Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
2	g.149569990T>A	CA348868712	MMADHC	c.875A>T (p.Lys292Ile) c.977A>T (p.Lys326Ile)
2	g.149569990T>C	CA348868713	MMADHC	c.875A>G (p.Lys292Arg) c.977A>G (p.Lys326Arg)
2	g.149569990T>G	CA348868714	MMADHC	c.875A>C (p.Lys292Thr) c.977A>C (p.Lys326Thr)
2	g.149569993_149569995dup	CA1902245	MMADHC	c.873_875dup (p.Lys292_Leu293insLys) c.975_977dup (p.Lys326_Leu327insLys)	dbSNP ExAC gnomAD v2
2	g.149569991T>A	CA348868715	MMADHC	c.874A>T (p.Lys292Ter) c.976A>T (p.Lys326Ter)
2	g.149569991T>C	CA348868716	MMADHC	c.874A>G (p.Lys292Glu) c.976A>G (p.Lys326Glu)
2	g.149569991T>G	CA348868717	MMADHC	c.874A>C (p.Lys292Gln) c.976A>C (p.Lys326Gln)
2	g.149569992C>A	CA348868718	MMADHC	c.873G>T (p.Lys291Asn) c.975G>T (p.Lys325Asn)
2	g.149569992C>G	CA348868719	MMADHC	c.873G>C (p.Lys291Asn) c.975G>C (p.Lys325Asn)
2	g.149569992C>T	CA429405857	MMADHC	c.873G>A (p.Lys291=) c.975G>A (p.Lys325=)
2	g.149569993T>A	CA348868721	MMADHC	c.872A>T (p.Lys291Met) c.974A>T (p.Lys325Met)
2	g.149569993T>C	CA348868722	MMADHC	c.872A>G (p.Lys291Arg) c.974A>G (p.Lys325Arg)
2	g.149569993T>G	CA348868720	MMADHC	c.872A>C (p.Lys291Thr) c.974A>C (p.Lys325Thr)
2	g.149569994T>A	CA348868723	MMADHC	c.871A>T (p.Lys291Ter) c.973A>T (p.Lys325Ter)
2	g.149569994T>C	CA348868724	MMADHC	c.871A>G (p.Lys291Glu) c.973A>G (p.Lys325Glu)
2	g.149569994T>G	CA348868725	MMADHC	c.871A>C (p.Lys291Gln) c.973A>C (p.Lys325Gln)
2	g.149569995C>A	CA348868726	MMADHC	c.870G>T (p.Met290Ile) c.972G>T (p.Met324Ile)
2	g.149569995C>G	CA348868727	MMADHC	c.870G>C (p.Met290Ile) c.972G>C (p.Met324Ile)
2	g.149569995C>T	CA348868728	MMADHC	c.870G>A (p.Met290Ile) c.972G>A (p.Met324Ile)	COSMIC
2	g.149569996A=	CA1297264270	MMADHC	c.869T= (p.Met290=) c.971T= (p.Met324=)
2	g.149569996A>C	CA348868729	MMADHC	c.869T>G (p.Met290Arg) c.971T>G (p.Met324Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.149569996A>G	CA348868731	MMADHC	c.869T>C (p.Met290Thr) c.971T>C (p.Met324Thr)
2	g.149569996A>T	CA348868730	MMADHC	c.869T>A (p.Met290Lys) c.971T>A (p.Met324Lys)	dbSNP
2	g.149569997T>A	CA348868732	MMADHC	c.868A>T (p.Met290Leu) c.970A>T (p.Met324Leu)	gnomAD v4
2	g.149569997T>C	CA348868733	MMADHC	c.868A>G (p.Met290Val) c.970A>G (p.Met324Val)
2	g.149569997T>G	CA348868734	MMADHC	c.868A>C (p.Met290Leu) c.970A>C (p.Met324Leu)
2	g.149569998A>C	CA348868735	MMADHC	c.867T>G (p.Ile289Met) c.969T>G (p.Ile323Met)
2	g.149569998A>G	CA429405859	MMADHC	c.867T>C (p.Ile289=) c.969T>C (p.Ile323=)	gnomAD v4
2	g.149569998A>T	CA429405858	MMADHC	c.867T>A (p.Ile289=) c.969T>A (p.Ile323=)
2	g.149569999A>C	CA348868741	MMADHC	c.866T>G (p.Ile289Ser) c.968T>G (p.Ile323Ser)
2	g.149569999A>G	CA348868739	MMADHC	c.866T>C (p.Ile289Thr) c.968T>C (p.Ile323Thr)
2	g.149569999A>T	CA348868737	MMADHC	c.866T>A (p.Ile289Asn) c.968T>A (p.Ile323Asn)
2	g.149570000T>A	CA348868744	MMADHC	c.865A>T (p.Ile289Phe) c.967A>T (p.Ile323Phe)
2	g.149570000T>C	CA348868746	MMADHC	c.865A>G (p.Ile289Val) c.967A>G (p.Ile323Val)	dbSNP gnomAD v2 gnomAD v4
2	g.149570000T>G	CA348868748	MMADHC	c.865A>C (p.Ile289Leu) c.967A>C (p.Ile323Leu)
2	g.149570000T=	CA1297264271	MMADHC	c.865A= (p.Ile289=) c.967A= (p.Ile323=)
2	g.149570001A>C	CA348868750	MMADHC	c.864T>G (p.His288Gln) c.966T>G (p.His322Gln)
2	g.149570001A>G	CA429405860	MMADHC	c.864T>C (p.His288=) c.966T>C (p.His322=)	ClinVar
2	g.149570001A>T	CA348868751	MMADHC	c.864T>A (p.His288Gln) c.966T>A (p.His322Gln)
2	g.149570002del	CA2661422178	MMADHC	c.863del (p.His288LeufsTer3) c.965del (p.His322LeufsTer3)	gnomAD v4
2	g.149570002T>A	CA348868753	MMADHC	c.863A>T (p.His288Leu) c.965A>T (p.His322Leu)
2	g.149570002T>C	CA348868754	MMADHC	c.863A>G (p.His288Arg) c.965A>G (p.His322Arg)
2	g.149570002T>G	CA348868757	MMADHC	c.863A>C (p.His288Pro) c.965A>C (p.His322Pro)
2	g.149570003G>A	CA348868758	MMADHC	c.862C>T (p.His288Tyr) c.964C>T (p.His322Tyr)
2	g.149570003G>C	CA1902246	MMADHC	c.862C>G (p.His288Asp) c.964C>G (p.His322Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149570003G=	CA1297264272	MMADHC	c.862C= (p.His288=) c.964C= (p.His322=)
2	g.149570003G>T	CA348868761	MMADHC	c.862C>A (p.His288Asn) c.964C>A (p.His322Asn)
2	g.149570004G>A	CA429405861	MMADHC	c.861C>T (p.Ser287=) c.963C>T (p.Ser321=)	gnomAD v4
2	g.149570004G>C	CA348868765	MMADHC	c.861C>G (p.Ser287Arg) c.963C>G (p.Ser321Arg)
2	g.149570004G>T	CA348868768	MMADHC	c.861C>A (p.Ser287Arg) c.963C>A (p.Ser321Arg)
2	g.149570005C>A	CA1902247	MMADHC	c.860G>T (p.Ser287Ile) c.962G>T (p.Ser321Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149570005C=	CA1297264273	MMADHC	c.860G= (p.Ser287=) c.962G= (p.Ser321=)
2	g.149570005C>G	CA348868770	MMADHC	c.860G>C (p.Ser287Thr) c.962G>C (p.Ser321Thr)
2	g.149570005C>T	CA348868773	MMADHC	c.860G>A (p.Ser287Asn) c.962G>A (p.Ser321Asn)	dbSNP
2	g.149570006T>A	CA348868775	MMADHC	c.859A>T (p.Ser287Cys) c.961A>T (p.Ser321Cys)
2	g.149570006T>C	CA348868776	MMADHC	c.859A>G (p.Ser287Gly) c.961A>G (p.Ser321Gly)
2	g.149570006T>G	CA348868777	MMADHC	c.859A>C (p.Ser287Arg) c.961A>C (p.Ser321Arg)
2	g.149570007G>A	CA429405862	MMADHC	c.858C>T (p.Asp286=) c.960C>T (p.Asp320=)
2	g.149570007G>C	CA348868778	MMADHC	c.858C>G (p.Asp286Glu) c.960C>G (p.Asp320Glu)
2	g.149570007G>T	CA348868779	MMADHC	c.858C>A (p.Asp286Glu) c.960C>A (p.Asp320Glu)
2	g.149570008T>A	CA348868782	MMADHC	c.857A>T (p.Asp286Val) c.959A>T (p.Asp320Val)
2	g.149570008T>C	CA348868783	MMADHC	c.857A>G (p.Asp286Gly) c.959A>G (p.Asp320Gly)	gnomAD v4
2	g.149570008T>G	CA348868785	MMADHC	c.857A>C (p.Asp286Ala) c.959A>C (p.Asp320Ala)	ClinVar dbSNP
2	g.149570008T=	CA1297264274	MMADHC	c.857A= (p.Asp286=) c.959A= (p.Asp320=)
2	g.149570009C>A	CA348868788	MMADHC	c.856G>T (p.Asp286Tyr) c.958G>T (p.Asp320Tyr)
2	g.149570009C=	CA1297264275	MMADHC	c.856G= (p.Asp286=) c.958G= (p.Asp320=)
2	g.149570009C>G	CA348868790	MMADHC	c.856G>C (p.Asp286His) c.958G>C (p.Asp320His)
2	g.149570009C>T	CA348868792	MMADHC	c.856G>A (p.Asp286Asn) c.958G>A (p.Asp320Asn)	gnomAD v4
2	g.149570010T>A	CA1902248	MMADHC	c.855A>T (p.Pro285=) c.957A>T (p.Pro319=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149570010T>C	CA429405863	MMADHC	c.855A>G (p.Pro285=) c.957A>G (p.Pro319=)
2	g.149570010T>G	CA429405864	MMADHC	c.855A>C (p.Pro285=) c.957A>C (p.Pro319=)
2	g.149570010T=	CA1297264276	MMADHC	c.855A= (p.Pro285=) c.957A= (p.Pro319=)
2	g.149570012_149570014dup	CA348868794	MMADHC	c.853_855dup (p.Pro285_Asp286insPro) c.955_957dup (p.Pro319_Asp320insPro)	dbSNP gnomAD v4
2	g.149570011G>A	CA348868800	MMADHC	c.854C>T (p.Pro285Leu) c.956C>T (p.Pro319Leu)	gnomAD v4
2	g.149570011G>C	CA348868807	MMADHC	c.854C>G (p.Pro285Arg) c.956C>G (p.Pro319Arg)
2	g.149570011G>T	CA348868798	MMADHC	c.854C>A (p.Pro285Gln) c.956C>A (p.Pro319Gln)
2	g.149570012G>A	CA348868814	MMADHC	c.853C>T (p.Pro285Ser) c.955C>T (p.Pro319Ser)	gnomAD v4
2	g.149570012G>C	CA348868809	MMADHC	c.853C>G (p.Pro285Ala) c.955C>G (p.Pro319Ala)
2	g.149570012G=	CA1297264277	MMADHC	c.853C= (p.Pro285=) c.955C= (p.Pro319=)
2	g.149570012G>T	CA348868812	MMADHC	c.853C>A (p.Pro285Thr) c.955C>A (p.Pro319Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.149570013T>A	CA429405867	MMADHC	c.852A>T (p.Thr284=) c.954A>T (p.Thr318=)
2	g.149570013T>C	CA429405866	MMADHC	c.852A>G (p.Thr284=) c.954A>G (p.Thr318=)
2	g.149570013T>G	CA429405865	MMADHC	c.852A>C (p.Thr284=) c.954A>C (p.Thr318=)
2	g.149570014G>A	CA348868817	MMADHC	c.851C>T (p.Thr284Ile) c.953C>T (p.Thr318Ile)
2	g.149570014G>C	CA348868818	MMADHC	c.851C>G (p.Thr284Arg) c.953C>G (p.Thr318Arg)
2	g.149570014G>T	CA348868820	MMADHC	c.851C>A (p.Thr284Lys) c.953C>A (p.Thr318Lys)	COSMIC
2	g.149570015T>A	CA348868826	MMADHC	c.850A>T (p.Thr284Ser) c.952A>T (p.Thr318Ser)	gnomAD v4
2	g.149570015T>C	CA348868825	MMADHC	c.850A>G (p.Thr284Ala) c.952A>G (p.Thr318Ala)
2	g.149570015T>G	CA348868822	MMADHC	c.850A>C (p.Thr284Pro) c.952A>C (p.Thr318Pro)
2	g.149570016del	CA2577116926	MMADHC	c.850del (p.Thr284HisfsTer7) c.952del (p.Thr318HisfsTer7)
2	g.149570016T>A	CA429405868	MMADHC	c.849A>T (p.Ala283=) c.951A>T (p.Ala317=)
2	g.149570016T>C	CA429405869	MMADHC	c.849A>G (p.Ala283=) c.951A>G (p.Ala317=)	gnomAD v4
2	g.149570016T>G	CA429405870	MMADHC	c.849A>C (p.Ala283=) c.951A>C (p.Ala317=)	gnomAD v4
2	g.149570017G>A	CA348868830	MMADHC	c.848C>T (p.Ala283Val) c.950C>T (p.Ala317Val)
2	g.149570017G>C	CA348868831	MMADHC	c.848C>G (p.Ala283Gly) c.950C>G (p.Ala317Gly)
2	g.149570017G>T	CA348868834	MMADHC	c.848C>A (p.Ala283Glu) c.950C>A (p.Ala317Glu)
2	g.149570018C>A	CA348868836	MMADHC	c.847G>T (p.Ala283Ser) c.949G>T (p.Ala317Ser)
2	g.149570018C>G	CA348868839	MMADHC	c.847G>C (p.Ala283Pro) c.949G>C (p.Ala317Pro)
2	g.149570018C>T	CA348868841	MMADHC	c.847G>A (p.Ala283Thr) c.949G>A (p.Ala317Thr)
2	g.149570019A=	CA1297264278	MMADHC	c.846T= (p.Asn282=) c.948T= (p.Asn316=)
2	g.149570019A>C	CA348868844	MMADHC	c.846T>G (p.Asn282Lys) c.948T>G (p.Asn316Lys)
2	g.149570019A>G	CA1902249	MMADHC	c.846T>C (p.Asn282=) c.948T>C (p.Asn316=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149570019A>T	CA348868845	MMADHC	c.846T>A (p.Asn282Lys) c.948T>A (p.Asn316Lys)
2	g.149570020T>A	CA348868850	MMADHC	c.845A>T (p.Asn282Ile) c.947A>T (p.Asn316Ile)	COSMIC
2	g.149570020T>C	CA1902250	MMADHC	c.845A>G (p.Asn282Ser) c.947A>G (p.Asn316Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.149570020T>G	CA348868852	MMADHC	c.845A>C (p.Asn282Thr) c.947A>C (p.Asn316Thr)
2	g.149570020T=	CA1297264279	MMADHC	c.845A= (p.Asn282=) c.947A= (p.Asn316=)
2	g.149570021T>A	CA348868854	MMADHC	c.844A>T (p.Asn282Tyr) c.946A>T (p.Asn316Tyr)
2	g.149570021T>C	CA348868856	MMADHC	c.844A>G (p.Asn282Asp) c.946A>G (p.Asn316Asp)	gnomAD v4
2	g.149570021T>G	CA348868858	MMADHC	c.844A>C (p.Asn282His) c.946A>C (p.Asn316His)
2	g.149570022A>C	CA429405871	MMADHC	c.843T>G (p.Thr281=) c.945T>G (p.Thr315=)
2	g.149570022A>G	CA429405872	MMADHC	c.843T>C (p.Thr281=) c.945T>C (p.Thr315=)
2	g.149570022A>T	CA429405873	MMADHC	c.843T>A (p.Thr281=) c.945T>A (p.Thr315=)
2	g.149570023G>A	CA1902252	MMADHC	c.842C>T (p.Thr281Ile) c.944C>T (p.Thr315Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149570023G>C	CA1902251	MMADHC	c.842C>G (p.Thr281Ser) c.944C>G (p.Thr315Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.149570023G=	CA1297264280	MMADHC	c.842C= (p.Thr281=) c.944C= (p.Thr315=)
2	g.149570023G>T	CA348868862	MMADHC	c.842C>A (p.Thr281Asn) c.944C>A (p.Thr315Asn)
2	g.149570024T>A	CA348868864	MMADHC	c.841A>T (p.Thr281Ser) c.943A>T (p.Thr315Ser)
2	g.149570024T>C	CA348868866	MMADHC	c.841A>G (p.Thr281Ala) c.943A>G (p.Thr315Ala)
2	g.149570024T>G	CA348868868	MMADHC	c.841A>C (p.Thr281Pro) c.943A>C (p.Thr315Pro)
2	g.149570025G>A	CA429405874	MMADHC	c.840C>T (p.Phe280=) c.942C>T (p.Phe314=)	ClinVar dbSNP
2	g.149570025G>C	CA348868872	MMADHC	c.840C>G (p.Phe280Leu) c.942C>G (p.Phe314Leu)
2	g.149570025G>T	CA348868870	MMADHC	c.840C>A (p.Phe280Leu) c.942C>A (p.Phe314Leu)

Number of alleles fetched