CleftGeneDB-Search

Tag	Content
Uniprot ID	M0R2V0
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000472821
Ensembl nucleotide ID	ENSG00000105509
Gene name	Hyaluronan synthase 1
Gene symbol	HAS1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MPLPFPSRSQ QDAPKPTPAA CRCSGLARRV LTIAFALLIL GLMTWAYAAG VPLASDRYGL 60 LAFGLYGAFL SAHLVAQSLF AYLEHRRVAA AARGPLDAAT ARSVALTISA YQEDPAYLRQ 120 CLASARALLY PRARLRVLMV VDGNRAEDLY MVDMFREVFA DEDPATYVWD GNYHQPWEPA 180 AAGAVGAGAY REVEAEDPGR LAVEALVRTR RCVCVAQRWG GKREVMYTAF KALGDSVDYV 240 QVCDSDTRLD PMALLELVRV LDEDPRVGAV GGDVRILNPL DSWVSFLSSL RYWVAFNVER 300 ACQSYFHCVS CISGPLGLYR NNLLQQFLEA WYNQKFLGTH CTFGDDRHLT NRMLSMGYAT 360 KYTSRSRCYS ETPSSFLRWL SQQTRWSKSY FREWLYNALW WHRHHAWMTY EAVVSGLFPF 420 FVAATVLRLF YAGRPWALLW VLLCVQGVAL AKAAFAAWLR GCLRMVLLSL YAPLYMCGLL 480 PAKFLALVTM NQSGWGTSGR RKLAANYVPL LPLALWALLL LGGLVRSVAH EARADWSGPS 540 RAAEAYHLAA GAGAYVGYWV AMLTLYWVGV RRLCRRRTGG YRVQV 585

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	HAS1		A0A452FT40		Capra hircus	Prediction	More>>
1:1 ortholog	HAS1		M0R2V0		Homo sapiens	Prediction	More>>
1:1 ortholog	Has1	15116	Q61647	CPO	Mus musculus	Publication	More>>
1:1 ortholog	HAS1	468978	A0A2I3TFP5		Pan troglodytes	Prediction	More>>
1:1 ortholog	Has1	282821	Q8CH93		Rattus norvegicus	Prediction	More>>
1:1 ortholog	has1	403130	X1WCR3		Danio rerio	Prediction	More>>

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs148624449	p.Pro2Leu	missense variant	-	NC_000019.10:g.51719924G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148624449	p.Pro2His	missense variant	-	NC_000019.10:g.51719924G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148624449	p.Pro2Arg	missense variant	-	NC_000019.10:g.51719924G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365304121	p.Arg8Cys	missense variant	-	NC_000019.10:g.51719907G>A	gnomAD
rs750030433	p.Arg8His	missense variant	-	NC_000019.10:g.51719906C>T	ExAC,gnomAD
rs1437161952	p.Ser9Phe	missense variant	-	NC_000019.10:g.51719903G>A	gnomAD
rs764850348	p.Gln10Lys	missense variant	-	NC_000019.10:g.51719901G>T	ExAC,gnomAD
rs1456263630	p.Gln11Ter	stop gained	-	NC_000019.10:g.51719898G>A	gnomAD
rs1431789224	p.Asp12Gly	missense variant	-	NC_000019.10:g.51719894T>C	gnomAD
rs536327922	p.Asp12Asn	missense variant	-	NC_000019.10:g.51719895C>T	1000Genomes,TOPMed,gnomAD
rs1424967285	p.Ala13Thr	missense variant	-	NC_000019.10:g.51719892C>T	gnomAD
rs865807912	p.Ala13Glu	missense variant	-	NC_000019.10:g.51719891G>T	gnomAD
rs1424967285	p.Ala13Ser	missense variant	-	NC_000019.10:g.51719892C>A	gnomAD
rs1479266226	p.Pro14Ser	missense variant	-	NC_000019.10:g.51719889G>A	TOPMed,gnomAD
rs1465402531	p.Pro16Ser	missense variant	-	NC_000019.10:g.51719883G>A	gnomAD
rs372499286	p.Pro16Leu	missense variant	-	NC_000019.10:g.51719882G>A	ESP,ExAC,TOPMed,gnomAD
rs1310189224	p.Thr17Asn	missense variant	-	NC_000019.10:g.51719879G>T	gnomAD
rs1387446571	p.Pro18Leu	missense variant	-	NC_000019.10:g.51719876G>A	TOPMed,gnomAD
rs753575106	p.Pro18Ser	missense variant	-	NC_000019.10:g.51719877G>A	ExAC
rs1277608783	p.Ala19Val	missense variant	-	NC_000019.10:g.51719873G>A	gnomAD
rs1373021044	p.Ala20Val	missense variant	-	NC_000019.10:g.51719870G>A	gnomAD
rs764154491	p.Ala20Thr	missense variant	-	NC_000019.10:g.51719871C>T	ExAC,TOPMed,gnomAD
rs7248778	p.Cys21Arg	missense variant	-	NC_000019.10:g.51719868A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365367701	p.Cys21Tyr	missense variant	-	NC_000019.10:g.51719867C>T	gnomAD
rs1290244653	p.Arg22Ser	missense variant	-	NC_000019.10:g.51719865G>T	gnomAD
rs1372477092	p.Cys23Gly	missense variant	-	NC_000019.10:g.51719862A>C	TOPMed
rs775720322	p.Cys23Ter	stop gained	-	NC_000019.10:g.51719860G>T	ExAC,gnomAD
rs1358248057	p.Cys23Tyr	missense variant	-	NC_000019.10:g.51719861C>T	gnomAD
rs1436982033	p.Ser24Tyr	missense variant	-	NC_000019.10:g.51719858G>T	gnomAD
rs1188555928	p.Gly25Ser	missense variant	-	NC_000019.10:g.51719856C>T	gnomAD
rs1450147097	p.Gly25Asp	missense variant	-	NC_000019.10:g.51719855C>T	gnomAD
rs1238284293	p.Ala27Thr	missense variant	-	NC_000019.10:g.51719850C>T	gnomAD
rs1210482320	p.Ala27Asp	missense variant	-	NC_000019.10:g.51719849G>T	gnomAD
rs189092221	p.Arg28Gly	missense variant	-	NC_000019.10:g.51719847G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs189092221	p.Arg28Trp	missense variant	-	NC_000019.10:g.51719847G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1227635183	p.Arg28Gln	missense variant	-	NC_000019.10:g.51719846C>T	gnomAD
rs1297044128	p.Arg29Gly	missense variant	-	NC_000019.10:g.51719844T>C	gnomAD
rs1393814525	p.Arg29Met	missense variant	-	NC_000019.10:g.51719843C>A	gnomAD
rs1416999355	p.Thr32Ile	missense variant	-	NC_000019.10:g.51719834G>A	gnomAD
rs982116393	p.Ala34Val	missense variant	-	NC_000019.10:g.51719828G>A	gnomAD
rs982116393	p.Ala34Asp	missense variant	-	NC_000019.10:g.51719828G>T	gnomAD
rs945398316	p.Leu38Phe	missense variant	-	NC_000019.10:g.51719817G>A	TOPMed,gnomAD
rs749727848	p.Ile39Ser	missense variant	-	NC_000019.10:g.51719813A>C	ExAC,gnomAD
rs749727848	p.Ile39Asn	missense variant	-	NC_000019.10:g.51719813A>T	ExAC,gnomAD
rs777986310	p.Met43Lys	missense variant	-	NC_000019.10:g.51719801A>T	ExAC,gnomAD
rs1414795486	p.Met43Val	missense variant	-	NC_000019.10:g.51719802T>C	gnomAD
rs748534994	p.Trp45Cys	missense variant	-	NC_000019.10:g.51719794C>A	ExAC,TOPMed,gnomAD
rs201563187	p.Trp45Leu	missense variant	-	NC_000019.10:g.51719795C>A	ExAC,TOPMed,gnomAD
rs1486517062	p.Trp45Arg	missense variant	-	NC_000019.10:g.51719796A>T	TOPMed,gnomAD
rs532860063	p.Ala46Val	missense variant	-	NC_000019.10:g.51719792G>A	1000Genomes,ExAC,gnomAD
rs757954153	p.Tyr47Ter	stop gained	-	NC_000019.10:g.51719788G>C	ExAC,gnomAD
rs747124267	p.Tyr47Cys	missense variant	-	NC_000019.10:g.51719789T>C	TOPMed
rs1256372726	p.Ala49Val	missense variant	-	NC_000019.10:g.51719783G>A	TOPMed
rs866388647	p.Gly50Trp	missense variant	-	NC_000019.10:g.51719781C>A	gnomAD
rs866388647	p.Gly50Arg	missense variant	-	NC_000019.10:g.51719781C>T	gnomAD
rs749903902	p.Val51Met	missense variant	-	NC_000019.10:g.51719778C>T	ExAC,gnomAD
rs1234795609	p.Pro52Arg	missense variant	-	NC_000019.10:g.51719774G>C	gnomAD
rs1307760292	p.Leu53Pro	missense variant	-	NC_000019.10:g.51719771A>G	gnomAD
rs1410846982	p.Ala54Thr	missense variant	-	NC_000019.10:g.51719769C>T	gnomAD
rs1292362654	p.Ser55Phe	missense variant	-	NC_000019.10:g.51719765G>A	gnomAD
rs1369177527	p.Asp56Glu	missense variant	-	NC_000019.10:g.51719761A>C	gnomAD
rs1389285381	p.Arg57Cys	missense variant	-	NC_000019.10:g.51719760G>A	TOPMed
rs1167331319	p.Tyr58His	missense variant	-	NC_000019.10:g.51719757A>G	gnomAD
rs1411533205	p.Gly59Asp	missense variant	-	NC_000019.10:g.51719753C>T	gnomAD
rs1450076013	p.Gly59Ser	missense variant	-	NC_000019.10:g.51719754C>T	TOPMed
rs1248820285	p.Ala62Val	missense variant	-	NC_000019.10:g.51719744G>A	TOPMed,gnomAD
rs1248820285	p.Ala62Asp	missense variant	-	NC_000019.10:g.51719744G>T	TOPMed,gnomAD
rs1210699688	p.Phe63Leu	missense variant	-	NC_000019.10:g.51719740G>C	gnomAD
rs763732815	p.Tyr66Ser	missense variant	-	NC_000019.10:g.51719732T>G	ExAC,gnomAD
rs763732815	p.Tyr66Cys	missense variant	-	NC_000019.10:g.51719732T>C	ExAC,gnomAD
rs756111781	p.Gly67Glu	missense variant	-	NC_000019.10:g.51719729C>T	ExAC,gnomAD
rs1403243873	p.Ala72Glu	missense variant	-	NC_000019.10:g.51719714G>T	TOPMed
rs767537813	p.His73Asn	missense variant	-	NC_000019.10:g.51719712G>T	ExAC,TOPMed,gnomAD
rs867224861	p.Leu74Val	missense variant	-	NC_000019.10:g.51719709G>C	gnomAD
rs867224861	p.Leu74Met	missense variant	-	NC_000019.10:g.51719709G>T	gnomAD
rs759725408	p.Gln77His	missense variant	-	NC_000019.10:g.51719698C>G	ExAC
rs774565151	p.Ser78Arg	missense variant	-	NC_000019.10:g.51719695G>C	ExAC,gnomAD
rs773628225	p.Tyr82Cys	missense variant	-	NC_000019.10:g.51719684T>C	ExAC,gnomAD
rs1386746208	p.Leu83Val	missense variant	-	NC_000019.10:g.51719682G>C	gnomAD
rs1392119779	p.His85Tyr	missense variant	-	NC_000019.10:g.51719676G>A	TOPMed,gnomAD
rs1029222101	p.Arg86Gln	missense variant	-	NC_000019.10:g.51719672C>T	TOPMed,gnomAD
rs1029222101	p.Arg86Leu	missense variant	-	NC_000019.10:g.51719672C>A	TOPMed,gnomAD
rs1454106346	p.Arg87Trp	missense variant	-	NC_000019.10:g.51719670G>A	gnomAD
rs981832532	p.Val88Ala	missense variant	-	NC_000019.10:g.51719666A>G	TOPMed,gnomAD
rs981832532	p.Val88Gly	missense variant	-	NC_000019.10:g.51719666A>C	TOPMed,gnomAD
rs1206433419	p.Ala89Val	missense variant	-	NC_000019.10:g.51719663G>A	TOPMed
rs1253565120	p.Ala90Pro	missense variant	-	NC_000019.10:g.51719661C>G	gnomAD
rs769147211	p.Ala91Val	missense variant	-	NC_000019.10:g.51719657G>A	ExAC,TOPMed,gnomAD
rs1026879054	p.Ala91Pro	missense variant	-	NC_000019.10:g.51719658C>G	TOPMed
rs769147211	p.Ala91Glu	missense variant	-	NC_000019.10:g.51719657G>T	ExAC,TOPMed,gnomAD
rs1205406505	p.Ala92Thr	missense variant	-	NC_000019.10:g.51719655C>T	gnomAD
rs995831215	p.Gly94Arg	missense variant	-	NC_000019.10:g.51719649C>G	TOPMed,gnomAD
rs745444651	p.Pro95Ser	missense variant	-	NC_000019.10:g.51719646G>A	ExAC
rs1432982307	p.Asp97Val	missense variant	-	NC_000019.10:g.51719639T>A	gnomAD
rs58496877	p.Ala99Val	missense variant	-	NC_000019.10:g.51719633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1321433892	p.Thr100Ile	missense variant	-	NC_000019.10:g.51719630G>A	TOPMed,gnomAD
rs1400368491	p.Ala101Glu	missense variant	-	NC_000019.10:g.51719627G>T	TOPMed,gnomAD
rs756942910	p.Ala101Thr	missense variant	-	NC_000019.10:g.51719628C>T	ExAC
rs1170536716	p.Arg102Leu	missense variant	-	NC_000019.10:g.51719624C>A	gnomAD
rs563352546	p.Ser103Arg	missense variant	-	NC_000019.10:g.51719620A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs755907544	p.Val104Met	missense variant	-	NC_000019.10:g.51719619C>T	ExAC,TOPMed,gnomAD
rs1226199823	p.Ala105Ser	missense variant	-	NC_000019.10:g.51719616C>A	TOPMed
rs1329639804	p.Ala105Glu	missense variant	-	NC_000019.10:g.51719615G>T	TOPMed
rs1329639804	p.Ala105Val	missense variant	-	NC_000019.10:g.51719615G>A	TOPMed
rs751700570	p.Thr107Ser	missense variant	-	NC_000019.10:g.51719609G>C	ExAC,TOPMed,gnomAD
rs1210413353	p.Thr107Ala	missense variant	-	NC_000019.10:g.51719610T>C	TOPMed
rs751700570	p.Thr107Ile	missense variant	-	NC_000019.10:g.51719609G>A	ExAC,TOPMed,gnomAD
rs1488156952	p.Ile108Ser	missense variant	-	NC_000019.10:g.51719606A>C	TOPMed
rs748532709	p.Ala110Thr	missense variant	-	NC_000019.10:g.51719601C>T	TOPMed,gnomAD
rs544953513	p.Tyr111Phe	missense variant	-	NC_000019.10:g.51719597T>A	1000Genomes,ExAC
rs906603323	p.Ala116Thr	missense variant	-	NC_000019.10:g.51719583C>T	gnomAD
rs1200168302	p.Ala116Gly	missense variant	-	NC_000019.10:g.51719582G>C	TOPMed,gnomAD
rs1283069684	p.Tyr117Phe	missense variant	-	NC_000019.10:g.51719579T>A	gnomAD
rs1226899966	p.Leu118Arg	missense variant	-	NC_000019.10:g.51719576A>C	gnomAD
rs373808928	p.Arg119Ser	missense variant	-	NC_000019.10:g.51719574G>T	ESP,ExAC,TOPMed,gnomAD
rs1348494850	p.Leu122Pro	missense variant	-	NC_000019.10:g.51719564A>G	TOPMed
rs1433002351	p.Ser124Cys	missense variant	-	NC_000019.10:g.51719558G>C	gnomAD
rs370739665	p.Arg126Cys	missense variant	-	NC_000019.10:g.51719553G>A	ExAC,TOPMed,gnomAD
rs370739665	p.Arg126Gly	missense variant	-	NC_000019.10:g.51719553G>C	ExAC,TOPMed,gnomAD
rs370739665	p.Arg126Ser	missense variant	-	NC_000019.10:g.51719553G>T	ExAC,TOPMed,gnomAD
rs1395225396	p.Ala127Ser	missense variant	-	NC_000019.10:g.51719550C>A	gnomAD
rs1314613205	p.Tyr130His	missense variant	-	NC_000019.10:g.51719541A>G	gnomAD
rs372785460	p.Tyr130Ser	missense variant	-	NC_000019.10:g.51719540T>G	ESP,ExAC,TOPMed,gnomAD
rs1389505004	p.Pro131Gln	missense variant	-	NC_000019.10:g.51719537G>T	TOPMed,gnomAD
rs1167931448	p.Arg132Cys	missense variant	-	NC_000019.10:g.51719535G>A	TOPMed,gnomAD
rs200445289	p.Ala133Thr	missense variant	-	NC_000019.10:g.51719532C>T	1000Genomes,TOPMed,gnomAD
rs1366346615	p.Ala133Val	missense variant	-	NC_000019.10:g.51719531G>A	TOPMed,gnomAD
rs917919976	p.Arg134Pro	missense variant	-	NC_000019.10:g.51719528C>G	TOPMed,gnomAD
rs1482984255	p.Leu135Met	missense variant	-	NC_000019.10:g.51719526G>T	gnomAD
rs1274331016	p.Arg136Leu	missense variant	-	NC_000019.10:g.51719522C>A	TOPMed,gnomAD
rs1354406773	p.Val137Asp	missense variant	-	NC_000019.10:g.51719519A>T	gnomAD
rs867157763	p.Val137Phe	missense variant	-	NC_000019.10:g.51719520C>A	TOPMed,gnomAD
rs1357638398	p.Met139Val	missense variant	-	NC_000019.10:g.51719514T>C	gnomAD
rs1314433976	p.Val140Leu	missense variant	-	NC_000019.10:g.51719511C>G	TOPMed,gnomAD
rs769167568	p.Gly143Ser	missense variant	-	NC_000019.10:g.51719502C>T	ExAC,TOPMed,gnomAD
rs202029733	p.Arg145His	missense variant	-	NC_000019.10:g.51719495C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1411138606	p.Ala146Thr	missense variant	-	NC_000019.10:g.51719493C>T	gnomAD
rs1306949855	p.Glu147Gly	missense variant	-	NC_000019.10:g.51719489T>C	TOPMed
rs982955527	p.Asp148His	missense variant	-	NC_000019.10:g.51719487C>G	gnomAD
rs982955527	p.Asp148Asn	missense variant	-	NC_000019.10:g.51719487C>T	gnomAD
rs1475305732	p.Leu149Phe	missense variant	-	NC_000019.10:g.51719484G>A	gnomAD
rs1419594076	p.Leu149His	missense variant	-	NC_000019.10:g.51719483A>T	gnomAD
rs1472508608	p.Tyr150His	missense variant	-	NC_000019.10:g.51719481A>G	gnomAD
rs748805696	p.Met151Ile	missense variant	-	NC_000019.10:g.51719476C>G	ExAC,gnomAD
rs533830163	p.Met151Val	missense variant	-	NC_000019.10:g.51719478T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1281999229	p.Val152Leu	missense variant	-	NC_000019.10:g.51719475C>G	TOPMed
rs1289191504	p.Asp153Ala	missense variant	-	NC_000019.10:g.51719471T>G	TOPMed,gnomAD
rs1289191504	p.Asp153Gly	missense variant	-	NC_000019.10:g.51719471T>C	TOPMed,gnomAD
rs1204343944	p.Met154Lys	missense variant	-	NC_000019.10:g.51719468A>T	TOPMed
rs1214422260	p.Met154Ile	missense variant	-	NC_000019.10:g.51719467C>T	TOPMed,gnomAD
rs1204343944	p.Met154Thr	missense variant	-	NC_000019.10:g.51719468A>G	TOPMed
rs777326196	p.Arg156His	missense variant	-	NC_000019.10:g.51719462C>T	ExAC,TOPMed,gnomAD
rs777326196	p.Arg156Leu	missense variant	-	NC_000019.10:g.51719462C>A	ExAC,TOPMed,gnomAD
rs1235901573	p.Glu157Ter	stop gained	-	NC_000019.10:g.51719460C>A	TOPMed
rs748011855	p.Glu162Ter	stop gained	-	NC_000019.10:g.51719445C>A	ExAC,gnomAD
rs781074459	p.Glu162Val	missense variant	-	NC_000019.10:g.51719444T>A	ExAC,gnomAD
rs1280041388	p.Asp163Glu	missense variant	-	NC_000019.10:g.51719440G>T	gnomAD
rs1444337804	p.Pro164Thr	missense variant	-	NC_000019.10:g.51719439G>T	gnomAD
rs1444337804	p.Pro164Ser	missense variant	-	NC_000019.10:g.51719439G>A	gnomAD
rs1322248170	p.Ala165Ser	missense variant	-	NC_000019.10:g.51719436C>A	gnomAD
rs1461516115	p.Ala165Val	missense variant	-	NC_000019.10:g.51719435G>A	gnomAD
rs1182853444	p.Thr166Arg	missense variant	-	NC_000019.10:g.51719432G>C	TOPMed
rs1448266801	p.Val168Glu	missense variant	-	NC_000019.10:g.51719426A>T	TOPMed
rs758448344	p.Val168Leu	missense variant	-	NC_000019.10:g.51719427C>A	ExAC,TOPMed,gnomAD
rs758448344	p.Val168Met	missense variant	-	NC_000019.10:g.51719427C>T	ExAC,TOPMed,gnomAD
rs750511594	p.Gly171Val	missense variant	-	NC_000019.10:g.51719417C>A	ExAC,gnomAD
rs1168450962	p.Asn172Tyr	missense variant	-	NC_000019.10:g.51719415T>A	TOPMed
rs765437667	p.Asn172Ser	missense variant	-	NC_000019.10:g.51719414T>C	ExAC,gnomAD
rs1246651108	p.Tyr173Asp	missense variant	-	NC_000019.10:g.51719412A>C	TOPMed,gnomAD
rs1246651108	p.Tyr173Asn	missense variant	-	NC_000019.10:g.51719412A>T	TOPMed,gnomAD
rs202173515	p.His174Gln	missense variant	-	NC_000019.10:g.51719407G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs894394916	p.Gln175Lys	missense variant	-	NC_000019.10:g.51719406G>T	gnomAD
rs1266458958	p.Gln175Pro	missense variant	-	NC_000019.10:g.51719405T>G	gnomAD
rs894394916	p.Gln175Ter	stop gained	-	NC_000019.10:g.51719406G>A	gnomAD
rs1208395485	p.Trp177Arg	missense variant	-	NC_000019.10:g.51719400A>G	gnomAD
rs1316082360	p.Trp177Ter	stop gained	-	NC_000019.10:g.51719399C>T	gnomAD
rs1284644379	p.Glu178Lys	missense variant	-	NC_000019.10:g.51719397C>T	TOPMed,gnomAD
rs754208574	p.Pro179His	missense variant	-	NC_000019.10:g.51719393G>T	ExAC,gnomAD
rs1342708474	p.Ala180Val	missense variant	-	NC_000019.10:g.51719390G>A	gnomAD
rs554437003	p.Ala184Thr	missense variant	-	NC_000019.10:g.51719379C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1429544334	p.Gly188Arg	missense variant	-	NC_000019.10:g.51719367C>T	gnomAD
rs1345443435	p.Gly188Val	missense variant	-	NC_000019.10:g.51719366C>A	gnomAD
rs772596332	p.Ala189Thr	missense variant	-	NC_000019.10:g.51719364C>T	ExAC,TOPMed,gnomAD
rs762435007	p.Tyr190Phe	missense variant	-	NC_000019.10:g.51719360T>A	ExAC,TOPMed,gnomAD
rs1174881551	p.Arg191Pro	missense variant	-	NC_000019.10:g.51719357C>G	gnomAD
rs1002679135	p.Val193Gly	missense variant	-	NC_000019.10:g.51719351A>C	gnomAD
rs772761968	p.Val193Leu	missense variant	-	NC_000019.10:g.51719352C>A	ExAC,gnomAD
rs1002679135	p.Val193Ala	missense variant	-	NC_000019.10:g.51719351A>G	gnomAD
rs1486287270	p.Ala195Val	missense variant	-	NC_000019.10:g.51719345G>A	TOPMed,gnomAD
rs1486287270	p.Ala195Gly	missense variant	-	NC_000019.10:g.51719345G>C	TOPMed,gnomAD
rs1217676447	p.Glu196Asp	missense variant	-	NC_000019.10:g.51719341C>A	gnomAD
rs1310282531	p.Asp197Glu	missense variant	-	NC_000019.10:g.51719338A>T	gnomAD
rs747733820	p.Pro198Ser	missense variant	-	NC_000019.10:g.51719337G>A	ExAC,TOPMed,gnomAD
rs747733820	p.Pro198Ala	missense variant	-	NC_000019.10:g.51719337G>C	ExAC,TOPMed,gnomAD
rs768521219	p.Arg200Gln	missense variant	-	NC_000019.10:g.51719330C>T	ExAC,gnomAD
rs1362136678	p.Ala202Ser	missense variant	-	NC_000019.10:g.51719325C>A	gnomAD
rs746790040	p.Val203Met	missense variant	-	NC_000019.10:g.51719322C>T	ExAC,gnomAD
rs1473788726	p.Glu204Gln	missense variant	-	NC_000019.10:g.51719319C>G	gnomAD
rs757504132	p.Arg210Cys	missense variant	-	NC_000019.10:g.51719301G>A	ExAC,TOPMed,gnomAD
rs1429267430	p.Arg210His	missense variant	-	NC_000019.10:g.51719300C>T	TOPMed,gnomAD
rs761064565	p.Val213Leu	missense variant	-	NC_000019.10:g.51719292C>G	ExAC,gnomAD
rs753097128	p.Cys214Ser	missense variant	-	NC_000019.10:g.51719288C>G	ExAC,gnomAD
rs370795750	p.Val215Leu	missense variant	-	NC_000019.10:g.51719286C>A	ESP,ExAC,TOPMed,gnomAD
rs370795750	p.Val215Met	missense variant	-	NC_000019.10:g.51719286C>T	ESP,ExAC,TOPMed,gnomAD
rs375831712	p.Gln217Ter	stop gained	-	NC_000019.10:g.51719280G>A	ESP,ExAC,TOPMed,gnomAD
rs1272399534	p.Gln217Arg	missense variant	-	NC_000019.10:g.51719279T>C	gnomAD
rs374038790	p.Arg218Ser	missense variant	-	NC_000019.10:g.51719277G>T	ESP,ExAC,TOPMed,gnomAD
rs769387541	p.Arg218His	missense variant	-	NC_000019.10:g.51719276C>T	ExAC,gnomAD
rs761579314	p.Trp219Leu	missense variant	-	NC_000019.10:g.51719273C>A	ExAC,gnomAD
rs1226296232	p.Trp219Gly	missense variant	-	NC_000019.10:g.51719274A>C	TOPMed,gnomAD
rs148796716	p.Gly220Val	missense variant	-	NC_000019.10:g.51719270C>A	ESP,ExAC,TOPMed,gnomAD
rs568930180	p.Lys222Asn	missense variant	-	NC_000019.10:g.51719263C>G	1000Genomes,ExAC,gnomAD
rs568930180	p.Lys222Asn	missense variant	-	NC_000019.10:g.51719263C>A	1000Genomes,ExAC,gnomAD
rs771909540	p.Arg223Pro	missense variant	-	NC_000019.10:g.51719261C>G	ExAC,TOPMed,gnomAD
rs949986992	p.Arg223Gly	missense variant	-	NC_000019.10:g.51719262G>C	TOPMed,gnomAD
rs778990103	p.Glu224Asp	missense variant	-	NC_000019.10:g.51719257C>G	ExAC,TOPMed,gnomAD
rs200667452	p.Val225Ile	missense variant	-	NC_000019.10:g.51719256C>T	ESP,ExAC,TOPMed,gnomAD
rs144360076	p.Met226Thr	missense variant	-	NC_000019.10:g.51719252A>G	ESP,ExAC,TOPMed,gnomAD
rs1418866059	p.Met226Val	missense variant	-	NC_000019.10:g.51719253T>C	gnomAD
rs778031457	p.Met226Ile	missense variant	-	NC_000019.10:g.51719251C>T	ExAC,TOPMed,gnomAD
rs756343125	p.Tyr227Asn	missense variant	-	NC_000019.10:g.51719250A>T	ExAC,gnomAD
rs755469539	p.Thr228Ile	missense variant	-	NC_000019.10:g.51719246G>A	ExAC,TOPMed,gnomAD
rs767853866	p.Thr228Ala	missense variant	-	NC_000019.10:g.51719247T>C	ExAC,gnomAD
rs555126388	p.Ala229Asp	missense variant	-	NC_000019.10:g.51719243G>T	ExAC,TOPMed,gnomAD
rs555126388	p.Ala229Gly	missense variant	-	NC_000019.10:g.51719243G>C	ExAC,TOPMed,gnomAD
rs761482836	p.Phe230Leu	missense variant	-	NC_000019.10:g.51719239G>C	ExAC,gnomAD
rs11558146	p.Lys231Arg	missense variant	-	NC_000019.10:g.51719237T>C	ExAC,TOPMed,gnomAD
rs1456358067	p.Ala232Glu	missense variant	-	NC_000019.10:g.51719234G>T	TOPMed
rs550695209	p.Gly234Arg	missense variant	-	NC_000019.10:g.51719229C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1309628554	p.Ser236Leu	missense variant	-	NC_000019.10:g.51719222G>A	TOPMed,gnomAD
rs1322739264	p.Ser236Pro	missense variant	-	NC_000019.10:g.51719223A>G	TOPMed
rs1309628554	p.Ser236Trp	missense variant	-	NC_000019.10:g.51719222G>C	TOPMed,gnomAD
rs1306883226	p.Asp238Asn	missense variant	-	NC_000019.10:g.51719217C>T	gnomAD
rs775182179	p.Val240Met	missense variant	-	NC_000019.10:g.51719211C>T	ExAC,TOPMed,gnomAD
rs775182179	p.Val240Leu	missense variant	-	NC_000019.10:g.51719211C>G	ExAC,TOPMed,gnomAD
rs1295059854	p.Val242Ile	missense variant	-	NC_000019.10:g.51717193C>T	TOPMed
rs1200959123	p.Asp244Gly	missense variant	-	NC_000019.10:g.51717186T>C	TOPMed
rs376113074	p.Asp244His	missense variant	-	NC_000019.10:g.51717187C>G	ESP,ExAC,TOPMed,gnomAD
rs143266369	p.Ser245Leu	missense variant	-	NC_000019.10:g.51717183G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143266369	p.Ser245Trp	missense variant	-	NC_000019.10:g.51717183G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1234251716	p.Asp246Asn	missense variant	-	NC_000019.10:g.51717181C>T	gnomAD
rs759438598	p.Arg248Gly	missense variant	-	NC_000019.10:g.51717175T>C	ExAC,TOPMed,gnomAD
rs1226288844	p.Asp250Asn	missense variant	-	NC_000019.10:g.51717169C>T	TOPMed,gnomAD
rs774116413	p.Met252Val	missense variant	-	NC_000019.10:g.51717163T>C	ExAC,gnomAD
rs770866299	p.Ala253Thr	missense variant	-	NC_000019.10:g.51717160C>T	ExAC,TOPMed,gnomAD
rs78761398	p.Leu257Phe	missense variant	-	NC_000019.10:g.51717148G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750095254	p.Val258Met	missense variant	-	NC_000019.10:g.51717145C>T	ExAC,TOPMed,gnomAD
rs75142551	p.Arg259Gln	missense variant	-	NC_000019.10:g.51717141C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781516429	p.Arg259Trp	missense variant	-	NC_000019.10:g.51717142G>A	ExAC,TOPMed,gnomAD
rs1474179749	p.Val260Leu	missense variant	-	NC_000019.10:g.51717139C>A	gnomAD
rs1372133879	p.Asp262Val	missense variant	-	NC_000019.10:g.51717132T>A	TOPMed,gnomAD
rs759007645	p.Glu263Ter	stop gained	-	NC_000019.10:g.51717130C>A	ExAC,TOPMed,gnomAD
rs759007645	p.Glu263Lys	missense variant	-	NC_000019.10:g.51717130C>T	ExAC,TOPMed,gnomAD
rs750914461	p.Asp264Glu	missense variant	-	NC_000019.10:g.51717125G>T	ExAC,gnomAD
rs779268942	p.Pro265Leu	missense variant	-	NC_000019.10:g.51717123G>A	ExAC,gnomAD
rs147158919	p.Arg266Gly	missense variant	-	NC_000019.10:g.51717121G>C	ESP,ExAC,TOPMed,gnomAD
rs147158919	p.Arg266Trp	missense variant	-	NC_000019.10:g.51717121G>A	ESP,ExAC,TOPMed,gnomAD
rs530794115	p.Arg266Gln	missense variant	-	NC_000019.10:g.51717120C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372673212	p.Val267Leu	missense variant	-	NC_000019.10:g.51717118C>G	ExAC,TOPMed,gnomAD
rs372673212	p.Val267Ile	missense variant	-	NC_000019.10:g.51717118C>T	ExAC,TOPMed,gnomAD
rs554817156	p.Ala269Thr	missense variant	-	NC_000019.10:g.51717112C>T	ExAC,TOPMed,gnomAD
rs764755611	p.Val270Leu	missense variant	-	NC_000019.10:g.51717109C>G	ExAC,gnomAD
rs764755611	p.Val270Ile	missense variant	-	NC_000019.10:g.51717109C>T	ExAC,gnomAD
rs1214541129	p.Gly271Cys	missense variant	-	NC_000019.10:g.51717106C>A	TOPMed
rs1395191832	p.Asp273Ala	missense variant	-	NC_000019.10:g.51717099T>G	TOPMed,gnomAD
rs1395191832	p.Asp273Val	missense variant	-	NC_000019.10:g.51717099T>A	TOPMed,gnomAD
rs768928691	p.Val274Met	missense variant	-	NC_000019.10:g.51717097C>T	ExAC,TOPMed,gnomAD
rs137939869	p.Arg275Gln	missense variant	-	NC_000019.10:g.51717093C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs948729841	p.Arg275Trp	missense variant	-	NC_000019.10:g.51717094G>A	TOPMed,gnomAD
rs772616275	p.Ile276Phe	missense variant	-	NC_000019.10:g.51717091T>A	ExAC,TOPMed,gnomAD
rs772616275	p.Ile276Leu	missense variant	-	NC_000019.10:g.51717091T>G	ExAC,TOPMed,gnomAD
rs746207145	p.Ile276Thr	missense variant	-	NC_000019.10:g.51717090A>G	ExAC,gnomAD
rs772616275	p.Ile276Val	missense variant	-	NC_000019.10:g.51717091T>C	ExAC,TOPMed,gnomAD
rs752261227	p.Asn278Lys	missense variant	-	NC_000019.10:g.51717083G>T	ExAC,gnomAD
rs780498466	p.Pro279Leu	missense variant	-	NC_000019.10:g.51717081G>A	ExAC,gnomAD
rs1193284149	p.Asp281Gly	missense variant	-	NC_000019.10:g.51717075T>C	gnomAD
rs751162741	p.Val284Ile	missense variant	-	NC_000019.10:g.51717067C>T	ExAC,TOPMed,gnomAD
rs751162741	p.Val284Phe	missense variant	-	NC_000019.10:g.51717067C>A	ExAC,TOPMed,gnomAD
rs1361181939	p.Ser285Cys	missense variant	-	NC_000019.10:g.51717064T>A	TOPMed
rs956193883	p.Ser288Asn	missense variant	-	NC_000019.10:g.51717054C>T	TOPMed
rs1335119558	p.Ser289Ile	missense variant	-	NC_000019.10:g.51717051C>A	gnomAD
rs762776728	p.Arg291Ter	stop gained	-	NC_000019.10:g.51717046G>A	ExAC,TOPMed,gnomAD
rs200078680	p.Arg291Gln	missense variant	-	NC_000019.10:g.51717045C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1163829559	p.Trp293Ter	stop gained	-	NC_000019.10:g.51717038C>T	gnomAD
rs1462272261	p.Phe296Tyr	missense variant	-	NC_000019.10:g.51717030A>T	gnomAD
rs765234716	p.Asn297Ser	missense variant	-	NC_000019.10:g.51717027T>C	ExAC,TOPMed,gnomAD
rs1470025626	p.Glu299Gln	missense variant	-	NC_000019.10:g.51717022C>G	TOPMed,gnomAD
rs150290681	p.Arg300Leu	missense variant	-	NC_000019.10:g.51717018C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761590658	p.Arg300Trp	missense variant	-	NC_000019.10:g.51717019G>A	ExAC,TOPMed,gnomAD
rs150290681	p.Arg300Gln	missense variant	-	NC_000019.10:g.51717018C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150290681	p.Arg300Pro	missense variant	-	NC_000019.10:g.51717018C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1451793541	p.Gln303Leu	missense variant	-	NC_000019.10:g.51717009T>A	TOPMed
rs760818172	p.Ser304Arg	missense variant	-	NC_000019.10:g.51717005G>C	ExAC,gnomAD
rs1043616888	p.Ser304Gly	missense variant	-	NC_000019.10:g.51717007T>C	TOPMed
rs760818172	p.Ser304Arg	missense variant	-	NC_000019.10:g.51717005G>T	ExAC,gnomAD
rs201369230	p.Tyr305His	missense variant	-	NC_000019.10:g.51717004A>G	ExAC,TOPMed,gnomAD
rs201369230	p.Tyr305Asp	missense variant	-	NC_000019.10:g.51717004A>C	ExAC,TOPMed,gnomAD
rs746297042	p.His307Arg	missense variant	-	NC_000019.10:g.51716997T>C	ExAC,TOPMed,gnomAD
rs1421649097	p.Val309Ala	missense variant	-	NC_000019.10:g.51716991A>G	TOPMed
rs541103037	p.Cys311Arg	missense variant	-	NC_000019.10:g.51716986A>G	1000Genomes,ExAC,gnomAD
rs1280134645	p.Ser313Arg	missense variant	-	NC_000019.10:g.51716978G>T	TOPMed,gnomAD
rs771470487	p.Ser313Asn	missense variant	-	NC_000019.10:g.51716979C>T	ExAC,gnomAD
rs780774711	p.Gly314Asp	missense variant	-	NC_000019.10:g.51716976C>T	ExAC,TOPMed,gnomAD
rs749715354	p.Gly314Ser	missense variant	-	NC_000019.10:g.51716977C>T	ExAC,gnomAD
rs780774711	p.Gly314Val	missense variant	-	NC_000019.10:g.51716976C>A	ExAC,TOPMed,gnomAD
rs1324765570	p.Pro315Ser	missense variant	-	NC_000019.10:g.51716974G>A	gnomAD
rs764188814	p.Gly317Ala	missense variant	-	NC_000019.10:g.51716388C>G	ExAC,gnomAD
rs968322553	p.Tyr319His	missense variant	-	NC_000019.10:g.51716383A>G	TOPMed,gnomAD
rs752824314	p.Tyr319Cys	missense variant	-	NC_000019.10:g.51716382T>C	ExAC,gnomAD
rs767660755	p.Arg320Gly	missense variant	-	NC_000019.10:g.51716380T>C	ExAC,gnomAD
rs1413323016	p.Asn321Ser	missense variant	-	NC_000019.10:g.51716376T>C	gnomAD
rs759824177	p.Leu323Phe	missense variant	-	NC_000019.10:g.51716371G>A	ExAC,gnomAD
rs1237924074	p.Gln325Lys	missense variant	-	NC_000019.10:g.51716365G>T	gnomAD
rs766590139	p.Phe327Leu	missense variant	-	NC_000019.10:g.51716357A>T	ExAC,gnomAD
rs148269958	p.Leu328Phe	missense variant	-	NC_000019.10:g.51716356G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770298418	p.Ala330Gly	missense variant	-	NC_000019.10:g.51716349G>C	ExAC,TOPMed,gnomAD
rs775002954	p.Trp331Cys	missense variant	-	NC_000019.10:g.51716345C>A	ExAC,TOPMed,gnomAD
rs1460319414	p.Trp331Ter	stop gained	-	NC_000019.10:g.51716346C>T	TOPMed
rs745349892	p.Tyr332Ter	stop gained	-	NC_000019.10:g.51716342G>T	ExAC,gnomAD
rs778493834	p.Gln334Ter	stop gained	-	NC_000019.10:g.51716338G>A	ExAC,gnomAD
rs770601650	p.Phe336Leu	missense variant	-	NC_000019.10:g.51716332A>G	ExAC,gnomAD
rs749046036	p.Gly338Asp	missense variant	-	NC_000019.10:g.51716325C>T	ExAC,TOPMed,gnomAD
rs1188628564	p.Gly338Arg	missense variant	-	NC_000019.10:g.51716326C>G	gnomAD
rs1188628564	p.Gly338Ser	missense variant	-	NC_000019.10:g.51716326C>T	gnomAD
rs1448827488	p.Thr339Ile	missense variant	-	NC_000019.10:g.51716322G>A	TOPMed
rs781256537	p.Thr342Ser	missense variant	-	NC_000019.10:g.51716313G>C	ExAC,TOPMed,gnomAD
rs1377011901	p.Phe343Ser	missense variant	-	NC_000019.10:g.51716310A>G	TOPMed
rs1229491233	p.Gly344Arg	missense variant	-	NC_000019.10:g.51716308C>T	gnomAD
rs1313761117	p.Asp345Asn	missense variant	-	NC_000019.10:g.51716305C>T	TOPMed
rs756827225	p.Arg347Gln	missense variant	-	NC_000019.10:g.51716298C>T	ExAC,TOPMed,gnomAD
rs191873019	p.Arg347Trp	missense variant	-	NC_000019.10:g.51716299G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750817116	p.Leu349Ile	missense variant	-	NC_000019.10:g.51716293G>T	ExAC,TOPMed,gnomAD
rs765536727	p.Thr350Asn	missense variant	-	NC_000019.10:g.51716289G>T	ExAC,TOPMed,gnomAD
rs765536727	p.Thr350Ile	missense variant	-	NC_000019.10:g.51716289G>A	ExAC,TOPMed,gnomAD
rs143134241	p.Asn351Ser	missense variant	-	NC_000019.10:g.51716286T>C	ESP,ExAC,TOPMed,gnomAD
rs759023526	p.Arg352Cys	missense variant	-	NC_000019.10:g.51716284G>A	ExAC,TOPMed,gnomAD
rs773850679	p.Arg352His	missense variant	-	NC_000019.10:g.51716283C>T	ExAC,TOPMed,gnomAD
rs759023526	p.Arg352Ser	missense variant	-	NC_000019.10:g.51716284G>T	ExAC,TOPMed,gnomAD
rs1248330368	p.Leu354Phe	missense variant	-	NC_000019.10:g.51716278G>A	gnomAD
rs770490838	p.Ser355Asn	missense variant	-	NC_000019.10:g.51716274C>T	ExAC,gnomAD
rs373362989	p.Met356Ile	missense variant	-	NC_000019.10:g.51716270C>T	ESP,ExAC,TOPMed,gnomAD
rs1239593884	p.Met356Lys	missense variant	-	NC_000019.10:g.51716271A>T	gnomAD
rs777737328	p.Gly357Arg	missense variant	-	NC_000019.10:g.51716269C>G	ExAC,TOPMed,gnomAD
rs747923567	p.Ala359Val	missense variant	-	NC_000019.10:g.51716262G>A	ExAC,gnomAD
rs369174105	p.Ala359Thr	missense variant	-	NC_000019.10:g.51716263C>T	ESP,ExAC,TOPMed,gnomAD
rs1315654887	p.Thr360Ile	missense variant	-	NC_000019.10:g.51716259G>A	gnomAD
rs552959486	p.Lys361Asn	missense variant	-	NC_000019.10:g.51714102C>G	ExAC,TOPMed,gnomAD
rs552959486	p.Lys361Asn	missense variant	-	NC_000019.10:g.51714102C>A	ExAC,TOPMed,gnomAD
rs1356017376	p.Tyr362Cys	missense variant	-	NC_000019.10:g.51714100T>C	TOPMed
rs1280765977	p.Thr363Ile	missense variant	-	NC_000019.10:g.51714097G>A	TOPMed,gnomAD
rs777840555	p.Arg365Ser	missense variant	-	NC_000019.10:g.51714090C>G	ExAC,TOPMed,gnomAD
rs1194163032	p.Arg365Lys	missense variant	-	NC_000019.10:g.51714091C>T	gnomAD
rs756545383	p.Ser366Tyr	missense variant	-	NC_000019.10:g.51714088G>T	ExAC,TOPMed,gnomAD
rs756545383	p.Ser366Phe	missense variant	-	NC_000019.10:g.51714088G>A	ExAC,TOPMed,gnomAD
rs768198571	p.Arg367His	missense variant	-	NC_000019.10:g.51714085C>T	ExAC,gnomAD
rs753002573	p.Arg367Cys	missense variant	-	NC_000019.10:g.51714086G>A	ExAC,TOPMed,gnomAD
rs1414043971	p.Tyr369Cys	missense variant	-	NC_000019.10:g.51714079T>C	TOPMed,gnomAD
rs1414043971	p.Tyr369Phe	missense variant	-	NC_000019.10:g.51714079T>A	TOPMed,gnomAD
rs749958134	p.Ser370Ter	stop gained	-	NC_000019.10:g.51714076G>T	ExAC,gnomAD
rs749958134	p.Ser370Leu	missense variant	-	NC_000019.10:g.51714076G>A	ExAC,gnomAD
rs764800044	p.Thr372Met	missense variant	-	NC_000019.10:g.51714070G>A	ExAC,TOPMed,gnomAD
rs1257203882	p.Pro373Leu	missense variant	-	NC_000019.10:g.51714067G>A	TOPMed
rs140981845	p.Ser374Leu	missense variant	-	NC_000019.10:g.51714064G>A	ESP,ExAC,TOPMed,gnomAD
rs763647290	p.Ser375Pro	missense variant	-	NC_000019.10:g.51714062A>G	ExAC,gnomAD
rs1371813770	p.Phe376Leu	missense variant	-	NC_000019.10:g.51714057G>C	TOPMed
rs760574425	p.Phe376Ser	missense variant	-	NC_000019.10:g.51714058A>G	ExAC,gnomAD
rs372997311	p.Arg378Pro	missense variant	-	NC_000019.10:g.51714052C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372997311	p.Arg378Gln	missense variant	-	NC_000019.10:g.51714052C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1473379062	p.Arg378Trp	missense variant	-	NC_000019.10:g.51714053G>A	gnomAD
rs372997311	p.Arg378Leu	missense variant	-	NC_000019.10:g.51714052C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1411067636	p.Leu380Arg	missense variant	-	NC_000019.10:g.51714046A>C	TOPMed,gnomAD
rs746343903	p.Leu380Val	missense variant	-	NC_000019.10:g.51714047G>C	ExAC,TOPMed,gnomAD
rs369018422	p.Gln382Ter	stop gained	-	NC_000019.10:g.51714041G>A	ESP,gnomAD
rs1238990208	p.Gln382His	missense variant	-	NC_000019.10:g.51714039C>G	gnomAD
rs1200716890	p.Thr384Arg	missense variant	-	NC_000019.10:g.51714034G>C	gnomAD
rs548919286	p.Arg385Gly	missense variant	-	NC_000019.10:g.51714032G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs966863884	p.Arg385His	missense variant	-	NC_000019.10:g.51714031C>T	TOPMed,gnomAD
rs548919286	p.Arg385Ser	missense variant	-	NC_000019.10:g.51714032G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548919286	p.Arg385Cys	missense variant	-	NC_000019.10:g.51714032G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771052418	p.Trp386Arg	missense variant	-	NC_000019.10:g.51714029A>G	ExAC,gnomAD
rs1227541341	p.Ser387Phe	missense variant	-	NC_000019.10:g.51714025G>A	gnomAD
rs1226798193	p.Lys388Glu	missense variant	-	NC_000019.10:g.51714023T>C	TOPMed
rs536238533	p.Ser389Leu	missense variant	-	NC_000019.10:g.51714019G>A	gnomAD
rs748560541	p.Arg392Cys	missense variant	-	NC_000019.10:g.51714011G>A	ExAC,TOPMed,gnomAD
rs1391854917	p.Tyr396Ter	stop gained	-	NC_000019.10:g.51713997G>T	gnomAD
rs781636410	p.Asn397Asp	missense variant	-	NC_000019.10:g.51713996T>C	ExAC,gnomAD
rs1279852039	p.Ala398Thr	missense variant	-	NC_000019.10:g.51713993C>T	TOPMed
rs1416565464	p.Ala398Glu	missense variant	-	NC_000019.10:g.51713992G>T	gnomAD
rs1416565464	p.Ala398Gly	missense variant	-	NC_000019.10:g.51713992G>C	gnomAD
rs780675552	p.Trp400Gly	missense variant	-	NC_000019.10:g.51713987A>C	ExAC,gnomAD
rs1380945551	p.Trp401Ter	stop gained	-	NC_000019.10:g.51713982C>T	gnomAD
rs1470104221	p.Trp401Arg	missense variant	-	NC_000019.10:g.51713984A>T	gnomAD
rs140592950	p.Arg403Trp	missense variant	-	NC_000019.10:g.51713978G>A	ESP,ExAC,TOPMed,gnomAD
rs763818520	p.His404Gln	missense variant	-	NC_000019.10:g.51713973G>C	ExAC,TOPMed,gnomAD
rs763818520	p.His404Gln	missense variant	-	NC_000019.10:g.51713973G>T	ExAC,TOPMed,gnomAD
rs767247063	p.Ala406Glu	missense variant	-	NC_000019.10:g.51713968G>T	ExAC,gnomAD
rs752565606	p.Ala406Ser	missense variant	-	NC_000019.10:g.51713969C>A	ExAC,TOPMed,gnomAD
rs767247063	p.Ala406Val	missense variant	-	NC_000019.10:g.51713968G>A	ExAC,gnomAD
rs752565606	p.Ala406Thr	missense variant	-	NC_000019.10:g.51713969C>T	ExAC,TOPMed,gnomAD
rs774316632	p.Trp407Arg	missense variant	-	NC_000019.10:g.51713966A>G	ExAC,gnomAD
rs770854402	p.Trp407Ter	stop gained	-	NC_000019.10:g.51713965C>T	ExAC,gnomAD
rs763153477	p.Met408Ile	missense variant	-	NC_000019.10:g.51713961C>G	ExAC,gnomAD
rs1289468576	p.Thr409Ser	missense variant	-	NC_000019.10:g.51713959G>C	gnomAD
rs1368329840	p.Thr409Ala	missense variant	-	NC_000019.10:g.51713960T>C	gnomAD
rs770062149	p.Tyr410His	missense variant	-	NC_000019.10:g.51713957A>G	ExAC,gnomAD
rs748279257	p.Tyr410Cys	missense variant	-	NC_000019.10:g.51713956T>C	ExAC,gnomAD
rs1361739783	p.Glu411Gly	missense variant	-	NC_000019.10:g.51713953T>C	gnomAD
rs769183113	p.Glu411Lys	missense variant	-	NC_000019.10:g.51713954C>T	ExAC,TOPMed,gnomAD
rs1160531490	p.Glu411Asp	missense variant	-	NC_000019.10:g.51713952C>G	gnomAD
rs747374174	p.Ala412Glu	missense variant	-	NC_000019.10:g.51713950G>T	ExAC,TOPMed,gnomAD
rs747374174	p.Ala412Val	missense variant	-	NC_000019.10:g.51713950G>A	ExAC,TOPMed,gnomAD
rs758772752	p.Val413Met	missense variant	-	NC_000019.10:g.51713948C>T	ExAC,TOPMed,gnomAD
rs1329764280	p.Ser415Thr	missense variant	-	NC_000019.10:g.51713942A>T	gnomAD
rs1286732298	p.Pro419Ser	missense variant	-	NC_000019.10:g.51713930G>A	TOPMed,gnomAD
rs755808630	p.Phe420Cys	missense variant	-	NC_000019.10:g.51713926A>C	ExAC,TOPMed,gnomAD
rs1345170731	p.Phe421Leu	missense variant	-	NC_000019.10:g.51713924A>G	gnomAD
rs767130367	p.Val422Glu	missense variant	-	NC_000019.10:g.51713920A>T	ExAC,gnomAD
rs45625331	p.Val422Met	missense variant	-	NC_000019.10:g.51713921C>T	1000Genomes,ESP,ExAC,TOPMed
rs754838593	p.Ala423Val	missense variant	-	NC_000019.10:g.51713917G>A	ExAC,gnomAD
rs754838593	p.Ala423Gly	missense variant	-	NC_000019.10:g.51713917G>C	ExAC,gnomAD
rs751344880	p.Ala424Thr	missense variant	-	NC_000019.10:g.51713915C>T	ExAC,gnomAD
rs766356840	p.Thr425Ser	missense variant	-	NC_000019.10:g.51713911G>C	ExAC,gnomAD
rs1268720009	p.Thr425Ala	missense variant	-	NC_000019.10:g.51713912T>C	TOPMed,gnomAD
rs1300645780	p.Val426Met	missense variant	-	NC_000019.10:g.51713909C>T	TOPMed,gnomAD
rs1416323528	p.Arg428His	missense variant	-	NC_000019.10:g.51713902C>T	gnomAD
rs1176908583	p.Arg428Cys	missense variant	-	NC_000019.10:g.51713903G>A	TOPMed,gnomAD
rs1176908583	p.Arg428Gly	missense variant	-	NC_000019.10:g.51713903G>C	TOPMed,gnomAD
rs765181371	p.Phe430Leu	missense variant	-	NC_000019.10:g.51713895G>C	ExAC,TOPMed,gnomAD
rs1466785335	p.Tyr431His	missense variant	-	NC_000019.10:g.51713894A>G	TOPMed
rs777058982	p.Ala432Val	missense variant	-	NC_000019.10:g.51713890G>A	ExAC,gnomAD
rs1253250103	p.Gly433Ala	missense variant	-	NC_000019.10:g.51713887C>G	TOPMed
rs747388837	p.Arg434Cys	missense variant	-	NC_000019.10:g.51713885G>A	ExAC,gnomAD
rs746309017	p.Pro435Arg	missense variant	-	NC_000019.10:g.51713881G>C	ExAC,gnomAD
rs199522998	p.Pro435Ser	missense variant	-	NC_000019.10:g.51713882G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779448854	p.Trp436Ter	stop gained	-	NC_000019.10:g.51713878C>T	ExAC,gnomAD
rs1319091456	p.Ala437Thr	missense variant	-	NC_000019.10:g.51713876C>T	gnomAD
rs34682338	p.Ala437Val	missense variant	-	NC_000019.10:g.51713875G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1020102953	p.Leu439Pro	missense variant	-	NC_000019.10:g.51713869A>G	TOPMed,gnomAD
rs775898159	p.Trp440Ser	missense variant	-	NC_000019.10:g.51713866C>G	ExAC,TOPMed,gnomAD
rs1368579986	p.Trp440Cys	missense variant	-	NC_000019.10:g.51713865C>G	TOPMed
rs775898159	p.Trp440Ter	stop gained	-	NC_000019.10:g.51713866C>T	ExAC,TOPMed,gnomAD
rs780885474	p.Val441Met	missense variant	-	NC_000019.10:g.51713864C>T	ExAC,TOPMed,gnomAD
rs199734719	p.Val441Ala	missense variant	-	NC_000019.10:g.51713863A>G	ESP,ExAC,TOPMed,gnomAD
rs540354288	p.Cys444Trp	missense variant	-	NC_000019.10:g.51713853G>C	1000Genomes,TOPMed
rs370273566	p.Cys444Tyr	missense variant	-	NC_000019.10:g.51713854C>T	ESP,ExAC,TOPMed,gnomAD
rs370273566	p.Cys444Phe	missense variant	-	NC_000019.10:g.51713854C>A	ESP,ExAC,TOPMed,gnomAD
rs1172575155	p.Val445Ala	missense variant	-	NC_000019.10:g.51713851A>G	TOPMed,gnomAD
rs1474147973	p.Gln446Ter	stop gained	-	NC_000019.10:g.51713849G>A	gnomAD
rs750377912	p.Gln446His	missense variant	-	NC_000019.10:g.51713847C>G	ExAC,TOPMed,gnomAD
rs945513495	p.Gly447Ala	missense variant	-	NC_000019.10:g.51713845C>G	gnomAD
rs945513495	p.Gly447Asp	missense variant	-	NC_000019.10:g.51713845C>T	gnomAD
rs1230790474	p.Val448Met	missense variant	-	NC_000019.10:g.51713843C>T	gnomAD
rs1457948563	p.Ala449Val	missense variant	-	NC_000019.10:g.51713839G>A	gnomAD
rs762041267	p.Ala449Thr	missense variant	-	NC_000019.10:g.51713840C>T	ExAC,gnomAD
rs776792545	p.Leu450Val	missense variant	-	NC_000019.10:g.51713837G>C	ExAC
rs1260328744	p.Leu450Pro	missense variant	-	NC_000019.10:g.51713836A>G	gnomAD
rs760936739	p.Ala451Ser	missense variant	-	NC_000019.10:g.51713834C>A	ExAC
rs777620987	p.Ala453Val	missense variant	-	NC_000019.10:g.51713827G>A	ExAC,gnomAD
rs774791350	p.Ala454Thr	missense variant	-	NC_000019.10:g.51713825C>T	ExAC,gnomAD
rs771460252	p.Ala454Val	missense variant	-	NC_000019.10:g.51713824G>A	ExAC,gnomAD
rs747673611	p.Phe455Ser	missense variant	-	NC_000019.10:g.51713821A>G	ExAC,gnomAD
rs780617707	p.Ala456Glu	missense variant	-	NC_000019.10:g.51713818G>T	ExAC,TOPMed,gnomAD
rs1447720912	p.Ala456Thr	missense variant	-	NC_000019.10:g.51713819C>T	gnomAD
rs746617127	p.Ala457Ser	missense variant	-	NC_000019.10:g.51713816C>A	ExAC,TOPMed,gnomAD
rs1349210120	p.Ala457Val	missense variant	-	NC_000019.10:g.51713815G>A	gnomAD
rs1350494332	p.Trp458Leu	missense variant	-	NC_000019.10:g.51713812C>A	TOPMed
rs1343493579	p.Trp458Ter	stop gained	-	NC_000019.10:g.51713811C>T	gnomAD
rs201116150	p.Arg460Gln	missense variant	-	NC_000019.10:g.51713806C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150680444	p.Arg460Trp	missense variant	-	NC_000019.10:g.51713807G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201116150	p.Arg460Pro	missense variant	-	NC_000019.10:g.51713806C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs778728927	p.Gly461Ser	missense variant	-	NC_000019.10:g.51713804C>T	ExAC,TOPMed
rs757192303	p.Gly461Asp	missense variant	-	NC_000019.10:g.51713803C>T	ExAC,gnomAD
rs1371308173	p.Cys462Trp	missense variant	-	NC_000019.10:g.51713799G>C	TOPMed,gnomAD
rs535370805	p.Leu463Arg	missense variant	-	NC_000019.10:g.51713797A>C	1000Genomes
rs1354147152	p.Arg464His	missense variant	-	NC_000019.10:g.51713794C>T	TOPMed
rs145577853	p.Arg464Cys	missense variant	-	NC_000019.10:g.51713795G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200754704	p.Met465Leu	missense variant	-	NC_000019.10:g.51713792T>G	1000Genomes,ExAC,TOPMed
rs752898307	p.Val466Gly	missense variant	-	NC_000019.10:g.51713788A>C	ExAC,gnomAD
rs767771608	p.Ser469Ala	missense variant	-	NC_000019.10:g.51713780A>C	ExAC
rs1224375461	p.Ser469Leu	missense variant	-	NC_000019.10:g.51713779G>A	gnomAD
rs538087580	p.Leu470Pro	missense variant	-	NC_000019.10:g.51713776A>G	1000Genomes,ExAC,gnomAD
rs774723725	p.Tyr471Cys	missense variant	-	NC_000019.10:g.51713773T>C	ExAC,gnomAD
rs771434906	p.Ala472Val	missense variant	-	NC_000019.10:g.51713770G>A	ExAC,gnomAD
rs1384837032	p.Pro473Thr	missense variant	-	NC_000019.10:g.51713768G>T	gnomAD
rs1384837032	p.Pro473Ser	missense variant	-	NC_000019.10:g.51713768G>A	gnomAD
rs763413589	p.Pro473Leu	missense variant	-	NC_000019.10:g.51713767G>A	ExAC,gnomAD
rs780839558	p.Leu474His	missense variant	-	NC_000019.10:g.51713764A>T	TOPMed,gnomAD
rs1358547976	p.Tyr475Cys	missense variant	-	NC_000019.10:g.51713761T>C	gnomAD
rs1419838690	p.Met476Ile	missense variant	-	NC_000019.10:g.51713757C>T	TOPMed,gnomAD
rs570540275	p.Met476Leu	missense variant	-	NC_000019.10:g.51713759T>G	1000Genomes,ExAC,gnomAD
rs746492277	p.Cys477Ser	missense variant	-	NC_000019.10:g.51713756A>T	ExAC,gnomAD
rs1196353914	p.Gly478Asp	missense variant	-	NC_000019.10:g.51713752C>T	TOPMed,gnomAD
rs1432267438	p.Leu479Phe	missense variant	-	NC_000019.10:g.51713750G>A	gnomAD
rs771697406	p.Pro481Ser	missense variant	-	NC_000019.10:g.51713744G>A	ExAC,TOPMed,gnomAD
rs771697406	p.Pro481Thr	missense variant	-	NC_000019.10:g.51713744G>T	ExAC,TOPMed,gnomAD
rs771697406	p.Pro481Ala	missense variant	-	NC_000019.10:g.51713744G>C	ExAC,TOPMed,gnomAD
rs552280333	p.Pro481Leu	missense variant	-	NC_000019.10:g.51713743G>A	1000Genomes
rs745653161	p.Ala482Thr	missense variant	-	NC_000019.10:g.51713741C>T	ExAC,TOPMed,gnomAD
rs778727403	p.Ala482Asp	missense variant	-	NC_000019.10:g.51713740G>T	ExAC,TOPMed,gnomAD
rs753873532	p.Phe484Leu	missense variant	-	NC_000019.10:g.51713733G>T	ExAC,TOPMed,gnomAD
rs756325884	p.Ala486Thr	missense variant	-	NC_000019.10:g.51713729C>T	ExAC,gnomAD
rs767651246	p.Ala486Glu	missense variant	-	NC_000019.10:g.51713728G>T	ExAC,gnomAD
rs767651246	p.Ala486Val	missense variant	-	NC_000019.10:g.51713728G>A	ExAC,gnomAD
rs759740307	p.Leu487Pro	missense variant	-	NC_000019.10:g.51713725A>G	ExAC,gnomAD
rs751903070	p.Met490Thr	missense variant	-	NC_000019.10:g.51713716A>G	ExAC,gnomAD
rs140048746	p.Gln492Arg	missense variant	-	NC_000019.10:g.51713710T>C	ESP,ExAC,TOPMed,gnomAD
rs1361849988	p.Ser493Asn	missense variant	-	NC_000019.10:g.51713707C>T	gnomAD
rs1170319947	p.Gly494Val	missense variant	-	NC_000019.10:g.51713704C>A	gnomAD
rs763283798	p.Trp495Ter	stop gained	-	NC_000019.10:g.51713700C>T	ExAC,TOPMed,gnomAD
rs1178675077	p.Gly496Ser	missense variant	-	NC_000019.10:g.51713699C>T	gnomAD
rs1263065139	p.Thr497Ile	missense variant	-	NC_000019.10:g.51713695G>A	gnomAD
rs1194985866	p.Ser498Thr	missense variant	-	NC_000019.10:g.51713693A>T	TOPMed,gnomAD
rs367672882	p.Ser498Leu	missense variant	-	NC_000019.10:g.51713692G>A	ESP,ExAC,gnomAD
rs760115520	p.Gly499Ala	missense variant	-	NC_000019.10:g.51713689C>G	ExAC,TOPMed,gnomAD
rs1318388816	p.Gly499Arg	missense variant	-	NC_000019.10:g.51713690C>G	gnomAD
rs1345968195	p.Arg500Pro	missense variant	-	NC_000019.10:g.51713686C>G	gnomAD
rs1345968195	p.Arg500Leu	missense variant	-	NC_000019.10:g.51713686C>A	gnomAD
rs771653891	p.Arg500Trp	missense variant	-	NC_000019.10:g.51713687G>A	ExAC,TOPMed,gnomAD
rs113145387	p.Arg501Trp	missense variant	-	NC_000019.10:g.51713684G>A	gnomAD
rs1315878380	p.Lys502Met	missense variant	-	NC_000019.10:g.51713680T>A	gnomAD
rs899233860	p.Leu503Gln	missense variant	-	NC_000019.10:g.51713677A>T	TOPMed,gnomAD
rs745475332	p.Ala504Pro	missense variant	-	NC_000019.10:g.51713675C>G	ExAC,TOPMed,gnomAD
rs1342472095	p.Ala505Ser	missense variant	-	NC_000019.10:g.51713672C>A	TOPMed
rs1230097350	p.Ala505Val	missense variant	-	NC_000019.10:g.51713671G>A	TOPMed
rs770886288	p.Asn506Lys	missense variant	-	NC_000019.10:g.51713667G>T	ExAC,TOPMed,gnomAD
rs770886288	p.Asn506Lys	missense variant	-	NC_000019.10:g.51713667G>C	ExAC,TOPMed,gnomAD
rs1304272146	p.Asn506Thr	missense variant	-	NC_000019.10:g.51713668T>G	TOPMed,gnomAD
rs1402446923	p.Asn506Tyr	missense variant	-	NC_000019.10:g.51713669T>A	gnomAD
rs566488407	p.Val508Leu	missense variant	-	NC_000019.10:g.51713663C>G	1000Genomes,gnomAD
rs566488407	p.Val508Ile	missense variant	-	NC_000019.10:g.51713663C>T	1000Genomes,gnomAD
rs1032962089	p.Pro509Leu	missense variant	-	NC_000019.10:g.51713659G>A	TOPMed,gnomAD
rs1171791131	p.Leu510Pro	missense variant	-	NC_000019.10:g.51713656A>G	gnomAD
rs749088191	p.Leu510Val	missense variant	-	NC_000019.10:g.51713657G>C	ExAC,gnomAD
rs1443123248	p.Pro512Thr	missense variant	-	NC_000019.10:g.51713651G>T	gnomAD
rs1196938803	p.Leu513Val	missense variant	-	NC_000019.10:g.51713648G>C	TOPMed,gnomAD
rs777913003	p.Ala514Glu	missense variant	-	NC_000019.10:g.51713644G>T	ExAC,TOPMed,gnomAD
rs777913003	p.Ala514Val	missense variant	-	NC_000019.10:g.51713644G>A	ExAC,TOPMed,gnomAD
rs748183341	p.Leu515Pro	missense variant	-	NC_000019.10:g.51713641A>G	ExAC,gnomAD
rs748183341	p.Leu515His	missense variant	-	NC_000019.10:g.51713641A>T	ExAC,gnomAD
rs756061218	p.Leu515Phe	missense variant	-	NC_000019.10:g.51713642G>A	ExAC,TOPMed,gnomAD
rs906541816	p.Trp516Ter	stop gained	-	NC_000019.10:g.51713637C>T	gnomAD
rs548164990	p.Trp516Ter	stop gained	-	NC_000019.10:g.51713638C>T	1000Genomes,ExAC,gnomAD
rs755181313	p.Ala517Val	missense variant	-	NC_000019.10:g.51713635G>A	ExAC,TOPMed,gnomAD
rs755181313	p.Ala517Glu	missense variant	-	NC_000019.10:g.51713635G>T	ExAC,TOPMed,gnomAD
rs766556467	p.Leu519Arg	missense variant	-	NC_000019.10:g.51713629A>C	ExAC,gnomAD
rs766556467	p.Leu519Pro	missense variant	-	NC_000019.10:g.51713629A>G	ExAC,gnomAD
rs1332449531	p.Leu521Arg	missense variant	-	NC_000019.10:g.51713623A>C	gnomAD
rs1332449531	p.Leu521Pro	missense variant	-	NC_000019.10:g.51713623A>G	gnomAD
rs199658827	p.Gly522Trp	missense variant	-	NC_000019.10:g.51713621C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199658827	p.Gly522Arg	missense variant	-	NC_000019.10:g.51713621C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765735334	p.Gly523Asp	missense variant	-	NC_000019.10:g.51713617C>T	ExAC,TOPMed,gnomAD
rs765735334	p.Gly523Ala	missense variant	-	NC_000019.10:g.51713617C>G	ExAC,TOPMed,gnomAD
rs1163227981	p.Gly523Arg	missense variant	-	NC_000019.10:g.51713618C>G	gnomAD
rs762341890	p.Val528Ile	missense variant	-	NC_000019.10:g.51713603C>T	ExAC,gnomAD
rs774883724	p.Val528Glu	missense variant	-	NC_000019.10:g.51713602A>T	ExAC
rs1053866591	p.His530Gln	missense variant	-	NC_000019.10:g.51713595G>C	TOPMed,gnomAD
rs1300892406	p.His530Arg	missense variant	-	NC_000019.10:g.51713596T>C	TOPMed
rs758933783	p.Glu531Asp	missense variant	-	NC_000019.10:g.51713592C>A	ExAC,TOPMed,gnomAD
rs767100794	p.Glu531Lys	missense variant	-	NC_000019.10:g.51713594C>T	ExAC,TOPMed,gnomAD
rs563221644	p.Ala532Thr	missense variant	-	NC_000019.10:g.51713591C>T	1000Genomes,ExAC,gnomAD
rs770690454	p.Arg533Gly	missense variant	-	NC_000019.10:g.51713588T>C	ExAC,gnomAD
rs375036393	p.Ala534Val	missense variant	-	NC_000019.10:g.51713584G>A	ESP,ExAC,gnomAD
rs375036393	p.Ala534Asp	missense variant	-	NC_000019.10:g.51713584G>T	ESP,ExAC,gnomAD
rs920987958	p.Asp535Asn	missense variant	-	NC_000019.10:g.51713582C>T	TOPMed
rs1316453289	p.Trp536Ser	missense variant	-	NC_000019.10:g.51713578C>G	gnomAD
rs1036821686	p.Trp536Ter	stop gained	-	NC_000019.10:g.51713577C>T	TOPMed,gnomAD
rs943669565	p.Ser537Ile	missense variant	-	NC_000019.10:g.51713575C>A	gnomAD
rs943669565	p.Ser537Asn	missense variant	-	NC_000019.10:g.51713575C>T	gnomAD
rs769655356	p.Ser537Arg	missense variant	-	NC_000019.10:g.51713574G>T	ExAC,gnomAD
rs940904550	p.Pro539Arg	missense variant	-	NC_000019.10:g.51713569G>C	TOPMed
rs780970564	p.Arg541Gly	missense variant	-	NC_000019.10:g.51713564G>C	ExAC,TOPMed,gnomAD
rs887941371	p.Arg541His	missense variant	-	NC_000019.10:g.51713563C>T	TOPMed
rs780970564	p.Arg541Ser	missense variant	-	NC_000019.10:g.51713564G>T	ExAC,TOPMed,gnomAD
rs201280791	p.Glu544Ter	stop gained	-	NC_000019.10:g.51713555C>A	ESP,ExAC,TOPMed,gnomAD
rs780313591	p.Glu544Val	missense variant	-	NC_000019.10:g.51713554T>A	ExAC,TOPMed,gnomAD
rs201280791	p.Glu544Lys	missense variant	-	NC_000019.10:g.51713555C>T	ESP,ExAC,TOPMed,gnomAD
rs1419227107	p.Ala545Asp	missense variant	-	NC_000019.10:g.51713551G>T	gnomAD
rs750815065	p.His547Pro	missense variant	-	NC_000019.10:g.51713545T>G	ExAC,gnomAD
rs1477173853	p.Leu548Phe	missense variant	-	NC_000019.10:g.51713541C>G	gnomAD
rs1244703083	p.Ala549Pro	missense variant	-	NC_000019.10:g.51713540C>G	gnomAD
rs1026932420	p.Ala550Thr	missense variant	-	NC_000019.10:g.51713537C>T	TOPMed,gnomAD
rs1026932420	p.Ala550Ser	missense variant	-	NC_000019.10:g.51713537C>A	TOPMed,gnomAD
rs975764736	p.Ala550Val	missense variant	-	NC_000019.10:g.51713536G>A	TOPMed,gnomAD
rs551285865	p.Gly551Arg	missense variant	-	NC_000019.10:g.51713534C>G	1000Genomes,ExAC,gnomAD
rs551285865	p.Gly551Trp	missense variant	-	NC_000019.10:g.51713534C>A	1000Genomes,ExAC,gnomAD
rs551285865	p.Gly551Arg	missense variant	-	NC_000019.10:g.51713534C>T	1000Genomes,ExAC,gnomAD
rs754405233	p.Ala552Thr	missense variant	-	NC_000019.10:g.51713531C>T	ExAC,TOPMed,gnomAD
rs754405233	p.Ala552Ser	missense variant	-	NC_000019.10:g.51713531C>A	ExAC,TOPMed,gnomAD
rs377755127	p.Ala552Asp	missense variant	-	NC_000019.10:g.51713530G>T	ESP,ExAC,TOPMed,gnomAD
rs867468591	p.Gly553Ser	missense variant	-	NC_000019.10:g.51713528C>T	gnomAD
rs867468591	p.Gly553Arg	missense variant	-	NC_000019.10:g.51713528C>G	gnomAD
rs375056321	p.Ala554Asp	missense variant	-	NC_000019.10:g.51713524G>T	ESP,ExAC,TOPMed,gnomAD
rs1333380549	p.Val556Ala	missense variant	-	NC_000019.10:g.51713518A>G	gnomAD
rs769683032	p.Tyr558Cys	missense variant	-	NC_000019.10:g.51713512T>C	ExAC,TOPMed,gnomAD
rs769683032	p.Tyr558Phe	missense variant	-	NC_000019.10:g.51713512T>A	ExAC,TOPMed,gnomAD
rs761482619	p.Trp559Ter	stop gained	-	NC_000019.10:g.51713508C>T	ExAC,gnomAD
rs1424802035	p.Val560Leu	missense variant	-	NC_000019.10:g.51713507C>G	gnomAD
rs1478264163	p.Ala561Val	missense variant	-	NC_000019.10:g.51713503G>A	gnomAD
rs768467241	p.Met562Thr	missense variant	-	NC_000019.10:g.51713500A>G	ExAC,TOPMed,gnomAD
rs1271297123	p.Met562Val	missense variant	-	NC_000019.10:g.51713501T>C	TOPMed
rs1487935646	p.Leu563Phe	missense variant	-	NC_000019.10:g.51713496C>G	TOPMed,gnomAD
rs1191369117	p.Leu563Ser	missense variant	-	NC_000019.10:g.51713497A>G	gnomAD
rs1217318210	p.Thr564Met	missense variant	-	NC_000019.10:g.51713494G>A	gnomAD
rs1263206923	p.Thr564Ser	missense variant	-	NC_000019.10:g.51713495T>A	TOPMed,gnomAD
rs772303503	p.Leu565Pro	missense variant	-	NC_000019.10:g.51713491A>G	ExAC,TOPMed,gnomAD
rs780065781	p.Leu565Met	missense variant	-	NC_000019.10:g.51713492G>T	ExAC,TOPMed,gnomAD
rs200444967	p.Trp567Ter	stop gained	-	NC_000019.10:g.51713485C>T	ESP,ExAC,TOPMed,gnomAD
rs532774557	p.Gly569Ser	missense variant	-	NC_000019.10:g.51713480C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754136062	p.Val570Met	missense variant	-	NC_000019.10:g.51713477C>T	ExAC,TOPMed,gnomAD
rs756514995	p.Arg571Gln	missense variant	-	NC_000019.10:g.51713473C>T	ExAC,TOPMed,gnomAD
rs778353426	p.Arg571Trp	missense variant	-	NC_000019.10:g.51713474G>A	ExAC,gnomAD
rs751148168	p.Arg572Lys	missense variant	-	NC_000019.10:g.51713470C>T	ExAC,TOPMed,gnomAD
rs750141734	p.Arg575Gly	missense variant	-	NC_000019.10:g.51713462G>C	ExAC,gnomAD
rs764792472	p.Arg575Gln	missense variant	-	NC_000019.10:g.51713461C>T	ExAC,TOPMed,gnomAD
rs764792472	p.Arg575Leu	missense variant	-	NC_000019.10:g.51713461C>A	ExAC,TOPMed,gnomAD
rs1187740163	p.Arg577Pro	missense variant	-	NC_000019.10:g.51713455C>G	gnomAD
rs1187740163	p.Arg577Gln	missense variant	-	NC_000019.10:g.51713455C>T	gnomAD
rs776233327	p.Thr578Ile	missense variant	-	NC_000019.10:g.51713452G>A	ExAC,gnomAD
rs761727364	p.Thr578Ala	missense variant	-	NC_000019.10:g.51713453T>C	ExAC,TOPMed,gnomAD
rs528538024	p.Gly579Arg	missense variant	-	NC_000019.10:g.51713450C>G	1000Genomes,ExAC,gnomAD
rs560949858	p.Gly579Val	missense variant	-	NC_000019.10:g.51713449C>A	1000Genomes,ExAC,gnomAD
rs528538024	p.Gly579Arg	missense variant	-	NC_000019.10:g.51713450C>T	1000Genomes,ExAC,gnomAD
rs560949858	p.Gly579Ala	missense variant	-	NC_000019.10:g.51713449C>G	1000Genomes,ExAC,gnomAD
rs575227050	p.Gly580Val	missense variant	-	NC_000019.10:g.51713446C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs575227050	p.Gly580Asp	missense variant	-	NC_000019.10:g.51713446C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs936793816	p.Gly580Arg	missense variant	-	NC_000019.10:g.51713447C>G	TOPMed
rs770998085	p.Tyr581Cys	missense variant	-	NC_000019.10:g.51713443T>C	ExAC,gnomAD
rs372838640	p.Arg582Ser	missense variant	-	NC_000019.10:g.51713441G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372838640	p.Arg582Gly	missense variant	-	NC_000019.10:g.51713441G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372838640	p.Arg582Cys	missense variant	-	NC_000019.10:g.51713441G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781757286	p.Val583Asp	missense variant	-	NC_000019.10:g.51713437A>T	ExAC,gnomAD
rs781757286	p.Val583Ala	missense variant	-	NC_000019.10:g.51713437A>G	ExAC,gnomAD
rs544159095	p.Val583Ile	missense variant	-	NC_000019.10:g.51713438C>T	1000Genomes,ExAC,gnomAD
rs544159095	p.Val583Phe	missense variant	-	NC_000019.10:g.51713438C>A	1000Genomes,ExAC,gnomAD

Keyword ID	Keyword Term
KW-0472	Membrane
KW-1267	Proteomics identification
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

InterPro ID	InterPro Term
IPR028385	HAS1
IPR029044	Nucleotide-diphossugar_trans

Gene: HAS1

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

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction