Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.67436591C>A	CA396281568	HSD11B2	c.806C>A (p.Ser269Ter)	gnomAD v4
16	g.67436591C>G	CA396281571	HSD11B2	c.806C>G (p.Ser269Ter)
16	g.67436591C>T	CA396281575	HSD11B2	c.806C>T (p.Ser269Leu)
16	g.67436592A>C	CA496082962	HSD11B2	c.807A>C (p.Ser269=)
16	g.67436592A>G	CA496082963	HSD11B2	c.807A>G (p.Ser269=)
16	g.67436592A>T	CA496082964	HSD11B2	c.807A>T (p.Ser269=)
16	g.67436593G>A	CA396281579	HSD11B2	c.808G>A (p.Val270Met)	gnomAD v4
16	g.67436593G>C	CA396281581	HSD11B2	c.808G>C (p.Val270Leu)
16	g.67436593G>T	CA396281583	HSD11B2	c.808G>T (p.Val270Leu)
16	g.67436594T>A	CA396281596	HSD11B2	c.809T>A (p.Val270Glu)
16	g.67436594T>C	CA396281594	HSD11B2	c.809T>C (p.Val270Ala)
16	g.67436594T>G	CA396281588	HSD11B2	c.809T>G (p.Val270Gly)	gnomAD v4
16	g.67436595G>A	CA8110758	HSD11B2	c.810G>A (p.Val270=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436595G>C	CA496082966	HSD11B2	c.810G>C (p.Val270=)
16	g.67436595G=	CA2229310363	HSD11B2	c.810G= (p.Val270=)
16	g.67436595G>T	CA496082965	HSD11B2	c.810G>T (p.Val270=)
16	g.67436596A>C	CA496082967	HSD11B2	c.811A>C (p.Arg271=)
16	g.67436596A>G	CA396281601	HSD11B2	c.811A>G (p.Arg271Gly)
16	g.67436596A>T	CA396281604	HSD11B2	c.811A>T (p.Arg271Ter)
16	g.67436597G>A	CA396281609	HSD11B2	c.812G>A (p.Arg271Lys)
16	g.67436597G>C	CA396281611	HSD11B2	c.812G>C (p.Arg271Thr)
16	g.67436597G>T	CA396281613	HSD11B2	c.812G>T (p.Arg271Ile)
16	g.67436598A>C	CA396281620	HSD11B2	c.813A>C (p.Arg271Ser)	gnomAD v4
16	g.67436598A>G	CA496082968	HSD11B2	c.813A>G (p.Arg271=)
16	g.67436598A>T	CA396281616	HSD11B2	c.813A>T (p.Arg271Ser)
16	g.67436599A>C	CA396281622	HSD11B2	c.814A>C (p.Asn272His)
16	g.67436599A>G	CA396281625	HSD11B2	c.814A>G (p.Asn272Asp)
16	g.67436599A>T	CA396281626	HSD11B2	c.814A>T (p.Asn272Tyr)
16	g.67436600A>C	CA396281631	HSD11B2	c.815A>C (p.Asn272Thr)
16	g.67436600A>G	CA396281634	HSD11B2	c.815A>G (p.Asn272Ser)
16	g.67436600A>T	CA396281637	HSD11B2	c.815A>T (p.Asn272Ile)
16	g.67436601C>A	CA396281642	HSD11B2	c.816C>A (p.Asn272Lys)
16	g.67436601C=	CA2229310366	HSD11B2	c.816C= (p.Asn272=)
16	g.67436601C>G	CA396281646	HSD11B2	c.816C>G (p.Asn272Lys)	gnomAD v4
16	g.67436601C>T	CA8110759	HSD11B2	c.816C>T (p.Asn272=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436602G>A	CA8110760	HSD11B2	c.817G>A (p.Val273Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436602G>C	CA396281650	HSD11B2	c.817G>C (p.Val273Leu)
16	g.67436602G=	CA2229310369	HSD11B2	c.817G= (p.Val273=)
16	g.67436602G>T	CA396281652	HSD11B2	c.817G>T (p.Val273Leu)
16	g.67436603T>A	CA396281656	HSD11B2	c.818T>A (p.Val273Glu)
16	g.67436603T>C	CA282323151	HSD11B2	c.818T>C (p.Val273Ala)	dbSNP
16	g.67436603T>G	CA396281658	HSD11B2	c.818T>G (p.Val273Gly)
16	g.67436603T=	CA2229310374	HSD11B2	c.818T= (p.Val273=)
16	g.67436603dup	CA8110761	HSD11B2	c.818dup (p.Gln275SerfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436604G>A	CA496082969	HSD11B2	c.819G>A (p.Val273=)
16	g.67436604G>C	CA496082970	HSD11B2	c.819G>C (p.Val273=)
16	g.67436604G=	CA2229310376	HSD11B2	c.819G= (p.Val273=)
16	g.67436604G>T	CA496082971	HSD11B2	c.819G>T (p.Val273=)	dbSNP gnomAD v2 COSMIC
16	g.67436605G>A	CA396281660	HSD11B2	c.820G>A (p.Gly274Ser)
16	g.67436605G>C	CA282323184	HSD11B2	c.820G>C (p.Gly274Arg)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched