Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.52771512_52771520del	CA2609210205	MBL2	c.118_126del (p.Ser40_Gly42del)	gnomAD v4
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
10	g.52771568A=	CA1910259372	MBL2	c.68T= (p.Val23=)
10	g.52771568A>C	CA376540200	MBL2	c.68T>G (p.Val23Gly)	dbSNP
10	g.52771568A>G	CA376540201	MBL2	c.68T>C (p.Val23Ala)
10	g.52771568A>T	CA376540202	MBL2	c.68T>A (p.Val23Glu)
10	g.52771569C>A	CA376540203	MBL2	c.67G>T (p.Val23Leu)
10	g.52771569C>G	CA376540204	MBL2	c.67G>C (p.Val23Leu)
10	g.52771569C>T	CA376540205	MBL2	c.67G>A (p.Val23Met)
10	g.52771570A=	CA1910259373	MBL2	c.66T= (p.Thr22=)
10	g.52771570A>C	CA5504442	MBL2	c.66T>G (p.Thr22=)	dbSNP ExAC gnomAD v2
10	g.52771570A>G	CA469520658	MBL2	c.66T>C (p.Thr22=)
10	g.52771570A>T	CA469520659	MBL2	c.66T>A (p.Thr22=)
10	g.52771571G>A	CA5504443	MBL2	c.65C>T (p.Thr22Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771571G>C	CA376540207	MBL2	c.65C>G (p.Thr22Ser)
10	g.52771571G=	CA1910259374	MBL2	c.65C= (p.Thr22=)
10	g.52771571G>T	CA376540206	MBL2	c.65C>A (p.Thr22Asn)
10	g.52771571_52771572delinsGT	CA1910259375	MBL2	c.64_65delinsAC (p.Thr22=)
10	g.52771572T>A	CA376540208	MBL2	c.64A>T (p.Thr22Ser)
10	g.52771572T>C	CA376540209	MBL2	c.64A>G (p.Thr22Ala)
10	g.52771572T>G	CA376540210	MBL2	c.64A>C (p.Thr22Pro)
10	g.52771574del	CA207457377	MBL2	c.64del (p.Thr22LeufsTer2)	dbSNP
10	g.52771573T>A	CA376540211	MBL2	c.63A>T (p.Glu21Asp)
10	g.52771573T>C	CA469520660	MBL2	c.63A>G (p.Glu21=)
10	g.52771573T>G	CA376540212	MBL2	c.63A>C (p.Glu21Asp)
10	g.52771574T>A	CA376540213	MBL2	c.62A>T (p.Glu21Val)
10	g.52771574T>C	CA376540214	MBL2	c.62A>G (p.Glu21Gly)
10	g.52771574T>G	CA376540215	MBL2	c.62A>C (p.Glu21Ala)
10	g.52771575C>A	CA376540216	MBL2	c.61G>T (p.Glu21Ter)	COSMIC
10	g.52771575C>G	CA376540217	MBL2	c.61G>C (p.Glu21Gln)
10	g.52771575C>T	CA376540218	MBL2	c.61G>A (p.Glu21Lys)
10	g.52771576T>A	CA469520661	MBL2	c.60A>T (p.Ser20=)
10	g.52771576T>C	CA469520662	MBL2	c.60A>G (p.Ser20=)	gnomAD v4
10	g.52771576T>G	CA469520663	MBL2	c.60A>C (p.Ser20=)
10	g.52771577G>A	CA376540221	MBL2	c.59C>T (p.Ser20Leu)	gnomAD v4
10	g.52771577G>C	CA376540219	MBL2	c.59C>G (p.Ser20Ter)
10	g.52771577G=	CA1910259376	MBL2	c.59C= (p.Ser20=)
10	g.52771577G>T	CA376540220	MBL2	c.59C>A (p.Ser20Ter)
10	g.52771578A>C	CA376540222	MBL2	c.58T>G (p.Ser20Ala)
10	g.52771578A>G	CA376540223	MBL2	c.58T>C (p.Ser20Pro)
10	g.52771578A>T	CA376540224	MBL2	c.58T>A (p.Ser20Thr)
10	g.52771578_52771585dup	CA918675976	MBL2	c.51_58dup (p.Ser20CysfsTer7)	dbSNP gnomAD v4
10	g.52771579G>A	CA469520664	MBL2	c.57C>T (p.Tyr19=)
10	g.52771579G>C	CA376540225	MBL2	c.57C>G (p.Tyr19Ter)
10	g.52771579G>T	CA376540226	MBL2	c.57C>A (p.Tyr19Ter)	gnomAD v4
10	g.52771580T>A	CA376540227	MBL2	c.56A>T (p.Tyr19Phe)
10	g.52771580T>C	CA376540228	MBL2	c.56A>G (p.Tyr19Cys)
10	g.52771580T>G	CA376540229	MBL2	c.56A>C (p.Tyr19Ser)	gnomAD v4
10	g.52771581A>C	CA376540230	MBL2	c.55T>G (p.Tyr19Asp)
10	g.52771581A>G	CA376540231	MBL2	c.55T>C (p.Tyr19His)
10	g.52771581A>T	CA376540232	MBL2	c.55T>A (p.Tyr19Asn)
10	g.52771582A>C	CA469520667	MBL2	c.54T>G (p.Ser18=)
10	g.52771582A>G	CA469520665	MBL2	c.54T>C (p.Ser18=)
10	g.52771582A>T	CA469520666	MBL2	c.54T>A (p.Ser18=)
10	g.52771583G>A	CA376540235	MBL2	c.53C>T (p.Ser18Phe)
10	g.52771583G>C	CA376540234	MBL2	c.53C>G (p.Ser18Cys)
10	g.52771583G>T	CA376540233	MBL2	c.53C>A (p.Ser18Tyr)
10	g.52771584A>C	CA376540236	MBL2	c.52T>G (p.Ser18Ala)
10	g.52771584A>G	CA376540238	MBL2	c.52T>C (p.Ser18Pro)	gnomAD v4
10	g.52771584A>T	CA376540237	MBL2	c.52T>A (p.Ser18Thr)
10	g.52771585C>A	CA469520669	MBL2	c.51G>T (p.Ala17=)
10	g.52771585C=	CA1910259377	MBL2	c.51G= (p.Ala17=)
10	g.52771585C>G	CA469520670	MBL2	c.51G>C (p.Ala17=)
10	g.52771585C>T	CA5504444	MBL2	c.51G>A (p.Ala17=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771586G>A	CA5504445	MBL2	c.50C>T (p.Ala17Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10	g.52771586G>C	CA376540239	MBL2	c.50C>G (p.Ala17Gly)
10	g.52771586G=	CA1910259378	MBL2	c.50C= (p.Ala17=)
10	g.52771586G>T	CA376540240	MBL2	c.50C>A (p.Ala17Glu)	dbSNP
10	g.52771587C>A	CA376540241	MBL2	c.49G>T (p.Ala17Ser)
10	g.52771587C=	CA1910259379	MBL2	c.49G= (p.Ala17=)
10	g.52771587C>G	CA376540242	MBL2	c.49G>C (p.Ala17Pro)
10	g.52771587C>T	CA376540243	MBL2	c.49G>A (p.Ala17Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771588T>A	CA469520672	MBL2	c.48A>T (p.Ala16=)	COSMIC
10	g.52771588T>C	CA5504446	MBL2	c.48A>G (p.Ala16=)	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.52771588T>G	CA469520673	MBL2	c.48A>C (p.Ala16=)
10	g.52771588T=	CA1910259380	MBL2	c.48A= (p.Ala16=)
10	g.52771589G>A	CA376540244	MBL2	c.47C>T (p.Ala16Val)
10	g.52771589G>C	CA376540245	MBL2	c.47C>G (p.Ala16Gly)
10	g.52771589G>T	CA376540246	MBL2	c.47C>A (p.Ala16Glu)
10	g.52771590C>A	CA376540249	MBL2	c.46G>T (p.Ala16Ser)	gnomAD v4
10	g.52771590C>G	CA376540248	MBL2	c.46G>C (p.Ala16Pro)
10	g.52771590C>T	CA376540247	MBL2	c.46G>A (p.Ala16Thr)
10	g.52771590_52771591insACCAT	CA645567355	MBL2	c.45_46insATGGT (p.Ala16MetfsTer10)	COSMIC
10	g.52771591C>A	CA469520674	MBL2	c.45G>T (p.Val15=)
10	g.52771591C>G	CA469520675	MBL2	c.45G>C (p.Val15=)
10	g.52771591C>T	CA469520676	MBL2	c.45G>A (p.Val15=)
10	g.52771592A>C	CA376540250	MBL2	c.44T>G (p.Val15Gly)
10	g.52771592A>G	CA376540251	MBL2	c.44T>C (p.Val15Ala)	COSMIC
10	g.52771592A>T	CA376540252	MBL2	c.44T>A (p.Val15Glu)
10	g.52771593C>A	CA376540253	MBL2	c.43G>T (p.Val15Leu)
10	g.52771593C=	CA1910259381	MBL2	c.43G= (p.Val15=)
10	g.52771593C>G	CA376540254	MBL2	c.43G>C (p.Val15Leu)
10	g.52771593C>T	CA376540255	MBL2	c.43G>A (p.Val15Met)	dbSNP gnomAD v2 gnomAD v4
10	g.52771594C>A	CA376540256	MBL2	c.42G>T (p.Met14Ile)
10	g.52771594C>G	CA376540257	MBL2	c.42G>C (p.Met14Ile)
10	g.52771594C>T	CA376540258	MBL2	c.42G>A (p.Met14Ile)	gnomAD v4
10	g.52771595A=	CA1910259382	MBL2	c.41T= (p.Met14=)
10	g.52771595A>C	CA376540259	MBL2	c.41T>G (p.Met14Arg)
10	g.52771595A>G	CA376540260	MBL2	c.41T>C (p.Met14Thr)
10	g.52771595A>T	CA376540261	MBL2	c.41T>A (p.Met14Lys)	dbSNP gnomAD v4
10	g.52771596T>A	CA376540264	MBL2	c.40A>T (p.Met14Leu)
10	g.52771596T>C	CA376540263	MBL2	c.40A>G (p.Met14Val)	gnomAD v4
10	g.52771596T>G	CA376540262	MBL2	c.40A>C (p.Met14Leu)
10	g.52771597A>C	CA376540265	MBL2	c.39T>G (p.Ser13Arg)
10	g.52771597A>G	CA469520679	MBL2	c.39T>C (p.Ser13=)
10	g.52771597A>T	CA376540266	MBL2	c.39T>A (p.Ser13Arg)
10	g.52771598C>A	CA376540267	MBL2	c.38G>T (p.Ser13Ile)
10	g.52771598C=	CA1910259383	MBL2	c.38G= (p.Ser13=)
10	g.52771598C>G	CA376540268	MBL2	c.38G>C (p.Ser13Thr)
10	g.52771598C>T	CA376540269	MBL2	c.38G>A (p.Ser13Asn)	dbSNP
10	g.52771599T>A	CA376540272	MBL2	c.37A>T (p.Ser13Cys)
10	g.52771599T>C	CA376540271	MBL2	c.37A>G (p.Ser13Gly)
10	g.52771599T>G	CA376540270	MBL2	c.37A>C (p.Ser13Arg)
10	g.52771600C>A	CA469520680	MBL2	c.36G>T (p.Leu12=)
10	g.52771600C>G	CA469520682	MBL2	c.36G>C (p.Leu12=)
10	g.52771600C>T	CA469520681	MBL2	c.36G>A (p.Leu12=)
10	g.52771600_52771601delinsCA	CA1910259386	MBL2	c.35_36delinsTG (p.Leu12=)
10	g.52771600_52771602delinsCAG	CA1910259385	MBL2	c.34_36delinsCTG (p.Leu12=)
10	g.52771600_52771603delinsCAGG	CA1910259384	MBL2	c.33_36delinsCCTG (p.Leu11=)
10	g.52771601del	CA918675977	MBL2	c.35del (p.Leu12ArgfsTer12)	dbSNP
10	g.52771601A=	CA1910259388	MBL2	c.35T= (p.Leu12=)
10	g.52771601A>C	CA5504447	MBL2	c.35T>G (p.Leu12Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771601A>G	CA207457378	MBL2	c.35T>C (p.Leu12Pro)	dbSNP
10	g.52771601A>T	CA376540273	MBL2	c.35T>A (p.Leu12Gln)
10	g.52771601_52771602delinsC	CA918675978	MBL2	c.34_35delinsG (p.Leu12GlyfsTer12)	dbSNP
10	g.52771601_52771602delinsAG	CA1910259389	MBL2	c.34_35delinsCT (p.Leu12=)
10	g.52771603_52771605del	CA1910259387	MBL2	c.33_35del (p.Leu12del)	dbSNP
10	g.52771602G>A	CA469520683	MBL2	c.34C>T (p.Leu12=)
10	g.52771602G>C	CA5504448	MBL2	c.34C>G (p.Leu12Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771602G=	CA1910259390	MBL2	c.34C= (p.Leu12=)
10	g.52771602G>T	CA376540274	MBL2	c.34C>A (p.Leu12Met)
10	g.52771603del	CA918675979	MBL2	c.34del (p.Leu12Ter)	dbSNP
10	g.52771602_52771603insAAACT	CA2788008312	MBL2	c.33_34insAGTTT (p.Leu12SerfsTer3)
10	g.52771603G>A	CA469520684	MBL2	c.33C>T (p.Leu11=)	gnomAD v4
10	g.52771603G>C	CA469520685	MBL2	c.33C>G (p.Leu11=)
10	g.52771603G>T	CA469520686	MBL2	c.33C>A (p.Leu11=)
10	g.52771603_52771606delinsGAGA	CA1910259391	MBL2	c.30_33delinsTCTC (p.Leu10=)
10	g.52771604A>C	CA376540277	MBL2	c.32T>G (p.Leu11Arg)	COSMIC
10	g.52771604A>G	CA376540275	MBL2	c.32T>C (p.Leu11Pro)
10	g.52771604A>T	CA376540276	MBL2	c.32T>A (p.Leu11His)
10	g.52771606_52771608dup	CA1910259392	MBL2	c.30_32dup (p.Leu11_Leu12insLeu)	dbSNP
10	g.52771606_52771608del	CA5504449	MBL2	c.30_32del (p.Leu11del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10	g.52771605G>A	CA376540278	MBL2	c.31C>T (p.Leu11Phe)
10	g.52771605G>C	CA376540279	MBL2	c.31C>G (p.Leu11Val)
10	g.52771605G>T	CA376540280	MBL2	c.31C>A (p.Leu11Ile)
10	g.52771606A=	CA1910259393	MBL2	c.30T= (p.Leu10=)
10	g.52771606A>C	CA469520688	MBL2	c.30T>G (p.Leu10=)	COSMIC
10	g.52771606A>G	CA469520690	MBL2	c.30T>C (p.Leu10=)	dbSNP gnomAD v3 gnomAD v4
10	g.52771606A>T	CA469520689	MBL2	c.30T>A (p.Leu10=)
10	g.52771607A=	CA1910259394	MBL2	c.29T= (p.Leu10=)
10	g.52771607A>C	CA376540281	MBL2	c.29T>G (p.Leu10Arg)
10	g.52771607A>G	CA5504450	MBL2	c.29T>C (p.Leu10Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771607A>T	CA376540282	MBL2	c.29T>A (p.Leu10His)
10	g.52771608G>A	CA376540283	MBL2	c.28C>T (p.Leu10Phe)	dbSNP gnomAD v3 gnomAD v4 COSMIC
10	g.52771608G>C	CA376540284	MBL2	c.28C>G (p.Leu10Val)
10	g.52771608G=	CA1910259395	MBL2	c.28C= (p.Leu10=)
10	g.52771608G>T	CA376540285	MBL2	c.28C>A (p.Leu10Ile)
10	g.52771609G>A	CA469520694	MBL2	c.27C>T (p.Leu9=)	COSMIC
10	g.52771609G>C	CA469520695	MBL2	c.27C>G (p.Leu9=)
10	g.52771609G>T	CA469520696	MBL2	c.27C>A (p.Leu9=)	COSMIC
10	g.52771610A=	CA1910259396	MBL2	c.26T= (p.Leu9=)
10	g.52771610A>C	CA376540286	MBL2	c.26T>G (p.Leu9Arg)
10	g.52771610A>G	CA207457379	MBL2	c.26T>C (p.Leu9Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771610A>T	CA376540287	MBL2	c.26T>A (p.Leu9His)
10	g.52771611G>A	CA376540288	MBL2	c.25C>T (p.Leu9Phe)	dbSNP gnomAD v2 gnomAD v4
10	g.52771611G>C	CA376540290	MBL2	c.25C>G (p.Leu9Val)
10	g.52771611G=	CA1910259397	MBL2	c.25C= (p.Leu9=)
10	g.52771611G>T	CA376540289	MBL2	c.25C>A (p.Leu9Ile)
10	g.52771612A>C	CA469520697	MBL2	c.24T>G (p.Pro8=)
10	g.52771612A>G	CA469520698	MBL2	c.24T>C (p.Pro8=)
10	g.52771612A>T	CA469520699	MBL2	c.24T>A (p.Pro8=)
10	g.52771613G>A	CA376540291	MBL2	c.23C>T (p.Pro8Leu)	dbSNP gnomAD v2 gnomAD v4
10	g.52771613G>C	CA376540293	MBL2	c.23C>G (p.Pro8Arg)	dbSNP gnomAD v2 gnomAD v4
10	g.52771613G=	CA1910259398	MBL2	c.23C= (p.Pro8=)
10	g.52771613G>T	CA376540292	MBL2	c.23C>A (p.Pro8His)	gnomAD v4
10	g.52771614G>A	CA5504451	MBL2	c.22C>T (p.Pro8Ser)	dbSNP ExAC gnomAD v3 gnomAD v4
10	g.52771614G>C	CA376540294	MBL2	c.22C>G (p.Pro8Ala)
10	g.52771614G=	CA1910259399	MBL2	c.22C= (p.Pro8=)
10	g.52771614G>T	CA376540295	MBL2	c.22C>A (p.Pro8Thr)
10	g.52771615G>A	CA469520702	MBL2	c.21C>T (p.Leu7=)
10	g.52771615G>C	CA469520701	MBL2	c.21C>G (p.Leu7=)
10	g.52771615G>T	CA469520700	MBL2	c.21C>A (p.Leu7=)	gnomAD v4

Number of alleles fetched