Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.149569884_149569889del	CA758703085	MMADHC	c.88_93del (n.88_93del)	dbSNP gnomAD v3 gnomAD v4
2	g.149569890T>C	CA58332352	MMADHC	c.84A>G (n.84A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569890T>G	CA2661422135	MMADHC	c.84A>C (n.84A>C)	gnomAD v4
2	g.149569890T=	CA1297264225	MMADHC	c.84A= (n.84A=)
2	g.149569891T>G	CA2661422136	MMADHC	c.83A>C (n.83A>C)	gnomAD v4
2	g.149569893T>A	CA758703097	MMADHC	c.81A>T (n.81A>T)	dbSNP
2	g.149569893T=	CA1297264226	MMADHC	c.81A= (n.81A=)
2	g.149569894A>T	CA2661422139	MMADHC	c.80T>A (n.80T>A)	gnomAD v4
2	g.149569898del	CA2661422137	MMADHC	c.80del (n.80del)	gnomAD v4
2	g.149569897_149569898del	CA2661422138	MMADHC	c.79_80del (n.79_80del)	gnomAD v4
2	g.149569898A>T	CA2661422140	MMADHC	c.76T>A (n.76T>A)	gnomAD v4
2	g.149569899C>A	CA2661422141	MMADHC	c.75G>T (n.75G>T)	gnomAD v4
2	g.149569899C>G	CA2661422142	MMADHC	c.75G>C (n.75G>C)	gnomAD v4
2	g.149569899C>T	CA2661422143	MMADHC	c.75G>A (n.75G>A)	gnomAD v4
2	g.149569901T>A	CA2518218522	MMADHC	c.73A>T (n.73A>T)
2	g.149569901T>G	CA2661422144	MMADHC	c.73A>C (n.73A>C)	gnomAD v4
2	g.149569902T>A	CA2567383926	MMADHC	c.72A>T (n.72A>T)
2	g.149569902T>C	CA1037732289	MMADHC	c.72A>G (n.72A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.149569902T>G	CA2661422145	MMADHC	c.72A>C (n.72A>C)	gnomAD v4
2	g.149569902T=	CA1297264227	MMADHC	c.72A= (n.72A=)
2	g.149569903A>G	CA2661422146	MMADHC	c.71T>C (n.71T>C)	gnomAD v4
2	g.149569903A>T	CA2577116918	MMADHC	c.71T>A (n.71T>A)	gnomAD v4
2	g.149569904G>A	CA2661422147	MMADHC	c.70C>T (n.70C>T)	gnomAD v4
2	g.149569904G>T	CA2661422148	MMADHC	c.70C>A (n.70C>A)	gnomAD v4
2	g.149569906C>A	CA2661422149	MMADHC	c.68G>T (n.68G>T)	gnomAD v4
2	g.149569906C=	CA1297264228	MMADHC	c.68G= (n.68G=)
2	g.149569906C>G	CA2661422150	MMADHC	c.68G>C (n.68G>C)	gnomAD v4
2	g.149569906C>T	CA58332353	MMADHC	c.68G>A (n.68G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569907T>A	CA1037732292	MMADHC	c.67A>T (n.67A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.149569907T>C	CA2661422151	MMADHC	c.67A>G (n.67A>G)	gnomAD v4
2	g.149569907T=	CA1297264229	MMADHC	c.67A= (n.67A=)
2	g.149569908G>A	CA1037732293	MMADHC	c.66C>T (n.66C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.149569908G>C	CA2661422152	MMADHC	c.66C>G (n.66C>G)	gnomAD v4
2	g.149569908G=	CA1297264230	MMADHC	c.66C= (n.66C=)
2	g.149569908G>T	CA2501272783	MMADHC	c.66C>A (n.66C>A)	gnomAD v4
2	g.149569909A>C	CA2661422153	MMADHC	c.65T>G (n.65T>G)	gnomAD v4
2	g.149569910C>A	CA2661422154	MMADHC	c.64G>T (n.64G>T)	gnomAD v4
2	g.149569910C>T	CA2661422155	MMADHC	c.64G>A (n.64G>A)	gnomAD v4
2	g.149569912G>A	CA1297264232	MMADHC	c.62C>T (n.62C>T)	dbSNP gnomAD v4
2	g.149569912G>C	CA2661422157	MMADHC	c.62C>G (n.62C>G)	gnomAD v4
2	g.149569912G=	CA1297264231	MMADHC	c.62C= (n.62C=)
2	g.149569912G>T	CA2661422156	MMADHC	c.62C>A (n.62C>A)	gnomAD v4
2	g.149569914_149569915del	CA2661422158	MMADHC	c.61_62del (n.61_62del)	gnomAD v4
2	g.149569913T>C	CA2661422159	MMADHC	c.61A>G (n.61A>G)	gnomAD v4
2	g.149569913_149569917del	CA2661422160	MMADHC	c.57_61del (n.57_61del)	gnomAD v4
2	g.149569914_149569917dup	CA1297264233	MMADHC	c.58_61dup (n.58_61dup)	dbSNP gnomAD v3 gnomAD v4
2	g.149569914G>T	CA2577116919	MMADHC	c.60C>A (n.60C>A)	gnomAD v4
2	g.149569915T>G	CA2661422161	MMADHC	c.59A>C (n.59A>C)	gnomAD v4
2	g.149569916T>A	CA2661422162	MMADHC	c.58A>T (n.58A>T)	gnomAD v4
2	g.149569919T>C	CA58332354	MMADHC	c.55A>G (n.55A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569919T=	CA1297264234	MMADHC	c.55A= (n.55A=)
2	g.149569920A>G	CA2661422163	MMADHC	c.54T>C (n.54T>C)	gnomAD v4
2	g.149569921del	CA2661422164	MMADHC	c.53del (n.53del)	gnomAD v4
2	g.149569921G>A	CA2577116920	MMADHC	c.53C>T (n.53C>T)	gnomAD v4
2	g.149569921G>C	CA2661422165	MMADHC	c.53C>G (n.53C>G)	gnomAD v4
2	g.149569921G>T	CA2661422166	MMADHC	c.53C>A (n.53C>A)	gnomAD v4
2	g.149569922A>G	CA2661422167	MMADHC	c.52T>C (n.52T>C)	gnomAD v4
2	g.149569923T>A	CA537032325	MMADHC	c.51A>T (n.51A>T)	dbSNP gnomAD v2
2	g.149569923T>C	CA2577116921	MMADHC	c.51A>G (n.51A>G)
2	g.149569923T>G	CA1037732300	MMADHC	c.51A>C (n.51A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.149569923T=	CA1297264235	MMADHC	c.51A= (n.51A=)
2	g.149569925A>C	CA2661422168	MMADHC	c.49T>G (n.49T>G)	gnomAD v4
2	g.149569926A>G	CA2661422169	MMADHC	c.48T>C (n.48T>C)	gnomAD v4
2	g.149569928_149569941delinsCCAAATATTACATA	CA1297264236	MMADHC	c.33_46delinsTATGTAATATTTGG (n.33_46delinsTATGTAATATTTGG)
2	g.149569929C>A	CA537032326	MMADHC	c.45G>T (n.45G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.149569929C=	CA1297264237	MMADHC	c.45G= (n.45G=)
2	g.149569929C>G	CA2661422170	MMADHC	c.45G>C (n.45G>C)	gnomAD v4
2	g.149569935_149569947del	CA1902233	MMADHC	c.33_45del (n.33_45del)	dbSNP ExAC gnomAD v2
2	g.149569932A=	CA1297264238	MMADHC	c.42T= (n.42T=)
2	g.149569932A>C	CA1902234	MMADHC	c.42T>G (n.42T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569934del	CA2577116922	MMADHC	c.40del (n.40del)
2	g.149569935T>C	CA537032327	MMADHC	c.39A>G (n.39A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.149569935T=	CA1297264239	MMADHC	c.39A= (n.39A=)
2	g.149569936T>C	CA537032328	MMADHC	c.38A>G (n.38A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.149569936T=	CA1297264240	MMADHC	c.38A= (n.38A=)
2	g.149569938C=	CA1297264241	MMADHC	c.36G= (n.36G=)
2	g.149569938C>G	CA2577116923	MMADHC	c.36G>C (n.36G>C)
2	g.149569938C>T	CA1037732303	MMADHC	c.36G>A (n.36G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.149569939A=	CA1297264242	MMADHC	c.35T= (n.35T=)
2	g.149569939A>G	CA537032329	MMADHC	c.35T>C (n.35T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569941A>C	CA2661422171	MMADHC	c.33T>G (n.33T>G)	gnomAD v4
2	g.149569944A=	CA1297264243	MMADHC	c.30T= (n.30T=)
2	g.149569944A>G	CA58332355	MMADHC	c.30T>C (n.30T>C)	dbSNP
2	g.149569945A=	CA1297264244	MMADHC	c.29T= (n.29T=)
2	g.149569945A>C	CA1902235	MMADHC	c.29T>G (n.29T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149569945A>G	CA2661422172	MMADHC	c.29T>C (n.29T>C)	gnomAD v4
2	g.149569946T>C	CA1297264246	MMADHC	c.28A>G (n.28A>G)	dbSNP gnomAD v4
2	g.149569946T>G	CA2661422173	MMADHC	c.28A>C (n.28A>C)	gnomAD v4
2	g.149569946T=	CA1297264245	MMADHC	c.28A= (n.28A=)
2	g.149569948G>A	CA1902236	MMADHC	c.26C>T (n.26C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569948G>C	CA2577116924	MMADHC	c.26C>G (n.26C>G)
2	g.149569948G=	CA1297264247	MMADHC	c.26C= (n.26C=)
2	g.149569951C=	CA1297264248	MMADHC	c.23G= (n.23G=)
2	g.149569951C>T	CA1297264249	MMADHC	c.23G>A (n.23G>A)	dbSNP
2	g.149569952A=	CA1297264250	MMADHC	c.22T= (n.22T=)
2	g.149569952A>C	CA2700749475	MMADHC	c.22T>G (n.22T>G)	dbSNP
2	g.149569952A>G	CA537032330	MMADHC	c.22T>C (n.22T>C)	dbSNP gnomAD v2
2	g.149569952A>T	CA2661422174	MMADHC	c.22T>A (n.22T>A)	gnomAD v4
2	g.149569953G>A	CA2661422175	MMADHC	c.21C>T (n.21C>T)	gnomAD v4
2	g.149569959G>A	CA1902237	MMADHC	c.15C>T (n.15C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149569959G=	CA1297264251	MMADHC	c.15C= (n.15C=)
2	g.149569960A>G	CA2661422176	MMADHC	c.14T>C (n.14T>C)	gnomAD v4
2	g.149569962T>A	CA2700754987	MMADHC	c.12A>T (n.12A>T)	dbSNP
2	g.149569962T>C	CA1297264253	MMADHC	c.12A>G (n.12A>G)	dbSNP
2	g.149569962T=	CA1297264252	MMADHC	c.12A= (n.12A=)
2	g.149569963G>A	CA1297264255	MMADHC	c.11C>T (n.11C>T)	dbSNP gnomAD v4
2	g.149569963G=	CA1297264254	MMADHC	c.11C= (n.11C=)
2	g.149569965A=	CA1297264256	MMADHC	c.9T= (n.9T=)
2	g.149569965A>C	CA758703119	MMADHC	c.9T>G (n.9T>G)	dbSNP gnomAD v4
2	g.149569965A>G	CA1902238	MMADHC	c.9T>C (n.9T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149569967A=	CA1297264257	MMADHC	c.7T= (n.7T=)
2	g.149569967A>G	CA1902239	MMADHC	c.7T>C (n.7T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569967_149569968delinsAT	CA1297264258	MMADHC	c.6_7delinsAT (n.6_7delinsAT)
2	g.149569968T>C	CA758703129	MMADHC	c.6A>G (n.6A>G)	dbSNP gnomAD v4
2	g.149569968T>G	CA537032332	MMADHC	c.6A>C (n.6A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569968T=	CA1297264259	MMADHC	c.6A= (n.6A=)
2	g.149569970del	CA537032331	MMADHC	c.6del (n.6del)	dbSNP gnomAD v2 gnomAD v4
2	g.149569969T>G	CA2577116925	MMADHC	c.5A>C (n.5A>C)
2	g.149569970_149569973delinsTCTG	CA1297264260	MMADHC	c.1_4delinsCAGA (n.1_4delinsCAGA)
2	g.149569971C=	CA1297264262	MMADHC	c.3G= (n.3G=)
2	g.149569971C>G	CA2661422177	MMADHC	c.3G>C (n.3G>C)	gnomAD v4
2	g.149569971C>T	CA1902240	MMADHC	c.3G>A (n.3G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569973_149569975del	CA1297264261	MMADHC	c.1_3del (n.1_3del)	dbSNP
2	g.149569973G>A	CA1902241	MMADHC	c.1C>T (n.1C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149569973G=	CA1297264263	MMADHC	c.1C= (n.1C=)
2	g.149569974C>A	CA348868675	MMADHC	c.891G>T (p.Ter297Tyr) c.993G>T (p.Ter331Tyr)
2	g.149569974C>G	CA348868676	MMADHC	c.891G>C (p.Ter297Tyr) c.993G>C (p.Ter331Tyr)
2	g.149569974C>T	CA429405848	MMADHC	c.891G>A (p.Ter297=) c.993G>A (p.Ter331=)	ClinVar gnomAD v4
2	g.149569975T>A	CA348868678	MMADHC	c.890A>T (p.Ter297Leu) c.992A>T (p.Ter331Leu)
2	g.149569975T>C	CA348868679	MMADHC	c.890A>G (p.Ter297Trp) c.992A>G (p.Ter331Trp)
2	g.149569975T>G	CA348868677	MMADHC	c.890A>C (p.Ter297Ser) c.992A>C (p.Ter331Ser)
2	g.149569976A=	CA1297264264	MMADHC	c.889T= (p.Ter297=) c.991T= (p.Ter331=)
2	g.149569976A>C	CA348868680	MMADHC	c.889T>G (p.Ter297Glu) c.991T>G (p.Ter331Glu)
2	g.149569976A>G	CA1902242	MMADHC	c.889T>C (p.Ter297Gln) c.991T>C (p.Ter331Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149569976A>T	CA348868681	MMADHC	c.889T>A (p.Ter297Lys) c.991T>A (p.Ter331Lys)
2	g.149569977A>C	CA348868682	MMADHC	c.888T>G (p.Asn296Lys) c.990T>G (p.Asn330Lys)
2	g.149569977A>G	CA429405849	MMADHC	c.888T>C (p.Asn296=) c.990T>C (p.Asn330=)
2	g.149569977A>T	CA348868683	MMADHC	c.888T>A (p.Asn296Lys) c.990T>A (p.Asn330Lys)
2	g.149569978T>A	CA348868684	MMADHC	c.887A>T (p.Asn296Ile) c.989A>T (p.Asn330Ile)
2	g.149569978T>C	CA348868685	MMADHC	c.887A>G (p.Asn296Ser) c.989A>G (p.Asn330Ser)
2	g.149569978T>G	CA348868686	MMADHC	c.887A>C (p.Asn296Thr) c.989A>C (p.Asn330Thr)
2	g.149569979T>A	CA348868687	MMADHC	c.886A>T (p.Asn296Tyr) c.988A>T (p.Asn330Tyr)
2	g.149569979T>C	CA348868688	MMADHC	c.886A>G (p.Asn296Asp) c.988A>G (p.Asn330Asp)
2	g.149569979T>G	CA348868689	MMADHC	c.886A>C (p.Asn296His) c.988A>C (p.Asn330His)
2	g.149569980T>A	CA429405850	MMADHC	c.885A>T (p.Gly295=) c.987A>T (p.Gly329=)
2	g.149569980T>C	CA1902243	MMADHC	c.885A>G (p.Gly295=) c.987A>G (p.Gly329=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149569980T>G	CA429405851	MMADHC	c.885A>C (p.Gly295=) c.987A>C (p.Gly329=)	ClinVar dbSNP
2	g.149569980T=	CA1297264265	MMADHC	c.885A= (p.Gly295=) c.987A= (p.Gly329=)
2	g.149569981C>A	CA348868692	MMADHC	c.884G>T (p.Gly295Val) c.986G>T (p.Gly329Val)
2	g.149569981C>G	CA348868690	MMADHC	c.884G>C (p.Gly295Ala) c.986G>C (p.Gly329Ala)
2	g.149569981C>T	CA348868691	MMADHC	c.884G>A (p.Gly295Glu) c.986G>A (p.Gly329Glu)
2	g.149569982C>A	CA348868693	MMADHC	c.883G>T (p.Gly295Ter) c.985G>T (p.Gly329Ter)
2	g.149569982C>G	CA348868694	MMADHC	c.883G>C (p.Gly295Arg) c.985G>C (p.Gly329Arg)
2	g.149569982C>T	CA348868695	MMADHC	c.883G>A (p.Gly295Arg) c.985G>A (p.Gly329Arg)
2	g.149569983A=	CA1297264266	MMADHC	c.882T= (p.Ser294=) c.984T= (p.Ser328=)
2	g.149569983A>C	CA348868696	MMADHC	c.882T>G (p.Ser294Arg) c.984T>G (p.Ser328Arg)
2	g.149569983A>G	CA429405852	MMADHC	c.882T>C (p.Ser294=) c.984T>C (p.Ser328=)
2	g.149569983A>T	CA1902244	MMADHC	c.882T>A (p.Ser294Arg) c.984T>A (p.Ser328Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149569984C>A	CA348868697	MMADHC	c.881G>T (p.Ser294Ile) c.983G>T (p.Ser328Ile)
2	g.149569984C>G	CA348868698	MMADHC	c.881G>C (p.Ser294Thr) c.983G>C (p.Ser328Thr)
2	g.149569984C>T	CA348868699	MMADHC	c.881G>A (p.Ser294Asn) c.983G>A (p.Ser328Asn)
2	g.149569985T>A	CA348868700	MMADHC	c.880A>T (p.Ser294Cys) c.982A>T (p.Ser328Cys)
2	g.149569985T>C	CA348868701	MMADHC	c.880A>G (p.Ser294Gly) c.982A>G (p.Ser328Gly)
2	g.149569985T>G	CA348868702	MMADHC	c.880A>C (p.Ser294Arg) c.982A>C (p.Ser328Arg)
2	g.149569986T>A	CA348868703	MMADHC	c.879A>T (p.Leu293Phe) c.981A>T (p.Leu327Phe)
2	g.149569986T>C	CA429405853	MMADHC	c.879A>G (p.Leu293=) c.981A>G (p.Leu327=)
2	g.149569986T>G	CA348868704	MMADHC	c.879A>C (p.Leu293Phe) c.981A>C (p.Leu327Phe)
2	g.149569987A>C	CA348868706	MMADHC	c.878T>G (p.Leu293Ter) c.980T>G (p.Leu327Ter)
2	g.149569987A>G	CA348868707	MMADHC	c.878T>C (p.Leu293Ser) c.980T>C (p.Leu327Ser)
2	g.149569987A>T	CA348868705	MMADHC	c.878T>A (p.Leu293Ter) c.980T>A (p.Leu327Ter)
2	g.149569988A=	CA1297264267	MMADHC	c.877T= (p.Leu293=) c.979T= (p.Leu327=)
2	g.149569988A>C	CA348868709	MMADHC	c.877T>G (p.Leu293Val) c.979T>G (p.Leu327Val)
2	g.149569988A>G	CA429405854	MMADHC	c.877T>C (p.Leu293=) c.979T>C (p.Leu327=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.149569988A>T	CA348868708	MMADHC	c.877T>A (p.Leu293Ile) c.979T>A (p.Leu327Ile)
2	g.149569988_149569989delinsAT	CA1297264268	MMADHC	c.876_877delinsAT (p.Lys292=) c.978_979delinsAT (p.Lys326=)
2	g.149569989T>A	CA348868710	MMADHC	c.876A>T (p.Lys292Asn) c.978A>T (p.Lys326Asn)
2	g.149569989T>C	CA429405855	MMADHC	c.876A>G (p.Lys292=) c.978A>G (p.Lys326=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.149569989T>G	CA348868711	MMADHC	c.876A>C (p.Lys292Asn) c.978A>C (p.Lys326Asn)
2	g.149569989T=	CA1297264269	MMADHC	c.876A= (p.Lys292=) c.978A= (p.Lys326=)
2	g.149569991del	CA1037732312	MMADHC	c.876del (p.Lys292AsnfsTer2) c.978del (p.Lys326AsnfsTer2)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched