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

Number of alleles fetched