Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.67436484_67436543del	CA2633779979	HSD11B2	c.802+98_803-45del (n.802+98_803-45del)	gnomAD v4
16	g.67436497T>G	CA2576029220	HSD11B2	c.803-91T>G (n.803-91T>G)
16	g.67436498T>C	CA2633780006	HSD11B2	c.803-90T>C (n.803-90T>C)	gnomAD v4
16	g.67436498T>G	CA2229310276	HSD11B2	c.803-90T>G (n.803-90T>G)	dbSNP
16	g.67436498T=	CA2229310275	HSD11B2	c.803-90T= (n.803-90T=)
16	g.67436500G>A	CA2229310278	HSD11B2	c.803-88G>A (n.803-88G>A)	dbSNP gnomAD v4
16	g.67436500G=	CA2229310277	HSD11B2	c.803-88G= (n.803-88G=)
16	g.67436502C=	CA2229310279	HSD11B2	c.803-86C= (n.803-86C=)
16	g.67436502C>T	CA978416374	HSD11B2	c.803-86C>T (n.803-86C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.67436504G>A	CA2633780009	HSD11B2	c.803-84G>A (n.803-84G>A)	gnomAD v4
16	g.67436505C=	CA2229310280	HSD11B2	c.803-83C= (n.803-83C=)
16	g.67436505C>G	CA2229310281	HSD11B2	c.803-83C>G (n.803-83C>G)	dbSNP
16	g.67436506A>C	CA2633780012	HSD11B2	c.803-82A>C (n.803-82A>C)	gnomAD v4
16	g.67436506dup	CA723037278	HSD11B2	c.803-82dup (n.803-82dup)	dbSNP gnomAD v3 gnomAD v4
16	g.67436507G>A	CA656803953	HSD11B2	c.803-81G>A (n.803-81G>A)	gnomAD v4 COSMIC
16	g.67436508A=	CA2229310282	HSD11B2	c.803-80A= (n.803-80A=)
16	g.67436508A>G	CA282323025	HSD11B2	c.803-80A>G (n.803-80A>G)	dbSNP gnomAD v4
16	g.67436509C>A	CA2229310284	HSD11B2	c.803-79C>A (n.803-79C>A)	dbSNP gnomAD v4
16	g.67436509C=	CA2229310283	HSD11B2	c.803-79C= (n.803-79C=)
16	g.67436510C>A	CA2576029221	HSD11B2	c.803-78C>A (n.803-78C>A)
16	g.67436511T>C	CA2633780050	HSD11B2	c.803-77T>C (n.803-77T>C)	gnomAD v4
16	g.67436512G>A	CA2633780055	HSD11B2	c.803-76G>A (n.803-76G>A)	gnomAD v4
16	g.67436513G>A	CA2633780056	HSD11B2	c.803-75G>A (n.803-75G>A)	gnomAD v4
16	g.67436514C>A	CA2576029222	HSD11B2	c.803-74C>A (n.803-74C>A)	gnomAD v4
16	g.67436514C=	CA2229310285	HSD11B2	c.803-74C= (n.803-74C=)
16	g.67436514C>G	CA282323039	HSD11B2	c.803-74C>G (n.803-74C>G)	dbSNP
16	g.67436514C>T	CA282323040	HSD11B2	c.803-74C>T (n.803-74C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.67436515G>A	CA282323044	HSD11B2	c.803-73G>A (n.803-73G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436515G=	CA2229310286	HSD11B2	c.803-73G= (n.803-73G=)
16	g.67436515G>T	CA2633780065	HSD11B2	c.803-73G>T (n.803-73G>T)	gnomAD v4
16	g.67436516C>A	CA282323045	HSD11B2	c.803-72C>A (n.803-72C>A)	dbSNP gnomAD v3 gnomAD v4
16	g.67436516C=	CA2229310287	HSD11B2	c.803-72C= (n.803-72C=)
16	g.67436516C>T	CA282323047	HSD11B2	c.803-72C>T (n.803-72C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436517G>A	CA282323050	HSD11B2	c.803-71G>A (n.803-71G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436517G>C	CA2732147210	HSD11B2	c.803-71G>C (n.803-71G>C)	dbSNP
16	g.67436517G=	CA2229310288	HSD11B2	c.803-71G= (n.803-71G=)
16	g.67436517G>T	CA2633780077	HSD11B2	c.803-71G>T (n.803-71G>T)	dbSNP gnomAD v4
16	g.67436518G>A	CA2229310291	HSD11B2	c.803-70G>A (n.803-70G>A)	dbSNP
16	g.67436518G=	CA2229310290	HSD11B2	c.803-70G= (n.803-70G=)
16	g.67436518G>T	CA2633780080	HSD11B2	c.803-70G>T (n.803-70G>T)	gnomAD v4
16	g.67436519G>A	CA978416378	HSD11B2	c.803-69G>A (n.803-69G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.67436519G=	CA2229310292	HSD11B2	c.803-69G= (n.803-69G=)
16	g.67436519_67436538delinsGTTAAACAGTCCTAATTGGC	CA2229310293	HSD11B2	c.803-69_803-50delinsGTTAAACAGTCCTAATTGGC (n.803-69_803-50delinsGTTAAACAGTCCTAATTGGC)
16	g.67436520T>G	CA2229310295	HSD11B2	c.803-68T>G (n.803-68T>G)	dbSNP
16	g.67436520T=	CA2229310294	HSD11B2	c.803-68T= (n.803-68T=)
16	g.67436522_67436540del	CA978416379	HSD11B2	c.803-66_803-48del (n.803-66_803-48del)	dbSNP gnomAD v3 gnomAD v4
16	g.67436522A=	CA2229310296	HSD11B2	c.803-66A= (n.803-66A=)
16	g.67436522A>C	CA978416380	HSD11B2	c.803-66A>C (n.803-66A>C)	dbSNP gnomAD v3 gnomAD v4
16	g.67436522A>G	CA2576029223	HSD11B2	c.803-66A>G (n.803-66A>G)	gnomAD v4
16	g.67436524del	CA2633780124	HSD11B2	c.803-64del (n.803-64del)	gnomAD v4
16	g.67436523_67436525delinsAAC	CA2229310298	HSD11B2	c.803-65_803-63delinsAAC (n.803-65_803-63delinsAAC)
16	g.67436525_67436526del	CA282323053	HSD11B2	c.803-63_803-62del (n.803-63_803-62del)	dbSNP gnomAD v3 gnomAD v4
16	g.67436525C>G	CA2633780131	HSD11B2	c.803-63C>G (n.803-63C>G)	gnomAD v4
16	g.67436525C>T	CA2576029224	HSD11B2	c.803-63C>T (n.803-63C>T)	gnomAD v4
16	g.67436526A=	CA2229310301	HSD11B2	c.803-62A= (n.803-62A=)
16	g.67436526A>G	CA282323074	HSD11B2	c.803-62A>G (n.803-62A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436529C=	CA2229310303	HSD11B2	c.803-59C= (n.803-59C=)
16	g.67436529C>T	CA623119622	HSD11B2	c.803-59C>T (n.803-59C>T)	dbSNP gnomAD v2
16	g.67436532A>G	CA2633780136	HSD11B2	c.803-56A>G (n.803-56A>G)	gnomAD v4
16	g.67436533A>G	CA2633780137	HSD11B2	c.803-55A>G (n.803-55A>G)	gnomAD v4
16	g.67436534T>C	CA496082941	HSD11B2	c.803-54T>C (n.803-54T>C)	dbSNP gnomAD v4
16	g.67436534T=	CA2229310305	HSD11B2	c.803-54T= (n.803-54T=)
16	g.67436536G>C	CA282323082	HSD11B2	c.803-52G>C (n.803-52G>C)	dbSNP gnomAD v4
16	g.67436536G=	CA2229310307	HSD11B2	c.803-52G= (n.803-52G=)
16	g.67436538C=	CA2229310310	HSD11B2	c.803-50C= (n.803-50C=)
16	g.67436538C>T	CA623119623	HSD11B2	c.803-50C>T (n.803-50C>T)	dbSNP gnomAD v2 gnomAD v4
16	g.67436542G>A	CA2741494984	HSD11B2	c.803-46G>A (n.803-46G>A)
16	g.67436543G>A	CA2633780155	HSD11B2	c.803-45G>A (n.803-45G>A)	gnomAD v4
16	g.67436544C>A	CA2576029225	HSD11B2	c.803-44C>A (n.803-44C>A)
16	g.67436545T=	CA2229310311	HSD11B2	c.803-43T= (n.803-43T=)
16	g.67436546C>A	CA8110752	HSD11B2	c.803-42C>A (n.803-42C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436546C=	CA2229310314	HSD11B2	c.803-42C= (n.803-42C=)
16	g.67436546C>T	CA2229310315	HSD11B2	c.803-42C>T (n.803-42C>T)	dbSNP gnomAD v3 gnomAD v4
16	g.67436549dup	CA2229310313	HSD11B2	c.803-39dup (n.803-39dup)	dbSNP
16	g.67436547C=	CA2229310317	HSD11B2	c.803-41C= (n.803-41C=)
16	g.67436547C>T	CA623119625	HSD11B2	c.803-41C>T (n.803-41C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436550T>C	CA2229310319	HSD11B2	c.803-38T>C (n.803-38T>C)	dbSNP gnomAD v4
16	g.67436550T=	CA2229310318	HSD11B2	c.803-38T= (n.803-38T=)
16	g.67436552G>A	CA2229310322	HSD11B2	c.803-36G>A (n.803-36G>A)	dbSNP
16	g.67436552G>C	CA282323101	HSD11B2	c.803-36G>C (n.803-36G>C)	dbSNP
16	g.67436552G=	CA2229310321	HSD11B2	c.803-36G= (n.803-36G=)
16	g.67436553C=	CA2229310323	HSD11B2	c.803-35C= (n.803-35C=)
16	g.67436553C>G	CA282323105	HSD11B2	c.803-35C>G (n.803-35C>G)	dbSNP gnomAD v2 gnomAD v4
16	g.67436555G>A	CA8110753	HSD11B2	c.803-33G>A (n.803-33G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436555G>C	CA2633780168	HSD11B2	c.803-33G>C (n.803-33G>C)	gnomAD v4
16	g.67436555G=	CA2229310325	HSD11B2	c.803-33G= (n.803-33G=)
16	g.67436555G>T	CA2633780169	HSD11B2	c.803-33G>T (n.803-33G>T)	gnomAD v4
16	g.67436557T>A	CA2633780171	HSD11B2	c.803-31T>A (n.803-31T>A)	gnomAD v4
16	g.67436558C>T	CA2576029226	HSD11B2	c.803-30C>T (n.803-30C>T)
16	g.67436560_67436562dup	CA2633780172	HSD11B2	c.803-28_803-26dup (n.803-28_803-26dup)	gnomAD v4
16	g.67436561A>C	CA2807429778	HSD11B2	c.803-27A>C (n.803-27A>C)
16	g.67436561A>T	CA2576029227	HSD11B2	c.803-27A>T (n.803-27A>T)	gnomAD v4
16	g.67436562C>A	CA2633780188	HSD11B2	c.803-26C>A (n.803-26C>A)	gnomAD v4
16	g.67436562C=	CA2229310328	HSD11B2	c.803-26C= (n.803-26C=)
16	g.67436562C>G	CA282323130	HSD11B2	c.803-26C>G (n.803-26C>G)	dbSNP gnomAD v4
16	g.67436562C>T	CA2633780183	HSD11B2	c.803-26C>T (n.803-26C>T)	gnomAD v4
16	g.67436564_67436565del	CA2633780179	HSD11B2	c.803-24_803-23del (n.803-24_803-23del)	gnomAD v4
16	g.67436563T>A	CA8110754	HSD11B2	c.803-25T>A (n.803-25T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.67436563T=	CA2229310330	HSD11B2	c.803-25T= (n.803-25T=)
16	g.67436565T>G	CA2576029228	HSD11B2	c.803-23T>G (n.803-23T>G)
16	g.67436567_67436568delinsAC	CA2229310331	HSD11B2	c.803-21_803-20delinsAC (n.803-21_803-20delinsAC)
16	g.67436568C>A	CA2229310334	HSD11B2	c.803-20C>A (n.803-20C>A)	dbSNP
16	g.67436568C=	CA2229310333	HSD11B2	c.803-20C= (n.803-20C=)
16	g.67436569del	CA978416382	HSD11B2	c.803-19del (n.803-19del)	dbSNP gnomAD v3 gnomAD v4
16	g.67436569C>T	CA2633780194	HSD11B2	c.803-19C>T (n.803-19C>T)	gnomAD v4
16	g.67436570T>C	CA623119626	HSD11B2	c.803-18T>C (n.803-18T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.67436570T=	CA2229310335	HSD11B2	c.803-18T= (n.803-18T=)
16	g.67436573C>A	CA282323140	HSD11B2	c.803-15C>A (n.803-15C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436573C=	CA2229310337	HSD11B2	c.803-15C= (n.803-15C=)
16	g.67436573C>G	CA2633780198	HSD11B2	c.803-15C>G (n.803-15C>G)	gnomAD v4
16	g.67436574C=	CA2229310339	HSD11B2	c.803-14C= (n.803-14C=)
16	g.67436574C>T	CA2229310341	HSD11B2	c.803-14C>T (n.803-14C>T)	dbSNP
16	g.67436575A>C	CA2633780201	HSD11B2	c.803-13A>C (n.803-13A>C)	gnomAD v4
16	g.67436576C=	CA2229310344	HSD11B2	c.803-12C= (n.803-12C=)
16	g.67436576C>G	CA723037299	HSD11B2	c.803-12C>G (n.803-12C>G)	dbSNP gnomAD v3 gnomAD v4
16	g.67436576C>T	CA2633780202	HSD11B2	c.803-12C>T (n.803-12C>T)	gnomAD v4
16	g.67436578C>A	CA8110755	HSD11B2	c.803-10C>A (n.803-10C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436578C=	CA2229310346	HSD11B2	c.803-10C= (n.803-10C=)
16	g.67436580T>C	CA623119630	HSD11B2	c.803-8T>C (n.803-8T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.67436580T>G	CA2576029229	HSD11B2	c.803-8T>G (n.803-8T>G)
16	g.67436580T=	CA2229310349	HSD11B2	c.803-8T= (n.803-8T=)
16	g.67436582C=	CA2229310352	HSD11B2	c.803-6C= (n.803-6C=)
16	g.67436582C>T	CA623119632	HSD11B2	c.803-6C>T (n.803-6C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436583C>T	CA2633780210	HSD11B2	c.803-5C>T (n.803-5C>T)	gnomAD v4
16	g.67436584C=	CA2229310354	HSD11B2	c.803-4C= (n.803-4C=)
16	g.67436584C>G	CA8110756	HSD11B2	c.803-4C>G (n.803-4C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.67436584C>T	CA2576029230	HSD11B2	c.803-4C>T (n.803-4C>T)
16	g.67436586A>C	CA396281539	HSD11B2	c.803-2A>C (n.803-2A>C)
16	g.67436586A>G	CA396281542	HSD11B2	c.803-2A>G (n.803-2A>G)	gnomAD v4
16	g.67436586A>T	CA396281544	HSD11B2	c.803-2A>T (n.803-2A>T)
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)

Number of alleles fetched