Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
16	g.67436693T>G	CA396282176	HSD11B2	c.908T>G (p.Leu303Trp)
16	g.67436693T=	CA2229310483	HSD11B2	c.908T= (p.Leu303=)
16	g.67436694G>A	CA8110772	HSD11B2	c.909G>A (p.Leu303=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436694G>C	CA396282178	HSD11B2	c.909G>C (p.Leu303Phe)
16	g.67436694G=	CA2229310487	HSD11B2	c.909G= (p.Leu303=)
16	g.67436694G>T	CA396282177	HSD11B2	c.909G>T (p.Leu303Phe)
16	g.67436695C>A	CA8110773	HSD11B2	c.910C>A (p.His304Asn)	dbSNP ExAC gnomAD v2
16	g.67436695C=	CA2229310489	HSD11B2	c.910C= (p.His304=)
16	g.67436695C>G	CA396282179	HSD11B2	c.910C>G (p.His304Asp)
16	g.67436695C>T	CA396282180	HSD11B2	c.910C>T (p.His304Tyr)
16	g.67436696A>C	CA396282181	HSD11B2	c.911A>C (p.His304Pro)
16	g.67436696A>G	CA396282183	HSD11B2	c.911A>G (p.His304Arg)
16	g.67436696A>T	CA396282184	HSD11B2	c.911A>T (p.His304Leu)
16	g.67436696_67436697insCTACAT	CA2576029231	HSD11B2	c.911_912insCTACAT (p.His304_Gly305insTyrIle)
16	g.67436697T>A	CA396282186	HSD11B2	c.912T>A (p.His304Gln)	gnomAD v4
16	g.67436697T>C	CA8110774	HSD11B2	c.912T>C (p.His304=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.67436697T>G	CA396282188	HSD11B2	c.912T>G (p.His304Gln)
16	g.67436697T=	CA2229310494	HSD11B2	c.912T= (p.His304=)
16	g.67436699_67436709del	CA2695223627	HSD11B2	c.914_924del (p.Gly305AlafsTer?)
16	g.67436698G>A	CA396282190	HSD11B2	c.913G>A (p.Gly305Arg)
16	g.67436698G>C	CA396282191	HSD11B2	c.913G>C (p.Gly305Arg)
16	g.67436698G>T	CA396282197	HSD11B2	c.913G>T (p.Gly305Trp)
16	g.67436699G>A	CA396282198	HSD11B2	c.914G>A (p.Gly305Glu)
16	g.67436699G>C	CA396282200	HSD11B2	c.914G>C (p.Gly305Ala)
16	g.67436699G>T	CA396282199	HSD11B2	c.914G>T (p.Gly305Val)
16	g.67436700G>A	CA496083023	HSD11B2	c.915G>A (p.Gly305=)	gnomAD v4
16	g.67436700G>C	CA496083024	HSD11B2	c.915G>C (p.Gly305=)

Number of alleles fetched