CleftGeneDB-Search

Gene: COLGALT1

Basic information

Tag	Content
Uniprot ID	Q8NBJ5; Q8NC64;
Entrez ID	79709
Genbank protein ID	AAI08309.1; BAC11684.1; BAC11307.1; EAW84622.1;
Genbank nucleotide ID	NM_024656.3
Ensembl protein ID	ENSP00000252599
Ensembl nucleotide ID	ENSG00000130309
Gene name	Procollagen galactosyltransferase 1
Gene symbol	COLGALT1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317).
Sequence	MAAAPRAGRR RGQPLLALLL LLLAPLPPGA PPGADAYFPE ERWSPESPLQ APRVLIALLA 60 RNAAHALPTT LGALERLRHP RERTALWVAT DHNMDNTSTV LREWLVAVKS LYHSVEWRPA 120 EEPRSYPDEE GPKHWSDSRY EHVMKLRQAA LKSARDMWAD YILFVDADNL ILNPDTLSLL 180 IAENKTVVAP MLDSRAAYSN FWCGMTSQGY YKRTPAYIPI RKRDRRGCFA VPMVHSTFLI 240 DLRKAASRNL AFYPPHPDYT WSFDDIIVFA FSCKQAEVQM YVCNKEEYGF LPVPLRAHST 300 LQDEAESFMH VQLEVMVKHP PAEPSRFISA PTKTPDKMGF DEVFMINLRR RQDRRERMLR 360 ALQAQEIECR LVEAVDGKAM NTSQVEALGI QMLPGYRDPY HGRPLTKGEL GCFLSHYNIW 420 KEVVDRGLQK SLVFEDDLRF EIFFKRRLMN LMRDVEREGL DWDLIYVGRK RMQVEHPEKA 480 VPRVRNLVEA DYSYWTLAYV ISLQGARKLL AAEPLSKMLP VDEFLPVMFD KHPVSEYKAH 540 FSLRNLHAFS VEPLLIYPTH YTGDDGYVSD TETSVVWNNE HVKTDWDRAK SQKMREQQAL 600 SREAKNSDVL QSPLDSAARD EL 622

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	COLGALT1	513167	A5PK45		Bos taurus	Prediction	More>>
1:1 ortholog	COLGALT1	484834	F1PMG8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	COLGALT1	102172883	A0A452FC06		Capra hircus	Prediction	More>>
1:1 ortholog	COLGALT1	79709	Q8NBJ5		Homo sapiens	Prediction	More>>
1:1 ortholog	Colgalt1	234407	Q8K297	CPO	Mus musculus	Publication	More>>
1:1 ortholog	COLGALT1		H2R6A5		Pan troglodytes	Prediction	More>>
1:1 ortholog	COLGALT1		F1S940		Sus scrofa	Prediction	More>>
1:1 ortholog	Colgalt1	290637	B1H282		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1282885686	p.Ala2Ser	missense variant	-	NC_000019.10:g.17555717G>T	TOPMed
rs894299582	p.Ala3Val	missense variant	-	NC_000019.10:g.17555721C>T	TOPMed
rs1330740104	p.Ala4Thr	missense variant	-	NC_000019.10:g.17555723G>A	TOPMed
rs1012740258	p.Pro5Ser	missense variant	-	NC_000019.10:g.17555726C>T	TOPMed,gnomAD
rs1449330996	p.Ala7Gly	missense variant	-	NC_000019.10:g.17555733C>G	TOPMed
rs1286351396	p.Ala7Pro	missense variant	-	NC_000019.10:g.17555732G>C	TOPMed
rs1015946992	p.Arg10Pro	missense variant	-	NC_000019.10:g.17555742G>C	TOPMed,gnomAD
rs898945714	p.Arg11Cys	missense variant	-	NC_000019.10:g.17555744C>T	TOPMed,gnomAD
rs898945714	p.Arg11Gly	missense variant	-	NC_000019.10:g.17555744C>G	TOPMed,gnomAD
rs1026000317	p.Gly12Arg	missense variant	-	NC_000019.10:g.17555747G>C	TOPMed
rs1026000317	p.Gly12Arg	missense variant	-	NC_000019.10:g.17555747G>A	TOPMed
rs1415343991	p.Gln13His	missense variant	-	NC_000019.10:g.17555752G>T	TOPMed
rs1207726925	p.Pro14Leu	missense variant	-	NC_000019.10:g.17555754C>T	gnomAD
rs955092262	p.Pro14Ser	missense variant	-	NC_000019.10:g.17555753C>T	TOPMed,gnomAD
rs1473075564	p.Leu15Phe	missense variant	-	NC_000019.10:g.17555756C>T	TOPMed
rs1465226468	p.Leu16Pro	missense variant	-	NC_000019.10:g.17555760T>C	gnomAD
rs1357137537	p.Leu16Val	missense variant	-	NC_000019.10:g.17555759C>G	TOPMed,gnomAD
rs987750259	p.Ala17Glu	missense variant	-	NC_000019.10:g.17555763C>A	TOPMed,gnomAD
rs1465812588	p.Leu22Pro	missense variant	-	NC_000019.10:g.17555778T>C	TOPMed
rs1461937998	p.Leu22Met	missense variant	-	NC_000019.10:g.17555777C>A	gnomAD
rs1332248562	p.Pro27Leu	missense variant	-	NC_000019.10:g.17555793C>T	TOPMed
rs1236594578	p.Pro27Thr	missense variant	-	NC_000019.10:g.17555792C>A	gnomAD
rs1292443014	p.Pro28Ser	missense variant	-	NC_000019.10:g.17555795C>T	TOPMed
rs1229290438	p.Gly29Arg	missense variant	-	NC_000019.10:g.17555798G>C	TOPMed
rs1159262236	p.Gly29Glu	missense variant	-	NC_000019.10:g.17555799G>A	TOPMed,gnomAD
rs964873130	p.Ala30Val	missense variant	-	NC_000019.10:g.17555802C>T	TOPMed,gnomAD
rs1325340430	p.Pro31Ser	missense variant	-	NC_000019.10:g.17555804C>T	TOPMed
rs1438919919	p.Pro31Gln	missense variant	-	NC_000019.10:g.17555805C>A	TOPMed
rs1179027745	p.Pro32Arg	missense variant	-	NC_000019.10:g.17555808C>G	TOPMed,gnomAD
rs1179027745	p.Pro32Leu	missense variant	-	NC_000019.10:g.17555808C>T	TOPMed,gnomAD
rs989671669	p.Gly33Val	missense variant	-	NC_000019.10:g.17555811G>T	TOPMed,gnomAD
rs1330214620	p.Ala36Thr	missense variant	-	NC_000019.10:g.17555819G>A	gnomAD
rs1374240270	p.Tyr37Cys	missense variant	-	NC_000019.10:g.17555823A>G	gnomAD
rs7259723	p.Phe38Leu	missense variant	-	NC_000019.10:g.17555827C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1279676698	p.Pro39His	missense variant	-	NC_000019.10:g.17555829C>A	gnomAD
rs1451286345	p.Pro39Ser	missense variant	-	NC_000019.10:g.17555828C>T	TOPMed
rs978458440	p.Glu40Gly	missense variant	-	NC_000019.10:g.17555832A>G	TOPMed
rs766525393	p.Glu40Lys	missense variant	-	NC_000019.10:g.17555831G>A	ExAC,gnomAD
rs1197800903	p.Arg42Cys	missense variant	-	NC_000019.10:g.17555837C>T	gnomAD
rs1013121754	p.Arg42His	missense variant	-	NC_000019.10:g.17555838G>A	TOPMed
rs1197800903	p.Arg42Ser	missense variant	-	NC_000019.10:g.17555837C>A	gnomAD
rs1439828052	p.Trp43Ter	stop gained	-	NC_000019.10:g.17555842G>A	gnomAD
rs1229465169	p.Pro45Thr	missense variant	-	NC_000019.10:g.17555846C>A	TOPMed,gnomAD
rs1437549251	p.Pro45Leu	missense variant	-	NC_000019.10:g.17555847C>T	TOPMed
rs1231209159	p.Glu46Asp	missense variant	-	NC_000019.10:g.17555851G>C	TOPMed
rs1477086485	p.Pro48His	missense variant	-	NC_000019.10:g.17555856C>A	gnomAD
rs1024052482	p.Gln50Arg	missense variant	-	NC_000019.10:g.17555862A>G	gnomAD
rs1202157440	p.Gln50Ter	stop gained	-	NC_000019.10:g.17555861C>T	gnomAD
rs1024052482	p.Gln50Leu	missense variant	-	NC_000019.10:g.17555862A>T	gnomAD
rs1302741369	p.Ala51Val	missense variant	-	NC_000019.10:g.17555865C>T	TOPMed
rs1310715530	p.Ala51Thr	missense variant	-	NC_000019.10:g.17555864G>A	gnomAD
rs1169033126	p.Pro52Leu	missense variant	-	NC_000019.10:g.17555868C>T	gnomAD
rs1465396700	p.Pro52Ser	missense variant	-	NC_000019.10:g.17555867C>T	TOPMed,gnomAD
rs1393843223	p.Arg53Cys	missense variant	-	NC_000019.10:g.17555870C>T	gnomAD
rs1294401883	p.Leu55Phe	missense variant	-	NC_000019.10:g.17555876C>T	TOPMed
rs998480369	p.Ile56Met	missense variant	-	NC_000019.10:g.17555881C>G	TOPMed,gnomAD
rs1486708765	p.Ala57Pro	missense variant	-	NC_000019.10:g.17555882G>C	gnomAD
rs1250995744	p.Ala60Pro	missense variant	-	NC_000019.10:g.17555891G>C	gnomAD
rs563277874	p.Asn62Lys	missense variant	-	NC_000019.10:g.17555899C>G	1000Genomes,TOPMed,gnomAD
rs1431007599	p.Ala63Thr	missense variant	-	NC_000019.10:g.17555900G>A	TOPMed
rs1057044165	p.His65Gln	missense variant	-	NC_000019.10:g.17555908C>A	TOPMed,gnomAD
rs1422778466	p.His65Tyr	missense variant	-	NC_000019.10:g.17555906C>T	gnomAD
rs1402573620	p.Ala66Thr	missense variant	-	NC_000019.10:g.17555909G>A	TOPMed,gnomAD
rs1231485928	p.Ala66Glu	missense variant	-	NC_000019.10:g.17555910C>A	TOPMed
rs1396445903	p.Thr70Arg	missense variant	-	NC_000019.10:g.17555922C>G	gnomAD
rs1217765858	p.Leu71Pro	missense variant	-	NC_000019.10:g.17555925T>C	gnomAD
rs1280328141	p.Arg78Gln	missense variant	-	NC_000019.10:g.17555946G>A	TOPMed
rs1208804272	p.Pro80Ser	missense variant	-	NC_000019.10:g.17555951C>T	TOPMed
rs746478240	p.Pro80Arg	missense variant	-	NC_000019.10:g.17555952C>G	TOPMed,gnomAD
rs746478240	p.Pro80Leu	missense variant	-	NC_000019.10:g.17555952C>T	TOPMed,gnomAD
rs1289452027	p.Arg83Leu	missense variant	-	NC_000019.10:g.17555961G>T	gnomAD
rs990071220	p.Thr84Met	missense variant	-	NC_000019.10:g.17555964C>T	TOPMed,gnomAD
rs1443533147	p.Leu86Val	missense variant	-	NC_000019.10:g.17555969C>G	gnomAD
rs749884457	p.Ala89Val	missense variant	-	NC_000019.10:g.17559316C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala89Thr	missense variant	-	NC_000019.10:g.17559315G>A	NCI-TCGA
rs368847314	p.Thr90Met	missense variant	-	NC_000019.10:g.17559319C>T	ESP,ExAC,TOPMed,gnomAD
rs1488245407	p.Asp95Val	missense variant	-	NC_000019.10:g.17559334A>T	gnomAD
rs1488245407	p.Asp95Gly	missense variant	-	NC_000019.10:g.17559334A>G	gnomAD
rs1214999229	p.Thr97Met	missense variant	-	NC_000019.10:g.17559340C>T	TOPMed,gnomAD
rs202232301	p.Thr99Ala	missense variant	-	NC_000019.10:g.17559345A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1367498384	p.Leu101Pro	missense variant	-	NC_000019.10:g.17559352T>C	gnomAD
rs972770752	p.Arg102Gln	missense variant	-	NC_000019.10:g.17559355G>A	TOPMed,gnomAD
rs377086776	p.Arg102Trp	missense variant	-	NC_000019.10:g.17559354C>T	ESP,ExAC,TOPMed,gnomAD
rs1385242208	p.Glu103Lys	missense variant	-	NC_000019.10:g.17559357G>A	gnomAD
rs772575752	p.Val106Gly	missense variant	-	NC_000019.10:g.17559367T>G	ExAC,gnomAD
rs772575752	p.Val106Ala	missense variant	-	NC_000019.10:g.17559367T>C	ExAC,gnomAD
rs773716293	p.Ala107Gly	missense variant	-	NC_000019.10:g.17559370C>G	ExAC,gnomAD
rs144331541	p.Val108Met	missense variant	-	NC_000019.10:g.17559372G>A	ESP,ExAC,TOPMed,gnomAD
rs144331541	p.Val108Leu	missense variant	-	NC_000019.10:g.17559372G>T	ESP,ExAC,TOPMed,gnomAD
rs759842843	p.Ser110Asn	missense variant	-	NC_000019.10:g.17559379G>A	ExAC,gnomAD
rs1200229778	p.Ser114Phe	missense variant	-	NC_000019.10:g.17559391C>T	gnomAD
rs1462939279	p.Val115Met	missense variant	-	NC_000019.10:g.17559393G>A	NCI-TCGA
rs1462939279	p.Val115Met	missense variant	-	NC_000019.10:g.17559393G>A	gnomAD
rs1195791824	p.Glu116Ala	missense variant	-	NC_000019.10:g.17559397A>C	TOPMed
rs1243402556	p.Trp117Ter	stop gained	-	NC_000019.10:g.17559401G>A	gnomAD
rs868703099	p.Arg118Trp	missense variant	-	NC_000019.10:g.17559402C>T	TOPMed,gnomAD
rs1006607510	p.Arg118Gln	missense variant	-	NC_000019.10:g.17559403G>A	TOPMed,gnomAD
rs1454297119	p.Ala120Gly	missense variant	-	NC_000019.10:g.17559409C>G	TOPMed,gnomAD
rs1189076427	p.Ala120Thr	missense variant	-	NC_000019.10:g.17559408G>A	TOPMed
rs1454297119	p.Ala120Glu	missense variant	-	NC_000019.10:g.17559409C>A	TOPMed,gnomAD
rs1403538703	p.Glu121Lys	missense variant	-	NC_000019.10:g.17559411G>A	TOPMed,gnomAD
rs1260496310	p.Glu122Gly	missense variant	-	NC_000019.10:g.17559415A>G	TOPMed
rs1337578933	p.Pro123Ser	missense variant	-	NC_000019.10:g.17559417C>T	gnomAD
rs1337578933	p.Pro123Ser	missense variant	-	NC_000019.10:g.17559417C>T	NCI-TCGA
rs1266647832	p.Arg124Ser	missense variant	-	NC_000019.10:g.17560348G>C	gnomAD
rs1481404600	p.Ser125Pro	missense variant	-	NC_000019.10:g.17560349T>C	gnomAD
rs1199863939	p.Tyr126Phe	missense variant	-	NC_000019.10:g.17560353A>T	gnomAD
rs139134591	p.Pro127Leu	missense variant	-	NC_000019.10:g.17560356C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375454169	p.Asp128Val	missense variant	-	NC_000019.10:g.17560359A>T	ESP
rs139132596	p.Glu129Lys	missense variant	-	NC_000019.10:g.17560361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1457446114	p.Glu130Lys	missense variant	-	NC_000019.10:g.17560364G>A	TOPMed,gnomAD
rs1301428927	p.Gly131Cys	missense variant	-	NC_000019.10:g.17560367G>T	gnomAD
rs747333426	p.Pro132Arg	missense variant	-	NC_000019.10:g.17560371C>G	ExAC,TOPMed,gnomAD
rs747333426	p.Pro132Leu	missense variant	-	NC_000019.10:g.17560371C>T	ExAC,TOPMed,gnomAD
rs765978092	p.Pro132Ala	missense variant	-	NC_000019.10:g.17560370C>G	ExAC,TOPMed,gnomAD
rs200854203	p.Lys133Arg	missense variant	-	NC_000019.10:g.17560374A>G	ExAC,gnomAD
rs754452834	p.Lys133Gln	missense variant	-	NC_000019.10:g.17560373A>C	ExAC,TOPMed,gnomAD
rs1297219982	p.His134Tyr	missense variant	-	NC_000019.10:g.17560376C>T	gnomAD
rs1463299649	p.His134Gln	missense variant	-	NC_000019.10:g.17560378C>G	gnomAD
rs752315843	p.Asp137Tyr	missense variant	-	NC_000019.10:g.17560385G>T	ExAC,TOPMed
rs758742455	p.Ser138Ter	stop gained	-	NC_000019.10:g.17560389C>G	ExAC,TOPMed,gnomAD
rs758742455	p.Ser138Leu	missense variant	-	NC_000019.10:g.17560389C>T	ExAC,TOPMed,gnomAD
rs1244568958	p.Ser138Pro	missense variant	-	NC_000019.10:g.17560388T>C	gnomAD
rs143978619	p.Arg139Cys	missense variant	-	NC_000019.10:g.17560391C>T	ESP,ExAC,TOPMed,gnomAD
rs202070026	p.Arg139His	missense variant	-	NC_000019.10:g.17560392G>A	ExAC,TOPMed,gnomAD
rs1484749048	p.Tyr140His	missense variant	-	NC_000019.10:g.17560394T>C	gnomAD
rs1188093870	p.Tyr140Ter	stop gained	-	NC_000019.10:g.17560396C>A	TOPMed,gnomAD
rs1188093870	p.Tyr140Ter	stop gained	-	NC_000019.10:g.17560396C>G	TOPMed,gnomAD
rs1420470672	p.Glu141Asp	missense variant	-	NC_000019.10:g.17560399G>C	gnomAD
NCI-TCGA novel	p.Glu141Gly	missense variant	-	NC_000019.10:g.17560398A>G	NCI-TCGA
NCI-TCGA novel	p.Glu141Lys	missense variant	-	NC_000019.10:g.17560397G>A	NCI-TCGA
rs745919348	p.His142Arg	missense variant	-	NC_000019.10:g.17560401A>G	ExAC,gnomAD
rs745919348	p.His142Pro	missense variant	-	NC_000019.10:g.17560401A>C	ExAC,gnomAD
rs745919348	p.His142Arg	missense variant	-	NC_000019.10:g.17560401A>G	NCI-TCGA
NCI-TCGA novel	p.His142Leu	missense variant	-	NC_000019.10:g.17560401A>T	NCI-TCGA
COSM4687257	p.Met144Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17560407T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met144Ile	missense variant	-	NC_000019.10:g.17560408G>C	NCI-TCGA
rs775756264	p.Arg147His	missense variant	-	NC_000019.10:g.17560416G>A	NCI-TCGA
rs769784776	p.Arg147Cys	missense variant	-	NC_000019.10:g.17560415C>T	NCI-TCGA
rs769784776	p.Arg147Cys	missense variant	-	NC_000019.10:g.17560415C>T	ExAC,gnomAD
rs775756264	p.Arg147His	missense variant	-	NC_000019.10:g.17560416G>A	ExAC,TOPMed,gnomAD
COSM992821	p.Gln148Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17560419A>G	NCI-TCGA Cosmic
rs532508199	p.Ala149Glu	missense variant	-	NC_000019.10:g.17560422C>A	ExAC,TOPMed,gnomAD
rs189437760	p.Ala150Val	missense variant	-	NC_000019.10:g.17560425C>T	1000Genomes,ExAC,gnomAD
RCV000761581	p.Leu151Arg	missense variant	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17560428T>G	ClinVar
rs1478523191	p.Leu151Arg	missense variant	Brain small vessel disease 3 (BSVD3)	NC_000019.10:g.17560428T>G	UniProt,dbSNP
VAR_081752	p.Leu151Arg	missense variant	Brain small vessel disease 3 (BSVD3)	NC_000019.10:g.17560428T>G	UniProt
rs1478523191	p.Leu151Arg	missense variant	-	NC_000019.10:g.17560428T>G	-
rs894125455	p.Ser153Leu	missense variant	-	NC_000019.10:g.17560434C>T	TOPMed
RCV000761583	p.Ala154Pro	missense variant	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17560436G>C	ClinVar
rs776469405	p.Ala154Gly	missense variant	-	NC_000019.10:g.17560437C>G	ExAC,gnomAD
rs181844791	p.Ala154Ser	missense variant	-	NC_000019.10:g.17560436G>T	1000Genomes,ExAC,gnomAD
rs776469405	p.Ala154Val	missense variant	-	NC_000019.10:g.17560437C>T	ExAC,gnomAD
rs181844791	p.Ala154Pro	missense variant	-	NC_000019.10:g.17560436G>C	1000Genomes,ExAC,gnomAD
rs142311552	p.Arg155Gly	missense variant	-	NC_000019.10:g.17560439C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368177259	p.Arg155Pro	missense variant	-	NC_000019.10:g.17560440G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368177259	p.Arg155Gln	missense variant	-	NC_000019.10:g.17560440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1166165520	p.Asp156Val	missense variant	-	NC_000019.10:g.17560443A>T	gnomAD
rs1315110012	p.Met157Val	missense variant	-	NC_000019.10:g.17560445A>G	gnomAD
rs1315110012	p.Met157Leu	missense variant	-	NC_000019.10:g.17560445A>C	gnomAD
NCI-TCGA novel	p.Met157Arg	missense variant	-	NC_000019.10:g.17560446T>G	NCI-TCGA
rs764429704	p.Leu163Val	missense variant	-	NC_000019.10:g.17560463C>G	ExAC,TOPMed,gnomAD
rs149722085	p.Ala167Val	missense variant	-	NC_000019.10:g.17567416C>T	ESP,ExAC,TOPMed,gnomAD
rs149722085	p.Ala167Gly	missense variant	-	NC_000019.10:g.17567416C>G	ESP,ExAC,TOPMed,gnomAD
rs1407832582	p.Ala167Thr	missense variant	-	NC_000019.10:g.17567415G>A	gnomAD
NCI-TCGA novel	p.Asp168His	missense variant	-	NC_000019.10:g.17567418G>C	NCI-TCGA
rs572655280	p.Asn169Ser	missense variant	-	NC_000019.10:g.17567422A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu172Phe	missense variant	-	NC_000019.10:g.17567430C>T	NCI-TCGA
rs755142919	p.Asn173Ser	missense variant	-	NC_000019.10:g.17567434A>G	ExAC,TOPMed,gnomAD
rs1242223408	p.Pro174Thr	missense variant	-	NC_000019.10:g.17567436C>A	TOPMed
rs1344847224	p.Leu177Val	missense variant	-	NC_000019.10:g.17567445C>G	TOPMed,gnomAD
rs535283675	p.Leu180Phe	missense variant	-	NC_000019.10:g.17567454C>T	1000Genomes
rs770728745	p.Ala182Thr	missense variant	-	NC_000019.10:g.17567460G>A	ExAC,gnomAD
rs1195377173	p.Glu183Lys	missense variant	-	NC_000019.10:g.17567463G>A	gnomAD
rs1271161729	p.Asn184Asp	missense variant	-	NC_000019.10:g.17567466A>G	gnomAD
rs1439595039	p.Thr186Met	missense variant	-	NC_000019.10:g.17567473C>T	TOPMed,gnomAD
rs201581562	p.Val187Ala	missense variant	-	NC_000019.10:g.17567476T>C	ExAC,TOPMed,gnomAD
rs769561526	p.Val187Met	missense variant	-	NC_000019.10:g.17567475G>A	ExAC,gnomAD
rs747606083	p.Ala189Thr	missense variant	-	NC_000019.10:g.17567481G>A	gnomAD
rs1317761576	p.Ala189Val	missense variant	-	NC_000019.10:g.17567482C>T	TOPMed
rs773961516	p.Pro190His	missense variant	-	NC_000019.10:g.17567485C>A	ExAC,gnomAD
rs768204073	p.Pro190Ala	missense variant	-	NC_000019.10:g.17567484C>G	ExAC,TOPMed,gnomAD
rs768204073	p.Pro190Ser	missense variant	-	NC_000019.10:g.17567484C>T	ExAC,TOPMed,gnomAD
rs773961516	p.Pro190Arg	missense variant	-	NC_000019.10:g.17567485C>G	ExAC,gnomAD
rs1031056049	p.Met191Val	missense variant	-	NC_000019.10:g.17567487A>G	TOPMed,gnomAD
rs1416980087	p.Leu192Pro	missense variant	-	NC_000019.10:g.17567491T>C	gnomAD
rs767908658	p.Arg195Gln	missense variant	-	NC_000019.10:g.17567500G>A	ExAC,gnomAD
rs761435653	p.Arg195Trp	missense variant	-	NC_000019.10:g.17567499C>T	ExAC,TOPMed,gnomAD
rs750693197	p.Ala196Pro	missense variant	-	NC_000019.10:g.17567502G>C	ExAC,gnomAD
rs761108171	p.Ala197Gly	missense variant	-	NC_000019.10:g.17567506C>G	ExAC,TOPMed,gnomAD
rs761108171	p.Ala197Glu	missense variant	-	NC_000019.10:g.17567506C>A	ExAC,TOPMed,gnomAD
rs761108171	p.Ala197Val	missense variant	-	NC_000019.10:g.17567506C>T	ExAC,TOPMed,gnomAD
COSM4854403	p.Ser199Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17567512C>G	NCI-TCGA Cosmic
rs1053205642	p.Asn200Ser	missense variant	-	NC_000019.10:g.17567515A>G	TOPMed
COSM3530405	p.Trp202Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17567522G>C	NCI-TCGA Cosmic
rs1399323743	p.Trp202Arg	missense variant	-	NC_000019.10:g.17567520T>A	TOPMed
NCI-TCGA novel	p.Thr206Ala	missense variant	-	NC_000019.10:g.17567532A>G	NCI-TCGA
rs1390283521	p.Gly209Val	missense variant	-	NC_000019.10:g.17568510G>T	TOPMed
rs372885942	p.Tyr210Cys	missense variant	-	NC_000019.10:g.17568513A>G	ESP,ExAC,TOPMed,gnomAD
rs375611652	p.Tyr211Cys	missense variant	-	NC_000019.10:g.17568516A>G	ESP,ExAC,TOPMed,gnomAD
rs1453055239	p.Tyr211His	missense variant	-	NC_000019.10:g.17568515T>C	gnomAD
rs772721847	p.Arg213Cys	missense variant	-	NC_000019.10:g.17568521C>T	ExAC,gnomAD
rs746718728	p.Arg213His	missense variant	-	NC_000019.10:g.17568522G>A	ExAC,TOPMed,gnomAD
rs771418089	p.Thr214Ile	missense variant	-	NC_000019.10:g.17568525C>T	ExAC,gnomAD
rs1231514755	p.Thr214Ala	missense variant	-	NC_000019.10:g.17568524A>G	TOPMed
rs1207296404	p.Pro215Leu	missense variant	-	NC_000019.10:g.17568528C>T	TOPMed
rs370240931	p.Pro215Ala	missense variant	-	NC_000019.10:g.17568527C>G	ESP,ExAC,gnomAD
rs1483645587	p.Tyr217Cys	missense variant	-	NC_000019.10:g.17568534A>G	TOPMed
rs759994455	p.Ile218Val	missense variant	-	NC_000019.10:g.17568536A>G	ExAC,gnomAD
rs776085467	p.Ile220Val	missense variant	-	NC_000019.10:g.17568542A>G	ExAC,TOPMed,gnomAD
rs200477437	p.Arg221Leu	missense variant	-	NC_000019.10:g.17568546G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200477437	p.Arg221His	missense variant	-	NC_000019.10:g.17568546G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1012437941	p.Arg221Cys	missense variant	-	NC_000019.10:g.17568545C>T	TOPMed,gnomAD
rs1012437941	p.Arg221Gly	missense variant	-	NC_000019.10:g.17568545C>G	TOPMed,gnomAD
rs149170420	p.Lys222Gln	missense variant	-	NC_000019.10:g.17568548A>C	ESP,ExAC,TOPMed,gnomAD
rs1002620025	p.Arg223Gln	missense variant	-	NC_000019.10:g.17568552G>A	TOPMed,gnomAD
rs888552889	p.Arg223Ter	stop gained	-	NC_000019.10:g.17568551C>T	TOPMed,gnomAD
rs1459747920	p.Arg225His	missense variant	-	NC_000019.10:g.17568558G>A	gnomAD
rs142308296	p.Arg225Cys	missense variant	-	NC_000019.10:g.17568557C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg225Leu	missense variant	-	NC_000019.10:g.17568558G>T	NCI-TCGA
rs147899199	p.Arg226Gln	missense variant	-	NC_000019.10:g.17568561G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767735851	p.Arg226Trp	missense variant	-	NC_000019.10:g.17568560C>T	ExAC,TOPMed,gnomAD
rs1376732036	p.Cys228Arg	missense variant	-	NC_000019.10:g.17568566T>C	TOPMed
rs1179513837	p.Ala230Val	missense variant	-	NC_000019.10:g.17568573C>T	gnomAD
COSM2153644	p.Pro232Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17568579C>T	NCI-TCGA Cosmic
rs757819968	p.Pro232His	missense variant	-	NC_000019.10:g.17568579C>A	ExAC,gnomAD
rs777413266	p.Met233Val	missense variant	-	NC_000019.10:g.17568581A>G	ExAC,gnomAD
rs1471115740	p.His235Arg	missense variant	-	NC_000019.10:g.17568588A>G	TOPMed,gnomAD
rs770651241	p.Ser236Leu	missense variant	-	NC_000019.10:g.17568591C>T	ExAC,gnomAD
rs1351700073	p.Thr237Ile	missense variant	-	NC_000019.10:g.17568594C>T	gnomAD
rs746197010	p.Thr237Pro	missense variant	-	NC_000019.10:g.17568593A>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr237Ala	missense variant	-	NC_000019.10:g.17568593A>G	NCI-TCGA
rs770328706	p.Ile240Met	missense variant	-	NC_000019.10:g.17568604C>G	ExAC,gnomAD
rs370797013	p.Asp241His	missense variant	-	NC_000019.10:g.17568605G>C	ESP,ExAC,TOPMed,gnomAD
rs370797013	p.Asp241Asn	missense variant	-	NC_000019.10:g.17568605G>A	ESP,ExAC,TOPMed,gnomAD
rs763582439	p.Leu242Val	missense variant	-	NC_000019.10:g.17568608C>G	ExAC,TOPMed
rs1337347081	p.Leu242Pro	missense variant	-	NC_000019.10:g.17568609T>C	gnomAD
rs141574019	p.Arg243Trp	missense variant	-	NC_000019.10:g.17568611C>T	ESP,TOPMed,gnomAD
rs368389857	p.Arg243Gln	missense variant	-	NC_000019.10:g.17568612G>A	ESP,ExAC,TOPMed,gnomAD
rs201119112	p.Ala245Val	missense variant	-	NC_000019.10:g.17568618C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759308497	p.Ala246Val	missense variant	-	NC_000019.10:g.17568621C>T	ExAC,gnomAD
rs752577249	p.Ser247Ala	missense variant	-	NC_000019.10:g.17568623T>G	ExAC,TOPMed,gnomAD
rs879703663	p.Leu250Pro	missense variant	-	NC_000019.10:g.17568633T>C	TOPMed
rs147034710	p.Ala251Gly	missense variant	-	NC_000019.10:g.17568636C>G	ESP,ExAC,TOPMed,gnomAD
rs1300029410	p.Phe252Leu	missense variant	-	NC_000019.10:g.17568640C>G	gnomAD
rs756861394	p.Phe252Ser	missense variant	-	NC_000019.10:g.17568639T>C	ExAC,gnomAD
rs751048049	p.Phe252Val	missense variant	-	NC_000019.10:g.17568638T>G	ExAC,gnomAD
rs138583714	p.Tyr253Cys	missense variant	-	NC_000019.10:g.17568642A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4075403	p.Pro255His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17568648C>A	NCI-TCGA Cosmic
rs749623821	p.Pro257Ser	missense variant	-	NC_000019.10:g.17568653C>T	ExAC,gnomAD
COSM4075404	p.Pro257Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17568653C>A	NCI-TCGA Cosmic
rs769137234	p.Pro257Arg	missense variant	-	NC_000019.10:g.17568654C>G	ExAC,gnomAD
rs1306605837	p.Asp258Asn	missense variant	-	NC_000019.10:g.17568656G>A	TOPMed,gnomAD
rs1356863369	p.Trp261Ter	stop gained	-	NC_000019.10:g.17568667G>A	TOPMed
rs772191035	p.Asp265Asn	missense variant	-	NC_000019.10:g.17568677G>A	ExAC,gnomAD
rs1266715275	p.Ile266Asn	missense variant	-	NC_000019.10:g.17568681T>A	gnomAD
rs1221580957	p.Ile266Val	missense variant	-	NC_000019.10:g.17568680A>G	gnomAD
rs1489317357	p.Ile267Val	missense variant	-	NC_000019.10:g.17568683A>G	gnomAD
rs760958066	p.Val268Ile	missense variant	-	NC_000019.10:g.17568686G>A	ExAC,TOPMed,gnomAD
rs374143153	p.Ala270Val	missense variant	-	NC_000019.10:g.17568693C>T	ESP,ExAC,TOPMed,gnomAD
rs374143153	p.Ala270Asp	missense variant	-	NC_000019.10:g.17568693C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser272Pro	missense variant	-	NC_000019.10:g.17568698T>C	NCI-TCGA
rs1417562889	p.Cys273Gly	missense variant	-	NC_000019.10:g.17568701T>G	TOPMed
rs1172809054	p.Cys273Ter	stop gained	-	NC_000019.10:g.17568703C>A	TOPMed,gnomAD
rs762661375	p.Ala276Glu	missense variant	-	NC_000019.10:g.17568711C>A	ExAC,TOPMed,gnomAD
rs775298201	p.Ala276Thr	missense variant	-	NC_000019.10:g.17568710G>A	ExAC,gnomAD
rs762661375	p.Ala276Val	missense variant	-	NC_000019.10:g.17568711C>T	ExAC,TOPMed,gnomAD
rs138875135	p.Gln279His	missense variant	-	NC_000019.10:g.17572490G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761898210	p.Val282Glu	missense variant	-	NC_000019.10:g.17572498T>A	ExAC,TOPMed,gnomAD
rs1268979044	p.Asn284Ser	missense variant	-	NC_000019.10:g.17572504A>G	gnomAD
rs367624139	p.Lys285Glu	missense variant	-	NC_000019.10:g.17572506A>G	1000Genomes,ESP,ExAC,TOPMed
rs749882172	p.Lys285Arg	missense variant	-	NC_000019.10:g.17572507A>G	ExAC,gnomAD
rs1473176378	p.Gly289Arg	missense variant	-	NC_000019.10:g.17572518G>A	gnomAD
rs149400191	p.Pro292Ala	missense variant	-	NC_000019.10:g.17572527C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149400191	p.Pro292Thr	missense variant	-	NC_000019.10:g.17572527C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs571016892	p.Val293Leu	missense variant	-	NC_000019.10:g.17572530G>T	1000Genomes
COSM1391489	p.Pro294Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17572533C>T	NCI-TCGA Cosmic
rs536730145	p.Arg296Cys	missense variant	-	NC_000019.10:g.17572539C>T	ExAC,TOPMed,gnomAD
rs1473759762	p.Arg296His	missense variant	-	NC_000019.10:g.17572540G>A	TOPMed,gnomAD
rs748644675	p.Ala297Thr	missense variant	-	NC_000019.10:g.17572542G>A	ExAC,gnomAD
rs758848927	p.Ser299Arg	missense variant	-	NC_000019.10:g.17572550C>A	ExAC,gnomAD
rs1468903937	p.Ser299Asn	missense variant	-	NC_000019.10:g.17572549G>A	gnomAD
rs554052501	p.Thr300Ile	missense variant	-	NC_000019.10:g.17572552C>T	ExAC,TOPMed,gnomAD
COSM4512401	p.Leu301Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17572554C>T	NCI-TCGA Cosmic
rs1448158879	p.Leu301Val	missense variant	-	NC_000019.10:g.17572554C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu301Ile	missense variant	-	NC_000019.10:g.17572554C>A	NCI-TCGA
rs1297504584	p.Asp303His	missense variant	-	NC_000019.10:g.17572560G>C	gnomAD
rs770940424	p.Ala305Val	missense variant	-	NC_000019.10:g.17572567C>T	ExAC,gnomAD
rs768557609	p.Glu306Lys	missense variant	-	NC_000019.10:g.17572569G>A	ExAC,gnomAD
rs774229904	p.Ser307Gly	missense variant	-	NC_000019.10:g.17572572A>G	ExAC,gnomAD
rs772090628	p.Met309Thr	missense variant	-	NC_000019.10:g.17572579T>C	ExAC,gnomAD
rs140014363	p.Val311Leu	missense variant	-	NC_000019.10:g.17572584G>T	1000Genomes,ExAC,gnomAD
rs1203966034	p.Gln312Arg	missense variant	-	NC_000019.10:g.17572588A>G	gnomAD
rs372832557	p.Leu313Pro	missense variant	-	NC_000019.10:g.17572591T>C	ESP,TOPMed
rs760208391	p.Val315Ile	missense variant	-	NC_000019.10:g.17572596G>A	ExAC,gnomAD
rs1183540949	p.Met316Ile	missense variant	-	NC_000019.10:g.17572601G>C	TOPMed,gnomAD
rs1363853791	p.Val317Leu	missense variant	-	NC_000019.10:g.17572602G>C	gnomAD
rs977372621	p.Lys318Thr	missense variant	-	NC_000019.10:g.17577198A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys318Asn	missense variant	-	NC_000019.10:g.17577199G>C	NCI-TCGA
rs1384522522	p.His319Gln	missense variant	-	NC_000019.10:g.17577202C>G	TOPMed,gnomAD
rs531783031	p.His319Tyr	missense variant	-	NC_000019.10:g.17577200C>T	1000Genomes,ExAC,gnomAD
rs1188697442	p.His319Arg	missense variant	-	NC_000019.10:g.17577201A>G	gnomAD
rs780399866	p.Pro320Leu	missense variant	-	NC_000019.10:g.17577204C>T	ExAC,TOPMed,gnomAD
rs756284913	p.Pro320Thr	missense variant	-	NC_000019.10:g.17577203C>A	ExAC,TOPMed,gnomAD
rs780399866	p.Pro320Arg	missense variant	-	NC_000019.10:g.17577204C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro320Gln	missense variant	-	NC_000019.10:g.17577204C>A	NCI-TCGA
rs749560380	p.Pro321Ser	missense variant	-	NC_000019.10:g.17577206C>T	ExAC,TOPMed,gnomAD
rs142395967	p.Ala322Thr	missense variant	-	NC_000019.10:g.17577209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142395967	p.Ala322Ser	missense variant	-	NC_000019.10:g.17577209G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371286780	p.Arg326Cys	missense variant	-	NC_000019.10:g.17577221C>T	ESP,ExAC,TOPMed,gnomAD
rs1314534642	p.Ile328Met	missense variant	-	NC_000019.10:g.17577229C>G	gnomAD
rs1338776597	p.Ser329TerTerTyrUnk	stop gained	-	NC_000019.10:g.17577230_17577231insAATGATA	gnomAD
rs564381887	p.Ser329Leu	missense variant	-	NC_000019.10:g.17577231C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs564381887	p.Ser329Trp	missense variant	-	NC_000019.10:g.17577231C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs564381887	p.Ser329Ter	stop gained	-	NC_000019.10:g.17577231C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs908949923	p.Ala330Thr	missense variant	-	NC_000019.10:g.17577233G>A	TOPMed
rs992934960	p.Pro331Thr	missense variant	-	NC_000019.10:g.17577236C>A	TOPMed,gnomAD
rs992934960	p.Pro331Ala	missense variant	-	NC_000019.10:g.17577236C>G	TOPMed,gnomAD
rs879219144	p.Lys333Ter	stop gained	-	NC_000019.10:g.17577242A>T	TOPMed,gnomAD
rs879219144	p.Lys333Glu	missense variant	-	NC_000019.10:g.17577242A>G	TOPMed,gnomAD
rs769345474	p.Pro335Ser	missense variant	-	NC_000019.10:g.17577248C>T	ExAC,gnomAD
rs1174007451	p.Pro335Gln	missense variant	-	NC_000019.10:g.17577249C>A	TOPMed
NCI-TCGA novel	p.Lys337Asn	missense variant	-	NC_000019.10:g.17577256G>C	NCI-TCGA
rs1199927154	p.Met338Ile	missense variant	-	NC_000019.10:g.17577259G>A	TOPMed
rs1426076827	p.Met338Arg	missense variant	-	NC_000019.10:g.17577258T>G	TOPMed
rs145927102	p.Asp341Glu	missense variant	-	NC_000019.10:g.17577268C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp341Asn	missense variant	-	NC_000019.10:g.17577266G>A	NCI-TCGA
rs1480898944	p.Glu342Lys	missense variant	-	NC_000019.10:g.17577269G>A	TOPMed
rs1409572040	p.Met345Leu	missense variant	-	NC_000019.10:g.17577367A>T	TOPMed
NCI-TCGA novel	p.Met345Val	missense variant	-	NC_000019.10:g.17577367A>G	NCI-TCGA
rs761321377	p.Ile346Asn	missense variant	-	NC_000019.10:g.17577371T>A	ExAC,TOPMed,gnomAD
rs767008591	p.Ile346Met	missense variant	-	NC_000019.10:g.17577372C>G	ExAC,gnomAD
rs1156676886	p.Ile346Leu	missense variant	-	NC_000019.10:g.17577370A>C	gnomAD
rs1202873002	p.Arg349Lys	missense variant	-	NC_000019.10:g.17577380G>A	gnomAD
rs1253933577	p.Arg350Gln	missense variant	-	NC_000019.10:g.17577383G>A	TOPMed,gnomAD
rs886951770	p.Arg351Leu	missense variant	-	NC_000019.10:g.17577386G>T	TOPMed,gnomAD
rs902377325	p.Arg351Trp	missense variant	-	NC_000019.10:g.17577385C>T	TOPMed,gnomAD
rs1199859597	p.Arg354Gly	missense variant	-	NC_000019.10:g.17577394C>G	gnomAD
COSM4687259	p.Arg355Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17577397C>T	NCI-TCGA Cosmic
rs1463245724	p.Arg355Gln	missense variant	-	NC_000019.10:g.17577398G>A	TOPMed
rs1312823991	p.Arg357Cys	missense variant	-	NC_000019.10:g.17577403C>T	gnomAD
rs753015513	p.Arg357His	missense variant	-	NC_000019.10:g.17577404G>A	ExAC,gnomAD
rs537490809	p.Arg360Gln	missense variant	-	NC_000019.10:g.17577413G>A	1000Genomes,TOPMed,gnomAD
rs756974396	p.Arg360Trp	missense variant	-	NC_000019.10:g.17577412C>T	ExAC,TOPMed,gnomAD
rs756974396	p.Arg360Gly	missense variant	-	NC_000019.10:g.17577412C>G	ExAC,TOPMed,gnomAD
rs1286838076	p.Gln363Arg	missense variant	-	NC_000019.10:g.17577422A>G	gnomAD
rs1316592111	p.Ala364Val	missense variant	-	NC_000019.10:g.17577425C>T	gnomAD
RCV000761582	p.Glu366Ter	frameshift	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17577430del	ClinVar
rs750229387	p.Glu366Ala	missense variant	-	NC_000019.10:g.17577431A>C	ExAC,TOPMed,gnomAD
rs755975971	p.Glu368Lys	missense variant	-	NC_000019.10:g.17577436G>A	ExAC,TOPMed,gnomAD
rs1032421349	p.Arg370Leu	missense variant	-	NC_000019.10:g.17577443G>T	gnomAD
rs1032421349	p.Arg370Gln	missense variant	-	NC_000019.10:g.17577443G>A	gnomAD
rs1290440605	p.Glu373Lys	missense variant	-	NC_000019.10:g.17577451G>A	TOPMed
rs1247684748	p.Val375Met	missense variant	-	NC_000019.10:g.17577457G>A	gnomAD
RCV000761584	p.Gly377Arg	missense variant	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17577463G>C	ClinVar
NCI-TCGA novel	p.Gly377Asp	missense variant	-	NC_000019.10:g.17577464G>A	NCI-TCGA
VAR_081754	p.Gly377Arg	Missense	Brain small vessel disease 3 (BSVD3) [MIM:618360]	-	UniProt
rs377615354	p.Met380Val	missense variant	-	NC_000019.10:g.17577961A>G	ESP,ExAC,gnomAD
rs374707500	p.Thr382Ser	missense variant	-	NC_000019.10:g.17577968C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1446694213	p.Thr382Ala	missense variant	-	NC_000019.10:g.17577967A>G	gnomAD
rs374707500	p.Thr382Ile	missense variant	-	NC_000019.10:g.17577968C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148691858	p.Ser383Gly	missense variant	-	NC_000019.10:g.17577970A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771472876	p.Ser383Asn	missense variant	-	NC_000019.10:g.17577971G>A	ExAC,TOPMed,gnomAD
rs1287413685	p.Gln384His	missense variant	-	NC_000019.10:g.17577975G>C	gnomAD
rs1230407785	p.Ala387Val	missense variant	-	NC_000019.10:g.17577983C>T	gnomAD
rs1326827163	p.Ala387Thr	missense variant	-	NC_000019.10:g.17577982G>A	gnomAD
rs775570371	p.Pro394Leu	missense variant	-	NC_000019.10:g.17578004C>T	ExAC,gnomAD
rs372215750	p.Arg397Pro	missense variant	-	NC_000019.10:g.17578013G>C	ESP,ExAC,TOPMed,gnomAD
rs764247645	p.Arg397Trp	missense variant	-	NC_000019.10:g.17578012C>T	ExAC,TOPMed,gnomAD
rs372215750	p.Arg397Gln	missense variant	-	NC_000019.10:g.17578013G>A	ESP,ExAC,TOPMed,gnomAD
rs1274660155	p.Tyr400Ter	stop gained	-	NC_000019.10:g.17578023C>A	TOPMed
rs1160878293	p.His401Leu	missense variant	-	NC_000019.10:g.17578025A>T	gnomAD
COSM6150146	p.His401Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17578024C>G	NCI-TCGA Cosmic
rs760430893	p.His401Tyr	missense variant	-	NC_000019.10:g.17578024C>T	ExAC,TOPMed,gnomAD
rs1413394794	p.Gly402Cys	missense variant	-	NC_000019.10:g.17578027G>T	TOPMed,gnomAD
rs1413394794	p.Gly402Ser	missense variant	-	NC_000019.10:g.17578027G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly402AlaPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.17578027G>-	NCI-TCGA
rs1360393885	p.Arg403Trp	missense variant	-	NC_000019.10:g.17578030C>T	gnomAD
NCI-TCGA novel	p.Arg403Leu	missense variant	-	NC_000019.10:g.17578031G>T	NCI-TCGA
NCI-TCGA novel	p.Arg403Gln	missense variant	-	NC_000019.10:g.17578031G>A	NCI-TCGA
rs1350013065	p.Pro404Ala	missense variant	-	NC_000019.10:g.17578033C>G	TOPMed,gnomAD
rs1350013065	p.Pro404Ser	missense variant	-	NC_000019.10:g.17578033C>T	TOPMed,gnomAD
rs1411470603	p.Lys407Glu	missense variant	-	NC_000019.10:g.17578042A>G	TOPMed,gnomAD
rs942511633	p.Gly411Asp	missense variant	-	NC_000019.10:g.17578055G>A	gnomAD
rs765093060	p.Phe413Cys	missense variant	-	NC_000019.10:g.17578061T>G	ExAC,TOPMed,gnomAD
rs1205015989	p.Leu414Val	missense variant	-	NC_000019.10:g.17578063C>G	gnomAD
rs558976439	p.Ser415Arg	missense variant	-	NC_000019.10:g.17578068C>A	1000Genomes,ExAC,gnomAD
rs1171786347	p.His416Asp	missense variant	-	NC_000019.10:g.17578069C>G	TOPMed
rs777547163	p.His416Arg	missense variant	-	NC_000019.10:g.17578070A>G	ExAC,gnomAD
rs746703670	p.Asn418Ile	missense variant	-	NC_000019.10:g.17578076A>T	ExAC,gnomAD
rs746703670	p.Asn418Thr	missense variant	-	NC_000019.10:g.17578076A>C	ExAC,gnomAD
rs1233092961	p.Ile419Val	missense variant	-	NC_000019.10:g.17578078A>G	gnomAD
rs1189110985	p.Trp420Leu	missense variant	-	NC_000019.10:g.17578082G>T	gnomAD
rs374939716	p.Val423Leu	missense variant	-	NC_000019.10:g.17579482G>T	ESP,ExAC,TOPMed,gnomAD
rs544877640	p.Val423Ala	missense variant	-	NC_000019.10:g.17579483T>C	1000Genomes,ExAC,gnomAD
rs544877640	p.Val423Gly	missense variant	-	NC_000019.10:g.17579483T>G	1000Genomes,ExAC,gnomAD
rs750079479	p.Val424Gly	missense variant	-	NC_000019.10:g.17579486T>G	ExAC,gnomAD
rs145212081	p.Val424Met	missense variant	-	NC_000019.10:g.17579485G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150637824	p.Asp425Glu	missense variant	-	NC_000019.10:g.17579490C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1471676166	p.Asp425Gly	missense variant	-	NC_000019.10:g.17579489A>G	gnomAD
rs754214674	p.Arg426Trp	missense variant	-	NC_000019.10:g.17579491C>T	ExAC,TOPMed,gnomAD
rs541154290	p.Arg426Gln	missense variant	-	NC_000019.10:g.17579492G>A	1000Genomes,ExAC,gnomAD
rs754214674	p.Arg426Gly	missense variant	-	NC_000019.10:g.17579491C>G	ExAC,TOPMed,gnomAD
rs560699305	p.Gly427Arg	missense variant	-	NC_000019.10:g.17579494G>A	1000Genomes
COSM438915	p.Gln429His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17579502G>C	NCI-TCGA Cosmic
rs1382883917	p.Gln429Lys	missense variant	-	NC_000019.10:g.17579500C>A	TOPMed,gnomAD
rs778026007	p.Ser431Leu	missense variant	-	NC_000019.10:g.17579507C>T	ExAC,gnomAD
rs747263236	p.Val433Gly	missense variant	-	NC_000019.10:g.17579513T>G	ExAC
rs1294221612	p.Asp436Asn	missense variant	-	NC_000019.10:g.17579521G>A	gnomAD
rs1328924438	p.Asp437Glu	missense variant	-	NC_000019.10:g.17579526C>G	gnomAD
rs775094058	p.Arg439His	missense variant	-	NC_000019.10:g.17579531G>A	ExAC,TOPMed,gnomAD
COSM4830058	p.Glu441Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17579536G>A	NCI-TCGA Cosmic
rs372871690	p.Phe443Ile	missense variant	-	NC_000019.10:g.17579542T>A	ESP,ExAC,TOPMed,gnomAD
rs768662193	p.Lys445Glu	missense variant	-	NC_000019.10:g.17579548A>G	ExAC,gnomAD
rs923408975	p.Arg446Lys	missense variant	-	NC_000019.10:g.17579552G>A	TOPMed,gnomAD
rs550488314	p.Arg446Gly	missense variant	-	NC_000019.10:g.17579551A>G	1000Genomes
rs947577811	p.Arg447Cys	missense variant	-	NC_000019.10:g.17579554C>T	TOPMed
rs774477102	p.Arg447His	missense variant	-	NC_000019.10:g.17579555G>A	ExAC,TOPMed,gnomAD
rs1039204810	p.Leu448Met	missense variant	-	NC_000019.10:g.17579557C>A	TOPMed,gnomAD
rs139965300	p.Asn450Lys	missense variant	-	NC_000019.10:g.17579565C>G	ESP,ExAC,TOPMed,gnomAD
rs766999283	p.Leu451Val	missense variant	-	NC_000019.10:g.17579566C>G	ExAC,gnomAD
rs750076793	p.Met452Val	missense variant	-	NC_000019.10:g.17579569A>G	ExAC,TOPMed,gnomAD
rs766057963	p.Met452Ile	missense variant	-	NC_000019.10:g.17579571G>C	ExAC,gnomAD
rs145353960	p.Met452Thr	missense variant	-	NC_000019.10:g.17579570T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs572639404	p.Arg453Trp	missense variant	-	NC_000019.10:g.17579572C>T	ExAC,TOPMed,gnomAD
rs572639404	p.Arg453Gly	missense variant	-	NC_000019.10:g.17579572C>G	ExAC,TOPMed,gnomAD
rs1398248558	p.Arg453Gln	missense variant	-	NC_000019.10:g.17579573G>A	gnomAD
rs745798315	p.Glu456Lys	missense variant	-	NC_000019.10:g.17579581G>A	ExAC,TOPMed,gnomAD
rs745798315	p.Glu456Gln	missense variant	-	NC_000019.10:g.17579581G>C	ExAC,TOPMed,gnomAD
rs139673867	p.Arg457Gln	missense variant	-	NC_000019.10:g.17579585G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1467876864	p.Arg457Trp	missense variant	-	NC_000019.10:g.17579584C>T	TOPMed
rs777777218	p.Gly459Val	missense variant	-	NC_000019.10:g.17579591G>T	ExAC,TOPMed,gnomAD
rs777777218	p.Gly459Asp	missense variant	-	NC_000019.10:g.17579591G>A	ExAC,TOPMed,gnomAD
rs552521030	p.Asp463His	missense variant	-	NC_000019.10:g.17579602G>C	1000Genomes,ExAC,gnomAD
rs200972241	p.Ile465Met	missense variant	-	NC_000019.10:g.17580699C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1442454780	p.Val467Ala	missense variant	-	NC_000019.10:g.17580704T>C	gnomAD
rs776263718	p.Arg469Gln	missense variant	-	NC_000019.10:g.17580710G>A	ExAC,gnomAD
rs372205260	p.Arg469Trp	missense variant	-	NC_000019.10:g.17580709C>T	ESP,ExAC,TOPMed,gnomAD
rs1297678804	p.Arg471Pro	missense variant	-	NC_000019.10:g.17580716G>C	TOPMed,gnomAD
rs1297678804	p.Arg471Gln	missense variant	-	NC_000019.10:g.17580716G>A	TOPMed,gnomAD
rs1226022092	p.Arg471Trp	missense variant	-	NC_000019.10:g.17580715C>T	TOPMed,gnomAD
rs961695783	p.Met472Ile	missense variant	-	NC_000019.10:g.17580720G>A	TOPMed
rs1243857109	p.Gln473His	missense variant	-	NC_000019.10:g.17580723G>C	gnomAD
rs1243857109	p.Gln473His	missense variant	-	NC_000019.10:g.17580723G>T	gnomAD
rs1307829046	p.Gln473Pro	missense variant	-	NC_000019.10:g.17580722A>C	gnomAD
rs759245476	p.Val474Leu	missense variant	-	NC_000019.10:g.17580724G>T	ExAC
rs759245476	p.Val474Met	missense variant	-	NC_000019.10:g.17580724G>A	ExAC
rs1263892481	p.Glu475Asp	missense variant	-	NC_000019.10:g.17580729G>T	gnomAD
rs775767986	p.His476Tyr	missense variant	-	NC_000019.10:g.17580730C>T	ExAC,gnomAD
rs763410653	p.Pro477Leu	missense variant	-	NC_000019.10:g.17580734C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro477Ser	missense variant	-	NC_000019.10:g.17580733C>T	NCI-TCGA
rs752144490	p.Glu478Lys	missense variant	-	NC_000019.10:g.17580736G>A	ExAC,TOPMed,gnomAD
COSM3692494	p.Ala480Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17580742G>A	NCI-TCGA Cosmic
rs149223760	p.Ala480Val	missense variant	-	NC_000019.10:g.17580743C>T	ESP,ExAC,TOPMed,gnomAD
COSM4929547	p.Pro482Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17580748C>T	NCI-TCGA Cosmic
rs377549471	p.Pro482Leu	missense variant	-	NC_000019.10:g.17580749C>T	ESP,ExAC,TOPMed,gnomAD
rs377549471	p.Pro482Arg	missense variant	-	NC_000019.10:g.17580749C>G	ESP,ExAC,TOPMed,gnomAD
rs780452836	p.Arg483His	missense variant	-	NC_000019.10:g.17580752G>A	ExAC,gnomAD
rs756336332	p.Arg483Cys	missense variant	-	NC_000019.10:g.17580751C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val484Leu	missense variant	-	NC_000019.10:g.17580754G>T	NCI-TCGA
rs758262050	p.Arg485Thr	missense variant	-	NC_000019.10:g.17580758G>C	ExAC,gnomAD
rs201797838	p.Val488Leu	missense variant	-	NC_000019.10:g.17580766G>T	1000Genomes
rs777542070	p.Ala490Thr	missense variant	-	NC_000019.10:g.17580772G>A	ExAC,gnomAD
rs770416761	p.Asp491Asn	missense variant	-	NC_000019.10:g.17580775G>A	ExAC,gnomAD
rs200469379	p.Tyr492Ter	stop gained	-	NC_000019.10:g.17580780T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1395237650	p.Tyr492Cys	missense variant	-	NC_000019.10:g.17580779A>G	gnomAD
rs954634522	p.Tyr492Asp	missense variant	-	NC_000019.10:g.17580778T>G	TOPMed
rs1336694035	p.Ser493Phe	missense variant	-	NC_000019.10:g.17580782C>T	gnomAD
rs745389689	p.Tyr494Ter	stop gained	-	NC_000019.10:g.17580786C>G	ExAC,gnomAD
COSM1391493	p.Trp495Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.17580788G>A	NCI-TCGA Cosmic
rs1242159524	p.Thr496Ser	missense variant	-	NC_000019.10:g.17580791C>G	TOPMed,gnomAD
rs1483171068	p.Tyr499His	missense variant	-	NC_000019.10:g.17580799T>C	gnomAD
rs1180636570	p.Tyr499Cys	missense variant	-	NC_000019.10:g.17580800A>G	gnomAD
rs1416255380	p.Val500Met	missense variant	-	NC_000019.10:g.17580802G>A	gnomAD
rs368380442	p.Ala506Ser	missense variant	-	NC_000019.10:g.17580820G>T	ESP,ExAC,TOPMed,gnomAD
rs368380442	p.Ala506Thr	missense variant	-	NC_000019.10:g.17580820G>A	ESP,ExAC,TOPMed,gnomAD
rs183198845	p.Arg507Cys	missense variant	-	NC_000019.10:g.17580823C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201380344	p.Arg507His	missense variant	-	NC_000019.10:g.17580824G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs183198845	p.Arg507Gly	missense variant	-	NC_000019.10:g.17580823C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200075346	p.Lys508Arg	missense variant	-	NC_000019.10:g.17580827A>G	ESP,ExAC,TOPMed,gnomAD
rs140576945	p.Leu509Val	missense variant	-	NC_000019.10:g.17580829C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748819009	p.Leu510Pro	missense variant	-	NC_000019.10:g.17580833T>C	gnomAD
rs533405537	p.Ala511Pro	missense variant	-	NC_000019.10:g.17580835G>C	1000Genomes,ExAC,gnomAD
rs757122399	p.Glu513Lys	missense variant	-	NC_000019.10:g.17580841G>A	ExAC,TOPMed,gnomAD
rs1225686967	p.Pro514Leu	missense variant	-	NC_000019.10:g.17580845C>T	gnomAD
rs534491656	p.Lys517Arg	missense variant	-	NC_000019.10:g.17580854A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs779565570	p.Met518Ile	missense variant	-	NC_000019.10:g.17580858G>A	ExAC
rs1283590940	p.Glu523Lys	missense variant	-	NC_000019.10:g.17580871G>A	TOPMed
rs895305181	p.Phe524Ile	missense variant	-	NC_000019.10:g.17580874T>A	TOPMed
rs774707314	p.Pro526Leu	missense variant	-	NC_000019.10:g.17580881C>T	ExAC,gnomAD
rs1250615889	p.Pro526Ser	missense variant	-	NC_000019.10:g.17580880C>T	gnomAD
rs537124242	p.Val527Ile	missense variant	-	NC_000019.10:g.17580883G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766548989	p.Met528Ile	missense variant	-	NC_000019.10:g.17580888G>T	ExAC,gnomAD
rs766548989	p.Met528Ile	missense variant	-	NC_000019.10:g.17580888G>A	ExAC,gnomAD
rs137941571	p.Met528Thr	missense variant	-	NC_000019.10:g.17580887T>C	ESP,ExAC,TOPMed
rs1420092002	p.Phe529Val	missense variant	-	NC_000019.10:g.17580889T>G	TOPMed
rs543254139	p.Asp530Asn	missense variant	-	NC_000019.10:g.17580892G>A	-
rs759748599	p.Lys531Arg	missense variant	-	NC_000019.10:g.17580896A>G	ExAC,gnomAD
rs374956374	p.Lys531Glu	missense variant	-	NC_000019.10:g.17580895A>G	ESP,ExAC,TOPMed,gnomAD
rs1444573398	p.His532Arg	missense variant	-	NC_000019.10:g.17580899A>G	gnomAD
rs1348147265	p.His532Gln	missense variant	-	NC_000019.10:g.17580900C>G	TOPMed,gnomAD
NCI-TCGA novel	p.His532Tyr	missense variant	-	NC_000019.10:g.17580898C>T	NCI-TCGA
rs754493620	p.Ser535Cys	missense variant	-	NC_000019.10:g.17581179C>G	ExAC,TOPMed,gnomAD
rs754493620	p.Ser535Tyr	missense variant	-	NC_000019.10:g.17581179C>A	ExAC,TOPMed,gnomAD
rs754493620	p.Ser535Phe	missense variant	-	NC_000019.10:g.17581179C>T	ExAC,TOPMed,gnomAD
rs1316826822	p.Glu536Lys	missense variant	-	NC_000019.10:g.17581181G>A	TOPMed,gnomAD
rs1328771100	p.His540Tyr	missense variant	-	NC_000019.10:g.17581193C>T	gnomAD
rs758823019	p.Phe541Tyr	missense variant	-	NC_000019.10:g.17581197T>A	ExAC,TOPMed,gnomAD
rs142410173	p.Phe541Leu	missense variant	-	NC_000019.10:g.17581196T>C	ESP,ExAC,TOPMed,gnomAD
rs138362382	p.Arg544Cys	missense variant	-	NC_000019.10:g.17581205C>T	ESP,ExAC,TOPMed,gnomAD
rs149240687	p.Arg544His	missense variant	-	NC_000019.10:g.17581206G>A	ESP,ExAC,TOPMed,gnomAD
rs777029758	p.Asn545Lys	missense variant	-	NC_000019.10:g.17581210C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu546Met	missense variant	-	NC_000019.10:g.17581211C>A	NCI-TCGA
rs745941882	p.His547Arg	missense variant	-	NC_000019.10:g.17581215A>G	ExAC,TOPMed,gnomAD
rs1365315232	p.His547Gln	missense variant	-	NC_000019.10:g.17581216T>G	TOPMed
NCI-TCGA novel	p.Glu552Lys	missense variant	-	NC_000019.10:g.17581229G>A	NCI-TCGA
rs769807437	p.Pro553Leu	missense variant	-	NC_000019.10:g.17581233C>T	ExAC,TOPMed,gnomAD
rs960376578	p.Pro553Ser	missense variant	-	NC_000019.10:g.17581232C>T	TOPMed
rs1190294942	p.Leu555Phe	missense variant	-	NC_000019.10:g.17581238C>T	gnomAD
NCI-TCGA novel	p.Leu555Ile	missense variant	-	NC_000019.10:g.17581238C>A	NCI-TCGA
rs1418918339	p.Tyr557His	missense variant	-	NC_000019.10:g.17581244T>C	gnomAD
rs201511712	p.His560Arg	missense variant	-	NC_000019.10:g.17581254A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1314602609	p.Tyr561His	missense variant	-	NC_000019.10:g.17581256T>C	TOPMed,gnomAD
rs1353362356	p.Gly563Glu	missense variant	-	NC_000019.10:g.17581263G>A	TOPMed
NCI-TCGA novel	p.Gly563Ter	stop gained	-	NC_000019.10:g.17581262G>T	NCI-TCGA
rs148480974	p.Asp565Asn	missense variant	-	NC_000019.10:g.17581268G>A	ESP,ExAC,gnomAD
rs753758390	p.Asp565Gly	missense variant	-	NC_000019.10:g.17581269A>G	ExAC,gnomAD
rs375037939	p.Val568Met	missense variant	-	NC_000019.10:g.17581277G>A	ESP,ExAC,TOPMed,gnomAD
rs1355773052	p.Asp570Val	missense variant	-	NC_000019.10:g.17581284A>T	gnomAD
rs368414076	p.Thr571Ser	missense variant	-	NC_000019.10:g.17581287C>G	ESP,ExAC,gnomAD
rs752270162	p.Thr571Ala	missense variant	-	NC_000019.10:g.17581286A>G	ExAC,gnomAD
rs147181442	p.Glu572Ter	stop gained	-	NC_000019.10:g.17581289G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147181442	p.Glu572Lys	missense variant	-	NC_000019.10:g.17581289G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746433476	p.Thr573Ser	missense variant	-	NC_000019.10:g.17581292A>T	ExAC,TOPMed,gnomAD
rs187492977	p.Val576Leu	missense variant	-	NC_000019.10:g.17581301G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs187492977	p.Val576Leu	missense variant	-	NC_000019.10:g.17581301G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs187492977	p.Val576Ile	missense variant	-	NC_000019.10:g.17581301G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1179950598	p.Trp577Ter	stop gained	-	NC_000019.10:g.17581305G>A	gnomAD
rs568261637	p.Asn579Ser	missense variant	-	NC_000019.10:g.17581311A>G	1000Genomes,ExAC,gnomAD
rs1436967771	p.Val582Gly	missense variant	-	NC_000019.10:g.17581320T>G	gnomAD
rs550646432	p.Val582Ile	missense variant	-	NC_000019.10:g.17581319G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765270297	p.Lys583Glu	missense variant	-	NC_000019.10:g.17581322A>G	ExAC,gnomAD
rs752215186	p.Thr584Ile	missense variant	-	NC_000019.10:g.17581326C>T	ExAC,TOPMed,gnomAD
rs766288463	p.Asp585Asn	missense variant	-	NC_000019.10:g.17581328G>A	gnomAD
rs1333113131	p.Trp586Ter	stop gained	-	NC_000019.10:g.17581333G>A	TOPMed
rs1336985665	p.Trp586Ser	missense variant	-	NC_000019.10:g.17581332G>C	TOPMed,gnomAD
rs539028568	p.Arg588His	missense variant	-	NC_000019.10:g.17581338G>A	1000Genomes,ExAC,gnomAD
rs151059482	p.Arg588Gly	missense variant	-	NC_000019.10:g.17581337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151059482	p.Arg588Cys	missense variant	-	NC_000019.10:g.17581337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750800935	p.Ala589Thr	missense variant	-	NC_000019.10:g.17581340G>A	ExAC,gnomAD
rs750800935	p.Ala589Ser	missense variant	-	NC_000019.10:g.17581340G>T	ExAC,gnomAD
rs1317392671	p.Ser591Cys	missense variant	-	NC_000019.10:g.17581347C>G	TOPMed
rs1280711567	p.Gln592Ter	stop gained	-	NC_000019.10:g.17581349C>T	gnomAD
rs756570607	p.Lys593Asn	missense variant	-	NC_000019.10:g.17581354G>C	ExAC,gnomAD
rs1194266433	p.Met594Ile	missense variant	-	NC_000019.10:g.17581357G>A	TOPMed,gnomAD
rs754846924	p.Arg595Trp	missense variant	-	NC_000019.10:g.17581358C>T	ExAC,TOPMed,gnomAD
rs754846924	p.Arg595Gly	missense variant	-	NC_000019.10:g.17581358C>G	ExAC,TOPMed,gnomAD
rs552916371	p.Arg595Gln	missense variant	-	NC_000019.10:g.17581359G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM711233	p.Gln597Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.17581364C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln597His	missense variant	-	NC_000019.10:g.17581366G>T	NCI-TCGA
rs1393355697	p.Gln598Glu	missense variant	-	NC_000019.10:g.17581367C>G	gnomAD
rs373290053	p.Ala599Thr	missense variant	-	NC_000019.10:g.17581370G>A	ESP,ExAC,TOPMed,gnomAD
rs373290053	p.Ala599Ser	missense variant	-	NC_000019.10:g.17581370G>T	ESP,ExAC,TOPMed,gnomAD
rs944782088	p.Leu600Met	missense variant	-	NC_000019.10:g.17581373C>A	TOPMed,gnomAD
rs535742636	p.Arg602Gly	missense variant	-	NC_000019.10:g.17581379C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs535742636	p.Arg602Cys	missense variant	-	NC_000019.10:g.17581379C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769808117	p.Arg602His	missense variant	-	NC_000019.10:g.17581380G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg602Leu	missense variant	-	NC_000019.10:g.17581380G>T	NCI-TCGA
rs1165604188	p.Glu603Ter	stop gained	-	NC_000019.10:g.17581382G>T	TOPMed
rs775620377	p.Ala604Gly	missense variant	-	NC_000019.10:g.17581386C>G	ExAC,gnomAD
COSM992828	p.Lys605Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17581390G>T	NCI-TCGA Cosmic
rs1398261959	p.Lys605Arg	missense variant	-	NC_000019.10:g.17581389A>G	TOPMed,gnomAD
rs762523562	p.Ser607Ala	missense variant	-	NC_000019.10:g.17581394T>G	ExAC,gnomAD
rs763767262	p.Ser607Leu	missense variant	-	NC_000019.10:g.17581395C>T	ExAC,gnomAD
rs1197722027	p.Asp608Gly	missense variant	-	NC_000019.10:g.17581398A>G	TOPMed
rs1304121207	p.Val609Met	missense variant	-	NC_000019.10:g.17581400G>A	TOPMed,gnomAD
rs767227467	p.Leu610Pro	missense variant	-	NC_000019.10:g.17581404T>C	ExAC,gnomAD
rs1329284949	p.Gln611Pro	missense variant	-	NC_000019.10:g.17581407A>C	gnomAD
rs1340240194	p.Ser612Phe	missense variant	-	NC_000019.10:g.17581410C>T	gnomAD
rs780505630	p.Pro613Thr	missense variant	-	NC_000019.10:g.17581412C>A	ExAC,TOPMed,gnomAD
rs1194775069	p.Asp615Gly	missense variant	-	NC_000019.10:g.17581419A>G	gnomAD
rs1248006105	p.Ser616Gly	missense variant	-	NC_000019.10:g.17581421A>G	gnomAD
rs111892870	p.Ser616Ile	missense variant	-	NC_000019.10:g.17581422G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs544405232	p.Arg619Trp	missense variant	-	NC_000019.10:g.17581430C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs139708290	p.Arg619Gln	missense variant	-	NC_000019.10:g.17581431G>A	ESP,ExAC,TOPMed,gnomAD
rs544405232	p.Arg619Gly	missense variant	-	NC_000019.10:g.17581430C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1441577866	p.Asp620Val	missense variant	-	NC_000019.10:g.17581434A>T	TOPMed
rs758509722	p.Asp620Tyr	missense variant	-	NC_000019.10:g.17581433G>T	ExAC,TOPMed,gnomAD
rs758509722	p.Asp620Asn	missense variant	-	NC_000019.10:g.17581433G>A	ExAC,TOPMed,gnomAD
rs1399522621	p.Glu621Lys	missense variant	-	NC_000019.10:g.17581436G>A	TOPMed
rs778081101	p.Glu621Asp	missense variant	-	NC_000019.10:g.17581438A>C	ExAC,gnomAD
rs745638027	p.Leu622Pro	missense variant	-	NC_000019.10:g.17581440T>C	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0027404	Narcolepsy	disease	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0050211	procollagen galactosyltransferase activity	IBA
GO:0050211	procollagen galactosyltransferase activity	IMP
GO:0050211	procollagen galactosyltransferase activity	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:1904028	positive regulation of collagen fibril organization	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005788	endoplasmic reticulum lumen	IDA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0016020	membrane	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474290	Collagen formation	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one affects the expression of COLGALT1 mRNA	19946333
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	TP53 protein affects the reaction [2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one affects the expression of COLGALT1 mRNA]	19946333
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 increased expression of COLGALT1 mRNA	19150397
C496492	abrine	abrine results in decreased expression of COLGALT1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of COLGALT1 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of COLGALT1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of COLGALT1 intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of COLGALT1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of COLGALT1 gene	25304211
D001280	Atrazine	Atrazine results in decreased expression of COLGALT1 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of COLGALT1 mRNA	22378314
C547126	AZM551248	AZM551248 results in increased expression of COLGALT1 mRNA	22323515
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of COLGALT1 intron	30157460
C006780	bisphenol A	bisphenol A results in decreased methylation of COLGALT1 intron	30906313
C006780	bisphenol A	bisphenol A affects the expression of COLGALT1 mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of COLGALT1 mRNA	25047013
C006780	bisphenol A	bisphenol A affects the expression of COLGALT1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of COLGALT1 mRNA	24988533
C018475	butyraldehyde	butyraldehyde results in decreased expression of COLGALT1 mRNA	26079696
D002994	Clofibrate	Clofibrate results in decreased expression of COLGALT1 mRNA	17585979
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of COLGALT1 mRNA	15467011
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of COLGALT1 mRNA	23914054
D004041	Dietary Fats	Dietary Fats results in increased expression of COLGALT1 mRNA	28031460
D004237	Diuron	Diuron results in decreased expression of COLGALT1 mRNA	25152437
C039281	furan	furan results in increased methylation of COLGALT1 gene	22079235
C008261	lead acetate	lead acetate results in increased expression of COLGALT1 mRNA	21829687
D008701	Methapyrilene	Methapyrilene results in increased methylation of COLGALT1 intron	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of COLGALT1 mRNA	26011545
D009151	Mustard Gas	Mustard Gas results in decreased expression of COLGALT1 mRNA	25102026
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of COLGALT1 mRNA	25554681
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of COLGALT1 mRNA	19812364
C028007	nickel monoxide	nickel monoxide results in increased expression of COLGALT1 mRNA	19167457
C045362	prochloraz	prochloraz results in increased expression of COLGALT1 mRNA	21470553
C017947	sodium arsenite	sodium arsenite results in decreased expression of COLGALT1 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in increased expression of COLGALT1 mRNA	29361514
D012999	Soman	Soman results in increased expression of COLGALT1 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in decreased expression of COLGALT1 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of COLGALT1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COLGALT1 mRNA	19465110
D014415	Tunicamycin	Tunicamycin results in decreased expression of COLGALT1 mRNA	22378314

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0325	Glycoprotein
KW-0328	Glycosyltransferase
KW-1185	Reference proteome
KW-0732	Signal
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR002654	Glyco_trans_25
IPR029044	Nucleotide-diphossugar_trans

PROSITE

PROSITE ID	PROSITE Term
PS00014	ER_TARGET

Pfam

Pfam ID	Pfam Term
PF01755	Glyco_transf_25

Gene: COLGALT1

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