Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
16	g.67436268C>A	CA396280227	HSD11B2	c.684C>A (p.Cys228Ter)
16	g.67436268C>G	CA396280228	HSD11B2	c.684C>G (p.Cys228Trp)	gnomAD v4
16	g.67436268C>T	CA496082845	HSD11B2	c.684C>T (p.Cys228=)	gnomAD v4
16	g.67436269T>A	CA396280229	HSD11B2	c.685T>A (p.Leu229Met)
16	g.67436269T>C	CA496082846	HSD11B2	c.685T>C (p.Leu229=)
16	g.67436269T>G	CA396280230	HSD11B2	c.685T>G (p.Leu229Val)
16	g.67436270T>A	CA396280231	HSD11B2	c.686T>A (p.Leu229Ter)
16	g.67436270T>C	CA396280232	HSD11B2	c.686T>C (p.Leu229Ser)
16	g.67436270T>G	CA396280233	HSD11B2	c.686T>G (p.Leu229Trp)
16	g.67436271G>A	CA496082847	HSD11B2	c.687G>A (p.Leu229=)
16	g.67436271G>C	CA396280241	HSD11B2	c.687G>C (p.Leu229Phe)
16	g.67436271G>T	CA396280239	HSD11B2	c.687G>T (p.Leu229Phe)
16	g.67436272G>A	CA396280244	HSD11B2	c.688G>A (p.Gly230Arg)	COSMIC
16	g.67436272G>C	CA396280246	HSD11B2	c.688G>C (p.Gly230Arg)
16	g.67436272G>T	CA396280249	HSD11B2	c.688G>T (p.Gly230Trp)
16	g.67436273G>A	CA396280251	HSD11B2	c.689G>A (p.Gly230Glu)	gnomAD v4 COSMIC
16	g.67436273G>C	CA396280253	HSD11B2	c.689G>C (p.Gly230Ala)
16	g.67436273G>T	CA396280256	HSD11B2	c.689G>T (p.Gly230Val)
16	g.67436274G>A	CA496082852	HSD11B2	c.690G>A (p.Gly230=)	gnomAD v4

Number of alleles fetched