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.219418756C>A	CA350684967	DES	c.294C>A (p.Asn98Lys)
2	g.219418756C=	CA1329209976	DES	c.294C= (p.Asn98=)
2	g.219418756C>G	CA350684971	DES	c.294C>G (p.Asn98Lys)
2	g.219418756C>T	CA431427458	DES	c.294C>T (p.Asn98=)	ClinVar dbSNP gnomAD v4
2	g.219418757C>A	CA350684976	DES	c.295C>A (p.Gln99Lys)	gnomAD v4
2	g.219418757C=	CA1329209977	DES	c.295C= (p.Gln99=)
2	g.219418757C>G	CA308304	DES	c.295C>G (p.Gln99Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418757C>T	CA350684982	DES	c.295C>T (p.Gln99Ter)
2	g.219418758A>C	CA350684988	DES	c.296A>C (p.Gln99Pro)
2	g.219418758A>G	CA350684991	DES	c.296A>G (p.Gln99Arg)
2	g.219418758A>T	CA350685000	DES	c.296A>T (p.Gln99Leu)
2	g.219418759G>A	CA431427461	DES	c.297G>A (p.Gln99=)
2	g.219418759G>C	CA350685006	DES	c.297G>C (p.Gln99His)
2	g.219418759G>T	CA350685009	DES	c.297G>T (p.Gln99His)	gnomAD v4
2	g.219418760G>A	CA350685014	DES	c.298G>A (p.Glu100Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418760G>C	CA350685017	DES	c.298G>C (p.Glu100Gln)	gnomAD v4
2	g.219418760G=	CA1329209978	DES	c.298G= (p.Glu100=)
2	g.219418760G>T	CA350685013	DES	c.298G>T (p.Glu100Ter)
2	g.219418761A=	CA1329209979	DES	c.299A= (p.Glu100=)
2	g.219418761A>C	CA308307	DES	c.299A>C (p.Glu100Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418761A>G	CA350685021	DES	c.299A>G (p.Glu100Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418761A>T	CA350685024	DES	c.299A>T (p.Glu100Val)
2	g.219418762G>A	CA431427465	DES	c.300G>A (p.Glu100=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418762G>C	CA350685030	DES	c.300G>C (p.Glu100Asp)
2	g.219418762G=	CA1329209980	DES	c.300G= (p.Glu100=)
2	g.219418762G>T	CA350685036	DES	c.300G>T (p.Glu100Asp)	gnomAD v4
2	g.219418762dup	CA2580065780	DES	c.300dup (p.Phe101ValfsTer17)	ClinVar
2	g.219418763T>A	CA350685046	DES	c.301T>A (p.Phe101Ile)
2	g.219418763T>C	CA350685050	DES	c.301T>C (p.Phe101Leu)
2	g.219418763T>G	CA350685056	DES	c.301T>G (p.Phe101Val)
2	g.219418764T>A	CA350685063	DES	c.302T>A (p.Phe101Tyr)
2	g.219418764T>C	CA350685069	DES	c.302T>C (p.Phe101Ser)
2	g.219418764T>G	CA350685067	DES	c.302T>G (p.Phe101Cys)
2	g.219418765T>A	CA350685072	DES	c.303T>A (p.Phe101Leu)
2	g.219418765T>C	CA431427467	DES	c.303T>C (p.Phe101=)	ClinVar dbSNP
2	g.219418765T>G	CA350685074	DES	c.303T>G (p.Phe101Leu)
2	g.219418766C>A	CA350685079	DES	c.304C>A (p.Leu102Met)	gnomAD v4
2	g.219418766C>G	CA350685082	DES	c.304C>G (p.Leu102Val)
2	g.219418766C>T	CA431427468	DES	c.304C>T (p.Leu102=)	gnomAD v4
2	g.219418767T>A	CA350685091	DES	c.305T>A (p.Leu102Gln)
2	g.219418767T>C	CA350685096	DES	c.305T>C (p.Leu102Pro)
2	g.219418767T>G	CA350685095	DES	c.305T>G (p.Leu102Arg)
2	g.219418768G>A	CA431427471	DES	c.306G>A (p.Leu102=)	ClinVar dbSNP gnomAD v4
2	g.219418768G>C	CA431427473	DES	c.306G>C (p.Leu102=)
2	g.219418768G>T	CA431427475	DES	c.306G>T (p.Leu102=)	gnomAD v4
2	g.219418769A=	CA1329209981	DES	c.307A= (p.Thr103=)
2	g.219418769A>C	CA350685099	DES	c.307A>C (p.Thr103Pro)
2	g.219418769A>G	CA350685107	DES	c.307A>G (p.Thr103Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.219418769A>T	CA350685111	DES	c.307A>T (p.Thr103Ser)

Number of alleles fetched