CleftGeneDB-Search

Gene: MTHFD1L

Basic information

Tag	Content
Uniprot ID	B7ZM99
Entrez ID	25902
Genbank protein ID	AAI44369.1; AAI36686.1;
Genbank nucleotide ID	XM_017010702.1; NM_001242767.1; XM_017010703.1;
Ensembl protein ID	ENSP00000478253
Ensembl nucleotide ID	ENSG00000120254
Gene name	MTHFD1L protein
Gene symbol	MTHFD1L
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MGTRLPLVLR QLRRPPQPPG PPRRLRVPCR ASSGGGGGGG GGREGLLGQR RPQDGQARSS 60 CSPGGRTPAA RDSIVREVIQ NSKEVLSLLQ EKNPAFKPVL AIIQAGDDNL MQEINQNLAE 120 EAGLNITHIC LPPDSSEAEI IDEILKINED TRVHGLALQI SENLFSNKVL NALKPEKDVD 180 GVTDINLGKL VRGDAHECFV SPVAKAVIEL LEKSVGVNLD GKKILVVGAH GSLEAALQCL 240 FQRKGSMTMS IQWKTRQLQS KLHEADIVVL GSPKPEEIPL TWIQPGTTVL NCSHDFLSGK 300 VGCGSPRIHF GGLIEEDDVI LLAAALRIQN MVSSGRRWLR EQQHRRWRLH CLKLQPLSPV 360 PSDIEISRGQ TPKAVDVLAK EIGLLADEIE IYGKSKAKVR LSVLERLKDQ ADGKYVLVAG 420 ITPTPLGEGK STVTIGLVQA LTAHLNVNSF ACLRQPSQGP TFGVKGGAAG GGYAQVIPME 480 EFNLHLTGDI HAITAANNLL AAAIDTRILH ENTQTDKALY NRLVPLVNGV REFSEIQLAR 540 LKKLGINKTD PSTLTEEEVS KFARLDIDPS TITWQRVLDT NDRFLRKITI GQGNTEKGHY 600 RQAQFDIAVA SEIMAVLALT DSLADMKARL GRMVVASDKS GQPVTADDLG VTGALTVLMK 660 DAIKPNLMQT LEGTPVFVHA GPFANIAHGN SSVLADKIAL KLVGEEGFVV TEAGFGADIG 720 MEKFFNIKCR ASGLVPNVVV LVATVRALKM HGGGPSVTAG VPLKKEYTEE NIQLVADGCC 780 NLQKQIQITQ LFGVPVVVAL NVFKTDTRAE IDLVCELAKR AGAFDAVPCY HWSVGGKGSV 840 DLARAVREAA SKRSRFQFLY DVQVPIVDKI RTIAQAVYGA KDIELSPEAQ AKIDRYTQQG 900 FGNLPICMAK THLSLSHQPD KKGVPRDFIL PISDVRASIG AGFIYPLVGT MSTMPGLPTR 960 PCFYDIDLDT ETEQVKGLF 979

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MTHFD1L	102188948	A0A452G6W1		Capra hircus	Prediction	More>>
1:1 ortholog	MTHFD1L	25902	B7ZM99		Homo sapiens	Prediction	More>>
1:1 ortholog	Mthfd1l	270685	Q3V3R1	CPO	Mus musculus	Publication	More>>
1:1 ortholog			H2QTW9		Pan troglodytes	Prediction	More>>
1:1 ortholog	MTHFD1L		F1S7V9		Sus scrofa	Prediction	More>>
1:1 ortholog	Mthfd1l	361472	B2GUZ3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mthfd1l	100034522	F1QQ79		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1230106419	p.Pro6Gln	missense variant	-	NC_000006.12:g.150865839C>A	TOPMed
rs777145083	p.Val8Leu	missense variant	-	NC_000006.12:g.150865844G>C	ExAC,gnomAD
rs1415209119	p.Arg10Ser	missense variant	-	NC_000006.12:g.150865850C>A	TOPMed
rs1347112630	p.Leu12Val	missense variant	-	NC_000006.12:g.150865856C>G	TOPMed,gnomAD
rs759989013	p.Arg13Cys	missense variant	-	NC_000006.12:g.150865859C>T	ExAC,TOPMed,gnomAD
rs1273851891	p.Arg13His	missense variant	-	NC_000006.12:g.150865860G>A	gnomAD
rs1384972168	p.Arg14Cys	missense variant	-	NC_000006.12:g.150865862C>T	TOPMed
rs1483108179	p.Pro15Gln	missense variant	-	NC_000006.12:g.150865866C>A	TOPMed,gnomAD
rs1362307986	p.Pro15Ser	missense variant	-	NC_000006.12:g.150865865C>T	gnomAD
rs1483108179	p.Pro15Leu	missense variant	-	NC_000006.12:g.150865866C>T	TOPMed,gnomAD
rs1270189287	p.Gln17Glu	missense variant	-	NC_000006.12:g.150865871C>G	TOPMed,gnomAD
rs763631489	p.Pro18Ser	missense variant	-	NC_000006.12:g.150865874C>T	ExAC,TOPMed,gnomAD
rs1294647858	p.Pro22Ser	missense variant	-	NC_000006.12:g.150865886C>T	gnomAD
rs1489952771	p.Pro22Gln	missense variant	-	NC_000006.12:g.150865887C>A	gnomAD
rs1425174562	p.Pro28Ser	missense variant	-	NC_000006.12:g.150865904C>T	TOPMed,gnomAD
rs1447831103	p.Cys29Ser	missense variant	-	NC_000006.12:g.150865908G>C	TOPMed
rs1286367220	p.Arg30Ser	missense variant	-	NC_000006.12:g.150865910C>A	TOPMed
rs1190961353	p.Ala31Ser	missense variant	-	NC_000006.12:g.150865913G>T	gnomAD
rs879410757	p.Ala31Gly	missense variant	-	NC_000006.12:g.150865914C>G	TOPMed,gnomAD
rs1267504468	p.Ser33Asn	missense variant	-	NC_000006.12:g.150865920G>A	TOPMed
rs1185004228	p.Gly34Ser	missense variant	-	NC_000006.12:g.150865922G>A	gnomAD
rs961300669	p.Gly34Asp	missense variant	-	NC_000006.12:g.150865923G>A	TOPMed,gnomAD
rs917897729	p.Gly36Ser	missense variant	-	NC_000006.12:g.150865928G>A	TOPMed
rs1380673640	p.Gly41Ser	missense variant	-	NC_000006.12:g.150865943G>A	TOPMed,gnomAD
rs1277656894	p.Arg43Pro	missense variant	-	NC_000006.12:g.150865950G>C	gnomAD
rs1445341506	p.Glu44Asp	missense variant	-	NC_000006.12:g.150865954G>T	gnomAD
rs1475849539	p.Leu46Met	missense variant	-	NC_000006.12:g.150865958C>A	TOPMed
rs926717697	p.Leu47Phe	missense variant	-	NC_000006.12:g.150865961C>T	TOPMed,gnomAD
rs552327319	p.Gln49His	missense variant	-	NC_000006.12:g.150865969G>C	1000Genomes
rs1367419600	p.Pro52Ser	missense variant	-	NC_000006.12:g.150865976C>T	gnomAD
rs1351237228	p.Asp54Asn	missense variant	-	NC_000006.12:g.150865982G>A	TOPMed
rs1253723013	p.Gly55Ser	missense variant	-	NC_000006.12:g.150865985G>A	TOPMed
rs1322576014	p.Gly55Val	missense variant	-	NC_000006.12:g.150865986G>T	gnomAD
rs1323466389	p.Ala57Pro	missense variant	-	NC_000006.12:g.150865991G>C	TOPMed
rs1287410355	p.Arg58Gly	missense variant	-	NC_000006.12:g.150865994C>G	TOPMed
rs1339624366	p.Ser59Thr	missense variant	-	NC_000006.12:g.150865998G>C	TOPMed
rs1299453169	p.Pro63Ala	missense variant	-	NC_000006.12:g.150866009C>G	TOPMed
rs1317772007	p.Gly64Ser	missense variant	-	NC_000006.12:g.150866012G>A	gnomAD
rs756893441	p.Gly65Cys	missense variant	-	NC_000006.12:g.150866015G>T	ExAC,TOPMed,gnomAD
rs756893441	p.Gly65Ser	missense variant	-	NC_000006.12:g.150866015G>A	ExAC,TOPMed,gnomAD
rs1312105637	p.Thr67Lys	missense variant	-	NC_000006.12:g.150866022C>A	TOPMed,gnomAD
rs1312105637	p.Thr67Arg	missense variant	-	NC_000006.12:g.150866022C>G	TOPMed,gnomAD
rs1053900238	p.Pro68Leu	missense variant	-	NC_000006.12:g.150866025C>T	TOPMed,gnomAD
rs1053900238	p.Pro68His	missense variant	-	NC_000006.12:g.150866025C>A	TOPMed,gnomAD
rs1410942851	p.Ala69Thr	missense variant	-	NC_000006.12:g.150866027G>A	TOPMed
rs1209785715	p.Ala69Val	missense variant	-	NC_000006.12:g.150866028C>T	TOPMed,gnomAD
rs1285311883	p.Ala70Gly	missense variant	-	NC_000006.12:g.150866031C>G	gnomAD
rs1258131764	p.Asp72Ala	missense variant	-	NC_000006.12:g.150866037A>C	gnomAD
rs1449129324	p.Ser73Pro	missense variant	-	NC_000006.12:g.150866039T>C	gnomAD
rs1213848200	p.Ile74Thr	missense variant	-	NC_000006.12:g.150866043T>C	gnomAD
rs1241798520	p.Val75Gly	missense variant	-	NC_000006.12:g.150866046T>G	TOPMed,gnomAD
rs1449100329	p.Arg76Lys	missense variant	-	NC_000006.12:g.150866049G>A	TOPMed
rs1445284688	p.Arg76Ter	stop gained	-	NC_000006.12:g.150866048A>T	gnomAD
rs752691220	p.Val78Gly	missense variant	-	NC_000006.12:g.150876095T>G	ExAC,TOPMed,gnomAD
rs758500649	p.Val85Ile	missense variant	-	NC_000006.12:g.150876115G>A	ExAC,gnomAD
rs778028489	p.Leu86Ile	missense variant	-	NC_000006.12:g.150876118C>A	ExAC,TOPMed,gnomAD
rs771110218	p.Ser87Asn	missense variant	-	NC_000006.12:g.150876122G>A	ExAC,TOPMed,gnomAD
rs1370330949	p.Gln90Pro	missense variant	-	NC_000006.12:g.150876131A>C	TOPMed
rs574811900	p.Lys92Asn	missense variant	-	NC_000006.12:g.150876138A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1463154196	p.Lys92Glu	missense variant	-	NC_000006.12:g.150876136A>G	gnomAD
rs746288510	p.Asn93Thr	missense variant	-	NC_000006.12:g.150876140A>C	ExAC,gnomAD
rs200932801	p.Asn93Lys	missense variant	-	NC_000006.12:g.150876141C>A	1000Genomes,ExAC,gnomAD
rs1422023663	p.Pro94Ser	missense variant	-	NC_000006.12:g.150876142C>T	TOPMed
rs771532672	p.Ala95Thr	missense variant	-	NC_000006.12:g.150876145G>A	ExAC,TOPMed,gnomAD
rs1454679762	p.Phe96Leu	missense variant	-	NC_000006.12:g.150876150C>G	gnomAD
rs772750317	p.Lys97Asn	missense variant	-	NC_000006.12:g.150876153G>T	ExAC,gnomAD
rs1290821658	p.Lys97Met	missense variant	-	NC_000006.12:g.150876152A>T	gnomAD
rs760359979	p.Pro98Arg	missense variant	-	NC_000006.12:g.150876155C>G	ExAC,TOPMed,gnomAD
rs760359979	p.Pro98Leu	missense variant	-	NC_000006.12:g.150876155C>T	ExAC,TOPMed,gnomAD
rs1295842575	p.Ala101Gly	missense variant	-	NC_000006.12:g.150876164C>G	gnomAD
rs199978377	p.Ile103Met	missense variant	-	NC_000006.12:g.150876171C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1046485608	p.Ala105Thr	missense variant	-	NC_000006.12:g.150877634G>A	TOPMed
rs972460542	p.Gly106Ser	missense variant	-	NC_000006.12:g.150877637G>A	TOPMed
rs116360932	p.Asp108Asn	missense variant	-	NC_000006.12:g.150877643G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1325032807	p.Asp108Glu	missense variant	-	NC_000006.12:g.150877645C>G	gnomAD
rs116360932	p.Asp108His	missense variant	-	NC_000006.12:g.150877643G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1207496975	p.Leu110Ser	missense variant	-	NC_000006.12:g.150877650T>C	TOPMed,gnomAD
rs775574496	p.Met111Ile	missense variant	-	NC_000006.12:g.150877654G>T	gnomAD
rs775574496	p.Met111Ile	missense variant	-	NC_000006.12:g.150877654G>A	gnomAD
rs1033874659	p.Gln112His	missense variant	-	NC_000006.12:g.150877657G>C	TOPMed,gnomAD
rs780376852	p.Glu113Gly	missense variant	-	NC_000006.12:g.150877659A>G	ExAC,gnomAD
rs1472483788	p.Asn117Ser	missense variant	-	NC_000006.12:g.150877671A>G	gnomAD
rs1200366401	p.Glu121Lys	missense variant	-	NC_000006.12:g.150877682G>A	gnomAD
rs1351412221	p.Gly123Ala	missense variant	-	NC_000006.12:g.150877777G>C	gnomAD
rs1195534342	p.Ile126Val	missense variant	-	NC_000006.12:g.150877785A>G	TOPMed
rs779276557	p.Ile126Met	missense variant	-	NC_000006.12:g.150877787C>G	ExAC,gnomAD
rs748567775	p.Thr127Ile	missense variant	-	NC_000006.12:g.150877789C>T	ExAC,gnomAD
rs1014529608	p.His128Tyr	missense variant	-	NC_000006.12:g.150877791C>T	gnomAD
rs764043398	p.His128Arg	missense variant	-	NC_000006.12:g.150877792A>G	ExAC,TOPMed,gnomAD
rs1036946187	p.Cys130Gly	missense variant	-	NC_000006.12:g.150877797T>G	TOPMed
rs1294351387	p.Pro132Leu	missense variant	-	NC_000006.12:g.150877804C>T	gnomAD
rs745453249	p.Pro133Ala	missense variant	-	NC_000006.12:g.150877806C>G	ExAC,TOPMed,gnomAD
rs769436677	p.Asp134Asn	missense variant	-	NC_000006.12:g.150877809G>A	ExAC,TOPMed,gnomAD
rs775229331	p.Asp134Val	missense variant	-	NC_000006.12:g.150877810A>T	ExAC,gnomAD
rs1186821750	p.Ser135Asn	missense variant	-	NC_000006.12:g.150877813G>A	gnomAD
rs768531413	p.Ser136Arg	missense variant	-	NC_000006.12:g.150877817T>G	ExAC,TOPMed,gnomAD
rs1164169795	p.Ala138Thr	missense variant	-	NC_000006.12:g.150877821G>A	gnomAD
rs761637670	p.Glu139Lys	missense variant	-	NC_000006.12:g.150877824G>A	ExAC,TOPMed,gnomAD
rs190762212	p.Ile141Val	missense variant	-	NC_000006.12:g.150882765A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1247232238	p.Leu145Ter	stop gained	-	NC_000006.12:g.150882778T>G	TOPMed
rs1336713094	p.Lys146Asn	missense variant	-	NC_000006.12:g.150882782G>T	gnomAD
rs1013122691	p.Asn148Lys	missense variant	-	NC_000006.12:g.150882788T>G	TOPMed,gnomAD
rs756135532	p.Asn148Ser	missense variant	-	NC_000006.12:g.150882787A>G	ExAC,TOPMed,gnomAD
rs200199559	p.Arg152Lys	missense variant	-	NC_000006.12:g.150882799G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200199559	p.Arg152Thr	missense variant	-	NC_000006.12:g.150882799G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1267799753	p.Val153Ala	missense variant	-	NC_000006.12:g.150882802T>C	gnomAD
rs563502628	p.Ala157Val	missense variant	-	NC_000006.12:g.150882814C>T	TOPMed
rs773149268	p.Ala157Thr	missense variant	-	NC_000006.12:g.150882813G>A	ExAC,gnomAD
rs1044942130	p.Leu158Val	missense variant	-	NC_000006.12:g.150882816C>G	TOPMed
rs780140904	p.Gln159His	missense variant	-	NC_000006.12:g.150882821G>C	ExAC,gnomAD
rs780140904	p.Gln159His	missense variant	-	NC_000006.12:g.150882821G>T	ExAC,gnomAD
rs759740003	p.Ile160Leu	missense variant	-	NC_000006.12:g.150882822A>C	ExAC,gnomAD
rs1157955113	p.Glu162Lys	missense variant	-	NC_000006.12:g.150882828G>A	TOPMed
rs765560044	p.Glu162Val	missense variant	-	NC_000006.12:g.150882829A>T	ExAC,gnomAD
rs1445063804	p.Ser166Asn	missense variant	-	NC_000006.12:g.150882841G>A	TOPMed
rs764389984	p.Lys168Glu	missense variant	-	NC_000006.12:g.150882846A>G	ExAC,gnomAD
rs752072207	p.Leu170Phe	missense variant	-	NC_000006.12:g.150882852C>T	ExAC,gnomAD
rs1173762712	p.Asn171Ser	missense variant	-	NC_000006.12:g.150882856A>G	gnomAD
rs1386822368	p.Asn171Asp	missense variant	-	NC_000006.12:g.150882855A>G	TOPMed
rs1421496200	p.Lys174Thr	missense variant	-	NC_000006.12:g.150882865A>C	TOPMed,gnomAD
rs141973185	p.Lys174Glu	missense variant	-	NC_000006.12:g.150882864A>G	ESP,ExAC,TOPMed,gnomAD
rs753459390	p.Asp178Gly	missense variant	-	NC_000006.12:g.150882877A>G	ExAC,TOPMed,gnomAD
rs1372778546	p.Asp180Glu	missense variant	-	NC_000006.12:g.150882884T>G	TOPMed,gnomAD
rs1206432996	p.Asp180Val	missense variant	-	NC_000006.12:g.150882883A>T	TOPMed
rs1388689366	p.Val182Leu	missense variant	-	NC_000006.12:g.150885635G>T	gnomAD
rs775733841	p.Thr183Ala	missense variant	-	NC_000006.12:g.150885638A>G	ExAC,gnomAD
rs1178771032	p.Thr183Ile	missense variant	-	NC_000006.12:g.150885639C>T	TOPMed
rs763116264	p.Ile185Val	missense variant	-	NC_000006.12:g.150885644A>G	ExAC,gnomAD
rs1481301943	p.Ile185Thr	missense variant	-	NC_000006.12:g.150885645T>C	TOPMed
rs1228330095	p.Asn186Ser	missense variant	-	NC_000006.12:g.150885648A>G	gnomAD
rs774908616	p.Lys189Asn	missense variant	-	NC_000006.12:g.150885658G>C	ExAC,gnomAD
rs1204354944	p.Leu190Pro	missense variant	-	NC_000006.12:g.150885660T>C	TOPMed
rs1211243722	p.Arg192Ter	stop gained	-	NC_000006.12:g.150885665C>T	TOPMed,gnomAD
rs750978722	p.Arg192Gln	missense variant	-	NC_000006.12:g.150885666G>A	ExAC,TOPMed,gnomAD
rs1450538226	p.Ala195Thr	missense variant	-	NC_000006.12:g.150885674G>A	gnomAD
rs1448156543	p.Pro202Thr	missense variant	-	NC_000006.12:g.150885695C>A	gnomAD
rs1369385942	p.Val203Ile	missense variant	-	NC_000006.12:g.150885698G>A	gnomAD
rs764681771	p.Ala204Thr	missense variant	-	NC_000006.12:g.150885701G>A	ExAC,gnomAD
rs202128387	p.Val207Leu	missense variant	-	NC_000006.12:g.150885710G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202128387	p.Val207Ile	missense variant	-	NC_000006.12:g.150885710G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758034959	p.Leu210Phe	missense variant	-	NC_000006.12:g.150885719C>T	ExAC,TOPMed,gnomAD
rs1322558705	p.Leu211Arg	missense variant	-	NC_000006.12:g.150885723T>G	gnomAD
rs777529589	p.Glu212Gly	missense variant	-	NC_000006.12:g.150885726A>G	ExAC,gnomAD
rs1371221387	p.Val215Leu	missense variant	-	NC_000006.12:g.150885734G>C	TOPMed
rs1371221387	p.Val215Ile	missense variant	-	NC_000006.12:g.150885734G>A	TOPMed
rs763170805	p.Val215Ala	missense variant	-	NC_000006.12:g.150887842T>C	ExAC,TOPMed,gnomAD
rs761122879	p.Gly216Cys	missense variant	-	NC_000006.12:g.150887844G>T	ExAC,gnomAD
rs1020291479	p.Gly216Asp	missense variant	-	NC_000006.12:g.150887845G>A	TOPMed,gnomAD
rs1020291479	p.Gly216Val	missense variant	-	NC_000006.12:g.150887845G>T	TOPMed,gnomAD
rs150695212	p.Asp220Gly	missense variant	-	NC_000006.12:g.150887857A>G	ESP,ExAC,TOPMed,gnomAD
rs188595740	p.Gly221Val	missense variant	-	NC_000006.12:g.150887860G>T	1000Genomes
rs917428267	p.Lys222Arg	missense variant	-	NC_000006.12:g.150887863A>G	TOPMed
rs1159185263	p.Lys223Thr	missense variant	-	NC_000006.12:g.150887866A>C	TOPMed
rs758064126	p.Gly228Arg	missense variant	-	NC_000006.12:g.150887880G>A	ExAC,gnomAD
rs763668586	p.His230Tyr	missense variant	-	NC_000006.12:g.150887886C>T	ExAC,gnomAD
rs763668586	p.His230Asp	missense variant	-	NC_000006.12:g.150887886C>G	ExAC,gnomAD
rs745788521	p.Gln238Arg	missense variant	-	NC_000006.12:g.150887911A>G	ExAC,TOPMed,gnomAD
rs749398298	p.Leu240Val	missense variant	-	NC_000006.12:g.150887916C>G	ExAC,TOPMed,gnomAD
rs1475718716	p.Gln242Pro	missense variant	-	NC_000006.12:g.150887923A>C	TOPMed
rs139687564	p.Lys244Glu	missense variant	-	NC_000006.12:g.150887928A>G	ESP,ExAC,TOPMed,gnomAD
rs748408811	p.Lys244Arg	missense variant	-	NC_000006.12:g.150887929A>G	ExAC,TOPMed,gnomAD
rs1301060718	p.Gly245Val	missense variant	-	NC_000006.12:g.150887932G>T	gnomAD
rs1301060718	p.Gly245Ala	missense variant	-	NC_000006.12:g.150887932G>C	gnomAD
rs772530357	p.Met247Val	missense variant	-	NC_000006.12:g.150887937A>G	ExAC,gnomAD
rs773755987	p.Thr248Ile	missense variant	-	NC_000006.12:g.150887941C>T	ExAC,gnomAD
rs761230641	p.Met249Val	missense variant	-	NC_000006.12:g.150887943A>G	ExAC,TOPMed,gnomAD
rs200812230	p.Met249Thr	missense variant	-	NC_000006.12:g.150887944T>C	TOPMed,gnomAD
rs777198342	p.Ser250Arg	missense variant	-	NC_000006.12:g.150887948C>G	ExAC,TOPMed,gnomAD
rs376881399	p.Ser250Arg	missense variant	-	NC_000006.12:g.150887946A>C	ESP,ExAC,TOPMed,gnomAD
rs762310271	p.Gln252His	missense variant	-	NC_000006.12:g.150887954G>C	ExAC,gnomAD
rs763617740	p.Thr255Ala	missense variant	-	NC_000006.12:g.150887961A>G	ExAC,TOPMed,gnomAD
rs1255971044	p.Thr255Ile	missense variant	-	NC_000006.12:g.150887962C>T	gnomAD
rs1207817931	p.Arg256His	missense variant	-	NC_000006.12:g.150887965G>A	TOPMed,gnomAD
rs142599909	p.Arg256Cys	missense variant	-	NC_000006.12:g.150887964C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761493886	p.Gln257Arg	missense variant	-	NC_000006.12:g.150887968A>G	ExAC,gnomAD
rs144664749	p.Gln257His	missense variant	-	NC_000006.12:g.150887969G>T	ESP,ExAC,TOPMed,gnomAD
rs756078169	p.Gln259His	missense variant	-	NC_000006.12:g.150887975A>C	ExAC,gnomAD
rs750247107	p.Gln259Arg	missense variant	-	NC_000006.12:g.150887974A>G	ExAC,gnomAD
rs1320906603	p.Glu264Lys	missense variant	-	NC_000006.12:g.150905656G>A	TOPMed
rs544225773	p.Ala265Thr	missense variant	-	NC_000006.12:g.150905659G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1223818690	p.Asp266Tyr	missense variant	-	NC_000006.12:g.150905662G>T	TOPMed
rs753684815	p.Ile267Phe	missense variant	-	NC_000006.12:g.150905665A>T	ExAC,TOPMed,gnomAD
rs753684815	p.Ile267Val	missense variant	-	NC_000006.12:g.150905665A>G	ExAC,TOPMed,gnomAD
rs1442101988	p.Val268Met	missense variant	-	NC_000006.12:g.150905668G>A	TOPMed
rs1206977154	p.Val268Ala	missense variant	-	NC_000006.12:g.150905669T>C	gnomAD
rs779119998	p.Leu270Pro	missense variant	-	NC_000006.12:g.150905675T>C	ExAC,gnomAD
rs1446293645	p.Gly271Arg	missense variant	-	NC_000006.12:g.150905677G>C	gnomAD
rs1238942937	p.Ser272Pro	missense variant	-	NC_000006.12:g.150905680T>C	gnomAD
rs564099264	p.Pro273Leu	missense variant	-	NC_000006.12:g.150905684C>T	1000Genomes,ExAC,gnomAD
rs758556115	p.Pro273Thr	missense variant	-	NC_000006.12:g.150905683C>A	ExAC
rs771161505	p.Pro275Ser	missense variant	-	NC_000006.12:g.150905689C>T	ExAC,gnomAD
rs1306805680	p.Pro275Leu	missense variant	-	NC_000006.12:g.150905690C>T	gnomAD
rs781652142	p.Glu276Gly	missense variant	-	NC_000006.12:g.150905693A>G	ExAC,gnomAD
rs746353168	p.Ile278Phe	missense variant	-	NC_000006.12:g.150905698A>T	ExAC,gnomAD
rs746353168	p.Ile278Leu	missense variant	-	NC_000006.12:g.150905698A>C	ExAC,gnomAD
rs770345180	p.Thr281Ile	missense variant	-	NC_000006.12:g.150905708C>T	ExAC,gnomAD
rs1357762813	p.Gln284Arg	missense variant	-	NC_000006.12:g.150905717A>G	gnomAD
rs747595859	p.Pro285Thr	missense variant	-	NC_000006.12:g.150905719C>A	ExAC,gnomAD
rs771627882	p.Gly286Glu	missense variant	-	NC_000006.12:g.150905723G>A	ExAC,gnomAD
rs772693578	p.Val289Leu	missense variant	-	NC_000006.12:g.150905731G>C	ExAC,gnomAD
rs1345839358	p.Asn291Ser	missense variant	-	NC_000006.12:g.150905738A>G	gnomAD
rs1339039642	p.Ser293Phe	missense variant	-	NC_000006.12:g.150905744C>T	TOPMed
rs766063498	p.His294Arg	missense variant	-	NC_000006.12:g.150905747A>G	ExAC,gnomAD
rs766063498	p.His294Leu	missense variant	-	NC_000006.12:g.150905747A>T	ExAC,gnomAD
rs776621458	p.Phe296Leu	missense variant	-	NC_000006.12:g.150905754C>G	ExAC,gnomAD
rs1280728867	p.Phe296Tyr	missense variant	-	NC_000006.12:g.150905753T>A	gnomAD
rs143283631	p.Gly299Glu	missense variant	-	NC_000006.12:g.150918577G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1163103180	p.Lys300Arg	missense variant	-	NC_000006.12:g.150918580A>G	gnomAD
rs901007927	p.Val301Ile	missense variant	-	NC_000006.12:g.150918582G>A	TOPMed
rs1393802287	p.Gly302Trp	missense variant	-	NC_000006.12:g.150918585G>T	TOPMed,gnomAD
rs780431715	p.Cys303Ser	missense variant	-	NC_000006.12:g.150918588T>A	ExAC
rs755563858	p.Gly304Val	missense variant	-	NC_000006.12:g.150918592G>T	ExAC,gnomAD
rs777139930	p.Ser305Phe	missense variant	-	NC_000006.12:g.150918595C>T	ExAC,gnomAD
rs1390659109	p.Ser305Pro	missense variant	-	NC_000006.12:g.150918594T>C	gnomAD
rs190251947	p.Pro306Ser	missense variant	-	NC_000006.12:g.150918597C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1336525116	p.Pro306Leu	missense variant	-	NC_000006.12:g.150918598C>T	TOPMed
rs190251947	p.Pro306Ala	missense variant	-	NC_000006.12:g.150918597C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1340875129	p.His309Arg	missense variant	-	NC_000006.12:g.150918607A>G	gnomAD
rs770360207	p.Phe310Leu	missense variant	-	NC_000006.12:g.150918611T>G	ExAC,gnomAD
rs780943368	p.Gly311Val	missense variant	-	NC_000006.12:g.150918613G>T	ExAC,TOPMed,gnomAD
rs745544150	p.Gly312Val	missense variant	-	NC_000006.12:g.150918616G>T	ExAC,gnomAD
rs1208738220	p.Leu313Pro	missense variant	-	NC_000006.12:g.150918619T>C	gnomAD
rs775477103	p.Ile314Phe	missense variant	-	NC_000006.12:g.150918621A>T	ExAC,TOPMed,gnomAD
rs762788269	p.Ile314Thr	missense variant	-	NC_000006.12:g.150918622T>C	ExAC,gnomAD
rs775477103	p.Ile314Val	missense variant	-	NC_000006.12:g.150918621A>G	ExAC,TOPMed,gnomAD
rs1257266984	p.Glu316Gly	missense variant	-	NC_000006.12:g.150918628A>G	gnomAD
rs1425980424	p.Asp317Gly	missense variant	-	NC_000006.12:g.150918631A>G	gnomAD
rs374371626	p.Asp318Gly	missense variant	-	NC_000006.12:g.150918634A>G	ESP,ExAC,TOPMed,gnomAD
rs371885160	p.Asp318Asn	missense variant	-	NC_000006.12:g.150918633G>A	ESP,TOPMed
rs774161080	p.Leu322Val	missense variant	-	NC_000006.12:g.150918645C>G	ExAC,TOPMed,gnomAD
rs1013873394	p.Ala325Val	missense variant	-	NC_000006.12:g.150918655C>T	gnomAD
rs1310854015	p.Arg327Ter	stop gained	-	NC_000006.12:g.150918660C>T	gnomAD
rs969380460	p.Arg327Gln	missense variant	-	NC_000006.12:g.150918661G>A	TOPMed,gnomAD
rs773334285	p.Met331Thr	missense variant	-	NC_000006.12:g.150922209T>C	ExAC,TOPMed,gnomAD
rs760878500	p.Gly335Glu	missense variant	-	NC_000006.12:g.150922221G>A	ExAC,gnomAD
rs760878500	p.Gly335Val	missense variant	-	NC_000006.12:g.150922221G>T	ExAC,gnomAD
rs1263146193	p.Arg336Lys	missense variant	-	NC_000006.12:g.150922224G>A	TOPMed
rs766519360	p.Arg340Cys	missense variant	-	NC_000006.12:g.150922235C>T	ExAC,TOPMed,gnomAD
rs999834288	p.Arg340His	missense variant	-	NC_000006.12:g.150922236G>A	TOPMed,gnomAD
rs754017330	p.Gln343Arg	missense variant	-	NC_000006.12:g.150922245A>G	ExAC,TOPMed,gnomAD
rs754017330	p.Gln343Pro	missense variant	-	NC_000006.12:g.150922245A>C	ExAC,TOPMed,gnomAD
rs759894018	p.Gln343His	missense variant	-	NC_000006.12:g.150922246G>C	ExAC,gnomAD
rs567950016	p.His344Asp	missense variant	-	NC_000006.12:g.150922247C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs536864868	p.Arg346Trp	missense variant	-	NC_000006.12:g.150922253C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1231450447	p.Arg346Leu	missense variant	-	NC_000006.12:g.150922254G>T	gnomAD
rs1231450447	p.Arg346Gln	missense variant	-	NC_000006.12:g.150922254G>A	gnomAD
rs74451809	p.Trp347Arg	missense variant	-	NC_000006.12:g.150922256T>C	ExAC,gnomAD
rs74451809	p.Trp347Gly	missense variant	-	NC_000006.12:g.150922256T>G	ExAC,gnomAD
rs780837063	p.Arg348Ser	missense variant	-	NC_000006.12:g.150922261A>C	ExAC,gnomAD
rs1465992328	p.Cys351Phe	missense variant	-	NC_000006.12:g.150922269G>T	gnomAD
rs750021177	p.Cys351Arg	missense variant	-	NC_000006.12:g.150922268T>C	ExAC,gnomAD
rs1401208882	p.Gln355Ter	stop gained	-	NC_000006.12:g.150922280C>T	-
rs1400340939	p.Pro356Leu	missense variant	-	NC_000006.12:g.150922284C>T	gnomAD
rs775876412	p.Leu357Phe	missense variant	-	NC_000006.12:g.150922286C>T	ExAC,gnomAD
rs779796264	p.Val360Leu	missense variant	-	NC_000006.12:g.150922295G>C	ExAC,gnomAD
rs779796264	p.Val360Met	missense variant	-	NC_000006.12:g.150922295G>A	ExAC,gnomAD
rs968269167	p.Ile364Val	missense variant	-	NC_000006.12:g.150926126A>G	TOPMed,gnomAD
rs978685442	p.Ser367Ter	stop gained	-	NC_000006.12:g.150926136C>G	TOPMed
rs367598413	p.Gln370His	missense variant	-	NC_000006.12:g.150926146A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1229085674	p.Pro372Ala	missense variant	-	NC_000006.12:g.150926150C>G	gnomAD
rs186968414	p.Ala374Ser	missense variant	-	NC_000006.12:g.150926156G>T	1000Genomes,TOPMed
rs746978368	p.Val375Met	missense variant	-	NC_000006.12:g.150926159G>A	ExAC,gnomAD
rs61754784	p.Asp376Gly	missense variant	-	NC_000006.12:g.150926163A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs867471007	p.Asp376Asn	missense variant	-	NC_000006.12:g.150926162G>A	TOPMed,gnomAD
rs145541103	p.Lys380Arg	missense variant	-	NC_000006.12:g.150926175A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370374961	p.Glu381Lys	missense variant	-	NC_000006.12:g.150926177G>A	ESP,ExAC,gnomAD
rs1200556159	p.Glu381Gly	missense variant	-	NC_000006.12:g.150926178A>G	TOPMed
rs775785100	p.Ile382Phe	missense variant	-	NC_000006.12:g.150926180A>T	ExAC,TOPMed,gnomAD
rs1419656655	p.Ile382Met	missense variant	-	NC_000006.12:g.150926182T>G	gnomAD
rs1182069042	p.Ile382Thr	missense variant	-	NC_000006.12:g.150926181T>C	gnomAD
rs1474022377	p.Gly383Val	missense variant	-	NC_000006.12:g.150926184G>T	gnomAD
rs148879377	p.Ile389Val	missense variant	-	NC_000006.12:g.150926201A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142684557	p.Ile391Thr	missense variant	-	NC_000006.12:g.150926208T>C	ESP,ExAC,TOPMed,gnomAD
rs753350178	p.Tyr392Ser	missense variant	-	NC_000006.12:g.150926211A>C	ExAC,TOPMed,gnomAD
rs765895487	p.Tyr392Asn	missense variant	-	NC_000006.12:g.150926210T>A	ExAC,gnomAD
rs753350178	p.Tyr392Cys	missense variant	-	NC_000006.12:g.150926211A>G	ExAC,TOPMed,gnomAD
rs1214405509	p.Gly393Ser	missense variant	-	NC_000006.12:g.150926213G>A	TOPMed
rs754517183	p.Lys396Gln	missense variant	-	NC_000006.12:g.150926222A>C	ExAC,gnomAD
rs764736868	p.Lys398Arg	missense variant	-	NC_000006.12:g.150926229A>G	ExAC,gnomAD
rs200840782	p.Arg400His	missense variant	-	NC_000006.12:g.150926235G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs151023222	p.Arg400Cys	missense variant	-	NC_000006.12:g.150926234C>T	ESP,ExAC,TOPMed,gnomAD
rs751475807	p.Val403Met	missense variant	-	NC_000006.12:g.150926243G>A	ExAC,TOPMed,gnomAD
rs781328354	p.Arg406Thr	missense variant	-	NC_000006.12:g.150926253G>C	ExAC,gnomAD
rs1259367690	p.Asp409Asn	missense variant	-	NC_000006.12:g.150926261G>A	gnomAD
rs1377476281	p.Gln410Glu	missense variant	-	NC_000006.12:g.150926264C>G	TOPMed,gnomAD
rs746343699	p.Asp412Gly	missense variant	-	NC_000006.12:g.150926271A>G	ExAC,TOPMed,gnomAD
rs1484464508	p.Asp412Asn	missense variant	-	NC_000006.12:g.150926270G>A	gnomAD
rs1297649071	p.Lys414Asn	missense variant	-	NC_000006.12:g.150926278A>C	gnomAD
rs780375364	p.Tyr415Cys	missense variant	-	NC_000006.12:g.150926280A>G	ExAC,gnomAD
rs769113744	p.Val416Ile	missense variant	-	NC_000006.12:g.150926282G>A	ExAC,TOPMed,gnomAD
rs1415562590	p.Val416Gly	missense variant	-	NC_000006.12:g.150926283T>G	gnomAD
rs1374057224	p.Val418Ile	missense variant	-	NC_000006.12:g.150926288G>A	gnomAD
rs769062583	p.Thr422Ser	missense variant	-	NC_000006.12:g.150936808A>T	ExAC,gnomAD
rs1216082685	p.Thr422Ile	missense variant	-	NC_000006.12:g.150936809C>T	gnomAD
rs1454221965	p.Leu426Pro	missense variant	-	NC_000006.12:g.150936821T>C	gnomAD
rs893396542	p.Ile435Ser	missense variant	-	NC_000006.12:g.150936848T>G	TOPMed,gnomAD
rs994223132	p.Ile435Val	missense variant	-	NC_000006.12:g.150936847A>G	TOPMed
rs772504344	p.Gly436Arg	missense variant	-	NC_000006.12:g.150936850G>A	ExAC,TOPMed,gnomAD
rs1391532390	p.Val438Met	missense variant	-	NC_000006.12:g.150936856G>A	gnomAD
rs966166911	p.Gln439His	missense variant	-	NC_000006.12:g.150936861G>C	TOPMed
rs1463144565	p.Gln439Arg	missense variant	-	NC_000006.12:g.150936860A>G	gnomAD
rs1323982532	p.Ala440Thr	missense variant	-	NC_000006.12:g.150936862G>A	gnomAD
rs769162434	p.Ala443Pro	missense variant	-	NC_000006.12:g.150936871G>C	ExAC,TOPMed,gnomAD
rs769162434	p.Ala443Ser	missense variant	-	NC_000006.12:g.150936871G>T	ExAC,TOPMed,gnomAD
rs769162434	p.Ala443Thr	missense variant	-	NC_000006.12:g.150936871G>A	ExAC,TOPMed,gnomAD
rs953153626	p.Ala443Val	missense variant	-	NC_000006.12:g.150936872C>T	TOPMed,gnomAD
rs763670576	p.His444Asn	missense variant	-	NC_000006.12:g.150936874C>A	ExAC,gnomAD
rs767378904	p.Asn448Ser	missense variant	-	NC_000006.12:g.150936887A>G	ExAC,TOPMed,gnomAD
rs753744433	p.Asn448Asp	missense variant	-	NC_000006.12:g.150936886A>G	ExAC,gnomAD
rs1280262128	p.Phe450Leu	missense variant	-	NC_000006.12:g.150936892T>C	TOPMed
rs750300124	p.Ala451Thr	missense variant	-	NC_000006.12:g.150936895G>A	ExAC,gnomAD
rs756128526	p.Gly459Ala	missense variant	-	NC_000006.12:g.150936920G>C	ExAC,gnomAD
rs146669423	p.Pro460Leu	missense variant	-	NC_000006.12:g.150936923C>T	ESP,ExAC,TOPMed,gnomAD
rs755118470	p.Thr461Met	missense variant	-	NC_000006.12:g.150936926C>T	ExAC,gnomAD
rs376651691	p.Gly463Val	missense variant	-	NC_000006.12:g.150936932G>T	ESP,ExAC,TOPMed,gnomAD
rs372597629	p.Gly467Glu	missense variant	-	NC_000006.12:g.150938702G>A	ESP,ExAC,TOPMed,gnomAD
rs1281458363	p.Ala469Thr	missense variant	-	NC_000006.12:g.150938707G>A	gnomAD
rs757632976	p.Ala469Val	missense variant	-	NC_000006.12:g.150938708C>T	ExAC,TOPMed,gnomAD
rs1279959660	p.Gly470Ser	missense variant	-	NC_000006.12:g.150938710G>A	gnomAD
rs1481082991	p.Gly471Asp	missense variant	-	NC_000006.12:g.150938714G>A	gnomAD
rs1281763114	p.Gly472Arg	missense variant	-	NC_000006.12:g.150938716G>A	TOPMed
rs746406626	p.Tyr473Cys	missense variant	-	NC_000006.12:g.150938720A>G	ExAC,gnomAD
rs1417192386	p.Val476Ile	missense variant	-	NC_000006.12:g.150938728G>A	gnomAD
rs1177979376	p.Val476Ala	missense variant	-	NC_000006.12:g.150938729T>C	gnomAD
rs768126317	p.Ile477Val	missense variant	-	NC_000006.12:g.150938731A>G	ExAC,gnomAD
rs1436429510	p.Pro478Thr	missense variant	-	NC_000006.12:g.150938734C>A	gnomAD
rs773963293	p.Pro478Leu	missense variant	-	NC_000006.12:g.150938735C>T	ExAC,TOPMed,gnomAD
rs1347735605	p.Met479Ile	missense variant	-	NC_000006.12:g.150938739G>A	TOPMed
rs1358157942	p.Met479Leu	missense variant	-	NC_000006.12:g.150938737A>C	gnomAD
rs1462199020	p.Glu480Gly	missense variant	-	NC_000006.12:g.150938741A>G	gnomAD
rs1370596079	p.Glu481Ter	stop gained	-	NC_000006.12:g.150938743G>T	TOPMed,gnomAD
rs1370596079	p.Glu481Lys	missense variant	-	NC_000006.12:g.150938743G>A	TOPMed,gnomAD
rs771500631	p.Asn483Asp	missense variant	-	NC_000006.12:g.150944489A>G	ExAC,gnomAD
rs771500631	p.Asn483His	missense variant	-	NC_000006.12:g.150944489A>C	ExAC,gnomAD
rs777438425	p.Leu484Pro	missense variant	-	NC_000006.12:g.150944493T>C	ExAC,gnomAD
rs1233914222	p.Ile490Phe	missense variant	-	NC_000006.12:g.150944510A>T	gnomAD
rs776623457	p.Ile493Thr	missense variant	-	NC_000006.12:g.150944520T>C	ExAC,gnomAD
rs770824978	p.Ile493Val	missense variant	-	NC_000006.12:g.150944519A>G	ExAC,gnomAD
rs373263570	p.Thr494Ile	missense variant	-	NC_000006.12:g.150944523C>T	ESP,ExAC,TOPMed,gnomAD
rs982517091	p.Ala495Thr	missense variant	-	NC_000006.12:g.150944525G>A	TOPMed,gnomAD
rs769705393	p.Asn497Ser	missense variant	-	NC_000006.12:g.150944532A>G	ExAC,gnomAD
rs1238124308	p.Ala501Val	missense variant	-	NC_000006.12:g.150944544C>T	TOPMed
rs376972964	p.Ala503Val	missense variant	-	NC_000006.12:g.150944550C>T	1000Genomes,ExAC,gnomAD
rs751750277	p.Ala503Ser	missense variant	-	NC_000006.12:g.150944549G>T	ExAC,TOPMed,gnomAD
rs751750277	p.Ala503Thr	missense variant	-	NC_000006.12:g.150944549G>A	ExAC,TOPMed,gnomAD
rs1346143465	p.Asp505Asn	missense variant	-	NC_000006.12:g.150944555G>A	gnomAD
rs558610992	p.Thr506Met	missense variant	-	NC_000006.12:g.150944559C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1340066214	p.Arg507Ser	missense variant	-	NC_000006.12:g.150944563G>T	gnomAD
rs866519696	p.His510Tyr	missense variant	-	NC_000006.12:g.150944570C>T	TOPMed,gnomAD
rs1332835678	p.His510Arg	missense variant	-	NC_000006.12:g.150944571A>G	TOPMed,gnomAD
rs756478836	p.Thr513Met	missense variant	-	NC_000006.12:g.150944580C>T	ExAC,TOPMed,gnomAD
rs1317447125	p.Gln514Arg	missense variant	-	NC_000006.12:g.150944583A>G	TOPMed,gnomAD
rs1381426382	p.Asp516Val	missense variant	-	NC_000006.12:g.150944589A>T	TOPMed
rs1396615198	p.Asp516Tyr	missense variant	-	NC_000006.12:g.150944588G>T	TOPMed
rs754328248	p.Asp516Glu	missense variant	-	NC_000006.12:g.150944590T>G	ExAC,gnomAD
rs373281795	p.Ala518Thr	missense variant	-	NC_000006.12:g.150945467G>A	ESP,ExAC,TOPMed,gnomAD
rs751045689	p.Ala518Asp	missense variant	-	NC_000006.12:g.150945468C>A	ExAC,TOPMed,gnomAD
rs751045689	p.Ala518Val	missense variant	-	NC_000006.12:g.150945468C>T	ExAC,TOPMed,gnomAD
rs138249315	p.Tyr520Cys	missense variant	-	NC_000006.12:g.150945474A>G	ESP,ExAC,TOPMed,gnomAD
rs780943292	p.Asn521Ser	missense variant	-	NC_000006.12:g.150945477A>G	ExAC,gnomAD
rs149625114	p.Arg522Gln	missense variant	-	NC_000006.12:g.150945480G>A	ESP,ExAC,TOPMed,gnomAD
rs745485573	p.Arg522Trp	missense variant	-	NC_000006.12:g.150945479C>T	ExAC,gnomAD
rs1356391083	p.Val524Gly	missense variant	-	NC_000006.12:g.150945486T>G	gnomAD
rs563045408	p.Pro525Ser	missense variant	-	NC_000006.12:g.150945488C>T	ExAC,TOPMed,gnomAD
rs1234665514	p.Leu526Phe	missense variant	-	NC_000006.12:g.150945493A>T	TOPMed,gnomAD
rs138991456	p.Asn528Ser	missense variant	-	NC_000006.12:g.150945498A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1004058082	p.Gly529Asp	missense variant	-	NC_000006.12:g.150945501G>A	TOPMed
rs774265480	p.Val530Ile	missense variant	-	NC_000006.12:g.150945503G>A	ExAC,gnomAD
rs1258112786	p.Arg531Ser	missense variant	-	NC_000006.12:g.150945508A>T	TOPMed
rs748281067	p.Glu532Ala	missense variant	-	NC_000006.12:g.150945510A>C	ExAC,TOPMed,gnomAD
rs748281067	p.Glu532Gly	missense variant	-	NC_000006.12:g.150945510A>G	ExAC,TOPMed,gnomAD
rs772113366	p.Glu535Ala	missense variant	-	NC_000006.12:g.150945519A>C	ExAC,gnomAD
rs1197302685	p.Gln537His	missense variant	-	NC_000006.12:g.150945526G>T	gnomAD
rs1439109443	p.Gln537Arg	missense variant	-	NC_000006.12:g.150945525A>G	TOPMed,gnomAD
rs1455098577	p.Leu538His	missense variant	-	NC_000006.12:g.150945528T>A	gnomAD
rs773458764	p.Leu538Val	missense variant	-	NC_000006.12:g.150945527C>G	ExAC,TOPMed,gnomAD
rs773458764	p.Leu538Ile	missense variant	-	NC_000006.12:g.150945527C>A	ExAC,TOPMed,gnomAD
rs760762754	p.Arg540Trp	missense variant	-	NC_000006.12:g.150945533C>T	ExAC,TOPMed,gnomAD
rs766782362	p.Arg540Gln	missense variant	-	NC_000006.12:g.150945534G>A	ExAC,TOPMed,gnomAD
rs776796293	p.Leu541Val	missense variant	-	NC_000006.12:g.150945536C>G	ExAC,gnomAD
rs1318851953	p.Leu544Pro	missense variant	-	NC_000006.12:g.150949035T>C	TOPMed
rs1397781789	p.Ile546Thr	missense variant	-	NC_000006.12:g.150949041T>C	gnomAD
rs148383692	p.Asn547Lys	missense variant	-	NC_000006.12:g.150949045T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759868328	p.Asn547Ile	missense variant	-	NC_000006.12:g.150949044A>T	ExAC,gnomAD
rs763504150	p.Pro551Ala	missense variant	-	NC_000006.12:g.150949055C>G	ExAC,gnomAD
rs767147621	p.Pro551Arg	missense variant	-	NC_000006.12:g.150949056C>G	ExAC,TOPMed,gnomAD
rs767147621	p.Pro551Leu	missense variant	-	NC_000006.12:g.150949056C>T	ExAC,TOPMed,gnomAD
rs201027728	p.Thr553Ala	missense variant	-	NC_000006.12:g.150949061A>G	1000Genomes
rs147450268	p.Glu558Lys	missense variant	-	NC_000006.12:g.150949076G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139875348	p.Val559Met	missense variant	-	NC_000006.12:g.150949079G>A	ESP,ExAC,TOPMed
rs1486067012	p.Val559Gly	missense variant	-	NC_000006.12:g.150949080T>G	gnomAD
rs143892636	p.Ser560Asn	missense variant	-	NC_000006.12:g.150949083G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1422192091	p.Lys561Asn	missense variant	-	NC_000006.12:g.150949087A>T	gnomAD
rs754803780	p.Ala563Ser	missense variant	-	NC_000006.12:g.150949091G>T	ExAC,gnomAD
rs61748674	p.Arg564Leu	missense variant	-	NC_000006.12:g.150949095G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200530931	p.Arg564Cys	missense variant	-	NC_000006.12:g.150949094C>T	ESP,ExAC,TOPMed,gnomAD
rs61748674	p.Arg564His	missense variant	-	NC_000006.12:g.150949095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367558632	p.Asp566His	missense variant	-	NC_000006.12:g.150949100G>C	ESP,ExAC,TOPMed,gnomAD
rs367558632	p.Asp566Asn	missense variant	-	NC_000006.12:g.150949100G>A	ESP,ExAC,TOPMed,gnomAD
rs139147258	p.Asp568Asn	missense variant	-	NC_000006.12:g.150949106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376707119	p.Ser570Tyr	missense variant	-	NC_000006.12:g.150949113C>A	ESP,ExAC,TOPMed,gnomAD
rs1416017925	p.Ser570Thr	missense variant	-	NC_000006.12:g.150949112T>A	gnomAD
rs775939118	p.Thr571Ala	missense variant	-	NC_000006.12:g.150949115A>G	ExAC,TOPMed,gnomAD
rs1331838835	p.Ile572Val	missense variant	-	NC_000006.12:g.150949118A>G	TOPMed,gnomAD
rs149938963	p.Thr573Met	missense variant	-	NC_000006.12:g.150949122C>T	ESP,ExAC,TOPMed,gnomAD
rs1387838107	p.Arg576Lys	missense variant	-	NC_000006.12:g.150949131G>A	TOPMed
rs748644198	p.Val577Gly	missense variant	-	NC_000006.12:g.150955995T>G	ExAC,gnomAD
rs770366046	p.Asp579Gly	missense variant	-	NC_000006.12:g.150956001A>G	ExAC
rs1026989463	p.Asp582Val	missense variant	-	NC_000006.12:g.150956010A>T	TOPMed
rs755133008	p.Arg583Gln	missense variant	-	NC_000006.12:g.150956013G>A	gnomAD
rs776144453	p.Arg583Ter	stop gained	-	NC_000006.12:g.150956012C>T	ExAC,TOPMed,gnomAD
rs1450484457	p.Leu585Ile	missense variant	-	NC_000006.12:g.150956018C>A	TOPMed
rs775103323	p.Arg586Gln	missense variant	-	NC_000006.12:g.150956022G>A	ExAC,gnomAD
rs543057137	p.Arg586Ter	stop gained	-	NC_000006.12:g.150956021C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1434522148	p.Thr589Ile	missense variant	-	NC_000006.12:g.150956031C>T	gnomAD
rs113806279	p.Ile590Met	missense variant	-	NC_000006.12:g.150956035C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144324867	p.Ile590Val	missense variant	-	NC_000006.12:g.150956033A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746036989	p.Gly591Arg	missense variant	-	NC_000006.12:g.150956036G>A	ExAC,TOPMed,gnomAD
rs746036989	p.Gly591Trp	missense variant	-	NC_000006.12:g.150956036G>T	ExAC,TOPMed,gnomAD
rs756248151	p.Thr595Ile	missense variant	-	NC_000006.12:g.150956049C>T	ExAC,TOPMed,gnomAD
rs1326963233	p.Arg601Pro	missense variant	-	NC_000006.12:g.150956067G>C	gnomAD
rs1344072575	p.Arg601Trp	missense variant	-	NC_000006.12:g.150956066C>T	TOPMed
rs189412854	p.Gln602Lys	missense variant	-	NC_000006.12:g.150956069C>A	1000Genomes,ESP,ExAC,gnomAD
rs189412854	p.Gln602Ter	stop gained	-	NC_000006.12:g.150956069C>T	1000Genomes,ESP,ExAC,gnomAD
rs139952525	p.Ala603Val	missense variant	-	NC_000006.12:g.150960276C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs569176356	p.Ile607Val	missense variant	-	NC_000006.12:g.150960287A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs115088610	p.Ala608Ser	missense variant	-	NC_000006.12:g.150960290G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115088610	p.Ala608Thr	missense variant	-	NC_000006.12:g.150960290G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1434110394	p.Val609Met	missense variant	-	NC_000006.12:g.150960293G>A	gnomAD
rs773310385	p.Ala610Val	missense variant	-	NC_000006.12:g.150960297C>T	ExAC,TOPMed,gnomAD
rs1296657274	p.Glu612Lys	missense variant	-	NC_000006.12:g.150960302G>A	gnomAD
rs1292451271	p.Met614Leu	missense variant	-	NC_000006.12:g.150960308A>C	TOPMed
rs202038463	p.Ala615Val	missense variant	-	NC_000006.12:g.150960312C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759525027	p.Val616Gly	missense variant	-	NC_000006.12:g.150960315T>G	ExAC,gnomAD
rs1168211625	p.Val616Met	missense variant	-	NC_000006.12:g.150960314G>A	TOPMed
rs143492706	p.Thr620Met	missense variant	-	NC_000006.12:g.150960327C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201748605	p.Thr620Ala	missense variant	-	NC_000006.12:g.150960326A>G	1000Genomes,ExAC
rs1378030654	p.Asp621Glu	missense variant	-	NC_000006.12:g.150960331C>G	TOPMed
rs1311725284	p.Ser622Arg	missense variant	-	NC_000006.12:g.150960334C>G	TOPMed,gnomAD
rs1218331603	p.Ala624Thr	missense variant	-	NC_000006.12:g.150960338G>A	TOPMed,gnomAD
rs1284010100	p.Met626Val	missense variant	-	NC_000006.12:g.150960344A>G	gnomAD
rs752073749	p.Met626Thr	missense variant	-	NC_000006.12:g.150960345T>C	ExAC,gnomAD
rs150969919	p.Ala628Ser	missense variant	-	NC_000006.12:g.150960350G>T	ESP,ExAC,gnomAD
rs1458346270	p.Arg629Trp	missense variant	-	NC_000006.12:g.150960353C>T	TOPMed
rs781662230	p.Arg629Gln	missense variant	-	NC_000006.12:g.150960354G>A	ExAC,gnomAD
rs1472077823	p.Gly631Glu	missense variant	-	NC_000006.12:g.150960360G>A	gnomAD
rs778664096	p.Val634Met	missense variant	-	NC_000006.12:g.150960368G>A	ExAC,gnomAD
rs778664096	p.Val634Leu	missense variant	-	NC_000006.12:g.150960368G>C	ExAC,gnomAD
rs1441857587	p.Val635Met	missense variant	-	NC_000006.12:g.150960371G>A	gnomAD
rs913216296	p.Ala636Ser	missense variant	-	NC_000006.12:g.150960374G>T	gnomAD
rs747712723	p.Ser640Asn	missense variant	-	NC_000006.12:g.150960387G>A	ExAC,gnomAD
rs555776192	p.Gly641Trp	missense variant	-	NC_000006.12:g.150960389G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771054163	p.Gly641Ala	missense variant	-	NC_000006.12:g.150960390G>C	ExAC,TOPMed,gnomAD
rs555776192	p.Gly641Arg	missense variant	-	NC_000006.12:g.150960389G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1377555288	p.Val644Met	missense variant	-	NC_000006.12:g.150960398G>A	gnomAD
rs1302017213	p.Thr645Ala	missense variant	-	NC_000006.12:g.150960401A>G	TOPMed
rs370251078	p.Asp647Gly	missense variant	-	NC_000006.12:g.150960408A>G	ESP,ExAC,TOPMed,gnomAD
rs993704731	p.Val651Leu	missense variant	-	NC_000006.12:g.150964972G>T	TOPMed
rs905212993	p.Thr652Ala	missense variant	-	NC_000006.12:g.150964975A>G	gnomAD
rs1322391609	p.Gly653Val	missense variant	-	NC_000006.12:g.150964979G>T	TOPMed
rs1477833805	p.Ala654Val	missense variant	-	NC_000006.12:g.150964982C>T	gnomAD
rs1428575276	p.Ala654Ser	missense variant	-	NC_000006.12:g.150964981G>T	TOPMed
rs1467098753	p.Leu658Phe	missense variant	-	NC_000006.12:g.150964995G>C	gnomAD
rs1168517682	p.Met659Val	missense variant	-	NC_000006.12:g.150964996A>G	gnomAD
rs762203674	p.Lys660Asn	missense variant	-	NC_000006.12:g.150965001A>T	ExAC,gnomAD
rs1002236056	p.Asp661Gly	missense variant	-	NC_000006.12:g.150965003A>G	TOPMed
rs1405680198	p.Asp661His	missense variant	-	NC_000006.12:g.150965002G>C	TOPMed,gnomAD
rs1405680198	p.Asp661Asn	missense variant	-	NC_000006.12:g.150965002G>A	TOPMed,gnomAD
rs767730985	p.Ile663Met	missense variant	-	NC_000006.12:g.150965010A>G	ExAC,gnomAD
rs750960396	p.Pro665Arg	missense variant	-	NC_000006.12:g.150965015C>G	ExAC,gnomAD
rs970957706	p.Met668Arg	missense variant	-	NC_000006.12:g.150965024T>G	TOPMed
rs1480289503	p.Gly673Val	missense variant	-	NC_000006.12:g.150971948G>T	TOPMed
rs1247673239	p.Pro675Ala	missense variant	-	NC_000006.12:g.150971953C>G	TOPMed,gnomAD
rs1247673239	p.Pro675Thr	missense variant	-	NC_000006.12:g.150971953C>A	TOPMed,gnomAD
rs761093504	p.Phe677Val	missense variant	-	NC_000006.12:g.150971959T>G	ExAC,TOPMed,gnomAD
rs754369611	p.Val678Met	missense variant	-	NC_000006.12:g.150971962G>A	ExAC,gnomAD
rs762586178	p.His679Gln	missense variant	-	NC_000006.12:g.150971967T>A	ExAC,TOPMed,gnomAD
rs1248058098	p.Ala680Thr	missense variant	-	NC_000006.12:g.150971968G>A	gnomAD
rs201334541	p.Ala680Val	missense variant	-	NC_000006.12:g.150971969C>T	ExAC,TOPMed,gnomAD
rs756792803	p.Phe683Ser	missense variant	-	NC_000006.12:g.150971978T>C	ExAC,gnomAD
rs780895264	p.Ile686Val	missense variant	-	NC_000006.12:g.150971986A>G	ExAC,gnomAD
rs531256858	p.His688Gln	missense variant	-	NC_000006.12:g.150971994C>A	1000Genomes,ExAC,gnomAD
rs1418077230	p.Gly689Arg	missense variant	-	NC_000006.12:g.150971995G>C	gnomAD
rs906264238	p.Asn690Ser	missense variant	-	NC_000006.12:g.150971999A>G	TOPMed
rs1381721937	p.Val693Glu	missense variant	-	NC_000006.12:g.150972008T>A	gnomAD
rs779893572	p.Val693Met	missense variant	-	NC_000006.12:g.150972007G>A	ExAC,gnomAD
rs779893572	p.Val693Leu	missense variant	-	NC_000006.12:g.150972007G>C	ExAC,gnomAD
rs200743393	p.Ile698Val	missense variant	-	NC_000006.12:g.150972022A>G	1000Genomes
rs1372594604	p.Ala699Val	missense variant	-	NC_000006.12:g.150972026C>T	TOPMed
rs778902192	p.Leu700Val	missense variant	-	NC_000006.12:g.150972028C>G	ExAC,gnomAD
rs150253908	p.Val703Phe	missense variant	-	NC_000006.12:g.150972037G>T	ESP,ExAC,TOPMed,gnomAD
rs150253908	p.Val703Ile	missense variant	-	NC_000006.12:g.150972037G>A	ESP,ExAC,TOPMed,gnomAD
rs1199249309	p.Glu712Lys	missense variant	-	NC_000006.12:g.151009824G>A	gnomAD
rs767011130	p.Ala713Thr	missense variant	-	NC_000006.12:g.151009827G>A	ExAC,TOPMed,gnomAD
rs1456329428	p.Gly714Asp	missense variant	-	NC_000006.12:g.151009831G>A	gnomAD
rs772760994	p.Gly716Ser	missense variant	-	NC_000006.12:g.151009836G>A	ExAC,gnomAD
rs1289938222	p.Ala717Val	missense variant	-	NC_000006.12:g.151009840C>T	TOPMed
rs753696678	p.Gly720Arg	missense variant	-	NC_000006.12:g.151009848G>A	ExAC,TOPMed,gnomAD
rs754750815	p.Met721Thr	missense variant	-	NC_000006.12:g.151009852T>C	ExAC,gnomAD
rs765202916	p.Glu722Val	missense variant	-	NC_000006.12:g.151009855A>T	ExAC,gnomAD
rs1228953071	p.Phe725Val	missense variant	-	NC_000006.12:g.151009863T>G	TOPMed
rs1398739584	p.Ile727Leu	missense variant	-	NC_000006.12:g.151009869A>C	gnomAD
rs570312042	p.Arg730Gln	missense variant	-	NC_000006.12:g.151009879G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1367076381	p.Arg730Ter	stop gained	-	NC_000006.12:g.151009878C>T	TOPMed
rs539434475	p.Gly733Arg	missense variant	-	NC_000006.12:g.151009887G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs539434475	p.Gly733Ser	missense variant	-	NC_000006.12:g.151009887G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1282705649	p.Leu734Phe	missense variant	-	NC_000006.12:g.151009892G>C	gnomAD
rs770250806	p.Val735Ala	missense variant	-	NC_000006.12:g.151009894T>C	ExAC,TOPMed,gnomAD
rs776170186	p.Pro736Ala	missense variant	-	NC_000006.12:g.151009896C>G	ExAC,gnomAD
rs202154575	p.Asn737Ile	missense variant	-	NC_000006.12:g.151009900A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202154575	p.Asn737Thr	missense variant	-	NC_000006.12:g.151009900A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771494677	p.Asn737Lys	missense variant	-	NC_000006.12:g.151009901C>A	ExAC,TOPMed,gnomAD
rs202154575	p.Asn737Ser	missense variant	-	NC_000006.12:g.151009900A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs779539979	p.Val738Met	missense variant	-	NC_000006.12:g.151009902G>A	TOPMed,gnomAD
rs772708574	p.Val740Met	missense variant	-	NC_000006.12:g.151009908G>A	ExAC,gnomAD
rs377268290	p.Val742Ala	missense variant	-	NC_000006.12:g.151009915T>C	ESP,TOPMed
rs566588384	p.Arg746Gln	missense variant	-	NC_000006.12:g.151009927G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1477822591	p.Arg746Ter	stop gained	-	NC_000006.12:g.151009926C>T	TOPMed,gnomAD
rs1294497987	p.Lys749Arg	missense variant	-	NC_000006.12:g.151009936A>G	gnomAD
rs1205398128	p.Met750Ile	missense variant	-	NC_000006.12:g.151009940G>A	TOPMed
rs1309080136	p.His751Leu	missense variant	-	NC_000006.12:g.151009942A>T	TOPMed
rs1309080136	p.His751Arg	missense variant	-	NC_000006.12:g.151009942A>G	TOPMed
rs1165895739	p.Gly754Val	missense variant	-	NC_000006.12:g.151009951G>T	gnomAD
rs139267961	p.Gly754Arg	missense variant	-	NC_000006.12:g.151009950G>A	ESP,ExAC,TOPMed,gnomAD
rs1165895739	p.Gly754Glu	missense variant	-	NC_000006.12:g.151009951G>A	gnomAD
rs1456574450	p.Ser756Asn	missense variant	-	NC_000006.12:g.151009957G>A	gnomAD
rs536470352	p.Thr758Met	missense variant	-	NC_000006.12:g.151013783C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1418573534	p.Thr758Ala	missense variant	-	NC_000006.12:g.151013782A>G	gnomAD
rs1353930821	p.Gly760Asp	missense variant	-	NC_000006.12:g.151013789G>A	gnomAD
rs1168077699	p.Val761Phe	missense variant	-	NC_000006.12:g.151013791G>T	gnomAD
rs759135016	p.Val761Gly	missense variant	-	NC_000006.12:g.151013792T>G	ExAC,gnomAD
rs1384860015	p.Pro762Leu	missense variant	-	NC_000006.12:g.151013795C>T	TOPMed
rs769585298	p.Pro762Ser	missense variant	-	NC_000006.12:g.151013794C>T	ExAC
rs769585298	p.Pro762Thr	missense variant	-	NC_000006.12:g.151013794C>A	ExAC
rs1163405897	p.Leu763Phe	missense variant	-	NC_000006.12:g.151013797C>T	TOPMed
rs556473256	p.Leu763Pro	missense variant	-	NC_000006.12:g.151013798T>C	1000Genomes,ExAC,gnomAD
rs751421713	p.Lys764Arg	missense variant	-	NC_000006.12:g.151013801A>G	ExAC,gnomAD
rs764144149	p.Lys764Ter	stop gained	-	NC_000006.12:g.151013800A>T	ExAC,gnomAD
rs1183328117	p.Tyr767His	missense variant	-	NC_000006.12:g.151013809T>C	gnomAD
rs762014300	p.Tyr767Cys	missense variant	-	NC_000006.12:g.151013810A>G	ExAC,gnomAD
rs750687544	p.Thr768Ala	missense variant	-	NC_000006.12:g.151013812A>G	ExAC,gnomAD
rs756336497	p.Glu770Ala	missense variant	-	NC_000006.12:g.151013819A>C	ExAC,gnomAD
rs1470045540	p.Asn771Asp	missense variant	-	NC_000006.12:g.151014880A>G	TOPMed
rs779788799	p.Ala776Thr	missense variant	-	NC_000006.12:g.151014895G>A	ExAC,gnomAD
rs748841435	p.Asp777Tyr	missense variant	-	NC_000006.12:g.151014898G>T	ExAC,gnomAD
rs1272436583	p.Gly778Ser	missense variant	-	NC_000006.12:g.151014901G>A	TOPMed
rs774222537	p.Cys780Ser	missense variant	-	NC_000006.12:g.151014907T>A	ExAC,gnomAD
rs1266864608	p.Cys780Tyr	missense variant	-	NC_000006.12:g.151014908G>A	gnomAD
rs1480114230	p.Asn781Asp	missense variant	-	NC_000006.12:g.151014910A>G	TOPMed,gnomAD
rs1252763401	p.Gln783His	missense variant	-	NC_000006.12:g.151014918G>T	gnomAD
rs1424193842	p.Gln783Arg	missense variant	-	NC_000006.12:g.151014917A>G	gnomAD
rs1478781661	p.Lys784Arg	missense variant	-	NC_000006.12:g.151014920A>G	gnomAD
rs921801253	p.Ile786Asn	missense variant	-	NC_000006.12:g.151014926T>A	TOPMed
rs1442432240	p.Gln787Glu	missense variant	-	NC_000006.12:g.151014928C>G	TOPMed
rs1405588960	p.Thr789Ala	missense variant	-	NC_000006.12:g.151014934A>G	gnomAD
rs1410352107	p.Leu791His	missense variant	-	NC_000006.12:g.151014941T>A	TOPMed
rs1363341710	p.Phe792Leu	missense variant	-	NC_000006.12:g.151014943T>C	gnomAD
rs766327267	p.Phe792Ser	missense variant	-	NC_000006.12:g.151014944T>C	ExAC,gnomAD
rs776928312	p.Gly793Ala	missense variant	-	NC_000006.12:g.151014947G>C	ExAC,gnomAD
rs759612920	p.Val794Ile	missense variant	-	NC_000006.12:g.151014949G>A	ExAC,TOPMed
rs765496279	p.Pro795Ser	missense variant	-	NC_000006.12:g.151014952C>T	ExAC,TOPMed,gnomAD
rs764625841	p.Val796Phe	missense variant	-	NC_000006.12:g.151014955G>T	ExAC,TOPMed,gnomAD
rs752022496	p.Val796Ala	missense variant	-	NC_000006.12:g.151014956T>C	ExAC,TOPMed,gnomAD
rs764625841	p.Val796Ile	missense variant	-	NC_000006.12:g.151014955G>A	ExAC,TOPMed,gnomAD
rs1289793814	p.Val797Met	missense variant	-	NC_000006.12:g.151014958G>A	TOPMed,gnomAD
rs1289793814	p.Val797Leu	missense variant	-	NC_000006.12:g.151014958G>T	TOPMed,gnomAD
rs374447294	p.Ala799Pro	missense variant	-	NC_000006.12:g.151014964G>C	ESP,ExAC,TOPMed,gnomAD
rs374447294	p.Ala799Thr	missense variant	-	NC_000006.12:g.151014964G>A	ESP,ExAC,TOPMed,gnomAD
rs374447294	p.Ala799Ser	missense variant	-	NC_000006.12:g.151014964G>T	ESP,ExAC,TOPMed,gnomAD
rs1184670444	p.Ala799Val	missense variant	-	NC_000006.12:g.151014965C>T	TOPMed,gnomAD
rs147116663	p.Leu800Pro	missense variant	-	NC_000006.12:g.151014968T>C	ESP,ExAC,TOPMed,gnomAD
rs748973240	p.Lys804Gln	missense variant	-	NC_000006.12:g.151014979A>C	ExAC,TOPMed,gnomAD
rs1372434560	p.Lys804Arg	missense variant	-	NC_000006.12:g.151014980A>G	gnomAD
rs191699496	p.Asp806Asn	missense variant	-	NC_000006.12:g.151015520G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1435954444	p.Asp806Gly	missense variant	-	NC_000006.12:g.151015521A>G	TOPMed
rs753346040	p.Arg808Cys	missense variant	-	NC_000006.12:g.151015526C>T	ExAC,gnomAD
rs200271701	p.Arg808His	missense variant	-	NC_000006.12:g.151015527G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1403489543	p.Ala809Thr	missense variant	-	NC_000006.12:g.151015529G>A	TOPMed,gnomAD
rs1403489543	p.Ala809Ser	missense variant	-	NC_000006.12:g.151015529G>T	TOPMed,gnomAD
rs752354150	p.Ile811Thr	missense variant	-	NC_000006.12:g.151015536T>C	ExAC,gnomAD
rs758287809	p.Ile811Met	missense variant	-	NC_000006.12:g.151015537T>G	ExAC,TOPMed,gnomAD
rs746818919	p.Val814Met	missense variant	-	NC_000006.12:g.151015544G>A	ExAC,gnomAD
rs1334223917	p.Cys815Tyr	missense variant	-	NC_000006.12:g.151015548G>A	gnomAD
rs770836139	p.Ala818Thr	missense variant	-	NC_000006.12:g.151015556G>A	ExAC,gnomAD
rs770836139	p.Ala818Pro	missense variant	-	NC_000006.12:g.151015556G>C	ExAC,gnomAD
rs552389460	p.Arg820Gln	missense variant	-	NC_000006.12:g.151015563G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs893395870	p.Arg820Trp	missense variant	-	NC_000006.12:g.151015562C>T	TOPMed,gnomAD
rs1460657050	p.Ala821Gly	missense variant	-	NC_000006.12:g.151015566C>G	gnomAD
rs1179041034	p.Gly822Ser	missense variant	-	NC_000006.12:g.151015568G>A	gnomAD
rs1010946073	p.Ala826Thr	missense variant	-	NC_000006.12:g.151015580G>A	TOPMed,gnomAD
rs61753800	p.Val827Gly	missense variant	-	NC_000006.12:g.151015584T>G	ExAC,TOPMed,gnomAD
rs138287224	p.Pro828Arg	missense variant	-	NC_000006.12:g.151015587C>G	ESP,ExAC,TOPMed,gnomAD
rs1471236248	p.Cys829Tyr	missense variant	-	NC_000006.12:g.151015590G>A	gnomAD
rs1198819089	p.Tyr830Ter	stop gained	-	NC_000006.12:g.151015594T>A	TOPMed
rs1466422065	p.Val834Gly	missense variant	-	NC_000006.12:g.151015605T>G	gnomAD
rs750907361	p.Val834Ile	missense variant	-	NC_000006.12:g.151015604G>A	ExAC,gnomAD
rs759144791	p.Gly836Arg	missense variant	-	NC_000006.12:g.151015610G>A	ExAC,gnomAD
rs372067558	p.Ser839Leu	missense variant	-	NC_000006.12:g.151015620C>T	ESP,ExAC,TOPMed,gnomAD
rs372067558	p.Ser839Trp	missense variant	-	NC_000006.12:g.151015620C>G	ESP,ExAC,TOPMed,gnomAD
rs931206949	p.Asp841Gly	missense variant	-	NC_000006.12:g.151015626A>G	gnomAD
rs777557719	p.Arg844Gln	missense variant	-	NC_000006.12:g.151015635G>A	ExAC,TOPMed,gnomAD
rs758193909	p.Arg844Trp	missense variant	-	NC_000006.12:g.151015634C>T	ExAC,gnomAD
rs777557719	p.Arg844Pro	missense variant	-	NC_000006.12:g.151015635G>C	ExAC,TOPMed,gnomAD
rs757045245	p.Ala845Ser	missense variant	-	NC_000006.12:g.151015637G>T	ExAC,gnomAD
rs199745523	p.Val846Leu	missense variant	-	NC_000006.12:g.151015640G>C	1000Genomes,ExAC,gnomAD
rs1332719481	p.Val846Ala	missense variant	-	NC_000006.12:g.151015641T>C	TOPMed
rs769877395	p.Arg847Ser	missense variant	-	NC_000006.12:g.151015645A>C	ExAC,gnomAD
rs745770392	p.Arg847Lys	missense variant	-	NC_000006.12:g.151015644G>A	ExAC,TOPMed,gnomAD
rs780039204	p.Ala849Ser	missense variant	-	NC_000006.12:g.151015649G>T	ExAC,TOPMed
rs35829704	p.Ala850Glu	missense variant	-	NC_000006.12:g.151015653C>A	ExAC,TOPMed,gnomAD
rs35829704	p.Ala850Val	missense variant	-	NC_000006.12:g.151015653C>T	ExAC,TOPMed,gnomAD
rs1410727354	p.Ala850Ser	missense variant	-	NC_000006.12:g.151015652G>T	TOPMed
rs772439169	p.Arg853Lys	missense variant	-	NC_000006.12:g.151015662G>A	ExAC,gnomAD
rs1213012245	p.Ser854Asn	missense variant	-	NC_000006.12:g.151015665G>A	gnomAD
rs1481095048	p.Ser854Gly	missense variant	-	NC_000006.12:g.151015664A>G	gnomAD
rs773611189	p.Arg855Gln	missense variant	-	NC_000006.12:g.151015668G>A	ExAC,TOPMed,gnomAD
rs1210671338	p.Gln857Ter	stop gained	-	NC_000006.12:g.151015673C>T	TOPMed
rs144276735	p.Asp861Asn	missense variant	-	NC_000006.12:g.151015685G>A	ESP,TOPMed,gnomAD
rs766991962	p.Val862Ala	missense variant	-	NC_000006.12:g.151015689T>C	ExAC,TOPMed,gnomAD
rs1486114068	p.Gln863Arg	missense variant	-	NC_000006.12:g.151015692A>G	gnomAD
rs753735204	p.Val864Phe	missense variant	-	NC_000006.12:g.151034493G>T	ExAC,TOPMed,gnomAD
rs753735204	p.Val864Leu	missense variant	-	NC_000006.12:g.151034493G>C	ExAC,TOPMed,gnomAD
rs373771820	p.Ile866Val	missense variant	-	NC_000006.12:g.151034499A>G	ESP,ExAC,TOPMed,gnomAD
rs1175531623	p.Ile866Thr	missense variant	-	NC_000006.12:g.151034500T>C	gnomAD
rs377065684	p.Val867Ala	missense variant	-	NC_000006.12:g.151034503T>C	ESP,ExAC,TOPMed,gnomAD
rs148480818	p.Asp868Gly	missense variant	-	NC_000006.12:g.151034506A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs148480818	p.Asp868Val	missense variant	-	NC_000006.12:g.151034506A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148753409	p.Ile870Met	missense variant	-	NC_000006.12:g.151034513A>G	ESP,ExAC,TOPMed,gnomAD
rs576524414	p.Arg871Thr	missense variant	-	NC_000006.12:g.151034515G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs576524414	p.Arg871Lys	missense variant	-	NC_000006.12:g.151034515G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1424680139	p.Ile873Thr	missense variant	-	NC_000006.12:g.151034521T>C	TOPMed
rs142733823	p.Ala874Val	missense variant	-	NC_000006.12:g.151034524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746321906	p.Gln875Arg	missense variant	-	NC_000006.12:g.151034527A>G	ExAC,gnomAD
rs768058629	p.Ala876Val	missense variant	-	NC_000006.12:g.151034530C>T	ExAC,gnomAD
rs1223599270	p.Ala876Thr	missense variant	-	NC_000006.12:g.151034529G>A	gnomAD
rs773979807	p.Val877Ile	missense variant	-	NC_000006.12:g.151034532G>A	ExAC,gnomAD
rs761212799	p.Tyr878Asn	missense variant	-	NC_000006.12:g.151034535T>A	ExAC,gnomAD
rs1274207448	p.Ala880Thr	missense variant	-	NC_000006.12:g.151034541G>A	gnomAD
rs767245924	p.Lys881Arg	missense variant	-	NC_000006.12:g.151034545A>G	ExAC,gnomAD
rs558815478	p.Ile883Thr	missense variant	-	NC_000006.12:g.151034551T>C	1000Genomes,ExAC,gnomAD
rs942818423	p.Ile883Phe	missense variant	-	NC_000006.12:g.151034550A>T	TOPMed,gnomAD
rs942818423	p.Ile883Val	missense variant	-	NC_000006.12:g.151034550A>G	TOPMed,gnomAD
rs1038824021	p.Glu884Gln	missense variant	-	NC_000006.12:g.151034553G>C	TOPMed
rs760490125	p.Leu885Val	missense variant	-	NC_000006.12:g.151034556C>G	ExAC,gnomAD
rs753786210	p.Ser886Cys	missense variant	-	NC_000006.12:g.151034560C>G	ExAC,TOPMed,gnomAD
rs753786210	p.Ser886Phe	missense variant	-	NC_000006.12:g.151034560C>T	ExAC,TOPMed,gnomAD
rs765079079	p.Pro887Arg	missense variant	-	NC_000006.12:g.151034563C>G	ExAC,gnomAD
rs752872364	p.Ala891Val	missense variant	-	NC_000006.12:g.151034575C>T	ExAC,gnomAD
rs752872364	p.Ala891Gly	missense variant	-	NC_000006.12:g.151034575C>G	ExAC,gnomAD
rs778171987	p.Asp894Tyr	missense variant	-	NC_000006.12:g.151034583G>T	ExAC,gnomAD
rs778171987	p.Asp894His	missense variant	-	NC_000006.12:g.151034583G>C	ExAC,gnomAD
rs377525704	p.Arg895Ser	missense variant	-	NC_000006.12:g.151034586C>A	ESP,ExAC,TOPMed,gnomAD
rs781637834	p.Arg895His	missense variant	-	NC_000006.12:g.151034587G>A	ExAC,TOPMed,gnomAD
rs377525704	p.Arg895Cys	missense variant	-	NC_000006.12:g.151034586C>T	ESP,ExAC,TOPMed,gnomAD
rs377525704	p.Arg895Gly	missense variant	-	NC_000006.12:g.151034586C>G	ESP,ExAC,TOPMed,gnomAD
rs770387415	p.Tyr896Cys	missense variant	-	NC_000006.12:g.151034590A>G	ExAC,gnomAD
rs780400186	p.Thr897Ala	missense variant	-	NC_000006.12:g.151034592A>G	ExAC,TOPMed,gnomAD
rs1408148784	p.Thr897Asn	missense variant	-	NC_000006.12:g.151034593C>A	TOPMed
rs1341826665	p.Gln899Ter	stop gained	-	NC_000006.12:g.151034598C>T	gnomAD
rs1383018034	p.Gly900Asp	missense variant	-	NC_000006.12:g.151036966G>A	gnomAD
rs1456921376	p.Gly902Arg	missense variant	-	NC_000006.12:g.151036971G>A	gnomAD
rs1299161508	p.Ile906Val	missense variant	-	NC_000006.12:g.151036983A>G	TOPMed
rs770625572	p.His912Asp	missense variant	-	NC_000006.12:g.151037001C>G	ExAC,gnomAD
rs1423897415	p.Lys921Thr	missense variant	-	NC_000006.12:g.151037029A>C	TOPMed
rs1239813978	p.Gly923Ser	missense variant	-	NC_000006.12:g.151037034G>A	gnomAD
rs143439211	p.Asp927Glu	missense variant	-	NC_000006.12:g.151037048C>G	ESP,ExAC,TOPMed,gnomAD
rs1203386601	p.Asp927Tyr	missense variant	-	NC_000006.12:g.151037046G>T	gnomAD
rs948017845	p.Ile929Val	missense variant	-	NC_000006.12:g.151037052A>G	TOPMed
rs191040014	p.Pro931Thr	missense variant	-	NC_000006.12:g.151037058C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368758631	p.Ser933Ile	missense variant	-	NC_000006.12:g.151037065G>T	ESP,ExAC,TOPMed,gnomAD
rs368758631	p.Ser933Asn	missense variant	-	NC_000006.12:g.151037065G>A	ESP,ExAC,TOPMed,gnomAD
rs772567872	p.Asp934Glu	missense variant	-	NC_000006.12:g.151037069C>G	ExAC,TOPMed,gnomAD
rs1181872885	p.Val935Ile	missense variant	-	NC_000006.12:g.151037070G>A	TOPMed,gnomAD
rs139088932	p.Arg936Gln	missense variant	-	NC_000006.12:g.151037074G>A	ESP,ExAC,TOPMed,gnomAD
rs552580428	p.Arg936Trp	missense variant	-	NC_000006.12:g.151037073C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775719972	p.Ala937Asp	missense variant	-	NC_000006.12:g.151037077C>A	ExAC,gnomAD
rs775719972	p.Ala937Val	missense variant	-	NC_000006.12:g.151037077C>T	ExAC,gnomAD
rs1355022982	p.Ser938Gly	missense variant	-	NC_000006.12:g.151037079A>G	TOPMed
rs115732448	p.Ile939Thr	missense variant	-	NC_000006.12:g.151037083T>C	ExAC,gnomAD
rs1471132929	p.Ile939Val	missense variant	-	NC_000006.12:g.151037082A>G	gnomAD
rs114123717	p.Gly940Asp	missense variant	-	NC_000006.12:g.151037086G>A	ExAC,gnomAD
rs142116222	p.Ala941Thr	missense variant	-	NC_000006.12:g.151037088G>A	ESP,ExAC,TOPMed,gnomAD
rs142116222	p.Ala941Ser	missense variant	-	NC_000006.12:g.151037088G>T	ESP,ExAC,TOPMed,gnomAD
rs768766295	p.Leu947Ser	missense variant	-	NC_000006.12:g.151037107T>C	ExAC,gnomAD
rs775218945	p.Leu947Met	missense variant	-	NC_000006.12:g.151037106T>A	ExAC,TOPMed,gnomAD
rs760351758	p.Gly949Arg	missense variant	-	NC_000006.12:g.151037112G>A	ExAC,TOPMed,gnomAD
rs766004107	p.Thr950Lys	missense variant	-	NC_000006.12:g.151037116C>A	ExAC,TOPMed,gnomAD
rs766004107	p.Thr950Met	missense variant	-	NC_000006.12:g.151037116C>T	ExAC,TOPMed,gnomAD
rs758180303	p.Met951Ile	missense variant	-	NC_000006.12:g.151092469G>A	ExAC,TOPMed,gnomAD
rs777595295	p.Thr953Asn	missense variant	-	NC_000006.12:g.151092474C>A	ExAC,gnomAD
rs1440901502	p.Gly956Arg	missense variant	-	NC_000006.12:g.151092482G>A	gnomAD
rs773244330	p.Leu957Met	missense variant	-	NC_000006.12:g.151092485C>A	ExAC,TOPMed,gnomAD
rs1244146873	p.Thr959Ile	missense variant	-	NC_000006.12:g.151092492C>T	gnomAD
rs1233674190	p.Arg960Gly	missense variant	-	NC_000006.12:g.151092494C>G	gnomAD
rs1367181116	p.Pro961His	missense variant	-	NC_000006.12:g.151092498C>A	TOPMed
rs1380757070	p.Cys962Tyr	missense variant	-	NC_000006.12:g.151092501G>A	TOPMed
rs745938830	p.Tyr964Phe	missense variant	-	NC_000006.12:g.151092507A>T	ExAC
rs375263198	p.Asp965Glu	missense variant	-	NC_000006.12:g.151092511C>G	ESP,ExAC,TOPMed,gnomAD
rs775661644	p.Ile966Thr	missense variant	-	NC_000006.12:g.151092513T>C	ExAC,TOPMed,gnomAD
rs1294227682	p.Ile966Val	missense variant	-	NC_000006.12:g.151092512A>G	TOPMed
rs1364225813	p.Asp967Glu	missense variant	-	NC_000006.12:g.151092517T>A	TOPMed
rs1409615714	p.Leu968Ile	missense variant	-	NC_000006.12:g.151092518C>A	gnomAD
rs200722924	p.Asp969Asn	missense variant	-	NC_000006.12:g.151092521G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200722924	p.Asp969His	missense variant	-	NC_000006.12:g.151092521G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs774732029	p.Glu971Lys	missense variant	-	NC_000006.12:g.151092527G>A	ExAC,gnomAD
rs762309552	p.Gln974Ter	stop gained	-	NC_000006.12:g.151092536C>T	ExAC,gnomAD
rs768130949	p.Val975Leu	missense variant	-	NC_000006.12:g.151092539G>C	ExAC,TOPMed,gnomAD
rs1382707860	p.Val975Ala	missense variant	-	NC_000006.12:g.151092540T>C	gnomAD
rs776338297	p.Gly977Ala	missense variant	-	NC_000006.12:g.151092546G>C	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE;GWASCAT;GWASDB
C0002888	Anemia, Megaloblastic	disease	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE;GWASCAT;GWASDB
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0013080	Down Syndrome	disease	LHGDN
C0027051	Myocardial Infarction	disease	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0085110	Severe Combined Immunodeficiency	disease	BEFREE
C0154575	Rumination Disorders	group	BEFREE
C0220810	Congenital defects	group	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0948089	Acute Coronary Syndrome	disease	BEFREE
C1527249	Colorectal Cancer	disease	UNIPROT
C1704436	Peripheral Arterial Diseases	group	GWASCAT
C1845026	Neural tube defects X-linked	disease	MGD
C1845027	Spina Bifida, X-Linked	disease	MGD
C1866558	Neural tube defect, folate-sensitive	disease	MGD
C1866559	Spina Bifida, Folate-Sensitive	disease	MGD
C1956346	Coronary Artery Disease	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-196757	Metabolism of folate and pterines	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MTHFD1L mRNA	29432896
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of MTHFD1L mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of MTHFD1L mRNA	24810058
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of MTHFD1L mRNA	30723492
C032668	1-nitropyrene	1-nitropyrene results in increased expression of MTHFD1L mRNA	19041380
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in decreased expression of MTHFD1L mRNA	20453058
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether analog results in increased expression of MTHFD1L mRNA	19095052
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1L mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1L mRNA	27188386
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 MTHFD1L mRNA	19150397; 26238291;
D000082	Acetaminophen	Acetaminophen results in decreased expression of MTHFD1L mRNA	21420995; 25704631;
D000082	Acetaminophen	Acetaminophen results in increased expression of MTHFD1L mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of MTHFD1L mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MTHFD1L intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of MTHFD1L mRNA	19770486
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MTHFD1L mRNA	23630614
C029753	aflatoxin B2	aflatoxin B2 affects the methylation of MTHFD1L intron	30157460
D000661	Amphetamine	Amphetamine results in decreased expression of MTHFD1L mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of MTHFD1L mRNA	24449571
D001104	Arbutin	Arbutin results in decreased expression of MTHFD1L mRNA	17103032
D001151	Arsenic	Arsenic affects the methylation of MTHFD1L gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of MTHFD1L mRNA	22521957
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of MTHFD1L mRNA	26377693
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of MTHFD1L mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of MTHFD1L intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MTHFD1L mRNA	20064835
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of MTHFD1L mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MTHFD1L mRNA	19770486; 21715664;
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of MTHFD1L mRNA	27858113
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of MTHFD1L mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of MTHFD1L intron	30157460
D001622	Betaine	Betaine inhibits the reaction [Copper deficiency affects the expression of MTHFD1L protein]	25150618
D001622	Betaine	Betaine results in decreased expression of MTHFD1L mRNA	26391144
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of MTHFD1L mRNA	30265984
C006780	bisphenol A	bisphenol A results in increased expression of MTHFD1L mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of MTHFD1L exon	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of MTHFD1L promoter	30906313
C006780	bisphenol A	bisphenol A affects the expression of MTHFD1L mRNA	30903817
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of MTHFD1L mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of MTHFD1L mRNA	30245210
C006780	bisphenol A	[bisphenol A co-treated with Testosterone] results in decreased expression of MTHFD1L mRNA	26496021
C000611646	bisphenol F	bisphenol F results in decreased expression of MTHFD1L mRNA	30265984
C038091	butylparaben	butylparaben results in decreased expression of MTHFD1L mRNA	29458080
C018475	butyraldehyde	butyraldehyde results in decreased expression of MTHFD1L mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of MTHFD1L mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MTHFD1L mRNA	31150632
D002509	Cephaloridine	Cephaloridine results in increased expression of MTHFD1L mRNA	18500788
D002737	Chloroprene	Chloroprene results in increased expression of MTHFD1L mRNA	23125180
D002794	Choline	[Dietary Fats co-treated with Choline deficiency] results in increased expression of MTHFD1L mRNA	29246445
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of MTHFD1L mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of MTHFD1L gene	20938992
D002794	Choline	PANX1 gene mutant form inhibits the reaction [[Dietary Fats co-treated with Choline deficiency] results in increased expression of MTHFD1L mRNA]	29246445
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of MTHFD1L mRNA	27858113
D002945	Cisplatin	Cisplatin affects the expression of MTHFD1L mRNA	23300844
D002945	Cisplatin	Cisplatin results in decreased expression of MTHFD1L mRNA	19561079; 27594783;
D002945	Cisplatin	Cisplatin results in decreased expression of MTHFD1L mRNA	22023808
D003033	Coal Tar	Coal Tar results in decreased expression of MTHFD1L mRNA	27858113
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MTHFD1L mRNA	19320972
D003300	Copper	Betaine inhibits the reaction [Copper deficiency affects the expression of MTHFD1L protein]	25150618
D003300	Copper	Copper deficiency affects the expression of MTHFD1L protein	25150618
D019327	Copper Sulfate	Copper Sulfate results in increased expression of MTHFD1L mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of MTHFD1L mRNA	20106945; 25562108; 27989131;
D000077209	Decitabine	Decitabine affects the expression of MTHFD1L mRNA	23300844
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of MTHFD1L mRNA]	27941970
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of MTHFD1L mRNA	28628672
D004041	Dietary Fats	[Dietary Fats co-treated with Choline deficiency] results in increased expression of MTHFD1L mRNA	29246445
D004041	Dietary Fats	Dietary Fats results in increased expression of MTHFD1L mRNA	30120929
D004041	Dietary Fats	PANX1 gene mutant form inhibits the reaction [[Dietary Fats co-treated with Choline deficiency] results in increased expression of MTHFD1L mRNA]	29246445
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1L mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1L mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of MTHFD1L mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of MTHFD1L mRNA	27188386
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of MTHFD1L protein	23301498
D004958	Estradiol	Estradiol affects the expression of MTHFD1L mRNA	23557687
D004958	Estradiol	EGF protein promotes the reaction [Estradiol results in increased expression of MTHFD1L mRNA]	24758408
D004958	Estradiol	Estradiol affects the expression of MTHFD1L mRNA	22574217
D004958	Estradiol	Estradiol results in increased expression of MTHFD1L mRNA	20106945; 24758408;
D000431	Ethanol	Ethanol results in increased expression of MTHFD1L mRNA	29361514
D000431	Ethanol	Ethanol affects the expression of MTHFD1L mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of MTHFD1L mRNA	29458080
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of MTHFD1L mRNA	17555576
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of MTHFD1L mRNA	23649840
D017313	Fenretinide	Fenretinide results in increased expression of MTHFD1L mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of MTHFD1L mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of MTHFD1L gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of MTHFD1L mRNA	23649840
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MTHFD1L mRNA	29432896
C492448	ICG 001	ICG 001 results in increased expression of MTHFD1L mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of MTHFD1L mRNA	28628672
D000077146	Irinotecan	Irinotecan analog results in decreased expression of MTHFD1L mRNA	18927307
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MTHFD1L mRNA	21889194; 22904298; 23430699; 24297863; 24796395; 26752646;
C410337	K 7174	K 7174 results in increased expression of MTHFD1L mRNA	24086573
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in decreased expression of MTHFD1L mRNA	24972896
D008627	Mercuric Chloride	Mercuric Chloride results in increased expression of MTHFD1L mRNA	16507785
D008701	Methapyrilene	Methapyrilene results in decreased methylation of MTHFD1L intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of MTHFD1L mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of MTHFD1L gene	20938992
D008727	Methotrexate	Methotrexate results in increased expression of MTHFD1L mRNA	24449571
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MTHFD1L mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MTHFD1L mRNA	23179753; 26272509; 28001369;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1L mRNA	27188386
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of MTHFD1L protein	26558463
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of MTHFD1L mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of MTHFD1L mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of MTHFD1L mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MTHFD1L mRNA	25620056
D009532	Nickel	Nickel results in increased expression of MTHFD1L mRNA	24768652; 25583101;
C000605331	OTX015	OTX015 results in decreased expression of MTHFD1L mRNA	27388964
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of MTHFD1L mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of MTHFD1L mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of MTHFD1L mRNA	30529165
D010100	Oxygen	Oxygen deficiency results in increased expression of MTHFD1L mRNA	20880076
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MTHFD1L mRNA	29432896
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether analog results in increased expression of MTHFD1L mRNA	19095052
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of MTHFD1L protein	26879310
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of MTHFD1L mRNA	30711707
D010656	Phenylephrine	Phenylephrine results in increased expression of MTHFD1L mRNA	18158353
D010672	Phenytoin	Phenytoin results in increased expression of MTHFD1L mRNA	20345932
C006253	pirinixic acid	pirinixic acid results in increased expression of MTHFD1L mRNA	23811191
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MTHFD1L mRNA	29432896
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of MTHFD1L protein	23718831
D011374	Progesterone	Progesterone results in increased expression of MTHFD1L mRNA	23012394
D011374	Progesterone	Progesterone results in decreased expression of MTHFD1L mRNA	19690047
C006068	propylparaben	propylparaben results in decreased expression of MTHFD1L mRNA	29458080
D000077185	Resveratrol	Resveratrol results in increased expression of MTHFD1L protein	25505154
C017947	sodium arsenite	sodium arsenite results in increased expression of MTHFD1L mRNA	29301061
D053260	Soot	Soot results in increased expression of MTHFD1L mRNA	26551751
D013629	Tamoxifen	Tamoxifen affects the expression of MTHFD1L mRNA	17555576
D013739	Testosterone	[bisphenol A co-treated with Testosterone] results in decreased expression of MTHFD1L mRNA	26496021
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MTHFD1L mRNA	20106945; 21632981;
D019284	Thapsigargin	Thapsigargin results in increased expression of MTHFD1L mRNA	22378314
D013853	Thioacetamide	Thioacetamide results in increased expression of MTHFD1L mRNA	23411599
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of MTHFD1L mRNA	28111298
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of MTHFD1L mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of MTHFD1L mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of MTHFD1L mRNA	20488242
D014241	Trichloroethylene	Trichloroethylene results in increased expression of MTHFD1L mRNA	25549359
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MTHFD1L mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of MTHFD1L mRNA	24935251; 26272509;
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of MTHFD1L mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of MTHFD1L mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in increased expression of MTHFD1L mRNA	22378314; 29453283;
D014520	Urethane	Urethane results in decreased expression of MTHFD1L mRNA	28818685
C525131	UVI 3003	UVI 3003 results in decreased expression of MTHFD1L protein	25581642
D014635	Valproic Acid	Valproic Acid affects the expression of MTHFD1L mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of MTHFD1L mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in increased methylation of MTHFD1L gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of MTHFD1L mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of MTHFD1L gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of MTHFD1L mRNA	23869203
C029297	vinylidene chloride	vinylidene chloride results in increased expression of MTHFD1L mRNA	26682919
D000077337	Vorinostat	Vorinostat results in decreased expression of MTHFD1L mRNA	27188386
D015025	Zearalenone	Zearalenone results in increased expression of MTHFD1L protein	25058043

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR000559	Formate_THF_ligase
IPR020628	Formate_THF_ligase_CS
IPR036291	NAD(P)-bd_dom_sf
IPR027417	P-loop_NTPase
IPR000672	THF_DH/CycHdrlase
IPR020630	THF_DH/CycHdrlase_cat_dom
IPR020631	THF_DH/CycHdrlase_NAD-bd_dom

PROSITE

PROSITE ID	PROSITE Term
PS00721	FTHFS_1
PS00722	FTHFS_2

Pfam

Pfam ID	Pfam Term
PF01268	FTHFS
PF00763	THF_DHG_CYH
PF02882	THF_DHG_CYH_C

Gene: MTHFD1L

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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