CleftGeneDB-Search

Gene: MTR

Basic information

Tag	Content
Uniprot ID	Q99707; A1L4N8; A9Z1W4; B7ZLW7; B9EGF7; Q99713; Q99723;
Entrez ID	4548
Genbank protein ID	AAC51188.1; AAB58906.1; EAW70066.1; AAB39704.1; AAI44096.1; AAI30617.1; AAI36441.1;
Genbank nucleotide ID	NM_001291939.1; NM_001291940.1; NM_000254.2;
Ensembl protein ID	ENSP00000355536; ENSP00000441845;
Ensembl nucleotide ID	ENSG00000116984
Gene name	Methionine synthase
Gene symbol	MTR
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16712703; 27167580;
Functional description	Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:27771510). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (PubMed:27771510). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510).
Sequence	MSPALQDLSQ PEGLKKTLRD EINAILQKRI MVLDGGMGTM IQREKLNEEH FRGQEFKDHA 60 RPLKGNNDIL SITQPDVIYQ IHKEYLLAGA DIIETNTFSS TSIAQADYGL EHLAYRMNMC 120 SAGVARKAAE EVTLQTGIKR FVAGALGPTN KTLSVSPSVE RPDYRNITFD ELVEAYQEQA 180 KGLLDGGVDI LLIETIFDTA NAKAALFALQ NLFEEKYAPR PIFISGTIVD KSGRTLSGQT 240 GEGFVISVSH GEPLCIGLNC ALGAAEMRPF IEIIGKCTTA YVLCYPNAGL PNTFGDYDET 300 PSMMAKHLKD FAMDGLVNIV GGCCGSTPDH IREIAEAVKN CKPRVPPATA FEGHMLLSGL 360 EPFRIGPYTN FVNIGERCNV AGSRKFAKLI MAGNYEEALC VAKVQVEMGA QVLDVNMDDG 420 MLDGPSAMTR FCNLIASEPD IAKVPLCIDS SNFAVIEAGL KCCQGKCIVN SISLKEGEDD 480 FLEKARKIKK YGAAMVVMAF DEEGQATETD TKIRVCTRAY HLLVKKLGFN PNDIIFDPNI 540 LTIGTGMEEH NLYAINFIHA TKVIKETLPG ARISGGLSNL SFSFRGMEAI REAMHGVFLY 600 HAIKSGMDMG IVNAGNLPVY DDIHKELLQL CEDLIWNKDP EATEKLLRYA QTQGTGGKKV 660 IQTDEWRNGP VEERLEYALV KGIEKHIIED TEEARLNQKK YPRPLNIIEG PLMNGMKIVG 720 DLFGAGKMFL PQVIKSARVM KKAVGHLIPF MEKEREETRV LNGTVEEEDP YQGTIVLATV 780 KGDVHDIGKN IVGVVLGCNN FRVIDLGVMT PCDKILKAAL DHKADIIGLS GLITPSLDEM 840 IFVAKEMERL AIRIPLLIGG ATTSKTHTAV KIAPRYSAPV IHVLDASKSV VVCSQLLDEN 900 LKDEYFEEIM EEYEDIRQDH YESLKERRYL PLSQARKSGF QMDWLSEPHP VKPTFIGTQV 960 FEDYDLQKLV DYIDWKPFFD VWQLRGKYPN RGFPKIFNDK TVGGEARKVY DDAHNMLNTL 1020 ISQKKLRARG VVGFWPAQSI QDDIHLYAEA AVPQAAEPIA TFYGLRQQAE KDSASTEPYY 1080 CLSDFIAPLH SGIRDYLGLF AVACFGVEEL SKAYEDDGDD YSSIMVKALG DRLAEAFAEE 1140 LHERVRRELW AYCGSEQLDV ADLRRLRYKG IRPAPGYPSQ PDHTEKLTMW RLADIEQSTG 1200 IRLTESLAMA PASAVSGLYF SNLKSKYFAV GKISKDQVED YALRKNISVA EVEKWLGPIL 1260 GYDTD 1265

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2O2K
4CCZ
2O2K

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	MTR		A0A3Q1M346	Bos taurus	Prediction	More>>
1:1 ortholog	MTR	102172599	A0A452DLF5	Capra hircus	Prediction	More>>
1:1 ortholog	MTR	4548	Q99707	Homo sapiens	Publication	More>>
1:1 ortholog	Mtr	238505	A6H5Y3	Mus musculus	Prediction	More>>
1:1 ortholog	MTR	457844	A0A2I3TRS7	Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A480IS22	Sus scrofa	Prediction	More>>
1:1 ortholog	Mtr		G3V8A4	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MTR	c.2756A>G; p.Asp919Gly	PCR-RFLP	16712703
MTR	rs1805087; c.2756A>G	PCR-RFLP	27167580
MTR	rs10925239 (protective)	Global screening array	32492698
MTR	rs10925254 (protective)	Global screening array	32492698
MTR	rs3768142 (protective)	Global screening array	32492698

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000518922	p.Met1Ter	frameshift	-	NC_000001.11:g.236795704_236795705del	ClinVar
COSM3804465	p.Ser2Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236795708C>A	NCI-TCGA Cosmic
rs1471694660	p.Pro3Ser	missense variant	-	NC_000001.11:g.236795710C>T	gnomAD
rs1418638914	p.Ala4Thr	missense variant	-	NC_000001.11:g.236795713G>A	gnomAD
rs139083778	p.Leu5Ile	missense variant	-	NC_000001.11:g.236795716C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln6Ter	stop gained	-	NC_000001.11:g.236795719C>T	NCI-TCGA
rs1157538901	p.Asp7Glu	missense variant	-	NC_000001.11:g.236795724C>G	TOPMed
NCI-TCGA novel	p.Asp7Tyr	missense variant	-	NC_000001.11:g.236795722G>T	NCI-TCGA
rs376654651	p.Leu8Val	missense variant	-	NC_000001.11:g.236795725C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu8Pro	missense variant	-	NC_000001.11:g.236795726T>C	NCI-TCGA
rs1358937870	p.Ser9Pro	missense variant	-	NC_000001.11:g.236795728T>C	TOPMed,gnomAD
rs201533281	p.Ser9Leu	missense variant	-	NC_000001.11:g.236795729C>T	1000Genomes,ExAC,gnomAD
rs1182148079	p.Pro11His	missense variant	-	NC_000001.11:g.236795735C>A	TOPMed
rs890801915	p.Glu12Gly	missense variant	-	NC_000001.11:g.236803428A>G	TOPMed
rs376681897	p.Arg19Gly	missense variant	-	NC_000001.11:g.236803448C>G	ESP,ExAC,TOPMed,gnomAD
rs376681897	p.Arg19Trp	missense variant	-	NC_000001.11:g.236803448C>T	ESP,ExAC,TOPMed,gnomAD
rs767724201	p.Arg19Gln	missense variant	-	NC_000001.11:g.236803449G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp20Val	missense variant	-	NC_000001.11:g.236803452A>T	NCI-TCGA
rs1415816351	p.Asp20Glu	missense variant	-	NC_000001.11:g.236803453T>A	gnomAD
rs1331695580	p.Glu21Lys	missense variant	-	NC_000001.11:g.236803454G>A	gnomAD
rs760845484	p.Asn23Ser	missense variant	-	NC_000001.11:g.236803461A>G	ExAC,TOPMed,gnomAD
rs752855469	p.Asn23Asp	missense variant	-	NC_000001.11:g.236803460A>G	ExAC,gnomAD
rs1300477913	p.Asn23Lys	missense variant	-	NC_000001.11:g.236803462T>G	gnomAD
rs764054343	p.Ile25Val	missense variant	-	NC_000001.11:g.236803466A>G	ExAC,gnomAD
rs764054343	p.Ile25Phe	missense variant	-	NC_000001.11:g.236803466A>T	ExAC,gnomAD
rs1039659576	p.Gln27Arg	missense variant	-	NC_000001.11:g.236803473A>G	TOPMed
rs1384964032	p.Lys28Asn	missense variant	-	NC_000001.11:g.236803477G>T	TOPMed
rs1338725410	p.Val32Met	missense variant	-	NC_000001.11:g.236803487G>A	TOPMed
rs1228136721	p.Asp34Glu	missense variant	-	NC_000001.11:g.236803495T>G	gnomAD
rs371079306	p.Met37Thr	missense variant	-	NC_000001.11:g.236803503T>C	ESP,ExAC,TOPMed,gnomAD
rs1198918767	p.Ile41Leu	missense variant	-	NC_000001.11:g.236803514A>C	gnomAD
rs757720946	p.Arg43Trp	missense variant	-	NC_000001.11:g.236803520C>T	ExAC,TOPMed,gnomAD
rs143088011	p.Arg43Gln	missense variant	-	NC_000001.11:g.236803521G>A	ESP,ExAC,TOPMed,gnomAD
rs143088011	p.Arg43Leu	missense variant	-	NC_000001.11:g.236803521G>T	ESP,ExAC,TOPMed,gnomAD
rs1447510980	p.Glu44Gln	missense variant	-	NC_000001.11:g.236803523G>C	gnomAD
rs373236234	p.Glu44Asp	missense variant	-	NC_000001.11:g.236803525G>T	ESP,ExAC,TOPMed,gnomAD
rs747724978	p.Lys45Asn	missense variant	-	NC_000001.11:g.236803528G>C	ExAC,TOPMed,gnomAD
rs769395060	p.Glu48Lys	missense variant	-	NC_000001.11:g.236803535G>A	ExAC,gnomAD
rs749273555	p.His50Arg	missense variant	-	NC_000001.11:g.236803542A>G	ExAC,gnomAD
rs777103178	p.His50Tyr	missense variant	-	NC_000001.11:g.236803541C>T	ExAC,gnomAD
rs12749581	p.Arg52Gln	missense variant	-	NC_000001.11:g.236803548G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12749581	p.Arg52Gln	missense variant	-	NC_000001.11:g.236803548G>A	UniProt,dbSNP
VAR_050033	p.Arg52Gln	missense variant	-	NC_000001.11:g.236803548G>A	UniProt
rs767201867	p.Arg52Ter	stop gained	-	NC_000001.11:g.236803547C>T	TOPMed,gnomAD
RCV000642174	p.Arg52Gln	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236803548G>A	ClinVar
rs774303595	p.Gly53Val	missense variant	-	NC_000001.11:g.236803551G>T	ExAC,gnomAD
COSM6125213	p.Gln54Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236803553C>T	NCI-TCGA Cosmic
rs759468686	p.Gln54His	missense variant	-	NC_000001.11:g.236803555G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu55Lys	missense variant	-	NC_000001.11:g.236803556G>A	NCI-TCGA
rs1435000607	p.Lys57Gln	missense variant	-	NC_000001.11:g.236803562A>C	gnomAD
rs1333154240	p.Ala60Ser	missense variant	-	NC_000001.11:g.236803571G>T	gnomAD
rs775827591	p.Ala60Gly	missense variant	-	NC_000001.11:g.236803572C>G	ExAC,gnomAD
VAR_004326	p.Arg61Lys	Missense	-	-	UniProt
rs760756234	p.Pro62Ser	missense variant	-	NC_000001.11:g.236803577C>T	ExAC,gnomAD
rs61736442	p.Pro62Leu	missense variant	-	NC_000001.11:g.236803578C>T	ExAC,gnomAD
rs1463533327	p.Gly65Asp	missense variant	-	NC_000001.11:g.236803587G>A	gnomAD
rs1208006921	p.Asn66Ser	missense variant	-	NC_000001.11:g.236803590A>G	gnomAD
rs762320058	p.Asn67Ser	missense variant	-	NC_000001.11:g.236803593A>G	ExAC,TOPMed,gnomAD
rs1333592892	p.Ser71Asn	missense variant	-	NC_000001.11:g.236803605G>A	TOPMed,gnomAD
rs1376723117	p.Ile72Val	missense variant	-	NC_000001.11:g.236803607A>G	TOPMed,gnomAD
rs750927351	p.Ile72Met	missense variant	-	NC_000001.11:g.236803609A>G	ExAC,gnomAD
rs758803927	p.Thr73Ser	missense variant	-	NC_000001.11:g.236803611C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln74Glu	missense variant	-	NC_000001.11:g.236803613C>G	NCI-TCGA
rs1409105939	p.Pro75Leu	missense variant	-	NC_000001.11:g.236803617C>T	gnomAD
rs1457210228	p.Asp76Asn	missense variant	-	NC_000001.11:g.236803619G>A	gnomAD
rs1296588896	p.Ile81Thr	missense variant	-	NC_000001.11:g.236803635T>C	TOPMed
rs1393448524	p.His82Arg	missense variant	-	NC_000001.11:g.236803638A>G	gnomAD
rs766800721	p.Tyr85Phe	missense variant	-	NC_000001.11:g.236806148A>T	ExAC,gnomAD
rs763321071	p.Tyr85Asn	missense variant	-	NC_000001.11:g.236806147T>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr85His	missense variant	-	NC_000001.11:g.236806147T>C	NCI-TCGA
rs1242485688	p.Ala88Val	missense variant	-	NC_000001.11:g.236806157C>T	gnomAD
NCI-TCGA novel	p.Ala90Thr	missense variant	-	NC_000001.11:g.236806162G>A	NCI-TCGA
rs755806533	p.Asp91Glu	missense variant	-	NC_000001.11:g.236806167T>G	ExAC,gnomAD
rs956616795	p.Asp91His	missense variant	-	NC_000001.11:g.236806165G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp91Tyr	missense variant	-	NC_000001.11:g.236806165G>T	NCI-TCGA
rs753506566	p.Ile93Val	missense variant	-	NC_000001.11:g.236806171A>G	ExAC,gnomAD
rs756873897	p.Ile93Thr	missense variant	-	NC_000001.11:g.236806172T>C	ExAC,gnomAD
rs1182007274	p.Glu94Gln	missense variant	-	NC_000001.11:g.236806174G>C	gnomAD
rs778513217	p.Thr95Ile	missense variant	-	NC_000001.11:g.236806178C>T	ExAC,gnomAD
rs1422635105	p.Asn96Asp	missense variant	-	NC_000001.11:g.236806180A>G	gnomAD
NCI-TCGA novel	p.Phe98Leu	missense variant	-	NC_000001.11:g.236806188T>A	NCI-TCGA
rs745828101	p.Ser100Gly	missense variant	-	NC_000001.11:g.236806192A>G	ExAC,gnomAD
rs980644569	p.Thr101Ser	missense variant	-	NC_000001.11:g.236806196C>G	TOPMed,gnomAD
rs980644569	p.Thr101Ile	missense variant	-	NC_000001.11:g.236806196C>T	TOPMed,gnomAD
rs758202311	p.Thr101Ala	missense variant	-	NC_000001.11:g.236806195A>G	ExAC,gnomAD
rs1370258050	p.Ile103Val	missense variant	-	NC_000001.11:g.236806201A>G	gnomAD
rs367730702	p.Ile103Thr	missense variant	-	NC_000001.11:g.236806202T>C	ESP,ExAC,TOPMed,gnomAD
rs1304708310	p.Ala106Val	missense variant	-	NC_000001.11:g.236806211C>T	gnomAD
rs746836137	p.Gly109Ser	missense variant	-	NC_000001.11:g.236806219G>A	ExAC,TOPMed,gnomAD
rs1311957427	p.Leu110Phe	missense variant	-	NC_000001.11:g.236806222C>T	gnomAD
rs768491623	p.Glu111Gln	missense variant	-	NC_000001.11:g.236806225G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu111Asp	missense variant	-	NC_000001.11:g.236806227A>C	NCI-TCGA
rs1230346768	p.Leu113Phe	missense variant	-	NC_000001.11:g.236806233G>T	gnomAD
rs775926869	p.Ala114Val	missense variant	-	NC_000001.11:g.236808705C>T	ExAC,gnomAD
rs761569144	p.Tyr115Cys	missense variant	-	NC_000001.11:g.236808708A>G	ExAC,TOPMed,gnomAD
rs1034987757	p.Arg116Trp	missense variant	-	NC_000001.11:g.236808710C>T	TOPMed,gnomAD
rs1414249194	p.Arg116Gln	missense variant	-	NC_000001.11:g.236808711G>A	gnomAD
rs143180799	p.Met117Val	missense variant	-	NC_000001.11:g.236808713A>G	ESP,ExAC,TOPMed,gnomAD
rs143180799	p.Met117Leu	missense variant	-	NC_000001.11:g.236808713A>C	ESP,ExAC,TOPMed,gnomAD
rs538707626	p.Met119Val	missense variant	-	NC_000001.11:g.236808719A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs151161326	p.Met119Thr	missense variant	-	NC_000001.11:g.236808720T>C	ESP,ExAC,TOPMed,gnomAD
rs1014821687	p.Cys120Gly	missense variant	-	NC_000001.11:g.236808722T>G	TOPMed,gnomAD
rs1436938156	p.Cys120Tyr	missense variant	-	NC_000001.11:g.236808723G>A	gnomAD
rs557603489	p.Ala122Val	missense variant	-	NC_000001.11:g.236808729C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala125Thr	missense variant	-	NC_000001.11:g.236808737G>A	NCI-TCGA
rs1365119706	p.Arg126Gly	missense variant	-	NC_000001.11:g.236808740A>G	gnomAD
rs754871053	p.Arg126Lys	missense variant	-	NC_000001.11:g.236808741G>A	ExAC
rs1190777785	p.Ala129Pro	missense variant	-	NC_000001.11:g.236808749G>C	TOPMed
rs755894287	p.Glu130Lys	missense variant	-	NC_000001.11:g.236808752G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu130Val	missense variant	-	NC_000001.11:g.236808753A>T	NCI-TCGA
rs969895798	p.Val132Ile	missense variant	-	NC_000001.11:g.236808758G>A	TOPMed,gnomAD
rs777926993	p.Thr133Ser	missense variant	-	NC_000001.11:g.236808762C>G	ExAC,gnomAD
rs1225983206	p.Thr133Ala	missense variant	-	NC_000001.11:g.236808761A>G	gnomAD
rs1224330699	p.Gln135Arg	missense variant	-	NC_000001.11:g.236808768A>G	gnomAD
rs986483270	p.Arg140Lys	missense variant	-	NC_000001.11:g.236810512G>A	TOPMed
rs1411468871	p.Ala143Val	missense variant	-	NC_000001.11:g.236810521C>T	gnomAD
rs1179107463	p.Ala143Ser	missense variant	-	NC_000001.11:g.236810520G>T	TOPMed
rs777573171	p.Gly144Arg	missense variant	-	NC_000001.11:g.236810523G>A	ExAC,TOPMed,gnomAD
rs777573171	p.Gly144Trp	missense variant	-	NC_000001.11:g.236810523G>T	ExAC,TOPMed,gnomAD
rs754035798	p.Ala145Thr	missense variant	-	NC_000001.11:g.236810526G>A	ExAC,TOPMed,gnomAD
COSM1646116	p.Leu146Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236810529C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly147Cys	missense variant	-	NC_000001.11:g.236810532G>T	NCI-TCGA
rs757429726	p.Pro148Leu	missense variant	-	NC_000001.11:g.236810536C>T	ExAC,gnomAD
rs1239731240	p.Asn150Ser	missense variant	-	NC_000001.11:g.236810542A>G	TOPMed
rs919795873	p.Asn150Tyr	missense variant	-	NC_000001.11:g.236810541A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys151Asn	missense variant	-	NC_000001.11:g.236810546G>T	NCI-TCGA
rs1375053659	p.Leu153His	missense variant	-	NC_000001.11:g.236810551T>A	TOPMed
rs1311934439	p.Ser154Cys	missense variant	-	NC_000001.11:g.236810554C>G	TOPMed
NCI-TCGA novel	p.Ser154Phe	missense variant	-	NC_000001.11:g.236810554C>T	NCI-TCGA
rs1382616664	p.Val155Met	missense variant	-	NC_000001.11:g.236810556G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val159Met	missense variant	-	NC_000001.11:g.236810568G>A	NCI-TCGA
rs201799064	p.Pro162Leu	missense variant	-	NC_000001.11:g.236810578C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro162Thr	missense variant	-	NC_000001.11:g.236810577C>A	NCI-TCGA
NCI-TCGA novel	p.Asp163Gly	missense variant	-	NC_000001.11:g.236810581A>G	NCI-TCGA
rs768925414	p.Tyr164Cys	missense variant	-	NC_000001.11:g.236810584A>G	ExAC,gnomAD
rs777016424	p.Arg165Lys	missense variant	-	NC_000001.11:g.236810587G>A	ExAC
rs1444219431	p.Asn166Ser	missense variant	-	NC_000001.11:g.236810590A>G	gnomAD
rs1198921722	p.Ile167Phe	missense variant	-	NC_000001.11:g.236810592A>T	gnomAD
rs1204404590	p.Phe169Ser	missense variant	-	NC_000001.11:g.236812741T>C	gnomAD
rs781425281	p.Asp170Tyr	missense variant	-	NC_000001.11:g.236812743G>T	ExAC,gnomAD
rs770051707	p.Leu172Phe	missense variant	-	NC_000001.11:g.236812749C>T	ExAC
COSM282921	p.Ala175Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236812758G>A	NCI-TCGA Cosmic
rs774036304	p.Gln179Glu	missense variant	-	NC_000001.11:g.236812770C>G	ExAC,gnomAD
rs745501498	p.Gln179His	missense variant	-	NC_000001.11:g.236812772G>C	ExAC,gnomAD
rs1268402814	p.Ala180Ser	missense variant	-	NC_000001.11:g.236812773G>T	TOPMed
rs1186280800	p.Lys181Arg	missense variant	-	NC_000001.11:g.236812777A>G	TOPMed
rs566083450	p.Gly182Glu	missense variant	-	NC_000001.11:g.236812780G>A	1000Genomes
rs1453654035	p.Asp185Val	missense variant	-	NC_000001.11:g.236812789A>T	gnomAD
rs771598275	p.Gly186Asp	missense variant	-	NC_000001.11:g.236812792G>A	ExAC,gnomAD
rs372174747	p.Gly187Arg	missense variant	-	NC_000001.11:g.236812794G>A	ESP,TOPMed,gnomAD
rs1351279070	p.Val188Phe	missense variant	-	NC_000001.11:g.236812797G>T	gnomAD
rs1209937341	p.Asp189Gly	missense variant	-	NC_000001.11:g.236812801A>G	TOPMed
rs1322149560	p.Ile190Val	missense variant	-	NC_000001.11:g.236812803A>G	TOPMed
rs1411748840	p.Leu191Val	missense variant	-	NC_000001.11:g.236812806T>G	gnomAD
rs764148198	p.Ile193Met	missense variant	-	NC_000001.11:g.236812814T>G	ExAC,TOPMed,gnomAD
rs776426879	p.Ile196Val	missense variant	-	NC_000001.11:g.236812821A>G	ExAC,TOPMed,gnomAD
COSM1340385	p.Asp198Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236812821_236812822insT	NCI-TCGA Cosmic
rs1331318810	p.Ala200Gly	missense variant	-	NC_000001.11:g.236812834C>G	TOPMed
rs761706771	p.Asn201Lys	missense variant	-	NC_000001.11:g.236812838T>A	ExAC,gnomAD
rs764918943	p.Lys203Asn	missense variant	-	NC_000001.11:g.236812844G>T	ExAC,gnomAD
rs763284188	p.Ala205Val	missense variant	-	NC_000001.11:g.236815608C>T	ExAC,TOPMed,gnomAD
rs773074760	p.Ala205Thr	missense variant	-	NC_000001.11:g.236815607G>A	ExAC,gnomAD
rs148101911	p.Phe207Leu	missense variant	-	NC_000001.11:g.236815615T>G	ESP,ExAC,TOPMed,gnomAD
rs1451672569	p.Ala208Val	missense variant	-	NC_000001.11:g.236815617C>T	gnomAD
rs767477474	p.Gln210Ter	stop gained	-	NC_000001.11:g.236815622C>T	ExAC,gnomAD
rs1304651259	p.Gln210Pro	missense variant	-	NC_000001.11:g.236815623A>C	gnomAD
rs546918671	p.Asn211Ser	missense variant	-	NC_000001.11:g.236815626A>G	ExAC,gnomAD
rs778119339	p.Phe213Val	missense variant	-	NC_000001.11:g.236815631T>G	ExAC,gnomAD
rs1365704680	p.Phe213Ser	missense variant	-	NC_000001.11:g.236815632T>C	gnomAD
rs971533453	p.Glu214Gly	missense variant	-	NC_000001.11:g.236815635A>G	TOPMed
rs1306310765	p.Lys216Asn	missense variant	-	NC_000001.11:g.236815642A>C	TOPMed
rs1018152954	p.Lys216Glu	missense variant	-	NC_000001.11:g.236815640A>G	TOPMed,gnomAD
rs201075948	p.Lys216Arg	missense variant	-	NC_000001.11:g.236815641A>G	1000Genomes,ExAC
rs1018152954	p.Lys216Ter	stop gained	-	NC_000001.11:g.236815640A>T	TOPMed,gnomAD
rs1348520797	p.Ala218Ser	missense variant	-	NC_000001.11:g.236815646G>T	gnomAD
rs746617612	p.Pro219Ser	missense variant	-	NC_000001.11:g.236815649C>T	ExAC,gnomAD
rs780526997	p.Arg220Gln	missense variant	-	NC_000001.11:g.236815653G>A	ExAC,TOPMed,gnomAD
rs533191536	p.Arg220Trp	missense variant	-	NC_000001.11:g.236815652C>T	1000Genomes,ExAC,gnomAD
rs533191536	p.Arg220Gly	missense variant	-	NC_000001.11:g.236815652C>G	1000Genomes,ExAC,gnomAD
RCV000404047	p.Arg220Gln	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236815653G>A	ClinVar
rs748122772	p.Pro221Ala	missense variant	-	NC_000001.11:g.236815655C>G	ExAC,gnomAD
rs1249136110	p.Ile222Val	missense variant	-	NC_000001.11:g.236815658A>G	gnomAD
rs977008218	p.Phe223Leu	missense variant	-	NC_000001.11:g.236815663T>A	TOPMed,gnomAD
rs777900847	p.Ile224Val	missense variant	-	NC_000001.11:g.236816449A>G	ExAC,TOPMed,gnomAD
rs777900847	p.Ile224Phe	missense variant	-	NC_000001.11:g.236816449A>T	ExAC,TOPMed,gnomAD
rs773980983	p.Ile228Val	missense variant	-	NC_000001.11:g.236816461A>G	ExAC,gnomAD
rs61736441	p.Val229Ile	missense variant	-	NC_000001.11:g.236816464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1288411041	p.Lys231Arg	missense variant	-	NC_000001.11:g.236816471A>G	gnomAD
NCI-TCGA novel	p.Thr235Ile	missense variant	-	NC_000001.11:g.236816483C>T	NCI-TCGA
COSM3485664	p.Ser237Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236816489C>T	NCI-TCGA Cosmic
rs934470002	p.Gly238Arg	missense variant	-	NC_000001.11:g.236816491G>A	TOPMed,gnomAD
rs760780594	p.Gly241Val	missense variant	-	NC_000001.11:g.236816501G>T	ExAC,gnomAD
rs892898718	p.Glu242Lys	missense variant	-	NC_000001.11:g.236816503G>A	TOPMed
NCI-TCGA novel	p.Glu242Asp	missense variant	-	NC_000001.11:g.236816505G>T	NCI-TCGA
rs374537482	p.Ile246Val	missense variant	-	NC_000001.11:g.236816515A>G	ESP,TOPMed
rs142648132	p.Val248Leu	missense variant	-	NC_000001.11:g.236816521G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142648132	p.Val248Leu	missense variant	-	NC_000001.11:g.236816521G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142648132	p.Val248Met	missense variant	-	NC_000001.11:g.236816521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val248Glu	missense variant	-	NC_000001.11:g.236816522T>A	NCI-TCGA
RCV000297160	p.Val248Met	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236816521G>A	ClinVar
rs1471143847	p.His250Tyr	missense variant	-	NC_000001.11:g.236816527C>T	gnomAD
rs758776466	p.Glu252Gly	missense variant	-	NC_000001.11:g.236816534A>G	ExAC,TOPMed,gnomAD
rs767144332	p.Pro253Leu	missense variant	-	NC_000001.11:g.236816537C>T	ExAC,gnomAD
rs1140598	p.Cys255Phe	missense variant	-	NC_000001.11:g.236816543G>T	ExAC,gnomAD
rs1140598	p.Cys255Tyr	missense variant	-	NC_000001.11:g.236816543G>A	ExAC,gnomAD
rs1382542964	p.Ala265Pro	missense variant	-	NC_000001.11:g.236824147G>C	TOPMed,gnomAD
rs1382542964	p.Ala265Thr	missense variant	-	NC_000001.11:g.236824147G>A	TOPMed,gnomAD
rs747235861	p.Pro269Ala	missense variant	-	NC_000001.11:g.236824159C>G	ExAC,gnomAD
rs375009383	p.Phe270Ser	missense variant	-	NC_000001.11:g.236824163T>C	ESP,TOPMed
NCI-TCGA novel	p.Glu272Ala	missense variant	-	NC_000001.11:g.236824169A>C	NCI-TCGA
rs368380397	p.Ile274Thr	missense variant	-	NC_000001.11:g.236824175T>C	ESP,ExAC,TOPMed,gnomAD
rs781379829	p.Cys277Gly	missense variant	-	NC_000001.11:g.236824183T>G	ExAC,gnomAD
rs748295087	p.Thr278Ala	missense variant	-	NC_000001.11:g.236824186A>G	ExAC,TOPMed,gnomAD
rs773643586	p.Thr279Ile	missense variant	-	NC_000001.11:g.236824190C>T	ExAC,gnomAD
rs74767314	p.Thr279Pro	missense variant	-	NC_000001.11:g.236824189A>C	ExAC,gnomAD
COSM906093	p.Ala280Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236824192G>T	NCI-TCGA Cosmic
rs1312960389	p.Ala280Val	missense variant	-	NC_000001.11:g.236824193C>T	gnomAD
NCI-TCGA novel	p.Ala280Thr	missense variant	-	NC_000001.11:g.236824192G>A	NCI-TCGA
rs750383628	p.Tyr281Cys	missense variant	-	NC_000001.11:g.236824196A>G	ExAC,TOPMed,gnomAD
rs771234723	p.Val282Asp	missense variant	-	NC_000001.11:g.236824199T>A	ExAC,gnomAD
rs774793877	p.Leu283Phe	missense variant	-	NC_000001.11:g.236824201C>T	ExAC,gnomAD
rs763902448	p.Asn287Ser	missense variant	-	NC_000001.11:g.236824214A>G	ExAC,TOPMed,gnomAD
rs761484203	p.Leu290Phe	missense variant	-	NC_000001.11:g.236825340C>T	ExAC,TOPMed,gnomAD
rs764656039	p.Asn292Ser	missense variant	-	NC_000001.11:g.236825347A>G	ExAC,gnomAD
rs1414665609	p.Thr293Ser	missense variant	-	NC_000001.11:g.236825350C>G	gnomAD
NCI-TCGA novel	p.Gly295Cys	missense variant	-	NC_000001.11:g.236825355G>T	NCI-TCGA
rs201871910	p.Thr300Met	missense variant	-	NC_000001.11:g.236825371C>T	ExAC,TOPMed,gnomAD
rs766371534	p.Pro301Ala	missense variant	-	NC_000001.11:g.236825373C>G	ExAC,TOPMed,gnomAD
rs766371534	p.Pro301Ser	missense variant	-	NC_000001.11:g.236825373C>T	ExAC,TOPMed,gnomAD
rs1331896515	p.Pro301His	missense variant	-	NC_000001.11:g.236825374C>A	gnomAD
RCV000523352	p.Pro301Ala	missense variant	-	NC_000001.11:g.236825373C>G	ClinVar
rs1204270455	p.Met303Val	missense variant	-	NC_000001.11:g.236825379A>G	gnomAD
rs1204270455	p.Met303Leu	missense variant	-	NC_000001.11:g.236825379A>C	gnomAD
NCI-TCGA novel	p.Met304Ile	missense variant	-	NC_000001.11:g.236825384G>C	NCI-TCGA
rs956819361	p.Lys306Arg	missense variant	-	NC_000001.11:g.236825389A>G	TOPMed,gnomAD
rs1490734103	p.Lys306Asn	missense variant	-	NC_000001.11:g.236825390G>C	gnomAD
COSM6125210	p.Lys309Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236825399G>T	NCI-TCGA Cosmic
rs1315441819	p.Met313Val	missense variant	-	NC_000001.11:g.236826838A>G	TOPMed,gnomAD
rs2229274	p.Asp314Asn	missense variant	-	NC_000001.11:g.236826841G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000755306	p.Asp314Asn	missense variant	-	NC_000001.11:g.236826841G>A	ClinVar
RCV000431890	p.Asp314Asn	missense variant	-	NC_000001.11:g.236826841G>A	ClinVar
rs772736076	p.Val317Asp	missense variant	-	NC_000001.11:g.236826851T>A	ExAC,gnomAD
rs762564903	p.Asn318Ser	missense variant	-	NC_000001.11:g.236826854A>G	ExAC,gnomAD
rs765853700	p.Ile319Thr	missense variant	-	NC_000001.11:g.236826857T>C	ExAC,gnomAD
rs1480680464	p.Ile319Val	missense variant	-	NC_000001.11:g.236826856A>G	gnomAD
rs1249121056	p.Val320Gly	missense variant	-	NC_000001.11:g.236826860T>G	gnomAD
rs774296250	p.Gly321Arg	missense variant	-	NC_000001.11:g.236826862G>A	ExAC,gnomAD
rs1443126908	p.Cys324Arg	missense variant	-	NC_000001.11:g.236826871T>C	gnomAD
rs759431422	p.His330Arg	missense variant	-	NC_000001.11:g.236826890A>G	ExAC,gnomAD
rs369312480	p.Ile331Thr	missense variant	-	NC_000001.11:g.236826893T>C	ESP,ExAC,TOPMed,gnomAD
rs759488694	p.Ile334Val	missense variant	-	NC_000001.11:g.236829193A>G	ExAC,gnomAD
rs775255641	p.Val338Met	missense variant	-	NC_000001.11:g.236829205G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys339Thr	missense variant	-	NC_000001.11:g.236829209A>C	NCI-TCGA
rs1322031909	p.Asn340Lys	missense variant	-	NC_000001.11:g.236829213T>G	gnomAD
rs760580602	p.Cys341Tyr	missense variant	-	NC_000001.11:g.236829215G>A	ExAC,TOPMed,gnomAD
rs763742963	p.Lys342Arg	missense variant	-	NC_000001.11:g.236829218A>G	ExAC
rs754098487	p.Pro343Ala	missense variant	-	NC_000001.11:g.236829220C>G	ExAC,gnomAD
rs750581310	p.Arg344Ser	missense variant	-	NC_000001.11:g.236829225A>C	ExAC
rs765431215	p.Arg344Gly	missense variant	-	NC_000001.11:g.236829223A>G	ExAC
rs1487029117	p.Arg344Thr	missense variant	-	NC_000001.11:g.236829224G>C	gnomAD
rs145006491	p.Val345Ile	missense variant	-	NC_000001.11:g.236829226G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145006491	p.Val345Phe	missense variant	-	NC_000001.11:g.236829226G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000433914	p.Val345Ile	missense variant	-	NC_000001.11:g.236829226G>A	ClinVar
rs575229292	p.Pro346Ser	missense variant	-	NC_000001.11:g.236829229C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs575229292	p.Pro346Thr	missense variant	-	NC_000001.11:g.236829229C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs575229292	p.Pro346Ala	missense variant	-	NC_000001.11:g.236829229C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs140956566	p.Pro347Ser	missense variant	-	NC_000001.11:g.236829232C>T	ESP,ExAC,TOPMed,gnomAD
rs1322419653	p.Pro347Leu	missense variant	-	NC_000001.11:g.236829233C>T	TOPMed
rs778511598	p.Ala350Val	missense variant	-	NC_000001.11:g.236829242C>T	ExAC,gnomAD
rs1281675089	p.Glu352Lys	missense variant	-	NC_000001.11:g.236829247G>A	gnomAD
COSM4029866	p.Glu352Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236829248A>C	NCI-TCGA Cosmic
COSM679987	p.Glu352Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236829248A>T	NCI-TCGA Cosmic
rs144839980	p.Gly353Ala	missense variant	-	NC_000001.11:g.236829251G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1345088979	p.His354Tyr	missense variant	-	NC_000001.11:g.236829253C>T	gnomAD
rs1041544453	p.Met355Thr	missense variant	-	NC_000001.11:g.236829257T>C	TOPMed,gnomAD
RCV000642168	p.Leu356Ser	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236829260T>C	ClinVar
rs1286773616	p.Leu356Ser	missense variant	-	NC_000001.11:g.236829260T>C	TOPMed,gnomAD
COSM1296048	p.Ser358Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236829266C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly359Asp	missense variant	-	NC_000001.11:g.236831966G>A	NCI-TCGA
rs1219794087	p.Leu360Pro	missense variant	-	NC_000001.11:g.236831969T>C	gnomAD
rs145217819	p.Phe363Leu	missense variant	-	NC_000001.11:g.236831979C>A	ESP,ExAC,gnomAD
rs776680187	p.Ile365Val	missense variant	-	NC_000001.11:g.236831983A>G	ExAC,gnomAD
rs769698965	p.Gly366Arg	missense variant	-	NC_000001.11:g.236831986G>A	ExAC,gnomAD
rs773581879	p.Pro367Leu	missense variant	-	NC_000001.11:g.236831990C>T	ExAC,TOPMed,gnomAD
COSM4029867	p.Tyr368His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236831992T>C	NCI-TCGA Cosmic
rs774244732	p.Ile374Thr	missense variant	-	NC_000001.11:g.236832011T>C	ExAC,TOPMed,gnomAD
rs774244732	p.Ile374Asn	missense variant	-	NC_000001.11:g.236832011T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly375SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.236832008_236832009insCATTT	NCI-TCGA
rs138876566	p.Arg377Cys	missense variant	-	NC_000001.11:g.236832019C>T	ESP,ExAC,TOPMed,gnomAD
rs1404315551	p.Arg377His	missense variant	-	NC_000001.11:g.236832020G>A	gnomAD
rs373066004	p.Cys378Tyr	missense variant	-	NC_000001.11:g.236832023G>A	ESP
rs1170515929	p.Val380Ala	missense variant	-	NC_000001.11:g.236832029T>C	gnomAD
rs144777709	p.Ala381Thr	missense variant	-	NC_000001.11:g.236832031G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000326202	p.Ala381Thr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236832031G>A	ClinVar
RCV000426813	p.Ala381Thr	missense variant	-	NC_000001.11:g.236832031G>A	ClinVar
COSM3485665	p.Ser383Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236832038C>T	NCI-TCGA Cosmic
rs1440609178	p.Phe386Leu	missense variant	-	NC_000001.11:g.236832046T>C	gnomAD
rs1384018969	p.Lys388Thr	missense variant	-	NC_000001.11:g.236832053A>C	gnomAD
NCI-TCGA novel	p.Ala392Ser	missense variant	-	NC_000001.11:g.236832064G>T	NCI-TCGA
rs376183112	p.Asn394Ser	missense variant	-	NC_000001.11:g.236832071A>G	ESP,ExAC,TOPMed,gnomAD
rs1166320999	p.Tyr395His	missense variant	-	NC_000001.11:g.236832073T>C	TOPMed
rs560603359	p.Tyr395Ter	stop gained	-	NC_000001.11:g.236832075T>G	1000Genomes,ExAC,gnomAD
rs138734002	p.Tyr395Cys	missense variant	-	NC_000001.11:g.236832074A>G	ESP,ExAC,TOPMed,gnomAD
rs1204013940	p.Lys403Glu	missense variant	-	NC_000001.11:g.236835565A>G	TOPMed
rs950521121	p.Val404Leu	missense variant	-	NC_000001.11:g.236835568G>C	gnomAD
rs1225305753	p.Met408Val	missense variant	-	NC_000001.11:g.236835580A>G	gnomAD
rs121913582	p.Ala410Pro	missense variant	-	NC_000001.11:g.236835586G>C	gnomAD
RCV000015358	p.Ala410Pro	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236835586G>C	ClinVar
RCV000388611	p.Gln411Pro	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236835590A>C	ClinVar
rs886046219	p.Gln411Leu	missense variant	-	NC_000001.11:g.236835590A>T	TOPMed,gnomAD
rs886046219	p.Gln411Pro	missense variant	-	NC_000001.11:g.236835590A>C	TOPMed,gnomAD
rs1341555423	p.Val415Ile	missense variant	-	NC_000001.11:g.236835601G>A	TOPMed
rs1227369146	p.Asn416Lys	missense variant	-	NC_000001.11:g.236835606C>A	TOPMed,gnomAD
rs756065494	p.Asn416Ser	missense variant	-	NC_000001.11:g.236835605A>G	ExAC,gnomAD
rs777829409	p.Gly420Val	missense variant	-	NC_000001.11:g.236835617G>T	ExAC,gnomAD
rs139054026	p.Asp423Tyr	missense variant	-	NC_000001.11:g.236835625G>T	ESP,ExAC,TOPMed
rs139054026	p.Asp423His	missense variant	-	NC_000001.11:g.236835625G>C	ESP,ExAC,TOPMed
rs374396973	p.Ser426Gly	missense variant	-	NC_000001.11:g.236835634A>G	ESP,ExAC,gnomAD
rs1359040450	p.Ser426Ile	missense variant	-	NC_000001.11:g.236835635G>T	TOPMed,gnomAD
rs1412197340	p.Met428Thr	missense variant	-	NC_000001.11:g.236835641T>C	TOPMed
rs772174532	p.Phe431Val	missense variant	-	NC_000001.11:g.236835649T>G	ExAC,gnomAD
rs1197384348	p.Asn433Ser	missense variant	-	NC_000001.11:g.236835656A>G	gnomAD
rs1244318988	p.Ile435Val	missense variant	-	NC_000001.11:g.236835661A>G	gnomAD
rs1396559785	p.Ala436Thr	missense variant	-	NC_000001.11:g.236835664G>A	TOPMed
rs368619885	p.Ser437Tyr	missense variant	-	NC_000001.11:g.236835668C>A	ESP,ExAC,TOPMed,gnomAD
RCV000277903	p.Ser437Tyr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236835668C>A	ClinVar
NCI-TCGA novel	p.Ser437Phe	missense variant	-	NC_000001.11:g.236835668C>T	NCI-TCGA
NCI-TCGA novel	p.Glu438Gly	missense variant	-	NC_000001.11:g.236835671A>G	NCI-TCGA
rs1419293638	p.Pro439Ser	missense variant	-	NC_000001.11:g.236835673C>T	gnomAD
rs770004849	p.Ala442Glu	missense variant	-	NC_000001.11:g.236835683C>A	TOPMed,gnomAD
rs765580170	p.Ala442Thr	missense variant	-	NC_000001.11:g.236835682G>A	ExAC
rs773576797	p.Ser450Ala	missense variant	-	NC_000001.11:g.236838432T>G	ExAC,TOPMed,gnomAD
rs763385094	p.Ser450Tyr	missense variant	-	NC_000001.11:g.236838433C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe453Val	missense variant	-	NC_000001.11:g.236838441T>G	NCI-TCGA
rs367759411	p.Ile456Val	missense variant	-	NC_000001.11:g.236838450A>G	ESP,TOPMed
rs1457604522	p.Cys463Arg	missense variant	-	NC_000001.11:g.236838471T>C	gnomAD
rs763596787	p.Gly465Arg	missense variant	-	NC_000001.11:g.236838477G>A	ExAC,gnomAD
rs757174271	p.Lys466Glu	missense variant	-	NC_000001.11:g.236838480A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys466SerPheSerTerUnk	frameshift	-	NC_000001.11:g.236838477G>-	NCI-TCGA
rs1186986913	p.Ile468Leu	missense variant	-	NC_000001.11:g.236838486A>C	gnomAD
COSM4029868	p.Val469Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236838490T>C	NCI-TCGA Cosmic
rs750261993	p.Ile472Val	missense variant	-	NC_000001.11:g.236838498A>G	ExAC,gnomAD
rs1203347120	p.Ser473Gly	missense variant	-	NC_000001.11:g.236838501A>G	TOPMed
NCI-TCGA novel	p.Lys475Asn	missense variant	-	NC_000001.11:g.236838509G>T	NCI-TCGA
rs780315233	p.Glu478Val	missense variant	-	NC_000001.11:g.236838517A>T	ExAC,gnomAD
rs1310485201	p.Asp480Asn	missense variant	-	NC_000001.11:g.236838522G>A	TOPMed
rs1311505928	p.Leu482Ser	missense variant	-	NC_000001.11:g.236838529T>C	gnomAD
rs781291450	p.Lys484Thr	missense variant	-	NC_000001.11:g.236838535A>C	ExAC,gnomAD
rs748624850	p.Ala485Val	missense variant	-	NC_000001.11:g.236838538C>T	ExAC,gnomAD
rs1276939443	p.Arg486Gly	missense variant	-	NC_000001.11:g.236838540A>G	gnomAD
rs1317830366	p.Lys489Arg	missense variant	-	NC_000001.11:g.236838550A>G	TOPMed,gnomAD
rs1482459791	p.Tyr491Cys	missense variant	-	NC_000001.11:g.236838556A>G	gnomAD
NCI-TCGA novel	p.Tyr491ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.236838548_236838549insA	NCI-TCGA
NCI-TCGA novel	p.Gly492SerPheSerTerUnk	frameshift	-	NC_000001.11:g.236838558_236838559GG>-	NCI-TCGA
rs150652021	p.Ala493Val	missense variant	-	NC_000001.11:g.236838562C>T	1000Genomes,ExAC
NCI-TCGA novel	p.Ala493ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.236838559_236838560insTCCCTATTTCTTCTTT	NCI-TCGA
rs775291294	p.Met495Val	missense variant	-	NC_000001.11:g.236838567A>G	ExAC,TOPMed,gnomAD
rs2229275	p.Met495Ile	missense variant	-	NC_000001.11:g.236838569G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760333844	p.Met495Lys	missense variant	-	NC_000001.11:g.236838568T>A	ExAC,gnomAD
rs1368878564	p.Val497Ala	missense variant	-	NC_000001.11:g.236838574T>C	TOPMed
rs756215823	p.Met498Ile	missense variant	-	NC_000001.11:g.236838578G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala499Thr	missense variant	-	NC_000001.11:g.236838579G>A	NCI-TCGA
rs1177021183	p.Glu503Lys	missense variant	-	NC_000001.11:g.236838591G>A	gnomAD
rs1360704340	p.Gly504Val	missense variant	-	NC_000001.11:g.236838595G>T	gnomAD
rs762838211	p.Thr509Ala	missense variant	-	NC_000001.11:g.236850353A>G	ExAC,gnomAD
rs1251015079	p.Asp510Gly	missense variant	-	NC_000001.11:g.236850357A>G	gnomAD
rs766183529	p.Thr511Lys	missense variant	-	NC_000001.11:g.236850360C>A	ExAC,TOPMed,gnomAD
rs766183529	p.Thr511Arg	missense variant	-	NC_000001.11:g.236850360C>G	ExAC,TOPMed,gnomAD
rs1016047263	p.Arg514Lys	missense variant	-	NC_000001.11:g.236850369G>A	TOPMed
rs200479834	p.Arg514Ser	missense variant	-	NC_000001.11:g.236850370A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767845497	p.Cys516Tyr	missense variant	-	NC_000001.11:g.236850375G>A	ExAC,gnomAD
rs752846930	p.Thr517Ala	missense variant	-	NC_000001.11:g.236850377A>G	ExAC,TOPMed,gnomAD
rs752846930	p.Thr517Pro	missense variant	-	NC_000001.11:g.236850377A>C	ExAC,TOPMed,gnomAD
rs756228585	p.Arg518Trp	missense variant	-	NC_000001.11:g.236850380C>T	ExAC,gnomAD
rs777929463	p.Arg518Gln	missense variant	-	NC_000001.11:g.236850381G>A	ExAC,gnomAD
COSM1340386	p.Arg518GlyPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236850378C>-	NCI-TCGA Cosmic
rs1308888319	p.Ala519Thr	missense variant	-	NC_000001.11:g.236850383G>A	TOPMed,gnomAD
rs1308888319	p.Ala519Ser	missense variant	-	NC_000001.11:g.236850383G>T	TOPMed,gnomAD
rs1242741686	p.Tyr520Cys	missense variant	-	NC_000001.11:g.236850387A>G	gnomAD
rs757891309	p.His521Tyr	missense variant	-	NC_000001.11:g.236850389C>T	ExAC,TOPMed,gnomAD
rs757891309	p.His521Asn	missense variant	-	NC_000001.11:g.236850389C>A	ExAC,TOPMed,gnomAD
rs372363134	p.Leu522Val	missense variant	-	NC_000001.11:g.236850392C>G	ESP,TOPMed
rs1378293350	p.Leu523His	missense variant	-	NC_000001.11:g.236850396T>A	TOPMed
rs1418837838	p.Leu523Phe	missense variant	-	NC_000001.11:g.236850395C>T	TOPMed
rs199700767	p.Lys525Asn	missense variant	-	NC_000001.11:g.236850403A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000642166	p.Lys525Asn	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236850403A>T	ClinVar
rs140183705	p.Asn532Asp	missense variant	-	NC_000001.11:g.236850422A>G	ESP,ExAC,TOPMed,gnomAD
rs747690350	p.Asp533Glu	missense variant	-	NC_000001.11:g.236850427C>G	ExAC,TOPMed,gnomAD
rs769378343	p.Phe536Leu	missense variant	-	NC_000001.11:g.236850436T>G	ExAC,TOPMed,gnomAD
rs1256175038	p.Asp537Ala	missense variant	-	NC_000001.11:g.236850438A>C	gnomAD
rs200362373	p.Ile543Thr	missense variant	-	NC_000001.11:g.236850456T>C	ExAC,TOPMed,gnomAD
rs1284394856	p.Glu548Asp	missense variant	-	NC_000001.11:g.236850472G>T	TOPMed
rs1171736020	p.Glu549Asp	missense variant	-	NC_000001.11:g.236850475A>T	TOPMed,gnomAD
rs1351941930	p.His550Pro	missense variant	-	NC_000001.11:g.236850477A>C	TOPMed
rs151031178	p.Asn551Asp	missense variant	-	NC_000001.11:g.236850479A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn551His	missense variant	-	NC_000001.11:g.236850479A>C	NCI-TCGA
rs767156705	p.Tyr553His	missense variant	-	NC_000001.11:g.236850485T>C	ExAC,gnomAD
rs752966218	p.Tyr553Phe	missense variant	-	NC_000001.11:g.236850486A>T	ExAC,gnomAD
rs1407165754	p.Ile555Val	missense variant	-	NC_000001.11:g.236850491A>G	TOPMed,gnomAD
rs760764612	p.Phe557Ile	missense variant	-	NC_000001.11:g.236850497T>A	ExAC,gnomAD
rs1173247715	p.Thr567Ala	missense variant	-	NC_000001.11:g.236852524A>G	TOPMed,gnomAD
rs905213881	p.Ala571Thr	missense variant	-	NC_000001.11:g.236852536G>A	TOPMed,gnomAD
rs776985001	p.Ile573Thr	missense variant	-	NC_000001.11:g.236852543T>C	ExAC,gnomAD
rs1002609998	p.Ser574Asn	missense variant	-	NC_000001.11:g.236852546G>A	TOPMed
rs942535205	p.Gly575Arg	missense variant	-	NC_000001.11:g.236852548G>A	gnomAD
COSM425680	p.Ser578Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236852558C>T	NCI-TCGA Cosmic
rs750970961	p.Ser581Phe	missense variant	-	NC_000001.11:g.236852567C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser583Cys	missense variant	-	NC_000001.11:g.236852573C>G	NCI-TCGA
rs766888517	p.Phe584Ser	missense variant	-	NC_000001.11:g.236852576T>C	ExAC,gnomAD
rs1479249107	p.Phe584Leu	missense variant	-	NC_000001.11:g.236852577C>G	TOPMed,gnomAD
rs1424769753	p.Arg585Gln	missense variant	-	NC_000001.11:g.236852579G>A	gnomAD
rs121913580	p.Arg585Ter	stop gained	-	NC_000001.11:g.236852578C>T	ExAC,gnomAD
RCV000015356	p.Arg585Ter	nonsense	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236852578C>T	ClinVar
NCI-TCGA novel	p.Glu588Ter	stop gained	-	NC_000001.11:g.236852587G>T	NCI-TCGA
COSM282922	p.Arg591Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236852597G>A	NCI-TCGA Cosmic
rs777459947	p.Arg591Ter	stop gained	-	NC_000001.11:g.236852596C>T	ExAC,TOPMed,gnomAD
rs531465813	p.Met594Val	missense variant	-	NC_000001.11:g.236852605A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe598SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.236852615T>-	NCI-TCGA
NCI-TCGA novel	p.Leu599Phe	missense variant	-	NC_000001.11:g.236852620C>T	NCI-TCGA
rs771585676	p.His601Arg	missense variant	-	NC_000001.11:g.236852627A>G	TOPMed,gnomAD
rs1438404808	p.Lys604Glu	missense variant	-	NC_000001.11:g.236852635A>G	gnomAD
rs756760475	p.Lys604Asn	missense variant	-	NC_000001.11:g.236852637G>C	ExAC,gnomAD
COSM1296049	p.Gly606Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236852951G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met607Leu	missense variant	-	NC_000001.11:g.236852954A>T	NCI-TCGA
rs769950851	p.Val612Ala	missense variant	-	NC_000001.11:g.236852970T>C	ExAC,gnomAD
rs762999544	p.Asn616Ser	missense variant	-	NC_000001.11:g.236852982A>G	ExAC,TOPMed,gnomAD
rs1410795354	p.Pro618Leu	missense variant	-	NC_000001.11:g.236852988C>T	TOPMed
NCI-TCGA novel	p.Pro618His	missense variant	-	NC_000001.11:g.236852988C>A	NCI-TCGA
rs557853306	p.Val619Leu	missense variant	-	NC_000001.11:g.236852990G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs557853306	p.Val619Leu	missense variant	-	NC_000001.11:g.236852990G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs61736440	p.Asp621Gly	missense variant	-	NC_000001.11:g.236852997A>G	ESP,ExAC,TOPMed,gnomAD
rs767887287	p.His624Arg	missense variant	-	NC_000001.11:g.236853006A>G	ExAC,TOPMed,gnomAD
COSM3485666	p.His624Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236853005C>T	NCI-TCGA Cosmic
rs767887287	p.His624Pro	missense variant	-	NC_000001.11:g.236853006A>C	ExAC,TOPMed,gnomAD
rs1333077382	p.Lys625Arg	missense variant	-	NC_000001.11:g.236853009A>G	gnomAD
rs994058849	p.Gln629Ter	stop gained	-	NC_000001.11:g.236853020C>T	TOPMed,gnomAD
rs764859650	p.Gln629Arg	missense variant	-	NC_000001.11:g.236853021A>G	ExAC,gnomAD
rs994058849	p.Gln629Lys	missense variant	-	NC_000001.11:g.236853020C>A	TOPMed,gnomAD
rs996573287	p.Gln629His	missense variant	-	NC_000001.11:g.236853022G>T	TOPMed
rs1241969409	p.Asp633Tyr	missense variant	-	NC_000001.11:g.236853032G>T	gnomAD
rs1284198075	p.Leu634Phe	missense variant	-	NC_000001.11:g.236853035C>T	gnomAD
rs1319174926	p.Leu634Pro	missense variant	-	NC_000001.11:g.236853036T>C	gnomAD
rs750036310	p.Ile635Leu	missense variant	-	NC_000001.11:g.236853038A>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp636Ter	stop gained	-	NC_000001.11:g.236853043G>A	NCI-TCGA
rs757855026	p.Trp636Arg	missense variant	-	NC_000001.11:g.236853041T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala642Thr	missense variant	-	NC_000001.11:g.236853059G>A	NCI-TCGA
rs886046220	p.Arg648Cys	missense variant	-	NC_000001.11:g.236853077C>T	TOPMed
rs751565093	p.Arg648His	missense variant	-	NC_000001.11:g.236853078G>A	ExAC,TOPMed,gnomAD
RCV000281450	p.Arg648Cys	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236853077C>T	ClinVar
COSM425681	p.Gln653Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236859836C>A	NCI-TCGA Cosmic
rs562769000	p.Gln653His	missense variant	-	NC_000001.11:g.236859838A>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM425682	p.Gly654Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236859840G>C	NCI-TCGA Cosmic
rs1340443868	p.Thr655Ile	missense variant	-	NC_000001.11:g.236859843C>T	gnomAD
COSM906096	p.Gly656Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236859845G>T	NCI-TCGA Cosmic
rs1303828721	p.Lys658Arg	missense variant	-	NC_000001.11:g.236859852A>G	gnomAD
rs777583638	p.Lys659Glu	missense variant	-	NC_000001.11:g.236859854A>G	ExAC,gnomAD
rs749490579	p.Lys659Arg	missense variant	-	NC_000001.11:g.236859855A>G	ExAC,gnomAD
rs779073737	p.Val660Ile	missense variant	-	NC_000001.11:g.236859857G>A	ExAC,gnomAD
rs148897041	p.Ile661Thr	missense variant	-	NC_000001.11:g.236859861T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148897041	p.Ile661Ser	missense variant	-	NC_000001.11:g.236859861T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141614780	p.Gln662Ter	stop gained	-	NC_000001.11:g.236859863C>T	ESP,ExAC,TOPMed,gnomAD
rs775984505	p.Asp664Glu	missense variant	-	NC_000001.11:g.236859871T>A	ExAC,TOPMed,gnomAD
rs1485490753	p.Asp664Gly	missense variant	-	NC_000001.11:g.236859870A>G	gnomAD
rs1431166735	p.Trp666Cys	missense variant	-	NC_000001.11:g.236859877G>C	gnomAD
COSM6062061	p.Trp666Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236859877G>T	NCI-TCGA Cosmic
rs1396173660	p.Trp666Ter	stop gained	-	NC_000001.11:g.236859876G>A	gnomAD
rs1192633508	p.Arg667Thr	missense variant	-	NC_000001.11:g.236859879G>C	gnomAD
RCV000481590	p.Asn668Ter	frameshift	-	NC_000001.11:g.236859882del	ClinVar
rs768929086	p.Pro670Arg	missense variant	-	NC_000001.11:g.236859888C>G	ExAC,gnomAD
rs1380513636	p.Pro670Ser	missense variant	-	NC_000001.11:g.236859887C>T	gnomAD
rs768929086	p.Pro670Leu	missense variant	-	NC_000001.11:g.236859888C>T	ExAC,gnomAD
rs751839046	p.Val671Ile	missense variant	-	NC_000001.11:g.236859890G>A	ExAC,gnomAD
rs142774813	p.Glu672Lys	missense variant	-	NC_000001.11:g.236859893G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000497911	p.Glu672Lys	missense variant	-	NC_000001.11:g.236859893G>A	ClinVar
rs150058137	p.Arg674Cys	missense variant	-	NC_000001.11:g.236859899C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774231870	p.Arg674His	missense variant	-	NC_000001.11:g.236859900G>A	TOPMed
rs150058137	p.Arg674Cys	missense variant	-	NC_000001.11:g.236859899C>T	NCI-TCGA
rs759130222	p.Ala678Ser	missense variant	-	NC_000001.11:g.236859911G>T	ExAC,gnomAD
rs759130222	p.Ala678Ser	missense variant	-	NC_000001.11:g.236859911G>T	NCI-TCGA
rs1435045766	p.Leu679Val	missense variant	-	NC_000001.11:g.236859914C>G	TOPMed
NCI-TCGA novel	p.Leu679ThrPheSerTerUnk	stop gained	-	NC_000001.11:g.236859912_236859913insAACATTAATCCAGCCGTCATAAATTCGTTAAT	NCI-TCGA
rs1363185369	p.Val680Glu	missense variant	-	NC_000001.11:g.236859918T>A	TOPMed
rs113914406	p.Gly682Asp	missense variant	-	NC_000001.11:g.236861126G>A	gnomAD
rs113914406	p.Gly682Val	missense variant	-	NC_000001.11:g.236861126G>T	gnomAD
rs1483332114	p.Gly682Cys	missense variant	-	NC_000001.11:g.236861125G>T	gnomAD
rs1171964412	p.Glu684Ter	stop gained	-	NC_000001.11:g.236861131G>T	TOPMed,gnomAD
rs1171964412	p.Glu684Lys	missense variant	-	NC_000001.11:g.236861131G>A	TOPMed,gnomAD
rs568232175	p.His686Asn	missense variant	-	NC_000001.11:g.236861137C>A	1000Genomes,gnomAD
rs758672967	p.His686Arg	missense variant	-	NC_000001.11:g.236861138A>G	ExAC,gnomAD
rs747181368	p.Ile687Thr	missense variant	-	NC_000001.11:g.236861141T>C	ExAC,gnomAD
rs780108847	p.Ile687Val	missense variant	-	NC_000001.11:g.236861140A>G	ExAC,TOPMed,gnomAD
rs1290386215	p.Ile688Thr	missense variant	-	NC_000001.11:g.236861144T>C	TOPMed
rs1453079051	p.Ile688Phe	missense variant	-	NC_000001.11:g.236861143A>T	TOPMed
rs1204463525	p.Glu689Ter	stop gained	-	NC_000001.11:g.236861146G>T	TOPMed
rs1354842949	p.Glu689Gly	missense variant	-	NC_000001.11:g.236861147A>G	gnomAD
rs1414123480	p.Thr691Ile	missense variant	-	NC_000001.11:g.236861153C>T	gnomAD
rs1348533991	p.Glu692Val	missense variant	-	NC_000001.11:g.236861156A>T	TOPMed
rs781728060	p.Glu693Gly	missense variant	-	NC_000001.11:g.236861159A>G	ExAC,gnomAD
rs1212588170	p.Leu696Phe	missense variant	-	NC_000001.11:g.236861169A>C	gnomAD
rs1230240879	p.Asn697Lys	missense variant	-	NC_000001.11:g.236861172C>A	TOPMed
rs181920088	p.Lys699Glu	missense variant	-	NC_000001.11:g.236861176A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys700IlePheSerTerUnk	frameshift	-	NC_000001.11:g.236861174_236861175AA>-	NCI-TCGA
rs1306843324	p.Lys700Gln	missense variant	-	NC_000001.11:g.236861179A>C	TOPMed,gnomAD
rs772951826	p.Lys700AsnPheSerTerUnk	frameshift	-	NC_000001.11:g.236861174A>-	NCI-TCGA,NCI-TCGA Cosmic
rs770312323	p.Tyr701Asn	missense variant	-	NC_000001.11:g.236861182T>A	ExAC,TOPMed,gnomAD
rs1211740926	p.Pro702Thr	missense variant	-	NC_000001.11:g.236861185C>A	gnomAD
rs1434632252	p.Pro702His	missense variant	-	NC_000001.11:g.236861186C>A	TOPMed
rs778233369	p.Arg703Gln	missense variant	-	NC_000001.11:g.236861189G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg703Leu	missense variant	-	NC_000001.11:g.236861189G>T	NCI-TCGA
RCV000015352	p.Leu705Ter	frameshift	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236861193_236861194TC[1]	ClinVar
rs147670189	p.Asn706Ser	missense variant	-	NC_000001.11:g.236861198A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs557777496	p.Ile707Val	missense variant	-	NC_000001.11:g.236861200A>G	1000Genomes,TOPMed,gnomAD
COSM6125209	p.Ile708Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236861205T>G	NCI-TCGA Cosmic
rs774998091	p.Ile708Val	missense variant	-	NC_000001.11:g.236861203A>G	ExAC,gnomAD
rs576084212	p.Met716Ile	missense variant	-	NC_000001.11:g.236861229G>A	1000Genomes
NCI-TCGA novel	p.Met716Ile	missense variant	-	NC_000001.11:g.236861229G>T	NCI-TCGA
rs537133947	p.Lys717Ile	missense variant	-	NC_000001.11:g.236861231A>T	1000Genomes,ExAC,gnomAD
COSM4029871	p.Val719Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236861237T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val719Ile	missense variant	-	NC_000001.11:g.236861236G>A	NCI-TCGA
COSM906099	p.Asp721Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236861242G>T	NCI-TCGA Cosmic
rs190455607	p.Asp721His	missense variant	-	NC_000001.11:g.236861242G>C	1000Genomes
rs1553321807	p.Leu722Pro	missense variant	-	NC_000001.11:g.236861246T>C	-
RCV000642165	p.Leu722Pro	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236861246T>C	ClinVar
rs761693980	p.Gly724Arg	missense variant	-	NC_000001.11:g.236861251G>A	ExAC
rs144374509	p.Gly724Ala	missense variant	-	NC_000001.11:g.236861252G>C	ESP,ExAC,TOPMed,gnomAD
rs1162023924	p.Gly726Ala	missense variant	-	NC_000001.11:g.236861258G>C	TOPMed
rs1374925058	p.Lys727Arg	missense variant	-	NC_000001.11:g.236861261A>G	gnomAD
rs759914760	p.Met728Val	missense variant	-	NC_000001.11:g.236861263A>G	TOPMed
NCI-TCGA novel	p.Phe729Leu	missense variant	-	NC_000001.11:g.236861266T>C	NCI-TCGA
rs1428030950	p.Pro731Leu	missense variant	-	NC_000001.11:g.236861273C>T	TOPMed
rs1286726397	p.Ile734Val	missense variant	-	NC_000001.11:g.236862239A>G	TOPMed
rs200803446	p.Arg738Trp	missense variant	-	NC_000001.11:g.236862251C>T	ExAC,TOPMed,gnomAD
rs776057319	p.Arg738Pro	missense variant	-	NC_000001.11:g.236862252G>C	ExAC,TOPMed,gnomAD
rs776057319	p.Arg738Gln	missense variant	-	NC_000001.11:g.236862252G>A	ExAC,TOPMed,gnomAD
rs1345387459	p.Met740Val	missense variant	-	NC_000001.11:g.236862257A>G	TOPMed,gnomAD
rs569803081	p.Lys742Arg	missense variant	-	NC_000001.11:g.236862264A>G	1000Genomes,ExAC,gnomAD
rs375809201	p.Ala743Gly	missense variant	-	NC_000001.11:g.236862267C>G	ESP,ExAC,TOPMed,gnomAD
rs60599724	p.Gly745Asp	missense variant	-	NC_000001.11:g.236862273G>A	TOPMed,gnomAD
rs60599724	p.Gly745Ala	missense variant	-	NC_000001.11:g.236862273G>C	TOPMed,gnomAD
rs370203138	p.Leu747Pro	missense variant	-	NC_000001.11:g.236862279T>C	ESP,ExAC,TOPMed,gnomAD
rs1409075366	p.Ile748Val	missense variant	-	NC_000001.11:g.236862281A>G	TOPMed
rs1037788544	p.Ile748Thr	missense variant	-	NC_000001.11:g.236862282T>C	gnomAD
rs766018906	p.Pro749Leu	missense variant	-	NC_000001.11:g.236862285C>T	ExAC,gnomAD
RCV000372535	p.Pro749Ser	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236862284C>T	ClinVar
rs142250261	p.Pro749Ser	missense variant	-	NC_000001.11:g.236862284C>T	ESP,ExAC,TOPMed,gnomAD
RCV000756361	p.Pro749Ser	missense variant	-	NC_000001.11:g.236862284C>T	ClinVar
COSM4916945	p.Met751Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236862290A>T	NCI-TCGA Cosmic
rs751836621	p.Lys753Glu	missense variant	-	NC_000001.11:g.236862296A>G	ExAC,gnomAD
rs759627208	p.Thr758Ala	missense variant	-	NC_000001.11:g.236862311A>G	ExAC,gnomAD
rs537057892	p.Arg759Thr	missense variant	-	NC_000001.11:g.236862315G>C	1000Genomes
rs752860802	p.Arg759Ser	missense variant	-	NC_000001.11:g.236862316A>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg759Ile	missense variant	-	NC_000001.11:g.236862315G>T	NCI-TCGA
rs1406916579	p.Val760Leu	missense variant	-	NC_000001.11:g.236862317G>C	gnomAD
rs1406916579	p.Val760Leu	missense variant	-	NC_000001.11:g.236862317G>T	gnomAD
NCI-TCGA novel	p.Val760Met	missense variant	-	NC_000001.11:g.236862317G>A	NCI-TCGA
rs372599491	p.Leu761Phe	missense variant	-	NC_000001.11:g.236862320C>T	ESP,TOPMed
rs1447100033	p.Gly763Asp	missense variant	-	NC_000001.11:g.236862327G>A	gnomAD
rs1393393334	p.Gly763Ser	missense variant	-	NC_000001.11:g.236862326G>A	TOPMed,gnomAD
rs1332877404	p.Thr764Lys	missense variant	-	NC_000001.11:g.236862330C>A	gnomAD
rs931972359	p.Val765Ala	missense variant	-	NC_000001.11:g.236862333T>C	gnomAD
rs1051979463	p.Glu767Lys	missense variant	-	NC_000001.11:g.236862338G>A	gnomAD
rs1051979463	p.Glu767Gln	missense variant	-	NC_000001.11:g.236862338G>C	gnomAD
rs1304774938	p.Asp769His	missense variant	-	NC_000001.11:g.236863454G>C	TOPMed
rs1201199584	p.Pro770Leu	missense variant	-	NC_000001.11:g.236863458C>T	gnomAD
rs370740550	p.Gln772Glu	missense variant	-	NC_000001.11:g.236863463C>G	ESP,ExAC,TOPMed,gnomAD
rs750824195	p.Gln772Arg	missense variant	-	NC_000001.11:g.236863464A>G	ExAC,TOPMed,gnomAD
rs201755946	p.Thr774Ile	missense variant	-	NC_000001.11:g.236863470C>T	ESP,TOPMed,gnomAD
rs376941088	p.Ile775Met	missense variant	-	NC_000001.11:g.236863474C>G	ESP,TOPMed,gnomAD
rs542575330	p.Val776Leu	missense variant	-	NC_000001.11:g.236863475G>T	1000Genomes,TOPMed,gnomAD
rs542575330	p.Val776Met	missense variant	-	NC_000001.11:g.236863475G>A	1000Genomes,TOPMed,gnomAD
rs542575330	p.Val776Met	missense variant	-	NC_000001.11:g.236863475G>A	NCI-TCGA
rs780836825	p.Leu777Pro	missense variant	-	NC_000001.11:g.236863479T>C	ExAC,gnomAD
rs758778075	p.Leu777Val	missense variant	-	NC_000001.11:g.236863478C>G	ExAC,gnomAD
rs747734704	p.Val780Ile	missense variant	-	NC_000001.11:g.236863487G>A	ExAC,gnomAD
rs755650478	p.Lys781Glu	missense variant	-	NC_000001.11:g.236863490A>G	ExAC
rs1376758701	p.Asp783Asn	missense variant	-	NC_000001.11:g.236863496G>A	TOPMed,gnomAD
rs940351904	p.Val784Leu	missense variant	-	NC_000001.11:g.236863499G>T	TOPMed
rs940351904	p.Val784Met	missense variant	-	NC_000001.11:g.236863499G>A	TOPMed
rs940351904	p.Val784Met	missense variant	-	NC_000001.11:g.236863499G>A	NCI-TCGA
rs1228248518	p.Asp786Gly	missense variant	-	NC_000001.11:g.236863506A>G	TOPMed
rs989942721	p.Ile787Lys	missense variant	-	NC_000001.11:g.236863509T>A	TOPMed
rs1271358776	p.Lys789Gln	missense variant	-	NC_000001.11:g.236863514A>C	TOPMed
rs1339561774	p.Ile791Thr	missense variant	-	NC_000001.11:g.236863521T>C	TOPMed
rs1402296900	p.Val792Ala	missense variant	-	NC_000001.11:g.236863524T>C	gnomAD
rs1338672336	p.Val792Ile	missense variant	-	NC_000001.11:g.236863523G>A	gnomAD
rs754779929	p.Val794Ala	missense variant	-	NC_000001.11:g.236863530T>C	ExAC,gnomAD
rs771840730	p.Phe801Leu	missense variant	-	NC_000001.11:g.236863552C>G	ExAC,gnomAD
rs138695265	p.Arg802Ter	stop gained	-	NC_000001.11:g.236863553C>T	ESP,ExAC,TOPMed,gnomAD
rs760932771	p.Arg802Gln	missense variant	-	NC_000001.11:g.236863554G>A	ExAC,gnomAD
rs138695265	p.Arg802Ter	stop gained	-	NC_000001.11:g.236863553C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Val803Asp	missense variant	-	NC_000001.11:g.236873775T>A	NCI-TCGA
NCI-TCGA novel	p.Val803Ile	missense variant	-	NC_000001.11:g.236873774G>A	NCI-TCGA
rs147387989	p.Ile804Thr	missense variant	-	NC_000001.11:g.236873778T>C	ESP,ExAC,TOPMed,gnomAD
rs756777494	p.Ile804Val	missense variant	-	NC_000001.11:g.236873777A>G	ExAC,gnomAD
rs1466875330	p.Leu806Phe	missense variant	-	NC_000001.11:g.236873785A>T	gnomAD
rs745749921	p.Val808Ile	missense variant	-	NC_000001.11:g.236873789G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val808Ala	missense variant	-	NC_000001.11:g.236873790T>C	NCI-TCGA
rs1460525335	p.Met809Val	missense variant	-	NC_000001.11:g.236873792A>G	TOPMed
rs780045682	p.Thr810Ile	missense variant	-	NC_000001.11:g.236873796C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro811Leu	missense variant	-	NC_000001.11:g.236873799C>T	NCI-TCGA
NCI-TCGA novel	p.Pro811Ser	missense variant	-	NC_000001.11:g.236873798C>T	NCI-TCGA
rs371648406	p.Asp813Val	missense variant	-	NC_000001.11:g.236873805A>T	ESP,TOPMed
COSM906101	p.Lys814Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236873809G>T	NCI-TCGA Cosmic
rs1328313900	p.Leu816Pro	missense variant	-	NC_000001.11:g.236873814T>C	TOPMed,gnomAD
rs1440455183	p.Ala819Thr	missense variant	-	NC_000001.11:g.236873822G>A	gnomAD
rs374681119	p.Ala819Gly	missense variant	-	NC_000001.11:g.236873823C>G	ESP,ExAC,TOPMed,gnomAD
rs1375814843	p.Lys823Arg	missense variant	-	NC_000001.11:g.236873835A>G	gnomAD
rs773627251	p.Lys823Gln	missense variant	-	NC_000001.11:g.236873834A>C	ExAC,gnomAD
rs1304837503	p.Lys823Asn	missense variant	-	NC_000001.11:g.236873836A>C	gnomAD
rs1316249870	p.Ala824Thr	missense variant	-	NC_000001.11:g.236873837G>A	gnomAD
rs1359827243	p.Asp825Val	missense variant	-	NC_000001.11:g.236874726A>T	TOPMed,gnomAD
rs1314739737	p.Ile826Arg	missense variant	-	NC_000001.11:g.236874729T>G	gnomAD
rs1314739737	p.Ile826Thr	missense variant	-	NC_000001.11:g.236874729T>C	gnomAD
rs1314739737	p.Ile826Thr	missense variant	-	NC_000001.11:g.236874729T>C	NCI-TCGA
rs1413989228	p.Gly828Ser	missense variant	-	NC_000001.11:g.236874734G>A	gnomAD
rs1270571575	p.Leu829Met	missense variant	-	NC_000001.11:g.236874737C>A	gnomAD
rs1270571575	p.Leu829Met	missense variant	-	NC_000001.11:g.236874737C>A	NCI-TCGA
NCI-TCGA novel	p.Ser830Pro	missense variant	-	NC_000001.11:g.236874740T>C	NCI-TCGA
NCI-TCGA novel	p.Ser830Leu	missense variant	-	NC_000001.11:g.236874741C>T	NCI-TCGA
COSM295340	p.Thr834AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236874751_236874752insA	NCI-TCGA Cosmic
rs1363763408	p.Pro835Ala	missense variant	-	NC_000001.11:g.236874755C>G	gnomAD
rs554037313	p.Pro835Leu	missense variant	-	NC_000001.11:g.236874756C>T	-
rs554037313	p.Pro835Leu	missense variant	-	NC_000001.11:g.236874756C>T	NCI-TCGA
rs759907601	p.Asp838Asn	missense variant	-	NC_000001.11:g.236874764G>A	ExAC,TOPMed,gnomAD
rs767855659	p.Ala844Val	missense variant	-	NC_000001.11:g.236874783C>T	ExAC,gnomAD
rs1348066051	p.Lys845Arg	missense variant	-	NC_000001.11:g.236874786A>G	gnomAD
rs1245238169	p.Glu848Gly	missense variant	-	NC_000001.11:g.236874795A>G	TOPMed
rs753462562	p.Ile852Val	missense variant	-	NC_000001.11:g.236874806A>G	ExAC,gnomAD
rs1042034066	p.Ile854Val	missense variant	-	NC_000001.11:g.236874812A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile858Asn	missense variant	-	NC_000001.11:g.236874825T>A	NCI-TCGA
rs1356020244	p.Ala861Thr	missense variant	-	NC_000001.11:g.236874833G>A	gnomAD
rs750017801	p.Thr863Ala	missense variant	-	NC_000001.11:g.236874839A>G	ExAC,gnomAD
rs1278918361	p.Thr866Asn	missense variant	-	NC_000001.11:g.236880757C>A	TOPMed
rs775964876	p.Thr868Ala	missense variant	-	NC_000001.11:g.236880762A>G	ExAC,gnomAD
rs1394559035	p.Ala869Thr	missense variant	-	NC_000001.11:g.236880765G>A	gnomAD
rs1394559035	p.Ala869Thr	missense variant	-	NC_000001.11:g.236880765G>A	NCI-TCGA
NCI-TCGA novel	p.Ala869Ser	missense variant	-	NC_000001.11:g.236880765G>T	NCI-TCGA
COSM679982	p.Lys871Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236880771A>C	NCI-TCGA Cosmic
rs764999575	p.Pro874Leu	missense variant	-	NC_000001.11:g.236880781C>T	ExAC,gnomAD
rs764999575	p.Pro874Leu	missense variant	-	NC_000001.11:g.236880781C>T	NCI-TCGA,NCI-TCGA Cosmic
rs973413944	p.Arg875Ser	missense variant	-	NC_000001.11:g.236880785A>T	TOPMed
rs1398789197	p.Arg875Thr	missense variant	-	NC_000001.11:g.236880784G>C	TOPMed,gnomAD
rs762562065	p.Pro879Ser	missense variant	-	NC_000001.11:g.236880795C>T	ExAC,gnomAD
rs1354755505	p.Val880Ile	missense variant	-	NC_000001.11:g.236880798G>A	TOPMed
NCI-TCGA novel	p.Val880Ala	missense variant	-	NC_000001.11:g.236880799T>C	NCI-TCGA
VAR_004328	p.Ile881del	inframe_deletion	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]	-	UniProt
rs755016532	p.Val883Ile	missense variant	-	NC_000001.11:g.236880807G>A	ExAC,gnomAD
rs767324169	p.Leu884Pro	missense variant	-	NC_000001.11:g.236880811T>C	ExAC,TOPMed,gnomAD
rs1369682236	p.Leu884Val	missense variant	-	NC_000001.11:g.236880810C>G	gnomAD
NCI-TCGA novel	p.Leu884TrpPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.236880809C>-	NCI-TCGA
NCI-TCGA novel	p.Asp885Tyr	missense variant	-	NC_000001.11:g.236880813G>T	NCI-TCGA
rs1349129209	p.Ala886Thr	missense variant	-	NC_000001.11:g.236880816G>A	gnomAD
rs1223665501	p.Ala886Val	missense variant	-	NC_000001.11:g.236880817C>T	gnomAD
rs201521817	p.Lys888Arg	missense variant	-	NC_000001.11:g.236880823A>G	ExAC,gnomAD
rs201521817	p.Lys888Arg	missense variant	-	NC_000001.11:g.236880823A>G	NCI-TCGA
RCV000176521	p.Val890Ter	frameshift	-	NC_000001.11:g.236880827_236880828TG[1]	ClinVar
rs1437259901	p.Cys893Tyr	missense variant	-	NC_000001.11:g.236885122G>A	gnomAD
rs757522886	p.Ser894Phe	missense variant	-	NC_000001.11:g.236885125C>T	ExAC,gnomAD
rs146569329	p.Gln895Pro	missense variant	-	NC_000001.11:g.236885128A>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gln895His	missense variant	-	NC_000001.11:g.236885129G>T	NCI-TCGA
rs147762307	p.Leu896Val	missense variant	-	NC_000001.11:g.236885130C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs758351892	p.Asn900Ser	missense variant	-	NC_000001.11:g.236885143A>G	ExAC,gnomAD
rs149165917	p.Asp903Gly	missense variant	-	NC_000001.11:g.236885152A>G	ESP,ExAC,TOPMed,gnomAD
rs1169220676	p.Glu904Lys	missense variant	-	NC_000001.11:g.236885154G>A	gnomAD
rs1169220676	p.Glu904Ter	stop gained	-	NC_000001.11:g.236885154G>T	gnomAD
rs1408861537	p.Ile909Val	missense variant	-	NC_000001.11:g.236885169A>G	gnomAD
rs748496316	p.Met910Val	missense variant	-	NC_000001.11:g.236885172A>G	ExAC,TOPMed,gnomAD
rs1413424353	p.Glu911Val	missense variant	-	NC_000001.11:g.236885176A>T	gnomAD
NCI-TCGA novel	p.Glu912Ter	stop gained	-	NC_000001.11:g.236885178G>T	NCI-TCGA
rs1553327531	p.Tyr913Phe	missense variant	-	NC_000001.11:g.236885182A>T	-
RCV000514691	p.Tyr913Phe	missense variant	-	NC_000001.11:g.236885182A>T	ClinVar
rs1293098779	p.Glu914Ala	missense variant	-	NC_000001.11:g.236885185A>C	gnomAD
rs977928036	p.Asp915Val	missense variant	-	NC_000001.11:g.236885188A>T	TOPMed
rs1327327915	p.Ile916Val	missense variant	-	NC_000001.11:g.236885190A>G	gnomAD
rs923734948	p.Asp919His	missense variant	-	NC_000001.11:g.236885199G>C	TOPMed,gnomAD
rs1805087	p.Asp919Gly	missense variant	-	NC_000001.11:g.236885200A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM290264	p.Asp919Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236885199G>A	NCI-TCGA Cosmic
RCV000015355	p.Asp919Gly	missense variant	Neural tube defects, folate-sensitive, susceptibility to	NC_000001.11:g.236885200A>G	ClinVar
rs1805087	p.Asp919Gly	missense variant	-	NC_000001.11:g.236885200A>G	UniProt,dbSNP
VAR_004329	p.Asp919Gly	missense variant	-	NC_000001.11:g.236885200A>G	UniProt
rs121913579	p.His920Tyr	missense variant	-	NC_000001.11:g.236885202C>T	gnomAD
rs121913579	p.His920Asp	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236885202C>G	UniProt,dbSNP
VAR_004330	p.His920Asp	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236885202C>G	UniProt
rs121913579	p.His920Asp	missense variant	-	NC_000001.11:g.236885202C>G	gnomAD
RCV000015350	p.His920Asp	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236885202C>G	ClinVar
rs774131379	p.Leu924Val	missense variant	-	NC_000001.11:g.236885214C>G	ExAC,gnomAD
rs1464185474	p.Glu926Ter	stop gained	-	NC_000001.11:g.236886292G>T	TOPMed,gnomAD
rs1464185474	p.Glu926Lys	missense variant	-	NC_000001.11:g.236886292G>A	TOPMed,gnomAD
rs1272883129	p.Arg927Lys	missense variant	-	NC_000001.11:g.236886296G>A	TOPMed
rs1490057442	p.Leu930Ter	stop gained	-	NC_000001.11:g.236886305T>G	gnomAD
NCI-TCGA novel	p.Leu930Phe	missense variant	-	NC_000001.11:g.236886306A>T	NCI-TCGA
rs745470236	p.Pro931Ser	missense variant	-	NC_000001.11:g.236886307C>T	ExAC,gnomAD
COSM4029875	p.Ser933Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236886313A>C	NCI-TCGA Cosmic
rs898188536	p.Gln934Pro	missense variant	-	NC_000001.11:g.236886317A>C	TOPMed
NCI-TCGA novel	p.Gln934Glu	missense variant	-	NC_000001.11:g.236886316C>G	NCI-TCGA
rs771634129	p.Arg936Lys	missense variant	-	NC_000001.11:g.236886323G>A	ExAC,gnomAD
rs774910076	p.Ser938Asn	missense variant	-	NC_000001.11:g.236886329G>A	ExAC,gnomAD
rs774910076	p.Ser938Ile	missense variant	-	NC_000001.11:g.236886329G>T	ExAC,gnomAD
rs113042166	p.Gly939Cys	missense variant	-	NC_000001.11:g.236886331G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113042166	p.Gly939Arg	missense variant	-	NC_000001.11:g.236886331G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000310738	p.Gly939Arg	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236886331G>C	ClinVar
rs1386565264	p.Gln941Ter	stop gained	-	NC_000001.11:g.236886337C>T	TOPMed
rs761601954	p.Gln941Leu	missense variant	-	NC_000001.11:g.236886338A>T	ExAC,TOPMed,gnomAD
rs764978192	p.Met942Val	missense variant	-	NC_000001.11:g.236886340A>G	ExAC,gnomAD
rs773509459	p.Met942Ile	missense variant	-	NC_000001.11:g.236886342G>A	ExAC,TOPMed,gnomAD
COSM3418934	p.Trp944Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236886346T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp944Ter	stop gained	-	NC_000001.11:g.236886348G>A	NCI-TCGA
rs1440254433	p.Leu945Pro	missense variant	-	NC_000001.11:g.236886350T>C	TOPMed,gnomAD
rs1440254433	p.Leu945Arg	missense variant	-	NC_000001.11:g.236886350T>G	TOPMed,gnomAD
COSM6062060	p.Glu947Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236886356A>C	NCI-TCGA Cosmic
rs763138510	p.Glu947Lys	missense variant	-	NC_000001.11:g.236886355G>A	ExAC,TOPMed,gnomAD
rs763138510	p.Glu947Gln	missense variant	-	NC_000001.11:g.236886355G>C	ExAC,TOPMed,gnomAD
rs550823647	p.Lys952Arg	missense variant	-	NC_000001.11:g.236889184A>G	1000Genomes,ExAC,gnomAD
COSM6062059	p.Pro953Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236889187C>T	NCI-TCGA Cosmic
rs1012977522	p.Pro953Ser	missense variant	-	NC_000001.11:g.236889186C>T	TOPMed
rs369001514	p.Thr954Pro	missense variant	-	NC_000001.11:g.236889189A>C	ESP,ExAC
rs146931200	p.Thr954Met	missense variant	-	NC_000001.11:g.236889190C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe955Leu	missense variant	-	NC_000001.11:g.236889192T>C	NCI-TCGA
rs764628879	p.Ile956Thr	missense variant	-	NC_000001.11:g.236889196T>C	ExAC,TOPMed,gnomAD
rs757585550	p.Gln959His	missense variant	-	NC_000001.11:g.236889206G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln959Glu	missense variant	-	NC_000001.11:g.236889204C>G	NCI-TCGA
rs1219705047	p.Val960Phe	missense variant	-	NC_000001.11:g.236889207G>T	TOPMed
rs779579945	p.Tyr964His	missense variant	-	NC_000001.11:g.236889219T>C	ExAC,TOPMed,gnomAD
rs1416094227	p.Tyr964Cys	missense variant	-	NC_000001.11:g.236889220A>G	TOPMed,gnomAD
rs780732580	p.Gln967Arg	missense variant	-	NC_000001.11:g.236889229A>G	ExAC,gnomAD
rs747630691	p.Lys968Asn	missense variant	-	NC_000001.11:g.236889233G>T	ExAC,gnomAD
COSM3864867	p.Val970Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236889238T>G	NCI-TCGA Cosmic
rs1369853053	p.Asp971Asn	missense variant	-	NC_000001.11:g.236889240G>A	gnomAD
rs773190246	p.Tyr972Cys	missense variant	-	NC_000001.11:g.236889244A>G	ExAC,TOPMed,gnomAD
rs773190246	p.Tyr972Phe	missense variant	-	NC_000001.11:g.236889244A>T	ExAC,TOPMed,gnomAD
rs770689959	p.Trp975Ter	stop gained	-	NC_000001.11:g.236889253G>A	ExAC,gnomAD
rs1376609534	p.Trp975Arg	missense variant	-	NC_000001.11:g.236889252T>C	gnomAD
rs1295830969	p.Trp975Cys	missense variant	-	NC_000001.11:g.236889254G>C	gnomAD
rs1402089177	p.Pro977Ser	missense variant	-	NC_000001.11:g.236889258C>T	TOPMed
rs1273222787	p.Val981Asp	missense variant	-	NC_000001.11:g.236889271T>A	gnomAD
rs1201786899	p.Val981Ile	missense variant	-	NC_000001.11:g.236889270G>A	gnomAD
NCI-TCGA novel	p.Trp982Arg	missense variant	-	NC_000001.11:g.236889273T>A	NCI-TCGA
NCI-TCGA novel	p.Gln983His	missense variant	-	NC_000001.11:g.236889278G>C	NCI-TCGA
rs201015844	p.Arg985Trp	missense variant	-	NC_000001.11:g.236889282C>T	ExAC,TOPMed,gnomAD
rs372611712	p.Arg985Gln	missense variant	-	NC_000001.11:g.236889283G>A	NCI-TCGA,NCI-TCGA Cosmic
rs372611712	p.Arg985Gln	missense variant	-	NC_000001.11:g.236889283G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly986Ser	missense variant	-	NC_000001.11:g.236889285G>A	NCI-TCGA
rs772400119	p.Pro989Arg	missense variant	-	NC_000001.11:g.236889295C>G	ExAC,TOPMed,gnomAD
rs772400119	p.Pro989Leu	missense variant	-	NC_000001.11:g.236889295C>T	ExAC,TOPMed,gnomAD
rs1187400376	p.Asn990Ser	missense variant	-	NC_000001.11:g.236889298A>G	gnomAD
rs754306872	p.Arg991Gln	missense variant	-	NC_000001.11:g.236889301G>A	ExAC,TOPMed,gnomAD
rs536238004	p.Arg991Ter	stop gained	-	NC_000001.11:g.236889300C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs536238004	p.Arg991Gly	missense variant	-	NC_000001.11:g.236889300C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000778973	p.Arg991Ter	nonsense	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236889300C>T	ClinVar
rs1355193173	p.Pro994Leu	missense variant	-	NC_000001.11:g.236889310C>T	gnomAD
NCI-TCGA novel	p.Pro994Arg	missense variant	-	NC_000001.11:g.236889310C>G	NCI-TCGA
rs1240266731	p.Lys995Thr	missense variant	-	NC_000001.11:g.236889313A>C	TOPMed
rs143338646	p.Lys995Glu	missense variant	-	NC_000001.11:g.236889312A>G	ESP,ExAC,TOPMed,gnomAD
rs750765808	p.Asn998Ser	missense variant	-	NC_000001.11:g.236889322A>G	ExAC,gnomAD
rs780820342	p.Asp999His	missense variant	-	NC_000001.11:g.236889324G>C	ExAC,TOPMed,gnomAD
rs780820342	p.Asp999Asn	missense variant	-	NC_000001.11:g.236889324G>A	ExAC,TOPMed,gnomAD
rs752265784	p.Lys1000Gln	missense variant	-	NC_000001.11:g.236889327A>C	ExAC,gnomAD
rs752265784	p.Lys1000Glu	missense variant	-	NC_000001.11:g.236889327A>G	ExAC,gnomAD
rs755595867	p.Lys1000Arg	missense variant	-	NC_000001.11:g.236889328A>G	ExAC,TOPMed,gnomAD
rs1225680823	p.Thr1001Ser	missense variant	-	NC_000001.11:g.236889330A>T	gnomAD
NCI-TCGA novel	p.Glu1005Ter	stop gained	-	NC_000001.11:g.236891138G>T	NCI-TCGA
rs1006066689	p.Arg1007Met	missense variant	-	NC_000001.11:g.236891145G>T	gnomAD
rs755829489	p.Lys1008Asn	missense variant	-	NC_000001.11:g.236891149G>C	ExAC,TOPMed,gnomAD
rs755606958	p.Val1009Ile	missense variant	-	NC_000001.11:g.236891150G>A	ExAC,TOPMed,gnomAD
rs755606958	p.Val1009Phe	missense variant	-	NC_000001.11:g.236891150G>T	ExAC,TOPMed,gnomAD
COSM1340400	p.Tyr1010His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236891153T>C	NCI-TCGA Cosmic
rs753262198	p.Asp1011Asn	missense variant	-	NC_000001.11:g.236891156G>A	ExAC,TOPMed,gnomAD
rs753262198	p.Asp1011Tyr	missense variant	-	NC_000001.11:g.236891156G>T	ExAC,TOPMed,gnomAD
rs201901663	p.Asp1012Val	missense variant	-	NC_000001.11:g.236891160A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1177658009	p.Asp1012Glu	missense variant	-	NC_000001.11:g.236891161T>A	gnomAD
RCV000398006	p.Asp1012Val	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236891160A>T	ClinVar
rs1474412109	p.Ala1013Thr	missense variant	-	NC_000001.11:g.236891162G>A	TOPMed
rs745715524	p.Asn1015Ser	missense variant	-	NC_000001.11:g.236891169A>G	ExAC,gnomAD
rs1158020013	p.Asn1018Lys	missense variant	-	NC_000001.11:g.236891179C>A	gnomAD
NCI-TCGA novel	p.Ile1021Asn	missense variant	-	NC_000001.11:g.236891187T>A	NCI-TCGA
rs758208273	p.Ser1022Asn	missense variant	-	NC_000001.11:g.236891190G>A	ExAC,gnomAD
rs1321050406	p.Leu1026Phe	missense variant	-	NC_000001.11:g.236891201C>T	gnomAD
rs116836001	p.Arg1027Gly	missense variant	-	NC_000001.11:g.236891204C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116836001	p.Arg1027Trp	missense variant	-	NC_000001.11:g.236891204C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000186039	p.Arg1027Trp	missense variant	-	NC_000001.11:g.236891204C>T	ClinVar
RCV000314594	p.Arg1027Trp	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236891204C>T	ClinVar
NCI-TCGA novel	p.Arg1027Gln	missense variant	-	NC_000001.11:g.236891205G>A	NCI-TCGA
RCV000766292	p.Arg1027Trp	missense variant	-	NC_000001.11:g.236891204C>T	ClinVar
rs768739478	p.Arg1029Gln	missense variant	-	NC_000001.11:g.236891211G>A	ExAC,TOPMed,gnomAD
rs768739478	p.Arg1029Leu	missense variant	-	NC_000001.11:g.236891211G>T	ExAC,TOPMed,gnomAD
rs139771804	p.Arg1029Trp	missense variant	-	NC_000001.11:g.236891210C>T	ESP,ExAC,TOPMed,gnomAD
rs1228133073	p.Gly1030Ala	missense variant	-	NC_000001.11:g.236891214G>C	gnomAD
rs748175083	p.Val1032Ile	missense variant	-	NC_000001.11:g.236891219G>A	ExAC,gnomAD
rs773655262	p.Gln1038Arg	missense variant	-	NC_000001.11:g.236891238A>G	ExAC,gnomAD
rs995631464	p.Gln1038His	missense variant	-	NC_000001.11:g.236891239G>C	TOPMed
rs1214329587	p.Ser1039Arg	missense variant	-	NC_000001.11:g.236891240A>C	TOPMed
rs1205215968	p.Ser1039Ile	missense variant	-	NC_000001.11:g.236891241G>T	gnomAD
rs763315904	p.Ile1040Val	missense variant	-	NC_000001.11:g.236891243A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1041Arg	missense variant	-	NC_000001.11:g.236891247A>G	NCI-TCGA
rs529430607	p.Asp1042Glu	missense variant	-	NC_000001.11:g.236891251C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1227536905	p.Asp1043Asn	missense variant	-	NC_000001.11:g.236891252G>A	TOPMed
rs775141970	p.His1045Tyr	missense variant	-	NC_000001.11:g.236891258C>T	ExAC,gnomAD
rs374527196	p.Leu1046Gln	missense variant	-	NC_000001.11:g.236891262T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1046Met	missense variant	-	NC_000001.11:g.236891261C>A	NCI-TCGA
rs1064796193	p.Ala1048Thr	missense variant	-	NC_000001.11:g.236891267_236891269delinsACG	-
rs756706737	p.Ala1048Thr	missense variant	-	NC_000001.11:g.236891267G>A	ExAC,TOPMed,gnomAD
RCV000481667	p.Ala1048Thr	missense variant	-	NC_000001.11:g.236891267_236891269delinsACG	ClinVar
rs765278297	p.Ala1048Val	missense variant	-	NC_000001.11:g.236891268C>T	ExAC,TOPMed,gnomAD
COSM4029877	p.Ala1050Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236891273G>A	NCI-TCGA Cosmic
rs948258504	p.Pro1053Leu	missense variant	-	NC_000001.11:g.236891283C>T	TOPMed,gnomAD
rs980997415	p.Ala1055Thr	missense variant	-	NC_000001.11:g.236891288G>A	TOPMed
rs758291602	p.Ala1056Ser	missense variant	-	NC_000001.11:g.236891291G>T	ExAC,gnomAD
rs1242958824	p.Glu1057Ter	stop gained	-	NC_000001.11:g.236891294G>T	gnomAD
rs780045701	p.Pro1058Ser	missense variant	-	NC_000001.11:g.236891297C>T	ExAC,TOPMed,gnomAD
rs755297063	p.Ile1059Met	missense variant	-	NC_000001.11:g.236891302A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile1059Val	missense variant	-	NC_000001.11:g.236891300A>G	NCI-TCGA
rs781259445	p.Thr1061Ala	missense variant	-	NC_000001.11:g.236891306A>G	ExAC,gnomAD
rs1207523265	p.Thr1061Ile	missense variant	-	NC_000001.11:g.236891307C>T	gnomAD
rs748276490	p.Phe1062Leu	missense variant	-	NC_000001.11:g.236891309T>C	ExAC,gnomAD
rs769801712	p.Tyr1063Cys	missense variant	-	NC_000001.11:g.236891313A>G	ExAC,TOPMed,gnomAD
rs1204348273	p.Arg1066Lys	missense variant	-	NC_000001.11:g.236891322G>A	TOPMed
rs749742679	p.Gln1068Ter	stop gained	-	NC_000001.11:g.236891327C>T	ExAC,TOPMed,gnomAD
rs749742679	p.Gln1068Glu	missense variant	-	NC_000001.11:g.236891327C>G	ExAC,TOPMed,gnomAD
rs1318765706	p.Glu1070Lys	missense variant	-	NC_000001.11:g.236894360G>A	gnomAD
COSM3485668	p.Glu1070Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894360G>C	NCI-TCGA Cosmic
rs1314165351	p.Asp1072Glu	missense variant	-	NC_000001.11:g.236894368C>G	TOPMed
NCI-TCGA novel	p.Asp1072Asn	missense variant	-	NC_000001.11:g.236894366G>A	NCI-TCGA
rs111465715	p.Ser1073Pro	missense variant	-	NC_000001.11:g.236894369T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1073Cys	missense variant	-	NC_000001.11:g.236894370C>G	NCI-TCGA
NCI-TCGA novel	p.Ser1075Gly	missense variant	-	NC_000001.11:g.236894375A>G	NCI-TCGA
rs144991102	p.Thr1076Met	missense variant	-	NC_000001.11:g.236894379C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776369067	p.Thr1076Ala	missense variant	-	NC_000001.11:g.236894378A>G	ExAC,gnomAD
rs769542845	p.Tyr1079Ser	missense variant	-	NC_000001.11:g.236894388A>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1079Phe	missense variant	-	NC_000001.11:g.236894388A>T	NCI-TCGA
COSM906104	p.Cys1081Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894394G>A	NCI-TCGA Cosmic
rs772925364	p.Leu1082Phe	missense variant	-	NC_000001.11:g.236894396C>T	ExAC,gnomAD
COSM350005	p.Ser1083Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236894400C>G	NCI-TCGA Cosmic
rs766355068	p.Phe1085Leu	missense variant	-	NC_000001.11:g.236894407C>A	ExAC,gnomAD
rs1464089886	p.Phe1085Val	missense variant	-	NC_000001.11:g.236894405T>G	gnomAD
rs368521476	p.Ala1087Val	missense variant	-	NC_000001.11:g.236894412C>T	ESP,ExAC,TOPMed,gnomAD
rs1431954928	p.Ala1087Thr	missense variant	-	NC_000001.11:g.236894411G>A	gnomAD
rs1459148876	p.Pro1088Ser	missense variant	-	NC_000001.11:g.236894414C>T	gnomAD
rs202230081	p.His1090Arg	missense variant	-	NC_000001.11:g.236894421A>G	ExAC,TOPMed,gnomAD
rs200363767	p.Arg1094Cys	missense variant	-	NC_000001.11:g.236894432C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764803333	p.Arg1094His	missense variant	-	NC_000001.11:g.236894433G>A	ExAC,TOPMed,gnomAD
COSM4029878	p.Asp1095Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894435G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr1096His	missense variant	-	NC_000001.11:g.236894438T>C	NCI-TCGA
rs1300499137	p.Ala1101Ser	missense variant	-	NC_000001.11:g.236894453G>T	gnomAD
rs757267455	p.Val1102Ile	missense variant	-	NC_000001.11:g.236894456G>A	ExAC,TOPMed,gnomAD
rs746319355	p.Ala1103Val	missense variant	-	NC_000001.11:g.236894460C>T	ExAC,gnomAD
COSM906108	p.Phe1105Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894465T>C	NCI-TCGA Cosmic
COSM1340401	p.Gly1106TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236894464_236894465insT	NCI-TCGA Cosmic
rs772610612	p.Glu1108Gly	missense variant	-	NC_000001.11:g.236894475A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1112Gln	missense variant	-	NC_000001.11:g.236894486A>C	NCI-TCGA
rs146071220	p.Ala1113Thr	missense variant	-	NC_000001.11:g.236894489G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000274727	p.Ala1113Thr	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236894489G>A	ClinVar
rs769629619	p.Tyr1114Cys	missense variant	-	NC_000001.11:g.236894493A>G	ExAC,TOPMed,gnomAD
rs769629619	p.Tyr1114Ser	missense variant	-	NC_000001.11:g.236894493A>C	ExAC,TOPMed,gnomAD
rs772943921	p.Glu1115Asp	missense variant	-	NC_000001.11:g.236894497G>T	ExAC,gnomAD
rs1180496181	p.Asp1116Asn	missense variant	-	NC_000001.11:g.236894498G>A	gnomAD
rs1167108696	p.Asp1120Asn	missense variant	-	NC_000001.11:g.236894510G>A	gnomAD
rs1459810939	p.Ser1122Asn	missense variant	-	NC_000001.11:g.236894517G>A	TOPMed
rs1419866583	p.Ser1123Ile	missense variant	-	NC_000001.11:g.236894520G>T	TOPMed
NCI-TCGA novel	p.Met1125Ile	missense variant	-	NC_000001.11:g.236894527G>A	NCI-TCGA
rs774372450	p.Val1126Ile	missense variant	-	NC_000001.11:g.236894528G>A	ExAC,gnomAD
rs759436870	p.Ala1128Val	missense variant	-	NC_000001.11:g.236894535C>T	ExAC,TOPMed,gnomAD
RCV000015354	p.Ala1128Ter	frameshift	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236894532dup	ClinVar
rs1251129790	p.Leu1129Pro	missense variant	-	NC_000001.11:g.236894538T>C	TOPMed
COSM6062057	p.Arg1132Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894547G>T	NCI-TCGA Cosmic
rs201991154	p.Arg1132Trp	missense variant	-	NC_000001.11:g.236894546C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1305962485	p.Arg1132Gln	missense variant	-	NC_000001.11:g.236894547G>A	gnomAD
rs1349592461	p.Leu1133Pro	missense variant	-	NC_000001.11:g.236894550T>C	gnomAD
rs183827423	p.Ala1136Pro	missense variant	-	NC_000001.11:g.236895358G>C	1000Genomes,gnomAD
rs767000295	p.Ala1138Thr	missense variant	-	NC_000001.11:g.236895364G>A	ExAC,gnomAD
rs150123193	p.Glu1140Lys	missense variant	-	NC_000001.11:g.236895370G>A	ESP,ExAC,gnomAD
rs755419209	p.His1142Arg	missense variant	-	NC_000001.11:g.236895377A>G	ExAC,gnomAD
rs1389451053	p.His1142Tyr	missense variant	-	NC_000001.11:g.236895376C>T	gnomAD
rs571114008	p.Arg1144Thr	missense variant	-	NC_000001.11:g.236895383G>C	1000Genomes,gnomAD
rs781725496	p.Arg1144Gly	missense variant	-	NC_000001.11:g.236895382A>G	ExAC,TOPMed,gnomAD
rs748488313	p.Arg1146His	missense variant	-	NC_000001.11:g.236895389G>A	ExAC,gnomAD
rs1465246067	p.Arg1146Cys	missense variant	-	NC_000001.11:g.236895388C>T	gnomAD
NCI-TCGA novel	p.Arg1146Ser	missense variant	-	NC_000001.11:g.236895388C>A	NCI-TCGA
rs201718371	p.Arg1147Ter	stop gained	-	NC_000001.11:g.236895391C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1432236758	p.Arg1147Gln	missense variant	-	NC_000001.11:g.236895392G>A	gnomAD
rs778610968	p.Glu1148Gln	missense variant	-	NC_000001.11:g.236895394G>C	ExAC,TOPMed,gnomAD
rs1368957034	p.Glu1148Val	missense variant	-	NC_000001.11:g.236895395A>T	TOPMed,gnomAD
rs1311964329	p.Trp1150Cys	missense variant	-	NC_000001.11:g.236895402G>C	gnomAD
rs1209675301	p.Ala1151Ser	missense variant	-	NC_000001.11:g.236895403G>T	gnomAD
NCI-TCGA novel	p.Ala1151Thr	missense variant	-	NC_000001.11:g.236895403G>A	NCI-TCGA
rs771542050	p.Tyr1152Cys	missense variant	-	NC_000001.11:g.236895407A>G	ExAC,TOPMed,gnomAD
rs1408766569	p.Cys1153Arg	missense variant	-	NC_000001.11:g.236895409T>C	TOPMed,gnomAD
rs1463635806	p.Cys1153Tyr	missense variant	-	NC_000001.11:g.236895410G>A	gnomAD
rs1188027807	p.Gly1154Ser	missense variant	-	NC_000001.11:g.236895412G>A	gnomAD
rs1478316739	p.Ser1155Asn	missense variant	-	NC_000001.11:g.236895416G>A	gnomAD
rs369154176	p.Ser1155Gly	missense variant	-	NC_000001.11:g.236895415A>G	ESP,ExAC,TOPMed,gnomAD
rs1159496738	p.Val1160Ile	missense variant	-	NC_000001.11:g.236895430G>A	TOPMed,gnomAD
rs866499126	p.Ala1161Thr	missense variant	-	NC_000001.11:g.236895433G>A	gnomAD
rs61736326	p.Arg1164Leu	missense variant	-	NC_000001.11:g.236895443G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61736326	p.Arg1164His	missense variant	-	NC_000001.11:g.236895443G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761657622	p.Arg1164Cys	missense variant	-	NC_000001.11:g.236895442C>T	ExAC,TOPMed,gnomAD
RCV000259444	p.Arg1164His	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236895443G>A	ClinVar
rs12030699	p.Leu1166Val	missense variant	-	NC_000001.11:g.236895448C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12030699	p.Leu1166Met	missense variant	-	NC_000001.11:g.236895448C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs556429682	p.Arg1167Gln	missense variant	-	NC_000001.11:g.236895452G>A	ExAC,TOPMed,gnomAD
rs751671789	p.Arg1167Trp	missense variant	-	NC_000001.11:g.236895451C>T	ExAC,TOPMed,gnomAD
RCV000286629	p.Arg1167Gln	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236895452G>A	ClinVar
rs753057689	p.Ile1171Val	missense variant	-	NC_000001.11:g.236895463A>G	ExAC,gnomAD
rs756440911	p.Arg1172Cys	missense variant	-	NC_000001.11:g.236895466C>T	ExAC,gnomAD
rs778432496	p.Arg1172Pro	missense variant	-	NC_000001.11:g.236895467G>C	ExAC,TOPMed,gnomAD
rs778432496	p.Arg1172His	missense variant	-	NC_000001.11:g.236895467G>A	ExAC,TOPMed,gnomAD
rs121913578	p.Pro1173Leu	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236895470C>T	UniProt,dbSNP
VAR_004331	p.Pro1173Leu	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236895470C>T	UniProt
rs121913578	p.Pro1173Leu	missense variant	-	NC_000001.11:g.236895470C>T	ESP,ExAC,TOPMed,gnomAD
RCV000162189	p.Pro1173Leu	missense variant	-	NC_000001.11:g.236895470C>T	ClinVar
rs1480041419	p.Ala1174Thr	missense variant	-	NC_000001.11:g.236895472G>A	gnomAD
NCI-TCGA novel	p.Ala1174Ser	missense variant	-	NC_000001.11:g.236895472G>T	NCI-TCGA
rs1182672054	p.Pro1175Ala	missense variant	-	NC_000001.11:g.236895475C>G	gnomAD
rs1182672054	p.Pro1175Ser	missense variant	-	NC_000001.11:g.236895475C>T	gnomAD
rs1467474078	p.Pro1178Ser	missense variant	-	NC_000001.11:g.236895484C>T	TOPMed
rs779588628	p.Pro1178Arg	missense variant	-	NC_000001.11:g.236895485C>G	ExAC
rs781051354	p.Asp1182Asn	missense variant	-	NC_000001.11:g.236895496G>A	ExAC,gnomAD
rs1410930022	p.Glu1185Lys	missense variant	-	NC_000001.11:g.236895505G>A	gnomAD
rs769594981	p.Lys1186Arg	missense variant	-	NC_000001.11:g.236895509A>G	ExAC,gnomAD
rs773331349	p.Thr1188Ala	missense variant	-	NC_000001.11:g.236895514A>G	ExAC,gnomAD
rs1284998184	p.Met1189Thr	missense variant	-	NC_000001.11:g.236895518T>C	gnomAD
rs763288919	p.Arg1191Ter	stop gained	-	NC_000001.11:g.236895523A>T	ExAC,TOPMed,gnomAD
rs763288919	p.Arg1191Gly	missense variant	-	NC_000001.11:g.236895523A>G	ExAC,TOPMed,gnomAD
rs1226657558	p.Leu1192Ile	missense variant	-	NC_000001.11:g.236895526C>A	gnomAD
rs759671198	p.Ala1193Ser	missense variant	-	NC_000001.11:g.236895529G>T	ExAC,TOPMed,gnomAD
rs1205715453	p.Ala1193Val	missense variant	-	NC_000001.11:g.236895530C>T	gnomAD
rs759671198	p.Ala1193Thr	missense variant	-	NC_000001.11:g.236895529G>A	ExAC,TOPMed,gnomAD
rs149476106	p.Ile1195Val	missense variant	-	NC_000001.11:g.236895535A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000606296	p.Ile1195Val	missense variant	-	NC_000001.11:g.236895535A>G	ClinVar
rs1180692014	p.Glu1196Lys	missense variant	-	NC_000001.11:g.236895538G>A	gnomAD
rs1473549747	p.Gln1197Ter	stop gained	-	NC_000001.11:g.236895541C>T	gnomAD
rs1049945606	p.Ser1198Cys	missense variant	-	NC_000001.11:g.236895545C>G	TOPMed,gnomAD
rs1425355700	p.Gly1200Ala	missense variant	-	NC_000001.11:g.236897006G>C	TOPMed
rs1430971744	p.Gly1200Ser	missense variant	-	NC_000001.11:g.236895550G>A	gnomAD
RCV000732987	p.Ile1201Ter	frameshift	-	NC_000001.11:g.236897007del	ClinVar
rs957035403	p.Arg1202Ser	missense variant	-	NC_000001.11:g.236897013G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1203Ile	missense variant	-	NC_000001.11:g.236897014T>A	NCI-TCGA
rs1210078406	p.Glu1205Gly	missense variant	-	NC_000001.11:g.236897021A>G	gnomAD
rs121913581	p.Glu1205Ter	stop gained	-	NC_000001.11:g.236897020G>T	-
RCV000015357	p.Glu1205Ter	nonsense	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236897020G>T	ClinVar
rs751171043	p.Ser1206Ter	stop gained	-	NC_000001.11:g.236897024C>G	ExAC,gnomAD
rs1357538863	p.Ala1208Thr	missense variant	-	NC_000001.11:g.236897029G>A	gnomAD
rs754503015	p.Met1209Val	missense variant	-	NC_000001.11:g.236897032A>G	ExAC,TOPMed,gnomAD
rs1256302185	p.Ala1214Val	missense variant	-	NC_000001.11:g.236897048C>T	TOPMed
COSM1296050	p.Ser1216Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236897054C>G	NCI-TCGA Cosmic
rs1176037522	p.Gly1217Val	missense variant	-	NC_000001.11:g.236897057G>T	gnomAD
NCI-TCGA novel	p.Phe1220Leu	missense variant	-	NC_000001.11:g.236897067C>G	NCI-TCGA
rs938346817	p.Ser1221Phe	missense variant	-	NC_000001.11:g.236897069C>T	TOPMed,gnomAD
rs938346817	p.Ser1221Cys	missense variant	-	NC_000001.11:g.236897069C>G	TOPMed,gnomAD
RCV000642170	p.Asn1222Ser	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236897072A>G	ClinVar
rs61739582	p.Asn1222Ser	missense variant	-	NC_000001.11:g.236897072A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1318631598	p.Ser1225Cys	missense variant	-	NC_000001.11:g.236897081C>G	gnomAD
rs777562650	p.Lys1226Ile	missense variant	-	NC_000001.11:g.236897084A>T	ExAC,TOPMed,gnomAD
rs777562650	p.Lys1226Arg	missense variant	-	NC_000001.11:g.236897084A>G	ExAC,TOPMed,gnomAD
rs777562650	p.Lys1226Thr	missense variant	-	NC_000001.11:g.236897084A>C	ExAC,TOPMed,gnomAD
rs749112677	p.Tyr1227Phe	missense variant	-	NC_000001.11:g.236897087A>T	ExAC,gnomAD
rs1332842675	p.Phe1228Ser	missense variant	-	NC_000001.11:g.236897090T>C	TOPMed
rs138451899	p.Val1230Leu	missense variant	-	NC_000001.11:g.236897095G>C	ESP,ExAC,gnomAD
rs1487152848	p.Lys1232Asn	missense variant	-	NC_000001.11:g.236897103G>C	gnomAD
rs779312137	p.Lys1235Arg	missense variant	-	NC_000001.11:g.236897111A>G	ExAC,gnomAD
COSM4029879	p.Asp1236His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236897113G>C	NCI-TCGA Cosmic
rs370707501	p.Val1238Ile	missense variant	-	NC_000001.11:g.236897558G>A	ESP,TOPMed
rs1002386536	p.Glu1239Gln	missense variant	-	NC_000001.11:g.236897561G>C	TOPMed,gnomAD
rs1002386536	p.Glu1239Lys	missense variant	-	NC_000001.11:g.236897561G>A	TOPMed,gnomAD
rs1380454043	p.Tyr1241His	missense variant	-	NC_000001.11:g.236897567T>C	TOPMed
rs150280831	p.Asn1246Ser	missense variant	-	NC_000001.11:g.236897583A>G	ESP,ExAC,TOPMed
rs778901727	p.Ile1247Val	missense variant	-	NC_000001.11:g.236897585A>G	ExAC,TOPMed,gnomAD
rs745627967	p.Ser1248Pro	missense variant	-	NC_000001.11:g.236897588T>C	ExAC,gnomAD
rs1180345525	p.Ala1250Thr	missense variant	-	NC_000001.11:g.236897594G>A	TOPMed,gnomAD
rs1387815304	p.Glu1251Gly	missense variant	-	NC_000001.11:g.236897598A>G	gnomAD
COSM679979	p.Glu1253Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236897605G>T	NCI-TCGA Cosmic
COSM679977	p.Lys1254Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236897606A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1255Ter	stop gained	-	NC_000001.11:g.236897610G>A	NCI-TCGA
rs374409316	p.Gly1257Val	missense variant	-	NC_000001.11:g.236897616G>T	ESP,ExAC,TOPMed,gnomAD
rs747115857	p.Gly1257Ter	stop gained	-	NC_000001.11:g.236897615G>T	ExAC,gnomAD
rs747115857	p.Gly1257Arg	missense variant	-	NC_000001.11:g.236897615G>A	ExAC,gnomAD
rs11799647	p.Ile1259Val	missense variant	-	NC_000001.11:g.236897621A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1265Val	missense variant	-	NC_000001.11:g.236897640A>T	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	LHGDN
C0001969	Alcoholic Intoxication	disease	PSYGENET
C0002395	Alzheimer's Disease	disease	BEFREE
C0002888	Anemia, Megaloblastic	disease	BEFREE;HPO
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004238	Atrial Fibrillation	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0004509	Azoospermia	disease	BEFREE
C0004763	Barrett Esophagus	disease	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE;LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0007766	Intracranial Aneurysm	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	CTD_human;LHGDN
C0008925	Cleft Palate	disease	CTD_human;LHGDN
C0009324	Ulcerative Colitis	disease	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE;LHGDN
C0010346	Crohn Disease	disease	BEFREE
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0011570	Mental Depression	disease	BEFREE;PSYGENET
C0011581	Depressive disorder	disease	BEFREE;PSYGENET
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	RGD
C0013080	Down Syndrome	disease	BEFREE;LHGDN
C0013221	Drug toxicity	group	CTD_human
C0013336	Dwarfism	disease	BEFREE
C0014544	Epilepsy	disease	BEFREE;HPO
C0014859	Esophageal Neoplasms	group	BEFREE
C0016412	Folic Acid Deficiency	disease	BEFREE
C0017178	Gastrointestinal Diseases	group	CTD_human
C0017636	Glioblastoma	disease	BEFREE;LHGDN
C0017661	IGA Glomerulonephritis	disease	BEFREE
C0018671	Head and Neck Neoplasms	group	LHGDN
C0018798	Congenital Heart Defects	group	LHGDN
C0018939	Hematological Disease	group	CTD_human
C0019880	Homocystinuria	disease	BEFREE;HPO
C0020538	Hypertensive disease	group	BEFREE
C0020796	Profound Mental Retardation	disease	CLINVAR
C0021294	Infant, Premature	phenotype	BEFREE
C0021364	Male infertility	disease	BEFREE;CTD_human
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023530	Leukopenia	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	LHGDN
C0024299	Lymphoma	group	BEFREE;CTD_human
C0024301	Lymphoma, Follicular	disease	BEFREE;CTD_human
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025281	Meniere Disease	disease	BEFREE
C0025286	Meningioma	disease	LHGDN
C0025362	Mental Retardation	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE
C0027765	nervous system disorder	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE;LHGDN
C0027947	Neutropenia	disease	BEFREE
C0028960	Oligospermia	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030567	Parkinson Disease	disease	BEFREE
C0034065	Pulmonary Embolism	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0035450	Rheumatoid Nodule	phenotype	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036572	Seizures	phenotype	HPO
C0038454	Cerebrovascular accident	group	BEFREE
C0041755	Adverse reaction to drug	group	CTD_human
C0042373	Vascular Diseases	group	BEFREE;LHGDN
C0042847	Vitamin B 12 Deficiency	disease	BEFREE;RGD
C0079731	B-Cell Lymphomas	group	BEFREE
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0079745	Lymphoma, Large-Cell, Follicular	disease	CTD_human
C0079758	Lymphoma, Mixed-Cell, Follicular	disease	CTD_human
C0079765	Lymphoma, Small Cleaved-Cell, Follicular	disease	CTD_human
C0080178	Spina Bifida	disease	BEFREE;LHGDN
C0085580	Essential Hypertension	disease	BEFREE
C0149871	Deep Vein Thrombosis	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0154671	Degenerative brain disorder	group	HPO
C0154723	Migraine with Aura	disease	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0162429	Malnutrition	disease	CTD_human
C0162534	Prion Diseases	group	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0220994	Hyperammonemia	phenotype	GENOMICS_ENGLAND
C0231246	Failure to gain weight	phenotype	HPO
C0235946	Cerebral atrophy	disease	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0268583	Methylmalonic acidemia	phenotype	BEFREE
C0270612	Leukoencephalopathies	group	CTD_human
C0278704	Malignant Childhood Neoplasm	group	BEFREE
C0278877	adult meningioma	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0279680	Transitional cell carcinoma of bladder	disease	BEFREE
C0280803	Primary central nervous system lymphoma	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0342704	Deficiency of Cobalamin G	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349459	Cervical intraepithelial neoplasia grade 2	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0559031	Functional Gastrointestinal Disorders	disease	CTD_human
C0563243	Poor coordination	phenotype	HPO
C0575081	Gait abnormality	group	HPO
C0588008	Severe depression	disease	BEFREE;PSYGENET
C0596263	Carcinogenesis	phenotype	BEFREE
C0598608	Hyperhomocysteinemia	disease	BEFREE;LHGDN
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0750974	Brain Tumor, Primary	disease	BEFREE
C0751075	Cancer of Digestive System	group	BEFREE
C0751606	Adult Acute Lymphocytic Leukemia	disease	BEFREE
C0848676	Subfertility, Male	phenotype	CTD_human
C0852949	Arteriopathic disease	group	BEFREE
C0917731	Male sterility	phenotype	CTD_human
C0917816	Mental deficiency	disease	HPO
C0948008	Ischemic stroke	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1298680	Occlusive stroke	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306856	Megaloblastic anemia due to inborn errors of metabolism	disease	BEFREE
C1332977	Childhood Leukemia	disease	BEFREE
C1389018	Atrioventricular Septal Defect	disease	BEFREE
C1394891	Intrinsic Factor Deficiency	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1565321	Cholera Infantum	disease	CTD_human
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1827820	Fast acetylator due to N-acetyltransferase enzyme variant	disease	BEFREE
C1837218	Cleft palate, isolated	disease	CTD_human
C1843367	Poor school performance	phenotype	HPO
C1848555	Hypomethioninemia	phenotype	HPO
C1848580	Decreased methionine synthase activity	phenotype	HPO
C1855119	Methylmalonic aciduria	disease	BEFREE
C1855128	Methylcobalamin Deficiency, CblG Type	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1858120	Generalized hypotonia	phenotype	HPO
C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	disease	CTD_human
C1861305	TARSAL-CARPAL COALITION SYNDROME	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C1866558	Neural tube defect, folate-sensitive	disease	CTD_human
C1956130	Lymphoma, Follicular, Grade 1	disease	CTD_human
C1956131	Lymphoma, Follicular, Grade 3	disease	CTD_human
C1956132	Lymphoma, Follicular, Grade 2	disease	CTD_human
C1956346	Coronary Artery Disease	disease	BEFREE
C1959584	Cardiac Carcinoma	disease	BEFREE
C2145472	Urothelial Carcinoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2242817	Homocysteine measurement	phenotype	GWASCAT;GWASDB
C2315100	Pediatric failure to thrive	disease	HPO
C2316810	Chronic kidney disease stage 5	disease	BEFREE
C2674608	Feeding difficulties in infancy	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806347	Hyperhomocystinemia	phenotype	HPO
C4020860	Supratentorial atrophy	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021736	Decreased methylcobalamin	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4275242	Sudden sensorineural hearing loss	disease	BEFREE
C4302111	Familial M?ni?re disease	disease	GENOMICS_ENGLAND
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0008705	methionine synthase activity	IDA
GO:0008705	methionine synthase activity	IBA
GO:0008705	methionine synthase activity	IMP
GO:0031419	cobalamin binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000096	sulfur amino acid metabolic process	TAS
GO:0007399	nervous system development	TAS
GO:0009086	methionine biosynthetic process	IMP
GO:0009235	cobalamin metabolic process	IMP
GO:0009235	cobalamin metabolic process	TAS
GO:0031103	axon regeneration	ISS
GO:0032259	methylation	TAS
GO:0042558	pteridine-containing compound metabolic process	IEA
GO:0048678	response to axon injury	ISS
GO:0071732	cellular response to nitric oxide	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	IDA
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-156580	Phase II - Conjugation of compounds	TAS
R-HSA-156581	Methylation	TAS
R-HSA-1614635	Sulfur amino acid metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-196741	Cobalamin (Cbl, vitamin B12) transport and metabolism	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-3296469	Defects in cobalamin (B12) metabolism	TAS
R-HSA-3296482	Defects in vitamin and cofactor metabolism	TAS
R-HSA-3359467	Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE	TAS
R-HSA-3359469	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	TAS
R-HSA-5668914	Diseases of metabolism	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Dopamine results in increased activity of MTR protein]	14745455
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MTR mRNA	19114083
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Dopamine results in increased activity of MTR protein]	14745455
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of MTR mRNA	21346803
C030371	5,6,7,8-tetrahydrofolic acid	5,6,7,8-tetrahydrofolic acid inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
C030371	5,6,7,8-tetrahydrofolic acid	[Thymidine co-treated with Hypoxanthine co-treated with 5,6,7,8-tetrahydrofolic acid] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
C005984	5-methyltetrahydrofolate	5-methyltetrahydrofolate binds to MTR protein	17477549
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MTR mRNA	26238291
C496492	abrine	abrine results in decreased expression of MTR mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde results in decreased activity of MTR protein	9590515
D000082	Acetaminophen	Acetaminophen results in decreased expression of MTR mRNA	21420995
D000535	Aluminum	Aluminum inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D000535	Aluminum	Aluminum inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
D000535	Aluminum	Aluminum inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MTR mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of MTR mRNA	30779732
D018501	Antirheumatic Agents	MTR gene polymorphism affects the susceptibility to Antirheumatic Agents	18322994
D018501	Antirheumatic Agents	MTR protein affects the susceptibility to Antirheumatic Agents	18322994
D001151	Arsenic	Arsenic inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D001151	Arsenic	Arsenic inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
D001151	Arsenic	MTR gene SNP affects the susceptibility to Arsenic	28889078
D001151	Arsenic	[MTR gene SNP affects the susceptibility to Arsenic] which affects the abundance of Cacodylic Acid	28889078
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MTR protein	15894607
C044946	benazepril	MTR gene SNP affects the susceptibility to benazepril	20445573
C044946	benazepril	MTR protein polymorphism affects the susceptibility to benazepril	15148588
D001562	Benzimidazoles	Benzimidazoles results in decreased activity of MTR protein	17222188
C015700	benzo-1,2,3-thiadiazole	benzo-1,2,3-thiadiazole analog results in decreased activity of MTR protein	17222188
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MTR mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of MTR gene	25435355
C006780	bisphenol A	bisphenol A affects the expression of MTR mRNA	21786754
D003994	Bucladesine	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MTR mRNA	20823114
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
D019328	Buthionine Sulfoximine	Glutathione inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D019328	Buthionine Sulfoximine	mecobalamin inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
C018475	butyraldehyde	butyraldehyde results in decreased expression of MTR mRNA	26079696
D002101	Cacodylic Acid	[MTR gene SNP affects the susceptibility to Arsenic] which affects the abundance of Cacodylic Acid	28889078
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of MTR mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MTR mRNA	19320972
D003300	Copper	Copper affects the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of MTR mRNA	19549813
D003520	Cyclophosphamide	Cyclophosphamide results in decreased expression of MTR mRNA	27281708
D016572	Cyclosporine	Cyclosporine results in decreased expression of MTR mRNA	25562108
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of MTR mRNA]	27941970
D004041	Dietary Fats	[Streptozocin co-treated with Dietary Fats] results in decreased expression of MTR mRNA	29127188
D004298	Dopamine	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Dopamine results in increased activity of MTR protein]	14745455
D004298	Dopamine	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Dopamine results in increased activity of MTR protein]	14745455
D004298	Dopamine	Dopamine results in increased activity of MTR protein	14745455
D004298	Dopamine	Ethanol promotes the reaction [Dopamine results in increased activity of MTR protein]	14745455
D004298	Dopamine	Wortmannin inhibits the reaction [Dopamine results in increased activity of MTR protein]	14745455
D004317	Doxorubicin	MTR mRNA results in decreased susceptibility to Doxorubicin	16322897
D004726	Endosulfan	Endosulfan results in decreased expression of MTR mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MTR mRNA	20823114
D000431	Ethanol	Ethanol inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
D000431	Ethanol	Ethanol promotes the reaction [Dopamine results in increased activity of MTR protein]	14745455
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MTR mRNA	17606305
D005492	Folic Acid	Folic Acid affects the expression of MTR mRNA	17311948
D005557	Formaldehyde	Formaldehyde results in decreased expression of MTR mRNA	23649840
D005978	Glutathione	Glutathione inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D005978	Glutathione	Glutathione inhibits the reaction [Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D005978	Glutathione	Glutathione promotes the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
C064617	glutathionylcobalamin	[glutathionylcobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form	26989453
D006710	Homocysteine	Homocysteine binds to MTR protein	17477549
D006710	Homocysteine	MTR gene polymorphism affects the metabolism of Homocysteine	20532609
D006710	Homocysteine	MTR protein results in increased methylation of Homocysteine	23665415
D006710	Homocysteine	[MTR protein results in increased methylation of Homocysteine] which results in increased chemical synthesis of Methionine	23665415
D006879	Hydroxocobalamin	Aluminum inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D006879	Hydroxocobalamin	Arsenic inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D006879	Hydroxocobalamin	Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D006879	Hydroxocobalamin	Glutathione inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D006879	Hydroxocobalamin	Glutathione inhibits the reaction [Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D006879	Hydroxocobalamin	Glutathione promotes the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D006879	Hydroxocobalamin	[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form	26989453
D006879	Hydroxocobalamin	Lead inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D006879	Hydroxocobalamin	mecobalamin inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D006879	Hydroxocobalamin	Mercury inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D006879	Hydroxocobalamin	Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D019271	Hypoxanthine	[Thymidine co-treated with Hypoxanthine co-treated with 5,6,7,8-tetrahydrofolic acid] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
D019271	Hypoxanthine	[Thymidine co-treated with Hypoxanthine] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
D007213	Indomethacin	Indomethacin results in decreased expression of MTR mRNA	28201806
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of MTR mRNA	27392435
D007854	Lead	Lead inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D007854	Lead	Lead inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
D007854	Lead	Lead inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
C019476	mecobalamin	Aluminum inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
C019476	mecobalamin	Arsenic inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
C019476	mecobalamin	Buthionine Sulfoximine inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
C019476	mecobalamin	Lead inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
C019476	mecobalamin	mecobalamin inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
C019476	mecobalamin	mecobalamin results in increased activity of MTR protein alternative form	26989453
C019476	mecobalamin	Mercury inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
C019476	mecobalamin	Thimerosal inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
D017258	Medroxyprogesterone Acetate	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MTR mRNA	20823114
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of MTR mRNA	20353558
D008628	Mercury	Mercury inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D008628	Mercury	Mercury inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
D008628	Mercury	Mercury inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
D008715	Methionine	[MTR protein results in increased methylation of Homocysteine] which results in increased chemical synthesis of Methionine	23665415
D008727	Methotrexate	5,6,7,8-tetrahydrofolic acid inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
D008727	Methotrexate	Methotrexate affects the localization of MTR protein	22484375
D008727	Methotrexate	Methotrexate results in decreased expression of MTR protein	16598758
D008727	Methotrexate	MTR gene polymorphism affects the metabolism of Methotrexate	15753437
D008727	Methotrexate	MTR mRNA results in decreased susceptibility to Methotrexate	19426680
D008727	Methotrexate	[Thymidine co-treated with Hypoxanthine co-treated with 5,6,7,8-tetrahydrofolic acid] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
D008727	Methotrexate	[Thymidine co-treated with Hypoxanthine] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MTR mRNA	28001369
C059539	midostaurin	midostaurin results in decreased expression of MTR mRNA	20980353
D009599	Nitroprusside	Nitroprusside results in decreased activity of MTR protein	9108260
D009609	Nitrous Oxide	Nitrous Oxide results in decreased activity of MTR protein	18472229
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of MTR mRNA	26251327
D010396	Penicillamine	Penicillamine inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MTR mRNA	19710929
D011374	Progesterone	Progesterone results in increased expression of MTR mRNA	20864642
D011794	Quercetin	Quercetin results in decreased expression of MTR mRNA	21632981
D012436	S-Adenosylmethionine	Aluminum inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D012436	S-Adenosylmethionine	Arsenic inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D012436	S-Adenosylmethionine	Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D012436	S-Adenosylmethionine	Glutathione inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D012436	S-Adenosylmethionine	Glutathione inhibits the reaction [Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D012436	S-Adenosylmethionine	Glutathione promotes the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D012436	S-Adenosylmethionine	[glutathionylcobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form	26989453
D012436	S-Adenosylmethionine	[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form	26989453
D012436	S-Adenosylmethionine	Lead inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D012436	S-Adenosylmethionine	mecobalamin inhibits the reaction [Buthionine Sulfoximine inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D012436	S-Adenosylmethionine	Mercury inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D012436	S-Adenosylmethionine	S-Adenosylmethionine binds to MTR protein	17477549
D012436	S-Adenosylmethionine	Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
C017947	sodium arsenite	sodium arsenite results in increased expression of MTR mRNA	25697676
D013311	Streptozocin	[Streptozocin co-treated with Dietary Fats] results in decreased expression of MTR mRNA	29127188
D013311	Streptozocin	Streptozocin results in decreased activity of MTR protein	16835399
C016766	sulforafan	[NFE2L2 protein affects the susceptibility to sulforafan] which affects the expression of MTR mRNA	30529165
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of MTR mRNA	27509014
D013849	Thimerosal	Glutathione inhibits the reaction [Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]]	26989453
D013849	Thimerosal	Thimerosal affects the reaction [IGF1 protein results in increased activity of MTR protein]	14745455
D013849	Thimerosal	Thimerosal inhibits the reaction [[Hydroxocobalamin co-treated with S-Adenosylmethionine] results in increased activity of MTR protein alternative form]	26989453
D013849	Thimerosal	Thimerosal inhibits the reaction [mecobalamin results in increased activity of MTR protein alternative form]	26989453
D013849	Thimerosal	Thimerosal results in decreased expression of MTR mRNA	27188386
D013936	Thymidine	[Thymidine co-treated with Hypoxanthine co-treated with 5,6,7,8-tetrahydrofolic acid] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
D013936	Thymidine	[Thymidine co-treated with Hypoxanthine] inhibits the reaction [Methotrexate results in decreased expression of MTR protein]	16598758
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MTR mRNA	28065790
D014227	Triazines	Triazines inhibits the reaction [IDH2 protein mutant form results in decreased expression of MTR mRNA]	27469509
D014241	Trichloroethylene	Trichloroethylene metabolite results in decreased activity of MTR protein	24923549
D014241	Trichloroethylene	Trichloroethylene results in decreased activity of MTR protein	24923549
C012589	trichostatin A	trichostatin A results in increased expression of MTR mRNA	24935251
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of MTR mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of MTR mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of MTR mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of MTR mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of MTR mRNA	24935251
D014805	Vitamin B 12	Vitamin B 12 binds to MTR protein	17477549
D014805	Vitamin B 12	Vitamin B 12 results in increased activity of MTR protein	17982279
D014805	Vitamin B 12	Vitamin B 12 results in increased activity of MTR protein	18472229
D000077191	Wortmannin	Wortmannin inhibits the reaction [Dopamine results in increased activity of MTR protein]	14745455
D000077191	Wortmannin	Wortmannin inhibits the reaction [IGF1 protein results in increased activity of MTR protein]	14745455

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0028	Amino-acid biosynthesis
KW-0846	Cobalamin
KW-0170	Cobalt
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0479	Metal-binding
KW-0486	Methionine biosynthesis
KW-0489	Methyltransferase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0949	S-adenosyl-L-methionine
KW-0808	Transferase
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR003759	Cbl-bd_cap
IPR006158	Cobalamin-bd
IPR036724	Cobalamin-bd_sf
IPR011005	Dihydropteroate_synth-like
IPR003726	HCY_dom
IPR036589	HCY_dom_sf
IPR033706	Met_synthase_B12-bd
IPR011822	MetH
IPR036594	Meth_synthase_dom
IPR000489	Pterin-binding_dom
IPR004223	VitB12-dep_Met_synth_activ_dom
IPR037010	VitB12-dep_Met_synth_activ_sf

PROSITE

PROSITE ID	PROSITE Term
PS50974	ADOMET_ACTIVATION
PS51332	B12_BINDING
PS51337	B12_BINDING_NTER
PS50970	HCY
PS50972	PTERIN_BINDING

Pfam

Pfam ID	Pfam Term
PF02310	B12-binding
PF02607	B12-binding_2
PF02965	Met_synt_B12
PF00809	Pterin_bind
PF02574	S-methyl_trans

Gene: MTR

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction