Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.12290657C>A	CA362856068	EDN1	c.28C>A (p.Leu10Met)
6	g.12290657C>G	CA362856069	EDN1	c.28C>G (p.Leu10Val)
6	g.12290657C>T	CA448427588	EDN1	c.28C>T (p.Leu10=)
6	g.12290658T>A	CA362856070	EDN1	c.29T>A (p.Leu10Gln)
6	g.12290658T>C	CA362856071	EDN1	c.29T>C (p.Leu10Pro)
6	g.12290658T>G	CA362856072	EDN1	c.29T>G (p.Leu10Arg)
6	g.12290659G>A	CA448427589	EDN1	c.30G>A (p.Leu10=)	gnomAD v4
6	g.12290659G>C	CA448427590	EDN1	c.30G>C (p.Leu10=)	gnomAD v4
6	g.12290659G>T	CA448427591	EDN1	c.30G>T (p.Leu10=)
6	g.12290660C>A	CA362856073	EDN1	c.31C>A (p.Leu11Met)
6	g.12290660C=	CA1610841822	EDN1	c.31C= (p.Leu11=)
6	g.12290660C>G	CA362856074	EDN1	c.31C>G (p.Leu11Val)
6	g.12290660C>T	CA448427592	EDN1	c.31C>T (p.Leu11=)	dbSNP gnomAD v4 COSMIC
6	g.12290661T>A	CA362856075	EDN1	c.32T>A (p.Leu11Gln)	gnomAD v4
6	g.12290661T>C	CA362856076	EDN1	c.32T>C (p.Leu11Pro)
6	g.12290661T>G	CA362856077	EDN1	c.32T>G (p.Leu11Arg)
6	g.12290662G>A	CA448427595	EDN1	c.33G>A (p.Leu11=)	dbSNP gnomAD v2 gnomAD v4
6	g.12290662G>C	CA448427593	EDN1	c.33G>C (p.Leu11=)
6	g.12290662G=	CA1610841825	EDN1	c.33G= (p.Leu11=)
6	g.12290662G>T	CA448427594	EDN1	c.33G>T (p.Leu11=)
6	g.12290663T>A	CA362856079	EDN1	c.34T>A (p.Phe12Ile)
6	g.12290663T>C	CA362856080	EDN1	c.34T>C (p.Phe12Leu)	gnomAD v4
6	g.12290663T>G	CA362856078	EDN1	c.34T>G (p.Phe12Val)
6	g.12290664T>A	CA362856081	EDN1	c.35T>A (p.Phe12Tyr)
6	g.12290664T>C	CA362856083	EDN1	c.35T>C (p.Phe12Ser)
6	g.12290664T>G	CA362856082	EDN1	c.35T>G (p.Phe12Cys)
6	g.12290665T>A	CA362856084	EDN1	c.36T>A (p.Phe12Leu)
6	g.12290665T>C	CA448427596	EDN1	c.36T>C (p.Phe12=)
6	g.12290665T>G	CA362856085	EDN1	c.36T>G (p.Phe12Leu)
6	g.12290666G>A	CA362856086	EDN1	c.37G>A (p.Val13Met)
6	g.12290666G>C	CA362856087	EDN1	c.37G>C (p.Val13Leu)
6	g.12290666G>T	CA362856088	EDN1	c.37G>T (p.Val13Leu)
6	g.12290667T>A	CA362856089	EDN1	c.38T>A (p.Val13Glu)
6	g.12290667T>C	CA362856090	EDN1	c.38T>C (p.Val13Ala)
6	g.12290667T>G	CA362856091	EDN1	c.38T>G (p.Val13Gly)
6	g.12290668G>A	CA448427599	EDN1	c.39G>A (p.Val13=)	dbSNP gnomAD v4
6	g.12290668G>C	CA448427597	EDN1	c.39G>C (p.Val13=)
6	g.12290668G=	CA1610841828	EDN1	c.39G= (p.Val13=)
6	g.12290668G>T	CA448427598	EDN1	c.39G>T (p.Val13=)
6	g.12290669G>A	CA362856092	EDN1	c.40G>A (p.Ala14Thr)
6	g.12290669G>C	CA362856093	EDN1	c.40G>C (p.Ala14Pro)	gnomAD v4
6	g.12290669G>T	CA362856094	EDN1	c.40G>T (p.Ala14Ser)
6	g.12290673_12290762del	CA3638572	EDN1	c.44_64+69del	ExAC
6	g.12290670C>A	CA362856097	EDN1	c.41C>A (p.Ala14Asp)
6	g.12290670C=	CA1610841832	EDN1	c.41C= (p.Ala14=)
6	g.12290670C>G	CA362856095	EDN1	c.41C>G (p.Ala14Gly)
6	g.12290670C>T	CA362856096	EDN1	c.41C>T (p.Ala14Val)
6	g.12290671T>A	CA448427600	EDN1	c.42T>A (p.Ala14=)
6	g.12290671T>C	CA448427601	EDN1	c.42T>C (p.Ala14=)	dbSNP gnomAD v2 gnomAD v4
6	g.12290671T>G	CA448427602	EDN1	c.42T>G (p.Ala14=)
6	g.12290671T=	CA1610841837	EDN1	c.42T= (p.Ala14=)
6	g.12290672dup	CA3638573	EDN1	c.43dup (p.Cys15LeufsTer13) c.43dup (p.Cys15LeufsTer12)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290671_12290672dup	CA2740720991	EDN1	c.42_43dup (p.Cys15PhefsTer11) c.42_43dup (p.Cys15PhefsTer10)
6	g.12290672T>A	CA362856098	EDN1	c.43T>A (p.Cys15Ser)
6	g.12290672T>C	CA362856099	EDN1	c.43T>C (p.Cys15Arg)
6	g.12290672T>G	CA362856100	EDN1	c.43T>G (p.Cys15Gly)
6	g.12290673G>A	CA362856101	EDN1	c.44G>A (p.Cys15Tyr)
6	g.12290673G>C	CA362856102	EDN1	c.44G>C (p.Cys15Ser)	dbSNP gnomAD v2 gnomAD v4
6	g.12290673G=	CA1610841844	EDN1	c.44G= (p.Cys15=)
6	g.12290673G>T	CA3638574	EDN1	c.44G>T (p.Cys15Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290674C>A	CA362856103	EDN1	c.45C>A (p.Cys15Ter)
6	g.12290674C=	CA1610841848	EDN1	c.45C= (p.Cys15=)
6	g.12290674C>G	CA3638576	EDN1	c.45C>G (p.Cys15Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290674C>T	CA3638575	EDN1	c.45C>T (p.Cys15=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290675C>A	CA3638577	EDN1	c.46C>A (p.Gln16Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290675C=	CA1610841854	EDN1	c.46C= (p.Gln16=)
6	g.12290675C>G	CA362856105	EDN1	c.46C>G (p.Gln16Glu)
6	g.12290675C>T	CA362856104	EDN1	c.46C>T (p.Gln16Ter)	gnomAD v4
6	g.12290676A=	CA1610841857	EDN1	c.47A= (p.Gln16=)
6	g.12290676A>C	CA3638578	EDN1	c.47A>C (p.Gln16Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290676A>G	CA362856106	EDN1	c.47A>G (p.Gln16Arg)
6	g.12290676A>T	CA3638579	EDN1	c.47A>T (p.Gln16Leu)	dbSNP ExAC gnomAD v2
6	g.12290677A>C	CA362856107	EDN1	c.48A>C (p.Gln16His)
6	g.12290677A>G	CA448427603	EDN1	c.48A>G (p.Gln16=)
6	g.12290677A>T	CA362856108	EDN1	c.48A>T (p.Gln16His)
6	g.12290678G>A	CA3638580	EDN1	c.49G>A (p.Gly17Arg)	dbSNP ExAC gnomAD v4
6	g.12290678G>C	CA362856109	EDN1	c.49G>C (p.Gly17Arg)
6	g.12290678G=	CA1610841858	EDN1	c.49G= (p.Gly17=)
6	g.12290678G>T	CA3638581	EDN1	c.49G>T (p.Gly17Ter)	dbSNP ExAC
6	g.12290679del	CA2677349836	EDN1	c.50del (p.Gly17GlufsTer8) c.50del (p.Gly17GlufsTer7)	gnomAD v4
6	g.12290679G>A	CA3638582	EDN1	c.50G>A (p.Gly17Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290679G>C	CA362856110	EDN1	c.50G>C (p.Gly17Ala)
6	g.12290679G=	CA1610841859	EDN1	c.50G= (p.Gly17=)
6	g.12290679G>T	CA362856111	EDN1	c.50G>T (p.Gly17Val)
6	g.12290680A>C	CA448427606	EDN1	c.51A>C (p.Gly17=)
6	g.12290680A>G	CA448427604	EDN1	c.51A>G (p.Gly17=)
6	g.12290680A>T	CA448427605	EDN1	c.51A>T (p.Gly17=)
6	g.12290681G>A	CA3638583	EDN1	c.52G>A (p.Ala18Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290681G>C	CA362856112	EDN1	c.52G>C (p.Ala18Pro)
6	g.12290681G=	CA1610841861	EDN1	c.52G= (p.Ala18=)
6	g.12290681G>T	CA134216952	EDN1	c.52G>T (p.Ala18Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.12290682C>A	CA362856113	EDN1	c.53C>A (p.Ala18Asp)
6	g.12290682C=	CA1610841862	EDN1	c.53C= (p.Ala18=)
6	g.12290682C>G	CA3638584	EDN1	c.53C>G (p.Ala18Gly)	dbSNP ExAC
6	g.12290682C>T	CA362856114	EDN1	c.53C>T (p.Ala18Val)
6	g.12290683T>A	CA448427607	EDN1	c.54T>A (p.Ala18=)
6	g.12290683T>C	CA448427609	EDN1	c.54T>C (p.Ala18=)
6	g.12290683T>G	CA448427608	EDN1	c.54T>G (p.Ala18=)
6	g.12290684C>A	CA362856115	EDN1	c.55C>A (p.Pro19Thr)	gnomAD v4
6	g.12290684C>G	CA362856116	EDN1	c.55C>G (p.Pro19Ala)	gnomAD v4
6	g.12290684C>T	CA362856117	EDN1	c.55C>T (p.Pro19Ser)
6	g.12290685C>A	CA3638585	EDN1	c.56C>A (p.Pro19Gln)	dbSNP ExAC
6	g.12290685C=	CA1610841867	EDN1	c.56C= (p.Pro19=)
6	g.12290685C>G	CA362856118	EDN1	c.56C>G (p.Pro19Arg)
6	g.12290685C>T	CA362856119	EDN1	c.56C>T (p.Pro19Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.12290686A>C	CA448427610	EDN1	c.57A>C (p.Pro19=)	gnomAD v4
6	g.12290686A>G	CA448427611	EDN1	c.57A>G (p.Pro19=)
6	g.12290686A>T	CA448427612	EDN1	c.57A>T (p.Pro19=)
6	g.12290687G>A	CA362856120	EDN1	c.58G>A (p.Glu20Lys)
6	g.12290687G>C	CA362856121	EDN1	c.58G>C (p.Glu20Gln)
6	g.12290687G>T	CA362856122	EDN1	c.58G>T (p.Glu20Ter)
6	g.12290688A>C	CA362856123	EDN1	c.59A>C (p.Glu20Ala)
6	g.12290688A>G	CA362856124	EDN1	c.59A>G (p.Glu20Gly)
6	g.12290688A>T	CA362856125	EDN1	c.59A>T (p.Glu20Val)
6	g.12290689A>C	CA362856126	EDN1	c.60A>C (p.Glu20Asp)	gnomAD v4
6	g.12290689A>G	CA448427613	EDN1	c.60A>G (p.Glu20=)
6	g.12290689A>T	CA362856127	EDN1	c.60A>T (p.Glu20Asp)
6	g.12290690A>C	CA362856128	EDN1	c.61A>C (p.Thr21Pro)
6	g.12290690A>G	CA362856130	EDN1	c.61A>G (p.Thr21Ala)
6	g.12290690A>T	CA362856129	EDN1	c.61A>T (p.Thr21Ser)
6	g.12290691C>A	CA134216956	EDN1	c.62C>A (p.Thr21Lys)	dbSNP gnomAD v4
6	g.12290691C=	CA1610841870	EDN1	c.62C= (p.Thr21=)
6	g.12290691C>G	CA362856132	EDN1	c.62C>G (p.Thr21Arg)
6	g.12290691C>T	CA362856131	EDN1	c.62C>T (p.Thr21Ile)
6	g.12290692A=	CA1610841875	EDN1	c.63A= (p.Thr21=)
6	g.12290692A>C	CA448427614	EDN1	c.63A>C (p.Thr21=)
6	g.12290692A>G	CA3638586	EDN1	c.63A>G (p.Thr21=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290692A>T	CA448427615	EDN1	c.63A>T (p.Thr21=)
6	g.12290693G>A	CA362856133	EDN1	c.64G>A (p.Ala22Thr) c.64G>A (p.Val22Ile)
6	g.12290693G>C	CA362856134	EDN1	c.64G>C (p.Ala22Pro) c.64G>C (p.Val22Leu)
6	g.12290693G>T	CA362856135	EDN1	c.64G>T (p.Ala22Ser) c.64G>T (p.Val22Phe)
6	g.12290694G>A	CA362856136	EDN1	c.64+1G>A (n.64+1G>A)
6	g.12290694G>C	CA362856137	EDN1	c.64+1G>C (n.64+1G>C)
6	g.12290694G>T	CA362856138	EDN1	c.64+1G>T (n.64+1G>T)
6	g.12290695T>A	CA362856139	EDN1	c.64+2T>A (n.64+2T>A)
6	g.12290695T>C	CA362856140	EDN1	c.64+2T>C (n.64+2T>C)
6	g.12290695T>G	CA362856141	EDN1	c.64+2T>G (n.64+2T>G)	gnomAD v4
6	g.12290695T=	CA1610841884	EDN1	c.64+2T= (n.64+2T=)
6	g.12290696A>G	CA2677349837	EDN1	c.64+3A>G (n.64+3A>G)	gnomAD v4
6	g.12290696dup	CA565606513	EDN1	c.64+3dup (n.64+3dup)	dbSNP gnomAD v2 gnomAD v4
6	g.12290697G>C	CA3638587	EDN1	c.64+4G>C (n.64+4G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290697G=	CA1610841897	EDN1	c.64+4G= (n.64+4G=)
6	g.12290698G>A	CA2578531267	EDN1	c.64+5G>A (n.64+5G>A)	gnomAD v4
6	g.12290698G=	CA1610841899	EDN1	c.64+5G= (n.64+5G=)
6	g.12290698G>T	CA1610841901	EDN1	c.64+5G>T (n.64+5G>T)	dbSNP gnomAD v4
6	g.12290699C>A	CA2677349838	EDN1	c.64+6C>A (n.64+6C>A)	gnomAD v4
6	g.12290701C>A	CA818251712	EDN1	c.64+8C>A (n.64+8C>A)	dbSNP gnomAD v4
6	g.12290701C=	CA1610841908	EDN1	c.64+8C= (n.64+8C=)
6	g.12290701C>G	CA134216960	EDN1	c.64+8C>G (n.64+8C>G)	dbSNP gnomAD v4
6	g.12290701C>T	CA3638588	EDN1	c.64+8C>T (n.64+8C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290702G>A	CA134216963	EDN1	c.64+9G>A (n.64+9G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290702G=	CA1610841911	EDN1	c.64+9G= (n.64+9G=)
6	g.12290702G>T	CA3638589	EDN1	c.64+9G>T (n.64+9G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290705C>A	CA2677349839	EDN1	c.64+12C>A (n.64+12C>A)	gnomAD v4
6	g.12290705C=	CA1610841915	EDN1	c.64+12C= (n.64+12C=)
6	g.12290705C>G	CA3638590	EDN1	c.64+12C>G (n.64+12C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290705C>T	CA818251718	EDN1	c.64+12C>T (n.64+12C>T)	dbSNP gnomAD v4
6	g.12290706G>A	CA818251722	EDN1	c.64+13G>A (n.64+13G>A)	dbSNP gnomAD v3 gnomAD v4
6	g.12290706G>C	CA2677349840	EDN1	c.64+13G>C (n.64+13G>C)	gnomAD v4
6	g.12290706G=	CA1610841917	EDN1	c.64+13G= (n.64+13G=)
6	g.12290707T>C	CA1610841924	EDN1	c.64+14T>C (n.64+14T>C)	dbSNP gnomAD v4
6	g.12290707T=	CA1610841922	EDN1	c.64+14T= (n.64+14T=)
6	g.12290711C=	CA1610841926	EDN1	c.64+18C= (n.64+18C=)
6	g.12290711C>T	CA3638591	EDN1	c.64+18C>T (n.64+18C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290712T>C	CA1610841930	EDN1	c.64+19T>C (n.64+19T>C)	dbSNP gnomAD v3 gnomAD v4
6	g.12290712T=	CA1610841929	EDN1	c.64+19T= (n.64+19T=)
6	g.12290713_12290714delinsTG	CA1610841932	EDN1	c.64+20_64+21delinsTG (n.64+20_64+21delinsTG)
6	g.12290714del	CA565606535	EDN1	c.64+21del (n.64+21del)	dbSNP gnomAD v2 gnomAD v4
6	g.12290714G>A	CA3638592	EDN1	c.64+21G>A (n.64+21G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290714G>C	CA1610841936	EDN1	c.64+21G>C (n.64+21G>C)	dbSNP gnomAD v4
6	g.12290714G=	CA1610841935	EDN1	c.64+21G= (n.64+21G=)
6	g.12290715dup	CA2677349841	EDN1	c.64+22dup (n.64+22dup)	gnomAD v4
6	g.12290718G>A	CA565606545	EDN1	c.64+25G>A (n.64+25G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290718G>C	CA2677349842	EDN1	c.64+25G>C (n.64+25G>C)	gnomAD v4
6	g.12290718G=	CA1610841940	EDN1	c.64+25G= (n.64+25G=)
6	g.12290718G>T	CA2677349843	EDN1	c.64+25G>T (n.64+25G>T)	gnomAD v4
6	g.12290720C>A	CA2677349844	EDN1	c.64+27C>A (n.64+27C>A)	gnomAD v4
6	g.12290720C>T	CA2578531268	EDN1	c.64+27C>T (n.64+27C>T)	gnomAD v4
6	g.12290721del	CA2677349845	EDN1	c.64+28del (n.64+28del)	gnomAD v4
6	g.12290722C>A	CA2677349846	EDN1	c.64+29C>A (n.64+29C>A)	gnomAD v4
6	g.12290722C=	CA1610841944	EDN1	c.64+29C= (n.64+29C=)
6	g.12290722C>G	CA3638594	EDN1	c.64+29C>G (n.64+29C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290722C>T	CA3638593	EDN1	c.64+29C>T (n.64+29C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290723G>A	CA565606554	EDN1	c.64+30G>A (n.64+30G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290723G=	CA1610841950	EDN1	c.64+30G= (n.64+30G=)
6	g.12290723G>T	CA134216969	EDN1	c.64+30G>T (n.64+30G>T)	dbSNP gnomAD v3 gnomAD v4
6	g.12290723_12290724insA	CA2677349847	EDN1	c.64+30_64+31insA (n.64+30_64+31insA)	gnomAD v4
6	g.12290724G>T	CA2677349848	EDN1	c.64+31G>T (n.64+31G>T)	gnomAD v4
6	g.12290726A>C	CA2677349849	EDN1	c.64+33A>C (n.64+33A>C)	gnomAD v4
6	g.12290728T>A	CA2677349850	EDN1	c.64+35T>A (n.64+35T>A)	gnomAD v4
6	g.12290730C>A	CA3638595	EDN1	c.64+37C>A (n.64+37C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290730C=	CA1610841953	EDN1	c.64+37C= (n.64+37C=)
6	g.12290730C>T	CA2677349852	EDN1	c.64+37C>T (n.64+37C>T)	gnomAD v4
6	g.12290730_12290735del	CA2677349851	EDN1	c.64+37_64+42del (n.64+37_64+42del)	gnomAD v4
6	g.12290731A=	CA1610841956	EDN1	c.64+38A= (n.64+38A=)
6	g.12290731A>G	CA3638596	EDN1	c.64+38A>G (n.64+38A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290731A>T	CA650509116	EDN1	c.64+38A>T (n.64+38A>T)	COSMIC
6	g.12290733G>A	CA2677349853	EDN1	c.64+40G>A (n.64+40G>A)	gnomAD v4
6	g.12290733G>T	CA2677349854	EDN1	c.64+40G>T (n.64+40G>T)	gnomAD v4
6	g.12290734T>C	CA3638597	EDN1	c.64+41T>C (n.64+41T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.12290734T>G	CA565606565	EDN1	c.64+41T>G (n.64+41T>G)	dbSNP gnomAD v2 gnomAD v4
6	g.12290734T=	CA1610841966	EDN1	c.64+41T= (n.64+41T=)
6	g.12290735del	CA2677349855	EDN1	c.64+42del (n.64+42del)	gnomAD v4
6	g.12290735T>C	CA2677349856	EDN1	c.64+42T>C (n.64+42T>C)	gnomAD v4
6	g.12290737G>A	CA818251765	EDN1	c.64+44G>A (n.64+44G>A)	dbSNP gnomAD v3 gnomAD v4
6	g.12290737G=	CA1610841968	EDN1	c.64+44G= (n.64+44G=)
6	g.12290738T>A	CA2578531269	EDN1	c.64+45T>A (n.64+45T>A)
6	g.12290738T>C	CA1086089875	EDN1	c.64+45T>C (n.64+45T>C)	dbSNP gnomAD v3 gnomAD v4
6	g.12290738T=	CA1610841970	EDN1	c.64+45T= (n.64+45T=)
6	g.12290739G>A	CA818251773	EDN1	c.64+46G>A (n.64+46G>A)	dbSNP gnomAD v3 gnomAD v4
6	g.12290739G=	CA1610841972	EDN1	c.64+46G= (n.64+46G=)
6	g.12290741G>A	CA2578531270	EDN1	c.64+48G>A (n.64+48G>A)	gnomAD v4
6	g.12290741G=	CA1610841975	EDN1	c.64+48G= (n.64+48G=)
6	g.12290741G>T	CA134216973	EDN1	c.64+48G>T (n.64+48G>T)	dbSNP
6	g.12290743T>C	CA565606567	EDN1	c.64+50T>C (n.64+50T>C)	dbSNP gnomAD v2 gnomAD v4
6	g.12290743T>G	CA3638598	EDN1	c.64+50T>G (n.64+50T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.12290743T=	CA1610841980	EDN1	c.64+50T= (n.64+50T=)
6	g.12290744C>A	CA2677349857	EDN1	c.64+51C>A (n.64+51C>A)	gnomAD v4
6	g.12290745T>C	CA818251787	EDN1	c.64+52T>C (n.64+52T>C)	dbSNP
6	g.12290745T=	CA1610841984	EDN1	c.64+52T= (n.64+52T=)
6	g.12290748T>C	CA134216976	EDN1	c.64+55T>C (n.64+55T>C)	dbSNP gnomAD v4
6	g.12290748T=	CA1610841987	EDN1	c.64+55T= (n.64+55T=)
6	g.12290748_12290749delinsTC	CA1610841989	EDN1	c.64+55_64+56delinsTC (n.64+55_64+56delinsTC)
6	g.12290749C>A	CA2677349858	EDN1	c.64+56C>A (n.64+56C>A)	gnomAD v4
6	g.12290749C>T	CA2677349859	EDN1	c.64+56C>T (n.64+56C>T)	gnomAD v4
6	g.12290750del	CA818251790	EDN1	c.64+57del (n.64+57del)	dbSNP gnomAD v3 gnomAD v4
6	g.12290750C>A	CA2578531271	EDN1	c.64+57C>A (n.64+57C>A)	gnomAD v4
6	g.12290750C>T	CA2677349860	EDN1	c.64+57C>T (n.64+57C>T)	gnomAD v4
6	g.12290751A=	CA1610841994	EDN1	c.64+58A= (n.64+58A=)
6	g.12290751A>G	CA134216977	EDN1	c.64+58A>G (n.64+58A>G)	dbSNP
6	g.12290752C>A	CA2578531272	EDN1	c.64+59C>A (n.64+59C>A)
6	g.12290753C>A	CA2677349861	EDN1	c.64+60C>A (n.64+60C>A)	gnomAD v4
6	g.12290753C>T	CA650509117	EDN1	c.64+60C>T (n.64+60C>T)	COSMIC
6	g.12290754T>G	CA2578531273	EDN1	c.64+61T>G (n.64+61T>G)	gnomAD v4
6	g.12290756C>T	CA2578531274	EDN1	c.64+63C>T (n.64+63C>T)

Number of alleles fetched