Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.67436677_67436680delinsGACT	CA2229310452	HSD11B2	c.892_895delinsGACT (p.Asp298=)
16	g.67436680_67436682del	CA212941	HSD11B2	c.895_897del (p.Tyr299del)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.67436680T>A	CA396282043	HSD11B2	c.895T>A (p.Tyr299Asn)
16	g.67436680T>C	CA396282047	HSD11B2	c.895T>C (p.Tyr299His)
16	g.67436680T>G	CA396282051	HSD11B2	c.895T>G (p.Tyr299Asp)
16	g.67436681A=	CA2229310462	HSD11B2	c.896A= (p.Tyr299=)
16	g.67436681A>C	CA396282055	HSD11B2	c.896A>C (p.Tyr299Ser)
16	g.67436681A>G	CA396282065	HSD11B2	c.896A>G (p.Tyr299Cys)	dbSNP gnomAD v3 gnomAD v4
16	g.67436681A>T	CA396282062	HSD11B2	c.896A>T (p.Tyr299Phe)
16	g.67436682C>A	CA396282068	HSD11B2	c.897C>A (p.Tyr299Ter)
16	g.67436682C=	CA2229310466	HSD11B2	c.897C= (p.Tyr299=)
16	g.67436682C>G	CA396282072	HSD11B2	c.897C>G (p.Tyr299Ter)
16	g.67436682C>T	CA8110768	HSD11B2	c.897C>T (p.Tyr299=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436683A>C	CA396282085	HSD11B2	c.898A>C (p.Ile300Leu)
16	g.67436683A>G	CA396282090	HSD11B2	c.898A>G (p.Ile300Val)	dbSNP gnomAD v4
16	g.67436683A>T	CA396282092	HSD11B2	c.898A>T (p.Ile300Phe)
16	g.67436684T>A	CA396282100	HSD11B2	c.899T>A (p.Ile300Asn)
16	g.67436684T>C	CA396282108	HSD11B2	c.899T>C (p.Ile300Thr)
16	g.67436684T>G	CA396282112	HSD11B2	c.899T>G (p.Ile300Ser)
16	g.67436685C>A	CA8110769	HSD11B2	c.900C>A (p.Ile300=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436685C=	CA2229310469	HSD11B2	c.900C= (p.Ile300=)
16	g.67436685C>G	CA396282118	HSD11B2	c.900C>G (p.Ile300Met)
16	g.67436685C>T	CA496083020	HSD11B2	c.900C>T (p.Ile300=)	dbSNP gnomAD v3 gnomAD v4
16	g.67436686G>A	CA282323278	HSD11B2	c.901G>A (p.Glu301Lys)	dbSNP gnomAD v2 gnomAD v4
16	g.67436686G>C	CA396282124	HSD11B2	c.901G>C (p.Glu301Gln)
16	g.67436686G=	CA2229310471	HSD11B2	c.901G= (p.Glu301=)
16	g.67436686G>T	CA396282122	HSD11B2	c.901G>T (p.Glu301Ter)
16	g.67436687A>C	CA396282136	HSD11B2	c.902A>C (p.Glu301Ala)
16	g.67436687A>G	CA396282145	HSD11B2	c.902A>G (p.Glu301Gly)
16	g.67436687A>T	CA396282138	HSD11B2	c.902A>T (p.Glu301Val)
16	g.67436688G>A	CA496083021	HSD11B2	c.903G>A (p.Glu301=)	ClinVar dbSNP gnomAD v4
16	g.67436688G>C	CA396282148	HSD11B2	c.903G>C (p.Glu301Asp)
16	g.67436688G=	CA2229310474	HSD11B2	c.903G= (p.Glu301=)
16	g.67436688G>T	CA396282152	HSD11B2	c.903G>T (p.Glu301Asp)
16	g.67436689C>A	CA396282154	HSD11B2	c.904C>A (p.His302Asn)
16	g.67436689C>G	CA396282156	HSD11B2	c.904C>G (p.His302Asp)	gnomAD v4
16	g.67436689C>T	CA396282157	HSD11B2	c.904C>T (p.His302Tyr)
16	g.67436690A=	CA2229310478	HSD11B2	c.905A= (p.His302=)
16	g.67436690A>C	CA396282158	HSD11B2	c.905A>C (p.His302Pro)
16	g.67436690A>G	CA396282160	HSD11B2	c.905A>G (p.His302Arg)	dbSNP gnomAD v3 gnomAD v4
16	g.67436690A>T	CA396282162	HSD11B2	c.905A>T (p.His302Leu)
16	g.67436691C>A	CA396282165	HSD11B2	c.906C>A (p.His302Gln)
16	g.67436691C>G	CA396282167	HSD11B2	c.906C>G (p.His302Gln)
16	g.67436691C>T	CA496083022	HSD11B2	c.906C>T (p.His302=)
16	g.67436692T>A	CA396282169	HSD11B2	c.907T>A (p.Leu303Met)
16	g.67436692T>C	CA8110770	HSD11B2	c.907T>C (p.Leu303=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436692T>G	CA396282172	HSD11B2	c.907T>G (p.Leu303Val)
16	g.67436692T=	CA2229310480	HSD11B2	c.907T= (p.Leu303=)
16	g.67436693T>A	CA396282175	HSD11B2	c.908T>A (p.Leu303Ter)
16	g.67436693T>C	CA8110771	HSD11B2	c.908T>C (p.Leu303Ser)	dbSNP ExAC gnomAD v2

Number of alleles fetched