Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
10	g.52771616A>C	CA376540296	MBL2	c.20T>G (p.Leu7Arg)
10	g.52771616A>G	CA376540297	MBL2	c.20T>C (p.Leu7Pro)
10	g.52771616A>T	CA376540298	MBL2	c.20T>A (p.Leu7His)
10	g.52771617G>A	CA376540301	MBL2	c.19C>T (p.Leu7Phe)	gnomAD v4
10	g.52771617G>C	CA376540300	MBL2	c.19C>G (p.Leu7Val)
10	g.52771617G>T	CA376540299	MBL2	c.19C>A (p.Leu7Ile)
10	g.52771618T>A	CA469520704	MBL2	c.18A>T (p.Ser6=)
10	g.52771618T>C	CA469520705	MBL2	c.18A>G (p.Ser6=)
10	g.52771618T>G	CA469520706	MBL2	c.18A>C (p.Ser6=)
10	g.52771619G>A	CA376540302	MBL2	c.17C>T (p.Ser6Leu)	dbSNP
10	g.52771619G>C	CA376540303	MBL2	c.17C>G (p.Ser6Ter)
10	g.52771619G=	CA1910259400	MBL2	c.17C= (p.Ser6=)
10	g.52771619G>T	CA376540304	MBL2	c.17C>A (p.Ser6Ter)
10	g.52771620A>C	CA376540305	MBL2	c.16T>G (p.Ser6Ala)
10	g.52771620A>G	CA376540306	MBL2	c.16T>C (p.Ser6Pro)
10	g.52771620A>T	CA376540307	MBL2	c.16T>A (p.Ser6Thr)
10	g.52771621T>A	CA469520707	MBL2	c.15A>T (p.Pro5=)
10	g.52771621T>C	CA469520709	MBL2	c.15A>G (p.Pro5=)	dbSNP gnomAD v3 gnomAD v4
10	g.52771621T>G	CA469520708	MBL2	c.15A>C (p.Pro5=)
10	g.52771621T=	CA1910259401	MBL2	c.15A= (p.Pro5=)
10	g.52771622G>A	CA376540308	MBL2	c.14C>T (p.Pro5Leu)	dbSNP
10	g.52771622G>C	CA376540310	MBL2	c.14C>G (p.Pro5Arg)
10	g.52771622G>T	CA376540309	MBL2	c.14C>A (p.Pro5Gln)
10	g.52771623G>A	CA376540311	MBL2	c.13C>T (p.Pro5Ser)	dbSNP
10	g.52771623G>C	CA376540312	MBL2	c.13C>G (p.Pro5Ala)
10	g.52771623G=	CA1910259402	MBL2	c.13C= (p.Pro5=)
10	g.52771623G>T	CA376540313	MBL2	c.13C>A (p.Pro5Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771624A>C	CA376540314	MBL2	c.12T>G (p.Phe4Leu)
10	g.52771624A>G	CA469520710	MBL2	c.12T>C (p.Phe4=)
10	g.52771624A>T	CA376540315	MBL2	c.12T>A (p.Phe4Leu)
10	g.52771625A>C	CA376540316	MBL2	c.11T>G (p.Phe4Cys)
10	g.52771625A>G	CA376540317	MBL2	c.11T>C (p.Phe4Ser)
10	g.52771625A>T	CA376540318	MBL2	c.11T>A (p.Phe4Tyr)
10	g.52771626A>C	CA376540319	MBL2	c.10T>G (p.Phe4Val)
10	g.52771626A>G	CA376540320	MBL2	c.10T>C (p.Phe4Leu)	gnomAD v4
10	g.52771626A>T	CA376540321	MBL2	c.10T>A (p.Phe4Ile)
10	g.52771627C>A	CA469520711	MBL2	c.9G>T (p.Leu3=)
10	g.52771627C>G	CA469520712	MBL2	c.9G>C (p.Leu3=)
10	g.52771627C>T	CA469520713	MBL2	c.9G>A (p.Leu3=)
10	g.52771628del	CA2609210210	MBL2	c.8del (p.Leu3ArgfsTer10)	gnomAD v4
10	g.52771628A>C	CA376540322	MBL2	c.8T>G (p.Leu3Arg)
10	g.52771628A>G	CA376540324	MBL2	c.8T>C (p.Leu3Pro)
10	g.52771628A>T	CA376540323	MBL2	c.8T>A (p.Leu3Gln)
10	g.52771628_52771629del	CA645567356	MBL2	c.7_8del (p.Leu3ValfsTer23)	gnomAD v4 COSMIC
10	g.52771629G>A	CA207457380	MBL2	c.7C>T (p.Leu3=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771629G>C	CA376540325	MBL2	c.7C>G (p.Leu3Val)
10	g.52771629G=	CA1910259403	MBL2	c.7C= (p.Leu3=)
10	g.52771629G>T	CA376540326	MBL2	c.7C>A (p.Leu3Met)
10	g.52771630G>A	CA469520716	MBL2	c.6C>T (p.Ser2=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10	g.52771630G>C	CA469520715	MBL2	c.6C>G (p.Ser2=)
10	g.52771630G=	CA1910259404	MBL2	c.6C= (p.Ser2=)
10	g.52771630G>T	CA469520714	MBL2	c.6C>A (p.Ser2=)
10	g.52771631G>A	CA376540327	MBL2	c.5C>T (p.Ser2Phe)	gnomAD v4 COSMIC
10	g.52771631G>C	CA376540328	MBL2	c.5C>G (p.Ser2Cys)
10	g.52771631G>T	CA376540329	MBL2	c.5C>A (p.Ser2Tyr)	COSMIC
10	g.52771632A>C	CA376540330	MBL2	c.4T>G (p.Ser2Ala)
10	g.52771632A>G	CA376540331	MBL2	c.4T>C (p.Ser2Pro)
10	g.52771632A>T	CA376540332	MBL2	c.4T>A (p.Ser2Thr)
10	g.52771633C>A	CA376540333	MBL2	c.3G>T (p.Met1Ile)
10	g.52771633C=	CA1910259405	MBL2	c.3G= (p.Met1=)
10	g.52771633C>G	CA376540334	MBL2	c.3G>C (p.Met1Ile)	dbSNP
10	g.52771633C>T	CA376540335	MBL2	c.3G>A (p.Met1Ile)	gnomAD v4
10	g.52771634A=	CA1910259406	MBL2	c.2T= (p.Met1=)
10	g.52771634A>C	CA376540337	MBL2	c.2T>G (p.Met1Arg)
10	g.52771634A>G	CA5504452	MBL2	c.2T>C (p.Met1Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.52771634A>T	CA376540336	MBL2	c.2T>A (p.Met1Lys)

Number of alleles fetched