CleftGeneDB-Search

Gene: PTPRS

Basic information

Tag	Content
Uniprot ID	Q13332; O75255; O75870; Q15718; Q16341; Q2M3R7;
Entrez ID	5802
Genbank protein ID	AAC62834.1; AAC62832.1; AAI43288.1; EAW69176.1; AAC50567.1; AAI04813.1; AAB21146.2; AAC50299.1; AAC27825.1;
Genbank nucleotide ID	XM_017027065.1; XM_017027067.1; XM_005259609.1; NM_130853.2; NM_130855.2; XM_005259606.2; NM_002850.3; XM_017027066.1; NM_130854.2;
Ensembl protein ID	ENSP00000467398; ENSP00000467537; ENSP00000465443;
Ensembl nucleotide ID	ENSG00000105426
Gene name	Receptor-type tyrosine-protein phosphatase S
Gene symbol	PTPRS
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain development, especially for normal development of the pituitary gland and the olfactory bulb. Functions as tyrosine phosphatase (PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 and NTRK3 (By similarity). Plays a role in down-regulation of signaling cascades that lead to the activation of Akt and MAP kinases (By similarity). Down-regulates TLR9-mediated activation of NF-kappa-B, as well as production of TNF, interferon alpha and interferon beta (PubMed:26231120).
Sequence	MAPTWGPGMV SVVGPMGLLV VLLVGGCAAE EPPRFIKEPK DQIGVSGGVA SFVCQATGDP 60 KPRVTWNKKG KKVNSQRFET IEFDESAGAV LRIQPLRTPR DENVYECVAQ NSVGEITVHA 120 KLTVLREDQL PSGFPNIDMG PQLKVVERTR TATMLCAASG NPDPEITWFK DFLPVDPSAS 180 NGRIKQLRSE TFESTPIRGA LQIESSEETD QGKYECVATN SAGVRYSSPA NLYVRELREV 240 RRVAPRFSIL PMSHEIMPGG NVNITCVAVG SPMPYVKWMQ GAEDLTPEDD MPVGRNVLEL 300 TDVKDSANYT CVAMSSLGVI EAVAQITVKS LPKAPGTPMV TENTATSITI TWDSGNPDPV 360 SYYVIEYKSK SQDGPYQIKE DITTTRYSIG GLSPNSEYEI WVSAVNSIGQ GPPSESVVTR 420 TGEQAPASAP RNVQARMLSA TTMIVQWEEP VEPNGLIRGY RVYYTMEPEH PVGNWQKHNV 480 DDSLLTTVGS LLEDETYTVR VLAFTSVGDG PLSDPIQVKT QQGVPGQPMN LRAEARSETS 540 ITLSWSPPRQ ESIIKYELLF REGDHGREVG RTFDPTTSYV VEDLKPNTEY AFRLAARSPQ 600 GLGAFTPVVR QRTLQSKPSA PPQDVKCVSV RSTAILVSWR PPPPETHNGA LVGYSVRYRP 660 LGSEDPEPKE VNGIPPTTTQ ILLEALEKWT QYRITTVAHT EVGPGPESSP VVVRTDEDVP 720 SAPPRKVEAE ALNATAIRVL WRSPAPGRQH GQIRGYQVHY VRMEGAEARG PPRIKDVMLA 780 DAQWETDDTA EYEMVITNLQ PETAYSITVA AYTMKGDGAR SKPKVVVTKG AVLGRPTLSV 840 QQTPEGSLLA RWEPPAGTAE DQVLGYRLQF GREDSTPLAT LEFPPSEDRY TASGVHKGAT 900 YVFRLAARSR GGLGEEAAEV LSIPEDTPRG HPQILEAAGN ASAGTVLLRW LPPVPAERNG 960 AIVKYTVAVR EAGALGPARE TELPAAAEPG AENALTLQGL KPDTAYDLQV RAHTRRGPGP 1020 FSPPVRYRTF LRDQVSPKNF KVKMIMKTSV LLSWEFPDNY NSPTPYKIQY NGLTLDVDGR 1080 TTKKLITHLK PHTFYNFVLT NRGSSLGGLQ QTVTAWTAFN LLNGKPSVAP KPDADGFIMV 1140 YLPDGQSPVP VQSYFIVMVP LRKSRGGQFL TPLGSPEDMD LEELIQDISR LQRRSLRHSR 1200 QLEVPRPYIA ARFSVLPPTF HPGDQKQYGG FDNRGLEPGH RYVLFVLAVL QKSEPTFAAS 1260 PFSDPFQLDN PDPQPIVDGE EGLIWVIGPV LAVVFIICIV IAILLYKNKP DSKRKDSEPR 1320 TKCLLNNADL APHHPKDPVE MRRINFQTPD SGLRSPLREP GFHFESMLSH PPIPIADMAE 1380 HTERLKANDS LKLSQEYESI DPGQQFTWEH SNLEVNKPKN RYANVIAYDH SRVILQPIEG 1440 IMGSDYINAN YVDGYRCQNA YIATQGPLPE TFGDFWRMVW EQRSATIVMM TRLEEKSRIK 1500 CDQYWPNRGT ETYGFIQVTL LDTIELATFC VRTFSLHKNG SSEKREVRQF QFTAWPDHGV 1560 PEYPTPFLAF LRRVKTCNPP DAGPIVVHCS AGVGRTGCFI VIDAMLERIK PEKTVDVYGH 1620 VTLMRSQRNY MVQTEDQYSF IHEALLEAVG CGNTEVPARS LYAYIQKLAQ VEPGEHVTGM 1680 ELEFKRLANS KAHTSRFISA NLPCNKFKNR LVNIMPYEST RVCLQPIRGV EGSDYINASF 1740 IDGYRQQKAY IATQGPLAET TEDFWRMLWE NNSTIVVMLT KLREMGREKC HQYWPAERSA 1800 RYQYFVVDPM AEYNMPQYIL REFKVTDARD GQSRTVRQFQ FTDWPEQGVP KSGEGFIDFI 1860 GQVHKTKEQF GQDGPISVHC SAGVGRTGVF ITLSIVLERM RYEGVVDIFQ TVKMLRTQRP 1920 AMVQTEDEYQ FCYQAALEYL GSFDHYAT 1948

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2FH7
2YD2
2YD3
2YD9
4BPC
4PBX
2FH7
2YD2
2YD3
2YD9
4BPC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PTPRS		A0A452GAY8		Capra hircus	Prediction	More>>
1:1 ortholog	PTPRS	5802	Q13332		Homo sapiens	Prediction	More>>
1:1 ortholog	Ptprs	19280	B0V2N1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	Ptprs		M0R711		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ptprsa		F1QLA4		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs202019323	p.Ala2Val	missense variant	-	NC_000019.10:g.5286136G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753384829	p.Gly6Val	missense variant	-	NC_000019.10:g.5286124C>A	ExAC,TOPMed,gnomAD
rs753384829	p.Gly6Asp	missense variant	-	NC_000019.10:g.5286124C>T	ExAC,TOPMed,gnomAD
rs573998098	p.Pro7Leu	missense variant	-	NC_000019.10:g.5286121G>A	1000Genomes,ExAC,gnomAD
rs1382974490	p.Met9Ile	missense variant	-	NC_000019.10:g.5286114C>T	TOPMed,gnomAD
rs1247683310	p.Met9Arg	missense variant	-	NC_000019.10:g.5286115A>C	gnomAD
rs1457144477	p.Met9Val	missense variant	-	NC_000019.10:g.5286116T>C	TOPMed
rs900143276	p.Val10Leu	missense variant	-	NC_000019.10:g.5286113C>G	TOPMed
rs1232964311	p.Val12Leu	missense variant	-	NC_000019.10:g.5286107C>G	TOPMed,gnomAD
rs1463514289	p.Val13Ile	missense variant	-	NC_000019.10:g.5286104C>T	TOPMed
rs1347927565	p.Pro15Leu	missense variant	-	NC_000019.10:g.5286097G>A	gnomAD
rs767184126	p.Met16Leu	missense variant	-	NC_000019.10:g.5286095T>G	ExAC,gnomAD
rs759513560	p.Gly17Cys	missense variant	-	NC_000019.10:g.5286092C>A	ExAC,gnomAD
rs1411368187	p.Leu19Phe	missense variant	-	NC_000019.10:g.5286086G>A	gnomAD
rs1373904570	p.Val20Met	missense variant	-	NC_000019.10:g.5286083C>T	gnomAD
rs200430287	p.Val24Ile	missense variant	-	NC_000019.10:g.5286071C>T	1000Genomes,ExAC,gnomAD
rs1157643989	p.Gly26Asp	missense variant	-	NC_000019.10:g.5286064C>T	gnomAD
rs61729776	p.Cys27Phe	missense variant	-	NC_000019.10:g.5286061C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs991681350	p.Cys27Trp	missense variant	-	NC_000019.10:g.5286060A>C	gnomAD
rs61729776	p.Cys27Tyr	missense variant	-	NC_000019.10:g.5286061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199573225	p.Pro32Arg	missense variant	-	NC_000019.10:g.5274341G>C	TOPMed
rs770312204	p.Pro32Ser	missense variant	-	NC_000019.10:g.5274342G>A	ExAC,gnomAD
rs770312204	p.Pro32Ala	missense variant	-	NC_000019.10:g.5274342G>C	ExAC,gnomAD
rs781002778	p.Pro33Leu	missense variant	-	NC_000019.10:g.5274338G>A	ExAC,gnomAD
rs1459725275	p.Ile36Val	missense variant	-	NC_000019.10:g.5274330T>C	gnomAD
rs1427468626	p.Lys40Glu	missense variant	-	NC_000019.10:g.5274318T>C	gnomAD
rs115231439	p.Lys40Arg	missense variant	-	NC_000019.10:g.5274317T>C	1000Genomes,ExAC,gnomAD
rs1181381541	p.Gln42Arg	missense variant	-	NC_000019.10:g.5274311T>C	TOPMed
rs758337995	p.Ile43Asn	missense variant	-	NC_000019.10:g.5274308A>T	ExAC,gnomAD
rs761620469	p.Val45Met	missense variant	-	NC_000019.10:g.5274303C>T	ExAC,TOPMed,gnomAD
rs1338995814	p.Val45Ala	missense variant	-	NC_000019.10:g.5274302A>G	TOPMed,gnomAD
rs1064293	p.Gly48Cys	missense variant	-	NC_000019.10:g.5274294C>A	gnomAD
rs1064293	p.Gly48Arg	missense variant	-	NC_000019.10:g.5274294C>G	gnomAD
rs767731605	p.Gly48Ala	missense variant	-	NC_000019.10:g.5274293C>G	ExAC,gnomAD
rs774466489	p.Val49Ala	missense variant	-	NC_000019.10:g.5274290A>G	ExAC,gnomAD
rs368676720	p.Val53Met	missense variant	-	NC_000019.10:g.5274279C>T	ESP,ExAC,TOPMed,gnomAD
rs901729379	p.Gln55Glu	missense variant	-	NC_000019.10:g.5274273G>C	TOPMed
rs1327116960	p.Thr57Met	missense variant	-	NC_000019.10:g.5274266G>A	gnomAD
rs1390340420	p.Lys61Gln	missense variant	-	NC_000019.10:g.5274255T>G	gnomAD
rs1161635961	p.Lys61Arg	missense variant	-	NC_000019.10:g.5274254T>C	TOPMed,gnomAD
rs569886681	p.Arg63Gln	missense variant	-	NC_000019.10:g.5274248C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1463639642	p.Thr65Ile	missense variant	-	NC_000019.10:g.5274242G>A	gnomAD
rs1252337813	p.Lys71Arg	missense variant	-	NC_000019.10:g.5274224T>C	gnomAD
rs146675930	p.Thr80Met	missense variant	-	NC_000019.10:g.5273582G>A	ESP,ExAC,TOPMed,gnomAD
rs1334263396	p.Ile81Thr	missense variant	-	NC_000019.10:g.5273579A>G	TOPMed,gnomAD
rs1415639092	p.Glu82Asp	missense variant	-	NC_000019.10:g.5273575C>G	gnomAD
rs1327491811	p.Asp84Val	missense variant	-	NC_000019.10:g.5273570T>A	TOPMed
rs1382740948	p.Ser86Asn	missense variant	-	NC_000019.10:g.5273564C>T	gnomAD
rs139892277	p.Ala87Ser	missense variant	-	NC_000019.10:g.5273562C>A	ESP,ExAC,TOPMed,gnomAD
rs750513868	p.Ala87Val	missense variant	-	NC_000019.10:g.5273561G>A	ExAC,gnomAD
rs1185447282	p.Val90Ala	missense variant	-	NC_000019.10:g.5273552A>G	TOPMed,gnomAD
rs1475010322	p.Pro95Leu	missense variant	-	NC_000019.10:g.5273537G>A	gnomAD
rs760964676	p.Pro99Leu	missense variant	-	NC_000019.10:g.5273525G>A	ExAC,gnomAD
rs1397380294	p.Arg100Trp	missense variant	-	NC_000019.10:g.5273523G>A	gnomAD
rs745579115	p.Val104Leu	missense variant	-	NC_000019.10:g.5273511C>A	ExAC,TOPMed,gnomAD
rs773830684	p.Val104Ala	missense variant	-	NC_000019.10:g.5273510A>G	ExAC,gnomAD
rs745579115	p.Val104Met	missense variant	-	NC_000019.10:g.5273511C>T	ExAC,TOPMed,gnomAD
rs1015763824	p.Glu106Gln	missense variant	-	NC_000019.10:g.5273505C>G	gnomAD
rs770457990	p.Glu106Asp	missense variant	-	NC_000019.10:g.5273503C>A	ExAC,TOPMed,gnomAD
rs1015763824	p.Glu106Lys	missense variant	-	NC_000019.10:g.5273505C>T	gnomAD
rs1284384957	p.Ser112Leu	missense variant	-	NC_000019.10:g.5273486G>A	TOPMed,gnomAD
rs114080870	p.Val113Ala	missense variant	-	NC_000019.10:g.5273483A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114080870	p.Val113Asp	missense variant	-	NC_000019.10:g.5273483A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1166698761	p.Gly114Arg	missense variant	-	NC_000019.10:g.5273481C>T	TOPMed
rs1457708210	p.Ile116Val	missense variant	-	NC_000019.10:g.5273475T>C	gnomAD
rs1390669494	p.Val118Ala	missense variant	-	NC_000019.10:g.5273468A>G	gnomAD
rs1460689258	p.His119Arg	missense variant	-	NC_000019.10:g.5273465T>C	gnomAD
rs758669308	p.Arg126Gln	missense variant	-	NC_000019.10:g.5273444C>T	ExAC,gnomAD
rs1246787618	p.Gln129Ter	stop gained	-	NC_000019.10:g.5265191G>A	TOPMed
rs1027747420	p.Pro131Arg	missense variant	-	NC_000019.10:g.5265184G>C	TOPMed
rs764127261	p.Pro131Ser	missense variant	-	NC_000019.10:g.5265185G>A	ExAC,gnomAD
rs760753054	p.Ser132Tyr	missense variant	-	NC_000019.10:g.5265181G>T	ExAC,gnomAD
rs760753054	p.Ser132Phe	missense variant	-	NC_000019.10:g.5265181G>A	ExAC,gnomAD
rs1353833193	p.Gly133Asp	missense variant	-	NC_000019.10:g.5265178C>T	gnomAD
rs139336866	p.Asn136Ser	missense variant	-	NC_000019.10:g.5265169T>C	ESP,ExAC,TOPMed,gnomAD
rs139336866	p.Asn136Thr	missense variant	-	NC_000019.10:g.5265169T>G	ESP,ExAC,TOPMed,gnomAD
rs147257283	p.Asp138Asn	missense variant	-	NC_000019.10:g.5265164C>T	ESP,ExAC,TOPMed,gnomAD
rs769694321	p.Met139Ile	missense variant	-	NC_000019.10:g.5265159C>A	ExAC
rs1240874162	p.Gly140Ser	missense variant	-	NC_000019.10:g.5265158C>T	TOPMed
rs748255589	p.Arg148Trp	missense variant	-	NC_000019.10:g.5265134G>A	ExAC,gnomAD
rs769916725	p.Arg148Gln	missense variant	-	NC_000019.10:g.5265133C>T	gnomAD
rs781304015	p.Arg150Gln	missense variant	-	NC_000019.10:g.5265127C>T	ExAC,gnomAD
rs1423947612	p.Thr153Ile	missense variant	-	NC_000019.10:g.5265118G>A	gnomAD
rs779673227	p.Thr153Ser	missense variant	-	NC_000019.10:g.5265119T>A	TOPMed
rs1423947612	p.Thr153Ser	missense variant	-	NC_000019.10:g.5265118G>C	gnomAD
rs368174544	p.Met154Ile	missense variant	-	NC_000019.10:g.5265114C>G	ESP,ExAC,TOPMed,gnomAD
rs1268476603	p.Asn161Ser	missense variant	-	NC_000019.10:g.5265094T>C	TOPMed
rs1437325340	p.Asp163Asn	missense variant	-	NC_000019.10:g.5265089C>T	gnomAD
rs753385888	p.Pro164Thr	missense variant	-	NC_000019.10:g.5265086G>T	ExAC,gnomAD
rs1012858382	p.Thr167Ile	missense variant	-	NC_000019.10:g.5265076G>A	gnomAD
rs1338812878	p.Val175Met	missense variant	-	NC_000019.10:g.5265053C>T	TOPMed
rs1434406998	p.Asp176Gly	missense variant	-	NC_000019.10:g.5265049T>C	gnomAD
rs1363057483	p.Asp176Asn	missense variant	-	NC_000019.10:g.5265050C>T	TOPMed
rs759377376	p.Ala179Val	missense variant	-	NC_000019.10:g.5265040G>A	ExAC,TOPMed,gnomAD
rs774081095	p.Ser180Ile	missense variant	-	NC_000019.10:g.5265037C>A	ExAC,TOPMed,gnomAD
rs1341984889	p.Asn181Ser	missense variant	-	NC_000019.10:g.5265034T>C	TOPMed
rs770043743	p.Arg183Cys	missense variant	-	NC_000019.10:g.5265029G>A	ExAC,gnomAD
rs748364975	p.Arg183His	missense variant	-	NC_000019.10:g.5265028C>T	ExAC,gnomAD
rs748364975	p.Arg183Leu	missense variant	-	NC_000019.10:g.5265028C>A	ExAC,gnomAD
rs890484474	p.Ile184Met	missense variant	-	NC_000019.10:g.5265024G>C	TOPMed,gnomAD
rs758242063	p.Lys185Arg	missense variant	-	NC_000019.10:g.5265022T>C	ExAC,TOPMed,gnomAD
rs758242063	p.Lys185Thr	missense variant	-	NC_000019.10:g.5265022T>G	ExAC,TOPMed,gnomAD
rs1401462780	p.Glu190Gly	missense variant	-	NC_000019.10:g.5262972T>C	gnomAD
rs1173071418	p.Thr191Ile	missense variant	-	NC_000019.10:g.5262969G>A	gnomAD
rs779306635	p.Phe192Leu	missense variant	-	NC_000019.10:g.5262967A>G	ExAC,gnomAD
rs1181107330	p.Phe192Cys	missense variant	-	NC_000019.10:g.5262966A>C	gnomAD
rs912584329	p.Thr195Ala	missense variant	-	NC_000019.10:g.5260817T>C	TOPMed,gnomAD
rs774744361	p.Pro196Leu	missense variant	-	NC_000019.10:g.5260813G>A	ExAC,TOPMed,gnomAD
rs1405759365	p.Ile197Thr	missense variant	-	NC_000019.10:g.5260810A>G	TOPMed
rs747842113	p.Arg198Leu	missense variant	-	NC_000019.10:g.5260807C>A	ExAC,TOPMed,gnomAD
rs530233682	p.Arg198Ter	stop gained	-	NC_000019.10:g.5260808G>A	1000Genomes,ExAC,gnomAD
rs747842113	p.Arg198Pro	missense variant	-	NC_000019.10:g.5260807C>G	ExAC,TOPMed,gnomAD
rs747842113	p.Arg198Gln	missense variant	-	NC_000019.10:g.5260807C>T	ExAC,TOPMed,gnomAD
rs1318524595	p.Ala200Gly	missense variant	-	NC_000019.10:g.5258124G>C	gnomAD
rs1490026931	p.Ala200Ser	missense variant	-	NC_000019.10:g.5258125C>A	TOPMed
rs751838422	p.Ser205Asn	missense variant	-	NC_000019.10:g.5258109C>T	ExAC,TOPMed,gnomAD
rs780229133	p.Thr209Ile	missense variant	-	NC_000019.10:g.5258097G>A	ExAC,TOPMed,gnomAD
rs780229133	p.Thr209Ser	missense variant	-	NC_000019.10:g.5258097G>C	ExAC,TOPMed,gnomAD
rs1254236268	p.Asp210Asn	missense variant	-	NC_000019.10:g.5258095C>T	TOPMed,gnomAD
rs1226298171	p.Ser221Arg	missense variant	-	NC_000019.10:g.5258062T>G	gnomAD
rs1302269430	p.Val224Ala	missense variant	-	NC_000019.10:g.5258052A>G	gnomAD
rs759053243	p.Val224Met	missense variant	-	NC_000019.10:g.5258053C>T	ExAC,TOPMed,gnomAD
rs770748688	p.Arg225His	missense variant	-	NC_000019.10:g.5258049C>T	ExAC,TOPMed,gnomAD
rs773920614	p.Arg225Cys	missense variant	-	NC_000019.10:g.5258050G>A	ExAC,TOPMed,gnomAD
rs1222540404	p.Asn231Ser	missense variant	-	NC_000019.10:g.5258031T>C	TOPMed
rs1435990354	p.Val234Met	missense variant	-	NC_000019.10:g.5258023C>T	TOPMed
rs867992252	p.Arg241His	missense variant	-	NC_000019.10:g.5246042C>T	TOPMed,gnomAD
rs1448131962	p.Arg242His	missense variant	-	NC_000019.10:g.5246039C>T	TOPMed,gnomAD
rs781664688	p.Val243Met	missense variant	-	NC_000019.10:g.5246037C>T	ExAC,TOPMed,gnomAD
rs769218434	p.Ala244Val	missense variant	-	NC_000019.10:g.5246033G>A	ExAC,TOPMed,gnomAD
rs1207603443	p.Arg246Pro	missense variant	-	NC_000019.10:g.5246027C>G	TOPMed,gnomAD
rs1207603443	p.Arg246His	missense variant	-	NC_000019.10:g.5246027C>T	TOPMed,gnomAD
rs1358091402	p.Ser248Phe	missense variant	-	NC_000019.10:g.5246021G>A	gnomAD
rs1248092226	p.Pro251Ser	missense variant	-	NC_000019.10:g.5246013G>A	gnomAD
rs150419970	p.Met252Val	missense variant	-	NC_000019.10:g.5246010T>C	ESP,ExAC,gnomAD
rs558548676	p.Glu255Lys	missense variant	-	NC_000019.10:g.5246001C>T	ExAC,TOPMed,gnomAD
rs1302033266	p.Ile256Leu	missense variant	-	NC_000019.10:g.5245998T>G	TOPMed
rs778517480	p.Met257Leu	missense variant	-	NC_000019.10:g.5245995T>G	ExAC,gnomAD
rs756841132	p.Pro258Ala	missense variant	-	NC_000019.10:g.5245992G>C	ExAC,TOPMed
rs753765123	p.Gly260Asp	missense variant	-	NC_000019.10:g.5245985C>T	ExAC,gnomAD
rs1404903701	p.Asn261Asp	missense variant	-	NC_000019.10:g.5245983T>C	gnomAD
rs1390057330	p.Thr265Ile	missense variant	-	NC_000019.10:g.5245970G>A	gnomAD
rs528031356	p.Val269Met	missense variant	-	NC_000019.10:g.5245959C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1490066505	p.Ser271Leu	missense variant	-	NC_000019.10:g.5245952G>A	gnomAD
rs747508744	p.Glu283Lys	missense variant	-	NC_000019.10:g.5245917C>T	ExAC,TOPMed,gnomAD
rs1490884536	p.Asp284Gly	missense variant	-	NC_000019.10:g.5245913T>C	TOPMed
rs1272793773	p.Pro287Ala	missense variant	-	NC_000019.10:g.5245905G>C	gnomAD
rs745467530	p.Asp289Asn	missense variant	-	NC_000019.10:g.5245899C>T	ExAC,TOPMed,gnomAD
rs1399708087	p.Asp289Gly	missense variant	-	NC_000019.10:g.5245898T>C	gnomAD
rs376695892	p.Val293Met	missense variant	-	NC_000019.10:g.5245887C>T	ESP,ExAC,TOPMed,gnomAD
rs376695892	p.Val293Leu	missense variant	-	NC_000019.10:g.5245887C>A	ESP,ExAC,TOPMed,gnomAD
rs916402733	p.Gly294Asp	missense variant	-	NC_000019.10:g.5245883C>T	TOPMed
rs1045893958	p.Arg295Leu	missense variant	-	NC_000019.10:g.5245880C>A	gnomAD
rs1423516878	p.Arg295Trp	missense variant	-	NC_000019.10:g.5245881G>A	gnomAD
rs1045893958	p.Arg295Gln	missense variant	-	NC_000019.10:g.5245880C>T	gnomAD
rs948978539	p.Val297Met	missense variant	-	NC_000019.10:g.5245875C>T	TOPMed,gnomAD
rs1296092783	p.Thr301Lys	missense variant	-	NC_000019.10:g.5245862G>T	TOPMed
rs796731007	p.Asp305Asn	missense variant	-	NC_000019.10:g.5245851C>T	TOPMed,gnomAD
rs751418551	p.Ala307Ser	missense variant	-	NC_000019.10:g.5245845C>A	ExAC,gnomAD
rs532977374	p.Val312Met	missense variant	-	NC_000019.10:g.5245830C>T	1000Genomes,ExAC,gnomAD
rs746218785	p.Val319Ile	missense variant	-	NC_000019.10:g.5245809C>T	ExAC,TOPMed,gnomAD
rs774918692	p.Ile320Val	missense variant	-	NC_000019.10:g.5245806T>C	ExAC,gnomAD
rs1429624175	p.Ala322Thr	missense variant	-	NC_000019.10:g.5245800C>T	gnomAD
rs140450310	p.Val323Phe	missense variant	-	NC_000019.10:g.5245797C>A	ESP,gnomAD
rs1406625017	p.Gln325Arg	missense variant	-	NC_000019.10:g.5245790T>C	gnomAD
rs1250947259	p.Ile326Val	missense variant	-	NC_000019.10:g.5245788T>C	TOPMed
rs368461283	p.Thr327Met	missense variant	-	NC_000019.10:g.5245784G>A	ESP,ExAC,gnomAD
rs796391927	p.Thr327Ala	missense variant	-	NC_000019.10:g.5245785T>C	TOPMed
rs199586806	p.Ser330Cys	missense variant	-	NC_000019.10:g.5244482G>C	1000Genomes,TOPMed,gnomAD
rs754839223	p.Leu331Val	missense variant	-	NC_000019.10:g.5244480G>C	ExAC,gnomAD
rs754839223	p.Leu331Phe	missense variant	-	NC_000019.10:g.5244480G>A	ExAC,gnomAD
rs1218428122	p.Ala334Val	missense variant	-	NC_000019.10:g.5244470G>A	gnomAD
rs560188490	p.Gly336Arg	missense variant	-	NC_000019.10:g.5244465C>T	ExAC,TOPMed,gnomAD
rs1030053885	p.Thr337Ile	missense variant	-	NC_000019.10:g.5244461G>A	TOPMed,gnomAD
rs1030053885	p.Thr337Asn	missense variant	-	NC_000019.10:g.5244461G>T	TOPMed,gnomAD
rs756420564	p.Pro338Leu	missense variant	-	NC_000019.10:g.5244458G>A	ExAC,TOPMed,gnomAD
rs752701890	p.Met339Val	missense variant	-	NC_000019.10:g.5244456T>C	ExAC,TOPMed,gnomAD
rs767677619	p.Thr341Ser	missense variant	-	NC_000019.10:g.5244449G>C	ExAC,gnomAD
rs760082587	p.Asn343Ser	missense variant	-	NC_000019.10:g.5244443T>C	ExAC,TOPMed,gnomAD
rs752122945	p.Ile348Phe	missense variant	-	NC_000019.10:g.5244429T>A	ExAC,TOPMed,gnomAD
rs997693067	p.Ser354Ala	missense variant	-	NC_000019.10:g.5244411A>C	TOPMed
rs1487593505	p.Asn356Thr	missense variant	-	NC_000019.10:g.5244404T>G	gnomAD
rs769307626	p.Pro357Leu	missense variant	-	NC_000019.10:g.5244401G>A	ExAC,gnomAD
rs773681008	p.Pro357Ser	missense variant	-	NC_000019.10:g.5244402G>A	ExAC,gnomAD
rs1377937567	p.Val360Leu	missense variant	-	NC_000019.10:g.5244393C>G	TOPMed
rs377318412	p.Val364Ile	missense variant	-	NC_000019.10:g.5244381C>T	ESP,ExAC,TOPMed,gnomAD
rs149022837	p.Ile365Met	missense variant	-	NC_000019.10:g.5244376G>C	ESP,ExAC,TOPMed,gnomAD
rs1383575470	p.Glu366Lys	missense variant	-	NC_000019.10:g.5244375C>T	gnomAD
rs1343205425	p.Lys368Thr	missense variant	-	NC_000019.10:g.5244368T>G	gnomAD
rs1332113586	p.Ser369Cys	missense variant	-	NC_000019.10:g.5244365G>C	TOPMed
rs752835971	p.GlnAspGlyProTyrGlnIleLysGluAspIleThrThrThr372GlnAspGlyProTyrGlnIleLysGluAspIleThrThrArgArgAlaValSerAspTerArgGlyHisHisHisHisUnk	stop gained	-	NC_000019.10:g.5244355_5244356insGGTGGTGATGTCCTCTTTAATCTGATACGGCCCGTCT	ExAC
rs373004499	p.Asp373Glu	missense variant	-	NC_000019.10:g.5244352G>C	ESP,ExAC,TOPMed,gnomAD
rs778821298	p.Tyr376Cys	missense variant	-	NC_000019.10:g.5244344T>C	ExAC,gnomAD
rs756263696	p.Gln377Glu	missense variant	-	NC_000019.10:g.5244342G>C	ExAC,gnomAD
rs894022145	p.Glu380Asp	missense variant	-	NC_000019.10:g.5244331C>G	TOPMed
rs115982731	p.Thr385Ile	missense variant	-	NC_000019.10:g.5244317G>A	1000Genomes,ExAC
rs752997060	p.Thr385Ser	missense variant	-	NC_000019.10:g.5244318T>A	ExAC,gnomAD
rs751753667	p.Pro394Leu	missense variant	-	NC_000019.10:g.5244290G>A	ExAC,gnomAD
rs1054047470	p.Ser396Leu	missense variant	-	NC_000019.10:g.5244284G>A	TOPMed,gnomAD
rs750721878	p.Ser403Leu	missense variant	-	NC_000019.10:g.5244263G>A	ExAC,gnomAD
rs1236330494	p.Ser407Thr	missense variant	-	NC_000019.10:g.5244252A>T	TOPMed
rs760175569	p.Gln410Leu	missense variant	-	NC_000019.10:g.5244242T>A	ExAC,gnomAD
rs1346850495	p.Pro412Ser	missense variant	-	NC_000019.10:g.5244237G>A	TOPMed,gnomAD
rs375877065	p.Glu415Gln	missense variant	-	NC_000019.10:g.5244228C>G	ESP,TOPMed
rs1468015377	p.Thr419Ala	missense variant	-	NC_000019.10:g.5244216T>C	gnomAD
rs199851847	p.Arg420Leu	missense variant	-	NC_000019.10:g.5244212C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1046456607	p.Arg420Cys	missense variant	-	NC_000019.10:g.5244213G>A	TOPMed
rs199851847	p.Arg420His	missense variant	-	NC_000019.10:g.5244212C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781558493	p.Gly422Ser	missense variant	-	NC_000019.10:g.5244207C>T	ExAC,gnomAD
rs1181117492	p.Ala425Ser	missense variant	-	NC_000019.10:g.5244198C>A	gnomAD
rs780320073	p.Pro426Arg	missense variant	-	NC_000019.10:g.5244194G>C	ExAC,gnomAD
rs1461138038	p.Ala427Val	missense variant	-	NC_000019.10:g.5244191G>A	gnomAD
rs750960572	p.Ala427Thr	missense variant	-	NC_000019.10:g.5244192C>T	ExAC,gnomAD
rs754224013	p.Ala429Thr	missense variant	-	NC_000019.10:g.5244186C>T	ExAC,TOPMed,gnomAD
rs919253826	p.Ala429Val	missense variant	-	NC_000019.10:g.5244185G>A	TOPMed,gnomAD
rs1237664443	p.Arg431Trp	missense variant	-	NC_000019.10:g.5244180G>A	gnomAD
rs760369713	p.Arg431Leu	missense variant	-	NC_000019.10:g.5244179C>A	ExAC,TOPMed,gnomAD
rs760369713	p.Arg431Gln	missense variant	-	NC_000019.10:g.5244179C>T	ExAC,TOPMed,gnomAD
rs774952239	p.Val433Met	missense variant	-	NC_000019.10:g.5244174C>T	ExAC,TOPMed,gnomAD
rs1450264131	p.Gln434Arg	missense variant	-	NC_000019.10:g.5244170T>C	gnomAD
rs1405091584	p.Ala435Thr	missense variant	-	NC_000019.10:g.5244168C>T	TOPMed,gnomAD
rs1405091584	p.Ala435Ser	missense variant	-	NC_000019.10:g.5244168C>A	TOPMed,gnomAD
rs767048657	p.Arg436Trp	missense variant	-	NC_000019.10:g.5244165G>A	ExAC,gnomAD
rs759347088	p.Arg436Gln	missense variant	-	NC_000019.10:g.5244164C>T	ExAC,gnomAD
rs942040732	p.Met437Thr	missense variant	-	NC_000019.10:g.5244161A>G	TOPMed
rs774362368	p.Met437Val	missense variant	-	NC_000019.10:g.5244162T>C	ExAC,gnomAD
rs1234346320	p.Leu438Pro	missense variant	-	NC_000019.10:g.5244158A>G	gnomAD
rs373884789	p.Ala440Val	missense variant	-	NC_000019.10:g.5244152G>A	ESP,TOPMed,gnomAD
rs1444497360	p.Met443Lys	missense variant	-	NC_000019.10:g.5244143A>T	gnomAD
rs773187155	p.Ile444Val	missense variant	-	NC_000019.10:g.5244141T>C	ExAC,TOPMed,gnomAD
rs1476376062	p.Ile444Ser	missense variant	-	NC_000019.10:g.5244140A>C	TOPMed
rs1205925337	p.Val445Met	missense variant	-	NC_000019.10:g.5244138C>T	gnomAD
rs1205925337	p.Val445Leu	missense variant	-	NC_000019.10:g.5244138C>A	gnomAD
rs747264114	p.Glu449Lys	missense variant	-	NC_000019.10:g.5244126C>T	ExAC,gnomAD
rs1381888500	p.Asn454His	missense variant	-	NC_000019.10:g.5244111T>G	gnomAD
rs779471197	p.Gly455Ser	missense variant	-	NC_000019.10:g.5244108C>T	ExAC,gnomAD
rs1332041184	p.Leu456Val	missense variant	-	NC_000019.10:g.5244105G>C	TOPMed,gnomAD
rs141022401	p.Arg458Cys	missense variant	-	NC_000019.10:g.5244099G>A	ESP,ExAC,gnomAD
rs1387246320	p.Tyr460His	missense variant	-	NC_000019.10:g.5244093A>G	gnomAD
rs1424618363	p.Arg461Ser	missense variant	-	NC_000019.10:g.5244090G>T	gnomAD
rs1174113999	p.Arg461His	missense variant	-	NC_000019.10:g.5244089C>T	gnomAD
rs73545312	p.Val462Ile	missense variant	-	NC_000019.10:g.5244087C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs936571902	p.Tyr463Cys	missense variant	-	NC_000019.10:g.5244083T>C	gnomAD
rs936571902	p.Tyr463Phe	missense variant	-	NC_000019.10:g.5244083T>A	gnomAD
rs1287571878	p.Glu467Lys	missense variant	-	NC_000019.10:g.5244072C>T	gnomAD
rs143850087	p.Pro468Ala	missense variant	-	NC_000019.10:g.5244069G>C	ESP,TOPMed
rs766316020	p.His470Tyr	missense variant	-	NC_000019.10:g.5244063G>A	ExAC,gnomAD
rs1292383126	p.His470Arg	missense variant	-	NC_000019.10:g.5244062T>C	gnomAD
rs945169302	p.Pro471His	missense variant	-	NC_000019.10:g.5244059G>T	TOPMed,gnomAD
rs773100971	p.Pro471Ser	missense variant	-	NC_000019.10:g.5244060G>A	ExAC,gnomAD
rs945169302	p.Pro471Arg	missense variant	-	NC_000019.10:g.5244059G>C	TOPMed,gnomAD
rs775859391	p.Val472Gly	missense variant	-	NC_000019.10:g.5244056A>C	ExAC,gnomAD
rs747170106	p.Val472Met	missense variant	-	NC_000019.10:g.5244057C>T	ExAC,gnomAD
rs1256358502	p.Asn474Lys	missense variant	-	NC_000019.10:g.5244049G>C	TOPMed
rs892819223	p.Asn474Thr	missense variant	-	NC_000019.10:g.5244050T>G	TOPMed,gnomAD
rs1366794893	p.Gln476Lys	missense variant	-	NC_000019.10:g.5244045G>T	gnomAD
rs1032570673	p.Gln476His	missense variant	-	NC_000019.10:g.5244043C>G	TOPMed
rs1191866085	p.Lys477Thr	missense variant	-	NC_000019.10:g.5244041T>G	TOPMed
rs372290737	p.Val480Met	missense variant	-	NC_000019.10:g.5244033C>T	ESP,ExAC,TOPMed,gnomAD
rs372290737	p.Val480Leu	missense variant	-	NC_000019.10:g.5244033C>A	ESP,ExAC,TOPMed,gnomAD
rs771439798	p.Asp482Asn	missense variant	-	NC_000019.10:g.5244027C>T	ExAC,TOPMed,gnomAD
rs1264843131	p.Asp482Ala	missense variant	-	NC_000019.10:g.5244026T>G	gnomAD
rs749829582	p.Asp482Glu	missense variant	-	NC_000019.10:g.5244025G>C	ExAC,gnomAD
rs771439798	p.Asp482Tyr	missense variant	-	NC_000019.10:g.5244027C>A	ExAC,TOPMed,gnomAD
rs1490040794	p.Ser483Thr	missense variant	-	NC_000019.10:g.5244023C>G	gnomAD
rs752283871	p.Val488Met	missense variant	-	NC_000019.10:g.5244009C>T	ExAC,gnomAD
rs1281596869	p.Ser490Arg	missense variant	-	NC_000019.10:g.5244001G>C	gnomAD
rs1223052760	p.Leu491Val	missense variant	-	NC_000019.10:g.5244000G>C	gnomAD
rs754630715	p.Asp494Glu	missense variant	-	NC_000019.10:g.5243989G>T	ExAC,TOPMed,gnomAD
rs754630715	p.Asp494Glu	missense variant	-	NC_000019.10:g.5243989G>C	ExAC,TOPMed,gnomAD
rs144686472	p.Glu495Lys	missense variant	-	NC_000019.10:g.5243988C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330017972	p.Thr496Ile	missense variant	-	NC_000019.10:g.5243984G>A	gnomAD
rs1425401879	p.Val499Met	missense variant	-	NC_000019.10:g.5243976C>T	gnomAD
rs1173811578	p.Arg500Trp	missense variant	-	NC_000019.10:g.5243973G>A	gnomAD
rs762898326	p.Arg500Gln	missense variant	-	NC_000019.10:g.5243972C>T	ExAC,TOPMed,gnomAD
rs750397382	p.Val501Met	missense variant	-	NC_000019.10:g.5243970C>T	ExAC,gnomAD
rs1488811231	p.Ala503Pro	missense variant	-	NC_000019.10:g.5243964C>G	TOPMed
rs761695523	p.Val507Ile	missense variant	-	NC_000019.10:g.5243952C>T	ExAC,gnomAD
rs1260947679	p.Gly508Ser	missense variant	-	NC_000019.10:g.5243949C>T	gnomAD
rs1324477953	p.Asp509Asn	missense variant	-	NC_000019.10:g.5243946C>T	gnomAD
rs774450400	p.Gly510Arg	missense variant	-	NC_000019.10:g.5243943C>T	ExAC,gnomAD
rs770940806	p.Asp514His	missense variant	-	NC_000019.10:g.5243931C>G	ExAC,gnomAD
rs770940806	p.Asp514Asn	missense variant	-	NC_000019.10:g.5243931C>T	ExAC,gnomAD
rs1404373711	p.Ile516Val	missense variant	-	NC_000019.10:g.5243925T>C	gnomAD
rs749740606	p.Val518Phe	missense variant	-	NC_000019.10:g.5243919C>A	ExAC,gnomAD
rs749740606	p.Val518Leu	missense variant	-	NC_000019.10:g.5243919C>G	ExAC,gnomAD
rs778260386	p.Thr520Met	missense variant	-	NC_000019.10:g.5243912G>A	ExAC,TOPMed,gnomAD
rs752608557	p.Pro525Ser	missense variant	-	NC_000019.10:g.5240330G>A	ExAC,gnomAD
rs1424819010	p.Pro528Ala	missense variant	-	NC_000019.10:g.5240321G>C	gnomAD
rs1490005099	p.Met529Thr	missense variant	-	NC_000019.10:g.5240317A>G	gnomAD
rs1196402998	p.Met529Leu	missense variant	-	NC_000019.10:g.5240318T>A	gnomAD
rs1196402998	p.Met529Val	missense variant	-	NC_000019.10:g.5240318T>C	gnomAD
rs773233463	p.Arg532Gln	missense variant	-	NC_000019.10:g.5240308C>T	ExAC,TOPMed,gnomAD
rs1456886552	p.Arg532Trp	missense variant	-	NC_000019.10:g.5240309G>A	TOPMed
rs1249806655	p.Ala533Ser	missense variant	-	NC_000019.10:g.5240306C>A	gnomAD
rs777007079	p.Glu534Lys	missense variant	-	NC_000019.10:g.5240303C>T	ExAC,TOPMed,gnomAD
rs542381323	p.Ser537Leu	missense variant	-	NC_000019.10:g.5240293G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769272223	p.Ser537Ala	missense variant	-	NC_000019.10:g.5240294A>C	ExAC,gnomAD
rs771818768	p.Thr539Ile	missense variant	-	NC_000019.10:g.5240287G>A	ExAC,TOPMed,gnomAD
rs771818768	p.Thr539Ser	missense variant	-	NC_000019.10:g.5240287G>C	ExAC,TOPMed,gnomAD
rs778519343	p.Ile541Met	missense variant	-	NC_000019.10:g.5240280G>C	ExAC,TOPMed,gnomAD
rs368361739	p.Thr542Met	missense variant	-	NC_000019.10:g.5240278G>A	ESP,ExAC,TOPMed,gnomAD
rs1479695774	p.Ser546Gly	missense variant	-	NC_000019.10:g.5240267T>C	gnomAD
rs1490656205	p.Ser546Asn	missense variant	-	NC_000019.10:g.5240266C>T	TOPMed
rs1490656205	p.Ser546Ile	missense variant	-	NC_000019.10:g.5240266C>A	TOPMed
rs1164400838	p.Pro547Leu	missense variant	-	NC_000019.10:g.5240263G>A	gnomAD
rs145504993	p.Pro548Leu	missense variant	-	NC_000019.10:g.5240260G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145504993	p.Pro548Arg	missense variant	-	NC_000019.10:g.5240260G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750655279	p.Arg549Gln	missense variant	-	NC_000019.10:g.5240257C>T	ExAC,gnomAD
rs758563821	p.Arg549Trp	missense variant	-	NC_000019.10:g.5240258G>A	ExAC,TOPMed,gnomAD
rs866434612	p.Ser552Asn	missense variant	-	NC_000019.10:g.5240248C>T	gnomAD
rs1321214567	p.Ile554Leu	missense variant	-	NC_000019.10:g.5240243T>G	gnomAD
rs915259022	p.Glu557Lys	missense variant	-	NC_000019.10:g.5240234C>T	TOPMed
rs1364775813	p.Glu557Asp	missense variant	-	NC_000019.10:g.5240232C>G	TOPMed
rs764486191	p.Leu558Ile	missense variant	-	NC_000019.10:g.5240231G>T	ExAC,TOPMed,gnomAD
rs202189767	p.Arg561Trp	missense variant	-	NC_000019.10:g.5240222G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs575692671	p.Arg561Gln	missense variant	-	NC_000019.10:g.5240221C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1400561375	p.Glu562Lys	missense variant	-	NC_000019.10:g.5240219C>T	gnomAD
rs377077717	p.Glu562Asp	missense variant	-	NC_000019.10:g.5240217T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1405851239	p.Asp564Asn	missense variant	-	NC_000019.10:g.5240213C>T	TOPMed,gnomAD
rs774153777	p.His565Arg	missense variant	-	NC_000019.10:g.5240209T>C	ExAC,gnomAD
rs1309679923	p.Gly566Ser	missense variant	-	NC_000019.10:g.5240207C>T	gnomAD
rs141697567	p.Arg567Trp	missense variant	-	NC_000019.10:g.5240204G>A	ESP,TOPMed,gnomAD
rs770776322	p.Arg567Gln	missense variant	-	NC_000019.10:g.5240203C>T	ExAC,TOPMed,gnomAD
rs1165263208	p.Val569Ala	missense variant	-	NC_000019.10:g.5239062A>G	gnomAD
rs769356218	p.Thr572Pro	missense variant	-	NC_000019.10:g.5239054T>G	ExAC,TOPMed,gnomAD
rs769356218	p.Thr572Ala	missense variant	-	NC_000019.10:g.5239054T>C	ExAC,TOPMed,gnomAD
rs768636218	p.Asp574Tyr	missense variant	-	NC_000019.10:g.5239048C>A	ExAC,TOPMed,gnomAD
rs768636218	p.Asp574Asn	missense variant	-	NC_000019.10:g.5239048C>T	ExAC,TOPMed,gnomAD
rs376800020	p.Pro575Ser	missense variant	-	NC_000019.10:g.5239045G>A	ESP,ExAC,gnomAD
rs185326821	p.Pro575Leu	missense variant	-	NC_000019.10:g.5239044G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs185326821	p.Pro575Arg	missense variant	-	NC_000019.10:g.5239044G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200076643	p.Thr576Met	missense variant	-	NC_000019.10:g.5239041G>A	1000Genomes,ExAC,gnomAD
rs200076643	p.Thr576Arg	missense variant	-	NC_000019.10:g.5239041G>C	1000Genomes,ExAC,gnomAD
rs768127307	p.Thr577Ile	missense variant	-	NC_000019.10:g.5239038G>A	ExAC,gnomAD
rs751945387	p.Tyr579Cys	missense variant	-	NC_000019.10:g.5239032T>C	ExAC,gnomAD
rs1281988358	p.Val580Ala	missense variant	-	NC_000019.10:g.5239029A>G	gnomAD
rs374725933	p.Val580Met	missense variant	-	NC_000019.10:g.5239030C>T	ESP,ExAC,TOPMed,gnomAD
rs1281988358	p.Val580Glu	missense variant	-	NC_000019.10:g.5239029A>T	gnomAD
rs374725933	p.Val580Leu	missense variant	-	NC_000019.10:g.5239030C>G	ESP,ExAC,TOPMed,gnomAD
rs1435812079	p.Pro586Ser	missense variant	-	NC_000019.10:g.5239012G>A	gnomAD
rs772920152	p.Asn587His	missense variant	-	NC_000019.10:g.5239009T>G	ExAC,TOPMed,gnomAD
rs761297706	p.Thr588Met	missense variant	-	NC_000019.10:g.5239005G>A	ExAC,TOPMed,gnomAD
rs761297706	p.Thr588Lys	missense variant	-	NC_000019.10:g.5239005G>T	ExAC,TOPMed,gnomAD
rs138765579	p.Ala591Thr	missense variant	-	NC_000019.10:g.5238997C>T	ESP,ExAC,TOPMed,gnomAD
rs746980366	p.Ala591Asp	missense variant	-	NC_000019.10:g.5238996G>T	ExAC,gnomAD
rs775100072	p.Arg593Cys	missense variant	-	NC_000019.10:g.5238991G>A	ExAC,TOPMed,gnomAD
rs771916005	p.Arg593His	missense variant	-	NC_000019.10:g.5238990C>T	ExAC,TOPMed,gnomAD
rs368576915	p.Ala595Thr	missense variant	-	NC_000019.10:g.5238985C>T	ESP,ExAC,TOPMed,gnomAD
rs778054699	p.Arg597Cys	missense variant	-	NC_000019.10:g.5238979G>A	ExAC,TOPMed,gnomAD
rs1294241597	p.Arg597His	missense variant	-	NC_000019.10:g.5238978C>T	TOPMed
rs756351666	p.Ser598Leu	missense variant	-	NC_000019.10:g.5238975G>A	ExAC,TOPMed,gnomAD
rs554924044	p.Pro599Leu	missense variant	-	NC_000019.10:g.5238972G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1281887798	p.Gln600Arg	missense variant	-	NC_000019.10:g.5238969T>C	gnomAD
rs1219183837	p.Gly601Asp	missense variant	-	NC_000019.10:g.5238966C>T	gnomAD
rs1276695571	p.Gly603Ser	missense variant	-	NC_000019.10:g.5238961C>T	TOPMed,gnomAD
rs144851217	p.Ala604Thr	missense variant	-	NC_000019.10:g.5238958C>T	ESP,ExAC,TOPMed,gnomAD
rs750809679	p.Thr606Asn	missense variant	-	NC_000019.10:g.5238951G>T	ExAC,TOPMed,gnomAD
rs140733933	p.Pro607His	missense variant	-	NC_000019.10:g.5238948G>T	ESP,ExAC,TOPMed,gnomAD
rs140733933	p.Pro607Leu	missense variant	-	NC_000019.10:g.5238948G>A	ESP,ExAC,TOPMed,gnomAD
rs760549393	p.Val608Met	missense variant	-	NC_000019.10:g.5238946C>T	ExAC,TOPMed,gnomAD
rs775503097	p.Val608Gly	missense variant	-	NC_000019.10:g.5238945A>C	ExAC,gnomAD
rs1237159914	p.Arg610Trp	missense variant	-	NC_000019.10:g.5238940G>A	TOPMed,gnomAD
rs1237159914	p.Arg610Gly	missense variant	-	NC_000019.10:g.5238940G>C	TOPMed,gnomAD
rs1178903212	p.Arg610Gln	missense variant	-	NC_000019.10:g.5238939C>T	TOPMed,gnomAD
rs1261679177	p.Gln611Glu	missense variant	-	NC_000019.10:g.5238937G>C	TOPMed,gnomAD
rs1209950991	p.Gln611Arg	missense variant	-	NC_000019.10:g.5238936T>C	gnomAD
rs946180785	p.Arg612His	missense variant	-	NC_000019.10:g.5238933C>T	TOPMed
rs745665862	p.Arg612Cys	missense variant	-	NC_000019.10:g.5238934G>A	ExAC,gnomAD
rs913402227	p.Thr613Met	missense variant	-	NC_000019.10:g.5238930G>A	TOPMed,gnomAD
rs1330682967	p.Lys617Arg	missense variant	-	NC_000019.10:g.5231615T>C	TOPMed
rs777396253	p.Pro618Leu	missense variant	-	NC_000019.10:g.5231612G>A	ExAC,gnomAD
rs374621025	p.Ser619Ter	stop gained	-	NC_000019.10:g.5231609G>T	ESP,ExAC,gnomAD
rs752226232	p.Ala620Asp	missense variant	-	NC_000019.10:g.5231606G>T	ExAC,gnomAD
rs766486140	p.Pro621His	missense variant	-	NC_000019.10:g.5231603G>T	ExAC,gnomAD
rs1488250331	p.Pro622Thr	missense variant	-	NC_000019.10:g.5231601G>T	TOPMed,gnomAD
rs1488250331	p.Pro622Ser	missense variant	-	NC_000019.10:g.5231601G>A	TOPMed,gnomAD
rs760830146	p.Asp624Gly	missense variant	-	NC_000019.10:g.5231594T>C	ExAC,gnomAD
rs772048652	p.Val630Leu	missense variant	-	NC_000019.10:g.5231577C>G	ExAC,TOPMed,gnomAD
rs772048652	p.Val630Met	missense variant	-	NC_000019.10:g.5231577C>T	ExAC,TOPMed,gnomAD
rs779378586	p.Arg631Ser	missense variant	-	NC_000019.10:g.5231574G>T	ExAC,TOPMed,gnomAD
rs779378586	p.Arg631Cys	missense variant	-	NC_000019.10:g.5231574G>A	ExAC,TOPMed,gnomAD
rs1216644787	p.Thr633Met	missense variant	-	NC_000019.10:g.5231567G>A	gnomAD
rs771492236	p.Ile635Val	missense variant	-	NC_000019.10:g.5231562T>C	ExAC,TOPMed,gnomAD
rs150939732	p.Arg640His	missense variant	-	NC_000019.10:g.5231546C>T	ESP,ExAC,TOPMed
rs868011195	p.Arg640Cys	missense variant	-	NC_000019.10:g.5231547G>A	gnomAD
rs755739102	p.Pro641Leu	missense variant	-	NC_000019.10:g.5231543G>A	ExAC,gnomAD
rs994725876	p.Pro641Ser	missense variant	-	NC_000019.10:g.5231544G>A	TOPMed
rs754436545	p.Pro643Leu	missense variant	-	NC_000019.10:g.5231537G>A	ExAC,TOPMed,gnomAD
rs766391106	p.Pro644Thr	missense variant	-	NC_000019.10:g.5231535G>T	ExAC,TOPMed,gnomAD
rs766391106	p.Pro644Ala	missense variant	-	NC_000019.10:g.5231535G>C	ExAC,TOPMed,gnomAD
rs766391106	p.Pro644Ser	missense variant	-	NC_000019.10:g.5231535G>A	ExAC,TOPMed,gnomAD
rs758460182	p.Pro644Leu	missense variant	-	NC_000019.10:g.5231534G>A	ExAC,TOPMed,gnomAD
rs760884281	p.Thr646Met	missense variant	-	NC_000019.10:g.5231528G>A	ExAC,gnomAD
rs767837276	p.Gly649Arg	missense variant	-	NC_000019.10:g.5231520C>G	ExAC,gnomAD
rs767837276	p.Gly649Arg	missense variant	-	NC_000019.10:g.5231520C>T	ExAC,gnomAD
rs759529027	p.Ala650Pro	missense variant	-	NC_000019.10:g.5231517C>G	ExAC,gnomAD
rs1220417036	p.Val652Leu	missense variant	-	NC_000019.10:g.5231511C>G	gnomAD
rs771403922	p.Ser655Gly	missense variant	-	NC_000019.10:g.5231502T>C	ExAC,gnomAD
rs1386910242	p.Arg657His	missense variant	-	NC_000019.10:g.5231495C>T	TOPMed,gnomAD
rs200689431	p.Arg657Cys	missense variant	-	NC_000019.10:g.5231496G>A	1000Genomes,ExAC,gnomAD
rs200771602	p.Pro660Leu	missense variant	-	NC_000019.10:g.5231486G>A	ExAC,gnomAD
rs200771602	p.Pro660Gln	missense variant	-	NC_000019.10:g.5231486G>T	ExAC,gnomAD
rs200172769	p.Ser663Leu	missense variant	-	NC_000019.10:g.5231477G>A	ExAC,TOPMed,gnomAD
rs147784971	p.Ser663Pro	missense variant	-	NC_000019.10:g.5231478A>G	ESP,ExAC,TOPMed,gnomAD
rs147784971	p.Ser663Ala	missense variant	-	NC_000019.10:g.5231478A>C	ESP,ExAC,TOPMed,gnomAD
rs370707556	p.Glu664Ala	missense variant	-	NC_000019.10:g.5231474T>G	ESP,ExAC,TOPMed,gnomAD
rs1484148894	p.Glu664Gln	missense variant	-	NC_000019.10:g.5231475C>G	gnomAD
rs1372364043	p.Asp665Gly	missense variant	-	NC_000019.10:g.5231471T>C	TOPMed
rs1308508280	p.Asp665Asn	missense variant	-	NC_000019.10:g.5231472C>T	TOPMed
rs1377623190	p.Pro666Leu	missense variant	-	NC_000019.10:g.5231468G>A	TOPMed,gnomAD
rs1355617947	p.Lys669Glu	missense variant	-	NC_000019.10:g.5231460T>C	TOPMed
rs919758857	p.Gly673Ser	missense variant	-	NC_000019.10:g.5231448C>T	TOPMed
rs759801187	p.Ile674Met	missense variant	-	NC_000019.10:g.5231443G>C	ExAC,TOPMed,gnomAD
rs1238574782	p.Pro675Thr	missense variant	-	NC_000019.10:g.5231442G>T	gnomAD
rs376058028	p.Pro676Leu	missense variant	-	NC_000019.10:g.5231438G>A	ESP,ExAC,TOPMed,gnomAD
rs1306570922	p.Gln680His	missense variant	-	NC_000019.10:g.5231425C>G	gnomAD
rs1313475733	p.Gln680Glu	missense variant	-	NC_000019.10:g.5231427G>C	gnomAD
rs1036934835	p.Glu684Lys	missense variant	-	NC_000019.10:g.5231415C>T	TOPMed,gnomAD
rs1036934835	p.Glu684Gln	missense variant	-	NC_000019.10:g.5231415C>G	TOPMed,gnomAD
rs1333782961	p.Ala685Val	missense variant	-	NC_000019.10:g.5231411G>A	gnomAD
rs770401761	p.Trp689Ter	stop gained	-	NC_000019.10:g.5231399C>T	ExAC,gnomAD
rs568688962	p.Arg693Cys	missense variant	-	NC_000019.10:g.5231388G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370330291	p.Thr695Met	missense variant	-	NC_000019.10:g.5231381G>A	ESP,ExAC,TOPMed,gnomAD
rs1240330020	p.Thr696Ile	missense variant	-	NC_000019.10:g.5231378G>A	gnomAD
rs778710485	p.Ala698Thr	missense variant	-	NC_000019.10:g.5231373C>T	ExAC,TOPMed,gnomAD
rs757257991	p.Glu701Gln	missense variant	-	NC_000019.10:g.5231364C>G	ExAC
rs753552451	p.Glu701Gly	missense variant	-	NC_000019.10:g.5231363T>C	ExAC,gnomAD
rs147750933	p.Gly703Arg	missense variant	-	NC_000019.10:g.5231358C>T	ESP,ExAC,TOPMed,gnomAD
rs945177819	p.Pro704Arg	missense variant	-	NC_000019.10:g.5231354G>C	TOPMed,gnomAD
rs945177819	p.Pro704Leu	missense variant	-	NC_000019.10:g.5231354G>A	TOPMed,gnomAD
rs1243032613	p.Gly705Val	missense variant	-	NC_000019.10:g.5231351C>A	gnomAD
rs1340279963	p.Pro706Leu	missense variant	-	NC_000019.10:g.5231348G>A	gnomAD
rs1053912542	p.Glu707Asp	missense variant	-	NC_000019.10:g.5231344C>A	TOPMed,gnomAD
rs370338775	p.Ser709Leu	missense variant	-	NC_000019.10:g.5231339G>A	ExAC,TOPMed,gnomAD
rs1420442830	p.Pro710Ser	missense variant	-	NC_000019.10:g.5231337G>A	gnomAD
rs765642813	p.Val711Met	missense variant	-	NC_000019.10:g.5231334C>T	ExAC,TOPMed,gnomAD
rs1367694603	p.Val713Ile	missense variant	-	NC_000019.10:g.5231328C>T	gnomAD
rs769069932	p.Arg714Pro	missense variant	-	NC_000019.10:g.5231324C>G	ExAC,gnomAD
rs776822913	p.Arg714Cys	missense variant	-	NC_000019.10:g.5231325G>A	ExAC,TOPMed,gnomAD
rs769069932	p.Arg714His	missense variant	-	NC_000019.10:g.5231324C>T	ExAC,gnomAD
rs1488356054	p.Asp716Asn	missense variant	-	NC_000019.10:g.5231319C>T	TOPMed,gnomAD
rs775268583	p.Asp716Glu	missense variant	-	NC_000019.10:g.5231317G>C	ExAC,TOPMed,gnomAD
rs1447785084	p.Glu717Lys	missense variant	-	NC_000019.10:g.5231316C>T	TOPMed
rs971664522	p.Asp718Gly	missense variant	-	NC_000019.10:g.5231312T>C	TOPMed
rs1393421847	p.Ala722Val	missense variant	-	NC_000019.10:g.5229675G>A	TOPMed
rs1374310303	p.Ala722Thr	missense variant	-	NC_000019.10:g.5229676C>T	TOPMed
rs960841066	p.Val727Met	missense variant	-	NC_000019.10:g.5229661C>T	TOPMed
rs1360054733	p.Val727Ala	missense variant	-	NC_000019.10:g.5229660A>G	gnomAD
rs1364091998	p.Ala729Val	missense variant	-	NC_000019.10:g.5229654G>A	TOPMed,gnomAD
rs1364091998	p.Ala729Gly	missense variant	-	NC_000019.10:g.5229654G>C	TOPMed,gnomAD
rs1273151991	p.Ala731Val	missense variant	-	NC_000019.10:g.5229648G>A	TOPMed,gnomAD
rs1328222592	p.Ala734Asp	missense variant	-	NC_000019.10:g.5229639G>T	TOPMed,gnomAD
rs1035485750	p.Ala736Ser	missense variant	-	NC_000019.10:g.5229634C>A	TOPMed
rs1254439512	p.Arg738His	missense variant	-	NC_000019.10:g.5229627C>T	TOPMed
rs1164098327	p.Arg738Cys	missense variant	-	NC_000019.10:g.5229628G>A	TOPMed,gnomAD
rs1004888859	p.Ala745Thr	missense variant	-	NC_000019.10:g.5229607C>T	TOPMed,gnomAD
rs1064295	p.Ala745Val	missense variant	-	NC_000019.10:g.5229606G>A	gnomAD
rs1246891588	p.Gly747Ser	missense variant	-	NC_000019.10:g.5229601C>T	TOPMed,gnomAD
rs1195141314	p.Gly747Asp	missense variant	-	NC_000019.10:g.5229600C>T	gnomAD
rs1237963337	p.Arg748Leu	missense variant	-	NC_000019.10:g.5229597C>A	gnomAD
rs1399739848	p.Arg748Trp	missense variant	-	NC_000019.10:g.5229598G>A	TOPMed
rs1309771135	p.His750Gln	missense variant	-	NC_000019.10:g.5229590G>T	TOPMed,gnomAD
rs769766853	p.Gln752Glu	missense variant	-	NC_000019.10:g.5229586G>C	ExAC,gnomAD
rs1384894908	p.Gln752His	missense variant	-	NC_000019.10:g.5229584C>A	TOPMed
rs1477293906	p.Gln752Leu	missense variant	-	NC_000019.10:g.5229585T>A	gnomAD
rs1307585641	p.Gln757Arg	missense variant	-	NC_000019.10:g.5229570T>C	TOPMed
rs1305842029	p.His759Tyr	missense variant	-	NC_000019.10:g.5229565G>A	gnomAD
rs1027605608	p.Tyr760Phe	missense variant	-	NC_000019.10:g.5229561T>A	TOPMed
rs1374294763	p.Arg762His	missense variant	-	NC_000019.10:g.5229555C>T	TOPMed,gnomAD
rs1038862962	p.Arg762Ser	missense variant	-	NC_000019.10:g.5229556G>T	TOPMed,gnomAD
rs1038862962	p.Arg762Cys	missense variant	-	NC_000019.10:g.5229556G>A	TOPMed,gnomAD
rs1442731364	p.Met763Val	missense variant	-	NC_000019.10:g.5229553T>C	TOPMed,gnomAD
rs1442731364	p.Met763Leu	missense variant	-	NC_000019.10:g.5229553T>A	TOPMed,gnomAD
rs1356179565	p.Gly765Ala	missense variant	-	NC_000019.10:g.5229546C>G	TOPMed,gnomAD
rs780989941	p.Ala766Thr	missense variant	-	NC_000019.10:g.5229544C>T	ExAC,gnomAD
rs1174099281	p.Ala768Gly	missense variant	-	NC_000019.10:g.5229537G>C	TOPMed
rs1175059175	p.Ala768Pro	missense variant	-	NC_000019.10:g.5229538C>G	gnomAD
rs1437431875	p.Arg769Cys	missense variant	-	NC_000019.10:g.5229535G>A	TOPMed,gnomAD
rs542345642	p.Pro771Leu	missense variant	-	NC_000019.10:g.5229528G>A	1000Genomes,ExAC,gnomAD
rs1053239616	p.Pro771Ser	missense variant	-	NC_000019.10:g.5229529G>A	TOPMed,gnomAD
rs1481847293	p.Pro772Gln	missense variant	-	NC_000019.10:g.5229525G>T	gnomAD
rs1259120475	p.Arg773His	missense variant	-	NC_000019.10:g.5229522C>T	gnomAD
rs746107616	p.Val777Ile	missense variant	-	NC_000019.10:g.5229511C>T	ExAC,TOPMed,gnomAD
rs1298629875	p.Met778Ile	missense variant	-	NC_000019.10:g.5229506C>G	TOPMed
rs1303613614	p.Asp781Asn	missense variant	-	NC_000019.10:g.5229499C>T	TOPMed,gnomAD
rs761681941	p.Thr786Met	missense variant	-	NC_000019.10:g.5229335G>A	ExAC,TOPMed,gnomAD
rs761681941	p.Thr786Arg	missense variant	-	NC_000019.10:g.5229335G>C	ExAC,TOPMed,gnomAD
rs1390648362	p.Asp788His	missense variant	-	NC_000019.10:g.5229330C>G	gnomAD
rs181439211	p.Tyr792His	missense variant	-	NC_000019.10:g.5229318A>G	1000Genomes,ExAC,gnomAD
rs765509959	p.Glu793Gln	missense variant	-	NC_000019.10:g.5225844C>G	ExAC,gnomAD
rs1302269744	p.Val795Ala	missense variant	-	NC_000019.10:g.5225837A>G	TOPMed
rs1231581355	p.Val795Ile	missense variant	-	NC_000019.10:g.5225838C>T	TOPMed
rs1313547507	p.Thr797Arg	missense variant	-	NC_000019.10:g.5225831G>C	gnomAD
rs369508635	p.Asn798Asp	missense variant	-	NC_000019.10:g.5225829T>C	ESP,ExAC,gnomAD
rs1469389508	p.Pro801Ala	missense variant	-	NC_000019.10:g.5225820G>C	gnomAD
rs747172851	p.Glu802Asp	missense variant	-	NC_000019.10:g.5225815C>G	ExAC,TOPMed,gnomAD
rs202087387	p.Ala804Pro	missense variant	-	NC_000019.10:g.5225811C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202087387	p.Ala804Thr	missense variant	-	NC_000019.10:g.5225811C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772609224	p.Ala804Val	missense variant	-	NC_000019.10:g.5225810G>A	ExAC,gnomAD
rs756860719	p.Ile807Val	missense variant	-	NC_000019.10:g.5225802T>C	ExAC,gnomAD
rs756860719	p.Ile807Leu	missense variant	-	NC_000019.10:g.5225802T>G	ExAC,gnomAD
rs748896771	p.Thr808Arg	missense variant	-	NC_000019.10:g.5225798G>C	ExAC,TOPMed,gnomAD
rs748896771	p.Thr808Met	missense variant	-	NC_000019.10:g.5225798G>A	ExAC,TOPMed,gnomAD
rs755562182	p.Ala810Thr	missense variant	-	NC_000019.10:g.5225793C>T	ExAC,TOPMed,gnomAD
rs1340374850	p.Ala811Thr	missense variant	-	NC_000019.10:g.5225790C>T	TOPMed,gnomAD
rs1338543715	p.Met814Thr	missense variant	-	NC_000019.10:g.5225780A>G	gnomAD
rs755012048	p.Lys815Arg	missense variant	-	NC_000019.10:g.5225777T>C	ExAC,gnomAD
rs1159864455	p.Asp817Asn	missense variant	-	NC_000019.10:g.5225772C>T	TOPMed
rs751437578	p.Ala819Thr	missense variant	-	NC_000019.10:g.5225766C>T	ExAC,TOPMed,gnomAD
rs1012604149	p.Arg820His	missense variant	-	NC_000019.10:g.5225762C>T	TOPMed,gnomAD
rs1023625190	p.Arg820Gly	missense variant	-	NC_000019.10:g.5225763G>C	TOPMed,gnomAD
rs1023625190	p.Arg820Cys	missense variant	-	NC_000019.10:g.5225763G>A	TOPMed,gnomAD
rs1475868980	p.Lys822Arg	missense variant	-	NC_000019.10:g.5225756T>C	gnomAD
rs776708266	p.Val826Ile	missense variant	-	NC_000019.10:g.5225745C>T	ExAC,gnomAD
rs764444823	p.Gly830Arg	missense variant	-	NC_000019.10:g.5225733C>T	ExAC,gnomAD
rs1015526594	p.Ala831Val	missense variant	-	NC_000019.10:g.5225729G>A	TOPMed,gnomAD
rs538765384	p.Ala831Thr	missense variant	-	NC_000019.10:g.5225730C>T	1000Genomes,ExAC,gnomAD
rs1205852773	p.Gly834Ser	missense variant	-	NC_000019.10:g.5223292C>T	gnomAD
rs746587534	p.Arg835His	missense variant	-	NC_000019.10:g.5223288C>T	ExAC,TOPMed,gnomAD
rs141070507	p.Arg835Cys	missense variant	-	NC_000019.10:g.5223289G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1169291996	p.Thr837Ile	missense variant	-	NC_000019.10:g.5223282G>A	TOPMed
rs201908599	p.Leu838Gln	missense variant	-	NC_000019.10:g.5223279A>T	1000Genomes,ExAC,gnomAD
rs758410040	p.Ser839Ter	stop gained	-	NC_000019.10:g.5223276G>T	ExAC,TOPMed,gnomAD
rs758410040	p.Ser839Leu	missense variant	-	NC_000019.10:g.5223276G>A	ExAC,TOPMed,gnomAD
rs1449294721	p.Gln841Ter	stop gained	-	NC_000019.10:g.5223271G>A	TOPMed
rs1305092282	p.Thr843Asn	missense variant	-	NC_000019.10:g.5223264G>T	TOPMed
rs752927950	p.Pro844Ser	missense variant	-	NC_000019.10:g.5223262G>A	ExAC,gnomAD
rs759604875	p.Glu845Gln	missense variant	-	NC_000019.10:g.5223259C>G	ExAC,TOPMed,gnomAD
rs759604875	p.Glu845Lys	missense variant	-	NC_000019.10:g.5223259C>T	ExAC,TOPMed,gnomAD
rs1433614221	p.Glu845Ala	missense variant	-	NC_000019.10:g.5223258T>G	gnomAD
rs1375643869	p.Gly846Asp	missense variant	-	NC_000019.10:g.5223255C>T	gnomAD
rs766771400	p.Leu849Gln	missense variant	-	NC_000019.10:g.5223246A>T	ExAC,gnomAD
rs1407721470	p.Ala850Val	missense variant	-	NC_000019.10:g.5223243G>A	gnomAD
rs763535247	p.Arg851Cys	missense variant	-	NC_000019.10:g.5223241G>A	ExAC,TOPMed,gnomAD
rs199604489	p.Arg851Leu	missense variant	-	NC_000019.10:g.5223240C>A	ESP,ExAC,TOPMed,gnomAD
rs199604489	p.Arg851His	missense variant	-	NC_000019.10:g.5223240C>T	ESP,ExAC,TOPMed,gnomAD
RCV000754561	p.Arg851Leu	missense variant	-	NC_000019.10:g.5223240C>A	ClinVar
rs115276698	p.Glu853Ala	missense variant	-	NC_000019.10:g.5223234T>G	1000Genomes,TOPMed,gnomAD
rs961564035	p.Glu853Asp	missense variant	-	NC_000019.10:g.5223233C>G	TOPMed,gnomAD
rs1239019907	p.Glu853Lys	missense variant	-	NC_000019.10:g.5223235C>T	TOPMed
rs776422958	p.Pro854Ser	missense variant	-	NC_000019.10:g.5223232G>A	ExAC,gnomAD
rs1263196047	p.Pro854Leu	missense variant	-	NC_000019.10:g.5223231G>A	TOPMed
rs776422958	p.Pro854Thr	missense variant	-	NC_000019.10:g.5223232G>T	ExAC,gnomAD
rs1214736605	p.Pro855Arg	missense variant	-	NC_000019.10:g.5223228G>C	gnomAD
rs1214736605	p.Pro855Leu	missense variant	-	NC_000019.10:g.5223228G>A	gnomAD
rs1173800965	p.Thr858Ala	missense variant	-	NC_000019.10:g.5223220T>C	TOPMed
rs200677865	p.Ala859Val	missense variant	-	NC_000019.10:g.5223216G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1224185745	p.Ala859Thr	missense variant	-	NC_000019.10:g.5223217C>T	TOPMed,gnomAD
rs1413585604	p.Asp861Asn	missense variant	-	NC_000019.10:g.5223211C>T	gnomAD
rs1314259486	p.Gln862Glu	missense variant	-	NC_000019.10:g.5223208G>C	gnomAD
rs1451171996	p.Val863Ala	missense variant	-	NC_000019.10:g.5223204A>G	gnomAD
rs1160265804	p.Gly865Ser	missense variant	-	NC_000019.10:g.5223199C>T	TOPMed,gnomAD
rs1416280955	p.Arg867His	missense variant	-	NC_000019.10:g.5223192C>T	TOPMed,gnomAD
rs371360214	p.Arg867Cys	missense variant	-	NC_000019.10:g.5223193G>A	ESP,ExAC,TOPMed,gnomAD
rs781357409	p.Gln869Ter	stop gained	-	NC_000019.10:g.5223187G>A	ExAC,gnomAD
rs1028115213	p.Gln869Pro	missense variant	-	NC_000019.10:g.5223186T>G	TOPMed
rs151114416	p.Arg872Cys	missense variant	-	NC_000019.10:g.5223178G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374591804	p.Arg872Pro	missense variant	-	NC_000019.10:g.5223177C>G	ESP,ExAC,TOPMed,gnomAD
rs374591804	p.Arg872His	missense variant	-	NC_000019.10:g.5223177C>T	ESP,ExAC,TOPMed,gnomAD
rs1488973838	p.Glu873Ala	missense variant	-	NC_000019.10:g.5223174T>G	TOPMed
rs750931777	p.Asp874Glu	missense variant	-	NC_000019.10:g.5223170G>T	ExAC,TOPMed,gnomAD
rs1478125902	p.Ser875Trp	missense variant	-	NC_000019.10:g.5223168G>C	TOPMed
rs372181642	p.Thr876Met	missense variant	-	NC_000019.10:g.5223165G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763791689	p.Pro877Thr	missense variant	-	NC_000019.10:g.5223163G>T	ExAC,gnomAD
rs1294580214	p.Pro877Leu	missense variant	-	NC_000019.10:g.5223162G>A	gnomAD
rs763791689	p.Pro877Ser	missense variant	-	NC_000019.10:g.5223163G>A	ExAC,gnomAD
rs1428091133	p.Leu878Pro	missense variant	-	NC_000019.10:g.5223159A>G	gnomAD
rs760436118	p.Leu878Val	missense variant	-	NC_000019.10:g.5223160G>C	ExAC,TOPMed,gnomAD
rs1332317323	p.Thr880Asn	missense variant	-	NC_000019.10:g.5223153G>T	TOPMed,gnomAD
rs771623625	p.Leu881Val	missense variant	-	NC_000019.10:g.5223151G>C	ExAC,gnomAD
rs1322918895	p.Phe883Leu	missense variant	-	NC_000019.10:g.5223145A>G	TOPMed
rs745426688	p.Pro884Leu	missense variant	-	NC_000019.10:g.5223141G>A	ExAC,TOPMed,gnomAD
rs1164749059	p.Pro884Ser	missense variant	-	NC_000019.10:g.5223142G>A	TOPMed,gnomAD
rs1168390637	p.Pro885Thr	missense variant	-	NC_000019.10:g.5223139G>T	gnomAD
rs774339890	p.Pro885Leu	missense variant	-	NC_000019.10:g.5223138G>A	ExAC,TOPMed,gnomAD
rs1007529586	p.Glu887Lys	missense variant	-	NC_000019.10:g.5223133C>T	TOPMed,gnomAD
rs148744813	p.Arg889Gly	missense variant	-	NC_000019.10:g.5223127G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148744813	p.Arg889Cys	missense variant	-	NC_000019.10:g.5223127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747248153	p.Arg889His	missense variant	-	NC_000019.10:g.5223126C>T	ExAC,gnomAD
rs780201997	p.Tyr890His	missense variant	-	NC_000019.10:g.5223124A>G	ExAC,gnomAD
rs375155482	p.Thr891Met	missense variant	-	NC_000019.10:g.5223120G>A	ESP,ExAC,TOPMed,gnomAD
rs765752538	p.Ala892Thr	missense variant	-	NC_000019.10:g.5223118C>T	ExAC,gnomAD
rs757862631	p.Ala892Val	missense variant	-	NC_000019.10:g.5223117G>A	ExAC,gnomAD
rs748343733	p.Ser893Leu	missense variant	-	NC_000019.10:g.5223114G>A	gnomAD
rs754216245	p.Gly894Val	missense variant	-	NC_000019.10:g.5223111C>A	ExAC,gnomAD
rs764560600	p.Val895Met	missense variant	-	NC_000019.10:g.5223109C>T	ExAC,TOPMed,gnomAD
rs539486011	p.His896Gln	missense variant	-	NC_000019.10:g.5223104G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs550128751	p.His896Tyr	missense variant	-	NC_000019.10:g.5223106G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1296988917	p.Lys897Arg	missense variant	-	NC_000019.10:g.5223102T>C	gnomAD
rs909751365	p.Ala899Val	missense variant	-	NC_000019.10:g.5223096G>A	TOPMed
rs370681168	p.Ala899Ser	missense variant	-	NC_000019.10:g.5223097C>A	ESP,ExAC,TOPMed,gnomAD
rs773778652	p.Thr900Met	missense variant	-	NC_000019.10:g.5223093G>A	ExAC,gnomAD
rs1192744560	p.Val902Glu	missense variant	-	NC_000019.10:g.5223087A>T	TOPMed,gnomAD
rs377203716	p.Arg904Gln	missense variant	-	NC_000019.10:g.5223081C>T	ESP,ExAC,TOPMed,gnomAD
rs1269321557	p.Arg904Trp	missense variant	-	NC_000019.10:g.5223082G>A	TOPMed,gnomAD
rs1479985617	p.Leu905Phe	missense variant	-	NC_000019.10:g.5223079G>A	TOPMed,gnomAD
rs1251374260	p.Ala906Val	missense variant	-	NC_000019.10:g.5223075G>A	gnomAD
rs200860780	p.Ala907Val	missense variant	-	NC_000019.10:g.5223072G>A	ESP,ExAC,TOPMed,gnomAD
rs200860780	p.Ala907Gly	missense variant	-	NC_000019.10:g.5223072G>C	ESP,ExAC,TOPMed,gnomAD
rs1020631416	p.Arg908Gln	missense variant	-	NC_000019.10:g.5223069C>T	TOPMed
rs370397015	p.Arg908Trp	missense variant	-	NC_000019.10:g.5223070G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1369452734	p.Arg910Cys	missense variant	-	NC_000019.10:g.5223064G>A	gnomAD
rs1305417503	p.Arg910His	missense variant	-	NC_000019.10:g.5223063C>T	TOPMed,gnomAD
rs374643204	p.Gly911Ser	missense variant	-	NC_000019.10:g.5223061C>T	ESP,ExAC,TOPMed,gnomAD
rs906063149	p.Gly912Ser	missense variant	-	NC_000019.10:g.5223058C>T	TOPMed,gnomAD
rs1014303618	p.Leu913Pro	missense variant	-	NC_000019.10:g.5223054A>G	TOPMed,gnomAD
rs1014303618	p.Leu913Arg	missense variant	-	NC_000019.10:g.5223054A>C	TOPMed,gnomAD
rs1354306749	p.Leu913Val	missense variant	-	NC_000019.10:g.5223055G>C	gnomAD
rs1379163672	p.Glu915Lys	missense variant	-	NC_000019.10:g.5223049C>T	TOPMed,gnomAD
rs527272427	p.Glu916Val	missense variant	-	NC_000019.10:g.5223045T>A	1000Genomes,TOPMed,gnomAD
rs527272427	p.Glu916Ala	missense variant	-	NC_000019.10:g.5223045T>G	1000Genomes,TOPMed,gnomAD
rs1394120193	p.Glu916Lys	missense variant	-	NC_000019.10:g.5223046C>T	TOPMed
rs1037036904	p.Ala917Val	missense variant	-	NC_000019.10:g.5223042G>A	TOPMed
rs1316753061	p.Ala918Asp	missense variant	-	NC_000019.10:g.5223039G>T	TOPMed
rs1251215196	p.Glu919Ala	missense variant	-	NC_000019.10:g.5223036T>G	gnomAD
rs909875098	p.Ser922Gly	missense variant	-	NC_000019.10:g.5223028T>C	TOPMed
rs370088739	p.Pro924Leu	missense variant	-	NC_000019.10:g.5223021G>A	ESP,ExAC,TOPMed,gnomAD
rs1211174007	p.Pro924Ala	missense variant	-	NC_000019.10:g.5223022G>C	gnomAD
rs767176479	p.Asp926Tyr	missense variant	-	NC_000019.10:g.5223016C>A	ExAC,gnomAD
rs956514858	p.Asp926Glu	missense variant	-	NC_000019.10:g.5223014G>C	TOPMed
rs759129843	p.Thr927Lys	missense variant	-	NC_000019.10:g.5223012G>T	ExAC,TOPMed,gnomAD
rs759129843	p.Thr927Met	missense variant	-	NC_000019.10:g.5223012G>A	ExAC,TOPMed,gnomAD
rs1478220397	p.Pro928Leu	missense variant	-	NC_000019.10:g.5223009G>A	TOPMed
rs1313647555	p.Arg929Pro	missense variant	-	NC_000019.10:g.5223006C>G	TOPMed,gnomAD
rs61729778	p.Arg929Cys	missense variant	-	NC_000019.10:g.5223007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1313647555	p.Arg929His	missense variant	-	NC_000019.10:g.5223006C>T	TOPMed,gnomAD
rs1416848107	p.Gly930Ser	missense variant	-	NC_000019.10:g.5223004C>T	gnomAD
rs1202103155	p.His931Gln	missense variant	-	NC_000019.10:g.5222999G>T	gnomAD
rs1402658601	p.His931Pro	missense variant	-	NC_000019.10:g.5223000T>G	TOPMed
rs1156567371	p.Pro932Leu	missense variant	-	NC_000019.10:g.5222997G>A	gnomAD
rs1156567371	p.Pro932Arg	missense variant	-	NC_000019.10:g.5222997G>C	gnomAD
rs1364268470	p.Gln933His	missense variant	-	NC_000019.10:g.5222993C>G	gnomAD
rs1161310685	p.Ile934Ser	missense variant	-	NC_000019.10:g.5222991A>C	gnomAD
rs1064296	p.Leu935Val	missense variant	-	NC_000019.10:g.5222989G>C	TOPMed,gnomAD
rs762510209	p.Ala937Val	missense variant	-	NC_000019.10:g.5222982G>A	ExAC,TOPMed,gnomAD
rs1443767326	p.Ala938Thr	missense variant	-	NC_000019.10:g.5222980C>T	gnomAD
rs182769562	p.Asn940Lys	missense variant	-	NC_000019.10:g.5222972G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772298342	p.Ala941Val	missense variant	-	NC_000019.10:g.5222970G>A	ExAC,TOPMed,gnomAD
rs201435229	p.Ala941Thr	missense variant	-	NC_000019.10:g.5222971C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1285984808	p.Ser942Pro	missense variant	-	NC_000019.10:g.5222968A>G	TOPMed
rs1293966082	p.Ser942Leu	missense variant	-	NC_000019.10:g.5222967G>A	gnomAD
rs1014796224	p.Gly944Arg	missense variant	-	NC_000019.10:g.5222962C>T	TOPMed,gnomAD
rs895982467	p.Thr945Ser	missense variant	-	NC_000019.10:g.5222959T>A	TOPMed,gnomAD
rs1385418553	p.Thr945Ser	missense variant	-	NC_000019.10:g.5222958G>C	TOPMed,gnomAD
rs1385418553	p.Thr945Ile	missense variant	-	NC_000019.10:g.5222958G>A	TOPMed,gnomAD
rs895982467	p.Thr945Ala	missense variant	-	NC_000019.10:g.5222959T>C	TOPMed,gnomAD
rs778392508	p.Val946Ile	missense variant	-	NC_000019.10:g.5222956C>T	ExAC,TOPMed,gnomAD
rs1370939047	p.Arg949His	missense variant	-	NC_000019.10:g.5222946C>T	gnomAD
rs781437725	p.Arg949Cys	missense variant	-	NC_000019.10:g.5222947G>A	ExAC,TOPMed,gnomAD
rs1420265669	p.Pro952Arg	missense variant	-	NC_000019.10:g.5222937G>C	TOPMed
rs749987801	p.Val954Met	missense variant	-	NC_000019.10:g.5222932C>T	ExAC,gnomAD
rs749987801	p.Val954Leu	missense variant	-	NC_000019.10:g.5222932C>A	ExAC,gnomAD
rs1048404327	p.Pro955Leu	missense variant	-	NC_000019.10:g.5222928G>A	TOPMed,gnomAD
rs1385812531	p.Pro955Ser	missense variant	-	NC_000019.10:g.5222929G>A	TOPMed
rs564427160	p.Ala956Thr	missense variant	-	NC_000019.10:g.5222926C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1337555183	p.Ala956Gly	missense variant	-	NC_000019.10:g.5222925G>C	gnomAD
rs768350891	p.Glu957Gln	missense variant	-	NC_000019.10:g.5222923C>G	ExAC,TOPMed,gnomAD
rs768350891	p.Glu957Lys	missense variant	-	NC_000019.10:g.5222923C>T	ExAC,TOPMed,gnomAD
rs760578565	p.Arg958Cys	missense variant	-	NC_000019.10:g.5222920G>A	ExAC,TOPMed,gnomAD
rs374990235	p.Arg958His	missense variant	-	NC_000019.10:g.5222919C>T	ESP,ExAC,gnomAD
rs749356058	p.Gly960Arg	missense variant	-	NC_000019.10:g.5222914C>T	ExAC,TOPMed,gnomAD
rs770291253	p.Ile962Val	missense variant	-	NC_000019.10:g.5222908T>C	ExAC,TOPMed,gnomAD
rs62113240	p.Val963Ile	missense variant	-	NC_000019.10:g.5222905C>T	ExAC,gnomAD
rs1379482387	p.Lys964Glu	missense variant	-	NC_000019.10:g.5222902T>C	TOPMed
rs1440176761	p.Lys964Asn	missense variant	-	NC_000019.10:g.5222900T>G	TOPMed
rs915133073	p.Thr966Met	missense variant	-	NC_000019.10:g.5222895G>A	TOPMed
rs747443047	p.Ala968Val	missense variant	-	NC_000019.10:g.5222889G>A	ExAC,gnomAD
rs758072738	p.Val969Met	missense variant	-	NC_000019.10:g.5222887C>T	ExAC,gnomAD
rs764731638	p.Arg970Gln	missense variant	-	NC_000019.10:g.5222883C>T	ExAC,TOPMed,gnomAD
rs369041852	p.Arg970Trp	missense variant	-	NC_000019.10:g.5222884G>A	ESP,ExAC,TOPMed,gnomAD
rs1272370030	p.Ala972Val	missense variant	-	NC_000019.10:g.5222877G>A	gnomAD
rs372440262	p.Gly973Ser	missense variant	-	NC_000019.10:g.5222875C>T	ESP,ExAC,TOPMed,gnomAD
rs912026736	p.Ala974Pro	missense variant	-	NC_000019.10:g.5222872C>G	TOPMed,gnomAD
rs1369997087	p.Ala974Val	missense variant	-	NC_000019.10:g.5222871G>A	gnomAD
rs912026736	p.Ala974Thr	missense variant	-	NC_000019.10:g.5222872C>T	TOPMed,gnomAD
rs986697718	p.Gly976Val	missense variant	-	NC_000019.10:g.5222865C>A	TOPMed,gnomAD
rs1410080119	p.Pro977Thr	missense variant	-	NC_000019.10:g.5222863G>T	gnomAD
rs1171385518	p.Ala978Val	missense variant	-	NC_000019.10:g.5222859G>A	gnomAD
rs1028304582	p.Arg979Ter	stop gained	-	NC_000019.10:g.5222857G>A	TOPMed,gnomAD
rs1193352037	p.Arg979Gln	missense variant	-	NC_000019.10:g.5222856C>T	gnomAD
rs1028304582	p.Arg979Gly	missense variant	-	NC_000019.10:g.5222857G>C	TOPMed,gnomAD
rs773355226	p.Thr981Ser	missense variant	-	NC_000019.10:g.5222851T>A	ExAC,gnomAD
rs1484090676	p.Thr981Ser	missense variant	-	NC_000019.10:g.5222850G>C	TOPMed,gnomAD
rs1484090676	p.Thr981Ile	missense variant	-	NC_000019.10:g.5222850G>A	TOPMed,gnomAD
rs776974729	p.Pro984Leu	missense variant	-	NC_000019.10:g.5222841G>A	ExAC,TOPMed,gnomAD
rs1348958046	p.Pro984Thr	missense variant	-	NC_000019.10:g.5222842G>T	gnomAD
rs747329678	p.Ala985Gly	missense variant	-	NC_000019.10:g.5222838G>C	ExAC,gnomAD
rs747329678	p.Ala985Val	missense variant	-	NC_000019.10:g.5222838G>A	ExAC,gnomAD
rs368886554	p.Ala986Val	missense variant	-	NC_000019.10:g.5222835G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs868294368	p.Ala987Ser	missense variant	-	NC_000019.10:g.5222833C>A	gnomAD
rs1359440247	p.Pro989Ser	missense variant	-	NC_000019.10:g.5222827G>A	gnomAD
rs756719219	p.Pro989Leu	missense variant	-	NC_000019.10:g.5222826G>A	ExAC,gnomAD
rs201357930	p.Ala991Thr	missense variant	-	NC_000019.10:g.5222821C>T	ESP,ExAC,TOPMed,gnomAD
rs2230610	p.Ala991Val	missense variant	-	NC_000019.10:g.5222820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368236845	p.Glu992Ala	missense variant	-	NC_000019.10:g.5222817T>G	ESP,ExAC,TOPMed,gnomAD
rs368236845	p.Glu992Gly	missense variant	-	NC_000019.10:g.5222817T>C	ESP,ExAC,TOPMed,gnomAD
rs201423065	p.Ala994Thr	missense variant	-	NC_000019.10:g.5222812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370623380	p.Ala994Val	missense variant	-	NC_000019.10:g.5222811G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1228933665	p.Leu995Phe	missense variant	-	NC_000019.10:g.5222809G>A	gnomAD
rs775778266	p.Thr996Met	missense variant	-	NC_000019.10:g.5222805G>A	ExAC,TOPMed,gnomAD
rs1379393228	p.Gln998Ter	stop gained	-	NC_000019.10:g.5222800G>A	gnomAD
rs746300376	p.Gln998Arg	missense variant	-	NC_000019.10:g.5222799T>C	ExAC,TOPMed,gnomAD
rs936424649	p.Gly999Ser	missense variant	-	NC_000019.10:g.5222797C>T	TOPMed
rs1416406546	p.Lys1001Asn	missense variant	-	NC_000019.10:g.5222789C>G	gnomAD
rs770663085	p.Pro1002His	missense variant	-	NC_000019.10:g.5222787G>T	ExAC,TOPMed,gnomAD
rs752695186	p.Asp1003Glu	missense variant	-	NC_000019.10:g.5222783G>T	ExAC,TOPMed,gnomAD
rs756049037	p.Asp1003Asn	missense variant	-	NC_000019.10:g.5222785C>T	ExAC,TOPMed,gnomAD
rs781335825	p.Thr1004Ala	missense variant	-	NC_000019.10:g.5222782T>C	ExAC,gnomAD
rs754813198	p.Thr1004Met	missense variant	-	NC_000019.10:g.5222781G>A	ExAC,gnomAD
rs762127352	p.Ala1005Ser	missense variant	-	NC_000019.10:g.5222779C>A	ExAC,gnomAD
rs753793633	p.Ala1005Val	missense variant	-	NC_000019.10:g.5222778G>A	ExAC,gnomAD
rs1174340046	p.Tyr1006His	missense variant	-	NC_000019.10:g.5222776A>G	TOPMed
rs772609297	p.Asp1007Glu	missense variant	-	NC_000019.10:g.5222771G>T	ExAC,TOPMed,gnomAD
rs943824465	p.Gln1009Lys	missense variant	-	NC_000019.10:g.5222767G>T	TOPMed,gnomAD
rs943824465	p.Gln1009Ter	stop gained	-	NC_000019.10:g.5222767G>A	TOPMed,gnomAD
rs1360908131	p.Val1010Leu	missense variant	-	NC_000019.10:g.5222764C>G	gnomAD
rs770446171	p.Arg1011Ter	stop gained	-	NC_000019.10:g.5222761G>A	ExAC,gnomAD
rs1392874652	p.Arg1011Gln	missense variant	-	NC_000019.10:g.5222760C>T	TOPMed,gnomAD
rs777089062	p.Ala1012Val	missense variant	-	NC_000019.10:g.5222757G>A	ExAC,gnomAD
rs1391073074	p.Thr1014Met	missense variant	-	NC_000019.10:g.5222751G>A	gnomAD
rs1428131078	p.Thr1014Ala	missense variant	-	NC_000019.10:g.5222752T>C	gnomAD
rs751272492	p.Arg1015His	missense variant	-	NC_000019.10:g.5222748C>T	ExAC,TOPMed,gnomAD
rs751272492	p.Arg1015Pro	missense variant	-	NC_000019.10:g.5222748C>G	ExAC,TOPMed,gnomAD
rs199829286	p.Arg1015Cys	missense variant	-	NC_000019.10:g.5222749G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779903263	p.Arg1016Trp	missense variant	-	NC_000019.10:g.5222746G>A	ExAC,TOPMed,gnomAD
rs374799314	p.Arg1016Gln	missense variant	-	NC_000019.10:g.5222745C>T	ExAC,TOPMed,gnomAD
rs374799314	p.Arg1016Pro	missense variant	-	NC_000019.10:g.5222745C>G	ExAC,TOPMed,gnomAD
rs1306524101	p.Pro1020Thr	missense variant	-	NC_000019.10:g.5222734G>T	TOPMed,gnomAD
rs1231013843	p.Ser1022Gly	missense variant	-	NC_000019.10:g.5222728T>C	gnomAD
rs752821383	p.Pro1023Ser	missense variant	-	NC_000019.10:g.5222725G>A	ExAC,TOPMed,gnomAD
rs1303233646	p.Pro1023Arg	missense variant	-	NC_000019.10:g.5222724G>C	gnomAD
rs752821383	p.Pro1023Thr	missense variant	-	NC_000019.10:g.5222725G>T	ExAC,TOPMed,gnomAD
rs1303233646	p.Pro1023Leu	missense variant	-	NC_000019.10:g.5222724G>A	gnomAD
rs752821383	p.Pro1023Ala	missense variant	-	NC_000019.10:g.5222725G>C	ExAC,TOPMed,gnomAD
rs772912033	p.Pro1024His	missense variant	-	NC_000019.10:g.5222721G>T	ExAC,TOPMed,gnomAD
rs772912033	p.Pro1024Arg	missense variant	-	NC_000019.10:g.5222721G>C	ExAC,TOPMed,gnomAD
rs202163446	p.Pro1024Ala	missense variant	-	NC_000019.10:g.5222722G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202163446	p.Pro1024Ser	missense variant	-	NC_000019.10:g.5222722G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs202163446	p.Pro1024Thr	missense variant	-	NC_000019.10:g.5222722G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772912033	p.Pro1024Leu	missense variant	-	NC_000019.10:g.5222721G>A	ExAC,TOPMed,gnomAD
rs374875451	p.Val1025Ile	missense variant	-	NC_000019.10:g.5222719C>T	ESP,ExAC,TOPMed
rs374875451	p.Val1025Phe	missense variant	-	NC_000019.10:g.5222719C>A	ESP,ExAC,TOPMed
rs746980740	p.Arg1026Cys	missense variant	-	NC_000019.10:g.5222716G>A	ExAC,TOPMed,gnomAD
rs779918003	p.Arg1026His	missense variant	-	NC_000019.10:g.5222715C>T	ExAC,TOPMed,gnomAD
rs745694014	p.Tyr1027Cys	missense variant	-	NC_000019.10:g.5222712T>C	ExAC,TOPMed,gnomAD
rs769764410	p.Arg1028Trp	missense variant	-	NC_000019.10:g.5222710G>A	ExAC,TOPMed,gnomAD
rs769764410	p.Arg1028Gly	missense variant	-	NC_000019.10:g.5222710G>C	ExAC,TOPMed,gnomAD
rs752731468	p.Arg1028Gln	missense variant	-	NC_000019.10:g.5222709C>T	ExAC,TOPMed,gnomAD
rs767586201	p.Thr1029Met	missense variant	-	NC_000019.10:g.5222706G>A	ExAC,TOPMed,gnomAD
rs1206861930	p.Leu1031Pro	missense variant	-	NC_000019.10:g.5222700A>G	TOPMed,gnomAD
rs766862256	p.Arg1032Gly	missense variant	-	NC_000019.10:g.5222698G>C	ExAC,TOPMed,gnomAD
rs370399999	p.Arg1032Gln	missense variant	-	NC_000019.10:g.5222697C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766862256	p.Arg1032Trp	missense variant	-	NC_000019.10:g.5222698G>A	ExAC,TOPMed,gnomAD
rs773496700	p.Asp1033Asn	missense variant	-	NC_000019.10:g.5222695C>T	ExAC,gnomAD
rs1351187602	p.Asp1033Glu	missense variant	-	NC_000019.10:g.5222693G>C	gnomAD
rs372067337	p.Ser1036Leu	missense variant	-	NC_000019.10:g.5222217G>A	ESP,ExAC,TOPMed,gnomAD
rs759102109	p.Asn1039Ser	missense variant	-	NC_000019.10:g.5222208T>C	ExAC,gnomAD
rs1174993660	p.Lys1041Met	missense variant	-	NC_000019.10:g.5222202T>A	gnomAD
rs774267588	p.Val1042Met	missense variant	-	NC_000019.10:g.5222200C>T	ExAC,gnomAD
rs1211765615	p.Lys1043Glu	missense variant	-	NC_000019.10:g.5222197T>C	gnomAD
rs1329534234	p.Met1044Thr	missense variant	-	NC_000019.10:g.5222193A>G	TOPMed
rs1454313241	p.Met1044Ile	missense variant	-	NC_000019.10:g.5222192C>T	gnomAD
rs1337663643	p.Ile1045Val	missense variant	-	NC_000019.10:g.5222191T>C	TOPMed,gnomAD
rs770895185	p.Ser1049Ala	missense variant	-	NC_000019.10:g.5222179A>C	ExAC,TOPMed,gnomAD
rs146080105	p.Leu1051Val	missense variant	-	NC_000019.10:g.5222173G>C	ESP,ExAC,TOPMed,gnomAD
rs772903486	p.Phe1056Val	missense variant	-	NC_000019.10:g.5222158A>C	ExAC,gnomAD
rs768857484	p.Pro1057Ser	missense variant	-	NC_000019.10:g.5222155G>A	ExAC,gnomAD
rs747212154	p.Asp1058Glu	missense variant	-	NC_000019.10:g.5222150G>C	ExAC,TOPMed,gnomAD
rs780382156	p.Asn1059Lys	missense variant	-	NC_000019.10:g.5222147G>T	ExAC,gnomAD
rs1393807141	p.Tyr1060Ser	missense variant	-	NC_000019.10:g.5222145T>G	TOPMed,gnomAD
rs966517708	p.Thr1064Pro	missense variant	-	NC_000019.10:g.5222134T>G	gnomAD
rs1195525448	p.Thr1064Ile	missense variant	-	NC_000019.10:g.5222133G>A	gnomAD
rs141765312	p.Pro1065Ala	missense variant	-	NC_000019.10:g.5222131G>C	ESP,ExAC,gnomAD
rs779544389	p.Pro1065Leu	missense variant	-	NC_000019.10:g.5222130G>A	ExAC,gnomAD
rs1475035175	p.Gln1069Arg	missense variant	-	NC_000019.10:g.5221249T>C	TOPMed
rs757962488	p.Gln1069Ter	stop gained	-	NC_000019.10:g.5221250G>A	ExAC,gnomAD
rs138649939	p.Leu1073Phe	missense variant	-	NC_000019.10:g.5221238G>A	ESP,ExAC,TOPMed,gnomAD
rs776516569	p.Leu1075Met	missense variant	-	NC_000019.10:g.5221232G>T	ExAC,gnomAD
rs1212037871	p.Val1077Ala	missense variant	-	NC_000019.10:g.5221225A>G	gnomAD
rs767809989	p.Gly1079Asp	missense variant	-	NC_000019.10:g.5221219C>T	ExAC,TOPMed,gnomAD
rs774511967	p.Arg1080Cys	missense variant	-	NC_000019.10:g.5221217G>A	ExAC,TOPMed,gnomAD
rs771119355	p.Arg1080Leu	missense variant	-	NC_000019.10:g.5221216C>A	ExAC,TOPMed,gnomAD
rs771119355	p.Arg1080His	missense variant	-	NC_000019.10:g.5221216C>T	ExAC,TOPMed,gnomAD
rs1316669370	p.Thr1081Ile	missense variant	-	NC_000019.10:g.5221213G>A	TOPMed
rs959828503	p.Thr1082Ile	missense variant	-	NC_000019.10:g.5221210G>A	TOPMed
rs1300507338	p.Lys1083Met	missense variant	-	NC_000019.10:g.5221207T>A	TOPMed
rs1379503828	p.Leu1085Phe	missense variant	-	NC_000019.10:g.5221202G>A	gnomAD
rs200191658	p.Thr1087Met	missense variant	-	NC_000019.10:g.5221195G>A	ExAC,TOPMed,gnomAD
rs1203670272	p.Asn1096Asp	missense variant	-	NC_000019.10:g.5221169T>C	TOPMed
rs202061843	p.Asn1096Ser	missense variant	-	NC_000019.10:g.5221168T>C	ExAC,gnomAD
rs377654164	p.Asn1101Ser	missense variant	-	NC_000019.10:g.5221153T>C	ESP,ExAC,TOPMed,gnomAD
rs1164236147	p.Asn1101Asp	missense variant	-	NC_000019.10:g.5221154T>C	gnomAD
rs575201235	p.Arg1102His	missense variant	-	NC_000019.10:g.5221150C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765040102	p.Gly1103Ser	missense variant	-	NC_000019.10:g.5221148C>T	ExAC,gnomAD
rs1209147609	p.Ser1105Asn	missense variant	-	NC_000019.10:g.5221141C>T	TOPMed
rs1249771341	p.Ser1105Arg	missense variant	-	NC_000019.10:g.5221140G>T	TOPMed
rs544466481	p.Gly1108Ser	missense variant	-	NC_000019.10:g.5221133C>T	gnomAD
rs201447856	p.Thr1112Met	missense variant	-	NC_000019.10:g.5221120G>A	ESP,ExAC,TOPMed,gnomAD
rs769925793	p.Ala1115Thr	missense variant	-	NC_000019.10:g.5221112C>T	ExAC,TOPMed,gnomAD
RCV000754560	p.Ala1115Thr	missense variant	-	NC_000019.10:g.5221112C>T	ClinVar
rs1458048934	p.Thr1117Ser	missense variant	-	NC_000019.10:g.5221105G>C	TOPMed
rs1341900869	p.Phe1119Ser	missense variant	-	NC_000019.10:g.5221099A>G	TOPMed,gnomAD
rs372506721	p.Asn1120Ser	missense variant	-	NC_000019.10:g.5221096T>C	ExAC,TOPMed,gnomAD
rs372506721	p.Asn1120Thr	missense variant	-	NC_000019.10:g.5221096T>G	ExAC,TOPMed,gnomAD
rs748360435	p.Leu1121Val	missense variant	-	NC_000019.10:g.5221094G>C	ExAC,TOPMed
rs769004088	p.Asn1123Asp	missense variant	-	NC_000019.10:g.5221088T>C	ExAC,TOPMed,gnomAD
rs779660659	p.Gly1124Ser	missense variant	-	NC_000019.10:g.5221085C>T	ExAC,TOPMed,gnomAD
rs371881792	p.Val1128Phe	missense variant	-	NC_000019.10:g.5221073C>A	ESP,ExAC,TOPMed,gnomAD
rs371881792	p.Val1128Ile	missense variant	-	NC_000019.10:g.5221073C>T	ESP,ExAC,TOPMed,gnomAD
rs199805837	p.Ala1129Thr	missense variant	-	NC_000019.10:g.5221070C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1209240784	p.Pro1130Ser	missense variant	-	NC_000019.10:g.5221067G>A	TOPMed
rs755938901	p.Asp1135Tyr	missense variant	-	NC_000019.10:g.5221052C>A	ExAC,gnomAD
rs755938901	p.Asp1135His	missense variant	-	NC_000019.10:g.5221052C>G	ExAC,gnomAD
rs140049694	p.Gly1136Ser	missense variant	-	NC_000019.10:g.5221049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs924348462	p.Gly1136Asp	missense variant	-	NC_000019.10:g.5221048C>T	TOPMed,gnomAD
rs914037320	p.Met1139Thr	missense variant	-	NC_000019.10:g.5221039A>G	TOPMed
rs1231130806	p.Met1139Val	missense variant	-	NC_000019.10:g.5221040T>C	gnomAD
rs765371680	p.Gly1145Arg	missense variant	-	NC_000019.10:g.5221022C>G	ExAC,TOPMed,gnomAD
rs866466115	p.Gly1145Asp	missense variant	-	NC_000019.10:g.5221021C>T	TOPMed,gnomAD
rs765371680	p.Gly1145Ser	missense variant	-	NC_000019.10:g.5221022C>T	ExAC,TOPMed,gnomAD
rs1461372872	p.Gln1146His	missense variant	-	NC_000019.10:g.5221017C>G	TOPMed
rs1306330316	p.Gln1146Glu	missense variant	-	NC_000019.10:g.5221019G>C	gnomAD
rs761866681	p.Pro1148His	missense variant	-	NC_000019.10:g.5221012G>T	ExAC,TOPMed,gnomAD
rs760980604	p.Val1149Ala	missense variant	-	NC_000019.10:g.5221009A>G	ExAC,gnomAD
rs147801733	p.Val1149Met	missense variant	-	NC_000019.10:g.5221010C>T	ESP,ExAC,TOPMed,gnomAD
rs772064790	p.Gln1152Arg	missense variant	-	NC_000019.10:g.5221000T>C	gnomAD
rs781048317	p.Ile1156Val	missense variant	-	NC_000019.10:g.5220343T>C	ExAC,TOPMed,gnomAD
rs1286194006	p.Met1158Ile	missense variant	-	NC_000019.10:g.5220335C>T	TOPMed
rs746829913	p.Arg1162Leu	missense variant	-	NC_000019.10:g.5220324C>A	ExAC,gnomAD
rs754772522	p.Arg1162Cys	missense variant	-	NC_000019.10:g.5220325G>A	ExAC,TOPMed,gnomAD
rs746829913	p.Arg1162His	missense variant	-	NC_000019.10:g.5220324C>T	ExAC,gnomAD
rs910146505	p.Ser1164Pro	missense variant	-	NC_000019.10:g.5220319A>G	TOPMed
rs1034131598	p.Arg1165Pro	missense variant	-	NC_000019.10:g.5220315C>G	TOPMed,gnomAD
rs1034131598	p.Arg1165His	missense variant	-	NC_000019.10:g.5220315C>T	TOPMed,gnomAD
rs1326503987	p.Gly1166Arg	missense variant	-	NC_000019.10:g.5220313C>T	gnomAD
rs1465789831	p.Gly1167Asp	missense variant	-	NC_000019.10:g.5220309C>T	gnomAD
rs1263912912	p.Gln1168Arg	missense variant	-	NC_000019.10:g.5220306T>C	gnomAD
rs779149362	p.Phe1169Leu	missense variant	-	NC_000019.10:g.5220302G>T	ExAC,TOPMed,gnomAD
rs779149362	p.Phe1169Leu	missense variant	-	NC_000019.10:g.5220302G>C	ExAC,TOPMed,gnomAD
rs764176169	p.Pro1172Leu	missense variant	-	NC_000019.10:g.5220294G>A	ExAC,TOPMed,gnomAD
rs753240051	p.Gly1174Ser	missense variant	-	NC_000019.10:g.5220289C>T	ExAC,TOPMed,gnomAD
rs774597513	p.Asp1178Asn	missense variant	-	NC_000019.10:g.5220277C>T	ExAC,gnomAD
rs1384602128	p.Asp1178Glu	missense variant	-	NC_000019.10:g.5220275G>C	gnomAD
rs1461228258	p.Met1179Ile	missense variant	-	NC_000019.10:g.5220272C>T	gnomAD
rs1163896977	p.Met1179Thr	missense variant	-	NC_000019.10:g.5220273A>G	TOPMed
rs1389490950	p.Met1179Leu	missense variant	-	NC_000019.10:g.5220274T>G	TOPMed,gnomAD
rs1389490950	p.Met1179Val	missense variant	-	NC_000019.10:g.5220274T>C	TOPMed,gnomAD
rs1388692315	p.Leu1181Pro	missense variant	-	NC_000019.10:g.5220267A>G	gnomAD
rs762696876	p.Leu1181Val	missense variant	-	NC_000019.10:g.5220268G>C	ExAC,TOPMed,gnomAD
rs762696876	p.Leu1181Met	missense variant	-	NC_000019.10:g.5220268G>T	ExAC,TOPMed,gnomAD
rs1168400719	p.Glu1183Gln	missense variant	-	NC_000019.10:g.5220262C>G	gnomAD
rs760546803	p.Ile1185Leu	missense variant	-	NC_000019.10:g.5220151T>G	ExAC
rs1342415870	p.Asp1187Gly	missense variant	-	NC_000019.10:g.5220144T>C	TOPMed
rs771853690	p.Arg1190Pro	missense variant	-	NC_000019.10:g.5220135C>G	ExAC,TOPMed,gnomAD
rs771853690	p.Arg1190Gln	missense variant	-	NC_000019.10:g.5220135C>T	ExAC,TOPMed,gnomAD
rs376266471	p.Gln1192Arg	missense variant	-	NC_000019.10:g.5220129T>C	ESP,ExAC,TOPMed,gnomAD
rs1269111261	p.Arg1194Cys	missense variant	-	NC_000019.10:g.5220124G>A	gnomAD
rs115469963	p.Arg1194His	missense variant	-	NC_000019.10:g.5220123C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781134304	p.Arg1197Trp	missense variant	-	NC_000019.10:g.5220115G>A	ExAC,TOPMed,gnomAD
rs1471312670	p.Arg1197Gln	missense variant	-	NC_000019.10:g.5220114C>T	gnomAD
rs755452432	p.Ser1199Leu	missense variant	-	NC_000019.10:g.5220108G>A	ExAC,TOPMed,gnomAD
rs781371580	p.Arg1200His	missense variant	-	NC_000019.10:g.5220105C>T	ExAC,gnomAD
rs1390942862	p.Arg1200Cys	missense variant	-	NC_000019.10:g.5220106G>A	TOPMed
rs1440713936	p.Gln1201His	missense variant	-	NC_000019.10:g.5220101C>G	TOPMed,gnomAD
rs1204949982	p.Gln1201Ter	stop gained	-	NC_000019.10:g.5220103G>A	gnomAD
rs957224661	p.Glu1203Lys	missense variant	-	NC_000019.10:g.5220097C>T	TOPMed,gnomAD
rs1377303300	p.Val1204Gly	missense variant	-	NC_000019.10:g.5220093A>C	TOPMed
rs750841016	p.Val1204Met	missense variant	-	NC_000019.10:g.5220094C>T	ExAC,gnomAD
rs142918634	p.Arg1206Gln	missense variant	-	NC_000019.10:g.5220087C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142918634	p.Arg1206Pro	missense variant	-	NC_000019.10:g.5220087C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764944959	p.Arg1206Trp	missense variant	-	NC_000019.10:g.5220088G>A	ExAC,TOPMed,gnomAD
rs142918634	p.Arg1206Leu	missense variant	-	NC_000019.10:g.5220087C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760302776	p.Ile1209Val	missense variant	-	NC_000019.10:g.5220079T>C	ExAC,gnomAD
rs542361035	p.Arg1212Ser	missense variant	-	NC_000019.10:g.5220070G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs542361035	p.Arg1212Cys	missense variant	-	NC_000019.10:g.5220070G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs375875548	p.Arg1212His	missense variant	-	NC_000019.10:g.5220069C>T	ESP,ExAC,TOPMed,gnomAD
rs769934024	p.Val1215Gly	missense variant	-	NC_000019.10:g.5220060A>C	ExAC,gnomAD
rs774159488	p.Val1215Leu	missense variant	-	NC_000019.10:g.5220061C>A	ExAC,TOPMed,gnomAD
rs1265450607	p.Thr1219Met	missense variant	-	NC_000019.10:g.5220048G>A	TOPMed
rs114904537	p.His1221Asn	missense variant	-	NC_000019.10:g.5220043G>T	1000Genomes
rs768612717	p.Pro1222Leu	missense variant	-	NC_000019.10:g.5220039G>A	ExAC,gnomAD
rs372619078	p.Pro1222Ala	missense variant	-	NC_000019.10:g.5220040G>C	ESP,ExAC,TOPMed,gnomAD
rs145842090	p.Asp1224Asn	missense variant	-	NC_000019.10:g.5220034C>T	ESP,ExAC,gnomAD
rs779435853	p.Gln1225His	missense variant	-	NC_000019.10:g.5220029C>G	ExAC,TOPMed,gnomAD
rs746169857	p.Gln1225Arg	missense variant	-	NC_000019.10:g.5220030T>C	ExAC,gnomAD
rs757700265	p.Gln1227Pro	missense variant	-	NC_000019.10:g.5220024T>G	ExAC,TOPMed,gnomAD
rs757700265	p.Gln1227Arg	missense variant	-	NC_000019.10:g.5220024T>C	ExAC,TOPMed,gnomAD
rs1176871419	p.Tyr1228Asn	missense variant	-	NC_000019.10:g.5220022A>T	TOPMed
rs202004674	p.Gly1230Ser	missense variant	-	NC_000019.10:g.5220016C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1433499108	p.Gly1230Asp	missense variant	-	NC_000019.10:g.5220015C>T	gnomAD
rs752222706	p.Asp1232Asn	missense variant	-	NC_000019.10:g.5220010C>T	ExAC,TOPMed,gnomAD
rs752222706	p.Asp1232His	missense variant	-	NC_000019.10:g.5220010C>G	ExAC,TOPMed,gnomAD
rs866165812	p.Arg1234Trp	missense variant	-	NC_000019.10:g.5220004G>A	TOPMed,gnomAD
rs767400237	p.Arg1234Pro	missense variant	-	NC_000019.10:g.5220003C>G	ExAC,TOPMed,gnomAD
rs767400237	p.Arg1234Gln	missense variant	-	NC_000019.10:g.5220003C>T	ExAC,TOPMed,gnomAD
rs759472181	p.Gly1235Val	missense variant	-	NC_000019.10:g.5220000C>A	ExAC,TOPMed,gnomAD
rs759472181	p.Gly1235Asp	missense variant	-	NC_000019.10:g.5220000C>T	ExAC,TOPMed,gnomAD
rs200307602	p.Glu1237Asp	missense variant	-	NC_000019.10:g.5219993C>A	1000Genomes,ExAC,gnomAD
rs369971329	p.Gly1239Ser	missense variant	-	NC_000019.10:g.5219989C>T	ESP,ExAC,TOPMed,gnomAD
rs202091186	p.Arg1241His	missense variant	-	NC_000019.10:g.5219982C>T	ESP,ExAC,TOPMed,gnomAD
rs201990407	p.Arg1241Cys	missense variant	-	NC_000019.10:g.5219983G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1220355220	p.Leu1247Phe	missense variant	-	NC_000019.10:g.5219965G>A	gnomAD
rs116545788	p.Val1249Met	missense variant	-	NC_000019.10:g.5219959C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757534258	p.Gln1251Arg	missense variant	-	NC_000019.10:g.5219952T>C	ExAC,TOPMed,gnomAD
rs757534258	p.Gln1251Leu	missense variant	-	NC_000019.10:g.5219952T>A	ExAC,TOPMed,gnomAD
rs1296936066	p.Lys1252Glu	missense variant	-	NC_000019.10:g.5219950T>C	gnomAD
rs61743105	p.Ser1253Arg	missense variant	-	NC_000019.10:g.5219945G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777238128	p.Ser1253Asn	missense variant	-	NC_000019.10:g.5219946C>T	ExAC,gnomAD
rs749715659	p.Ser1253Gly	missense variant	-	NC_000019.10:g.5219947T>C	ExAC,gnomAD
rs1405757941	p.Glu1254Lys	missense variant	-	NC_000019.10:g.5219944C>T	TOPMed,gnomAD
rs139608745	p.Pro1255Ala	missense variant	-	NC_000019.10:g.5219941G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139608745	p.Pro1255Thr	missense variant	-	NC_000019.10:g.5219941G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1156383212	p.Ala1259Val	missense variant	-	NC_000019.10:g.5219457G>A	gnomAD
rs1452566818	p.Ser1260Asn	missense variant	-	NC_000019.10:g.5219454C>T	gnomAD
rs763526954	p.Pro1261Ala	missense variant	-	NC_000019.10:g.5219452G>C	ExAC,gnomAD
rs1161671874	p.Pro1261His	missense variant	-	NC_000019.10:g.5219451G>T	TOPMed,gnomAD
rs1239728663	p.Asp1264Glu	missense variant	-	NC_000019.10:g.5219441G>T	TOPMed
rs1422453480	p.Gln1267Ter	stop gained	-	NC_000019.10:g.5219434G>A	gnomAD
rs748550727	p.Asp1269Glu	missense variant	-	NC_000019.10:g.5219426A>T	ExAC,TOPMed,gnomAD
rs1221129890	p.Asp1269Gly	missense variant	-	NC_000019.10:g.5219427T>C	TOPMed
rs761904835	p.Asp1269Asn	missense variant	-	NC_000019.10:g.5219428C>T	ExAC,TOPMed,gnomAD
rs761904835	p.Asp1269His	missense variant	-	NC_000019.10:g.5219428C>G	ExAC,TOPMed,gnomAD
rs1204660130	p.Pro1271Ser	missense variant	-	NC_000019.10:g.5219422G>A	gnomAD
rs1351608223	p.Pro1271Leu	missense variant	-	NC_000019.10:g.5219421G>A	TOPMed,gnomAD
rs768318893	p.Ile1276Met	missense variant	-	NC_000019.10:g.5219405G>C	ExAC,TOPMed,gnomAD
rs146012732	p.Val1277Met	missense variant	-	NC_000019.10:g.5219404C>T	ESP,ExAC,TOPMed,gnomAD
rs146012732	p.Val1277Leu	missense variant	-	NC_000019.10:g.5219404C>A	ESP,ExAC,TOPMed,gnomAD
rs750373156	p.Glu1280Asp	missense variant	-	NC_000019.10:g.5219393C>G	ExAC,gnomAD
rs757905971	p.Glu1280Lys	missense variant	-	NC_000019.10:g.5219395C>T	ExAC,gnomAD
rs1385155560	p.Gly1288Arg	missense variant	-	NC_000019.10:g.5219371C>T	gnomAD
rs1003437214	p.Leu1291Val	missense variant	-	NC_000019.10:g.5219362G>C	gnomAD
rs763007823	p.Val1293Met	missense variant	-	NC_000019.10:g.5219356C>T	ExAC,TOPMed,gnomAD
rs773740248	p.Phe1295Cys	missense variant	-	NC_000019.10:g.5219349A>C	ExAC
rs1446928503	p.Ile1296Val	missense variant	-	NC_000019.10:g.5219347T>C	gnomAD
rs762117575	p.Cys1298Ser	missense variant	-	NC_000019.10:g.5219341A>T	ExAC,TOPMed,gnomAD
rs762117575	p.Cys1298Gly	missense variant	-	NC_000019.10:g.5219341A>C	ExAC,TOPMed,gnomAD
rs1330761136	p.Ile1299Thr	missense variant	-	NC_000019.10:g.5219337A>G	TOPMed
rs376345440	p.Ile1301Thr	missense variant	-	NC_000019.10:g.5219331A>G	TOPMed,gnomAD
rs1312373726	p.Ala1302Thr	missense variant	-	NC_000019.10:g.5219329C>T	gnomAD
rs149250405	p.Ile1303Val	missense variant	-	NC_000019.10:g.5219326T>C	ESP,ExAC,TOPMed,gnomAD
rs1246481445	p.Leu1305Phe	missense variant	-	NC_000019.10:g.5219320G>A	gnomAD
rs773998457	p.Pro1310Leu	missense variant	-	NC_000019.10:g.5218793G>A	ExAC,gnomAD
rs370343222	p.Asp1311Asn	missense variant	-	NC_000019.10:g.5218791C>T	ESP,ExAC,TOPMed,gnomAD
rs370343222	p.Asp1311Tyr	missense variant	-	NC_000019.10:g.5218791C>A	ESP,ExAC,TOPMed,gnomAD
rs370343222	p.Asp1311His	missense variant	-	NC_000019.10:g.5218791C>G	ESP,ExAC,TOPMed,gnomAD
rs780275846	p.Ser1312Asn	missense variant	-	NC_000019.10:g.5218787C>T	ExAC,gnomAD
rs747944058	p.Ser1312Gly	missense variant	-	NC_000019.10:g.5218788T>C	ExAC,gnomAD
rs767763908	p.Arg1314His	missense variant	-	NC_000019.10:g.5218527C>T	ExAC,TOPMed,gnomAD
rs374745287	p.Arg1314Cys	missense variant	-	NC_000019.10:g.5218528G>A	ESP,ExAC,TOPMed,gnomAD
rs760047878	p.Lys1315Arg	missense variant	-	NC_000019.10:g.5218524T>C	ExAC,gnomAD
rs766184946	p.Glu1318Asp	missense variant	-	NC_000019.10:g.5218514T>G	ExAC,gnomAD
rs751229657	p.Glu1318Lys	missense variant	-	NC_000019.10:g.5218516C>T	ExAC,gnomAD
rs762505033	p.Pro1319Leu	missense variant	-	NC_000019.10:g.5218512G>A	ExAC,gnomAD
rs1052009018	p.Pro1319Ser	missense variant	-	NC_000019.10:g.5218513G>A	TOPMed,gnomAD
rs762505033	p.Pro1319Arg	missense variant	-	NC_000019.10:g.5218512G>C	ExAC,gnomAD
rs772880114	p.Arg1320Cys	missense variant	-	NC_000019.10:g.5218510G>A	ExAC,gnomAD
rs145751069	p.Cys1323Tyr	missense variant	-	NC_000019.10:g.5218500C>T	ESP,ExAC,TOPMed,gnomAD
rs1239121684	p.Leu1324Val	missense variant	-	NC_000019.10:g.5218498G>C	TOPMed
rs1310899689	p.Leu1325Val	missense variant	-	NC_000019.10:g.5218495G>C	TOPMed
rs370332631	p.Asp1329Asn	missense variant	-	NC_000019.10:g.5218483C>T	ESP,ExAC,TOPMed,gnomAD
rs779055431	p.Ala1331Gly	missense variant	-	NC_000019.10:g.5218476G>C	ExAC,gnomAD
rs1361339357	p.Ala1331Thr	missense variant	-	NC_000019.10:g.5218477C>T	TOPMed,gnomAD
rs779055431	p.Ala1331Val	missense variant	-	NC_000019.10:g.5218476G>A	ExAC,gnomAD
rs367722276	p.His1333Tyr	missense variant	-	NC_000019.10:g.5218471G>A	ESP,TOPMed,gnomAD
rs771170964	p.His1334Tyr	missense variant	-	NC_000019.10:g.5218468G>A	ExAC,TOPMed,gnomAD
rs749295712	p.Pro1335Thr	missense variant	-	NC_000019.10:g.5218465G>T	ExAC,gnomAD
rs1423783416	p.Val1339Met	missense variant	-	NC_000019.10:g.5218453C>T	gnomAD
rs1366044529	p.Glu1340Ala	missense variant	-	NC_000019.10:g.5218449T>G	gnomAD
rs777724238	p.Met1341Ile	missense variant	-	NC_000019.10:g.5218445C>T	ExAC,gnomAD
rs374679831	p.Arg1342Ser	missense variant	-	NC_000019.10:g.5218442T>A	ESP,ExAC,TOPMed,gnomAD
rs753143589	p.Arg1343Cys	missense variant	-	NC_000019.10:g.5218441G>A	ExAC,TOPMed,gnomAD
rs201934952	p.Arg1343His	missense variant	-	NC_000019.10:g.5218440C>T	1000Genomes,ExAC,gnomAD
rs753143589	p.Arg1343Gly	missense variant	-	NC_000019.10:g.5218441G>C	ExAC,TOPMed,gnomAD
rs201934952	p.Arg1343Leu	missense variant	-	NC_000019.10:g.5218440C>A	1000Genomes,ExAC,gnomAD
rs1476169496	p.Ile1344Val	missense variant	-	NC_000019.10:g.5218438T>C	gnomAD
rs1266362648	p.Phe1346Leu	missense variant	-	NC_000019.10:g.5218432A>G	gnomAD
rs1403235094	p.Gly1352Asp	missense variant	-	NC_000019.10:g.5216761C>T	TOPMed,gnomAD
rs1440592448	p.Arg1354Gly	missense variant	-	NC_000019.10:g.5216756T>C	TOPMed
rs764987592	p.Ser1355Asn	missense variant	-	NC_000019.10:g.5216752C>T	ExAC,TOPMed,gnomAD
rs764987592	p.Ser1355Ile	missense variant	-	NC_000019.10:g.5216752C>A	ExAC,TOPMed,gnomAD
rs1469959251	p.Leu1357Phe	missense variant	-	NC_000019.10:g.5216747G>A	gnomAD
rs753417682	p.Pro1360Leu	missense variant	-	NC_000019.10:g.5216737G>A	ExAC,TOPMed,gnomAD
rs753417682	p.Pro1360Gln	missense variant	-	NC_000019.10:g.5216737G>T	ExAC,TOPMed,gnomAD
rs866147610	p.Gly1361Val	missense variant	-	NC_000019.10:g.5216734C>A	gnomAD
rs866147610	p.Gly1361Glu	missense variant	-	NC_000019.10:g.5216734C>T	gnomAD
rs1460411052	p.Phe1362Leu	missense variant	-	NC_000019.10:g.5216732A>G	gnomAD
rs1162516954	p.Phe1364Leu	missense variant	-	NC_000019.10:g.5216726A>G	TOPMed
rs199585880	p.Phe1364Ser	missense variant	-	NC_000019.10:g.5216725A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs955550206	p.Glu1365Asp	missense variant	-	NC_000019.10:g.5216721T>G	TOPMed
rs775461256	p.Glu1365Ala	missense variant	-	NC_000019.10:g.5216722T>G	ExAC,TOPMed,gnomAD
rs1265626893	p.Met1367Ile	missense variant	-	NC_000019.10:g.5215591C>T	gnomAD
rs1285393473	p.Leu1368Phe	missense variant	-	NC_000019.10:g.5215590G>A	TOPMed
rs1021700507	p.Ser1369Arg	missense variant	-	NC_000019.10:g.5215585G>T	gnomAD
rs909186181	p.His1370Tyr	missense variant	-	NC_000019.10:g.5215584G>A	TOPMed
rs760885887	p.Pro1371Leu	missense variant	-	NC_000019.10:g.5215580G>A	ExAC,TOPMed,gnomAD
rs772736665	p.Pro1372Leu	missense variant	-	NC_000019.10:g.5215577G>A	ExAC,gnomAD
rs1210337335	p.Ile1373Val	missense variant	-	NC_000019.10:g.5215575T>C	gnomAD
rs1358436135	p.Ile1375Val	missense variant	-	NC_000019.10:g.5215569T>C	gnomAD
rs200850387	p.Ala1376Thr	missense variant	-	NC_000019.10:g.5215566C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200850387	p.Ala1376Ser	missense variant	-	NC_000019.10:g.5215566C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1226089200	p.Asp1377Asn	missense variant	-	NC_000019.10:g.5215563C>T	gnomAD
rs1340688664	p.Met1378Thr	missense variant	-	NC_000019.10:g.5215559A>G	gnomAD
rs373247829	p.Ala1379Glu	missense variant	-	NC_000019.10:g.5215556G>T	ESP,ExAC,TOPMed,gnomAD
rs373247829	p.Ala1379Val	missense variant	-	NC_000019.10:g.5215556G>A	ESP,ExAC,TOPMed,gnomAD
rs558948003	p.Thr1382Met	missense variant	-	NC_000019.10:g.5215547G>A	1000Genomes,ExAC,gnomAD
rs755603479	p.Glu1383Lys	missense variant	-	NC_000019.10:g.5215545C>T	ExAC,gnomAD
rs1394993665	p.Arg1384Trp	missense variant	-	NC_000019.10:g.5215542G>A	gnomAD
rs114166264	p.Arg1384Gln	missense variant	-	NC_000019.10:g.5215541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140530332	p.Asn1388Lys	missense variant	-	NC_000019.10:g.5215528G>C	ESP,ExAC,TOPMed,gnomAD
rs267605547	p.Asp1389Asn	missense variant	-	NC_000019.10:g.5215527C>T	ExAC,TOPMed,gnomAD
rs1482164454	p.Leu1391Ile	missense variant	-	NC_000019.10:g.5215521G>T	TOPMed,gnomAD
rs1020485119	p.Lys1392Arg	missense variant	-	NC_000019.10:g.5215517T>C	TOPMed,gnomAD
rs369098162	p.Leu1393Phe	missense variant	-	NC_000019.10:g.5215515G>A	ESP,ExAC,TOPMed,gnomAD
rs374920205	p.Asp1401Asn	missense variant	-	NC_000019.10:g.5215406C>T	ESP,ExAC,TOPMed,gnomAD
rs1455732532	p.Pro1402Thr	missense variant	-	NC_000019.10:g.5215403G>T	TOPMed,gnomAD
rs1455732532	p.Pro1402Ser	missense variant	-	NC_000019.10:g.5215403G>A	TOPMed,gnomAD
rs1379803911	p.His1410Leu	missense variant	-	NC_000019.10:g.5215378T>A	gnomAD
rs1379803911	p.His1410Arg	missense variant	-	NC_000019.10:g.5215378T>C	gnomAD
rs201183797	p.Asn1412Thr	missense variant	-	NC_000019.10:g.5215372T>G	1000Genomes,ExAC,gnomAD
rs1364755919	p.Asn1412Lys	missense variant	-	NC_000019.10:g.5215371G>T	gnomAD
rs201183797	p.Asn1412Ser	missense variant	-	NC_000019.10:g.5215372T>C	1000Genomes,ExAC,gnomAD
rs773573468	p.Asn1416Lys	missense variant	-	NC_000019.10:g.5215359G>T	ExAC,gnomAD
rs530579519	p.Pro1418Leu	missense variant	-	NC_000019.10:g.5215354G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1399239013	p.Pro1418Ala	missense variant	-	NC_000019.10:g.5215355G>C	gnomAD
rs1440179947	p.Arg1421Cys	missense variant	-	NC_000019.10:g.5215346G>A	TOPMed,gnomAD
rs1420232605	p.Arg1421His	missense variant	-	NC_000019.10:g.5215345C>T	gnomAD
rs768182732	p.Val1425Ile	missense variant	-	NC_000019.10:g.5215334C>T	ExAC,gnomAD
rs768182732	p.Val1425Leu	missense variant	-	NC_000019.10:g.5215334C>G	ExAC,gnomAD
rs976014452	p.Ile1426Leu	missense variant	-	NC_000019.10:g.5215331T>G	TOPMed
rs114545401	p.Ala1427Ser	missense variant	-	NC_000019.10:g.5215328C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1283955648	p.Ala1427Val	missense variant	-	NC_000019.10:g.5215327G>A	TOPMed,gnomAD
rs114545401	p.Ala1427Thr	missense variant	-	NC_000019.10:g.5215328C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217838563	p.Asp1429Tyr	missense variant	-	NC_000019.10:g.5215322C>A	gnomAD
rs1356400067	p.His1430Tyr	missense variant	-	NC_000019.10:g.5215319G>A	gnomAD
rs778834304	p.His1430Gln	missense variant	-	NC_000019.10:g.5215317G>C	ExAC,TOPMed,gnomAD
rs1379973129	p.Arg1432His	missense variant	-	NC_000019.10:g.5215312C>T	gnomAD
rs190342971	p.Pro1437Leu	missense variant	-	NC_000019.10:g.5215297G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766847307	p.Ile1438Thr	missense variant	-	NC_000019.10:g.5215294A>G	ExAC,TOPMed,gnomAD
rs751626412	p.Ile1438Leu	missense variant	-	NC_000019.10:g.5215295T>G	ExAC,TOPMed,gnomAD
rs528875239	p.Ile1441Phe	missense variant	-	NC_000019.10:g.5214734T>A	1000Genomes,gnomAD
rs528875239	p.Ile1441Leu	missense variant	-	NC_000019.10:g.5214734T>G	1000Genomes,gnomAD
rs747192109	p.Met1442Val	missense variant	-	NC_000019.10:g.5214731T>C	ExAC,TOPMed,gnomAD
rs747192109	p.Met1442Leu	missense variant	-	NC_000019.10:g.5214731T>A	ExAC,TOPMed,gnomAD
rs974923793	p.Met1442Thr	missense variant	-	NC_000019.10:g.5214730A>G	TOPMed,gnomAD
rs780295096	p.Gly1443Ser	missense variant	-	NC_000019.10:g.5214728C>T	ExAC,gnomAD
rs1328615941	p.Ser1444Thr	missense variant	-	NC_000019.10:g.5214724C>G	TOPMed
rs1270305003	p.Asp1445Gly	missense variant	-	NC_000019.10:g.5214721T>C	TOPMed
rs1426779255	p.Asn1448His	missense variant	-	NC_000019.10:g.5214713T>G	gnomAD
rs192807174	p.Val1452Met	missense variant	-	NC_000019.10:g.5214701C>T	1000Genomes,ExAC,gnomAD
rs1031952638	p.Asp1453Asn	missense variant	-	NC_000019.10:g.5214698C>T	TOPMed
rs1457749790	p.Gly1454Ser	missense variant	-	NC_000019.10:g.5214695C>T	TOPMed,gnomAD
rs1457749790	p.Gly1454Cys	missense variant	-	NC_000019.10:g.5214695C>A	TOPMed,gnomAD
rs1238817348	p.Tyr1455Cys	missense variant	-	NC_000019.10:g.5214691T>C	gnomAD
rs373940938	p.Arg1456Trp	missense variant	-	NC_000019.10:g.5214689G>A	ESP,ExAC,TOPMed,gnomAD
rs752266796	p.Arg1456Gln	missense variant	-	NC_000019.10:g.5214688C>T	ExAC,gnomAD
rs369756620	p.Cys1457Tyr	missense variant	-	NC_000019.10:g.5214685C>T	ESP,ExAC,TOPMed,gnomAD
rs4807697	p.Cys1457Arg	missense variant	-	NC_000019.10:g.5214686A>G	UniProt,dbSNP
VAR_047277	p.Cys1457Arg	missense variant	-	NC_000019.10:g.5214686A>G	UniProt
rs4807697	p.Cys1457Arg	missense variant	-	NC_000019.10:g.5214686A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1221980061	p.Asn1459Ser	missense variant	-	NC_000019.10:g.5214679T>C	gnomAD
rs762790087	p.Ala1460Val	missense variant	-	NC_000019.10:g.5214676G>A	ExAC,TOPMed,gnomAD
rs189135288	p.Ala1460Thr	missense variant	-	NC_000019.10:g.5214677C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1301896231	p.Tyr1461Ter	stop gained	-	NC_000019.10:g.5214672G>T	gnomAD
rs930416291	p.Ile1462Val	missense variant	-	NC_000019.10:g.5214671T>C	TOPMed
rs1466270055	p.Ala1463Ser	missense variant	-	NC_000019.10:g.5214668C>A	gnomAD
rs1274728310	p.Thr1464Met	missense variant	-	NC_000019.10:g.5214664G>A	TOPMed,gnomAD
rs775641545	p.Gly1466Ala	missense variant	-	NC_000019.10:g.5214658C>G	ExAC,gnomAD
rs116660613	p.Pro1467Leu	missense variant	-	NC_000019.10:g.5214655G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1255636453	p.Pro1469Leu	missense variant	-	NC_000019.10:g.5214649G>A	gnomAD
rs532712500	p.Arg1477His	missense variant	-	NC_000019.10:g.5214625C>T	gnomAD
rs757423838	p.Arg1477Cys	missense variant	-	NC_000019.10:g.5214626G>A	ExAC,gnomAD
rs749723623	p.Val1479Met	missense variant	-	NC_000019.10:g.5214620C>T	ExAC,gnomAD
rs778389901	p.Trp1480Ter	stop gained	-	NC_000019.10:g.5214616C>T	ExAC,TOPMed,gnomAD
rs376549612	p.Arg1483Trp	missense variant	-	NC_000019.10:g.5214608G>A	ESP,ExAC,TOPMed,gnomAD
rs767215087	p.Arg1483Gln	missense variant	-	NC_000019.10:g.5214607C>T	ExAC,TOPMed,gnomAD
rs754694289	p.Ser1484Leu	missense variant	-	NC_000019.10:g.5214604G>A	ExAC,TOPMed,gnomAD
rs765806159	p.Ala1485Thr	missense variant	-	NC_000019.10:g.5214602C>T	ExAC,TOPMed,gnomAD
rs139132124	p.Ala1485Val	missense variant	-	NC_000019.10:g.5214601G>A	ESP,ExAC,TOPMed,gnomAD
rs1326918817	p.Ile1487Val	missense variant	-	NC_000019.10:g.5214596T>C	gnomAD
rs116515629	p.Val1488Ile	missense variant	-	NC_000019.10:g.5214593C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776422333	p.Met1489Thr	missense variant	-	NC_000019.10:g.5214589A>G	ExAC,gnomAD
rs768496731	p.Thr1491Met	missense variant	-	NC_000019.10:g.5214583G>A	ExAC,TOPMed,gnomAD
rs369295620	p.Arg1492Trp	missense variant	-	NC_000019.10:g.5214581G>A	ESP,ExAC,TOPMed,gnomAD
rs770889503	p.Arg1492Gln	missense variant	-	NC_000019.10:g.5214580C>T	ExAC,TOPMed,gnomAD
rs770889503	p.Arg1492Leu	missense variant	-	NC_000019.10:g.5214580C>A	ExAC,TOPMed,gnomAD
rs1285057720	p.Leu1493Arg	missense variant	-	NC_000019.10:g.5214577A>C	TOPMed
rs1218678810	p.Glu1495Lys	missense variant	-	NC_000019.10:g.5214572C>T	gnomAD
rs1264309988	p.Ser1497Leu	missense variant	-	NC_000019.10:g.5214565G>A	TOPMed,gnomAD
rs748467965	p.Arg1498Leu	missense variant	-	NC_000019.10:g.5214562C>A	ExAC,TOPMed,gnomAD
rs1205787412	p.Arg1498Trp	missense variant	-	NC_000019.10:g.5214563G>A	TOPMed
rs748467965	p.Arg1498Gln	missense variant	-	NC_000019.10:g.5214562C>T	ExAC,TOPMed,gnomAD
rs769120046	p.Ile1499Ser	missense variant	-	NC_000019.10:g.5214479A>C	ExAC,TOPMed,gnomAD
rs61729768	p.Lys1500Asn	missense variant	-	NC_000019.10:g.5214475C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368562196	p.Gln1503Glu	missense variant	-	NC_000019.10:g.5214468G>C	ESP,ExAC,TOPMed,gnomAD
rs928845139	p.Asn1507Ser	missense variant	-	NC_000019.10:g.5214455T>C	gnomAD
rs778479954	p.Gly1509Ser	missense variant	-	NC_000019.10:g.5214450C>T	ExAC,gnomAD
rs147152459	p.Thr1510Met	missense variant	-	NC_000019.10:g.5214446G>A	ESP,ExAC,TOPMed,gnomAD
rs1197491728	p.Thr1512Ala	missense variant	-	NC_000019.10:g.5214441T>C	gnomAD
rs760418863	p.Tyr1513Phe	missense variant	-	NC_000019.10:g.5214437T>A	ExAC,TOPMed,gnomAD
rs760418863	p.Tyr1513Cys	missense variant	-	NC_000019.10:g.5214437T>C	ExAC,TOPMed,gnomAD
rs116099658	p.Gly1514Arg	missense variant	-	NC_000019.10:g.5214435C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs116099658	p.Gly1514Ser	missense variant	-	NC_000019.10:g.5214435C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540902322	p.Ile1516Val	missense variant	-	NC_000019.10:g.5214429T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1375370905	p.Gln1517Arg	missense variant	-	NC_000019.10:g.5214425T>C	gnomAD
rs1236009082	p.Gln1517Ter	stop gained	-	NC_000019.10:g.5214426G>A	gnomAD
rs1308542151	p.Val1518Ala	missense variant	-	NC_000019.10:g.5214422A>G	gnomAD
rs773377919	p.Thr1519Met	missense variant	-	NC_000019.10:g.5214419G>A	ExAC,TOPMed,gnomAD
rs1166726276	p.Asp1522Gly	missense variant	-	NC_000019.10:g.5214410T>C	TOPMed,gnomAD
rs769320080	p.Glu1525Lys	missense variant	-	NC_000019.10:g.5214402C>T	ExAC,gnomAD
rs772384138	p.Val1531Ile	missense variant	-	NC_000019.10:g.5214384C>T	ExAC,TOPMed,gnomAD
rs772384138	p.Val1531Phe	missense variant	-	NC_000019.10:g.5214384C>A	ExAC,TOPMed,gnomAD
rs1177403750	p.Thr1533Ser	missense variant	-	NC_000019.10:g.5214378T>A	gnomAD
rs527477754	p.Phe1534Ser	missense variant	-	NC_000019.10:g.5214374A>G	1000Genomes,ExAC,gnomAD
rs143481159	p.Phe1534Leu	missense variant	-	NC_000019.10:g.5214375A>G	ESP,ExAC,TOPMed,gnomAD
rs533685228	p.Phe1534Leu	missense variant	-	NC_000019.10:g.5214373G>C	ExAC,TOPMed,gnomAD
rs533685228	p.Phe1534Leu	missense variant	-	NC_000019.10:g.5214373G>T	ExAC,TOPMed,gnomAD
rs977538185	p.Ser1535Phe	missense variant	-	NC_000019.10:g.5214371G>A	TOPMed,gnomAD
rs754773533	p.His1537Asp	missense variant	-	NC_000019.10:g.5214366G>C	ExAC,gnomAD
rs1483140281	p.His1537Arg	missense variant	-	NC_000019.10:g.5214365T>C	gnomAD
rs747517599	p.His1537Gln	missense variant	-	NC_000019.10:g.5214364G>C	gnomAD
rs750640223	p.Lys1538Glu	missense variant	-	NC_000019.10:g.5214363T>C	ExAC,gnomAD
rs757568361	p.Arg1545Ser	missense variant	-	NC_000019.10:g.5212473G>T	ExAC,TOPMed,gnomAD
rs757568361	p.Arg1545Cys	missense variant	-	NC_000019.10:g.5212473G>A	ExAC,TOPMed,gnomAD
rs754177433	p.Arg1545His	missense variant	-	NC_000019.10:g.5212472C>T	ExAC,TOPMed,gnomAD
rs776015928	p.Glu1546Lys	missense variant	-	NC_000019.10:g.5212470C>T	ExAC,TOPMed,gnomAD
rs753499659	p.Arg1548His	missense variant	-	NC_000019.10:g.5212463C>T	ExAC,gnomAD
rs369058883	p.Arg1548Cys	missense variant	-	NC_000019.10:g.5212464G>A	ESP,ExAC,TOPMed,gnomAD
rs771340725	p.Gln1549Lys	missense variant	-	NC_000019.10:g.5212461G>T	ExAC,gnomAD
rs182037655	p.Thr1553Met	missense variant	-	NC_000019.10:g.5212448G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1191088838	p.Ala1554Val	missense variant	-	NC_000019.10:g.5212445G>A	TOPMed,gnomAD
rs1248490430	p.Trp1555Cys	missense variant	-	NC_000019.10:g.5212441C>A	gnomAD
rs1196839847	p.Pro1556Leu	missense variant	-	NC_000019.10:g.5212439G>A	gnomAD
rs1258938541	p.Asp1557Tyr	missense variant	-	NC_000019.10:g.5212437C>A	gnomAD
rs150241840	p.Val1560Leu	missense variant	-	NC_000019.10:g.5212428C>G	ESP,ExAC,TOPMed,gnomAD
rs150241840	p.Val1560Met	missense variant	-	NC_000019.10:g.5212428C>T	ESP,ExAC,TOPMed,gnomAD
rs1368253825	p.Pro1561Thr	missense variant	-	NC_000019.10:g.5212425G>T	gnomAD
rs778163463	p.Glu1562Lys	missense variant	-	NC_000019.10:g.5212422C>T	ExAC,TOPMed,gnomAD
rs1375587926	p.Glu1562Ala	missense variant	-	NC_000019.10:g.5212421T>G	gnomAD
rs768007031	p.Thr1565Met	missense variant	-	NC_000019.10:g.5212412G>A	ExAC,gnomAD
rs752720358	p.Thr1565Ala	missense variant	-	NC_000019.10:g.5212413T>C	ExAC,gnomAD
rs1415481564	p.Pro1566Ser	missense variant	-	NC_000019.10:g.5212410G>A	TOPMed,gnomAD
rs1397448438	p.Ala1569Asp	missense variant	-	NC_000019.10:g.5212400G>T	gnomAD
rs558410776	p.Arg1572Gly	missense variant	-	NC_000019.10:g.5212392G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs558410776	p.Arg1572Trp	missense variant	-	NC_000019.10:g.5212392G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769362751	p.Arg1572Gln	missense variant	-	NC_000019.10:g.5212391C>T	ExAC,gnomAD
rs1482411453	p.Arg1573Gly	missense variant	-	NC_000019.10:g.5212389T>C	gnomAD
rs544938921	p.Cys1577Arg	missense variant	-	NC_000019.10:g.5212377A>G	1000Genomes,ExAC,gnomAD
rs1286819853	p.Cys1577Ter	stop gained	-	NC_000019.10:g.5212375G>T	gnomAD
rs1209168744	p.Asn1578Ser	missense variant	-	NC_000019.10:g.5212373T>C	gnomAD
rs372226485	p.Pro1579Leu	missense variant	-	NC_000019.10:g.5212370G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372226485	p.Pro1579Arg	missense variant	-	NC_000019.10:g.5212370G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1237948621	p.Pro1580Ser	missense variant	-	NC_000019.10:g.5212368G>A	gnomAD
rs1352291696	p.Asp1581Glu	missense variant	-	NC_000019.10:g.5212363A>C	gnomAD
rs1309412012	p.Ala1582Thr	missense variant	-	NC_000019.10:g.5212362C>T	gnomAD
rs771943247	p.Ala1582Val	missense variant	-	NC_000019.10:g.5212361G>A	ExAC,gnomAD
rs777981018	p.Gly1583Ser	missense variant	-	NC_000019.10:g.5212359C>T	ExAC,TOPMed,gnomAD
rs1449197300	p.Pro1584Ser	missense variant	-	NC_000019.10:g.5212356G>A	gnomAD
rs915320010	p.Ile1585Val	missense variant	-	NC_000019.10:g.5212353T>C	TOPMed
rs140472977	p.Val1586Met	missense variant	-	NC_000019.10:g.5212350C>T	ESP,ExAC,TOPMed,gnomAD
rs1380942206	p.Val1587Leu	missense variant	-	NC_000019.10:g.5212347C>G	gnomAD
rs571743236	p.Gly1592Ser	missense variant	-	NC_000019.10:g.5212246C>T	ExAC,TOPMed,gnomAD
rs1385628370	p.Arg1595His	missense variant	-	NC_000019.10:g.5212236C>T	TOPMed,gnomAD
rs776677741	p.Arg1595Cys	missense variant	-	NC_000019.10:g.5212237G>A	ExAC,gnomAD
rs1355060495	p.Phe1599Tyr	missense variant	-	NC_000019.10:g.5212224A>T	TOPMed
rs367918810	p.Val1601Ile	missense variant	-	NC_000019.10:g.5212219C>T	ESP,ExAC,TOPMed,gnomAD
rs151279682	p.Asp1603Asn	missense variant	-	NC_000019.10:g.5212213C>T	ESP,ExAC,TOPMed,gnomAD
rs377564137	p.Ala1604Ser	missense variant	-	NC_000019.10:g.5212210C>A	ESP,ExAC,TOPMed,gnomAD
rs377564137	p.Ala1604Thr	missense variant	-	NC_000019.10:g.5212210C>T	ESP,ExAC,TOPMed,gnomAD
rs1431393078	p.Glu1607Val	missense variant	-	NC_000019.10:g.5212200T>A	gnomAD
rs142364974	p.Arg1608Trp	missense variant	-	NC_000019.10:g.5212198G>A	ESP,ExAC,TOPMed,gnomAD
rs148739536	p.Arg1608Gln	missense variant	-	NC_000019.10:g.5212197C>T	ESP,ExAC,TOPMed,gnomAD
rs1255744139	p.Pro1611Ser	missense variant	-	NC_000019.10:g.5212189G>A	gnomAD
rs144570007	p.Val1617Phe	missense variant	-	NC_000019.10:g.5212171C>A	ESP,ExAC,TOPMed,gnomAD
rs144570007	p.Val1617Ile	missense variant	-	NC_000019.10:g.5212171C>T	ESP,ExAC,TOPMed,gnomAD
rs1393306881	p.Tyr1618Cys	missense variant	-	NC_000019.10:g.5212167T>C	TOPMed
rs1242977508	p.Val1621Leu	missense variant	-	NC_000019.10:g.5212159C>A	TOPMed
rs1242977508	p.Val1621Met	missense variant	-	NC_000019.10:g.5212159C>T	TOPMed
rs775731386	p.Thr1622Met	missense variant	-	NC_000019.10:g.5212155G>A	ExAC,TOPMed,gnomAD
rs745988489	p.Leu1623Phe	missense variant	-	NC_000019.10:g.5212153G>A	ExAC,gnomAD
rs1169461157	p.Met1624Val	missense variant	-	NC_000019.10:g.5212150T>C	gnomAD
rs1057017143	p.Arg1628His	missense variant	-	NC_000019.10:g.5212137C>T	gnomAD
rs1377011238	p.Arg1628Cys	missense variant	-	NC_000019.10:g.5212138G>A	TOPMed,gnomAD
rs771478606	p.Asn1629Ser	missense variant	-	NC_000019.10:g.5212134T>C	ExAC,gnomAD
rs1455190303	p.Met1631Val	missense variant	-	NC_000019.10:g.5212129T>C	gnomAD
rs1177597179	p.Met1631Ile	missense variant	-	NC_000019.10:g.5212127C>A	gnomAD
rs1235868511	p.Met1631Thr	missense variant	-	NC_000019.10:g.5212128A>G	gnomAD
rs1337710974	p.Gln1633His	missense variant	-	NC_000019.10:g.5212121C>G	TOPMed
rs529643294	p.Thr1634Met	missense variant	-	NC_000019.10:g.5212119G>A	TOPMed,gnomAD
rs140615054	p.Asp1636Asn	missense variant	-	NC_000019.10:g.5212114C>T	ESP,TOPMed
rs1344826234	p.Gln1637His	missense variant	-	NC_000019.10:g.5212109C>G	gnomAD
rs1237201712	p.Ser1639Arg	missense variant	-	NC_000019.10:g.5212105T>G	gnomAD
rs752374333	p.Ile1641Thr	missense variant	-	NC_000019.10:g.5212098A>G	ExAC,gnomAD
rs781016820	p.His1642Tyr	missense variant	-	NC_000019.10:g.5212096G>A	ExAC,gnomAD
rs751085808	p.Glu1643Lys	missense variant	-	NC_000019.10:g.5212093C>T	ExAC,TOPMed,gnomAD
rs1330569020	p.Ala1644Gly	missense variant	-	NC_000019.10:g.5212089G>C	gnomAD
rs766170514	p.Leu1645Val	missense variant	-	NC_000019.10:g.5212087G>C	ExAC,TOPMed,gnomAD
rs139009302	p.Val1649Met	missense variant	-	NC_000019.10:g.5212075C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1054283170	p.Cys1651Ser	missense variant	-	NC_000019.10:g.5212069A>T	TOPMed
rs1377889959	p.Gly1652Asp	missense variant	-	NC_000019.10:g.5212065C>T	gnomAD
rs1401543136	p.Gly1652Ser	missense variant	-	NC_000019.10:g.5212066C>T	TOPMed
rs772283107	p.Asn1653Ser	missense variant	-	NC_000019.10:g.5212062T>C	ExAC,gnomAD
rs1234245419	p.Thr1654Pro	missense variant	-	NC_000019.10:g.5212060T>G	TOPMed,gnomAD
rs1335402011	p.Glu1655Asp	missense variant	-	NC_000019.10:g.5212055T>A	TOPMed
rs759473614	p.Pro1657Ser	missense variant	-	NC_000019.10:g.5212051G>A	ExAC,gnomAD
rs1442178151	p.Pro1657His	missense variant	-	NC_000019.10:g.5212050G>T	gnomAD
rs770983463	p.Ala1658Thr	missense variant	-	NC_000019.10:g.5212048C>T	ExAC,TOPMed,gnomAD
rs749770933	p.Arg1659His	missense variant	-	NC_000019.10:g.5212044C>T	ExAC,gnomAD
rs1314953096	p.Arg1659Cys	missense variant	-	NC_000019.10:g.5212045G>A	TOPMed
rs1224418622	p.Ser1660Asn	missense variant	-	NC_000019.10:g.5212041C>T	gnomAD
rs778472176	p.Tyr1662His	missense variant	-	NC_000019.10:g.5212036A>G	ExAC,TOPMed,gnomAD
rs575673773	p.Ala1663Gly	missense variant	-	NC_000019.10:g.5212032G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1313280271	p.Ile1665Val	missense variant	-	NC_000019.10:g.5212027T>C	gnomAD
rs754672517	p.Leu1668Val	missense variant	-	NC_000019.10:g.5212018G>C	ExAC,TOPMed,gnomAD
rs751233189	p.Ala1669Pro	missense variant	-	NC_000019.10:g.5212015C>G	ExAC,gnomAD
rs779614562	p.Glu1672Asp	missense variant	-	NC_000019.10:g.5212004C>A	ExAC,TOPMed,gnomAD
rs1219552696	p.Pro1673Thr	missense variant	-	NC_000019.10:g.5212003G>T	gnomAD
rs750341467	p.Pro1673Leu	missense variant	-	NC_000019.10:g.5212002G>A	ExAC,gnomAD
rs750341467	p.Pro1673Arg	missense variant	-	NC_000019.10:g.5212002G>C	ExAC,gnomAD
rs61729772	p.Gly1674Cys	missense variant	-	NC_000019.10:g.5212000C>A	gnomAD
rs1418979460	p.Gly1674Asp	missense variant	-	NC_000019.10:g.5211999C>T	TOPMed,gnomAD
rs753640223	p.Glu1675Lys	missense variant	-	NC_000019.10:g.5211997C>T	ExAC,TOPMed,gnomAD
rs763848171	p.Glu1675Asp	missense variant	-	NC_000019.10:g.5211995T>G	ExAC
rs150713717	p.His1676Gln	missense variant	-	NC_000019.10:g.5211992G>T	ESP,ExAC,TOPMed,gnomAD
rs549449179	p.Val1677Leu	missense variant	-	NC_000019.10:g.5211991C>G	ExAC,TOPMed,gnomAD
rs549449179	p.Val1677Ile	missense variant	-	NC_000019.10:g.5211991C>T	ExAC,TOPMed,gnomAD
rs1287877012	p.Gly1679Ser	missense variant	-	NC_000019.10:g.5211985C>T	gnomAD
rs773816993	p.Met1680Ile	missense variant	-	NC_000019.10:g.5211980C>T	ExAC,gnomAD
rs770430764	p.Glu1681Asp	missense variant	-	NC_000019.10:g.5211977T>A	ExAC,gnomAD
rs1234917505	p.Leu1682Arg	missense variant	-	NC_000019.10:g.5211975A>C	gnomAD
rs1293606763	p.Leu1682Phe	missense variant	-	NC_000019.10:g.5211976G>A	gnomAD
rs1269493731	p.Glu1683Lys	missense variant	-	NC_000019.10:g.5211973C>T	TOPMed,gnomAD
rs370553812	p.Arg1686Leu	missense variant	-	NC_000019.10:g.5211767C>A	ESP,ExAC,TOPMed,gnomAD
rs544687640	p.Arg1686Trp	missense variant	-	NC_000019.10:g.5211768G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs370553812	p.Arg1686Gln	missense variant	-	NC_000019.10:g.5211767C>T	ESP,ExAC,TOPMed,gnomAD
rs764543329	p.Ala1688Gly	missense variant	-	NC_000019.10:g.5211761G>C	ExAC,gnomAD
rs777149337	p.Ala1688Thr	missense variant	-	NC_000019.10:g.5211762C>T	ExAC,gnomAD
rs575809662	p.Lys1691Glu	missense variant	-	NC_000019.10:g.5211753T>C	1000Genomes,gnomAD
rs761038687	p.His1693Asn	missense variant	-	NC_000019.10:g.5211747G>T	ExAC,gnomAD
rs375049270	p.Thr1694Met	missense variant	-	NC_000019.10:g.5211743G>A	ExAC,TOPMed,gnomAD
rs377152398	p.Arg1696Leu	missense variant	-	NC_000019.10:g.5211737C>A	ESP,ExAC,TOPMed,gnomAD
rs759153530	p.Arg1696Cys	missense variant	-	NC_000019.10:g.5211738G>A	ExAC,TOPMed,gnomAD
rs377152398	p.Arg1696His	missense variant	-	NC_000019.10:g.5211737C>T	ESP,ExAC,TOPMed,gnomAD
rs748826407	p.Ile1698Val	missense variant	-	NC_000019.10:g.5211732T>C	ExAC
rs777698094	p.Ile1698Thr	missense variant	-	NC_000019.10:g.5211731A>G	ExAC,gnomAD
rs1408970246	p.Ala1700Thr	missense variant	-	NC_000019.10:g.5211726C>T	gnomAD
rs148218543	p.Asn1701Ser	missense variant	-	NC_000019.10:g.5211722T>C	ESP,ExAC,TOPMed,gnomAD
rs148218543	p.Asn1701Ile	missense variant	-	NC_000019.10:g.5211722T>A	ESP,ExAC,TOPMed,gnomAD
rs750656757	p.Phe1707Leu	missense variant	-	NC_000019.10:g.5211703G>T	ExAC,gnomAD
rs1312546718	p.Phe1707Ser	missense variant	-	NC_000019.10:g.5211704A>G	TOPMed,gnomAD
rs757375502	p.Arg1710His	missense variant	-	NC_000019.10:g.5211695C>T	ExAC,TOPMed,gnomAD
rs145108936	p.Arg1710Cys	missense variant	-	NC_000019.10:g.5211696G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757375502	p.Arg1710Leu	missense variant	-	NC_000019.10:g.5211695C>A	ExAC,TOPMed,gnomAD
rs764289589	p.Val1712Met	missense variant	-	NC_000019.10:g.5211690C>T	ExAC,gnomAD
rs1317765172	p.Ile1714Phe	missense variant	-	NC_000019.10:g.5211684T>A	TOPMed
rs753283232	p.Met1715Val	missense variant	-	NC_000019.10:g.5211681T>C	ExAC,gnomAD
rs1260485320	p.Tyr1717Cys	missense variant	-	NC_000019.10:g.5211674T>C	TOPMed
rs1377369040	p.Thr1720Ala	missense variant	-	NC_000019.10:g.5211666T>C	gnomAD
rs759915847	p.Arg1721Gln	missense variant	-	NC_000019.10:g.5211662C>T	ExAC,TOPMed,gnomAD
rs1351895585	p.Arg1721Trp	missense variant	-	NC_000019.10:g.5211663G>A	TOPMed,gnomAD
rs1415864299	p.Val1722Ala	missense variant	-	NC_000019.10:g.5211659A>G	gnomAD
rs773951274	p.Cys1723Phe	missense variant	-	NC_000019.10:g.5211656C>A	ExAC,gnomAD
rs770574044	p.Pro1726Arg	missense variant	-	NC_000019.10:g.5211647G>C	ExAC,gnomAD
rs770574044	p.Pro1726Leu	missense variant	-	NC_000019.10:g.5211647G>A	ExAC,gnomAD
rs1161522719	p.Ile1727Thr	missense variant	-	NC_000019.10:g.5211644A>G	gnomAD
rs199786391	p.Arg1728Trp	missense variant	-	NC_000019.10:g.5211642G>A	TOPMed,gnomAD
rs369364998	p.Arg1728Gln	missense variant	-	NC_000019.10:g.5211641C>T	ESP,ExAC,TOPMed,gnomAD
rs748005458	p.Gly1732Ser	missense variant	-	NC_000019.10:g.5211630C>T	ExAC,TOPMed,gnomAD
rs781331763	p.Gly1732Ala	missense variant	-	NC_000019.10:g.5211629C>G	ExAC,gnomAD
rs768527095	p.Ser1733Cys	missense variant	-	NC_000019.10:g.5211626G>C	ExAC,gnomAD
rs768527095	p.Ser1733Phe	missense variant	-	NC_000019.10:g.5211626G>A	ExAC,gnomAD
rs746834613	p.Ile1736Leu	missense variant	-	NC_000019.10:g.5211618T>G	ExAC,gnomAD
rs1234272445	p.Ala1738Thr	missense variant	-	NC_000019.10:g.5211612C>T	gnomAD
rs757537399	p.Ile1741Thr	missense variant	-	NC_000019.10:g.5211602A>G	ExAC,gnomAD
rs1473708944	p.Arg1745Thr	missense variant	-	NC_000019.10:g.5211590C>G	gnomAD
rs1329808872	p.Ala1749Ser	missense variant	-	NC_000019.10:g.5210795C>A	TOPMed
rs541912681	p.Ile1751Val	missense variant	-	NC_000019.10:g.5210789T>C	gnomAD
rs145869121	p.Ala1752Thr	missense variant	-	NC_000019.10:g.5210786C>T	ESP,ExAC,TOPMed,gnomAD
rs145869121	p.Ala1752Ser	missense variant	-	NC_000019.10:g.5210786C>A	ESP,ExAC,TOPMed,gnomAD
rs758652323	p.Ala1752Val	missense variant	-	NC_000019.10:g.5210785G>A	ExAC,TOPMed,gnomAD
rs764743065	p.Thr1753Lys	missense variant	-	NC_000019.10:g.5210782G>T	ExAC
rs1049873225	p.Gln1754Pro	missense variant	-	NC_000019.10:g.5210779T>G	TOPMed
rs762745270	p.Pro1756Gln	missense variant	-	NC_000019.10:g.5210773G>T	ExAC,TOPMed,gnomAD
rs1205450779	p.Pro1756Ser	missense variant	-	NC_000019.10:g.5210774G>A	TOPMed
rs762745270	p.Pro1756Leu	missense variant	-	NC_000019.10:g.5210773G>A	ExAC,TOPMed,gnomAD
rs374377699	p.Ala1758Val	missense variant	-	NC_000019.10:g.5210767G>A	ESP,ExAC,TOPMed,gnomAD
rs759194375	p.Glu1759Asp	missense variant	-	NC_000019.10:g.5210763C>G	ExAC
rs767493286	p.Glu1759Lys	missense variant	-	NC_000019.10:g.5210765C>T	ExAC,gnomAD
rs1176246574	p.Thr1760Ala	missense variant	-	NC_000019.10:g.5210762T>C	TOPMed
rs774182734	p.Thr1761Ala	missense variant	-	NC_000019.10:g.5210759T>C	ExAC,gnomAD
rs770699501	p.Thr1761Met	missense variant	-	NC_000019.10:g.5210758G>A	ExAC,TOPMed,gnomAD
rs768674983	p.Arg1766Leu	missense variant	-	NC_000019.10:g.5210743C>A	ExAC,TOPMed,gnomAD
rs768674983	p.Arg1766His	missense variant	-	NC_000019.10:g.5210743C>T	ExAC,TOPMed,gnomAD
rs1157608522	p.Arg1766Cys	missense variant	-	NC_000019.10:g.5210744G>A	TOPMed,gnomAD
rs780361257	p.Met1767Ile	missense variant	-	NC_000019.10:g.5210739C>G	ExAC,gnomAD
rs747125571	p.Met1767Val	missense variant	-	NC_000019.10:g.5210741T>C	ExAC,gnomAD
rs747125571	p.Met1767Leu	missense variant	-	NC_000019.10:g.5210741T>G	ExAC,gnomAD
rs746423364	p.Leu1768Val	missense variant	-	NC_000019.10:g.5210738G>C	ExAC,gnomAD
rs1258823766	p.Asn1771Asp	missense variant	-	NC_000019.10:g.5210729T>C	gnomAD
rs779302415	p.Ser1773Leu	missense variant	-	NC_000019.10:g.5210722G>A	ExAC,TOPMed,gnomAD
rs753489907	p.Thr1774Lys	missense variant	-	NC_000019.10:g.5210719G>T	ExAC,TOPMed,gnomAD
rs753489907	p.Thr1774Met	missense variant	-	NC_000019.10:g.5210719G>A	ExAC,TOPMed,gnomAD
rs116345982	p.Val1776Met	missense variant	-	NC_000019.10:g.5210714C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1231208863	p.Val1777Leu	missense variant	-	NC_000019.10:g.5210711C>A	gnomAD
rs751492887	p.Lys1781Glu	missense variant	-	NC_000019.10:g.5210699T>C	ExAC,gnomAD
rs766174955	p.Arg1783Trp	missense variant	-	NC_000019.10:g.5210693G>A	ExAC,TOPMed,gnomAD
rs762760744	p.Arg1783Gln	missense variant	-	NC_000019.10:g.5210692C>T	ExAC,TOPMed,gnomAD
rs1212842588	p.Glu1784Gly	missense variant	-	NC_000019.10:g.5210689T>C	TOPMed
rs776795641	p.Gly1786Asp	missense variant	-	NC_000019.10:g.5210683C>T	ExAC,TOPMed,gnomAD
rs776795641	p.Gly1786Val	missense variant	-	NC_000019.10:g.5210683C>A	ExAC,TOPMed,gnomAD
rs1169061301	p.Cys1790Ser	missense variant	-	NC_000019.10:g.5210587C>G	TOPMed,gnomAD
rs1476413127	p.His1791Leu	missense variant	-	NC_000019.10:g.5210584T>A	gnomAD
rs151050830	p.His1791Gln	missense variant	-	NC_000019.10:g.5210583G>T	ESP,ExAC,gnomAD
rs775620030	p.Tyr1793Phe	missense variant	-	NC_000019.10:g.5210578T>A	ExAC,gnomAD
rs1253335014	p.Pro1795Leu	missense variant	-	NC_000019.10:g.5210572G>A	gnomAD
rs1420539666	p.Glu1797Lys	missense variant	-	NC_000019.10:g.5210567C>T	TOPMed
rs771577284	p.Arg1798His	missense variant	-	NC_000019.10:g.5210563C>T	ExAC,gnomAD
rs1477121983	p.Arg1798Cys	missense variant	-	NC_000019.10:g.5210564G>A	TOPMed
rs771577284	p.Arg1798Pro	missense variant	-	NC_000019.10:g.5210563C>G	ExAC,gnomAD
rs749866143	p.Ser1799Phe	missense variant	-	NC_000019.10:g.5210560G>A	ExAC,gnomAD
rs773706905	p.Arg1801Cys	missense variant	-	NC_000019.10:g.5210555G>A	ExAC,TOPMed,gnomAD
rs770322238	p.Arg1801His	missense variant	-	NC_000019.10:g.5210554C>T	ExAC,gnomAD
rs780731358	p.Val1806Ala	missense variant	-	NC_000019.10:g.5210539A>G	ExAC,gnomAD
rs995063565	p.Asp1808Glu	missense variant	-	NC_000019.10:g.5210532A>C	TOPMed,gnomAD
rs1440460687	p.Pro1809Leu	missense variant	-	NC_000019.10:g.5210530G>A	gnomAD
rs144421593	p.Ala1811Gly	missense variant	-	NC_000019.10:g.5210524G>C	ESP
rs779912281	p.Glu1812Lys	missense variant	-	NC_000019.10:g.5210522C>T	ExAC,gnomAD
rs1432193218	p.Met1815Val	missense variant	-	NC_000019.10:g.5210513T>C	gnomAD
rs1357194928	p.Pro1816Ser	missense variant	-	NC_000019.10:g.5210510G>A	TOPMed
rs1181690388	p.Gln1817His	missense variant	-	NC_000019.10:g.5210505C>A	TOPMed,gnomAD
rs529235837	p.Ile1819Thr	missense variant	-	NC_000019.10:g.5210500A>G	1000Genomes,ExAC,gnomAD
rs750429839	p.Leu1820Val	missense variant	-	NC_000019.10:g.5210498G>C	ExAC,gnomAD
rs764990671	p.Arg1821Gln	missense variant	-	NC_000019.10:g.5210494C>T	ExAC,TOPMed,gnomAD
rs747402108	p.Arg1829Gln	missense variant	-	NC_000019.10:g.5210470C>T	ExAC,TOPMed,gnomAD
rs147647579	p.Arg1829Trp	missense variant	-	NC_000019.10:g.5210471G>A	ESP,ExAC,TOPMed,gnomAD
rs1269269717	p.Arg1834Trp	missense variant	-	NC_000019.10:g.5208379G>A	TOPMed
rs771526918	p.Arg1834Gln	missense variant	-	NC_000019.10:g.5208378C>T	ExAC,TOPMed,gnomAD
rs745383561	p.Val1836Leu	missense variant	-	NC_000019.10:g.5208373C>G	ExAC,TOPMed,gnomAD
rs1412649581	p.Val1836Asp	missense variant	-	NC_000019.10:g.5208372A>T	TOPMed
rs1161731225	p.Arg1837Trp	missense variant	-	NC_000019.10:g.5208370G>A	TOPMed,gnomAD
rs368767528	p.Arg1837Gln	missense variant	-	NC_000019.10:g.5208369C>T	ESP,ExAC,TOPMed,gnomAD
rs368767528	p.Arg1837Leu	missense variant	-	NC_000019.10:g.5208369C>A	ESP,ExAC,TOPMed,gnomAD
rs1415456533	p.Gln1838Lys	missense variant	-	NC_000019.10:g.5208367G>T	gnomAD
rs1164066275	p.Gln1840Arg	missense variant	-	NC_000019.10:g.5208360T>C	gnomAD
rs1257575436	p.Pro1845Leu	missense variant	-	NC_000019.10:g.5208345G>A	gnomAD
rs777398236	p.Gln1847Ter	stop gained	-	NC_000019.10:g.5208340G>A	ExAC,gnomAD
rs903504424	p.Gly1848Ser	missense variant	-	NC_000019.10:g.5208337C>T	TOPMed,gnomAD
rs755986568	p.Gly1848Ala	missense variant	-	NC_000019.10:g.5208336C>G	ExAC,TOPMed,gnomAD
rs560052043	p.Val1849Met	missense variant	-	NC_000019.10:g.5208334C>T	1000Genomes,ExAC,gnomAD
rs148478353	p.Ser1852Leu	missense variant	-	NC_000019.10:g.5208324G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1483689636	p.Gly1855Asp	missense variant	-	NC_000019.10:g.5208315C>T	gnomAD
rs941491568	p.Ile1860Ser	missense variant	-	NC_000019.10:g.5208300A>C	TOPMed,gnomAD
rs941491568	p.Ile1860Thr	missense variant	-	NC_000019.10:g.5208300A>G	TOPMed,gnomAD
rs1224142038	p.Gly1861Val	missense variant	-	NC_000019.10:g.5208297C>A	TOPMed
rs1213233007	p.Gln1862His	missense variant	-	NC_000019.10:g.5208293T>G	TOPMed,gnomAD
rs761054434	p.Val1878Gly	missense variant	-	NC_000019.10:g.5208246A>C	ExAC,gnomAD
rs1458294662	p.His1879Gln	missense variant	-	NC_000019.10:g.5208242G>C	gnomAD
rs1275741790	p.Ser1881Asn	missense variant	-	NC_000019.10:g.5208237C>T	gnomAD
rs753044393	p.Gly1883Ser	missense variant	-	NC_000019.10:g.5208053C>T	ExAC,TOPMed,gnomAD
rs759155627	p.Val1884Met	missense variant	-	NC_000019.10:g.5208050C>T	ExAC,TOPMed,gnomAD
rs139519201	p.Gly1885Ser	missense variant	-	NC_000019.10:g.5208047C>T	ESP
rs145958658	p.Thr1887Ala	missense variant	-	NC_000019.10:g.5208041T>C	ESP,TOPMed
rs1477222866	p.Thr1887Met	missense variant	-	NC_000019.10:g.5208040G>A	TOPMed
rs1208800813	p.Gly1888Asp	missense variant	-	NC_000019.10:g.5208037C>T	gnomAD
rs142977438	p.Val1889Ile	missense variant	-	NC_000019.10:g.5208035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1235729013	p.Ile1891Thr	missense variant	-	NC_000019.10:g.5208028A>G	gnomAD
rs772956659	p.Thr1892Met	missense variant	-	NC_000019.10:g.5208025G>A	ExAC,TOPMed,gnomAD
rs748156971	p.Leu1893His	missense variant	-	NC_000019.10:g.5208022A>T	ExAC,gnomAD
rs942270803	p.Ile1895Phe	missense variant	-	NC_000019.10:g.5208017T>A	TOPMed
rs942270803	p.Ile1895Val	missense variant	-	NC_000019.10:g.5208017T>C	TOPMed
rs768615091	p.Val1896Met	missense variant	-	NC_000019.10:g.5208014C>T	ExAC,TOPMed,gnomAD
rs1042776388	p.Arg1899Trp	missense variant	-	NC_000019.10:g.5208005G>A	TOPMed
rs752031088	p.Arg1899Gln	missense variant	-	NC_000019.10:g.5208004C>T	gnomAD
rs1172748468	p.Met1900Lys	missense variant	-	NC_000019.10:g.5208001A>T	TOPMed,gnomAD
rs1172748468	p.Met1900Thr	missense variant	-	NC_000019.10:g.5208001A>G	TOPMed,gnomAD
rs746059446	p.Arg1901Gln	missense variant	-	NC_000019.10:g.5207998C>T	ExAC,gnomAD
rs757213585	p.Val1905Leu	missense variant	-	NC_000019.10:g.5207987C>A	ExAC,TOPMed,gnomAD
rs757213585	p.Val1905Met	missense variant	-	NC_000019.10:g.5207987C>T	ExAC,TOPMed,gnomAD
rs1254586251	p.Val1906Ala	missense variant	-	NC_000019.10:g.5207983A>G	gnomAD
rs749395911	p.Asp1907Gly	missense variant	-	NC_000019.10:g.5207980T>C	ExAC,gnomAD
rs1186474095	p.Asp1907His	missense variant	-	NC_000019.10:g.5207981C>G	gnomAD
rs1203036687	p.Phe1909Leu	missense variant	-	NC_000019.10:g.5207975A>G	TOPMed,gnomAD
rs115470613	p.Thr1911Met	missense variant	-	NC_000019.10:g.5207968G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs115470613	p.Thr1911Lys	missense variant	-	NC_000019.10:g.5207968G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs755356872	p.Met1914Ile	missense variant	-	NC_000019.10:g.5207958C>T	ExAC,TOPMed,gnomAD
rs755356872	p.Met1914Ile	missense variant	-	NC_000019.10:g.5207958C>A	ExAC,TOPMed,gnomAD
rs767844549	p.Met1914Thr	missense variant	-	NC_000019.10:g.5207959A>G	ExAC,TOPMed,gnomAD
rs1290109580	p.Arg1919Trp	missense variant	-	NC_000019.10:g.5207945G>A	gnomAD
rs1412878073	p.Arg1919Gln	missense variant	-	NC_000019.10:g.5207944C>T	gnomAD
rs968335743	p.Pro1920Leu	missense variant	-	NC_000019.10:g.5207941G>A	gnomAD
rs1382306771	p.Met1922Thr	missense variant	-	NC_000019.10:g.5207935A>G	gnomAD
rs762312580	p.Met1922Val	missense variant	-	NC_000019.10:g.5207936T>C	ExAC,TOPMed,gnomAD
rs762312580	p.Met1922Leu	missense variant	-	NC_000019.10:g.5207936T>A	ExAC,TOPMed,gnomAD
rs1157702828	p.Met1922Ile	missense variant	-	NC_000019.10:g.5207934C>A	gnomAD
rs1472934646	p.Val1923Leu	missense variant	-	NC_000019.10:g.5207933C>A	TOPMed
rs1414682876	p.Thr1925Lys	missense variant	-	NC_000019.10:g.5207926G>T	TOPMed,gnomAD
rs1414682876	p.Thr1925Ile	missense variant	-	NC_000019.10:g.5207926G>A	TOPMed,gnomAD
rs1230180081	p.Asp1927His	missense variant	-	NC_000019.10:g.5206842C>G	TOPMed
rs199713079	p.Gln1930His	missense variant	-	NC_000019.10:g.5206831C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs747508872	p.Cys1932Ser	missense variant	-	NC_000019.10:g.5206826C>G	ExAC,gnomAD
rs1350885501	p.Tyr1933His	missense variant	-	NC_000019.10:g.5206824A>G	gnomAD
rs1326058191	p.Ala1935Val	missense variant	-	NC_000019.10:g.5206817G>A	gnomAD
rs1265207217	p.Glu1938Gly	missense variant	-	NC_000019.10:g.5206808T>C	TOPMed
rs750035643	p.Glu1938Lys	missense variant	-	NC_000019.10:g.5206809C>T	ExAC,gnomAD
rs200187372	p.Gly1941Arg	missense variant	-	NC_000019.10:g.5206800C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1203152786	p.Ser1942Thr	missense variant	-	NC_000019.10:g.5206796C>G	TOPMed
rs750760376	p.Thr1948Ser	missense variant	-	NC_000019.10:g.5206779T>A	ExAC,TOPMed,gnomAD
rs750760376	p.Thr1948Pro	missense variant	-	NC_000019.10:g.5206779T>G	ExAC,TOPMed,gnomAD
rs750760376	p.Thr1948Ala	missense variant	-	NC_000019.10:g.5206779T>C	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0009319	Colitis	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE;LHGDN
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	LHGDN
C0014474	Ependymoma	disease	BEFREE
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C1322252	Chordoid Glioma of the Third Ventricle	disease	BEFREE
C1527249	Colorectal Cancer	disease	UNIPROT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004721	phosphoprotein phosphatase activity	IDA
GO:0004725	protein tyrosine phosphatase activity	ISS
GO:0004725	protein tyrosine phosphatase activity	IBA
GO:0005515	protein binding	IPI
GO:0008201	heparin binding	ISS
GO:0035374	chondroitin sulfate binding	ISS
GO:0043395	heparan sulfate proteoglycan binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006470	protein dephosphorylation	IBA
GO:0006470	protein dephosphorylation	IDA
GO:0010977	negative regulation of neuron projection development	ISS
GO:0021510	spinal cord development	IEA
GO:0021549	cerebellum development	IEA
GO:0021766	hippocampus development	IEA
GO:0021987	cerebral cortex development	IEA
GO:0022038	corpus callosum development	IEA
GO:0030517	negative regulation of axon extension	ISS
GO:0032687	negative regulation of interferon-alpha production	IMP
GO:0032688	negative regulation of interferon-beta production	IMP
GO:0034164	negative regulation of toll-like receptor 9 signaling pathway	IMP
GO:0035335	peptidyl-tyrosine dephosphorylation	ISS
GO:0048671	negative regulation of collateral sprouting	ISS
GO:0048681	negative regulation of axon regeneration	ISS
GO:0050804	modulation of chemical synaptic transmission	IEA
GO:0061000	negative regulation of dendritic spine development	ISS
GO:0090557	establishment of endothelial intestinal barrier	IEA
GO:0099151	regulation of postsynaptic density assembly	IEA
GO:0099560	synaptic membrane adhesion	IBA
GO:0099560	synaptic membrane adhesion	IDA
GO:0099560	synaptic membrane adhesion	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	IDA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0030054	cell junction	IEA
GO:0030285	integral component of synaptic vesicle membrane	ISS
GO:0030424	axon	ISS
GO:0030426	growth cone	IEA
GO:0043204	perikaryon	IEA
GO:0070062	extracellular exosome	HDA
GO:0098685	Schaffer collateral - CA1 synapse	IEA
GO:0098978	glutamatergic synapse	IEA
GO:0099056	integral component of presynaptic membrane	IEA
GO:0099061	integral component of postsynaptic density membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112316	Neuronal System	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-162582	Signal Transduction	IEA
R-HSA-166520	Signaling by NTRKs	IEA
R-HSA-3000178	ECM proteoglycans	IEA
R-HSA-388844	Receptor-type tyrosine-protein phosphatases	TAS
R-HSA-6794362	Protein-protein interactions at synapses	TAS
R-HSA-8849932	Synaptic adhesion-like molecules	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	IEA
R-HSA-9034015	Signaling by NTRK3 (TRKC)	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PTPRS mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PTPRS mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PTPRS mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PTPRS mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PTPRS mRNA	25510870
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of PTPRS mRNA	30723492
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
C496492	abrine	abrine results in decreased expression of PTPRS mRNA	31054353
D020106	Acrylamide	Acrylamide results in decreased expression of PTPRS mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PTPRS intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PTPRS intron	30157460
D000661	Amphetamine	Amphetamine results in decreased expression of PTPRS mRNA	30779732
D001151	Arsenic	Arsenic affects the methylation of PTPRS gene	25304211
D001280	Atrazine	Atrazine results in decreased expression of PTPRS mRNA	25929836
D001280	Atrazine	Atrazine affects the methylation of PTPRS gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PTPRS intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to PTPRS promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PTPRS mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PTPRS mRNA	22228805
C006780	bisphenol A	bisphenol A affects the expression of PTPRS mRNA	25181051
C006780	bisphenol A	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PTPRS promoter	23359474
C006780	bisphenol A	bisphenol A results in increased expression of PTPRS mRNA	30816183
D002737	Chloroprene	Chloroprene results in increased expression of PTPRS mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PTPRS	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PTPRS mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PTPRS gene	20938992
D002990	Clobetasol	Clobetasol results in decreased expression of PTPRS mRNA	27462272
D003300	Copper	Copper results in increased expression of PTPRS mRNA	30556269
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PTPRS mRNA	17361019
D003993	Dibutyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PTPRS promoter	23359474
C000944	dicrotophos	dicrotophos results in increased expression of PTPRS mRNA	28302478
D004051	Diethylhexyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PTPRS promoter	23359474
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of PTPRS mRNA	19041683
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in increased expression of PTPRS mRNA	27638505
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PTPRS mRNA	29803840
D013759	Dronabinol	Dronabinol results in decreased expression of PTPRS mRNA	12237329
D004726	Endosulfan	Endosulfan results in decreased expression of PTPRS mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of PTPRS mRNA	22574217
D004958	Estradiol	Estradiol results in increased expression of PTPRS mRNA	19484750
D000431	Ethanol	Ethanol affects the expression of PTPRS mRNA	30319688
D000431	Ethanol	Ethanol affects the splicing of PTPRS mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PTPRS mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PTPRS mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PTPRS mRNA	23129252
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PTPRS	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PTPRS mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PTPRS gene	20938992
D005978	Glutathione	Glutathione deficiency results in decreased expression of PTPRS mRNA	20621112
C010974	glyphosate	glyphosate results in increased expression of PTPRS mRNA	28711546
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of PTPRS mRNA	21396975
D008694	Methamphetamine	Methamphetamine results in decreased expression of PTPRS mRNA	29802913
D008694	Methamphetamine	Methamphetamine results in increased expression of PTPRS mRNA	26307267
D008701	Methapyrilene	Methapyrilene results in increased expression of PTPRS mRNA	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PTPRS	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PTPRS mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PTPRS gene	20938992
D008769	Methylnitronitrosoguanidine	Methylnitronitrosoguanidine results in decreased expression of PTPRS mRNA	12634122
D008825	Miconazole	Miconazole results in increased expression of PTPRS mRNA	27462272
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PTPRS mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PTPRS mRNA	25554681; 25620056;
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of PTPRS mRNA	19812364
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PTPRS mRNA	26251327
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of PTPRS mRNA	25510870
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PTPRS mRNA	26272509
D010882	Piperonyl Butoxide	Piperonyl Butoxide results in decreased expression of PTPRS mRNA	22484513
C006253	pirinixic acid	pirinixic acid results in increased expression of PTPRS mRNA	18301758; 23811191;
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PTPRS protein	23718831
C005556	propionaldehyde	propionaldehyde results in decreased expression of PTPRS mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of PTPRS mRNA	24780913
D012402	Rotenone	Rotenone results in increased expression of PTPRS mRNA	28374803
C016104	sodium bichromate	sodium bichromate affects the expression of PTPRS mRNA	22110744
C016104	sodium bichromate	sodium bichromate results in decreased expression of PTPRS mRNA	25993096
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of PTPRS mRNA	21340527
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PTPRS mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of PTPRS mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PTPRS mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PTPRS mRNA	19465110
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PTPRS mRNA	22298810
D013853	Thioacetamide	Thioacetamide results in decreased expression of PTPRS mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in decreased expression of PTPRS mRNA	27760801
D014212	Tretinoin	Tretinoin results in decreased expression of PTPRS mRNA	21934132
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of PTPRS mRNA	15363585
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of PTPRS mRNA	26272509
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTPRS mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of PTPRS mRNA	23179753; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased expression of PTPRS mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased methylation of PTPRS gene	29154799
D014638	Vanadates	Vanadates results in increased expression of PTPRS mRNA	22714537
C025643	vinclozolin	vinclozolin results in increased expression of PTPRS mRNA	23034163
D000077337	Vorinostat	Vorinostat results in decreased expression of PTPRS mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0968	Cytoplasmic vesicle
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0358	Heparin-binding
KW-0378	Hydrolase
KW-0393	Immunoglobulin domain
KW-0472	Membrane
KW-0621	Polymorphism
KW-0904	Protein phosphatase
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0770	Synapse
KW-0771	Synaptosome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR013098	Ig_I-set
IPR003599	Ig_sub
IPR003598	Ig_sub2
IPR029021	Prot-tyrosine_phosphatase-like
IPR000242	PTPase_domain
IPR016130	Tyr_Pase_AS
IPR003595	Tyr_Pase_cat
IPR000387	TYR_PHOSPHATASE_dom

PROSITE

PROSITE ID	PROSITE Term
PS50853	FN3
PS50835	IG_LIKE
PS00383	TYR_PHOSPHATASE_1
PS50056	TYR_PHOSPHATASE_2
PS50055	TYR_PHOSPHATASE_PTP

Pfam

Pfam ID	Pfam Term
PF00041	fn3
PF07679	I-set
PF00102	Y_phosphatase

Gene: PTPRS

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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