Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80107830T>A	CA401363922	GAA	c.889T>A (p.Phe297Ile)
17	g.80107830T>C	CA401363924	GAA	c.889T>C (p.Phe297Leu)
17	g.80107830T>G	CA401363926	GAA	c.889T>G (p.Phe297Val)
17	g.80107830_80107831insG	CA2697555239	GAA	c.889_890insG (p.Phe297CysfsTer?)	ClinVar
17	g.80107831T>A	CA401363928	GAA	c.890T>A (p.Phe297Tyr)
17	g.80107831T>C	CA401363929	GAA	c.890T>C (p.Phe297Ser)	dbSNP
17	g.80107831T>G	CA401363931	GAA	c.890T>G (p.Phe297Cys)
17	g.80107831T=	CA2277812409	GAA	c.890T= (p.Phe297=)
17	g.80107832C>A	CA401363933	GAA	c.891C>A (p.Phe297Leu)
17	g.80107832C>G	CA401363935	GAA	c.891C>G (p.Phe297Leu)
17	g.80107832C>T	CA502402746	GAA	c.891C>T (p.Phe297=)
17	g.80107833T>A	CA401363937	GAA	c.892T>A (p.Tyr298Asn)
17	g.80107833T>C	CA401363939	GAA	c.892T>C (p.Tyr298His)
17	g.80107833T>G	CA401363940	GAA	c.892T>G (p.Tyr298Asp)
17	g.80107834A>C	CA401363941	GAA	c.893A>C (p.Tyr298Ser)
17	g.80107834A>G	CA401363943	GAA	c.893A>G (p.Tyr298Cys)
17	g.80107834A>T	CA401363945	GAA	c.893A>T (p.Tyr298Phe)
17	g.80107835C>A	CA401363947	GAA	c.894C>A (p.Tyr298Ter)
17	g.80107835C=	CA2277812410	GAA	c.894C= (p.Tyr298=)
17	g.80107835C>G	CA401363948	GAA	c.894C>G (p.Tyr298Ter)
17	g.80107835C>T	CA502402747	GAA	c.894C>T (p.Tyr298=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107836C>A	CA401363951	GAA	c.895C>A (p.Leu299Met)
17	g.80107836C>G	CA401363953	GAA	c.895C>G (p.Leu299Val)
17	g.80107836C>T	CA502402748	GAA	c.895C>T (p.Leu299=)
17	g.80107837T>A	CA401363956	GAA	c.896T>A (p.Leu299Gln)
17	g.80107837T>C	CA273686	GAA	c.896T>C (p.Leu299Pro)	ClinVar dbSNP gnomAD v4
17	g.80107837T>G	CA116601	GAA	c.896T>G (p.Leu299Arg)	ClinVar dbSNP
17	g.80107837T=	CA2277812411	GAA	c.896T= (p.Leu299=)
17	g.80107838G>A	CA502402751	GAA	c.897G>A (p.Leu299=)
17	g.80107838G>C	CA502402750	GAA	c.897G>C (p.Leu299=)	ClinVar
17	g.80107838G>T	CA502402749	GAA	c.897G>T (p.Leu299=)
17	g.80107839G>A	CA401363959	GAA	c.898G>A (p.Ala300Thr)
17	g.80107839G>C	CA401363961	GAA	c.898G>C (p.Ala300Pro)
17	g.80107839G>T	CA401363963	GAA	c.898G>T (p.Ala300Ser)
17	g.80107840C>A	CA401363965	GAA	c.899C>A (p.Ala300Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107840C=	CA2277812412	GAA	c.899C= (p.Ala300=)
17	g.80107840C>G	CA401363967	GAA	c.899C>G (p.Ala300Gly)	gnomAD v4
17	g.80107840C>T	CA294889969	GAA	c.899C>T (p.Ala300Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107841G>A	CA502402752	GAA	c.900G>A (p.Ala300=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107841G>C	CA8815083	GAA	c.900G>C (p.Ala300=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107841G=	CA2277812413	GAA	c.900G= (p.Ala300=)
17	g.80107841G>T	CA8815082	GAA	c.900G>T (p.Ala300=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107842C>A	CA401363972	GAA	c.901C>A (p.Leu301Met)
17	g.80107842C=	CA2277812414	GAA	c.901C= (p.Leu301=)
17	g.80107842C>G	CA401363973	GAA	c.901C>G (p.Leu301Val)	dbSNP
17	g.80107842C>T	CA502402753	GAA	c.901C>T (p.Leu301=)
17	g.80107843T>A	CA401363976	GAA	c.902T>A (p.Leu301Gln)
17	g.80107843T>C	CA401363979	GAA	c.902T>C (p.Leu301Pro)
17	g.80107843T>G	CA401363978	GAA	c.902T>G (p.Leu301Arg)	dbSNP
17	g.80107843T=	CA2277812415	GAA	c.902T= (p.Leu301=)
17	g.80107844G>A	CA502402755	GAA	c.903G>A (p.Leu301=)	dbSNP gnomAD v2 gnomAD v4
17	g.80107844G>C	CA502402757	GAA	c.903G>C (p.Leu301=)
17	g.80107844G=	CA2277812416	GAA	c.903G= (p.Leu301=)
17	g.80107844G>T	CA502402756	GAA	c.903G>T (p.Leu301=)
17	g.80107845G>A	CA401363982	GAA	c.904G>A (p.Glu302Lys)
17	g.80107845G>C	CA401363986	GAA	c.904G>C (p.Glu302Gln)
17	g.80107845G=	CA2277812417	GAA	c.904G= (p.Glu302=)
17	g.80107845G>T	CA401363984	GAA	c.904G>T (p.Glu302Ter)	ClinVar dbSNP
17	g.80107846A>C	CA401363988	GAA	c.905A>C (p.Glu302Ala)
17	g.80107846A>G	CA401363990	GAA	c.905A>G (p.Glu302Gly)
17	g.80107846A>T	CA401363993	GAA	c.905A>T (p.Glu302Val)
17	g.80107847G>A	CA502402758	GAA	c.906G>A (p.Glu302=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107847G>C	CA401363995	GAA	c.906G>C (p.Glu302Asp)
17	g.80107847G=	CA2277812418	GAA	c.906G= (p.Glu302=)
17	g.80107847G>T	CA401363997	GAA	c.906G>T (p.Glu302Asp)
17	g.80107848G>A	CA401363999	GAA	c.907G>A (p.Asp303Asn)	dbSNP gnomAD v4
17	g.80107848G>C	CA401364000	GAA	c.907G>C (p.Asp303His)
17	g.80107848G=	CA2277812419	GAA	c.907G= (p.Asp303=)
17	g.80107848G>T	CA401364002	GAA	c.907G>T (p.Asp303Tyr)
17	g.80107849A>C	CA401364005	GAA	c.908A>C (p.Asp303Ala)
17	g.80107849A>G	CA401364006	GAA	c.908A>G (p.Asp303Gly)
17	g.80107849A>T	CA401364008	GAA	c.908A>T (p.Asp303Val)
17	g.80107850C>A	CA401364012	GAA	c.909C>A (p.Asp303Glu)
17	g.80107850C=	CA2277812420	GAA	c.909C= (p.Asp303=)
17	g.80107850C>G	CA401364010	GAA	c.909C>G (p.Asp303Glu)
17	g.80107850C>T	CA8815084	GAA	c.909C>T (p.Asp303=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107851G>A	CA8815085	GAA	c.910G>A (p.Gly304Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107851G>C	CA401364014	GAA	c.910G>C (p.Gly304Arg)
17	g.80107851G=	CA2277812421	GAA	c.910G= (p.Gly304=)
17	g.80107851G>T	CA401364016	GAA	c.910G>T (p.Gly304Cys)
17	g.80107852G>A	CA401364018	GAA	c.911G>A (p.Gly304Asp)
17	g.80107852G>C	CA401364019	GAA	c.911G>C (p.Gly304Ala)
17	g.80107852G>T	CA401364021	GAA	c.911G>T (p.Gly304Val)
17	g.80107853C>A	CA502402764	GAA	c.912C>A (p.Gly304=)
17	g.80107853C=	CA2277812422	GAA	c.912C= (p.Gly304=)
17	g.80107853C>G	CA502402766	GAA	c.912C>G (p.Gly304=)
17	g.80107853C>T	CA8815086	GAA	c.912C>T (p.Gly304=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107854G>A	CA8815087	GAA	c.913G>A (p.Gly305Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107854G>C	CA401364023	GAA	c.913G>C (p.Gly305Arg)
17	g.80107854G=	CA2277812423	GAA	c.913G= (p.Gly305=)
17	g.80107854G>T	CA401364028	GAA	c.913G>T (p.Gly305Trp)
17	g.80107855G>A	CA401364030	GAA	c.914G>A (p.Gly305Glu)
17	g.80107855G>C	CA401364032	GAA	c.914G>C (p.Gly305Ala)
17	g.80107855G>T	CA401364034	GAA	c.914G>T (p.Gly305Val)
17	g.80107856G>A	CA198779	GAA	c.915G>A (p.Gly305=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107856G>C	CA502402768	GAA	c.915G>C (p.Gly305=)
17	g.80107856G=	CA2277812424	GAA	c.915G= (p.Gly305=)
17	g.80107856G>T	CA502402769	GAA	c.915G>T (p.Gly305=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107857T>A	CA401364040	GAA	c.916T>A (p.Ser306Thr)	gnomAD v4
17	g.80107857T>C	CA401364036	GAA	c.916T>C (p.Ser306Pro)	gnomAD v4
17	g.80107857T>G	CA401364038	GAA	c.916T>G (p.Ser306Ala)	dbSNP
17	g.80107857T=	CA2277812425	GAA	c.916T= (p.Ser306=)
17	g.80107858C>A	CA401364041	GAA	c.917C>A (p.Ser306Ter)	ClinVar dbSNP
17	g.80107858C=	CA2277812426	GAA	c.917C= (p.Ser306=)
17	g.80107858C>G	CA401364043	GAA	c.917C>G (p.Ser306Trp)
17	g.80107858C>T	CA202989	GAA	c.917C>T (p.Ser306Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107859G>A	CA8815088	GAA	c.918G>A (p.Ser306=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107859G>C	CA502402770	GAA	c.918G>C (p.Ser306=)
17	g.80107859G=	CA2277812427	GAA	c.918G= (p.Ser306=)
17	g.80107859G>T	CA502402771	GAA	c.918G>T (p.Ser306=)
17	g.80107860G>A	CA401364047	GAA	c.919G>A (p.Ala307Thr)	gnomAD v4
17	g.80107860G>C	CA401364048	GAA	c.919G>C (p.Ala307Pro)
17	g.80107860G>T	CA401364050	GAA	c.919G>T (p.Ala307Ser)	gnomAD v4
17	g.80107861C>A	CA401364051	GAA	c.920C>A (p.Ala307Glu)
17	g.80107861C>G	CA401364052	GAA	c.920C>G (p.Ala307Gly)	COSMIC
17	g.80107861C>T	CA401364053	GAA	c.920C>T (p.Ala307Val)
17	g.80107864_80107865del	CA2640280280	GAA	c.923_924del (p.His308ArgfsTer21)	gnomAD v4
17	g.80107862A=	CA2277812428	GAA	c.921A= (p.Ala307=)
17	g.80107862A>C	CA502402773	GAA	c.921A>C (p.Ala307=)	ClinVar dbSNP
17	g.80107862A>G	CA502402774	GAA	c.921A>G (p.Ala307=)
17	g.80107862A>T	CA145795	GAA	c.921A>T (p.Ala307=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107863C>A	CA401364055	GAA	c.922C>A (p.His308Asn)
17	g.80107863C=	CA2277812429	GAA	c.922C= (p.His308=)
17	g.80107863C>G	CA401364054	GAA	c.922C>G (p.His308Asp)	ClinVar gnomAD v4
17	g.80107863C>T	CA8815089	GAA	c.922C>T (p.His308Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107864A>C	CA401364056	GAA	c.923A>C (p.His308Pro)	ClinVar dbSNP gnomAD v4
17	g.80107864A>G	CA401364057	GAA	c.923A>G (p.His308Arg)
17	g.80107864A>T	CA401364058	GAA	c.923A>T (p.His308Leu)
17	g.80107865C>A	CA8815090	GAA	c.924C>A (p.His308Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107865C=	CA2277812430	GAA	c.924C= (p.His308=)
17	g.80107865C>G	CA401364060	GAA	c.924C>G (p.His308Gln)
17	g.80107865C>T	CA8815091	GAA	c.924C>T (p.His308=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107866G>A	CA273972	GAA	c.925G>A (p.Gly309Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107866G>C	CA401364061	GAA	c.925G>C (p.Gly309Arg)
17	g.80107866G=	CA2277812431	GAA	c.925G= (p.Gly309=)
17	g.80107866G>T	CA401364062	GAA	c.925G>T (p.Gly309Trp)	ClinVar gnomAD v4
17	g.80107867G>A	CA401364063	GAA	c.926G>A (p.Gly309Glu)	dbSNP
17	g.80107867G>C	CA401364064	GAA	c.926G>C (p.Gly309Ala)
17	g.80107867G=	CA2277812432	GAA	c.926G= (p.Gly309=)
17	g.80107867G>T	CA401364065	GAA	c.926G>T (p.Gly309Val)
17	g.80107868G>A	CA10605937	GAA	c.927G>A (p.Gly309=)	ClinVar dbSNP
17	g.80107868G>C	CA502178032	GAA	c.927G>C (p.Gly309=)
17	g.80107868G=	CA2277812433	GAA	c.927G= (p.Gly309=)
17	g.80107868G>T	CA502178034	GAA	c.927G>T (p.Gly309=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107869G>A	CA401364175	GAA	c.928G>A (p.Val310Met)	ClinVar gnomAD v4
17	g.80107869G>C	CA401364173	GAA	c.928G>C (p.Val310Leu)
17	g.80107869G=	CA2277812434	GAA	c.928G= (p.Val310=)
17	g.80107869G>T	CA294891320	GAA	c.928G>T (p.Val310Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107869_80107872delinsGTGT	CA2277812435	GAA	c.928_931delinsGTGT (p.Val310=)
17	g.80107870T>A	CA401364177	GAA	c.929T>A (p.Val310Glu)
17	g.80107870T>C	CA401364179	GAA	c.929T>C (p.Val310Ala)
17	g.80107870T>G	CA8815092	GAA	c.929T>G (p.Val310Gly)	dbSNP ExAC gnomAD v4
17	g.80107870T=	CA2277812436	GAA	c.929T= (p.Val310=)
17	g.80107871_80107873del	CA913184760	GAA	c.930_932del (p.Phe311del)	dbSNP
17	g.80107871del	CA2739268466	GAA	c.930del (p.Phe311SerfsTer3)	ClinVar
17	g.80107871G>A	CA502178042	GAA	c.930G>A (p.Val310=)	ClinVar dbSNP
17	g.80107871G>C	CA502178043	GAA	c.930G>C (p.Val310=)
17	g.80107871G>T	CA502178045	GAA	c.930G>T (p.Val310=)
17	g.80107872T>A	CA401364181	GAA	c.931T>A (p.Phe311Ile)
17	g.80107872T>C	CA401364183	GAA	c.931T>C (p.Phe311Leu)
17	g.80107872T>G	CA401364185	GAA	c.931T>G (p.Phe311Val)
17	g.80107873T>A	CA401364191	GAA	c.932T>A (p.Phe311Tyr)
17	g.80107873T>C	CA401364187	GAA	c.932T>C (p.Phe311Ser)
17	g.80107873T>G	CA401364189	GAA	c.932T>G (p.Phe311Cys)
17	g.80107873T=	CA2277812438	GAA	c.932T= (p.Phe311=)
17	g.80107873_80107874delinsTC	CA2277812437	GAA	c.932_933delinsTC (p.Phe311=)
17	g.80107873_80107874insG	CA627699044	GAA	c.932_933insG (p.Phe311LeufsTer19)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107874C>A	CA401364194	GAA	c.933C>A (p.Phe311Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.80107874C=	CA2277812439	GAA	c.933C= (p.Phe311=)
17	g.80107874C>G	CA401364195	GAA	c.933C>G (p.Phe311Leu)
17	g.80107874C>T	CA502178052	GAA	c.933C>T (p.Phe311=)
17	g.80107875del	CA10604123	GAA	c.934del (p.Leu312CysfsTer2)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107875C>A	CA8815093	GAA	c.934C>A (p.Leu312Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107875C=	CA2277812440	GAA	c.934C= (p.Leu312=)
17	g.80107875C>G	CA401364200	GAA	c.934C>G (p.Leu312Val)
17	g.80107875C>T	CA502178056	GAA	c.934C>T (p.Leu312=)	ClinVar gnomAD v4
17	g.80107876del	CA2580612668	GAA	c.935del (p.Leu312ArgfsTer2)	ClinVar
17	g.80107876T>A	CA401364202	GAA	c.935T>A (p.Leu312Gln)
17	g.80107876T>C	CA401364205	GAA	c.935T>C (p.Leu312Pro)	gnomAD v4
17	g.80107876T>G	CA401364204	GAA	c.935T>G (p.Leu312Arg)
17	g.80107877G>A	CA502178058	GAA	c.936G>A (p.Leu312=)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.80107877G>C	CA502178060	GAA	c.936G>C (p.Leu312=)
17	g.80107877G=	CA2277812441	GAA	c.936G= (p.Leu312=)
17	g.80107877G>T	CA502178062	GAA	c.936G>T (p.Leu312=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107878C>A	CA401364208	GAA	c.937C>A (p.Leu313Ile)
17	g.80107878C=	CA2277812442	GAA	c.937C= (p.Leu313=)
17	g.80107878C>G	CA401364210	GAA	c.937C>G (p.Leu313Val)	dbSNP gnomAD v4
17	g.80107878C>T	CA502178065	GAA	c.937C>T (p.Leu313=)
17	g.80107879T>A	CA401364211	GAA	c.938T>A (p.Leu313Gln)
17	g.80107879T>C	CA401364213	GAA	c.938T>C (p.Leu313Pro)
17	g.80107879T>G	CA401364215	GAA	c.938T>G (p.Leu313Arg)
17	g.80107880A>C	CA502178073	GAA	c.939A>C (p.Leu313=)
17	g.80107880A>G	CA502178070	GAA	c.939A>G (p.Leu313=)	dbSNP
17	g.80107880A>T	CA502178071	GAA	c.939A>T (p.Leu313=)
17	g.80107882del	CA2640280348	GAA	c.941del (p.Asn314ThrfsTer?)	gnomAD v4
17	g.80107881A>C	CA401364217	GAA	c.940A>C (p.Asn314His)
17	g.80107881A>G	CA401364218	GAA	c.940A>G (p.Asn314Asp)
17	g.80107881A>T	CA401364221	GAA	c.940A>T (p.Asn314Tyr)
17	g.80107882A>C	CA401364223	GAA	c.941A>C (p.Asn314Thr)
17	g.80107882A>G	CA401364224	GAA	c.941A>G (p.Asn314Ser)
17	g.80107882A>T	CA401364227	GAA	c.941A>T (p.Asn314Ile)
17	g.80107883del	CA2640280354	GAA	c.942del (p.Asn314LysfsTer?)	gnomAD v4
17	g.80107883C>A	CA401364229	GAA	c.942C>A (p.Asn314Lys)
17	g.80107883C>G	CA401364230	GAA	c.942C>G (p.Asn314Lys)
17	g.80107883C>T	CA502178080	GAA	c.942C>T (p.Asn314=)	ClinVar dbSNP
17	g.80107884A>C	CA401364233	GAA	c.943A>C (p.Ser315Arg)
17	g.80107884A>G	CA401364234	GAA	c.943A>G (p.Ser315Gly)	gnomAD v4
17	g.80107884A>T	CA401364236	GAA	c.943A>T (p.Ser315Cys)
17	g.80107885G>A	CA294891343	GAA	c.944G>A (p.Ser315Asn)	dbSNP
17	g.80107885G>C	CA401364239	GAA	c.944G>C (p.Ser315Thr)	dbSNP gnomAD v4 COSMIC
17	g.80107885G=	CA2277812443	GAA	c.944G= (p.Ser315=)
17	g.80107885G>T	CA401364240	GAA	c.944G>T (p.Ser315Ile)
17	g.80107886C>A	CA401364242	GAA	c.945C>A (p.Ser315Arg)
17	g.80107886C>G	CA401364243	GAA	c.945C>G (p.Ser315Arg)
17	g.80107886C>T	CA502178086	GAA	c.945C>T (p.Ser315=)	gnomAD v4
17	g.80107887A>C	CA401364246	GAA	c.946A>C (p.Asn316His)
17	g.80107887A>G	CA401364248	GAA	c.946A>G (p.Asn316Asp)	gnomAD v4
17	g.80107887A>T	CA401364250	GAA	c.946A>T (p.Asn316Tyr)
17	g.80107888A>C	CA401364252	GAA	c.947A>C (p.Asn316Thr)
17	g.80107888A>G	CA401364254	GAA	c.947A>G (p.Asn316Ser)
17	g.80107888A>T	CA401364255	GAA	c.947A>T (p.Asn316Ile)
17	g.80107889T>A	CA401364257	GAA	c.948T>A (p.Asn316Lys)
17	g.80107889T>C	CA502178093	GAA	c.948T>C (p.Asn316=)
17	g.80107889T>G	CA401364259	GAA	c.948T>G (p.Asn316Lys)
17	g.80107890G>A	CA401364260	GAA	c.949G>A (p.Ala317Thr)
17	g.80107890G>C	CA401364261	GAA	c.949G>C (p.Ala317Pro)
17	g.80107890G>T	CA401364263	GAA	c.949G>T (p.Ala317Ser)
17	g.80107891C>A	CA401364264	GAA	c.950C>A (p.Ala317Asp)	gnomAD v4
17	g.80107891C=	CA2277812444	GAA	c.950C= (p.Ala317=)
17	g.80107891C>G	CA401364265	GAA	c.950C>G (p.Ala317Gly)
17	g.80107891C>T	CA401364267	GAA	c.950C>T (p.Ala317Val)	dbSNP gnomAD v2 gnomAD v4
17	g.80107892C>A	CA502178100	GAA	c.951C>A (p.Ala317=)	gnomAD v4
17	g.80107892C=	CA2277812445	GAA	c.951C= (p.Ala317=)
17	g.80107892C>G	CA502178104	GAA	c.951C>G (p.Ala317=)
17	g.80107892C>T	CA502178102	GAA	c.951C>T (p.Ala317=)	dbSNP
17	g.80107893A=	CA2277812446	GAA	c.952A= (p.Met318=)
17	g.80107893A>C	CA401364270	GAA	c.952A>C (p.Met318Leu)
17	g.80107893A>G	CA401364271	GAA	c.952A>G (p.Met318Val)	gnomAD v4
17	g.80107893A>T	CA10606846	GAA	c.952A>T (p.Met318Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107894T>A	CA401364275	GAA	c.953T>A (p.Met318Lys)	ClinVar dbSNP
17	g.80107894T>C	CA116590	GAA	c.953T>C (p.Met318Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107894T>G	CA401364278	GAA	c.953T>G (p.Met318Arg)
17	g.80107894T=	CA2277812447	GAA	c.953T= (p.Met318=)
17	g.80107895G>A	CA401364280	GAA	c.954G>A (p.Met318Ile)	ClinVar dbSNP gnomAD v4
17	g.80107895G>C	CA401364284	GAA	c.954G>C (p.Met318Ile)
17	g.80107895G>T	CA401364282	GAA	c.954G>T (p.Met318Ile)	gnomAD v4
17	g.80107897del	CA2831038991	GAA	c.955+1del
17	g.80107896G>A	CA401364287	GAA	c.955G>A (p.Asp319Asn)	ClinVar dbSNP
17	g.80107896G>C	CA401364291	GAA	c.955G>C (p.Asp319His)
17	g.80107896G=	CA2277812448	GAA	c.955G= (p.Asp319=)
17	g.80107896G>T	CA401364289	GAA	c.955G>T (p.Asp319Tyr)
17	g.80107897G>A	CA401364293	GAA	c.955+1G>A (n.955+1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107897G>C	CA401364297	GAA	c.955+1G>C (n.955+1G>C)
17	g.80107897G=	CA2277812449	GAA	c.955+1G= (n.955+1G=)
17	g.80107897G>T	CA401364295	GAA	c.955+1G>T (n.955+1G>T)
17	g.80107898del	CA2640284550	GAA	c.955+2del (n.955+2del)	gnomAD v4
17	g.80107898T>A	CA401364299	GAA	c.955+2T>A (n.955+2T>A)
17	g.80107898T>C	CA401364303	GAA	c.955+2T>C (n.955+2T>C)
17	g.80107898T>G	CA401364301	GAA	c.955+2T>G (n.955+2T>G)
17	g.80107899A=	CA2277812450	GAA	c.955+3A= (n.955+3A=)
17	g.80107899A>G	CA627699045	GAA	c.955+3A>G (n.955+3A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107900del	CA2576413987	GAA	c.955+4del (n.955+4del)
17	g.80107900A=	CA2277812452	GAA	c.955+4A= (n.955+4A=)
17	g.80107900A>T	CA2277812453	GAA	c.955+4A>T (n.955+4A>T)	dbSNP
17	g.80107900_80107902delinsAGC	CA2277812451	GAA	c.955+4_955+6delinsAGC (n.955+4_955+6delinsAGC)
17	g.80107901G>A	CA8815094	GAA	c.955+5G>A (n.955+5G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107901G>C	CA8815095	GAA	c.955+5G>C (n.955+5G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107901G=	CA2277812454	GAA	c.955+5G= (n.955+5G=)
17	g.80107901G>T	CA2640284565	GAA	c.955+5G>T (n.955+5G>T)	gnomAD v4
17	g.80107901_80107902del	CA919905418	GAA	c.955+5_955+6del (n.955+5_955+6del)	ClinVar dbSNP gnomAD v4
17	g.80107902C>T	CA2640284581	GAA	c.955+6C>T (n.955+6C>T)	gnomAD v4
17	g.80107903T>C	CA627699046	GAA	c.955+7T>C (n.955+7T>C)	dbSNP gnomAD v2 gnomAD v4
17	g.80107903T=	CA2277812455	GAA	c.955+7T= (n.955+7T=)
17	g.80107904G>A	CA2640284585	GAA	c.955+8G>A (n.955+8G>A)	gnomAD v4
17	g.80107904G=	CA2277812456	GAA	c.955+8G= (n.955+8G=)
17	g.80107904G>T	CA8815096	GAA	c.955+8G>T (n.955+8G>T)	dbSNP ExAC gnomAD v4
17	g.80107908_80107914del	CA2640284584	GAA	c.955+12_955+18del (n.955+12_955+18del)	ClinVar gnomAD v4
17	g.80107905C>A	CA2640284586	GAA	c.955+9C>A (n.955+9C>A)	gnomAD v4
17	g.80107905C=	CA2277812457	GAA	c.955+9C= (n.955+9C=)
17	g.80107905C>T	CA627699047	GAA	c.955+9C>T (n.955+9C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107906C>A	CA2573154946	GAA	c.955+10C>A (n.955+10C>A)	ClinVar dbSNP gnomAD v4
17	g.80107906C>T	CA2640284590	GAA	c.955+10C>T (n.955+10C>T)	gnomAD v4
17	g.80107907C>A	CA2640284595	GAA	c.955+11C>A (n.955+11C>A)	gnomAD v4
17	g.80107907C=	CA2277812458	GAA	c.955+11C= (n.955+11C=)
17	g.80107907C>G	CA2697555241	GAA	c.955+11C>G (n.955+11C>G)	ClinVar
17	g.80107907C>T	CA8815097	GAA	c.955+11C>T (n.955+11C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107908del	CA2640284604	GAA	c.955+12del (n.955+12del)	gnomAD v4
17	g.80107908G>A	CA145798	GAA	c.955+12G>A (n.955+12G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107908G>C	CA775511777	GAA	c.955+12G>C (n.955+12G>C)	dbSNP gnomAD v4
17	g.80107908G=	CA2277812459	GAA	c.955+12G= (n.955+12G=)
17	g.80107908G>T	CA2581285021	GAA	c.955+12G>T (n.955+12G>T)	gnomAD v4
17	g.80107909C>A	CA2640284612	GAA	c.955+13C>A (n.955+13C>A)	gnomAD v4
17	g.80107909C=	CA2277812460	GAA	c.955+13C= (n.955+13C=)
17	g.80107909C>G	CA8815098	GAA	c.955+13C>G (n.955+13C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107909C>T	CA2640284614	GAA	c.955+13C>T (n.955+13C>T)	ClinVar gnomAD v4
17	g.80107910_80107911insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	CA986705423	GAA	c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC (n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC)	gnomAD v3 gnomAD v4
17	g.80107910C>A	CA8815099	GAA	c.955+14C>A (n.955+14C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107910C=	CA2277812461	GAA	c.955+14C= (n.955+14C=)
17	g.80107910C>T	CA627699048	GAA	c.955+14C>T (n.955+14C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107911G>A	CA8815100	GAA	c.955+15G>A (n.955+15G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107911G>C	CA2640284649	GAA	c.955+15G>C (n.955+15G>C)	gnomAD v4
17	g.80107911G=	CA2277812462	GAA	c.955+15G= (n.955+15G=)
17	g.80107911G>T	CA2640284650	GAA	c.955+15G>T (n.955+15G>T)	gnomAD v4
17	g.80107912C>A	CA2640284653	GAA	c.955+16C>A (n.955+16C>A)	gnomAD v4
17	g.80107912C>T	CA2640284654	GAA	c.955+16C>T (n.955+16C>T)	gnomAD v4
17	g.80107913C>A	CA2640284657	GAA	c.955+17C>A (n.955+17C>A)	gnomAD v4
17	g.80107913C>T	CA2573154947	GAA	c.955+17C>T (n.955+17C>T)	ClinVar dbSNP gnomAD v4
17	g.80107914C>A	CA2576413988	GAA	c.955+18C>A (n.955+18C>A)	gnomAD v4
17	g.80107914C>T	CA2576413989	GAA	c.955+18C>T (n.955+18C>T)	ClinVar dbSNP gnomAD v4
17	g.80107915A>G	CA2640284664	GAA	c.955+19A>G (n.955+19A>G)	ClinVar gnomAD v4
17	g.80107915A>T	CA2640284667	GAA	c.955+19A>T (n.955+19A>T)	gnomAD v4
17	g.80107916G>A	CA775511789	GAA	c.955+20G>A (n.955+20G>A)	dbSNP gnomAD v4
17	g.80107916G>C	CA627699049	GAA	c.955+20G>C (n.955+20G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107916G=	CA2277812463	GAA	c.955+20G= (n.955+20G=)
17	g.80107916G>T	CA2640284668	GAA	c.955+20G>T (n.955+20G>T)	gnomAD v4
17	g.80107917C>A	CA8815102	GAA	c.955+21C>A (n.955+21C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107917C=	CA2277812464	GAA	c.955+21C= (n.955+21C=)
17	g.80107917C>T	CA8815101	GAA	c.955+21C>T (n.955+21C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107918G>A	CA8815103	GAA	c.955+22G>A (n.955+22G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107918G>C	CA2640284675	GAA	c.955+22G>C (n.955+22G>C)	gnomAD v4
17	g.80107918G=	CA2277812465	GAA	c.955+22G= (n.955+22G=)
17	g.80107918G>T	CA2640284677	GAA	c.955+22G>T (n.955+22G>T)	gnomAD v4
17	g.80107919C>A	CA2640284682	GAA	c.955+23C>A (n.955+23C>A)	gnomAD v4
17	g.80107919C=	CA2277812466	GAA	c.955+23C= (n.955+23C=)
17	g.80107919C>T	CA8815104	GAA	c.955+23C>T (n.955+23C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107921del	CA2640284680	GAA	c.955+25del (n.955+25del)	gnomAD v4
17	g.80107920C>A	CA2576413990	GAA	c.955+24C>A (n.955+24C>A)	gnomAD v4
17	g.80107921C>A	CA2640284691	GAA	c.955+25C>A (n.955+25C>A)	gnomAD v4
17	g.80107921C=	CA2277812467	GAA	c.955+25C= (n.955+25C=)
17	g.80107921C>T	CA8815105	GAA	c.955+25C>T (n.955+25C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107922G>A	CA8815106	GAA	c.955+26G>A (n.955+26G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107922G=	CA2277812468	GAA	c.955+26G= (n.955+26G=)
17	g.80107922G>T	CA2576413991	GAA	c.955+26G>T (n.955+26G>T)	gnomAD v4
17	g.80107924dup	CA919905419	GAA	c.955+28dup (n.955+28dup)	dbSNP
17	g.80107923G>A	CA2640284695	GAA	c.955+27G>A (n.955+27G>A)	gnomAD v4
17	g.80107923G>T	CA2640284697	GAA	c.955+27G>T (n.955+27G>T)	gnomAD v4
17	g.80107924G>A	CA627699052	GAA	c.955+28G>A (n.955+28G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80107924G=	CA2277812469	GAA	c.955+28G= (n.955+28G=)
17	g.80107924G>T	CA2640284702	GAA	c.955+28G>T (n.955+28G>T)	gnomAD v4
17	g.80107925C>A	CA2640284705	GAA	c.955+29C>A (n.955+29C>A)	gnomAD v4
17	g.80107925C>G	CA2640284707	GAA	c.955+29C>G (n.955+29C>G)	gnomAD v4
17	g.80107925C>T	CA2640284710	GAA	c.955+29C>T (n.955+29C>T)	gnomAD v4
17	g.80107926del	CA2640284704	GAA	c.955+30del (n.955+30del)	gnomAD v4
17	g.80107926C>A	CA2640284714	GAA	c.955+30C>A (n.955+30C>A)	dbSNP gnomAD v4
17	g.80107926C=	CA2277812470	GAA	c.955+30C= (n.955+30C=)
17	g.80107926C>G	CA8815108	GAA	c.955+30C>G (n.955+30C>G)	dbSNP ExAC
17	g.80107926C>T	CA8815107	GAA	c.955+30C>T (n.955+30C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107927G>A	CA294891420	GAA	c.955+31G>A (n.955+31G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107927G=	CA2277812471	GAA	c.955+31G= (n.955+31G=)
17	g.80107928G>A	CA2640284718	GAA	c.955+32G>A (n.955+32G>A)	gnomAD v4
17	g.80107928G>C	CA627699055	GAA	c.955+32G>C (n.955+32G>C)	dbSNP gnomAD v2
17	g.80107928G=	CA2277812472	GAA	c.955+32G= (n.955+32G=)
17	g.80107928G>T	CA2810576433	GAA	c.955+32G>T (n.955+32G>T)
17	g.80107929G>A	CA627699056	GAA	c.955+33G>A (n.955+33G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80107929G>C	CA2640284722	GAA	c.955+33G>C (n.955+33G>C)	gnomAD v4
17	g.80107929G=	CA2277812473	GAA	c.955+33G= (n.955+33G=)
17	g.80107929G>T	CA8815109	GAA	c.955+33G>T (n.955+33G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107930G>A	CA775511827	GAA	c.955+34G>A (n.955+34G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107930G=	CA2277812474	GAA	c.955+34G= (n.955+34G=)
17	g.80107930G>T	CA8815110	GAA	c.955+34G>T (n.955+34G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107931_80107941del	CA2640284767	GAA	c.955+35_955+45del (n.955+35_955+45del)	gnomAD v4

Number of alleles fetched