Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.67436588_67436589del	CA2633780219	HSD11B2	c.803_804del	gnomAD v4
16	g.67436587G>A	CA396281546	HSD11B2	c.803-1G>A (n.803-1G>A)
16	g.67436587G>C	CA396281547	HSD11B2	c.803-1G>C (n.803-1G>C)
16	g.67436587G>T	CA396281548	HSD11B2	c.803-1G>T (n.803-1G>T)	gnomAD v4
16	g.67436588A=	CA2229310356	HSD11B2	c.803A= (p.Glu268=)
16	g.67436588A>C	CA396281551	HSD11B2	c.803A>C (p.Glu268Ala)
16	g.67436588A>G	CA8110757	HSD11B2	c.803A>G (p.Glu268Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436588A>T	CA396281549	HSD11B2	c.803A>T (p.Glu268Val)
16	g.67436589G>A	CA496082961	HSD11B2	c.804G>A (p.Glu268=)
16	g.67436589G>C	CA396281552	HSD11B2	c.804G>C (p.Glu268Asp)
16	g.67436589G>T	CA396281554	HSD11B2	c.804G>T (p.Glu268Asp)
16	g.67436590T>A	CA396281559	HSD11B2	c.805T>A (p.Ser269Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.67436590T>C	CA396281563	HSD11B2	c.805T>C (p.Ser269Pro)
16	g.67436590T>G	CA396281565	HSD11B2	c.805T>G (p.Ser269Ala)
16	g.67436590T=	CA2229310359	HSD11B2	c.805T= (p.Ser269=)
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

Number of alleles fetched