Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.855930A>G	CA2561095019	ELANE	c.598-28A>G (n.598-28A>G)	gnomAD v4
19	g.855931G>A	CA2587805392	ELANE	c.598-27G>A (n.598-27G>A)	gnomAD v4
19	g.855931G>C	CA2576540525	ELANE	c.598-27G>C (n.598-27G>C)
19	g.855932_855933delinsCT	CA2317361581	ELANE	c.598-26_598-25delinsCT (n.598-26_598-25delinsCT)
19	g.855933T>G	CA2587805393	ELANE	c.598-25T>G (n.598-25T>G)	gnomAD v4
19	g.855934del	CA2317361582	ELANE	c.598-24del (n.598-24del)	dbSNP
19	g.855934_855935delinsTC	CA2317361583	ELANE	c.598-24_598-23delinsTC (n.598-24_598-23delinsTC)
19	g.855935C>A	CA2576540526	ELANE	c.598-23C>A (n.598-23C>A)
19	g.855935C=	CA2317361584	ELANE	c.598-23C= (n.598-23C=)
19	g.855935C>G	CA2587805394	ELANE	c.598-23C>G (n.598-23C>G)	gnomAD v4
19	g.855935C>T	CA9026116	ELANE	c.598-23C>T (n.598-23C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855938del	CA884315621	ELANE	c.598-20del (n.598-20del)	dbSNP
19	g.855936C>A	CA9026117	ELANE	c.598-22C>A (n.598-22C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855936C=	CA2317361585	ELANE	c.598-22C= (n.598-22C=)
19	g.855937C>A	CA2576540527	ELANE	c.598-21C>A (n.598-21C>A)
19	g.855937C>G	CA2587805395	ELANE	c.598-21C>G (n.598-21C>G)	gnomAD v4
19	g.855937C>T	CA2587805396	ELANE	c.598-21C>T (n.598-21C>T)	gnomAD v4
19	g.855939A=	CA2317361586	ELANE	c.598-19A= (n.598-19A=)
19	g.855939A>G	CA303945207	ELANE	c.598-19A>G (n.598-19A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855939_855940delinsAC	CA2317361587	ELANE	c.598-19_598-18delinsAC (n.598-19_598-18delinsAC)
19	g.855940C>A	CA2587805397	ELANE	c.598-18C>A (n.598-18C>A)	gnomAD v4
19	g.855941del	CA2317361588	ELANE	c.598-17del (n.598-17del)	ClinVar dbSNP gnomAD v4
19	g.855941C>A	CA2587805398	ELANE	c.598-17C>A (n.598-17C>A)	gnomAD v4
19	g.855941C>T	CA2576540528	ELANE	c.598-17C>T (n.598-17C>T)	gnomAD v4
19	g.855943T>G	CA631295814	ELANE	c.598-15T>G (n.598-15T>G)	dbSNP gnomAD v2 gnomAD v4
19	g.855943T=	CA2317361589	ELANE	c.598-15T= (n.598-15T=)
19	g.855944G>C	CA2587805399	ELANE	c.598-14G>C (n.598-14G>C)	gnomAD v4
19	g.855944G>T	CA2587805400	ELANE	c.598-14G>T (n.598-14G>T)	gnomAD v4
19	g.855945T>C	CA631295815	ELANE	c.598-13T>C (n.598-13T>C)	dbSNP gnomAD v2 gnomAD v4
19	g.855945T=	CA2317361590	ELANE	c.598-13T= (n.598-13T=)
19	g.855948G>A	CA303945209	ELANE	c.598-10G>A (n.598-10G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855948G=	CA2317361591	ELANE	c.598-10G= (n.598-10G=)
19	g.855948G>T	CA2587805401	ELANE	c.598-10G>T (n.598-10G>T)	gnomAD v4
19	g.855950dup	CA2587805402	ELANE	c.598-8dup (n.598-8dup)	gnomAD v4
19	g.855950C=	CA2317361592	ELANE	c.598-8C= (n.598-8C=)
19	g.855950C>T	CA9026118	ELANE	c.598-8C>T (n.598-8C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855952C>T	CA2576540529	ELANE	c.598-6C>T (n.598-6C>T)
19	g.855953C=	CA2317361593	ELANE	c.598-5C= (n.598-5C=)
19	g.855953C>T	CA631295816	ELANE	c.598-5C>T (n.598-5C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855954A=	CA2317361594	ELANE	c.598-4A= (n.598-4A=)
19	g.855954A>G	CA915951613	ELANE	c.598-4A>G (n.598-4A>G)	ClinVar dbSNP
19	g.855955C=	CA2317361595	ELANE	c.598-3C= (n.598-3C=)
19	g.855955C>G	CA346328	ELANE	c.598-3C>G (n.598-3C>G)	ClinVar dbSNP
19	g.855956A=	CA2317361596	ELANE	c.598-2A= (n.598-2A=)
19	g.855956A>C	CA16040333	ELANE	c.598-2A>C (n.598-2A>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855956A>G	CA402918839	ELANE	c.598-2A>G (n.598-2A>G)	gnomAD v4
19	g.855956A>T	CA402918841	ELANE	c.598-2A>T (n.598-2A>T)
19	g.855956_855957del	CA2695227810	ELANE	c.598-2_598-1del (n.598-2_598-1del)
19	g.855957G>A	CA10577118	ELANE	c.598-1G>A (n.598-1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.855957G>C	CA402918844	ELANE	c.598-1G>C (n.598-1G>C)
19	g.855957G=	CA2317361597	ELANE	c.598-1G= (n.598-1G=)
19	g.855957G>T	CA402918845	ELANE	c.598-1G>T (n.598-1G>T)
19	g.855960_855961dup	CA16043100	ELANE	c.600_601dup	ClinVar dbSNP
19	g.855961del	CA2695227811	ELANE	c.601del
19	g.855958G>A	CA402918847	ELANE	c.598G>A (p.Gly200Arg)
19	g.855958G>C	CA402918848	ELANE	c.598G>C (p.Gly200Arg)
19	g.855958G=	CA2317361598	ELANE	c.598G= (p.Gly200=)
19	g.855958G>T	CA9026119	ELANE	c.598G>T (p.Gly200Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855959G>A	CA402918850	ELANE	c.599G>A (p.Gly200Glu)	gnomAD v4
19	g.855959G>C	CA402918853	ELANE	c.599G>C (p.Gly200Ala)
19	g.855959G>T	CA402918851	ELANE	c.599G>T (p.Gly200Val)
19	g.855961_855968dup	CA2695227812	ELANE	c.601_608dup (p.Ser204ThrfsTer11)
19	g.855960G>A	CA9026120	ELANE	c.600G>A (p.Gly200=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855960G>C	CA504686289	ELANE	c.600G>C (p.Gly200=)
19	g.855960G=	CA2317361599	ELANE	c.600G= (p.Gly200=)
19	g.855960G>T	CA504686291	ELANE	c.600G>T (p.Gly200=)
19	g.855960_855961delinsAA	CA645613904	ELANE	c.600_601delinsAA (p.Asp201Asn)	COSMIC
19	g.855962_855968del	CA2695227813	ELANE	c.602_608del (p.Asp201AlafsTer9)
19	g.855961G>A	CA402918855	ELANE	c.601G>A (p.Asp201Asn)	gnomAD v4
19	g.855961G>C	CA402918857	ELANE	c.601G>C (p.Asp201His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855961G=	CA2317361600	ELANE	c.601G= (p.Asp201=)
19	g.855961G>T	CA402918858	ELANE	c.601G>T (p.Asp201Tyr)	dbSNP gnomAD v4
19	g.855961_855962delinsGA	CA2317361601	ELANE	c.601_602delinsGA (p.Asp201=)
19	g.855962del	CA1139770400	ELANE	c.602del (p.Asp201AlafsTer11)	ClinVar dbSNP
19	g.855962A>C	CA402918859	ELANE	c.602A>C (p.Asp201Ala)	gnomAD v4
19	g.855962A>G	CA402918861	ELANE	c.602A>G (p.Asp201Gly)
19	g.855962A>T	CA402918862	ELANE	c.602A>T (p.Asp201Val)	gnomAD v4
19	g.855963C>A	CA402918864	ELANE	c.603C>A (p.Asp201Glu)
19	g.855963C>G	CA402918865	ELANE	c.603C>G (p.Asp201Glu)
19	g.855963C>T	CA504686306	ELANE	c.603C>T (p.Asp201=)
19	g.855964T>A	CA402918869	ELANE	c.604T>A (p.Ser202Thr)
19	g.855964T>C	CA402918871	ELANE	c.604T>C (p.Ser202Pro)
19	g.855964T>G	CA402918867	ELANE	c.604T>G (p.Ser202Ala)
19	g.855965C>A	CA402918872	ELANE	c.605C>A (p.Ser202Tyr)
19	g.855965C=	CA2317361602	ELANE	c.605C= (p.Ser202=)
19	g.855965C>G	CA402918873	ELANE	c.605C>G (p.Ser202Cys)
19	g.855965C>T	CA10583965	ELANE	c.605C>T (p.Ser202Phe)	ClinVar dbSNP gnomAD v4
19	g.855966C>A	CA290722	ELANE	c.606C>A (p.Ser202=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855966C=	CA2317361603	ELANE	c.606C= (p.Ser202=)
19	g.855966C>G	CA504686320	ELANE	c.606C>G (p.Ser202=)	dbSNP gnomAD v2 gnomAD v4
19	g.855966C>T	CA290725	ELANE	c.606C>T (p.Ser202=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855967G>A	CA303945234	ELANE	c.607G>A (p.Gly203Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855967G>C	CA402918877	ELANE	c.607G>C (p.Gly203Arg)	ClinVar dbSNP
19	g.855967G=	CA2317361604	ELANE	c.607G= (p.Gly203=)
19	g.855967G>T	CA402918878	ELANE	c.607G>T (p.Gly203Cys)	ClinVar dbSNP
19	g.855968G>A	CA402918879	ELANE	c.608G>A (p.Gly203Asp)
19	g.855968G>C	CA402918881	ELANE	c.608G>C (p.Gly203Ala)
19	g.855968G>T	CA402918883	ELANE	c.608G>T (p.Gly203Val)
19	g.855969C>A	CA504686342	ELANE	c.609C>A (p.Gly203=)
19	g.855969C>G	CA504686340	ELANE	c.609C>G (p.Gly203=)
19	g.855969C>T	CA504686337	ELANE	c.609C>T (p.Gly203=)
19	g.855970A>C	CA402918885	ELANE	c.610A>C (p.Ser204Arg)
19	g.855970A>G	CA402918887	ELANE	c.610A>G (p.Ser204Gly)	gnomAD v4
19	g.855970A>T	CA402918884	ELANE	c.610A>T (p.Ser204Cys)
19	g.855971G>A	CA402918889	ELANE	c.611G>A (p.Ser204Asn)	COSMIC
19	g.855971G>C	CA402918890	ELANE	c.611G>C (p.Ser204Thr)
19	g.855971G>T	CA402918892	ELANE	c.611G>T (p.Ser204Ile)
19	g.855972C>A	CA402918894	ELANE	c.612C>A (p.Ser204Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.855972C=	CA2317361605	ELANE	c.612C= (p.Ser204=)
19	g.855972C>G	CA402918896	ELANE	c.612C>G (p.Ser204Arg)
19	g.855972C>T	CA9026121	ELANE	c.612C>T (p.Ser204=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.855975del	CA2695227814	ELANE	c.615del (p.Leu206TrpfsTer6)
19	g.855973C>A	CA402918897	ELANE	c.613C>A (p.Pro205Thr)
19	g.855973C=	CA2317361606	ELANE	c.613C= (p.Pro205=)
19	g.855973C>G	CA402918901	ELANE	c.613C>G (p.Pro205Ala)	dbSNP gnomAD v2 gnomAD v4
19	g.855973C>T	CA402918898	ELANE	c.613C>T (p.Pro205Ser)
19	g.855974C>A	CA402918903	ELANE	c.614C>A (p.Pro205His)
19	g.855974C=	CA2317361607	ELANE	c.614C= (p.Pro205=)
19	g.855974C>G	CA402918904	ELANE	c.614C>G (p.Pro205Arg)	ClinVar dbSNP
19	g.855974C>T	CA402918906	ELANE	c.614C>T (p.Pro205Leu)
19	g.855975C>A	CA504686369	ELANE	c.615C>A (p.Pro205=)
19	g.855975C>G	CA504686371	ELANE	c.615C>G (p.Pro205=)
19	g.855975C>T	CA504686372	ELANE	c.615C>T (p.Pro205=)	gnomAD v4
19	g.855975_855978del	CA2695227815	ELANE	c.615_618del (p.Leu206SerfsTer5)
19	g.855976T>A	CA402918908	ELANE	c.616T>A (p.Leu206Met)
19	g.855976T>C	CA504686378	ELANE	c.616T>C (p.Leu206=)	gnomAD v4
19	g.855976T>G	CA402918910	ELANE	c.616T>G (p.Leu206Val)
19	g.855977T>A	CA402918914	ELANE	c.617T>A (p.Leu206Ter)
19	g.855977T>C	CA402918915	ELANE	c.617T>C (p.Leu206Ser)
19	g.855977T>G	CA402918912	ELANE	c.617T>G (p.Leu206Trp)
19	g.855978G>A	CA504686387	ELANE	c.618G>A (p.Leu206=)	ClinVar
19	g.855978G>C	CA402918918	ELANE	c.618G>C (p.Leu206Phe)	ClinVar dbSNP
19	g.855978G=	CA2317361608	ELANE	c.618G= (p.Leu206=)
19	g.855978G>T	CA281046	ELANE	c.618G>T (p.Leu206Phe)	ClinVar dbSNP
19	g.855979G>A	CA402918920	ELANE	c.619G>A (p.Val207Ile)	gnomAD v4 COSMIC
19	g.855979G>C	CA402918921	ELANE	c.619G>C (p.Val207Leu)	ClinVar dbSNP gnomAD v4
19	g.855979G=	CA2317361609	ELANE	c.619G= (p.Val207=)
19	g.855979G>T	CA402918924	ELANE	c.619G>T (p.Val207Phe)	ClinVar dbSNP
19	g.855980T>A	CA402918926	ELANE	c.620T>A (p.Val207Asp)
19	g.855980T>C	CA402918927	ELANE	c.620T>C (p.Val207Ala)	dbSNP
19	g.855980T>G	CA402918929	ELANE	c.620T>G (p.Val207Gly)
19	g.855981C>A	CA504686406	ELANE	c.621C>A (p.Val207=)
19	g.855981C=	CA2317361610	ELANE	c.621C= (p.Val207=)
19	g.855981C>G	CA504686408	ELANE	c.621C>G (p.Val207=)	dbSNP gnomAD v3 gnomAD v4
19	g.855981C>T	CA504686410	ELANE	c.621C>T (p.Val207=)	gnomAD v4
19	g.855982T>A	CA402918931	ELANE	c.622T>A (p.Cys208Ser)
19	g.855982T>C	CA402918932	ELANE	c.622T>C (p.Cys208Arg)
19	g.855982T>G	CA402918933	ELANE	c.622T>G (p.Cys208Gly)	ClinVar dbSNP
19	g.855983G>A	CA402918935	ELANE	c.623G>A (p.Cys208Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.855983G>C	CA402918937	ELANE	c.623G>C (p.Cys208Ser)
19	g.855983G=	CA2317361611	ELANE	c.623G= (p.Cys208=)
19	g.855983G>T	CA402918939	ELANE	c.623G>T (p.Cys208Phe)	ClinVar dbSNP
19	g.855984C>A	CA402918940	ELANE	c.624C>A (p.Cys208Ter)
19	g.855984C=	CA2317361612	ELANE	c.624C= (p.Cys208=)
19	g.855984C>G	CA402918941	ELANE	c.624C>G (p.Cys208Trp)
19	g.855984C>T	CA504686421	ELANE	c.624C>T (p.Cys208=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.855985A>C	CA402918942	ELANE	c.625A>C (p.Asn209His)
19	g.855985A>G	CA402918943	ELANE	c.625A>G (p.Asn209Asp)
19	g.855985A>T	CA402918945	ELANE	c.625A>T (p.Asn209Tyr)
19	g.855986A>C	CA402918947	ELANE	c.626A>C (p.Asn209Thr)
19	g.855986A>G	CA402918948	ELANE	c.626A>G (p.Asn209Ser)
19	g.855986A>T	CA402918949	ELANE	c.626A>T (p.Asn209Ile)	COSMIC
19	g.855987C>A	CA402918950	ELANE	c.627C>A (p.Asn209Lys)	dbSNP
19	g.855987C=	CA2317361613	ELANE	c.627C= (p.Asn209=)
19	g.855987C>G	CA303945245	ELANE	c.627C>G (p.Asn209Lys)	dbSNP
19	g.855987C>T	CA9026122	ELANE	c.627C>T (p.Asn209=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855988G>A	CA9026123	ELANE	c.628G>A (p.Gly210Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855988G>C	CA402918954	ELANE	c.628G>C (p.Gly210Arg)	gnomAD v4
19	g.855988G=	CA2317361614	ELANE	c.628G= (p.Gly210=)
19	g.855988G>T	CA402918955	ELANE	c.628G>T (p.Gly210Trp)
19	g.855989G>A	CA402918958	ELANE	c.629G>A (p.Gly210Glu)	COSMIC
19	g.855989G>C	CA402918960	ELANE	c.629G>C (p.Gly210Ala)
19	g.855989G>T	CA402918957	ELANE	c.629G>T (p.Gly210Val)
19	g.855990G>A	CA504686444	ELANE	c.630G>A (p.Gly210=)	ClinVar dbSNP
19	g.855990G>C	CA504686445	ELANE	c.630G>C (p.Gly210=)
19	g.855990G=	CA2317361615	ELANE	c.630G= (p.Gly210=)
19	g.855990G>T	CA504686446	ELANE	c.630G>T (p.Gly210=)
19	g.855991C>A	CA402918961	ELANE	c.631C>A (p.Leu211Ile)
19	g.855991C=	CA2317361616	ELANE	c.631C= (p.Leu211=)
19	g.855991C>G	CA402918962	ELANE	c.631C>G (p.Leu211Val)
19	g.855991C>T	CA504686452	ELANE	c.631C>T (p.Leu211=)	dbSNP
19	g.855992T>A	CA402918964	ELANE	c.632T>A (p.Leu211Gln)	gnomAD v4
19	g.855992T>C	CA402918966	ELANE	c.632T>C (p.Leu211Pro)
19	g.855992T>G	CA402918967	ELANE	c.632T>G (p.Leu211Arg)
19	g.855993A>C	CA504686460	ELANE	c.633A>C (p.Leu211=)
19	g.855993A>G	CA504686464	ELANE	c.633A>G (p.Leu211=)
19	g.855993A>T	CA504686461	ELANE	c.633A>T (p.Leu211=)
19	g.855994A=	CA2317361617	ELANE	c.634A= (p.Ile212=)
19	g.855994A>C	CA402918970	ELANE	c.634A>C (p.Ile212Leu)
19	g.855994A>G	CA402918971	ELANE	c.634A>G (p.Ile212Val)	ClinVar dbSNP
19	g.855994A>T	CA402918973	ELANE	c.634A>T (p.Ile212Phe)
19	g.855995T>A	CA402918975	ELANE	c.635T>A (p.Ile212Asn)
19	g.855995T>C	CA402918977	ELANE	c.635T>C (p.Ile212Thr)
19	g.855995T>G	CA402918978	ELANE	c.635T>G (p.Ile212Ser)
19	g.855996C>A	CA504686478	ELANE	c.636C>A (p.Ile212=)	ClinVar
19	g.855996C=	CA2317361618	ELANE	c.636C= (p.Ile212=)
19	g.855996C>G	CA402918980	ELANE	c.636C>G (p.Ile212Met)	dbSNP gnomAD v3 gnomAD v4
19	g.855996C>T	CA504686480	ELANE	c.636C>T (p.Ile212=)	gnomAD v4
19	g.855997C>A	CA402918983	ELANE	c.637C>A (p.His213Asn)
19	g.855997C=	CA2317361619	ELANE	c.637C= (p.His213=)
19	g.855997C>G	CA402918984	ELANE	c.637C>G (p.His213Asp)
19	g.855997C>T	CA9026124	ELANE	c.637C>T (p.His213Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855998A>C	CA402918986	ELANE	c.638A>C (p.His213Pro)
19	g.855998A>G	CA402918988	ELANE	c.638A>G (p.His213Arg)	gnomAD v4
19	g.855998A>T	CA402918990	ELANE	c.638A>T (p.His213Leu)
19	g.855999del	CA2740091835	ELANE	c.639del (p.His213GlnfsTer27)	ClinVar
19	g.855999C>A	CA9026125	ELANE	c.639C>A (p.His213Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.855999C=	CA2317361620	ELANE	c.639C= (p.His213=)
19	g.855999C>G	CA402918993	ELANE	c.639C>G (p.His213Gln)
19	g.855999C>T	CA9026126	ELANE	c.639C>T (p.His213=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856000G>A	CA281059	ELANE	c.640G>A (p.Gly214Arg)	ClinVar dbSNP COSMIC
19	g.856000G>C	CA402918995	ELANE	c.640G>C (p.Gly214Arg)	ClinVar
19	g.856000G=	CA2317361621	ELANE	c.640G= (p.Gly214=)
19	g.856000G>T	CA402918996	ELANE	c.640G>T (p.Gly214Ter)	dbSNP
19	g.856001del	CA2695227816	ELANE	c.641del (p.Gly214GlufsTer26)
19	g.856001G>A	CA402918999	ELANE	c.641G>A (p.Gly214Glu)	ClinVar dbSNP
19	g.856001G>C	CA402919001	ELANE	c.641G>C (p.Gly214Ala)
19	g.856001G=	CA2317361622	ELANE	c.641G= (p.Gly214=)
19	g.856001G>T	CA402919002	ELANE	c.641G>T (p.Gly214Val)	ClinVar dbSNP
19	g.856002A>C	CA504686499	ELANE	c.642A>C (p.Gly214=)
19	g.856002A>G	CA504686501	ELANE	c.642A>G (p.Gly214=)
19	g.856002A>T	CA504686497	ELANE	c.642A>T (p.Gly214=)
19	g.856003A=	CA2317361623	ELANE	c.643A= (p.Ile215=)
19	g.856003A>C	CA402919003	ELANE	c.643A>C (p.Ile215Leu)
19	g.856003A>G	CA402919005	ELANE	c.643A>G (p.Ile215Val)	dbSNP
19	g.856003A>T	CA402919007	ELANE	c.643A>T (p.Ile215Phe)
19	g.856004T>A	CA402919009	ELANE	c.644T>A (p.Ile215Asn)	ClinVar dbSNP
19	g.856004T>C	CA402919011	ELANE	c.644T>C (p.Ile215Thr)	ClinVar gnomAD v4
19	g.856004T>G	CA9026127	ELANE	c.644T>G (p.Ile215Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856004T=	CA2317361624	ELANE	c.644T= (p.Ile215=)
19	g.856005T>A	CA504686515	ELANE	c.645T>A (p.Ile215=)
19	g.856005T>C	CA504686518	ELANE	c.645T>C (p.Ile215=)	gnomAD v4
19	g.856005T>G	CA402919013	ELANE	c.645T>G (p.Ile215Met)
19	g.856006G>A	CA9026128	ELANE	c.646G>A (p.Ala216Thr)	dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
19	g.856006G>C	CA402919020	ELANE	c.646G>C (p.Ala216Pro)
19	g.856006G=	CA2317361625	ELANE	c.646G= (p.Ala216=)
19	g.856006G>T	CA402919016	ELANE	c.646G>T (p.Ala216Ser)
19	g.856007C>A	CA9026129	ELANE	c.647C>A (p.Ala216Asp)	dbSNP ExAC gnomAD v2
19	g.856007C=	CA2317361626	ELANE	c.647C= (p.Ala216=)
19	g.856007C>G	CA402919023	ELANE	c.647C>G (p.Ala216Gly)
19	g.856007C>T	CA402919025	ELANE	c.647C>T (p.Ala216Val)	ClinVar dbSNP
19	g.856008C>A	CA504686531	ELANE	c.648C>A (p.Ala216=)
19	g.856008C=	CA2317361627	ELANE	c.648C= (p.Ala216=)
19	g.856008C>G	CA504686533	ELANE	c.648C>G (p.Ala216=)	dbSNP
19	g.856008C>T	CA9026130	ELANE	c.648C>T (p.Ala216=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856009del	CA2695227817	ELANE	c.649del (p.Ser217ProfsTer23)
19	g.856009T>A	CA402919028	ELANE	c.649T>A (p.Ser217Thr)
19	g.856009T>C	CA402919030	ELANE	c.649T>C (p.Ser217Pro)
19	g.856009T>G	CA402919032	ELANE	c.649T>G (p.Ser217Ala)
19	g.856010C>A	CA402919038	ELANE	c.650C>A (p.Ser217Tyr)
19	g.856010C>G	CA402919034	ELANE	c.650C>G (p.Ser217Cys)
19	g.856010C>T	CA402919036	ELANE	c.650C>T (p.Ser217Phe)
19	g.856011C>A	CA504686555	ELANE	c.651C>A (p.Ser217=)
19	g.856011C>G	CA504686556	ELANE	c.651C>G (p.Ser217=)
19	g.856011C>T	CA504686560	ELANE	c.651C>T (p.Ser217=)	gnomAD v4
19	g.856012T>A	CA402919039	ELANE	c.652T>A (p.Phe218Ile)
19	g.856012T>C	CA303945275	ELANE	c.652T>C (p.Phe218Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.856012T>G	CA402919041	ELANE	c.652T>G (p.Phe218Val)
19	g.856012T=	CA2317361628	ELANE	c.652T= (p.Phe218=)
19	g.856013T>A	CA402919043	ELANE	c.653T>A (p.Phe218Tyr)
19	g.856013T>C	CA402919044	ELANE	c.653T>C (p.Phe218Ser)
19	g.856013T>G	CA402919046	ELANE	c.653T>G (p.Phe218Cys)
19	g.856014C>A	CA402919047	ELANE	c.654C>A (p.Phe218Leu)
19	g.856014C=	CA2317361629	ELANE	c.654C= (p.Phe218=)
19	g.856014C>G	CA402919050	ELANE	c.654C>G (p.Phe218Leu)	dbSNP gnomAD v2 gnomAD v4
19	g.856014C>T	CA9026131	ELANE	c.654C>T (p.Phe218=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856015G>A	CA290726	ELANE	c.655G>A (p.Val219Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856015G>C	CA9026133	ELANE	c.655G>C (p.Val219Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856015G=	CA2317361630	ELANE	c.655G= (p.Val219=)
19	g.856015G>T	CA9026132	ELANE	c.655G>T (p.Val219Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856016del	CA2695227818	ELANE	c.656del (p.Val219AlafsTer21)
19	g.856016T>A	CA402919053	ELANE	c.656T>A (p.Val219Asp)
19	g.856016T>C	CA9026134	ELANE	c.656T>C (p.Val219Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856016T>G	CA402919056	ELANE	c.656T>G (p.Val219Gly)
19	g.856016T=	CA2317361631	ELANE	c.656T= (p.Val219=)
19	g.856017C>A	CA504686584	ELANE	c.657C>A (p.Val219=)
19	g.856017C>G	CA504686587	ELANE	c.657C>G (p.Val219=)
19	g.856017C>T	CA504686589	ELANE	c.657C>T (p.Val219=)	gnomAD v4
19	g.856018del	CA2695227819	ELANE	c.658del (p.Arg220GlyfsTer20)
19	g.856018C>A	CA504686592	ELANE	c.658C>A (p.Arg220=)	gnomAD v4
19	g.856018C=	CA2317361632	ELANE	c.658C= (p.Arg220=)
19	g.856018C>G	CA402919058	ELANE	c.658C>G (p.Arg220Gly)
19	g.856018C>T	CA9026135	ELANE	c.658C>T (p.Arg220Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856019G>A	CA281044	ELANE	c.659G>A (p.Arg220Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.856019G>C	CA303945312	ELANE	c.659G>C (p.Arg220Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.856019G=	CA2317361633	ELANE	c.659G= (p.Arg220=)
19	g.856019G>T	CA402919061	ELANE	c.659G>T (p.Arg220Leu)
19	g.856022dup	CA2587805403	ELANE	c.662dup (p.Gly222ArgfsTer?)	gnomAD v4
19	g.856022del	CA2695227820	ELANE	c.662del (p.Gly221GlufsTer19)
19	g.856020G>A	CA504686609	ELANE	c.660G>A (p.Arg220=)	dbSNP
19	g.856020G>C	CA9026136	ELANE	c.660G>C (p.Arg220=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.856020G=	CA2317361634	ELANE	c.660G= (p.Arg220=)
19	g.856020G>T	CA504686612	ELANE	c.660G>T (p.Arg220=)
19	g.856021G>A	CA402919064	ELANE	c.661G>A (p.Gly221Arg)
19	g.856021G>C	CA402919068	ELANE	c.661G>C (p.Gly221Arg)
19	g.856021G=	CA2317361635	ELANE	c.661G= (p.Gly221=)
19	g.856021G>T	CA402919066	ELANE	c.661G>T (p.Gly221Ter)	ClinVar dbSNP
19	g.856022G>A	CA402919070	ELANE	c.662G>A (p.Gly221Glu)
19	g.856022G>C	CA402919071	ELANE	c.662G>C (p.Gly221Ala)
19	g.856022G=	CA2317361636	ELANE	c.662G= (p.Gly221=)
19	g.856022G>T	CA9026137	ELANE	c.662G>T (p.Gly221Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.856023A>C	CA504686631	ELANE	c.663A>C (p.Gly221=)
19	g.856023A>G	CA504686635	ELANE	c.663A>G (p.Gly221=)
19	g.856023A>T	CA504686627	ELANE	c.663A>T (p.Gly221=)
19	g.856024G>A	CA402919073	ELANE	c.664G>A (p.Gly222Ser)	ClinVar dbSNP
19	g.856024G>C	CA402919075	ELANE	c.664G>C (p.Gly222Arg)
19	g.856024G>T	CA402919076	ELANE	c.664G>T (p.Gly222Cys)	ClinVar dbSNP
19	g.856025G>A	CA402919078	ELANE	c.665G>A (p.Gly222Asp)	ClinVar dbSNP gnomAD v4
19	g.856025G>C	CA402919079	ELANE	c.665G>C (p.Gly222Ala)
19	g.856025G=	CA2317361637	ELANE	c.665G= (p.Gly222=)
19	g.856025G>T	CA402919081	ELANE	c.665G>T (p.Gly222Val)	dbSNP gnomAD v3 gnomAD v4
19	g.856026C>A	CA504686646	ELANE	c.666C>A (p.Gly222=)
19	g.856026C>G	CA504686648	ELANE	c.666C>G (p.Gly222=)
19	g.856026C>T	CA504686650	ELANE	c.666C>T (p.Gly222=)
19	g.856027del	CA2695227821	ELANE	c.667del (p.Cys223AlafsTer17)
19	g.856027T>A	CA402919083	ELANE	c.667T>A (p.Cys223Ser)	gnomAD v4
19	g.856027T>C	CA402919084	ELANE	c.667T>C (p.Cys223Arg)
19	g.856027T>G	CA402919086	ELANE	c.667T>G (p.Cys223Gly)
19	g.856028G>A	CA402919091	ELANE	c.668G>A (p.Cys223Tyr)	dbSNP
19	g.856028G>C	CA402919090	ELANE	c.668G>C (p.Cys223Ser)
19	g.856028G=	CA2317361638	ELANE	c.668G= (p.Cys223=)
19	g.856028G>T	CA402919088	ELANE	c.668G>T (p.Cys223Phe)
19	g.856030_856031del	CA915940693	ELANE	c.670_671del (p.Ala224LeufsTer?)
19	g.856029C>A	CA402919092	ELANE	c.669C>A (p.Cys223Ter)	ClinVar dbSNP
19	g.856029C=	CA2317361639	ELANE	c.669C= (p.Cys223=)
19	g.856029C>G	CA402919094	ELANE	c.669C>G (p.Cys223Trp)
19	g.856029C>T	CA504686671	ELANE	c.669C>T (p.Cys223=)	dbSNP gnomAD v3 gnomAD v4
19	g.856029_856030delinsA	CA2695227822	ELANE	c.669_670delinsA (p.Cys223Ter)
19	g.856030G>A	CA402919096	ELANE	c.670G>A (p.Ala224Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.856030G>C	CA402919097	ELANE	c.670G>C (p.Ala224Pro)
19	g.856030G=	CA2317361640	ELANE	c.670G= (p.Ala224=)
19	g.856030G>T	CA402919098	ELANE	c.670G>T (p.Ala224Ser)

Number of alleles fetched