Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.67436254A=	CA2229309975	HSD11B2	c.670A= (p.Met224=) n.533A=
16	g.67436254A>C	CA396280096	HSD11B2	c.670A>C (p.Met224Leu) n.533A>C	dbSNP gnomAD v3 gnomAD v4
16	g.67436254A>G	CA396280101	HSD11B2	c.670A>G (p.Met224Val) n.533A>G
16	g.67436254A>T	CA396280104	HSD11B2	c.670A>T (p.Met224Leu) n.533A>T
16	g.67436255T>A	CA396280112	HSD11B2	c.671T>A (p.Met224Lys) n.534T>A
16	g.67436255T>C	CA396280108	HSD11B2	c.671T>C (p.Met224Thr) n.534T>C
16	g.67436255T>G	CA396280106	HSD11B2	c.671T>G (p.Met224Arg) n.534T>G	dbSNP gnomAD v2 gnomAD v4
16	g.67436255T=	CA2229309979	HSD11B2	c.671T= (p.Met224=) n.534T=
16	g.67436256G>A	CA396280116	HSD11B2	c.672G>A (p.Met224Ile) n.535G>A	dbSNP gnomAD v2 gnomAD v4
16	g.67436256G>C	CA396280120	HSD11B2	c.672G>C (p.Met224Ile) n.535G>C
16	g.67436256G=	CA2229309982	HSD11B2	c.672G= (p.Met224=) n.535G=
16	g.67436256G>T	CA396280123	HSD11B2	c.672G>T (p.Met224Ile) n.535G>T
16	g.67436257C>A	CA8110718	HSD11B2	c.673C>A (p.Pro225Thr) n.536C>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436257C=	CA2229309983	HSD11B2	c.673C= (p.Pro225=) n.536C=
16	g.67436257C>G	CA396280129	HSD11B2	c.673C>G (p.Pro225Ala) n.536C>G	gnomAD v4
16	g.67436257C>T	CA396280132	HSD11B2	c.673C>T (p.Pro225Ser) n.536C>T
16	g.67436258C>A	CA396280135	HSD11B2	c.674C>A (p.Pro225Gln) n.537C>A
16	g.67436258C>G	CA396280140	HSD11B2	c.674C>G (p.Pro225Arg) n.537C>G
16	g.67436258C>T	CA396280136	HSD11B2	c.674C>T (p.Pro225Leu) n.537C>T
16	g.67436259A=	CA2229309986	HSD11B2	c.675A= (p.Pro225=) n.538A=
16	g.67436259A>C	CA496082827	HSD11B2	c.675A>C (p.Pro225=) n.538A>C
16	g.67436259A>G	CA8110719	HSD11B2	c.675A>G (p.Pro225=) n.538A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436259A>T	CA496082828	HSD11B2	c.675A>T (p.Pro225=) n.538A>T	gnomAD v4
16	g.67436259_67436260delinsGA	CA2695223624	HSD11B2	c.675_676delinsGA (p.Tyr226Asn) n.538_539delinsGA
16	g.67436260T>A	CA396280145	HSD11B2	c.676T>A (p.Tyr226Asn) n.539T>A
16	g.67436260T>C	CA396280148	HSD11B2	c.676T>C (p.Tyr226His) n.539T>C
16	g.67436260T>G	CA396280162	HSD11B2	c.676T>G (p.Tyr226Asp) n.539T>G
16	g.67436261A>C	CA396280171	HSD11B2	c.677A>C (p.Tyr226Ser) n.540A>C
16	g.67436261A>G	CA396280173	HSD11B2	c.677A>G (p.Tyr226Cys) n.540A>G
16	g.67436261A>T	CA396280176	HSD11B2	c.677A>T (p.Tyr226Phe) n.540A>T
16	g.67436262T>A	CA396280178	HSD11B2	c.678T>A (p.Tyr226Ter)
16	g.67436262T>C	CA496082834	HSD11B2	c.678T>C (p.Tyr226=)	gnomAD v4
16	g.67436262T>G	CA396280181	HSD11B2	c.678T>G (p.Tyr226Ter)
16	g.67436263C>A	CA396280185	HSD11B2	c.679C>A (p.Pro227Thr)
16	g.67436263C>G	CA396280189	HSD11B2	c.679C>G (p.Pro227Ala)
16	g.67436263C>T	CA396280191	HSD11B2	c.679C>T (p.Pro227Ser)
16	g.67436264C>A	CA396280199	HSD11B2	c.680C>A (p.Pro227Gln)	gnomAD v4
16	g.67436264C=	CA2229309992	HSD11B2	c.680C= (p.Pro227=)
16	g.67436264C>G	CA396280201	HSD11B2	c.680C>G (p.Pro227Arg)	dbSNP
16	g.67436264C>T	CA121886	HSD11B2	c.680C>T (p.Pro227Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436265G>A	CA8110720	HSD11B2	c.681G>A (p.Pro227=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436265G>C	CA496082839	HSD11B2	c.681G>C (p.Pro227=)
16	g.67436265G=	CA2229309997	HSD11B2	c.681G= (p.Pro227=)
16	g.67436265G>T	CA496082840	HSD11B2	c.681G>T (p.Pro227=)
16	g.67436266T>A	CA396280207	HSD11B2	c.682T>A (p.Cys228Ser)
16	g.67436266T>C	CA396280208	HSD11B2	c.682T>C (p.Cys228Arg)	gnomAD v4
16	g.67436266T>G	CA396280212	HSD11B2	c.682T>G (p.Cys228Gly)
16	g.67436267G>A	CA396280221	HSD11B2	c.683G>A (p.Cys228Tyr)
16	g.67436267G>C	CA396280224	HSD11B2	c.683G>C (p.Cys228Ser)
16	g.67436267G>T	CA396280226	HSD11B2	c.683G>T (p.Cys228Phe)

Number of alleles fetched