Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418856C>A	CA350685823	DES	c.394C>A (p.Gln132Lys)	gnomAD v4
2	g.219418856C=	CA1329210040	DES	c.394C= (p.Gln132=)
2	g.219418856C>G	CA350685826	DES	c.394C>G (p.Gln132Glu)
2	g.219418856C>T	CA16610670	DES	c.394C>T (p.Gln132Ter)	ClinVar dbSNP
2	g.219418857A=	CA1329210041	DES	c.395A= (p.Gln132=)
2	g.219418857A>C	CA350685831	DES	c.395A>C (p.Gln132Pro)
2	g.219418857A>G	CA350685835	DES	c.395A>G (p.Gln132Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.219418857A>T	CA350685839	DES	c.395A>T (p.Gln132Leu)
2	g.219418858G>A	CA431427644	DES	c.396G>A (p.Gln132=)	gnomAD v4
2	g.219418858G>C	CA350685844	DES	c.396G>C (p.Gln132His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418858G=	CA1329210042	DES	c.396G= (p.Gln132=)
2	g.219418858G>T	CA350685850	DES	c.396G>T (p.Gln132His)	gnomAD v4
2	g.219418859A=	CA1329210043	DES	c.397A= (p.Asn133=)
2	g.219418859A>C	CA65981215	DES	c.397A>C (p.Asn133His)	dbSNP
2	g.219418859A>G	CA350685858	DES	c.397A>G (p.Asn133Asp)
2	g.219418859A>T	CA350685861	DES	c.397A>T (p.Asn133Tyr)
2	g.219418860A>C	CA350685864	DES	c.398A>C (p.Asn133Thr)
2	g.219418860A>G	CA350685868	DES	c.398A>G (p.Asn133Ser)
2	g.219418860A>T	CA350685875	DES	c.398A>T (p.Asn133Ile)
2	g.219418860_219418871delinsACGCGGCGCTCG	CA1329210044	DES	c.398_409delinsACGCGGCGCTCG (p.Asn133=)
2	g.219418861C>A	CA350685878	DES	c.399C>A (p.Asn133Lys)
2	g.219418861C>G	CA350685880	DES	c.399C>G (p.Asn133Lys)
2	g.219418861C>T	CA431427653	DES	c.399C>T (p.Asn133=)	ClinVar gnomAD v4
2	g.219418862_219418872del	CA1042520775	DES	c.400_410del (p.Ala134ArgfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418862G>A	CA350685885	DES	c.400G>A (p.Ala134Thr)	dbSNP gnomAD v2
2	g.219418862G>C	CA350685890	DES	c.400G>C (p.Ala134Pro)
2	g.219418862G=	CA1329210045	DES	c.400G= (p.Ala134=)
2	g.219418862G>T	CA350685887	DES	c.400G>T (p.Ala134Ser)	gnomAD v4
2	g.219418863C>A	CA350685894	DES	c.401C>A (p.Ala134Glu)	ClinVar gnomAD v4
2	g.219418863C>G	CA350685897	DES	c.401C>G (p.Ala134Gly)
2	g.219418863C>T	CA350685902	DES	c.401C>T (p.Ala134Val)	gnomAD v4
2	g.219418864G>A	CA65981216	DES	c.402G>A (p.Ala134=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418864G>C	CA431427658	DES	c.402G>C (p.Ala134=)
2	g.219418864G=	CA1329210046	DES	c.402G= (p.Ala134=)
2	g.219418864G>T	CA431427659	DES	c.402G>T (p.Ala134=)	gnomAD v4
2	g.219418865G>A	CA350685912	DES	c.403G>A (p.Ala135Thr)	gnomAD v4
2	g.219418865G>C	CA350685913	DES	c.403G>C (p.Ala135Pro)
2	g.219418865G>T	CA350685914	DES	c.403G>T (p.Ala135Ser)
2	g.219418866C>A	CA350685918	DES	c.404C>A (p.Ala135Glu)	dbSNP gnomAD v4
2	g.219418866C=	CA1329210047	DES	c.404C= (p.Ala135=)
2	g.219418866C>G	CA350685921	DES	c.404C>G (p.Ala135Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418866C>T	CA2125063	DES	c.404C>T (p.Ala135Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418867G>A	CA431427672	DES	c.405G>A (p.Ala135=)	ClinVar dbSNP gnomAD v4
2	g.219418867G>C	CA431427674	DES	c.405G>C (p.Ala135=)	gnomAD v4
2	g.219418867G=	CA1329210048	DES	c.405G= (p.Ala135=)
2	g.219418867G>T	CA431427676	DES	c.405G>T (p.Ala135=)	dbSNP gnomAD v4
2	g.219418868C>A	CA350685935	DES	c.406C>A (p.Leu136Ile)	gnomAD v4
2	g.219418868C=	CA1329210049	DES	c.406C= (p.Leu136=)
2	g.219418868C>G	CA350685931	DES	c.406C>G (p.Leu136Val)	ClinVar dbSNP gnomAD v4
2	g.219418868C>T	CA350685928	DES	c.406C>T (p.Leu136Phe)	dbSNP gnomAD v2
2	g.219418869T>A	CA133850	DES	c.407T>A (p.Leu136His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418869T>C	CA350685955	DES	c.407T>C (p.Leu136Pro)	ClinVar dbSNP gnomAD v4
2	g.219418869T>G	CA350685940	DES	c.407T>G (p.Leu136Arg)
2	g.219418869T=	CA1329210050	DES	c.407T= (p.Leu136=)
2	g.219418870C>A	CA431427685	DES	c.408C>A (p.Leu136=)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219418870C=	CA1329210051	DES	c.408C= (p.Leu136=)
2	g.219418870C>G	CA431427686	DES	c.408C>G (p.Leu136=)
2	g.219418870C>T	CA133853	DES	c.408C>T (p.Leu136=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418871G>A	CA350685966	DES	c.409G>A (p.Ala137Thr)	ClinVar
2	g.219418871G>C	CA350685969	DES	c.409G>C (p.Ala137Pro)	gnomAD v4 COSMIC
2	g.219418871G>T	CA350685972	DES	c.409G>T (p.Ala137Ser)	gnomAD v4
2	g.219418872C>A	CA10581947	DES	c.410C>A (p.Ala137Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418872C=	CA1329210052	DES	c.410C= (p.Ala137=)
2	g.219418872C>G	CA350685980	DES	c.410C>G (p.Ala137Gly)	gnomAD v4
2	g.219418872C>T	CA2125064	DES	c.410C>T (p.Ala137Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418873C>A	CA431427706	DES	c.411C>A (p.Ala137=)	gnomAD v4
2	g.219418873C=	CA1329210053	DES	c.411C= (p.Ala137=)
2	g.219418873C>G	CA2125065	DES	c.411C>G (p.Ala137=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418873C>T	CA431427703	DES	c.411C>T (p.Ala137=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.219418874G>A	CA350685989	DES	c.412G>A (p.Ala138Thr)	dbSNP gnomAD v4
2	g.219418874G>C	CA350685992	DES	c.412G>C (p.Ala138Pro)
2	g.219418874G=	CA1329210054	DES	c.412G= (p.Ala138=)
2	g.219418874G>T	CA350685995	DES	c.412G>T (p.Ala138Ser)	gnomAD v4
2	g.219418875C>A	CA350685997	DES	c.413C>A (p.Ala138Asp)
2	g.219418875C>G	CA350685998	DES	c.413C>G (p.Ala138Gly)
2	g.219418875C>T	CA350685999	DES	c.413C>T (p.Ala138Val)
2	g.219418876C>A	CA431427715	DES	c.414C>A (p.Ala138=)	gnomAD v4
2	g.219418876C=	CA1329210055	DES	c.414C= (p.Ala138=)
2	g.219418876C>G	CA431427711	DES	c.414C>G (p.Ala138=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418876C>T	CA431427709	DES	c.414C>T (p.Ala138=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418877G>A	CA16610612	DES	c.415G>A (p.Glu139Lys)	ClinVar dbSNP gnomAD v4
2	g.219418877G>C	CA2125066	DES	c.415G>C (p.Glu139Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418877G=	CA1329210056	DES	c.415G= (p.Glu139=)
2	g.219418877G>T	CA350686002	DES	c.415G>T (p.Glu139Ter)
2	g.219418878A>C	CA350686009	DES	c.416A>C (p.Glu139Ala)
2	g.219418878A>G	CA350686012	DES	c.416A>G (p.Glu139Gly)
2	g.219418878A>T	CA350686015	DES	c.416A>T (p.Glu139Val)	gnomAD v4
2	g.219418879A=	CA1329210057	DES	c.417A= (p.Glu139=)
2	g.219418879A>C	CA350686018	DES	c.417A>C (p.Glu139Asp)
2	g.219418879A>G	CA431427720	DES	c.417A>G (p.Glu139=)	dbSNP gnomAD v4
2	g.219418879A>T	CA350686021	DES	c.417A>T (p.Glu139Asp)
2	g.219418880G>A	CA350686024	DES	c.418G>A (p.Val140Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418880G>C	CA350686027	DES	c.418G>C (p.Val140Leu)	ClinVar dbSNP
2	g.219418880G=	CA1329210058	DES	c.418G= (p.Val140=)
2	g.219418880G>T	CA350686030	DES	c.418G>T (p.Val140Leu)
2	g.219418881T>A	CA350686032	DES	c.419T>A (p.Val140Glu)
2	g.219418881T>C	CA350686034	DES	c.419T>C (p.Val140Ala)	gnomAD v4
2	g.219418881T>G	CA350686037	DES	c.419T>G (p.Val140Gly)
2	g.219418882G>A	CA431427727	DES	c.420G>A (p.Val140=)
2	g.219418882G>C	CA431427728	DES	c.420G>C (p.Val140=)	dbSNP
2	g.219418882G=	CA1329210059	DES	c.420G= (p.Val140=)
2	g.219418882G>T	CA431427729	DES	c.420G>T (p.Val140=)	gnomAD v4
2	g.219418883A>C	CA350686039	DES	c.421A>C (p.Asn141His)
2	g.219418883A>G	CA350686045	DES	c.421A>G (p.Asn141Asp)
2	g.219418883A>T	CA350686041	DES	c.421A>T (p.Asn141Tyr)
2	g.219418884A>C	CA350686048	DES	c.422A>C (p.Asn141Thr)
2	g.219418884A>G	CA350686050	DES	c.422A>G (p.Asn141Ser)
2	g.219418884A>T	CA350686053	DES	c.422A>T (p.Asn141Ile)
2	g.219418885C>A	CA350686055	DES	c.423C>A (p.Asn141Lys)	gnomAD v4
2	g.219418885C=	CA1329210060	DES	c.423C= (p.Asn141=)
2	g.219418885C>G	CA350686059	DES	c.423C>G (p.Asn141Lys)	dbSNP
2	g.219418885C>T	CA431427741	DES	c.423C>T (p.Asn141=)	ClinVar dbSNP gnomAD v4
2	g.219418886C>A	CA431427744	DES	c.424C>A (p.Arg142=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418886C=	CA1329210061	DES	c.424C= (p.Arg142=)
2	g.219418886C>G	CA350686062	DES	c.424C>G (p.Arg142Gly)	gnomAD v4
2	g.219418886C>T	CA350686066	DES	c.424C>T (p.Arg142Trp)	gnomAD v4
2	g.219418887G>A	CA350686069	DES	c.425G>A (p.Arg142Gln)	dbSNP gnomAD v4
2	g.219418887G>C	CA350686075	DES	c.425G>C (p.Arg142Pro)	ClinVar
2	g.219418887G=	CA1329210062	DES	c.425G= (p.Arg142=)
2	g.219418887G>T	CA350686077	DES	c.425G>T (p.Arg142Leu)	gnomAD v4
2	g.219418888G>A	CA431427756	DES	c.426G>A (p.Arg142=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418888G>C	CA431427757	DES	c.426G>C (p.Arg142=)
2	g.219418888G=	CA1329210063	DES	c.426G= (p.Arg142=)
2	g.219418888G>T	CA431427758	DES	c.426G>T (p.Arg142=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418889C>A	CA350686085	DES	c.427C>A (p.Leu143Ile)	gnomAD v4
2	g.219418889C=	CA1329210064	DES	c.427C= (p.Leu143=)
2	g.219418889C>G	CA350686082	DES	c.427C>G (p.Leu143Val)	ClinVar dbSNP
2	g.219418889C>T	CA350686080	DES	c.427C>T (p.Leu143Phe)	gnomAD v4
2	g.219418890T>A	CA350686087	DES	c.428T>A (p.Leu143His)
2	g.219418890T>C	CA350686089	DES	c.428T>C (p.Leu143Pro)	ClinVar dbSNP
2	g.219418890T>G	CA350686092	DES	c.428T>G (p.Leu143Arg)	ClinVar
2	g.219418890T=	CA1329210065	DES	c.428T= (p.Leu143=)
2	g.219418891C>A	CA431427762	DES	c.429C>A (p.Leu143=)
2	g.219418891C=	CA1329210066	DES	c.429C= (p.Leu143=)
2	g.219418891C>G	CA431427763	DES	c.429C>G (p.Leu143=)
2	g.219418891C>T	CA65981248	DES	c.429C>T (p.Leu143=)	ClinVar dbSNP gnomAD v4
2	g.219418892A=	CA1329210067	DES	c.430A= (p.Lys144=)
2	g.219418892A>C	CA350686101	DES	c.430A>C (p.Lys144Gln)
2	g.219418892A>G	CA350686106	DES	c.430A>G (p.Lys144Glu)	gnomAD v4
2	g.219418892A>T	CA350686110	DES	c.430A>T (p.Lys144Ter)	dbSNP
2	g.219418893A>C	CA350686114	DES	c.431A>C (p.Lys144Thr)
2	g.219418893A>G	CA350686117	DES	c.431A>G (p.Lys144Arg)	gnomAD v4
2	g.219418893A>T	CA350686122	DES	c.431A>T (p.Lys144Met)
2	g.219418895_219418913del	CA2754326441	DES	c.433_451del (p.Gly145TrpfsTer?)
2	g.219418894G>A	CA431427769	DES	c.432G>A (p.Lys144=)	gnomAD v4
2	g.219418894G>C	CA350686144	DES	c.432G>C (p.Lys144Asn)
2	g.219418894G>T	CA350686147	DES	c.432G>T (p.Lys144Asn)	gnomAD v4
2	g.219418896dup	CA2663250194	DES	c.434dup (p.Arg146ProfsTer26) c.434dup (p.Arg146ProfsTer?)	gnomAD v4
2	g.219418895G>A	CA350686158	DES	c.433G>A (p.Gly145Ser)
2	g.219418895G>C	CA350686160	DES	c.433G>C (p.Gly145Arg)
2	g.219418895G>T	CA350686153	DES	c.433G>T (p.Gly145Cys)
2	g.219418896G>A	CA350686173	DES	c.434G>A (p.Gly145Asp)	ClinVar dbSNP gnomAD v4
2	g.219418896G>C	CA350686166	DES	c.434G>C (p.Gly145Ala)	dbSNP
2	g.219418896G=	CA1329210068	DES	c.434G= (p.Gly145=)
2	g.219418896G>T	CA350686169	DES	c.434G>T (p.Gly145Val)
2	g.219418897C>A	CA431427776	DES	c.435C>A (p.Gly145=)	ClinVar
2	g.219418897C=	CA1329210069	DES	c.435C= (p.Gly145=)
2	g.219418897C>G	CA431427777	DES	c.435C>G (p.Gly145=)
2	g.219418897C>T	CA431427778	DES	c.435C>T (p.Gly145=)	ClinVar dbSNP gnomAD v4
2	g.219418898C>A	CA350686178	DES	c.436C>A (p.Arg146Ser)	gnomAD v4
2	g.219418898C>G	CA350686181	DES	c.436C>G (p.Arg146Gly)	ClinVar gnomAD v4
2	g.219418898C>T	CA350686195	DES	c.436C>T (p.Arg146Cys)	dbSNP gnomAD v4 COSMIC
2	g.219418898_219418900delinsTGG	CA2586971378	DES	c.436_438delinsTGG (p.Arg146Trp)
2	g.219418899G>A	CA350686197	DES	c.437G>A (p.Arg146His)	gnomAD v4
2	g.219418899G>C	CA350686198	DES	c.437G>C (p.Arg146Pro)
2	g.219418899G>T	CA350686200	DES	c.437G>T (p.Arg146Leu)	gnomAD v4
2	g.219418900C>A	CA431427788	DES	c.438C>A (p.Arg146=)	gnomAD v4
2	g.219418900C=	CA1329210070	DES	c.438C= (p.Arg146=)
2	g.219418900C>G	CA2125067	DES	c.438C>G (p.Arg146=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418900C>T	CA2125068	DES	c.438C>T (p.Arg146=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418901G>A	CA350686210	DES	c.439G>A (p.Glu147Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418901G>C	CA350686214	DES	c.439G>C (p.Glu147Gln)	ClinVar gnomAD v4
2	g.219418901G=	CA1329210071	DES	c.439G= (p.Glu147=)
2	g.219418901G>T	CA350686216	DES	c.439G>T (p.Glu147Ter)	gnomAD v4
2	g.219418902A>C	CA350686226	DES	c.440A>C (p.Glu147Ala)
2	g.219418902A>G	CA350686220	DES	c.440A>G (p.Glu147Gly)
2	g.219418902A>T	CA350686223	DES	c.440A>T (p.Glu147Val)
2	g.219418903G>A	CA431427794	DES	c.441G>A (p.Glu147=)	dbSNP gnomAD v4
2	g.219418903G>C	CA350686229	DES	c.441G>C (p.Glu147Asp)
2	g.219418903G=	CA1329210072	DES	c.441G= (p.Glu147=)
2	g.219418903G>T	CA350686231	DES	c.441G>T (p.Glu147Asp)
2	g.219418904C>A	CA350686235	DES	c.442C>A (p.Pro148Thr)	gnomAD v4
2	g.219418904C>G	CA350686238	DES	c.442C>G (p.Pro148Ala)
2	g.219418904C>T	CA350686241	DES	c.442C>T (p.Pro148Ser)	gnomAD v4
2	g.219418905C>A	CA350686246	DES	c.443C>A (p.Pro148Gln)	gnomAD v4
2	g.219418905C=	CA1329210073	DES	c.443C= (p.Pro148=)
2	g.219418905C>G	CA350686250	DES	c.443C>G (p.Pro148Arg)
2	g.219418905C>T	CA65981255	DES	c.443C>T (p.Pro148Leu)	dbSNP gnomAD v4
2	g.219418906G>A	CA431427798	DES	c.444G>A (p.Pro148=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418906G>C	CA2125069	DES	c.444G>C (p.Pro148=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418906G=	CA1329210074	DES	c.444G= (p.Pro148=)
2	g.219418906G>T	CA431427800	DES	c.444G>T (p.Pro148=)	dbSNP gnomAD v4
2	g.219418907A=	CA1329210075	DES	c.445A= (p.Thr149=)
2	g.219418907A>C	CA350686261	DES	c.445A>C (p.Thr149Pro)
2	g.219418907A>G	CA350686265	DES	c.445A>G (p.Thr149Ala)
2	g.219418907A>T	CA350686269	DES	c.445A>T (p.Thr149Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219418908C>A	CA350686281	DES	c.446C>A (p.Thr149Lys)
2	g.219418908C=	CA1329210076	DES	c.446C= (p.Thr149=)
2	g.219418908C>G	CA350686276	DES	c.446C>G (p.Thr149Arg)	ClinVar gnomAD v4
2	g.219418908C>T	CA350686272	DES	c.446C>T (p.Thr149Met)	dbSNP gnomAD v3 gnomAD v4
2	g.219418909G>A	CA431427807	DES	c.447G>A (p.Thr149=)	ClinVar gnomAD v4
2	g.219418909G>C	CA431427806	DES	c.447G>C (p.Thr149=)	ClinVar dbSNP
2	g.219418909G=	CA1329210077	DES	c.447G= (p.Thr149=)
2	g.219418909G>T	CA431427805	DES	c.447G>T (p.Thr149=)	dbSNP gnomAD v4
2	g.219418910C>A	CA431427808	DES	c.448C>A (p.Arg150=)	gnomAD v4
2	g.219418910C>G	CA350686287	DES	c.448C>G (p.Arg150Gly)
2	g.219418910C>T	CA350686291	DES	c.448C>T (p.Arg150Ter)
2	g.219418914_219418921del	CA2499215677	DES	c.452_459del (p.Val151AlafsTer18) c.452_459del (p.Val151AlafsTer24)	ClinVar dbSNP
2	g.219418911G>A	CA10581142	DES	c.449G>A (p.Arg150Gln)	ClinVar dbSNP gnomAD v4
2	g.219418911G>C	CA350686296	DES	c.449G>C (p.Arg150Pro)	gnomAD v4
2	g.219418911G=	CA1329210078	DES	c.449G= (p.Arg150=)
2	g.219418911G>T	CA350686298	DES	c.449G>T (p.Arg150Leu)	gnomAD v4
2	g.219418912A=	CA1329210079	DES	c.450A= (p.Arg150=)
2	g.219418912A>C	CA431427814	DES	c.450A>C (p.Arg150=)	ClinVar dbSNP
2	g.219418912A>G	CA431427817	DES	c.450A>G (p.Arg150=)	dbSNP
2	g.219418912A>T	CA431427815	DES	c.450A>T (p.Arg150=)
2	g.219418913G>A	CA350686307	DES	c.451G>A (p.Val151Met)	gnomAD v4
2	g.219418913G>C	CA350686303	DES	c.451G>C (p.Val151Leu)
2	g.219418913G>T	CA350686300	DES	c.451G>T (p.Val151Leu)
2	g.219418914T>A	CA350686313	DES	c.452T>A (p.Val151Glu)
2	g.219418914T>C	CA350686316	DES	c.452T>C (p.Val151Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.219418914T>G	CA350686321	DES	c.452T>G (p.Val151Gly)
2	g.219418914T=	CA1329210080	DES	c.452T= (p.Val151=)
2	g.219418915G>A	CA431427820	DES	c.453G>A (p.Val151=)	gnomAD v4
2	g.219418915G>C	CA431427821	DES	c.453G>C (p.Val151=)	dbSNP
2	g.219418915G=	CA1329210081	DES	c.453G= (p.Val151=)
2	g.219418915G>T	CA431427823	DES	c.453G>T (p.Val151=)	dbSNP gnomAD v4
2	g.219418916G>A	CA350686326	DES	c.454G>A (p.Ala152Thr)
2	g.219418916G>C	CA350686330	DES	c.454G>C (p.Ala152Pro)
2	g.219418916G>T	CA350686334	DES	c.454G>T (p.Ala152Ser)
2	g.219418917C>A	CA350686338	DES	c.455C>A (p.Ala152Asp)
2	g.219418917C>G	CA350686348	DES	c.455C>G (p.Ala152Gly)
2	g.219418917C>T	CA350686345	DES	c.455C>T (p.Ala152Val)	gnomAD v4
2	g.219418918C>A	CA431427826	DES	c.456C>A (p.Ala152=)	gnomAD v4
2	g.219418918C=	CA1329210082	DES	c.456C= (p.Ala152=)
2	g.219418918C>G	CA431427827	DES	c.456C>G (p.Ala152=)	ClinVar gnomAD v4
2	g.219418918C>T	CA431427828	DES	c.456C>T (p.Ala152=)	ClinVar dbSNP gnomAD v4
2	g.219418919G>A	CA350686355	DES	c.457G>A (p.Glu153Lys)	dbSNP gnomAD v4
2	g.219418919G>C	CA350686358	DES	c.457G>C (p.Glu153Gln)
2	g.219418919G=	CA1329210083	DES	c.457G= (p.Glu153=)
2	g.219418919G>T	CA350686363	DES	c.457G>T (p.Glu153Ter)	gnomAD v4
2	g.219418920A>C	CA350686367	DES	c.458A>C (p.Glu153Ala)
2	g.219418920A>G	CA350686370	DES	c.458A>G (p.Glu153Gly)	ClinVar gnomAD v4
2	g.219418920A>T	CA350686373	DES	c.458A>T (p.Glu153Val)
2	g.219418921G>A	CA431427834	DES	c.459G>A (p.Glu153=)
2	g.219418921G>C	CA350686378	DES	c.459G>C (p.Glu153Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418921G=	CA1329210084	DES	c.459G= (p.Glu153=)
2	g.219418921G>T	CA350686382	DES	c.459G>T (p.Glu153Asp)	gnomAD v4 COSMIC
2	g.219418922C>A	CA2125070	DES	c.460C>A (p.Leu154Ile)	ClinVar dbSNP ExAC gnomAD v4
2	g.219418922C=	CA1329210085	DES	c.460C= (p.Leu154=)
2	g.219418922C>G	CA350686390	DES	c.460C>G (p.Leu154Val)
2	g.219418922C>T	CA350686394	DES	c.460C>T (p.Leu154Phe)	dbSNP gnomAD v2 gnomAD v4
2	g.219418923T>A	CA2125071	DES	c.461T>A (p.Leu154His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418923T>C	CA350686407	DES	c.461T>C (p.Leu154Pro)	ClinVar gnomAD v4
2	g.219418923T>G	CA350686402	DES	c.461T>G (p.Leu154Arg)
2	g.219418923T=	CA1329210086	DES	c.461T= (p.Leu154=)
2	g.219418924C>A	CA431427841	DES	c.462C>A (p.Leu154=)	gnomAD v4
2	g.219418924C=	CA1329210087	DES	c.462C= (p.Leu154=)
2	g.219418924C>G	CA431427842	DES	c.462C>G (p.Leu154=)	gnomAD v4
2	g.219418924C>T	CA431427843	DES	c.462C>T (p.Leu154=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418925T>A	CA350686415	DES	c.463T>A (p.Tyr155Asn)
2	g.219418925T>C	CA350686422	DES	c.463T>C (p.Tyr155His)
2	g.219418925T>G	CA350686418	DES	c.463T>G (p.Tyr155Asp)
2	g.219418926A>C	CA350686426	DES	c.464A>C (p.Tyr155Ser)
2	g.219418926A>G	CA350686435	DES	c.464A>G (p.Tyr155Cys)
2	g.219418926A>T	CA350686429	DES	c.464A>T (p.Tyr155Phe)
2	g.219418927C>A	CA350686441	DES	c.465C>A (p.Tyr155Ter)	dbSNP gnomAD v4
2	g.219418927C=	CA1329210088	DES	c.465C= (p.Tyr155=)
2	g.219418927C>G	CA350686447	DES	c.465C>G (p.Tyr155Ter)
2	g.219418927C>T	CA431427848	DES	c.465C>T (p.Tyr155=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219418927_219418930delinsCGAG	CA1329210089	DES	c.465_468delinsCGAG (p.Tyr155=)
2	g.219418928G>A	CA2125072	DES	c.466G>A (p.Glu156Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418928G>C	CA350686456	DES	c.466G>C (p.Glu156Gln)	ClinVar dbSNP
2	g.219418928G=	CA1329210091	DES	c.466G= (p.Glu156=)
2	g.219418928G>T	CA350686459	DES	c.466G>T (p.Glu156Ter)
2	g.219418934_219418936del	CA1329210090	DES	c.472_474del (p.Glu158del)	ClinVar dbSNP
2	g.219418929A>C	CA350686464	DES	c.467A>C (p.Glu156Ala)
2	g.219418929A>G	CA350686471	DES	c.467A>G (p.Glu156Gly)	gnomAD v4
2	g.219418929A>T	CA350686474	DES	c.467A>T (p.Glu156Val)	ClinVar dbSNP
2	g.219418930G>A	CA431427851	DES	c.468G>A (p.Glu156=)
2	g.219418930G>C	CA350686481	DES	c.468G>C (p.Glu156Asp)
2	g.219418930G>T	CA350686482	DES	c.468G>T (p.Glu156Asp)
2	g.219418931G>A	CA350686483	DES	c.469G>A (p.Glu157Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418931G>C	CA350686485	DES	c.469G>C (p.Glu157Gln)
2	g.219418931G=	CA1329210092	DES	c.469G= (p.Glu157=)
2	g.219418931G>T	CA350686490	DES	c.469G>T (p.Glu157Ter)
2	g.219418932A>C	CA350686504	DES	c.470A>C (p.Glu157Ala)
2	g.219418932A>G	CA350686502	DES	c.470A>G (p.Glu157Gly)
2	g.219418932A>T	CA350686497	DES	c.470A>T (p.Glu157Val)
2	g.219418933G>A	CA431427856	DES	c.471G>A (p.Glu157=)
2	g.219418933G>C	CA350686507	DES	c.471G>C (p.Glu157Asp)
2	g.219418933G>T	CA350686510	DES	c.471G>T (p.Glu157Asp)
2	g.219418943_219418951dup	CA2577252530	DES	c.481_489dup (p.Arg163_Arg164insGluLeuArg)	ClinVar
2	g.219418934G>A	CA350686516	DES	c.472G>A (p.Glu158Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.219418934G>C	CA350686517	DES	c.472G>C (p.Glu158Gln)
2	g.219418934G=	CA1329210093	DES	c.472G= (p.Glu158=)
2	g.219418934G>T	CA350686524	DES	c.472G>T (p.Glu158Ter)
2	g.219418935A=	CA1329210094	DES	c.473A= (p.Glu158=)
2	g.219418935A>C	CA350686530	DES	c.473A>C (p.Glu158Ala)
2	g.219418935A>G	CA350686535	DES	c.473A>G (p.Glu158Gly)	gnomAD v4
2	g.219418935A>T	CA350686538	DES	c.473A>T (p.Glu158Val)	ClinVar dbSNP
2	g.219418936G>A	CA431427858	DES	c.474G>A (p.Glu158=)	gnomAD v4
2	g.219418936G>C	CA350686540	DES	c.474G>C (p.Glu158Asp)
2	g.219418936G>T	CA350686543	DES	c.474G>T (p.Glu158Asp)	gnomAD v4
2	g.219418937C>A	CA350686545	DES	c.475C>A (p.Leu159Met)	dbSNP gnomAD v4
2	g.219418937C=	CA1329210095	DES	c.475C= (p.Leu159=)
2	g.219418937C>G	CA350686549	DES	c.475C>G (p.Leu159Val)
2	g.219418937C>T	CA431427860	DES	c.475C>T (p.Leu159=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418938T>A	CA350686554	DES	c.476T>A (p.Leu159Gln)
2	g.219418938T>C	CA350686551	DES	c.476T>C (p.Leu159Pro)	ClinVar dbSNP gnomAD v4
2	g.219418938T>G	CA350686550	DES	c.476T>G (p.Leu159Arg)
2	g.219418938T=	CA1329210096	DES	c.476T= (p.Leu159=)
2	g.219418939G>A	CA431427865	DES	c.477G>A (p.Leu159=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418939G>C	CA431427866	DES	c.477G>C (p.Leu159=)
2	g.219418939G=	CA1329210097	DES	c.477G= (p.Leu159=)
2	g.219418939G>T	CA431427867	DES	c.477G>T (p.Leu159=)	gnomAD v4
2	g.219418940C>A	CA431427868	DES	c.478C>A (p.Arg160=)	gnomAD v4
2	g.219418940C=	CA1329210098	DES	c.478C= (p.Arg160=)
2	g.219418940C>G	CA350686556	DES	c.478C>G (p.Arg160Gly)
2	g.219418940C>T	CA350686558	DES	c.478C>T (p.Arg160Trp)	dbSNP gnomAD v2 gnomAD v4
2	g.219418941G>A	CA350686563	DES	c.479G>A (p.Arg160Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219418941G>C	CA350686566	DES	c.479G>C (p.Arg160Pro)	gnomAD v4
2	g.219418941G=	CA1329210099	DES	c.479G= (p.Arg160=)
2	g.219418941G>T	CA350686567	DES	c.479G>T (p.Arg160Leu)
2	g.219418942G>A	CA431427877	DES	c.480G>A (p.Arg160=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418942G>C	CA431427875	DES	c.480G>C (p.Arg160=)	ClinVar dbSNP
2	g.219418942G=	CA1329210100	DES	c.480G= (p.Arg160=)
2	g.219418942G>T	CA431427876	DES	c.480G>T (p.Arg160=)	gnomAD v4
2	g.219418943G>A	CA350686570	DES	c.481G>A (p.Glu161Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.219418943G>C	CA350686571	DES	c.481G>C (p.Glu161Gln)
2	g.219418943G=	CA1329210101	DES	c.481G= (p.Glu161=)
2	g.219418943G>T	CA350686573	DES	c.481G>T (p.Glu161Ter)	gnomAD v4
2	g.219418944A=	CA1329210102	DES	c.482A= (p.Glu161=)
2	g.219418944A>C	CA350686574	DES	c.482A>C (p.Glu161Ala)	gnomAD v4
2	g.219418944A>G	CA350686579	DES	c.482A>G (p.Glu161Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418944A>T	CA350686581	DES	c.482A>T (p.Glu161Val)
2	g.219418944_219418952dup	CA2580065786	DES	c.482_490dup (p.Arg163_Arg164insGlnLeuArg)	ClinVar
2	g.219418945G>A	CA431427879	DES	c.483G>A (p.Glu161=)
2	g.219418945G>C	CA350686583	DES	c.483G>C (p.Glu161Asp)	ClinVar
2	g.219418945G>T	CA350686585	DES	c.483G>T (p.Glu161Asp)	gnomAD v4
2	g.219418946C>A	CA350686589	DES	c.484C>A (p.Leu162Met)	gnomAD v4
2	g.219418946C=	CA1329210103	DES	c.484C= (p.Leu162=)
2	g.219418946C>G	CA350686591	DES	c.484C>G (p.Leu162Val)
2	g.219418946C>T	CA431427883	DES	c.484C>T (p.Leu162=)	gnomAD v4
2	g.219418947T>A	CA350686594	DES	c.485T>A (p.Leu162Gln)
2	g.219418947T>C	CA350686595	DES	c.485T>C (p.Leu162Pro)	gnomAD v4
2	g.219418947T>G	CA350686598	DES	c.485T>G (p.Leu162Arg)	dbSNP
2	g.219418947T=	CA1329210104	DES	c.485T= (p.Leu162=)
2	g.219418950_219418967dup	CA916081390	DES	c.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal) c.488_495+10dup	ClinVar dbSNP
2	g.219418948G>A	CA431427886	DES	c.486G>A (p.Leu162=)
2	g.219418948G>C	CA431427884	DES	c.486G>C (p.Leu162=)
2	g.219418948G>T	CA431427885	DES	c.486G>T (p.Leu162=)	gnomAD v4
2	g.219418949C>A	CA431427887	DES	c.487C>A (p.Arg163=)	gnomAD v4
2	g.219418949C>G	CA350686602	DES	c.487C>G (p.Arg163Gly)
2	g.219418949C>T	CA350686603	DES	c.487C>T (p.Arg163Trp)	gnomAD v4
2	g.219418950G>A	CA350686609	DES	c.488G>A (p.Arg163Gln)	ClinVar dbSNP
2	g.219418950G>C	CA350686610	DES	c.488G>C (p.Arg163Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418950G=	CA1329210105	DES	c.488G= (p.Arg163=)
2	g.219418950G>T	CA350686614	DES	c.488G>T (p.Arg163Leu)	gnomAD v4
2	g.219418951G>A	CA431427890	DES	c.489G>A (p.Arg163=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418951G>C	CA431427891	DES	c.489G>C (p.Arg163=)
2	g.219418951G=	CA1329210106	DES	c.489G= (p.Arg163=)
2	g.219418951G>T	CA431427892	DES	c.489G>T (p.Arg163=)
2	g.219418952C>A	CA350686616	DES	c.490C>A (p.Arg164Ser)	ClinVar gnomAD v4
2	g.219418952C>G	CA350686619	DES	c.490C>G (p.Arg164Gly)
2	g.219418952C>T	CA350686622	DES	c.490C>T (p.Arg164Cys)	gnomAD v4
2	g.219418953G>A	CA350686630	DES	c.491G>A (p.Arg164His)	dbSNP gnomAD v4
2	g.219418953G>C	CA350686627	DES	c.491G>C (p.Arg164Pro)
2	g.219418953G=	CA1329210107	DES	c.491G= (p.Arg164=)
2	g.219418953G>T	CA350686626	DES	c.491G>T (p.Arg164Leu)	gnomAD v4
2	g.219418954C>A	CA431427893	DES	c.492C>A (p.Arg164=)	gnomAD v4
2	g.219418954C=	CA1329210108	DES	c.492C= (p.Arg164=)
2	g.219418954C>G	CA431427894	DES	c.492C>G (p.Arg164=)
2	g.219418954C>T	CA431427895	DES	c.492C>T (p.Arg164=)	dbSNP gnomAD v2
2	g.219418954_219418982delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG	CA1329210109	DES	c.492_520delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG (p.Arg164=) c.492_495+25delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG
2	g.219418955C>A	CA350686632	DES	c.493C>A (p.Gln165Lys)
2	g.219418955C>G	CA350686644	DES	c.493C>G (p.Gln165Glu)
2	g.219418955C>T	CA350686641	DES	c.493C>T (p.Gln165Ter)	gnomAD v4
2	g.219418955_219418982delinsGCGT	CA645369281	DES	c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) c.493_495+25delinsGCGT	ClinVar dbSNP
2	g.219418956A=	CA1329210110	DES	c.494A= (p.Gln165=)
2	g.219418956A>C	CA350686646	DES	c.494A>C (p.Gln165Pro)
2	g.219418956A>G	CA350686649	DES	c.494A>G (p.Gln165Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418956A>T	CA350686652	DES	c.494A>T (p.Gln165Leu)

Number of alleles fetched