Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.52771467C>A	CA376539991	MBL2	c.169G>T (p.Gly57Ter)	dbSNP
10	g.52771467C=	CA1910259312	MBL2	c.169G= (p.Gly57=)
10	g.52771467C>G	CA5504422	MBL2	c.169G>C (p.Gly57Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771467C>T	CA376539992	MBL2	c.169G>A (p.Gly57Arg)	dbSNP COSMIC
10	g.52771468C>A	CA376539994	MBL2	c.168G>T (p.Lys56Asn)
10	g.52771468C=	CA1910259313	MBL2	c.168G= (p.Lys56=)
10	g.52771468C>G	CA376539993	MBL2	c.168G>C (p.Lys56Asn)	gnomAD v4
10	g.52771468C>T	CA5504423	MBL2	c.168G>A (p.Lys56=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771469T>A	CA376539995	MBL2	c.167A>T (p.Lys56Met)
10	g.52771469T>C	CA376539996	MBL2	c.167A>G (p.Lys56Arg)	dbSNP
10	g.52771469T>G	CA376539997	MBL2	c.167A>C (p.Lys56Thr)
10	g.52771469T=	CA1910259314	MBL2	c.167A= (p.Lys56=)
10	g.52771470T>A	CA376539998	MBL2	c.166A>T (p.Lys56Ter)
10	g.52771470T>C	CA10628696	MBL2	c.166A>G (p.Lys56Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.52771470T>G	CA376539999	MBL2	c.166A>C (p.Lys56Gln)
10	g.52771470T=	CA1910259315	MBL2	c.166A= (p.Lys56=)
10	g.52771471G>A	CA469520590	MBL2	c.165C>T (p.Thr55=)
10	g.52771471G>C	CA469520591	MBL2	c.165C>G (p.Thr55=)
10	g.52771471G>T	CA469520592	MBL2	c.165C>A (p.Thr55=)
10	g.52771472G>A	CA376540000	MBL2	c.164C>T (p.Thr55Ile)	dbSNP gnomAD v4
10	g.52771472G>C	CA376540001	MBL2	c.164C>G (p.Thr55Ser)	gnomAD v4
10	g.52771472G=	CA1910259316	MBL2	c.164C= (p.Thr55=)
10	g.52771472G>T	CA376540002	MBL2	c.164C>A (p.Thr55Asn)
10	g.52771473T>A	CA376540003	MBL2	c.163A>T (p.Thr55Ser)
10	g.52771473T>C	CA10635923	MBL2	c.163A>G (p.Thr55Ala)	ClinVar dbSNP gnomAD v2 COSMIC
10	g.52771473T>G	CA376540004	MBL2	c.163A>C (p.Thr55Pro)
10	g.52771473T=	CA1910259317	MBL2	c.163A= (p.Thr55=)
10	g.52771474G>A	CA469520593	MBL2	c.162C>T (p.Gly54=)
10	g.52771474G>C	CA469520594	MBL2	c.162C>G (p.Gly54=)
10	g.52771474G>T	CA469520595	MBL2	c.162C>A (p.Gly54=)
10	g.52771475C>A	CA376540005	MBL2	c.161G>T (p.Gly54Val)
10	g.52771475C=	CA1910259318	MBL2	c.161G= (p.Gly54=)
10	g.52771475C>G	CA376540006	MBL2	c.161G>C (p.Gly54Ala)
10	g.52771475C>T	CA123877	MBL2	c.161G>A (p.Gly54Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771476C>A	CA376540009	MBL2	c.160G>T (p.Gly54Cys)
10	g.52771476C>G	CA376540007	MBL2	c.160G>C (p.Gly54Arg)
10	g.52771476C>T	CA376540008	MBL2	c.160G>A (p.Gly54Ser)
10	g.52771477A>C	CA376540010	MBL2	c.159T>G (p.Asp53Glu)
10	g.52771477A>G	CA469520596	MBL2	c.159T>C (p.Asp53=)	gnomAD v4
10	g.52771477A>T	CA376540011	MBL2	c.159T>A (p.Asp53Glu)
10	g.52771478T>A	CA376540012	MBL2	c.158A>T (p.Asp53Val)
10	g.52771478T>C	CA376540013	MBL2	c.158A>G (p.Asp53Gly)
10	g.52771478T>G	CA376540014	MBL2	c.158A>C (p.Asp53Ala)
10	g.52771479del	CA2609210204	MBL2	c.157del (p.Asp53MetfsTer?)	gnomAD v4
10	g.52771479C>A	CA376540015	MBL2	c.157G>T (p.Asp53Tyr)	COSMIC
10	g.52771479C>G	CA376540016	MBL2	c.157G>C (p.Asp53His)
10	g.52771479C>T	CA376540017	MBL2	c.157G>A (p.Asp53Asn)
10	g.52771480A>C	CA469520600	MBL2	c.156T>G (p.Arg52=)
10	g.52771480A>G	CA469520599	MBL2	c.156T>C (p.Arg52=)
10	g.52771480A>T	CA469520598	MBL2	c.156T>A (p.Arg52=)
10	g.52771481C>A	CA376540018	MBL2	c.155G>T (p.Arg52Leu)
10	g.52771481C=	CA1910259319	MBL2	c.155G= (p.Arg52=)
10	g.52771481C>G	CA376540019	MBL2	c.155G>C (p.Arg52Pro)
10	g.52771481C>T	CA5504424	MBL2	c.155G>A (p.Arg52His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771482G>A	CA123885	MBL2	c.154C>T (p.Arg52Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771482G>C	CA376540020	MBL2	c.154C>G (p.Arg52Gly)
10	g.52771482G=	CA1910259320	MBL2	c.154C= (p.Arg52=)
10	g.52771482G>T	CA376540021	MBL2	c.154C>A (p.Arg52Ser)	dbSNP gnomAD v4
10	g.52771482_52771483delinsGC	CA1910259321	MBL2	c.153_154delinsGC (p.Gly51=)
10	g.52771483C>A	CA469520603	MBL2	c.153G>T (p.Gly51=)
10	g.52771483C>G	CA469520601	MBL2	c.153G>C (p.Gly51=)
10	g.52771483C>T	CA469520602	MBL2	c.153G>A (p.Gly51=)
10	g.52771485del	CA1910259322	MBL2	c.153del (p.Arg52ValfsTer?)	dbSNP gnomAD v4
10	g.52771484C>A	CA376540022	MBL2	c.152G>T (p.Gly51Val)
10	g.52771484C>G	CA376540023	MBL2	c.152G>C (p.Gly51Ala)
10	g.52771484C>T	CA376540024	MBL2	c.152G>A (p.Gly51Glu)	gnomAD v4 COSMIC
10	g.52771485C>A	CA376540025	MBL2	c.151G>T (p.Gly51Trp)
10	g.52771485C=	CA1910259323	MBL2	c.151G= (p.Gly51=)
10	g.52771485C>G	CA376540026	MBL2	c.151G>C (p.Gly51Arg)
10	g.52771485C>T	CA207457369	MBL2	c.151G>A (p.Gly51Arg)	dbSNP gnomAD v3 gnomAD v4
10	g.52771486A=	CA1910259324	MBL2	c.150T= (p.Asp50=)
10	g.52771486A>C	CA376540027	MBL2	c.150T>G (p.Asp50Glu)
10	g.52771486A>G	CA5504425	MBL2	c.150T>C (p.Asp50=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771486A>T	CA376540028	MBL2	c.150T>A (p.Asp50Glu)
10	g.52771487T>A	CA376540029	MBL2	c.149A>T (p.Asp50Val)	gnomAD v4
10	g.52771487T>C	CA376540030	MBL2	c.149A>G (p.Asp50Gly)
10	g.52771487T>G	CA376540031	MBL2	c.149A>C (p.Asp50Ala)
10	g.52771488C>A	CA376540034	MBL2	c.148G>T (p.Asp50Tyr)
10	g.52771488C>G	CA376540033	MBL2	c.148G>C (p.Asp50His)
10	g.52771488C>T	CA376540032	MBL2	c.148G>A (p.Asp50Asn)
10	g.52771489T>A	CA376540035	MBL2	c.147A>T (p.Lys49Asn)
10	g.52771489T>C	CA469520604	MBL2	c.147A>G (p.Lys49=)	gnomAD v4
10	g.52771489T>G	CA376540036	MBL2	c.147A>C (p.Lys49Asn)
10	g.52771490T>A	CA376540037	MBL2	c.146A>T (p.Lys49Ile)
10	g.52771490T>C	CA376540038	MBL2	c.146A>G (p.Lys49Arg)
10	g.52771490T>G	CA376540039	MBL2	c.146A>C (p.Lys49Thr)
10	g.52771491T>A	CA376540042	MBL2	c.145A>T (p.Lys49Ter)
10	g.52771491T>C	CA376540041	MBL2	c.145A>G (p.Lys49Glu)
10	g.52771491T>G	CA376540040	MBL2	c.145A>C (p.Lys49Gln)
10	g.52771491_52771492insACCCGGTTCGCCCTGCGG	CA2527131312	MBL2	c.144_145insCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGly)
10	g.52771491_52771492insACCCGGTTCGCCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGGCCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCGCCCTGCGG	CA2564684123	MBL2	c.144_145insCCGCAGGGCGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGCCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly)
10	g.52771491_52771492insACCCGGTTCACCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGACCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCACCCTGCGG	CA2537735057	MBL2	c.144_145insCCGCAGGGTGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGTCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGTGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly)
10	g.52771492G>A	CA469520605	MBL2	c.144C>T (p.Gly48=)	dbSNP gnomAD v2 gnomAD v4
10	g.52771492G>C	CA469520606	MBL2	c.144C>G (p.Gly48=)
10	g.52771492G=	CA1910259325	MBL2	c.144C= (p.Gly48=)
10	g.52771492G>T	CA469520607	MBL2	c.144C>A (p.Gly48=)	COSMIC
10	g.52771492_52771493delinsGC	CA1910259326	MBL2	c.143_144delinsGC (p.Gly48=)
10	g.52771493C>A	CA376540043	MBL2	c.143G>T (p.Gly48Val)
10	g.52771493C=	CA1910259327	MBL2	c.143G= (p.Gly48=)
10	g.52771493C>G	CA376540044	MBL2	c.143G>C (p.Gly48Ala)
10	g.52771493C>T	CA376540045	MBL2	c.143G>A (p.Gly48Asp)	dbSNP
10	g.52771494del	CA666360510	MBL2	c.143del (p.Gly48AlafsTer?)	dbSNP gnomAD v3 gnomAD v4
10	g.52771494C>A	CA376540046	MBL2	c.142G>T (p.Gly48Cys)
10	g.52771494C>G	CA376540047	MBL2	c.142G>C (p.Gly48Arg)
10	g.52771494C>T	CA376540048	MBL2	c.142G>A (p.Gly48Ser)
10	g.52771495del	CA2520754033	MBL2	c.141del (p.Gly48AlafsTer?)
10	g.52771495T>A	CA469520608	MBL2	c.141A>T (p.Pro47=)
10	g.52771495T>C	CA469520609	MBL2	c.141A>G (p.Pro47=)
10	g.52771495T>G	CA469520610	MBL2	c.141A>C (p.Pro47=)
10	g.52771496G>A	CA376540049	MBL2	c.140C>T (p.Pro47Leu)
10	g.52771496G>C	CA376540051	MBL2	c.140C>G (p.Pro47Arg)	dbSNP gnomAD v3 gnomAD v4
10	g.52771496G=	CA1910259328	MBL2	c.140C= (p.Pro47=)
10	g.52771496G>T	CA376540050	MBL2	c.140C>A (p.Pro47Gln)	dbSNP gnomAD v4
10	g.52771497G>A	CA376540052	MBL2	c.139C>T (p.Pro47Ser)
10	g.52771497G>C	CA376540053	MBL2	c.139C>G (p.Pro47Ala)
10	g.52771497G>T	CA376540054	MBL2	c.139C>A (p.Pro47Thr)	COSMIC
10	g.52771498G>A	CA5504426	MBL2	c.138C>T (p.Phe46=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771498G>C	CA376540055	MBL2	c.138C>G (p.Phe46Leu)
10	g.52771498G=	CA1910259329	MBL2	c.138C= (p.Phe46=)
10	g.52771498G>T	CA376540056	MBL2	c.138C>A (p.Phe46Leu)
10	g.52771499A>C	CA376540057	MBL2	c.137T>G (p.Phe46Cys)
10	g.52771499A>G	CA376540058	MBL2	c.137T>C (p.Phe46Ser)
10	g.52771499A>T	CA376540059	MBL2	c.137T>A (p.Phe46Tyr)
10	g.52771500A=	CA1910259330	MBL2	c.136T= (p.Phe46=)
10	g.52771500A>C	CA376540060	MBL2	c.136T>G (p.Phe46Val)
10	g.52771500A>G	CA5504427	MBL2	c.136T>C (p.Phe46Leu)	dbSNP ExAC gnomAD v2
10	g.52771500A>T	CA376540061	MBL2	c.136T>A (p.Phe46Ile)
10	g.52771500_52771501insTACCCT	CA2563960770	MBL2	c.135_136insAGGGTA (p.Gly45_Phe46insArgVal)
10	g.52771501G>A	CA469520613	MBL2	c.135C>T (p.Gly45=)	dbSNP
10	g.52771501G>C	CA469520614	MBL2	c.135C>G (p.Gly45=)
10	g.52771501G=	CA1910259331	MBL2	c.135C= (p.Gly45=)
10	g.52771501G>T	CA469520615	MBL2	c.135C>A (p.Gly45=)
10	g.52771502C>A	CA376540063	MBL2	c.134G>T (p.Gly45Val)
10	g.52771502C>G	CA376540064	MBL2	c.134G>C (p.Gly45Ala)
10	g.52771502C>T	CA376540062	MBL2	c.134G>A (p.Gly45Asp)
10	g.52771502_52771503insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC	CA2551880818	MBL2	c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG (p.Gly46SerfsTer10)
10	g.52771503C>A	CA376540065	MBL2	c.133G>T (p.Gly45Cys)	dbSNP gnomAD v4
10	g.52771503C=	CA1910259332	MBL2	c.133G= (p.Gly45=)
10	g.52771503C>G	CA376540066	MBL2	c.133G>C (p.Gly45Arg)
10	g.52771503C>T	CA5504428	MBL2	c.133G>A (p.Gly45Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771503_52771504delinsCG	CA1910259333	MBL2	c.132_133delinsCG (p.Asn44=)
10	g.52771504del	CA5504429	MBL2	c.132del (p.Asn44LysfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771504G>A	CA5504430	MBL2	c.132C>T (p.Asn44=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10	g.52771504G>C	CA376540067	MBL2	c.132C>G (p.Asn44Lys)
10	g.52771504G=	CA1910259334	MBL2	c.132C= (p.Asn44=)
10	g.52771504G>T	CA376540068	MBL2	c.132C>A (p.Asn44Lys)
10	g.52771505T>A	CA376540069	MBL2	c.131A>T (p.Asn44Ile)
10	g.52771505T>C	CA207457370	MBL2	c.131A>G (p.Asn44Ser)	dbSNP
10	g.52771505T>G	CA376540070	MBL2	c.131A>C (p.Asn44Thr)
10	g.52771505T=	CA1910259335	MBL2	c.131A= (p.Asn44=)
10	g.52771506T>A	CA376540071	MBL2	c.130A>T (p.Asn44Tyr)
10	g.52771506T>C	CA376540072	MBL2	c.130A>G (p.Asn44Asp)	gnomAD v4
10	g.52771506T>G	CA376540073	MBL2	c.130A>C (p.Asn44His)
10	g.52771507G>A	CA469520617	MBL2	c.129C>T (p.Ile43=)
10	g.52771507G>C	CA376540074	MBL2	c.129C>G (p.Ile43Met)
10	g.52771507G>T	CA469520618	MBL2	c.129C>A (p.Ile43=)
10	g.52771508A>C	CA376540077	MBL2	c.128T>G (p.Ile43Ser)
10	g.52771508A>G	CA376540076	MBL2	c.128T>C (p.Ile43Thr)
10	g.52771508A>T	CA376540075	MBL2	c.128T>A (p.Ile43Asn)	gnomAD v4
10	g.52771509T>A	CA376540078	MBL2	c.127A>T (p.Ile43Phe)
10	g.52771509T>C	CA376540079	MBL2	c.127A>G (p.Ile43Val)	gnomAD v4
10	g.52771509T>G	CA376540080	MBL2	c.127A>C (p.Ile43Leu)
10	g.52771510G>A	CA207457371	MBL2	c.126C>T (p.Gly42=)	dbSNP gnomAD v4
10	g.52771510G>C	CA469520619	MBL2	c.126C>G (p.Gly42=)
10	g.52771510G=	CA1910259336	MBL2	c.126C= (p.Gly42=)
10	g.52771510G>T	CA469520620	MBL2	c.126C>A (p.Gly42=)
10	g.52771512_52771520del	CA2609210205	MBL2	c.118_126del (p.Ser40_Gly42del)	gnomAD v4
10	g.52771511C>A	CA376540081	MBL2	c.125G>T (p.Gly42Val)
10	g.52771511C>G	CA376540082	MBL2	c.125G>C (p.Gly42Ala)	gnomAD v4
10	g.52771511C>T	CA376540083	MBL2	c.125G>A (p.Gly42Asp)	gnomAD v4
10	g.52771512C>A	CA376540084	MBL2	c.124G>T (p.Gly42Cys)
10	g.52771512C>G	CA376540085	MBL2	c.124G>C (p.Gly42Arg)
10	g.52771512C>T	CA376540086	MBL2	c.124G>A (p.Gly42Ser)
10	g.52771513T>A	CA469520623	MBL2	c.123A>T (p.Pro41=)
10	g.52771513T>C	CA469520621	MBL2	c.123A>G (p.Pro41=)
10	g.52771513T>G	CA469520622	MBL2	c.123A>C (p.Pro41=)
10	g.52771514G>A	CA376540087	MBL2	c.122C>T (p.Pro41Leu)
10	g.52771514G>C	CA376540088	MBL2	c.122C>G (p.Pro41Arg)
10	g.52771514G>T	CA376540089	MBL2	c.122C>A (p.Pro41Gln)
10	g.52771515G>A	CA376540090	MBL2	c.121C>T (p.Pro41Ser)
10	g.52771515G>C	CA5504431	MBL2	c.121C>G (p.Pro41Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771515G=	CA1910259337	MBL2	c.121C= (p.Pro41=)
10	g.52771515G>T	CA376540091	MBL2	c.121C>A (p.Pro41Thr)
10	g.52771516A>C	CA469520624	MBL2	c.120T>G (p.Ser40=)
10	g.52771516A>G	CA469520625	MBL2	c.120T>C (p.Ser40=)	gnomAD v4
10	g.52771516A>T	CA469520626	MBL2	c.120T>A (p.Ser40=)
10	g.52771517G>A	CA376540093	MBL2	c.119C>T (p.Ser40Phe)	dbSNP gnomAD v2 gnomAD v4 COSMIC
10	g.52771517G>C	CA376540094	MBL2	c.119C>G (p.Ser40Cys)
10	g.52771517G=	CA1910259338	MBL2	c.119C= (p.Ser40=)
10	g.52771517G>T	CA376540092	MBL2	c.119C>A (p.Ser40Tyr)
10	g.52771518A=	CA1910259339	MBL2	c.118T= (p.Ser40=)
10	g.52771518A>C	CA5504432	MBL2	c.118T>G (p.Ser40Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771518A>G	CA376540095	MBL2	c.118T>C (p.Ser40Pro)	dbSNP
10	g.52771518A>T	CA376540096	MBL2	c.118T>A (p.Ser40Thr)
10	g.52771519G>A	CA5504433	MBL2	c.117C>T (p.Ser39=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771519G>C	CA376540097	MBL2	c.117C>G (p.Ser39Arg)
10	g.52771519G=	CA1910259340	MBL2	c.117C= (p.Ser39=)
10	g.52771519G>T	CA376540098	MBL2	c.117C>A (p.Ser39Arg)
10	g.52771520C>A	CA376540099	MBL2	c.116G>T (p.Ser39Ile)
10	g.52771520C=	CA1910259341	MBL2	c.116G= (p.Ser39=)
10	g.52771520C>G	CA376540100	MBL2	c.116G>C (p.Ser39Thr)	dbSNP gnomAD v3 gnomAD v4
10	g.52771520C>T	CA5504434	MBL2	c.116G>A (p.Ser39Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771520dup	CA2609210206	MBL2	c.116dup (p.Ser39ArgfsTer15)	gnomAD v4
10	g.52771521T>A	CA376540101	MBL2	c.115A>T (p.Ser39Cys)
10	g.52771521T>C	CA376540102	MBL2	c.115A>G (p.Ser39Gly)
10	g.52771521T>G	CA376540103	MBL2	c.115A>C (p.Ser39Arg)
10	g.52771522A=	CA1910259342	MBL2	c.114T= (p.Cys38=)
10	g.52771522A>C	CA376540105	MBL2	c.114T>G (p.Cys38Trp)
10	g.52771522A>G	CA5504435	MBL2	c.114T>C (p.Cys38=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771522A>T	CA376540104	MBL2	c.114T>A (p.Cys38Ter)
10	g.52771523C>A	CA376540106	MBL2	c.113G>T (p.Cys38Phe)
10	g.52771523C=	CA1910259343	MBL2	c.113G= (p.Cys38=)
10	g.52771523C>G	CA376540107	MBL2	c.113G>C (p.Cys38Ser)	gnomAD v4
10	g.52771523C>T	CA5504436	MBL2	c.113G>A (p.Cys38Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771524A>C	CA376540108	MBL2	c.112T>G (p.Cys38Gly)
10	g.52771524A>G	CA376540109	MBL2	c.112T>C (p.Cys38Arg)
10	g.52771524A>T	CA376540110	MBL2	c.112T>A (p.Cys38Ser)
10	g.52771525G>A	CA469520627	MBL2	c.111C>T (p.Ala37=)
10	g.52771525G>C	CA469520628	MBL2	c.111C>G (p.Ala37=)
10	g.52771525G=	CA1910259344	MBL2	c.111C= (p.Ala37=)
10	g.52771525G>T	CA469520629	MBL2	c.111C>A (p.Ala37=)	dbSNP gnomAD v2 gnomAD v4
10	g.52771526G>A	CA376540111	MBL2	c.110C>T (p.Ala37Val)	dbSNP gnomAD v4
10	g.52771526G>C	CA376540113	MBL2	c.110C>G (p.Ala37Gly)
10	g.52771526G=	CA1910259345	MBL2	c.110C= (p.Ala37=)
10	g.52771526G>T	CA376540112	MBL2	c.110C>A (p.Ala37Asp)
10	g.52771527C>A	CA207457372	MBL2	c.109G>T (p.Ala37Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10	g.52771527C=	CA1910259346	MBL2	c.109G= (p.Ala37=)
10	g.52771527C>G	CA376540114	MBL2	c.109G>C (p.Ala37Pro)
10	g.52771527C>T	CA376540115	MBL2	c.109G>A (p.Ala37Thr)
10	g.52771528A=	CA1910259347	MBL2	c.108T= (p.Ile36=)
10	g.52771528A>C	CA5504437	MBL2	c.108T>G (p.Ile36Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771528A>G	CA469520631	MBL2	c.108T>C (p.Ile36=)	gnomAD v4
10	g.52771528A>T	CA469520630	MBL2	c.108T>A (p.Ile36=)
10	g.52771529A>C	CA376540118	MBL2	c.107T>G (p.Ile36Ser)
10	g.52771529A>G	CA376540116	MBL2	c.107T>C (p.Ile36Thr)
10	g.52771529A>T	CA376540117	MBL2	c.107T>A (p.Ile36Asn)
10	g.52771530T>A	CA376540119	MBL2	c.106A>T (p.Ile36Phe)
10	g.52771530T>C	CA376540120	MBL2	c.106A>G (p.Ile36Val)
10	g.52771530T>G	CA376540121	MBL2	c.106A>C (p.Ile36Leu)
10	g.52771531C>A	CA469520632	MBL2	c.105G>T (p.Val35=)
10	g.52771531C>G	CA469520633	MBL2	c.105G>C (p.Val35=)
10	g.52771531C>T	CA469520634	MBL2	c.105G>A (p.Val35=)
10	g.52771532A>C	CA376540122	MBL2	c.104T>G (p.Val35Gly)
10	g.52771532A>G	CA376540123	MBL2	c.104T>C (p.Val35Ala)
10	g.52771532A>T	CA376540124	MBL2	c.104T>A (p.Val35Glu)
10	g.52771533C>A	CA376540126	MBL2	c.103G>T (p.Val35Leu)
10	g.52771533C=	CA1910259348	MBL2	c.103G= (p.Val35=)
10	g.52771533C>G	CA376540125	MBL2	c.103G>C (p.Val35Leu)
10	g.52771533C>T	CA5504438	MBL2	c.103G>A (p.Val35Met)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771534T>A	CA469520635	MBL2	c.102A>T (p.Ala34=)
10	g.52771534T>C	CA207457373	MBL2	c.102A>G (p.Ala34=)	dbSNP
10	g.52771534T>G	CA469520636	MBL2	c.102A>C (p.Ala34=)
10	g.52771534T=	CA1910259349	MBL2	c.102A= (p.Ala34=)
10	g.52771535G>A	CA376540127	MBL2	c.101C>T (p.Ala34Val)	dbSNP gnomAD v2 gnomAD v4
10	g.52771535G>C	CA376540128	MBL2	c.101C>G (p.Ala34Gly)
10	g.52771535G=	CA1910259350	MBL2	c.101C= (p.Ala34=)
10	g.52771535G>T	CA376540129	MBL2	c.101C>A (p.Ala34Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.52771536C>A	CA5504439	MBL2	c.100G>T (p.Ala34Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771536C=	CA1910259351	MBL2	c.100G= (p.Ala34=)
10	g.52771536C>G	CA376540130	MBL2	c.100G>C (p.Ala34Pro)
10	g.52771536C>T	CA376540131	MBL2	c.100G>A (p.Ala34Thr)	dbSNP gnomAD v4
10	g.52771537A=	CA1910259352	MBL2	c.99T= (p.Pro33=)
10	g.52771537A>C	CA469520637	MBL2	c.99T>G (p.Pro33=)	ClinVar dbSNP
10	g.52771537A>G	CA469520638	MBL2	c.99T>C (p.Pro33=)
10	g.52771537A>T	CA469520639	MBL2	c.99T>A (p.Pro33=)	dbSNP gnomAD v3 gnomAD v4
10	g.52771538G>A	CA376540132	MBL2	c.98C>T (p.Pro33Leu)	dbSNP gnomAD v2 gnomAD v4
10	g.52771538G>C	CA376540134	MBL2	c.98C>G (p.Pro33Arg)
10	g.52771538G=	CA1910259353	MBL2	c.98C= (p.Pro33=)
10	g.52771538G>T	CA376540133	MBL2	c.98C>A (p.Pro33His)
10	g.52771539G>A	CA376540135	MBL2	c.97C>T (p.Pro33Ser)	COSMIC
10	g.52771539G>C	CA376540136	MBL2	c.97C>G (p.Pro33Ala)
10	g.52771539G>T	CA376540137	MBL2	c.97C>A (p.Pro33Thr)
10	g.52771540G>A	CA469520640	MBL2	c.96C>T (p.Cys32=)	dbSNP gnomAD v4
10	g.52771540G>C	CA376540138	MBL2	c.96C>G (p.Cys32Trp)
10	g.52771540G=	CA1910259354	MBL2	c.96C= (p.Cys32=)
10	g.52771540G>T	CA376540139	MBL2	c.96C>A (p.Cys32Ter)
10	g.52771541C>A	CA207457374	MBL2	c.95G>T (p.Cys32Phe)	dbSNP gnomAD v4
10	g.52771541C=	CA1910259355	MBL2	c.95G= (p.Cys32=)
10	g.52771541C>G	CA376540140	MBL2	c.95G>C (p.Cys32Ser)
10	g.52771541C>T	CA376540141	MBL2	c.95G>A (p.Cys32Tyr)
10	g.52771542A=	CA1910259356	MBL2	c.94T= (p.Cys32=)
10	g.52771542A>C	CA376540142	MBL2	c.94T>G (p.Cys32Gly)
10	g.52771542A>G	CA5504440	MBL2	c.94T>C (p.Cys32Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771542A>T	CA376540143	MBL2	c.94T>A (p.Cys32Ser)	gnomAD v4
10	g.52771542_52771543delinsAG	CA1910259357	MBL2	c.93_94delinsCT (p.Thr31=)
10	g.52771543G>A	CA469520641	MBL2	c.93C>T (p.Thr31=)	gnomAD v4
10	g.52771543G>C	CA469520642	MBL2	c.93C>G (p.Thr31=)
10	g.52771543G=	CA1910259358	MBL2	c.93C= (p.Thr31=)
10	g.52771543G>T	CA5504441	MBL2	c.93C>A (p.Thr31=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771544del	CA1910259359	MBL2	c.93del (p.Cys32AlafsTer4)	dbSNP
10	g.52771544G>A	CA376540144	MBL2	c.92C>T (p.Thr31Ile)	dbSNP gnomAD v4
10	g.52771544G>C	CA376540146	MBL2	c.92C>G (p.Thr31Ser)
10	g.52771544G=	CA1910259360	MBL2	c.92C= (p.Thr31=)
10	g.52771544G>T	CA376540145	MBL2	c.92C>A (p.Thr31Asn)
10	g.52771545T>A	CA376540147	MBL2	c.91A>T (p.Thr31Ser)
10	g.52771545T>C	CA376540148	MBL2	c.91A>G (p.Thr31Ala)
10	g.52771545T>G	CA376540149	MBL2	c.91A>C (p.Thr31Pro)
10	g.52771546del	CA2609210207	MBL2	c.90del (p.Thr31ProfsTer5)	gnomAD v4
10	g.52771546C>A	CA376540150	MBL2	c.90G>T (p.Lys30Asn)
10	g.52771546C>G	CA376540151	MBL2	c.90G>C (p.Lys30Asn)
10	g.52771546C>T	CA469520643	MBL2	c.90G>A (p.Lys30=)	gnomAD v4
10	g.52771547T>A	CA376540152	MBL2	c.89A>T (p.Lys30Met)
10	g.52771547T>C	CA376540153	MBL2	c.89A>G (p.Lys30Arg)
10	g.52771547T>G	CA376540154	MBL2	c.89A>C (p.Lys30Thr)
10	g.52771548T>A	CA376540155	MBL2	c.88A>T (p.Lys30Ter)
10	g.52771548T>C	CA376540156	MBL2	c.88A>G (p.Lys30Glu)
10	g.52771548T>G	CA376540157	MBL2	c.88A>C (p.Lys30Gln)
10	g.52771549T>A	CA376540158	MBL2	c.87A>T (p.Gln29His)
10	g.52771549T>C	CA469520644	MBL2	c.87A>G (p.Gln29=)
10	g.52771549T>G	CA376540159	MBL2	c.87A>C (p.Gln29His)
10	g.52771550T>A	CA376540162	MBL2	c.86A>T (p.Gln29Leu)
10	g.52771550T>C	CA376540160	MBL2	c.86A>G (p.Gln29Arg)	dbSNP gnomAD v2 gnomAD v4
10	g.52771550T>G	CA376540161	MBL2	c.86A>C (p.Gln29Pro)
10	g.52771550T=	CA1910259361	MBL2	c.86A= (p.Gln29=)
10	g.52771551G>A	CA376540163	MBL2	c.85C>T (p.Gln29Ter)
10	g.52771551G>C	CA376540164	MBL2	c.85C>G (p.Gln29Glu)
10	g.52771551G>T	CA376540165	MBL2	c.85C>A (p.Gln29Lys)
10	g.52771552G>A	CA469520645	MBL2	c.84C>T (p.Ala28=)
10	g.52771552G>C	CA469520646	MBL2	c.84C>G (p.Ala28=)
10	g.52771552G>T	CA469520647	MBL2	c.84C>A (p.Ala28=)
10	g.52771553G>A	CA207457375	MBL2	c.83C>T (p.Ala28Val)	dbSNP gnomAD v4
10	g.52771553G>C	CA376540166	MBL2	c.83C>G (p.Ala28Gly)
10	g.52771553G=	CA1910259362	MBL2	c.83C= (p.Ala28=)
10	g.52771553G>T	CA376540167	MBL2	c.83C>A (p.Ala28Asp)
10	g.52771554C>A	CA376540168	MBL2	c.82G>T (p.Ala28Ser)	dbSNP gnomAD v3 gnomAD v4
10	g.52771554C=	CA1910259363	MBL2	c.82G= (p.Ala28=)
10	g.52771554C>G	CA376540169	MBL2	c.82G>C (p.Ala28Pro)
10	g.52771554C>T	CA376540170	MBL2	c.82G>A (p.Ala28Thr)	dbSNP gnomAD v3 gnomAD v4
10	g.52771555A=	CA1910259364	MBL2	c.81T= (p.Asp27=)
10	g.52771555A>C	CA376540171	MBL2	c.81T>G (p.Asp27Glu)	dbSNP
10	g.52771555A>G	CA469520648	MBL2	c.81T>C (p.Asp27=)	dbSNP
10	g.52771555A>T	CA376540172	MBL2	c.81T>A (p.Asp27Glu)
10	g.52771556T>A	CA376540173	MBL2	c.80A>T (p.Asp27Val)	dbSNP gnomAD v2 gnomAD v4
10	g.52771556T>C	CA376540175	MBL2	c.80A>G (p.Asp27Gly)
10	g.52771556T>G	CA376540174	MBL2	c.80A>C (p.Asp27Ala)
10	g.52771556T=	CA1910259365	MBL2	c.80A= (p.Asp27=)
10	g.52771557C>A	CA376540176	MBL2	c.79G>T (p.Asp27Tyr)
10	g.52771557C=	CA1910259366	MBL2	c.79G= (p.Asp27=)
10	g.52771557C>G	CA376540178	MBL2	c.79G>C (p.Asp27His)
10	g.52771557C>T	CA376540177	MBL2	c.79G>A (p.Asp27Asn)	dbSNP gnomAD v3 gnomAD v4
10	g.52771558del	CA2609210208	MBL2	c.79del (p.Asp27MetfsTer9)	gnomAD v4
10	g.52771558C>A	CA376540179	MBL2	c.78G>T (p.Glu26Asp)
10	g.52771558C=	CA1910259367	MBL2	c.78G= (p.Glu26=)
10	g.52771558C>G	CA376540180	MBL2	c.78G>C (p.Glu26Asp)
10	g.52771558C>T	CA469520649	MBL2	c.78G>A (p.Glu26=)	dbSNP gnomAD v4
10	g.52771559T>A	CA376540181	MBL2	c.77A>T (p.Glu26Val)
10	g.52771559T>C	CA376540182	MBL2	c.77A>G (p.Glu26Gly)
10	g.52771559T>G	CA376540183	MBL2	c.77A>C (p.Glu26Ala)
10	g.52771560C>A	CA376540184	MBL2	c.76G>T (p.Glu26Ter)
10	g.52771560C=	CA1910259368	MBL2	c.76G= (p.Glu26=)
10	g.52771560C>G	CA376540185	MBL2	c.76G>C (p.Glu26Gln)
10	g.52771560C>T	CA376540186	MBL2	c.76G>A (p.Glu26Lys)	dbSNP gnomAD v3 gnomAD v4
10	g.52771560_52771563dup	CA2609210209	MBL2	c.73_76dup (p.Glu26ValfsTer2)	gnomAD v4
10	g.52771561A>C	CA376540187	MBL2	c.75T>G (p.Cys25Trp)
10	g.52771561A>G	CA469520650	MBL2	c.75T>C (p.Cys25=)
10	g.52771561A>T	CA376540188	MBL2	c.75T>A (p.Cys25Ter)
10	g.52771562C>A	CA376540189	MBL2	c.74G>T (p.Cys25Phe)
10	g.52771562C=	CA1910259369	MBL2	c.74G= (p.Cys25=)
10	g.52771562C>G	CA207457376	MBL2	c.74G>C (p.Cys25Ser)	dbSNP gnomAD v4
10	g.52771562C>T	CA376540190	MBL2	c.74G>A (p.Cys25Tyr)
10	g.52771563A=	CA1910259370	MBL2	c.73T= (p.Cys25=)
10	g.52771563A>C	CA376540193	MBL2	c.73T>G (p.Cys25Gly)
10	g.52771563A>G	CA376540192	MBL2	c.73T>C (p.Cys25Arg)	dbSNP gnomAD v2 gnomAD v4
10	g.52771563A>T	CA376540191	MBL2	c.73T>A (p.Cys25Ser)
10	g.52771564G>A	CA469520653	MBL2	c.72C>T (p.Thr24=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771564G>C	CA469520652	MBL2	c.72C>G (p.Thr24=)
10	g.52771564G=	CA1910259371	MBL2	c.72C= (p.Thr24=)
10	g.52771564G>T	CA469520651	MBL2	c.72C>A (p.Thr24=)
10	g.52771565G>A	CA376540194	MBL2	c.71C>T (p.Thr24Ile)
10	g.52771565G>C	CA376540195	MBL2	c.71C>G (p.Thr24Ser)
10	g.52771565G>T	CA376540196	MBL2	c.71C>A (p.Thr24Asn)	COSMIC
10	g.52771566T>A	CA376540197	MBL2	c.70A>T (p.Thr24Ser)
10	g.52771566T>C	CA376540198	MBL2	c.70A>G (p.Thr24Ala)	COSMIC
10	g.52771566T>G	CA376540199	MBL2	c.70A>C (p.Thr24Pro)
10	g.52771567C>A	CA469520654	MBL2	c.69G>T (p.Val23=)
10	g.52771567C>G	CA469520655	MBL2	c.69G>C (p.Val23=)
10	g.52771567C>T	CA469520656	MBL2	c.69G>A (p.Val23=)	gnomAD v4

Number of alleles fetched