE	c.88A>T (p.Ile30Phe)
19	g.852897T>A	CA402914343	ELANE	c.89T>A (p.Ile30Asn)
19	g.852897T>C	CA402914344	ELANE	c.89T>C (p.Ile30Thr)	gnomAD v4
19	g.852897T>G	CA402914345	ELANE	c.89T>G (p.Ile30Ser)
19	g.852898T>A	CA504684627	ELANE	c.90T>A (p.Ile30=)
19	g.852898T>C	CA504684629	ELANE	c.90T>C (p.Ile30=)	gnomAD v4
19	g.852898T>G	CA402914347	ELANE	c.90T>G (p.Ile30Met)	ClinVar dbSNP
19	g.852898T=	CA2317360075	ELANE	c.90T= (p.Ile30=)
19	g.852899del	CA2580096957	ELANE	c.91del (p.Val31TrpfsTer29)	ClinVar dbSNP gnomAD v4
19	g.852899G>A	CA402914349	ELANE	c.91G>A (p.Val31Met)	ClinVar dbSNP gnomAD v2
19	g.852899G>C	CA402914350	ELANE	c.91G>C (p.Val31Leu)
19	g.852899G>T	CA402914351	ELANE	c.91G>T (p.Val31Leu)	gnomAD v4
19	g.852899_852900delinsGT	CA2317360076	ELANE	c.91_92delinsGT (p.Val31=)
19	g.852900del	CA631295696	ELANE	c.92del (p.Val31GlyfsTer29)	dbSNP gnomAD v2 gnomAD v4
19	g.852900T>A	CA402914352	ELANE	c.92T>A (p.Val31Glu)
19	g.852900T>C	CA402914353	ELANE	c.92T>C (p.Val31Ala)	dbSNP gnomAD v2 gnomAD v4
19	g.852900T>G	CA402914354	ELANE	c.92T>G (p.Val31Gly)
19	g.852900T=	CA2317360078	ELANE	c.92T= (p.Val31=)
19	g.852901G>A	CA504684634	ELANE	c.93G>A (p.Val31=)	dbSNP gnomAD v4
19	g.852901G>C	CA504684635	ELANE	c.93G>C (p.Val31=)	gnomAD v4
19	g.852901G=	CA2317360081	ELANE	c.93G= (p.Val31=)
19	g.852901G>T	CA303942719	ELANE	c.93G>T (p.Val31=)	ClinVar dbSNP gnomAD v4 COSMIC
19	g.852906dup	CA504684637	ELANE	c.98dup (p.Arg34ProfsTer?)	gnomAD v4 COSMIC
19	g.852906del	CA645613900	ELANE	c.98del (p.Gly33AlafsTer27)	ClinVar gnomAD v4 COSMIC
19	g.852902G>A	CA402914356	ELANE	c.94G>A (p.Gly32Arg)
19	g.852902G>C	CA9025929	ELANE	c.94G>C (p.Gly32Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852902G=	CA2317360082	ELANE	c.94G= (p.Gly32=)
19	g.852902G>T	CA402914358	ELANE	c.94G>T (p.Gly32Trp)	gnomAD v4
19	g.852903G>A	CA402914359	ELANE	c.95G>A (p.Gly32Glu)	gnomAD v4
19	g.852903G>C	CA402914361	ELANE	c.95G>C (p.Gly32Ala)
19	g.852903G>T	CA402914363	ELANE	c.95G>T (p.Gly32Val)	gnomAD v4
19	g.852904G>A	CA9025930	ELANE	c.96G>A (p.Gly32=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852904G>C	CA9025931	ELANE	c.96G>C (p.Gly32=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852904G=	CA2317360084	ELANE	c.96G= (p.Gly32=)
19	g.852904G>T	CA504684644	ELANE	c.96G>T (p.Gly32=)	gnomAD v4
19	g.852905G>A	CA402914366	ELANE	c.97G>A (p.Gly33Ser)	gnomAD v4
19	g.852905G>C	CA402914367	ELANE	c.97G>C (p.Gly33Arg)
19	g.852905G>T	CA402914369	ELANE	c.97G>T (p.Gly33Cys)	gnomAD v4
19	g.852906G>A	CA9025932	ELANE	c.98G>A (p.Gly33Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852906G>C	CA402914372	ELANE	c.98G>C (p.Gly33Ala)
19	g.852906G=	CA2317360086	ELANE	c.98G= (p.Gly33=)
19	g.852906G>T	CA402914373	ELANE	c.98G>T (p.Gly33Val)	gnomAD v4
19	g.852907C>A	CA504684645	ELANE	c.99C>A (p.Gly33=)
19	g.852907C=	CA2317360088	ELANE	c.99C= (p.Gly33=)
19	g.852907C>G	CA504684646	ELANE	c.99C>G (p.Gly33=)	gnomAD v4
19	g.852907C>T	CA9025933	ELANE	c.99C>T (p.Gly33=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852908C>A	CA504684647	ELANE	c.100C>A (p.Arg34=)	gnomAD v4
19	g.852908C=	CA2317360090	ELANE	c.100C= (p.Arg34=)
19	g.852908C>G	CA402914376	ELANE	c.100C>G (p.Arg34Gly)
19	g.852908C>T	CA9025934	ELANE	c.100C>T (p.Arg34Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852909G>A	CA402914379	ELANE	c.101G>A (p.Arg34Gln)	gnomAD v4
19	g.852909G>C	CA402914380	ELANE	c.101G>C (p.Arg34Pro)
19	g.852909G>T	CA402914381	ELANE	c.101G>T (p.Arg34Leu)	ClinVar gnomAD v4
19	g.852910G>A	CA504684650	ELANE	c.102G>A (p.Arg34=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.852910G>C	CA504684651	ELANE	c.102G>C (p.Arg34=)
19	g.852910G=	CA2317360092	ELANE	c.102G= (p.Arg34=)
19	g.852910G>T	CA504684652	ELANE	c.102G>T (p.Arg34=)	ClinVar dbSNP gnomAD v4
19	g.852911C>A	CA504684653	ELANE	c.103C>A (p.Arg35=)	gnomAD v4
19	g.852911C=	CA2317360093	ELANE	c.103C= (p.Arg35=)
19	g.852911C>G	CA402914383	ELANE	c.103C>G (p.Arg35Gly)	gnomAD v4
19	g.852911C>T	CA9025935	ELANE	c.103C>T (p.Arg35Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852912G>A	CA9025936	ELANE	c.104G>A (p.Arg35Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852912G>C	CA402914386	ELANE	c.104G>C (p.Arg35Pro)
19	g.852912G=	CA2317360095	ELANE	c.104G= (p.Arg35=)
19	g.852912G>T	CA402914387	ELANE	c.104G>T (p.Arg35Leu)	gnomAD v4
19	g.852913A>C	CA504684657	ELANE	c.105A>C (p.Arg35=)
19	g.852913A>G	CA504684658	ELANE	c.105A>G (p.Arg35=)
19	g.852913A>T	CA504684659	ELANE	c.105A>T (p.Arg35=)
19	g.852914G>A	CA402914390	ELANE	c.106G>A (p.Ala36Thr)
19	g.852914G>C	CA402914391	ELANE	c.106G>C (p.Ala36Pro)
19	g.852914G>T	CA402914393	ELANE	c.106G>T (p.Ala36Ser)	gnomAD v4
19	g.852915C>A	CA402914398	ELANE	c.107C>A (p.Ala36Glu)	gnomAD v4
19	g.852915C=	CA2317360096	ELANE	c.107C= (p.Ala36=)
19	g.852915C>G	CA402914394	ELANE	c.107C>G (p.Ala36Gly)	ClinVar dbSNP gnomAD v4
19	g.852915C>T	CA402914396	ELANE	c.107C>T (p.Ala36Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.852916G>A	CA303942762	ELANE	c.108G>A (p.Ala36=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.852916G>C	CA504684663	ELANE	c.108G>C (p.Ala36=)
19	g.852916G=	CA2317360103	ELANE	c.108G= (p.Ala36=)
19	g.852916G>T	CA504684664	ELANE	c.108G>T (p.Ala36=)	dbSNP gnomAD v4
19	g.852917C>A	CA504684665	ELANE	c.109C>A (p.Arg37=)
19	g.852917C=	CA2317360105	ELANE	c.109C= (p.Arg37=)
19	g.852917C>G	CA402914400	ELANE	c.109C>G (p.Arg37Gly)	dbSNP gnomAD v2 gnomAD v4
19	g.852917C>T	CA402914402	ELANE	c.109C>T (p.Arg37Trp)	gnomAD v4
19	g.852918G>A	CA9025937	ELANE	c.110G>A (p.Arg37Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852918G>C	CA402914405	ELANE	c.110G>C (p.Arg37Pro)
19	g.852918G=	CA2317360106	ELANE	c.110G= (p.Arg37=)
19	g.852918G>T	CA402914408	ELANE	c.110G>T (p.Arg37Leu)	gnomAD v4
19	g.852919G>A	CA504684668	ELANE	c.111G>A (p.Arg37=)	gnomAD v4
19	g.852919G>C	CA504684669	ELANE	c.111G>C (p.Arg37=)
19	g.852919G>T	CA504684670	ELANE	c.111G>T (p.Arg37=)	gnomAD v4
19	g.852920C>A	CA402914413	ELANE	c.112C>A (p.Pro38Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.852920C=	CA2317360108	ELANE	c.112C= (p.Pro38=)
19	g.852920C>G	CA402914415	ELANE	c.112C>G (p.Pro38Ala)
19	g.852920C>T	CA402914417	ELANE	c.112C>T (p.Pro38Ser)	gnomAD v4
19	g.852921C>A	CA402914419	ELANE	c.113C>A (p.Pro38His)
19	g.852921C=	CA2317360109	ELANE	c.113C= (p.Pro38=)
19	g.852921C>G	CA402914421	ELANE	c.113C>G (p.Pro38Arg)
19	g.852921C>T	CA303942767	ELANE	c.113C>T (p.Pro38Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.852922C>A	CA504684676	ELANE	c.114C>A (p.Pro38=)	gnomAD v4
19	g.852922C=	CA2317360110	ELANE	c.114C= (p.Pro38=)
19	g.852922C>G	CA504684677	ELANE	c.114C>G (p.Pro38=)
19	g.852922C>T	CA303942769	ELANE	c.114C>T (p.Pro38=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.852923C>A	CA402914428	ELANE	c.115C>A (p.His39Asn)
19	g.852923C>G	CA402914427	ELANE	c.115C>G (p.His39Asp)
19	g.852923C>T	CA402914425	ELANE	c.115C>T (p.His39Tyr)	gnomAD v4
19	g.852924A>C	CA402914432	ELANE	c.116A>C (p.His39Pro)
19	g.852924A>G	CA402914431	ELANE	c.116A>G (p.His39Arg)	gnomAD v4
19	g.852924A>T	CA402914434	ELANE	c.116A>T (p.His39Leu)
19	g.852925C>A	CA9025938	ELANE	c.117C>A (p.His39Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852925C=	CA2317360111	ELANE	c.117C= (p.His39=)
19	g.852925C>G	CA402914435	ELANE	c.117C>G (p.His39Gln)	ClinVar
19	g.852925C>T	CA504684679	ELANE	c.117C>T (p.His39=)	dbSNP gnomAD v4 COSMIC
19	g.852926G>A	CA303942780	ELANE	c.118G>A (p.Ala40Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.852926G>C	CA402914437	ELANE	c.118G>C (p.Ala40Pro)	gnomAD v4
19	g.852926G=	CA2317360112	ELANE	c.118G= (p.Ala40=)
19	g.852926G>T	CA402914439	ELANE	c.118G>T (p.Ala40Ser)	gnomAD v4
19	g.852927C>A	CA402914444	ELANE	c.119C>A (p.Ala40Glu)	gnomAD v4
19	g.852927C=	CA2317360113	ELANE	c.119C= (p.Ala40=)
19	g.852927C>G	CA402914443	ELANE	c.119C>G (p.Ala40Gly)
19	g.852927C>T	CA402914441	ELANE	c.119C>T (p.Ala40Val)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19	g.852928G>A	CA504684683	ELANE	c.120G>A (p.Ala40=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.852928G>C	CA504684686	ELANE	c.120G>C (p.Ala40=)	gnomAD v4
19	g.852928G=	CA2317360114	ELANE	c.120G= (p.Ala40=)
19	g.852928G>T	CA504684684	ELANE	c.120G>T (p.Ala40=)	gnomAD v4
19	g.852929T>A	CA402914446	ELANE	c.121T>A (p.Trp41Arg)
19	g.852929T>C	CA402914448	ELANE	c.121T>C (p.Trp41Arg)
19	g.852929T>G	CA402914450	ELANE	c.121T>G (p.Trp41Gly)
19	g.852930G>A	CA402914451	ELANE	c.122G>A (p.Trp41Ter)
19	g.852930G>C	CA402914453	ELANE	c.122G>C (p.Trp41Ser)
19	g.852930G>T	CA402914459	ELANE	c.122G>T (p.Trp41Leu)	gnomAD v4
19	g.852931G>A	CA402914463	ELANE	c.123G>A (p.Trp41Ter)	gnomAD v4
19	g.852931G>C	CA402914468	ELANE	c.123G>C (p.Trp41Cys)
19	g.852931G>T	CA402914465	ELANE	c.123G>T (p.Trp41Cys)	gnomAD v4
19	g.852931_852932insA	CA2740091830	ELANE	c.123_124insA (p.Pro42ThrfsTer?)	ClinVar
19	g.852932C>A	CA402914470	ELANE	c.124C>A (p.Pro42Thr)
19	g.852932C=	CA2317360115	ELANE	c.124C= (p.Pro42=)
19	g.852932C>G	CA402914471	ELANE	c.124C>G (p.Pro42Ala)
19	g.852932C>T	CA303942787	ELANE	c.124C>T (p.Pro42Ser)	dbSNP gnomAD v4
19	g.852933C>A	CA402914474	ELANE	c.125C>A (p.Pro42His)
19	g.852933C>G	CA402914477	ELANE	c.125C>G (p.Pro42Arg)
19	g.852933C>T	CA402914480	ELANE	c.125C>T (p.Pro42Leu)	gnomAD v4
19	g.852934C>A	CA504684691	ELANE	c.126C>A (p.Pro42=)
19	g.852934C=	CA2317360116	ELANE	c.126C= (p.Pro42=)
19	g.852934C>G	CA504684693	ELANE	c.126C>G (p.Pro42=)
19	g.852934C>T	CA290719	ELANE	c.126C>T (p.Pro42=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852935T>A	CA402914484	ELANE	c.127T>A (p.Phe43Ile)
19	g.852935T>C	CA402914486	ELANE	c.127T>C (p.Phe43Leu)	ClinVar gnomAD v4
19	g.852935T>G	CA402914489	ELANE	c.127T>G (p.Phe43Val)
19	g.852936T>A	CA402914495	ELANE	c.128T>A (p.Phe43Tyr)	gnomAD v4
19	g.852936T>C	CA402914493	ELANE	c.128T>C (p.Phe43Ser)
19	g.852936T>G	CA402914492	ELANE	c.128T>G (p.Phe43Cys)
19	g.852937C>A	CA402914499	ELANE	c.129C>A (p.Phe43Leu)
19	g.852937C>G	CA402914501	ELANE	c.129C>G (p.Phe43Leu)	ClinVar
19	g.852937C>T	CA504684696	ELANE	c.129C>T (p.Phe43=)
19	g.852938A=	CA2317360117	ELANE	c.130A= (p.Met44=)
19	g.852938A>C	CA402914504	ELANE	c.130A>C (p.Met44Leu)
19	g.852938A>G	CA9025939	ELANE	c.130A>G (p.Met44Val)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852938A>T	CA402914507	ELANE	c.130A>T (p.Met44Leu)
19	g.852938_852949delinsATGGTGTCCCTG	CA2317360118	ELANE	c.130_141delinsATGGTGTCCCTG (p.Met44=)
19	g.852939T>A	CA402914514	ELANE	c.131T>A (p.Met44Lys)
19	g.852939T>C	CA402914512	ELANE	c.131T>C (p.Met44Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.852939T>G	CA402914510	ELANE	c.131T>G (p.Met44Arg)
19	g.852939T=	CA2317360119	ELANE	c.131T= (p.Met44=)
19	g.852939_852949del	CA631295707	ELANE	c.131_141del (p.Met44ThrfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.852940G>A	CA402914517	ELANE	c.132G>A (p.Met44Ile)	gnomAD v4
19	g.852940G>C	CA402914519	ELANE	c.132G>C (p.Met44Ile)
19	g.852940G>T	CA402914521	ELANE	c.132G>T (p.Met44Ile)	gnomAD v4
19	g.852941G>A	CA402914523	ELANE	c.133G>A (p.Val45Met)	ClinVar
19	g.852941G>C	CA402914526	ELANE	c.133G>C (p.Val45Leu)	ClinVar
19	g.852941G=	CA2317360121	ELANE	c.133G= (p.Val45=)
19	g.852941G>T	CA402914528	ELANE	c.133G>T (p.Val45Leu)	ClinVar dbSNP gnomAD v4
19	g.852941_852947delinsGTGTCCC	CA2317360120	ELANE	c.133_139delinsGTGTCCC (p.Val45=)
19	g.852942T>A	CA402914532	ELANE	c.134T>A (p.Val45Glu)
19	g.852942T>C	CA402914537	ELANE	c.134T>C (p.Val45Ala)	gnomAD v4
19	g.852942T>G	CA402914535	ELANE	c.134T>G (p.Val45Gly)	dbSNP gnomAD v3 gnomAD v4
19	g.852944_852949del	CA658824904	ELANE	c.136_141del (p.Ser46_Leu47del)	ClinVar dbSNP
19	g.852943G>A	CA504684703	ELANE	c.135G>A (p.Val45=)
19	g.852943G>C	CA504684705	ELANE	c.135G>C (p.Val45=)
19	g.852943G>T	CA504684704	ELANE	c.135G>T (p.Val45=)	gnomAD v4
19	g.852944T>A	CA402914541	ELANE	c.136T>A (p.Ser46Thr)
19	g.852944T>C	CA402914542	ELANE	c.136T>C (p.Ser46Pro)	ClinVar dbSNP
19	g.852944T>G	CA402914544	ELANE	c.136T>G (p.Ser46Ala)
19	g.852944T=	CA2317360122	ELANE	c.136T= (p.Ser46=)
19	g.852945C>A	CA10583957	ELANE	c.137C>A (p.Ser46Tyr)	ClinVar dbSNP
19	g.852945C=	CA2317360123	ELANE	c.137C= (p.Ser46=)
19	g.852945C>G	CA402914549	ELANE	c.137C>G (p.Ser46Cys)
19	g.852945C>T	CA16043127	ELANE	c.137C>T (p.Ser46Phe)	ClinVar dbSNP
19	g.852946C>A	CA504684706	ELANE	c.138C>A (p.Ser46=)	gnomAD v4
19	g.852946C>G	CA504684707	ELANE	c.138C>G (p.Ser46=)
19	g.852946C>T	CA504684710	ELANE	c.138C>T (p.Ser46=)	ClinVar dbSNP gnomAD v4
19	g.852947C>A	CA402914552	ELANE	c.139C>A (p.Leu47Met)
19	g.852947C>G	CA402914555	ELANE	c.139C>G (p.Leu47Val)	gnomAD v4
19	g.852947C>T	CA504684712	ELANE	c.139C>T (p.Leu47=)
19	g.852948T>A	CA402914559	ELANE	c.140T>A (p.Leu47Gln)
19	g.852948T>C	CA10583960	ELANE	c.140T>C (p.Leu47Pro)	ClinVar dbSNP gnomAD v4
19	g.852948T>G	CA402914562	ELANE	c.140T>G (p.Leu47Arg)
19	g.852948T=	CA2317360124	ELANE	c.140T= (p.Leu47=)
19	g.852949G>A	CA504684716	ELANE	c.141G>A (p.Leu47=)	dbSNP gnomAD v4
19	g.852949G>C	CA504684717	ELANE	c.141G>C (p.Leu47=)
19	g.852949G>T	CA504684718	ELANE	c.141G>T (p.Leu47=)	gnomAD v4
19	g.852950C>A	CA9025940	ELANE	c.142C>A (p.Gln48Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852950C=	CA2317360125	ELANE	c.142C= (p.Gln48=)
19	g.852950C>G	CA402914568	ELANE	c.142C>G (p.Gln48Glu)
19	g.852950C>T	CA402914566	ELANE	c.142C>T (p.Gln48Ter)	gnomAD v4
19	g.852951A>C	CA402914572	ELANE	c.143A>C (p.Gln48Pro)
19	g.852951A>G	CA402914575	ELANE	c.143A>G (p.Gln48Arg)	gnomAD v4
19	g.852951A>T	CA402914573	ELANE	c.143A>T (p.Gln48Leu)
19	g.852952del	CA2587804945	ELANE	c.144del (p.Gln48HisfsTer12)	gnomAD v4
19	g.852952G>A	CA504684720	ELANE	c.144G>A (p.Gln48=)	dbSNP gnomAD v2
19	g.852952G>C	CA402914577	ELANE	c.144G>C (p.Gln48His)
19	g.852952G=	CA2317360126	ELANE	c.144G= (p.Gln48=)
19	g.852952G>T	CA402914579	ELANE	c.144G>T (p.Gln48His)	gnomAD v4
19	g.852953C>A	CA402914583	ELANE	c.145C>A (p.Leu49Met)	gnomAD v4
19	g.852953C>G	CA402914584	ELANE	c.145C>G (p.Leu49Val)
19	g.852953C>T	CA504684722	ELANE	c.145C>T (p.Leu49=)	gnomAD v4
19	g.852954T>A	CA402914586	ELANE	c.146T>A (p.Leu49Gln)
19	g.852954T>C	CA402914587	ELANE	c.146T>C (p.Leu49Pro)	ClinVar dbSNP gnomAD v4
19	g.852954T>G	CA402914588	ELANE	c.146T>G (p.Leu49Arg)
19	g.852955G>A	CA504684723	ELANE	c.147G>A (p.Leu49=)
19	g.852955G>C	CA504684725	ELANE	c.147G>C (p.Leu49=)	dbSNP gnomAD v3 gnomAD v4
19	g.852955G=	CA2317360127	ELANE	c.147G= (p.Leu49=)
19	g.852955G>T	CA504684726	ELANE	c.147G>T (p.Leu49=)	gnomAD v4
19	g.852956C>A	CA402914590	ELANE	c.148C>A (p.Arg50Ser)	gnomAD v4
19	g.852956C>G	CA402914592	ELANE	c.148C>G (p.Arg50Gly)
19	g.852956C>T	CA402914594	ELANE	c.148C>T (p.Arg50Cys)	gnomAD v4
19	g.852957G>A	CA402914596	ELANE	c.149G>A (p.Arg50His)	dbSNP gnomAD v2 gnomAD v4
19	g.852957G>C	CA402914597	ELANE	c.149G>C (p.Arg50Pro)
19	g.852957G=	CA2317360128	ELANE	c.149G= (p.Arg50=)
19	g.852957G>T	CA402914601	ELANE	c.149G>T (p.Arg50Leu)	gnomAD v4
19	g.852958C>A	CA504684729	ELANE	c.150C>A (p.Arg50=)	ClinVar gnomAD v4
19	g.852958C=	CA2317360129	ELANE	c.150C= (p.Arg50=)
19	g.852958C>G	CA504684730	ELANE	c.150C>G (p.Arg50=)
19	g.852958C>T	CA9025941	ELANE	c.150C>T (p.Arg50=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852959G>A	CA402914609	ELANE	c.151G>A (p.Gly51Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.852959G>C	CA402914611	ELANE	c.151G>C (p.Gly51Arg)
19	g.852959G=	CA2317360130	ELANE	c.151G= (p.Gly51=)
19	g.852959G>T	CA402914614	ELANE	c.151G>T (p.Gly51Ter)	gnomAD v4
19	g.852960G>A	CA402914617	ELANE	c.152G>A (p.Gly51Glu)
19	g.852960G>C	CA402914619	ELANE	c.152G>C (p.Gly51Ala)
19	g.852960G>T	CA402914622	ELANE	c.152G>T (p.Gly51Val)	gnomAD v4
19	g.852961A>C	CA504684734	ELANE	c.153A>C (p.Gly51=)
19	g.852961A>G	CA504684735	ELANE	c.153A>G (p.Gly51=)	gnomAD v4
19	g.852961A>T	CA504684736	ELANE	c.153A>T (p.Gly51=)
19	g.852962G>A	CA402914625	ELANE	c.154G>A (p.Gly52Ser)	gnomAD v4
19	g.852962G>C	CA402914627	ELANE	c.154G>C (p.Gly52Arg)
19	g.852962G>T	CA402914628	ELANE	c.154G>T (p.Gly52Cys)	gnomAD v4
19	g.852963del	CA2587804955	ELANE	c.155del (p.Gly52AlafsTer8)	gnomAD v4
19	g.852963G>A	CA402914631	ELANE	c.155G>A (p.Gly52Asp)	gnomAD v4
19	g.852963G>C	CA402914633	ELANE	c.155G>C (p.Gly52Ala)
19	g.852963G>T	CA402914635	ELANE	c.155G>T (p.Gly52Val)	gnomAD v4
19	g.852964C>A	CA504684738	ELANE	c.156C>A (p.Gly52=)
19	g.852964C>G	CA504684739	ELANE	c.156C>G (p.Gly52=)
19	g.852964C>T	CA504684737	ELANE	c.156C>T (p.Gly52=)	gnomAD v4
19	g.852965C>A	CA402914642	ELANE	c.157C>A (p.His53Asn)	gnomAD v4
19	g.852965C=	CA2317360131	ELANE	c.157C= (p.His53=)
19	g.852965C>G	CA402914639	ELANE	c.157C>G (p.His53Asp)	ClinVar
19	g.852965C>T	CA402914636	ELANE	c.157C>T (p.His53Tyr)	ClinVar dbSNP gnomAD v4
19	g.852966A>C	CA402914652	ELANE	c.158A>C (p.His53Pro)	ClinVar
19	g.852966A>G	CA402914646	ELANE	c.158A>G (p.His53Arg)
19	g.852966A>T	CA402914649	ELANE	c.158A>T (p.His53Leu)	ClinVar
19	g.852967C>A	CA402914654	ELANE	c.159C>A (p.His53Gln)	gnomAD v4
19	g.852967C>G	CA402914656	ELANE	c.159C>G (p.His53Gln)	ClinVar dbSNP
19	g.852967C>T	CA504684741	ELANE	c.159C>T (p.His53=)	gnomAD v4
19	g.852968T>A	CA402914661	ELANE	c.160T>A (p.Phe54Ile)
19	g.852968T>C	CA402914663	ELANE	c.160T>C (p.Phe54Leu)	gnomAD v4
19	g.852968T>G	CA402914665	ELANE	c.160T>G (p.Phe54Val)
19	g.852969T>A	CA402914667	ELANE	c.161T>A (p.Phe54Tyr)
19	g.852969T>C	CA402914669	ELANE	c.161T>C (p.Phe54Ser)
19	g.852969T>G	CA402914670	ELANE	c.161T>G (p.Phe54Cys)
19	g.852969_852972delinsTCTG	CA2317360132	ELANE	c.161_164delinsTCTG (p.Phe54=)
19	g.852970C>A	CA402914671	ELANE	c.162C>A (p.Phe54Leu)	gnomAD v4
19	g.852970C>G	CA402914672	ELANE	c.162C>G (p.Phe54Leu)	gnomAD v4
19	g.852970C>T	CA504684743	ELANE	c.162C>T (p.Phe54=)	gnomAD v4
19	g.852971_852973del	CA1139666166	ELANE	c.163_165del (p.Cys55del)	ClinVar dbSNP
19	g.852971T>A	CA402914676	ELANE	c.163T>A (p.Cys55Ser)
19	g.852971T>C	CA402914674	ELANE	c.163T>C (p.Cys55Arg)	ClinVar gnomAD v4
19	g.852971T>G	CA402914673	ELANE	c.163T>G (p.Cys55Gly)
19	g.852972G>A	CA402914677	ELANE	c.164G>A (p.Cys55Tyr)	ClinVar
19	g.852972G>C	CA402914679	ELANE	c.164G>C (p.Cys55Ser)	ClinVar dbSNP
19	g.852972G=	CA2317360133	ELANE	c.164G= (p.Cys55=)
19	g.852972G>T	CA402914680	ELANE	c.164G>T (p.Cys55Phe)	gnomAD v4
19	g.852973C>A	CA402914682	ELANE	c.165C>A (p.Cys55Ter)	ClinVar gnomAD v4 COSMIC
19	g.852973C=	CA2317360134	ELANE	c.165C= (p.Cys55=)
19	g.852973C>G	CA402914684	ELANE	c.165C>G (p.Cys55Trp)	gnomAD v4
19	g.852973C>T	CA9025942	ELANE	c.165C>T (p.Cys55=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.852974G>A	CA402914689	ELANE	c.166G>A (p.Gly56Ser)	gnomAD v4
19	g.852974G>C	CA402914691	ELANE	c.166G>C (p.Gly56Arg)
19	g.852974G>T	CA402914693	ELANE	c.166G>T (p.Gly56Cys)	gnomAD v4
19	g.852975G>A	CA402914695	ELANE	c.167G>A (p.Gly56Asp)
19	g.852975G>C	CA402914698	ELANE	c.167G>C (p.Gly56Ala)
19	g.852975G>T	CA402914701	ELANE	c.167G>T (p.Gly56Val)	gnomAD v4
19	g.852976C>A	CA504684744	ELANE	c.168C>A (p.Gly56=)	gnomAD v4
19	g.852976C=	CA2317360135	ELANE	c.168C= (p.Gly56=)
19	g.852976C>G	CA504684745	ELANE	c.168C>G (p.Gly56=)	gnomAD v4
19	g.852976C>T	CA9025943	ELANE	c.168C>T (p.Gly56=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.852976_852977insCTGATT	CA2695227777	ELANE	c.168_169insCTGATT (p.Gly56_Ala57insLeuIle)
19	g.852977G>A	CA402914708	ELANE	c.169G>A (p.Ala57Thr)	ClinVar dbSNP gnomAD v4
19	g.852977G>C	CA402914709	ELANE	c.169G>C (p.Ala57Pro)
19	g.852977G>T	CA402914705	ELANE	c.169G>T (p.Ala57Ser)	gnomAD v4
19	g.852978C>A	CA402914711	ELANE	c.170C>A (p.Ala57Asp)	gnomAD v4
19	g.852978C=	CA2317360136	ELANE	c.170C= (p.Ala57=)
19	g.852978C>G	CA402914714	ELANE	c.170C>G (p.Ala57Gly)
19	g.852978C>T	CA16603237	ELANE	c.170C>T (p.Ala57Val)	ClinVar dbSNP
19	g.852979C>A	CA504684746	ELANE	c.171C>A (p.Ala57=)	gnomAD v4
19	g.852979C=	CA2317360137	ELANE	c.171C= (p.Ala57=)
19	g.852979C>G	CA504684747	ELANE	c.171C>G (p.Ala57=)
19	g.852979C>T	CA9025944	ELANE	c.171C>T (p.Ala57=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.852980A=	CA2317360138	ELANE	c.172A= (p.Thr58=)
19	g.852980A>C	CA402914718	ELANE	c.172A>C (p.Thr58Pro)	ClinVar dbSNP
19	g.852980A>G	CA402914720	ELANE	c.172A>G (p.Thr58Ala)	gnomAD v4
19	g.852980A>T	CA402914722	ELANE	c.172A>T (p.Thr58Ser)	ClinVar

Number of alleles fetched