CleftGeneDB-Search

Gene: LRP4

Basic information

Tag	Content
Uniprot ID	O75096; B2RN39; Q4AC85; Q5KTZ5;
Entrez ID	4038
Genbank protein ID	BAE19679.1; AAH37360.1; AAI36669.1; AAI36668.1; AAH41048.1; BAD83615.1; BAA32468.1;
Genbank nucleotide ID	NM_002334.3
Ensembl protein ID	ENSP00000367888
Ensembl nucleotide ID	ENSG00000134569
Gene name	Low-density lipoprotein receptor-related protein 4
Gene symbol	LRP4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity).
Sequence	MRRQWGALLL GALLCAHGLA SSPECACGRS HFTCAVSALG ECTCIPAQWQ CDGDNDCGDH 60 SDEDGCILPT CSPLDFHCDN GKCIRRSWVC DGDNDCEDDS DEQDCPPREC EEDEFPCQNG 120 YCIRSLWHCD GDNDCGDNSD EQCDMRKCSD KEFRCSDGSC IAEHWYCDGD TDCKDGSDEE 180 NCPSAVPAPP CNLEEFQCAY GRCILDIYHC DGDDDCGDWS DESDCSSHQP CRSGEFMCDS 240 GLCINAGWRC DGDADCDDQS DERNCTTSMC TAEQFRCHSG RCVRLSWRCD GEDDCADNSD 300 EENCENTGSP QCALDQFLCW NGRCIGQRKL CNGVNDCGDN SDESPQQNCR PRTGEENCNV 360 NNGGCAQKCQ MVRGAVQCTC HTGYRLTEDG HTCQDVNECA EEGYCSQGCT NSEGAFQCWC 420 ETGYELRPDR RSCKALGPEP VLLFANRIDI RQVLPHRSEY TLLLNNLENA IALDFHHRRE 480 LVFWSDVTLD RILRANLNGS NVEEVVSTGL ESPGGLAVDW VHDKLYWTDS GTSRIEVANL 540 DGAHRKVLLW QNLEKPRAIA LHPMEGTIYW TDWGNTPRIE ASSMDGSGRR IIADTHLFWP 600 NGLTIDYAGR RMYWVDAKHH VIERANLDGS HRKAVISQGL PHPFAITVFE DSLYWTDWHT 660 KSINSANKFT GKNQEIIRNK LHFPMDIHTL HPQRQPAGKN RCGDNNGGCT HLCLPSGQNY 720 TCACPTGFRK ISSHACAQSL DKFLLFARRM DIRRISFDTE DLSDDVIPLA DVRSAVALDW 780 DSRDDHVYWT DVSTDTISRA KWDGTGQEVV VDTSLESPAG LAIDWVTNKL YWTDAGTDRI 840 EVANTDGSMR TVLIWENLDR PRDIVVEPMG GYMYWTDWGA SPKIERAGMD ASGRQVIISS 900 NLTWPNGLAI DYGSQRLYWA DAGMKTIEFA GLDGSKRKVL IGSQLPHPFG LTLYGERIYW 960 TDWQTKSIQS ADRLTGLDRE TLQENLENLM DIHVFHRRRP PVSTPCAMEN GGCSHLCLRS 1020 PNPSGFSCTC PTGINLLSDG KTCSPGMNSF LIFARRIDIR MVSLDIPYFA DVVVPINITM 1080 KNTIAIGVDP QEGKVYWSDS TLHRISRANL DGSQHEDIIT TGLQTTDGLA VDAIGRKVYW 1140 TDTGTNRIEV GNLDGSMRKV LVWQNLDSPR AIVLYHEMGF MYWTDWGENA KLERSGMDGS 1200 DRAVLINNNL GWPNGLTVDK ASSQLLWADA HTERIEAADL NGANRHTLVS PVQHPYGLTL 1260 LDSYIYWTDW QTRSIHRADK GTGSNVILVR SNLPGLMDMQ AVDRAQPLGF NKCGSRNGGC 1320 SHLCLPRPSG FSCACPTGIQ LKGDGKTCDP SPETYLLFSS RGSIRRISLD TSDHTDVHVP 1380 VPELNNVISL DYDSVDGKVY YTDVFLDVIR RADLNGSNME TVIGRGLKTT DGLAVDWVAR 1440 NLYWTDTGRN TIEASRLDGS CRKVLINNSL DEPRAIAVFP RKGYLFWTDW GHIAKIERAN 1500 LDGSERKVLI NTDLGWPNGL TLDYDTRRIY WVDAHLDRIE SADLNGKLRQ VLVSHVSHPF 1560 ALTQQDRWIY WTDWQTKSIQ RVDKYSGRNK ETVLANVEGL MDIIVVSPQR QTGTNACGVN 1620 NGGCTHLCFA RASDFVCACP DEPDSRPCSL VPGLVPPAPR ATGMSEKSPV LPNTPPTTLY 1680 SSTTRTRTSL EEVEGRCSER DARLGLCARS NDAVPAAPGE GLHISYAIGG LLSILLILVV 1740 IAALMLYRHK KSKFTDPGMG NLTYSNPSYR TSTQEVKIEA IPKPAMYNQL CYKKEGGPDH 1800 NYTKEKIKIV EGICLLSGDD AEWDDLKQLR SSRGGLLRDH VCMKTDTVSI QASSGSLDDT 1860 ETEQLLQEEQ SECSSVHTAA TPERRGSLPD TGWKHERKLS SESQV 1905

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	LRP4	483628	J9P7Q4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	LRP4		A0A452FZF0		Capra hircus	Prediction	More>>
1:1 ortholog	LRP4	4038	O75096		Homo sapiens	Prediction	More>>
1:1 ortholog	Lrp4	228357	Q8VI56	CPO	Mus musculus	Publication	More>>
1:1 ortholog	LRP4		A0A2I3TEP4		Pan troglodytes	Prediction	More>>
1:1 ortholog	Lrp4		Q9QYP1		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1297553790	p.Arg2Lys	missense variant	-	NC_000011.10:g.46918375C>T	gnomAD
rs550380380	p.Trp5Arg	missense variant	-	NC_000011.10:g.46918367A>G	1000Genomes
rs774522355	p.Ala7Thr	missense variant	-	NC_000011.10:g.46918361C>T	ExAC,gnomAD
rs771113574	p.Ala12Val	missense variant	-	NC_000011.10:g.46918345G>A	ExAC,gnomAD
rs1448310579	p.Leu14Phe	missense variant	-	NC_000011.10:g.46918340G>A	TOPMed
rs1468417987	p.His17Gln	missense variant	-	NC_000011.10:g.46918329G>C	gnomAD
rs200914006	p.Gly18Asp	missense variant	-	NC_000011.10:g.46902929C>T	1000Genomes,TOPMed
rs542378473	p.Ala20Gly	missense variant	-	NC_000011.10:g.46902923G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs777229906	p.Ser22Ile	missense variant	-	NC_000011.10:g.46902917C>A	ExAC,gnomAD
rs200465829	p.Glu24Lys	missense variant	-	NC_000011.10:g.46902912C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183268699	p.Gly28Asp	missense variant	-	NC_000011.10:g.46902899C>T	gnomAD
rs752084061	p.Arg29Gln	missense variant	-	NC_000011.10:g.46902896C>T	ExAC,gnomAD
rs146259656	p.Arg29Trp	missense variant	-	NC_000011.10:g.46902897G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser37Arg	missense variant	-	NC_000011.10:g.46902871A>T	NCI-TCGA
rs762929666	p.Ala38Val	missense variant	-	NC_000011.10:g.46902869G>A	ExAC,gnomAD
rs773501026	p.Glu41Lys	missense variant	-	NC_000011.10:g.46902861C>T	ExAC,TOPMed,gnomAD
rs1378468014	p.Ile45Val	missense variant	-	NC_000011.10:g.46902849T>C	TOPMed
rs1314654325	p.Ala47Asp	missense variant	-	NC_000011.10:g.46902842G>T	gnomAD
rs1309344878	p.Gln48Pro	missense variant	-	NC_000011.10:g.46902839T>G	TOPMed
rs745869587	p.Asp54Glu	missense variant	-	NC_000011.10:g.46902820G>C	ExAC,TOPMed,gnomAD
COSM1492513	p.Asp54Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46902820G>T	NCI-TCGA Cosmic
rs774255246	p.Asn55Ser	missense variant	-	NC_000011.10:g.46902818T>C	ExAC,gnomAD
rs1362943824	p.Asn55His	missense variant	-	NC_000011.10:g.46902819T>G	TOPMed,gnomAD
COSM6132719	p.Cys57Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46902811G>C	NCI-TCGA Cosmic
RCV000380362	p.Gly58Arg	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46902810C>T	ClinVar
rs139901577	p.Gly58Arg	missense variant	-	NC_000011.10:g.46902810C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asp59GlyPheSerTerUnk	frameshift	-	NC_000011.10:g.46902806_46902807insC	NCI-TCGA
rs747813561	p.Asp64Glu	missense variant	-	NC_000011.10:g.46902790A>T	ExAC,TOPMed,gnomAD
rs1186531891	p.Asp64Asn	missense variant	-	NC_000011.10:g.46902792C>T	gnomAD
rs755671929	p.Asp64Val	missense variant	-	NC_000011.10:g.46902791T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu68Ile	missense variant	-	NC_000011.10:g.46900376G>T	NCI-TCGA
rs772646348	p.Thr70Ala	missense variant	-	NC_000011.10:g.46900370T>C	ExAC,gnomAD
rs1299239483	p.Ser72Phe	missense variant	-	NC_000011.10:g.46900363G>A	gnomAD
rs1462100682	p.Pro73Ser	missense variant	-	NC_000011.10:g.46900361G>A	gnomAD
NCI-TCGA novel	p.Leu74Ile	missense variant	-	NC_000011.10:g.46900358G>T	NCI-TCGA
rs769317290	p.Phe76Val	missense variant	-	NC_000011.10:g.46900352A>C	ExAC,gnomAD
rs780980400	p.His77Arg	missense variant	-	NC_000011.10:g.46900348T>C	ExAC,gnomAD
rs547765113	p.Asp79Glu	missense variant	-	NC_000011.10:g.46900341G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747313271	p.Asn80Asp	missense variant	-	NC_000011.10:g.46900340T>C	ExAC,gnomAD
RCV000722908	p.Cys83Phe	missense variant	-	NC_000011.10:g.46900330C>A	ClinVar
rs1011882566	p.Arg85His	missense variant	-	NC_000011.10:g.46900324C>T	gnomAD
rs1219866663	p.Arg85Cys	missense variant	-	NC_000011.10:g.46900325G>A	TOPMed
rs1219866663	p.Arg85Cys	missense variant	-	NC_000011.10:g.46900325G>A	NCI-TCGA
rs138239756	p.Arg86His	missense variant	-	NC_000011.10:g.46900321C>T	ESP,ExAC,TOPMed,gnomAD
rs138239756	p.Arg86Pro	missense variant	-	NC_000011.10:g.46900321C>G	ESP,ExAC,TOPMed,gnomAD
rs138239756	p.Arg86Leu	missense variant	-	NC_000011.10:g.46900321C>A	ESP,ExAC,TOPMed,gnomAD
rs1466848737	p.Arg86Cys	missense variant	-	NC_000011.10:g.46900322G>A	gnomAD
RCV000643975	p.Arg86His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46900321C>T	ClinVar
rs376802865	p.Ser87Phe	missense variant	-	NC_000011.10:g.46900318G>A	ESP,ExAC,TOPMed,gnomAD
rs754071316	p.Gly92Arg	missense variant	-	NC_000011.10:g.46900304C>T	ExAC,TOPMed,gnomAD
rs1231831456	p.Asp93Gly	missense variant	-	NC_000011.10:g.46900300T>C	TOPMed
rs1418475157	p.Asp93Asn	missense variant	-	NC_000011.10:g.46900301C>T	gnomAD
rs17848224	p.Asn94Lys	missense variant	-	NC_000011.10:g.46900296G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759355938	p.Asn94Ile	missense variant	-	NC_000011.10:g.46900297T>A	ExAC,TOPMed,gnomAD
rs759355938	p.Asn94Ser	missense variant	-	NC_000011.10:g.46900297T>C	ExAC,TOPMed,gnomAD
rs1431228331	p.Asp95Asn	missense variant	-	NC_000011.10:g.46900295C>T	gnomAD
rs1431228331	p.Asp95Asn	missense variant	-	NC_000011.10:g.46900295C>T	NCI-TCGA
rs766174802	p.Glu97Ala	missense variant	-	NC_000011.10:g.46900288T>G	ExAC,TOPMed,gnomAD
rs766174802	p.Glu97Val	missense variant	-	NC_000011.10:g.46900288T>A	ExAC,TOPMed,gnomAD
rs766174802	p.Glu97Val	missense variant	-	NC_000011.10:g.46900288T>A	NCI-TCGA Cosmic
rs762837686	p.Ser100Leu	missense variant	-	NC_000011.10:g.46900279G>A	ExAC,TOPMed,gnomAD
RCV000531555	p.Ser100Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46900279G>A	ClinVar
rs1350368496	p.Asp101Asn	missense variant	-	NC_000011.10:g.46900277C>T	TOPMed
rs769246087	p.Glu102Lys	missense variant	-	NC_000011.10:g.46900274C>T	ExAC,gnomAD
rs761350442	p.Gln103Glu	missense variant	-	NC_000011.10:g.46900271G>C	ExAC,TOPMed,gnomAD
rs747402851	p.Pro106Ala	missense variant	-	NC_000011.10:g.46900262G>C	ExAC,gnomAD
rs556889686	p.Pro106Leu	missense variant	-	NC_000011.10:g.46899976G>A	1000Genomes,ExAC,gnomAD
rs747402851	p.Pro106Ser	missense variant	-	NC_000011.10:g.46900262G>A	ExAC,gnomAD
rs772332690	p.Arg108Gln	missense variant	-	NC_000011.10:g.46899970C>T	ExAC,TOPMed,gnomAD
rs775191643	p.Arg108Gly	missense variant	-	NC_000011.10:g.46899971G>C	ExAC,TOPMed,gnomAD
rs775191643	p.Arg108Trp	missense variant	-	NC_000011.10:g.46899971G>A	ExAC,TOPMed,gnomAD
rs35014453	p.Arg108ProPheSerTerUnk	frameshift	-	NC_000011.10:g.46899970_46899971insG	NCI-TCGA
rs746174984	p.Cys110Ser	missense variant	-	NC_000011.10:g.46899965A>T	ExAC,gnomAD
rs1292022846	p.Glu111Lys	missense variant	-	NC_000011.10:g.46899962C>T	TOPMed
rs1171630290	p.Glu112Lys	missense variant	-	NC_000011.10:g.46899959C>T	gnomAD
rs771377480	p.Glu114Lys	missense variant	-	NC_000011.10:g.46899953C>T	ExAC,gnomAD
rs771377480	p.Glu114Lys	missense variant	-	NC_000011.10:g.46899953C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1239213317	p.Gln118Arg	missense variant	-	NC_000011.10:g.46899940T>C	TOPMed
NCI-TCGA novel	p.Asn119His	missense variant	-	NC_000011.10:g.46899938T>G	NCI-TCGA
rs749771283	p.Gly120Asp	missense variant	-	NC_000011.10:g.46899934C>T	ExAC,gnomAD
COSM4922997	p.Gly120Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46899935C>T	NCI-TCGA Cosmic
rs777870713	p.Tyr121Ter	stop gained	-	NC_000011.10:g.46899930G>T	ExAC,gnomAD
rs1268069891	p.Arg124Gln	missense variant	-	NC_000011.10:g.46899922C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg124Leu	missense variant	-	NC_000011.10:g.46899922C>A	NCI-TCGA
rs756180642	p.Ser125Arg	missense variant	-	NC_000011.10:g.46899918A>T	ExAC,gnomAD
rs765113454	p.Asp130Asn	missense variant	-	NC_000011.10:g.46899905C>T	ExAC,gnomAD
rs1323888185	p.Gly131Ser	missense variant	-	NC_000011.10:g.46899902C>T	gnomAD
rs1406894880	p.Asp132Gly	missense variant	-	NC_000011.10:g.46899898T>C	gnomAD
rs146894429	p.Asn133Asp	missense variant	-	NC_000011.10:g.46899896T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asp134Tyr	missense variant	-	NC_000011.10:g.46899893C>A	NCI-TCGA
rs267607222	p.Asp137Asn	missense variant	-	NC_000011.10:g.46899884C>T	TOPMed,gnomAD
rs267607222	p.Asp137Asn	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899884C>T	UniProt,dbSNP
VAR_063776	p.Asp137Asn	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899884C>T	UniProt
rs267607222	p.Asp137Asn	missense variant	-	NC_000011.10:g.46899884C>T	NCI-TCGA
RCV000006041	p.Asp137Asn	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899884C>T	ClinVar
rs781681900	p.Asp140Asn	missense variant	-	NC_000011.10:g.46899875C>T	ExAC,gnomAD
rs781681900	p.Asp140Tyr	missense variant	-	NC_000011.10:g.46899875C>A	ExAC,gnomAD
rs1490002157	p.Asp140Gly	missense variant	-	NC_000011.10:g.46899874T>C	gnomAD
rs781681900	p.Asp140Asn	missense variant	-	NC_000011.10:g.46899875C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu141Asp	missense variant	-	NC_000011.10:g.46899870C>A	NCI-TCGA
rs1246644250	p.Gln142Lys	missense variant	-	NC_000011.10:g.46899869G>T	gnomAD
rs1222707563	p.Gln142Arg	missense variant	-	NC_000011.10:g.46899868T>C	gnomAD
rs1406427577	p.Met145Thr	missense variant	-	NC_000011.10:g.46899500A>G	gnomAD
rs1178347520	p.Arg146His	missense variant	-	NC_000011.10:g.46899497C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg146Cys	missense variant	-	NC_000011.10:g.46899498G>A	NCI-TCGA
rs1239578585	p.Ser149Phe	missense variant	-	NC_000011.10:g.46899488G>A	gnomAD
rs200746048	p.Asp150Asn	missense variant	-	NC_000011.10:g.46899486C>T	1000Genomes,ExAC,gnomAD
rs1163449749	p.Phe153Leu	missense variant	-	NC_000011.10:g.46899477A>G	TOPMed
rs748199837	p.Arg154Leu	missense variant	-	NC_000011.10:g.46899473C>A	ExAC,TOPMed,gnomAD
rs748199837	p.Arg154His	missense variant	-	NC_000011.10:g.46899473C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg154Cys	missense variant	-	NC_000011.10:g.46899474G>A	NCI-TCGA
rs1285239491	p.Ser156Gly	missense variant	-	NC_000011.10:g.46899468T>C	gnomAD
rs193247849	p.Gly158Arg	missense variant	-	NC_000011.10:g.46899462C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs267607221	p.Cys160Tyr	missense variant	-	NC_000011.10:g.46899455C>T	ESP,TOPMed,gnomAD
rs267607221	p.Cys160Tyr	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899455C>T	UniProt,dbSNP
VAR_063777	p.Cys160Tyr	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899455C>T	UniProt
RCV000006044	p.Cys160Tyr	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899455C>T	ClinVar
rs780414123	p.Ile161Phe	missense variant	-	NC_000011.10:g.46899453T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu163Gly	missense variant	-	NC_000011.10:g.46899446T>C	NCI-TCGA
NCI-TCGA novel	p.Glu163Lys	missense variant	-	NC_000011.10:g.46899447C>T	NCI-TCGA
rs1303429562	p.His164Pro	missense variant	-	NC_000011.10:g.46899443T>G	TOPMed,gnomAD
rs202200592	p.Tyr166Cys	missense variant	-	NC_000011.10:g.46899437T>C	TOPMed
rs897915373	p.Tyr166Asn	missense variant	-	NC_000011.10:g.46899438A>T	TOPMed
rs1420880652	p.Gly169Asp	missense variant	-	NC_000011.10:g.46899428C>T	gnomAD
RCV000643977	p.Gly169Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899429C>T	ClinVar
rs201585639	p.Gly169Ser	missense variant	-	NC_000011.10:g.46899429C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1382538434	p.Thr171Ile	missense variant	-	NC_000011.10:g.46899422G>A	TOPMed,gnomAD
rs780819863	p.Asp172Asn	missense variant	-	NC_000011.10:g.46899420C>T	ExAC,gnomAD
rs780819863	p.Asp172His	missense variant	-	NC_000011.10:g.46899420C>G	ExAC,gnomAD
rs780819863	p.Asp172Asn	missense variant	-	NC_000011.10:g.46899420C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1185458127	p.Gly176Ser	missense variant	-	NC_000011.10:g.46899408C>T	gnomAD
RCV000723205	p.Ser177Tyr	missense variant	-	NC_000011.10:g.46899404G>T	ClinVar
rs201957426	p.Glu180Gly	missense variant	-	NC_000011.10:g.46899395T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763340602	p.Glu180Gln	missense variant	-	NC_000011.10:g.46899396C>G	ExAC,gnomAD
COSM688005	p.Glu180Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46899394C>A	NCI-TCGA Cosmic
RCV000643983	p.Glu180Gly	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899395T>C	ClinVar
rs1208569811	p.Asn181Asp	missense variant	-	NC_000011.10:g.46899393T>C	gnomAD
rs765567296	p.Pro183Ser	missense variant	-	NC_000011.10:g.46899387G>A	ExAC,TOPMed,gnomAD
rs764463798	p.Ala185Val	missense variant	-	NC_000011.10:g.46899026G>A	ExAC,TOPMed,gnomAD
rs760856907	p.Val186Gly	missense variant	-	NC_000011.10:g.46899023A>C	ExAC,gnomAD
COSM927342	p.Pro187Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46899021G>A	NCI-TCGA Cosmic
rs1463730442	p.Ala188Thr	missense variant	-	NC_000011.10:g.46899018C>T	gnomAD
RCV000503043	p.Ala188Val	missense variant	-	NC_000011.10:g.46899017G>A	ClinVar
rs772245536	p.Ala188Val	missense variant	-	NC_000011.10:g.46899017G>A	ExAC,TOPMed,gnomAD
rs1466750237	p.Pro189Leu	missense variant	-	NC_000011.10:g.46899014G>A	gnomAD
rs774700154	p.Pro190Arg	missense variant	-	NC_000011.10:g.46899011G>C	ExAC,TOPMed,gnomAD
rs774700154	p.Pro190His	missense variant	-	NC_000011.10:g.46899011G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys191AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.46899010G>-	NCI-TCGA
rs1456559859	p.Phe196Leu	missense variant	-	NC_000011.10:g.46898992G>T	TOPMed,gnomAD
rs1175337499	p.Phe196Leu	missense variant	-	NC_000011.10:g.46898994A>G	gnomAD
rs1456559859	p.Phe196Leu	missense variant	-	NC_000011.10:g.46898992G>C	TOPMed,gnomAD
rs147097280	p.Gln197Pro	missense variant	-	NC_000011.10:g.46898990T>G	ESP,ExAC,TOPMed,gnomAD
rs1320138389	p.Tyr200Cys	missense variant	-	NC_000011.10:g.46898981T>C	gnomAD
rs768430616	p.Arg202Cys	missense variant	-	NC_000011.10:g.46898976G>A	ExAC,gnomAD
rs149056824	p.Arg202His	missense variant	-	NC_000011.10:g.46898975C>T	ESP,ExAC,TOPMed,gnomAD
rs745581446	p.Asp206Asn	missense variant	-	NC_000011.10:g.46898964C>T	ExAC,TOPMed,gnomAD
rs745581446	p.Asp206His	missense variant	-	NC_000011.10:g.46898964C>G	ExAC,TOPMed,gnomAD
rs778376974	p.Ile207Val	missense variant	-	NC_000011.10:g.46898961T>C	ExAC,gnomAD
rs766051787	p.Asp211Asn	missense variant	-	NC_000011.10:g.46898949C>T	TOPMed
COSM1475460	p.Asp211His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46898949C>G	NCI-TCGA Cosmic
rs373107969	p.Gly212Ser	missense variant	-	NC_000011.10:g.46898946C>T	ESP,TOPMed,gnomAD
rs754099043	p.Asp213Asn	missense variant	-	NC_000011.10:g.46898943C>T	ExAC,TOPMed,gnomAD
rs371921930	p.Asp214Tyr	missense variant	-	NC_000011.10:g.46898940C>A	ESP,ExAC,TOPMed,gnomAD
rs371921930	p.Asp214Asn	missense variant	-	NC_000011.10:g.46898940C>T	ESP,ExAC,TOPMed,gnomAD
rs1398517108	p.Trp219Arg	missense variant	-	NC_000011.10:g.46898925A>G	TOPMed
rs1254162449	p.Asp224Ala	missense variant	-	NC_000011.10:g.46898909T>G	gnomAD
rs955884528	p.Ser227Pro	missense variant	-	NC_000011.10:g.46898675A>G	TOPMed
rs1030106018	p.His228Pro	missense variant	-	NC_000011.10:g.46898671T>G	gnomAD
rs1361092950	p.Gln229Pro	missense variant	-	NC_000011.10:g.46898668T>G	gnomAD
rs1299747020	p.Gln229His	missense variant	-	NC_000011.10:g.46898667C>G	gnomAD
rs773770584	p.Pro230Ala	missense variant	-	NC_000011.10:g.46898666G>C	ExAC,TOPMed,gnomAD
rs770467186	p.Arg232Cys	missense variant	-	NC_000011.10:g.46898660G>A	ExAC,TOPMed,gnomAD
rs770467186	p.Arg232Ser	missense variant	-	NC_000011.10:g.46898660G>T	ExAC,TOPMed,gnomAD
rs370407081	p.Arg232Pro	missense variant	-	NC_000011.10:g.46898659C>G	ESP,ExAC,TOPMed,gnomAD
rs770467186	p.Arg232Gly	missense variant	-	NC_000011.10:g.46898660G>C	ExAC,TOPMed,gnomAD
rs370407081	p.Arg232His	missense variant	-	NC_000011.10:g.46898659C>T	ESP,ExAC,TOPMed,gnomAD
rs1473275430	p.Gly234Arg	missense variant	-	NC_000011.10:g.46898654C>T	gnomAD
COSM3809297	p.Glu235Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46898651C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu235SerPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.46898651C>-	NCI-TCGA
rs1050607778	p.Met237Leu	missense variant	-	NC_000011.10:g.46898645T>G	TOPMed,gnomAD
rs778372112	p.Met237Ile	missense variant	-	NC_000011.10:g.46898643C>G	gnomAD
rs770285774	p.Cys238Tyr	missense variant	-	NC_000011.10:g.46898641C>T	ExAC,gnomAD
rs1207619708	p.Asp239Gly	missense variant	-	NC_000011.10:g.46898638T>C	gnomAD
COSM3986187	p.Ser240Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46898636T>A	NCI-TCGA Cosmic
COSM6068709	p.Leu242Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46898629A>G	NCI-TCGA Cosmic
rs781770287	p.Asn245Ser	missense variant	-	NC_000011.10:g.46898620T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn245Lys	missense variant	-	NC_000011.10:g.46898619A>C	NCI-TCGA
RCV000387619	p.Asn245Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46898620T>C	ClinVar
rs1391520154	p.Ala246Ser	missense variant	-	NC_000011.10:g.46898618C>A	TOPMed
rs752076926	p.Arg249Cys	missense variant	-	NC_000011.10:g.46898609G>A	ExAC,TOPMed,gnomAD
rs780066978	p.Arg249His	missense variant	-	NC_000011.10:g.46898608C>T	ExAC,TOPMed,gnomAD
rs769206514	p.Asp251Asn	missense variant	-	NC_000011.10:g.46898603C>T	ExAC,gnomAD
rs765380836	p.Asp253Ala	missense variant	-	NC_000011.10:g.46898596T>G	ExAC,gnomAD
rs752533443	p.Ala254Thr	missense variant	-	NC_000011.10:g.46898594C>T	ExAC,TOPMed,gnomAD
rs767281769	p.Ala254Val	missense variant	-	NC_000011.10:g.46898593G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp257His	missense variant	-	NC_000011.10:g.46898585C>G	NCI-TCGA
rs1168552978	p.Asp258Ala	missense variant	-	NC_000011.10:g.46898581T>G	gnomAD
rs770353955	p.Asp261Ala	missense variant	-	NC_000011.10:g.46898572T>G	ExAC,gnomAD
rs149906323	p.Arg263His	missense variant	-	NC_000011.10:g.46898566C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149906323	p.Arg263Leu	missense variant	-	NC_000011.10:g.46898566C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762468727	p.Arg263Cys	missense variant	-	NC_000011.10:g.46898567G>A	ExAC,TOPMed,gnomAD
rs1207423014	p.Thr266Ile	missense variant	-	NC_000011.10:g.46896994G>A	gnomAD
COSM1354023	p.Thr267Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896991G>A	NCI-TCGA Cosmic
rs761614096	p.Met269Val	missense variant	-	NC_000011.10:g.46896986T>C	ExAC,gnomAD
rs776417067	p.Met269Thr	missense variant	-	NC_000011.10:g.46896985A>G	ExAC,TOPMed,gnomAD
rs768904639	p.Thr271Met	missense variant	-	NC_000011.10:g.46896979G>A	ExAC,gnomAD
rs1431761298	p.Ala272Val	missense variant	-	NC_000011.10:g.46896976G>A	TOPMed
COSM4033116	p.Ala272Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896977C>T	NCI-TCGA Cosmic
rs1174698885	p.Glu273Asp	missense variant	-	NC_000011.10:g.46896972T>A	gnomAD
rs372468767	p.Gln274Glu	missense variant	-	NC_000011.10:g.46896971G>C	ESP,ExAC,TOPMed,gnomAD
rs772586265	p.Phe275Leu	missense variant	-	NC_000011.10:g.46896966G>T	ExAC,TOPMed,gnomAD
rs557300271	p.Arg276Ser	missense variant	-	NC_000011.10:g.46896965G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs557300271	p.Arg276Cys	missense variant	-	NC_000011.10:g.46896965G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1437177529	p.Ser279Leu	missense variant	-	NC_000011.10:g.46896955G>A	gnomAD
rs1335407378	p.Ser279Ala	missense variant	-	NC_000011.10:g.46896956A>C	gnomAD
rs972057872	p.Gly280Val	missense variant	-	NC_000011.10:g.46896952C>A	gnomAD
rs1296972146	p.Gly280Arg	missense variant	-	NC_000011.10:g.46896953C>G	TOPMed
rs1158489710	p.Arg281Cys	missense variant	-	NC_000011.10:g.46896950G>A	gnomAD
rs146670859	p.Arg281His	missense variant	-	NC_000011.10:g.46896949C>T	ESP,ExAC,TOPMed,gnomAD
rs146670859	p.Arg281Leu	missense variant	-	NC_000011.10:g.46896949C>A	ESP,ExAC,TOPMed,gnomAD
RCV000309038	p.Arg281Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896949C>A	ClinVar
rs1409728660	p.Cys282Tyr	missense variant	-	NC_000011.10:g.46896946C>T	gnomAD
NCI-TCGA novel	p.Val283Ile	missense variant	-	NC_000011.10:g.46896944C>T	NCI-TCGA
rs369307795	p.Arg284His	missense variant	-	NC_000011.10:g.46896940C>T	ESP,ExAC,TOPMed,gnomAD
rs369307795	p.Arg284Leu	missense variant	-	NC_000011.10:g.46896940C>A	ESP,ExAC,TOPMed,gnomAD
rs777995529	p.Arg284Cys	missense variant	-	NC_000011.10:g.46896941G>A	ExAC,TOPMed,gnomAD
rs750372656	p.Trp287Ser	missense variant	-	NC_000011.10:g.46896931C>G	ExAC,TOPMed,gnomAD
rs982467887	p.Arg288Cys	missense variant	-	NC_000011.10:g.46896929G>A	TOPMed,gnomAD
rs982467887	p.Arg288Ser	missense variant	-	NC_000011.10:g.46896929G>T	TOPMed,gnomAD
rs1285042004	p.Arg288His	missense variant	-	NC_000011.10:g.46896928C>T	TOPMed,gnomAD
COSM3447729	p.Gly291Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896920C>T	NCI-TCGA Cosmic
rs1202115438	p.Asp293Asn	missense variant	-	NC_000011.10:g.46896914C>T	TOPMed
rs761338061	p.Asp294Asn	missense variant	-	NC_000011.10:g.46896911C>T	ExAC,gnomAD
rs1232243402	p.Asn298Tyr	missense variant	-	NC_000011.10:g.46896899T>A	TOPMed
rs373551790	p.Asn303Lys	missense variant	-	NC_000011.10:g.46896882G>C	ESP,ExAC,TOPMed,gnomAD
COSM6132720	p.Asn306Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896874T>C	NCI-TCGA Cosmic
rs1271205297	p.Thr307Arg	missense variant	-	NC_000011.10:g.46896871G>C	TOPMed
rs1269020664	p.Gly308Glu	missense variant	-	NC_000011.10:g.46896335C>T	TOPMed
rs1344052338	p.Pro310His	missense variant	-	NC_000011.10:g.46896329G>T	gnomAD
rs375108263	p.Gln311His	missense variant	-	NC_000011.10:g.46896325T>G	ESP,ExAC,TOPMed,gnomAD
rs1428090167	p.Ala313Val	missense variant	-	NC_000011.10:g.46896320G>A	TOPMed
RCV000362404	p.Leu314Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896317A>G	ClinVar
rs771389583	p.Leu314Phe	missense variant	-	NC_000011.10:g.46896316C>G	ExAC,TOPMed,gnomAD
rs7926667	p.Leu314Ser	missense variant	-	NC_000011.10:g.46896317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1264995174	p.Asp315His	missense variant	-	NC_000011.10:g.46896315C>G	gnomAD
rs1190411614	p.Gln316His	missense variant	-	NC_000011.10:g.46896310C>G	gnomAD
rs763419849	p.Leu318Pro	missense variant	-	NC_000011.10:g.46896305A>G	ExAC,gnomAD
RCV000310332	p.Cys319Tyr	missense variant	-	NC_000011.10:g.46896302C>T	ClinVar
rs769749835	p.Cys319Tyr	missense variant	-	NC_000011.10:g.46896302C>T	ExAC,gnomAD
rs748468539	p.Trp320Arg	missense variant	-	NC_000011.10:g.46896300A>T	ExAC,gnomAD
rs1257559745	p.Asn321Lys	missense variant	-	NC_000011.10:g.46896295A>T	gnomAD
COSM4876682	p.Gly322Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896294C>G	NCI-TCGA Cosmic
rs1228779891	p.Gly322Arg	missense variant	-	NC_000011.10:g.46896294C>T	gnomAD
RCV000307983	p.Arg323His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896290C>T	ClinVar
rs745607286	p.Arg323His	missense variant	-	NC_000011.10:g.46896290C>T	ExAC,gnomAD
RCV000806077	p.Arg323His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896290C>T	ClinVar
rs772004553	p.Arg323Ser	missense variant	-	NC_000011.10:g.46896291G>T	ExAC,TOPMed,gnomAD
rs772004553	p.Arg323Cys	missense variant	-	NC_000011.10:g.46896291G>A	ExAC,TOPMed,gnomAD
rs753709386	p.Ile325Thr	missense variant	-	NC_000011.10:g.46896284A>G	ExAC,gnomAD
rs757296376	p.Ile325Val	missense variant	-	NC_000011.10:g.46896285T>C	ExAC,gnomAD
rs1346305519	p.Gly326Trp	missense variant	-	NC_000011.10:g.46896282C>A	TOPMed
rs1168058061	p.Gly333Val	missense variant	-	NC_000011.10:g.46896260C>A	TOPMed,gnomAD
RCV000180583	p.Gly333Arg	missense variant	-	NC_000011.10:g.46896261C>T	ClinVar
RCV000528344	p.Gly333Arg	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896261C>T	ClinVar
rs1168058061	p.Gly333Ala	missense variant	-	NC_000011.10:g.46896260C>G	TOPMed,gnomAD
rs61744209	p.Gly333Arg	missense variant	-	NC_000011.10:g.46896261C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000643979	p.Val334Gly	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896257A>C	ClinVar
rs752410125	p.Val334Ile	missense variant	-	NC_000011.10:g.46896258C>T	ExAC,TOPMed,gnomAD
rs767110056	p.Val334Gly	missense variant	-	NC_000011.10:g.46896257A>C	ExAC,TOPMed,gnomAD
rs766707622	p.Asp336Asn	missense variant	-	NC_000011.10:g.46896252C>T	ExAC,gnomAD
rs1195710420	p.Asp336Glu	missense variant	-	NC_000011.10:g.46896250G>T	gnomAD
COSM4877152	p.Ser341Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896236C>A	NCI-TCGA Cosmic
rs773586709	p.Asp342Asn	missense variant	-	NC_000011.10:g.46896234C>T	ExAC,TOPMed,gnomAD
rs1233205385	p.Pro345Thr	missense variant	-	NC_000011.10:g.46896225G>T	gnomAD
rs776932431	p.Gln347Leu	missense variant	-	NC_000011.10:g.46896218T>A	ExAC,gnomAD
rs768956508	p.Gln347His	missense variant	-	NC_000011.10:g.46896217C>A	ExAC,gnomAD
rs368744612	p.Arg350Trp	missense variant	-	NC_000011.10:g.46896210G>A	ExAC,gnomAD
rs770865989	p.Pro351Ser	missense variant	-	NC_000011.10:g.46896016G>A	ExAC,TOPMed,gnomAD
rs773234882	p.Arg352Gln	missense variant	-	NC_000011.10:g.46896012C>T	ExAC,TOPMed,gnomAD
rs148456240	p.Arg352Trp	missense variant	-	NC_000011.10:g.46896013G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769661653	p.Thr353Met	missense variant	-	NC_000011.10:g.46896009G>A	ExAC,TOPMed,gnomAD
rs780738790	p.Gly354Ser	missense variant	-	NC_000011.10:g.46896007C>T	ExAC,TOPMed,gnomAD
rs1446754894	p.Glu355Lys	missense variant	-	NC_000011.10:g.46896004C>T	gnomAD
rs754480153	p.Glu355Gly	missense variant	-	NC_000011.10:g.46896003T>C	ExAC,gnomAD
rs746669931	p.Glu356Lys	missense variant	-	NC_000011.10:g.46896001C>T	ExAC,gnomAD
rs1264284305	p.Asn357Lys	missense variant	-	NC_000011.10:g.46895996G>C	gnomAD
rs1233386437	p.Cys358Phe	missense variant	-	NC_000011.10:g.46895994C>A	TOPMed,gnomAD
rs1258590960	p.Val360Ile	missense variant	-	NC_000011.10:g.46895989C>T	TOPMed
rs765602909	p.Gly363Ser	missense variant	-	NC_000011.10:g.46895980C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln367His	missense variant	-	NC_000011.10:g.46895966C>A	NCI-TCGA
rs757748871	p.Gln370His	missense variant	-	NC_000011.10:g.46895957C>A	ExAC,TOPMed,gnomAD
rs1164240481	p.Met371Thr	missense variant	-	NC_000011.10:g.46895955A>G	gnomAD
rs754379700	p.Met371Val	missense variant	-	NC_000011.10:g.46895956T>C	ExAC,gnomAD
rs760783389	p.Arg373Pro	missense variant	-	NC_000011.10:g.46895949C>G	ExAC,gnomAD
RCV000532575	p.Arg373Trp	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895950G>A	ClinVar
rs760783389	p.Arg373Gln	missense variant	-	NC_000011.10:g.46895949C>T	ExAC,gnomAD
rs118009068	p.Arg373Trp	missense variant	-	NC_000011.10:g.46895950G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1006276270	p.Ala375Thr	missense variant	-	NC_000011.10:g.46895944C>T	TOPMed,gnomAD
rs777522999	p.Ala375GlyPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46895943_46895944insC	NCI-TCGA,NCI-TCGA Cosmic
rs1243051904	p.Val376Met	missense variant	-	NC_000011.10:g.46895941C>T	gnomAD
RCV000543335	p.Val376Met	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895941C>T	ClinVar
rs139006210	p.Gln377Arg	missense variant	-	NC_000011.10:g.46895937T>C	ESP,ExAC,TOPMed,gnomAD
RCV000643978	p.Gln377Arg	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895937T>C	ClinVar
rs377751594	p.Thr379Pro	missense variant	-	NC_000011.10:g.46895932T>G	ExAC,gnomAD
rs1336266220	p.His381Tyr	missense variant	-	NC_000011.10:g.46895926G>A	gnomAD
rs772931812	p.Arg385Gln	missense variant	-	NC_000011.10:g.46895913C>T	ExAC,TOPMed,gnomAD
rs200623154	p.Arg385Trp	missense variant	-	NC_000011.10:g.46895914G>A	ExAC,TOPMed,gnomAD
rs1408844681	p.Leu386Phe	missense variant	-	NC_000011.10:g.46895911G>A	TOPMed
rs1325437129	p.Asp389Asn	missense variant	-	NC_000011.10:g.46895902C>T	gnomAD
NCI-TCGA novel	p.Asp389Val	missense variant	-	NC_000011.10:g.46895901T>A	NCI-TCGA
rs1396772380	p.Gly390Glu	missense variant	-	NC_000011.10:g.46895898C>T	gnomAD
rs1441982549	p.Gly390Trp	missense variant	-	NC_000011.10:g.46895899C>A	gnomAD
rs776484311	p.Thr392Met	missense variant	-	NC_000011.10:g.46895892G>A	ExAC,TOPMed,gnomAD
rs939714045	p.Glu401Lys	missense variant	-	NC_000011.10:g.46895274C>T	TOPMed,gnomAD
rs939714045	p.Glu401Gln	missense variant	-	NC_000011.10:g.46895274C>G	TOPMed,gnomAD
rs1437003440	p.Glu402Asp	missense variant	-	NC_000011.10:g.46895269C>G	gnomAD
rs1465167714	p.Gly403Arg	missense variant	-	NC_000011.10:g.46895268C>T	gnomAD
rs1157887056	p.Tyr404Cys	missense variant	-	NC_000011.10:g.46895264T>C	gnomAD
NCI-TCGA novel	p.Gly408Cys	missense variant	-	NC_000011.10:g.46895253C>A	NCI-TCGA
rs185187069	p.Thr410Ile	missense variant	-	NC_000011.10:g.46895246G>A	1000Genomes
rs766573861	p.Asn411Ser	missense variant	-	NC_000011.10:g.46895243T>C	ExAC,gnomAD
rs1409525735	p.Asn411Lys	missense variant	-	NC_000011.10:g.46895242G>T	TOPMed,gnomAD
rs1267192034	p.Ser412Thr	missense variant	-	NC_000011.10:g.46895240C>G	TOPMed,gnomAD
rs893448826	p.Glu413Lys	missense variant	-	NC_000011.10:g.46895238C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu413Ter	stop gained	-	NC_000011.10:g.46895238C>A	NCI-TCGA
rs763852378	p.Cys418Trp	missense variant	-	NC_000011.10:g.46895221G>C	ExAC,gnomAD
rs147087497	p.Trp419Ter	stop gained	-	NC_000011.10:g.46895218C>T	ESP,ExAC,gnomAD
rs760661741	p.Trp419Ser	missense variant	-	NC_000011.10:g.46895219C>G	ExAC,gnomAD
rs1032020389	p.Trp419Gly	missense variant	-	NC_000011.10:g.46895220A>C	TOPMed
RCV000643980	p.Trp419Gly	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895220A>C	ClinVar
rs1386014748	p.Tyr424Cys	missense variant	-	NC_000011.10:g.46895204T>C	TOPMed
rs759041553	p.Leu426Ile	missense variant	-	NC_000011.10:g.46895199G>T	ExAC,TOPMed,gnomAD
rs569764064	p.Arg427Gln	missense variant	-	NC_000011.10:g.46895195C>T	1000Genomes,ExAC,gnomAD
rs770749728	p.Arg427Trp	missense variant	-	NC_000011.10:g.46895196G>A	ExAC,gnomAD
rs770279192	p.Asp429Asn	missense variant	-	NC_000011.10:g.46895190C>T	ExAC,TOPMed,gnomAD
rs140528156	p.Arg430Gly	missense variant	-	NC_000011.10:g.46895187G>C	ESP,ExAC,TOPMed,gnomAD
rs140528156	p.Arg430Trp	missense variant	-	NC_000011.10:g.46895187G>A	ESP,ExAC,TOPMed,gnomAD
rs370208609	p.Arg430Gln	missense variant	-	NC_000011.10:g.46895186C>T	ESP,ExAC,TOPMed,gnomAD
rs779964945	p.Arg431His	missense variant	-	NC_000011.10:g.46895183C>T	ExAC,TOPMed,gnomAD
rs747068883	p.Arg431Cys	missense variant	-	NC_000011.10:g.46895184G>A	ExAC,TOPMed,gnomAD
rs1460497631	p.Ser432Gly	missense variant	-	NC_000011.10:g.46895181T>C	gnomAD
rs1272131896	p.Leu436Arg	missense variant	-	NC_000011.10:g.46895168A>C	gnomAD
rs762496709	p.Gly437Glu	missense variant	-	NC_000011.10:g.46894819C>T	ExAC,gnomAD
rs1172787276	p.Glu439Asp	missense variant	-	NC_000011.10:g.46894812C>A	gnomAD
rs1453946399	p.Pro440Ser	missense variant	-	NC_000011.10:g.46894811G>A	gnomAD
rs773019506	p.Leu443Pro	missense variant	-	NC_000011.10:g.46894801A>G	ExAC,gnomAD
rs764941077	p.Phe444Leu	missense variant	-	NC_000011.10:g.46894797G>T	ExAC,TOPMed,gnomAD
rs764941077	p.Phe444Leu	missense variant	-	NC_000011.10:g.46894797G>C	ExAC,TOPMed,gnomAD
rs1023257694	p.Ala445Thr	missense variant	-	NC_000011.10:g.46894796C>T	gnomAD
rs1249971737	p.Arg447Pro	missense variant	-	NC_000011.10:g.46894789C>G	gnomAD
NCI-TCGA novel	p.Arg447His	missense variant	-	NC_000011.10:g.46894789C>T	NCI-TCGA
NCI-TCGA novel	p.Arg447Cys	missense variant	-	NC_000011.10:g.46894790G>A	NCI-TCGA
rs761341366	p.Ile448Val	missense variant	-	NC_000011.10:g.46894787T>C	ExAC,TOPMed,gnomAD
RCV000006045	p.Asp449Asn	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894784C>T	ClinVar
rs267607224	p.Asp449Asn	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894784C>T	UniProt,dbSNP
VAR_063778	p.Asp449Asn	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894784C>T	UniProt
rs267607224	p.Asp449Asn	missense variant	-	NC_000011.10:g.46894784C>T	TOPMed
rs556043090	p.Arg451Gln	missense variant	-	NC_000011.10:g.46894777C>T	1000Genomes,TOPMed,gnomAD
rs772150136	p.Arg451Trp	missense variant	-	NC_000011.10:g.46894778G>A	ExAC,TOPMed,gnomAD
rs772150136	p.Arg451Gly	missense variant	-	NC_000011.10:g.46894778G>C	ExAC,TOPMed,gnomAD
rs1186383603	p.Pro455Leu	missense variant	-	NC_000011.10:g.46894765G>A	TOPMed,gnomAD
rs1555174047	p.His456Tyr	missense variant	-	NC_000011.10:g.46894763G>A	-
RCV000643974	p.His456Tyr	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894763G>A	ClinVar
rs148856658	p.Arg457Gly	missense variant	-	NC_000011.10:g.46894760G>C	ESP,ExAC,TOPMed,gnomAD
rs749461745	p.Arg457His	missense variant	-	NC_000011.10:g.46894759C>T	ExAC,gnomAD
rs148856658	p.Arg457Cys	missense variant	-	NC_000011.10:g.46894760G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr460Cys	missense variant	-	NC_000011.10:g.46894750T>C	NCI-TCGA
rs267607223	p.Thr461Ala	missense variant	-	NC_000011.10:g.46894748T>C	gnomAD
rs267607223	p.Thr461Pro	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894748T>G	UniProt,dbSNP
VAR_063779	p.Thr461Pro	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894748T>G	UniProt
rs267607223	p.Thr461Pro	missense variant	-	NC_000011.10:g.46894748T>G	gnomAD
rs754663116	p.Thr461Arg	missense variant	-	NC_000011.10:g.46894747G>C	ExAC
RCV000006046	p.Thr461Pro	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894748T>G	ClinVar
COSM6132721	p.Asn469Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894723T>C	NCI-TCGA Cosmic
VAR_063780	p.Leu473Phe	Missense	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]	-	UniProt
rs78312938	p.Phe475Ser	missense variant	-	NC_000011.10:g.46894705A>G	ExAC,gnomAD
rs183638093	p.His476Pro	missense variant	-	NC_000011.10:g.46894702T>G	ExAC,gnomAD
rs191224670	p.His477Pro	missense variant	-	NC_000011.10:g.46894699T>G	ExAC,gnomAD
COSM1298081	p.His477Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894700G>A	NCI-TCGA Cosmic
rs1349507715	p.Arg478His	missense variant	-	NC_000011.10:g.46894696C>T	TOPMed,gnomAD
rs146660159	p.Arg478Cys	missense variant	-	NC_000011.10:g.46894697G>A	ESP,ExAC,TOPMed,gnomAD
rs764520299	p.Arg479His	missense variant	-	NC_000011.10:g.46894693C>T	ExAC,TOPMed,gnomAD
RCV000643982	p.Arg479Cys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894694G>A	ClinVar
RCV000395910	p.Arg479Cys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894694G>A	ClinVar
rs143207358	p.Arg479Cys	missense variant	-	NC_000011.10:g.46894694G>A	ESP,ExAC,TOPMed,gnomAD
rs201502598	p.Glu480Gln	missense variant	-	NC_000011.10:g.46894691C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu480LeuPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46894685_46894692CAAGCTCG>-	NCI-TCGA
rs556226743	p.Phe483Leu	missense variant	-	NC_000011.10:g.46894682A>G	1000Genomes,ExAC,gnomAD
rs774475696	p.Arg491Trp	missense variant	-	NC_000011.10:g.46894658G>A	ExAC,TOPMed,gnomAD
rs774924956	p.Arg491Gln	missense variant	-	NC_000011.10:g.46894657C>T	ExAC,TOPMed,gnomAD
rs1221065508	p.Ile492Val	missense variant	-	NC_000011.10:g.46894655T>C	TOPMed
rs1249104943	p.Leu493Phe	missense variant	-	NC_000011.10:g.46894652G>A	TOPMed
rs777801967	p.Arg494His	missense variant	-	NC_000011.10:g.46894648C>T	ExAC,TOPMed,gnomAD
RCV000337204	p.Arg494Cys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894649G>A	ClinVar
rs749530671	p.Arg494Cys	missense variant	-	NC_000011.10:g.46894649G>A	ExAC,TOPMed,gnomAD
RCV000521589	p.Arg494His	missense variant	-	NC_000011.10:g.46894648C>T	ClinVar
rs746759136	p.Asn496Ser	missense variant	-	NC_000011.10:g.46894642T>C	ExAC,TOPMed,gnomAD
rs746759136	p.Asn496Thr	missense variant	-	NC_000011.10:g.46894642T>G	ExAC,TOPMed,gnomAD
rs746759136	p.Asn496Ile	missense variant	-	NC_000011.10:g.46894642T>A	ExAC,TOPMed,gnomAD
rs779961860	p.Asn496Lys	missense variant	-	NC_000011.10:g.46894641G>T	ExAC,TOPMed,gnomAD
rs1347613812	p.Leu497Arg	missense variant	-	NC_000011.10:g.46894639A>C	TOPMed,gnomAD
rs750371073	p.Asn498His	missense variant	-	NC_000011.10:g.46894637T>G	ExAC,gnomAD
rs61749083	p.Asn498Lys	missense variant	-	NC_000011.10:g.46894635G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756651374	p.Gly499Ser	missense variant	-	NC_000011.10:g.46894634C>T	ExAC,gnomAD
COSM1354019	p.Gly499Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894633C>T	NCI-TCGA Cosmic
rs753538736	p.Ser500Asn	missense variant	-	NC_000011.10:g.46894630C>T	ExAC,gnomAD
rs1390639039	p.Ser500Gly	missense variant	-	NC_000011.10:g.46894631T>C	TOPMed
rs72897663	p.Asn501His	missense variant	-	NC_000011.10:g.46894628T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000282284	p.Asn501His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894628T>G	ClinVar
rs1166525077	p.Val502Met	missense variant	-	NC_000011.10:g.46894625C>T	TOPMed,gnomAD
rs760105990	p.Glu504Lys	missense variant	-	NC_000011.10:g.46894619C>T	ExAC,TOPMed,gnomAD
rs1286064806	p.Val506Leu	missense variant	-	NC_000011.10:g.46894613C>G	TOPMed
rs527611037	p.Thr508Ala	missense variant	-	NC_000011.10:g.46894607T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs568013477	p.Glu511Ala	missense variant	-	NC_000011.10:g.46894597T>G	1000Genomes,ExAC,gnomAD
rs371940440	p.Glu511Gln	missense variant	-	NC_000011.10:g.46894598C>G	ESP,ExAC,gnomAD
COSM688006	p.Glu511Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894596C>G	NCI-TCGA Cosmic
rs769948678	p.Ser512Asn	missense variant	-	NC_000011.10:g.46894594C>T	ExAC,gnomAD
rs773515672	p.Ser512Cys	missense variant	-	NC_000011.10:g.46894595T>A	ExAC,TOPMed,gnomAD
rs748357296	p.Pro513Arg	missense variant	-	NC_000011.10:g.46894591G>C	ExAC,TOPMed,gnomAD
rs1230695680	p.Ala517Thr	missense variant	-	NC_000011.10:g.46893121C>T	gnomAD
rs1479002757	p.Trp520Cys	missense variant	-	NC_000011.10:g.46893110C>G	TOPMed
rs375392182	p.Trp527Cys	missense variant	-	NC_000011.10:g.46893089C>A	ESP,ExAC,TOPMed,gnomAD
COSM4902860	p.Trp527Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46893090C>T	NCI-TCGA Cosmic
rs1434121673	p.Thr528Ser	missense variant	-	NC_000011.10:g.46893087G>C	TOPMed
rs267607220	p.Asp529Asn	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46893085C>T	UniProt,dbSNP
VAR_063781	p.Asp529Asn	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46893085C>T	UniProt
rs267607220	p.Asp529Asn	missense variant	-	NC_000011.10:g.46893085C>T	-
RCV000006040	p.Asp529Asn	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46893085C>T	ClinVar
COSM1298080	p.Ser530Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46893081G>A	NCI-TCGA Cosmic
rs755862754	p.Ser533Leu	missense variant	-	NC_000011.10:g.46893072G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg534Met	missense variant	-	NC_000011.10:g.46893069C>A	NCI-TCGA
NCI-TCGA novel	p.Glu536Gln	missense variant	-	NC_000011.10:g.46893064C>G	NCI-TCGA
rs770825953	p.Val537Met	missense variant	-	NC_000011.10:g.46893061C>T	ExAC,gnomAD
rs749239308	p.Ala538Val	missense variant	-	NC_000011.10:g.46893057G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu540Met	missense variant	-	NC_000011.10:g.46893052G>T	NCI-TCGA
rs777219630	p.Asp541Val	missense variant	-	NC_000011.10:g.46893048T>A	ExAC,TOPMed,gnomAD
rs371763360	p.Arg545Trp	missense variant	-	NC_000011.10:g.46893037G>A	ESP,ExAC,TOPMed,gnomAD
rs1415827753	p.Arg545Leu	missense variant	-	NC_000011.10:g.46893036C>A	gnomAD
rs1313161330	p.Lys546Arg	missense variant	-	NC_000011.10:g.46893033T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val547Met	missense variant	-	NC_000011.10:g.46893031C>T	NCI-TCGA
rs1337100286	p.Leu548Phe	missense variant	-	NC_000011.10:g.46893026C>G	TOPMed
rs1253940941	p.Gln551Ter	stop gained	-	NC_000011.10:g.46893019G>A	gnomAD
rs201253200	p.Asn552Tyr	missense variant	-	NC_000011.10:g.46893016T>A	1000Genomes,ExAC,gnomAD
rs751911145	p.Leu553Val	missense variant	-	NC_000011.10:g.46893013G>C	ExAC,gnomAD
rs758885238	p.Arg557Trp	missense variant	-	NC_000011.10:g.46893001G>A	ExAC,gnomAD
rs750935748	p.Arg557Gln	missense variant	-	NC_000011.10:g.46893000C>T	ExAC,TOPMed,gnomAD
COSM3415886	p.Arg557Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46893000C>A	NCI-TCGA Cosmic
rs765412419	p.Ile559Val	missense variant	-	NC_000011.10:g.46892995T>C	ExAC,gnomAD
COSM6068711	p.Ala560Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46892991G>A	NCI-TCGA Cosmic
rs1309368502	p.Pro563Leu	missense variant	-	NC_000011.10:g.46892982G>A	gnomAD
rs761922378	p.Met564Val	missense variant	-	NC_000011.10:g.46892980T>C	ExAC,gnomAD
rs754559385	p.Met564Thr	missense variant	-	NC_000011.10:g.46892979A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu565Lys	missense variant	-	NC_000011.10:g.46892977C>T	NCI-TCGA
rs774074917	p.Gly566Ala	missense variant	-	NC_000011.10:g.46892973C>G	ExAC,gnomAD
rs774074917	p.Gly566Asp	missense variant	-	NC_000011.10:g.46892973C>T	ExAC,gnomAD
rs774074917	p.Gly566Val	missense variant	-	NC_000011.10:g.46892973C>A	ExAC,gnomAD
rs143885233	p.Thr567Ile	missense variant	-	NC_000011.10:g.46890492G>A	ESP,TOPMed,gnomAD
COSM275906	p.Tyr569Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890486T>G	NCI-TCGA Cosmic
rs1418548616	p.Trp570Ter	stop gained	-	NC_000011.10:g.46890483C>T	gnomAD
NCI-TCGA novel	p.Asp572ProPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.46890466_46890478TGTTGCCCCAGTC>-	NCI-TCGA
COSM4912946	p.Gly574Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890472C>T	NCI-TCGA Cosmic
rs986525405	p.Thr576Ser	missense variant	-	NC_000011.10:g.46890465G>C	TOPMed
COSM3447725	p.Pro577Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890463G>A	NCI-TCGA Cosmic
COSM4033113	p.Pro577Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890462G>A	NCI-TCGA Cosmic
rs1249967861	p.Arg578Cys	missense variant	-	NC_000011.10:g.46890460G>A	gnomAD
rs1249967861	p.Arg578Ser	missense variant	-	NC_000011.10:g.46890460G>T	gnomAD
rs138301752	p.Arg578His	missense variant	-	NC_000011.10:g.46890459C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg578ValPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.46890460G>-	NCI-TCGA
NCI-TCGA novel	p.Glu580Gly	missense variant	-	NC_000011.10:g.46890453T>C	NCI-TCGA
rs1478658144	p.Ala581Asp	missense variant	-	NC_000011.10:g.46890450G>T	TOPMed
rs761718538	p.Ser583Asn	missense variant	-	NC_000011.10:g.46890444C>T	ExAC,gnomAD
rs1266509095	p.Ser583Gly	missense variant	-	NC_000011.10:g.46890445T>C	gnomAD
rs1306069334	p.Gly586Asp	missense variant	-	NC_000011.10:g.46890435C>T	gnomAD
rs746644343	p.Arg589His	missense variant	-	NC_000011.10:g.46890426C>T	ExAC,gnomAD
rs768149014	p.Arg589Cys	missense variant	-	NC_000011.10:g.46890427G>A	ExAC,gnomAD
rs144819885	p.Arg590Cys	missense variant	-	NC_000011.10:g.46890424G>A	ESP,gnomAD
rs149435615	p.Arg590His	missense variant	-	NC_000011.10:g.46890423C>T	ESP,ExAC,TOPMed,gnomAD
RCV000385597	p.Arg590His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890423C>T	ClinVar
RCV000699181	p.Arg590His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890423C>T	ClinVar
rs772341020	p.Ile591Val	missense variant	-	NC_000011.10:g.46890421T>C	ExAC,TOPMed
rs772341020	p.Ile591Leu	missense variant	-	NC_000011.10:g.46890421T>G	ExAC,TOPMed
rs779387728	p.Asp594Asn	missense variant	-	NC_000011.10:g.46890412C>T	ExAC,TOPMed,gnomAD
rs138878258	p.His596Arg	missense variant	-	NC_000011.10:g.46890405T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000306777	p.His596Arg	missense variant	-	NC_000011.10:g.46890405T>C	ClinVar
RCV000549519	p.His596Arg	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890405T>C	ClinVar
rs1430623427	p.Leu597Val	missense variant	-	NC_000011.10:g.46890403G>C	gnomAD
rs778007418	p.Phe598Ile	missense variant	-	NC_000011.10:g.46890400A>T	ExAC,gnomAD
rs752889847	p.Phe598Leu	missense variant	-	NC_000011.10:g.46890398G>T	ExAC,gnomAD
rs767738892	p.Pro600Thr	missense variant	-	NC_000011.10:g.46890394G>T	ExAC,gnomAD
rs755126115	p.Pro600Leu	missense variant	-	NC_000011.10:g.46890393G>A	ExAC,gnomAD
rs1251093617	p.Asn601Ser	missense variant	-	NC_000011.10:g.46890390T>C	gnomAD
rs575688727	p.Ile605Val	missense variant	-	NC_000011.10:g.46890379T>C	1000Genomes,ExAC,gnomAD
rs763525477	p.Asp606Asn	missense variant	-	NC_000011.10:g.46890376C>T	ExAC,gnomAD
rs1389594811	p.Gly609Arg	missense variant	-	NC_000011.10:g.46890367C>T	TOPMed,gnomAD
rs17848218	p.Arg610His	missense variant	-	NC_000011.10:g.46890363C>T	TOPMed
rs150253578	p.Arg610Cys	missense variant	-	NC_000011.10:g.46890364G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000527762	p.Arg610Cys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890364G>A	ClinVar
rs140282454	p.Arg611His	missense variant	-	NC_000011.10:g.46890360C>T	ESP,ExAC,TOPMed,gnomAD
rs771793515	p.Arg611Cys	missense variant	-	NC_000011.10:g.46890361G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp616Asn	missense variant	-	NC_000011.10:g.46890346C>T	NCI-TCGA
rs1465734620	p.His620Asn	missense variant	-	NC_000011.10:g.46890334G>T	gnomAD
rs1378272353	p.Ile622Val	missense variant	-	NC_000011.10:g.46890328T>C	gnomAD
rs1349342637	p.Glu623Lys	missense variant	-	NC_000011.10:g.46890325C>T	TOPMed,gnomAD
rs771358499	p.Ala625Val	missense variant	-	NC_000011.10:g.46890318G>A	ExAC,gnomAD
rs1304183702	p.Ser630Gly	missense variant	-	NC_000011.10:g.46890304T>C	TOPMed,gnomAD
rs749829375	p.His631Tyr	missense variant	-	NC_000011.10:g.46890301G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg632His	missense variant	-	NC_000011.10:g.46890297C>T	NCI-TCGA
NCI-TCGA novel	p.Arg632Cys	missense variant	-	NC_000011.10:g.46890298G>A	NCI-TCGA
rs1484210878	p.Ala634Thr	missense variant	-	NC_000011.10:g.46890292C>T	gnomAD
rs1209706178	p.Val635Ala	missense variant	-	NC_000011.10:g.46890288A>G	gnomAD
rs1473089731	p.Gln638Ter	stop gained	-	NC_000011.10:g.46890280G>A	TOPMed
rs778380145	p.Gln638Leu	missense variant	-	NC_000011.10:g.46890279T>A	ExAC,TOPMed,gnomAD
rs886048355	p.Pro641Leu	missense variant	-	NC_000011.10:g.46890114G>A	gnomAD
RCV000333383	p.Pro641Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890114G>A	ClinVar
NCI-TCGA novel	p.Pro643Leu	missense variant	-	NC_000011.10:g.46890108G>A	NCI-TCGA
COSM3869207	p.Ala645Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890102G>A	NCI-TCGA Cosmic
COSM1354017	p.Ala645Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890103C>T	NCI-TCGA Cosmic
rs1315045487	p.Ile646Val	missense variant	-	NC_000011.10:g.46890100T>C	gnomAD
rs1387910680	p.Val648Met	missense variant	-	NC_000011.10:g.46890094C>T	gnomAD
rs1321374132	p.Asp651Gly	missense variant	-	NC_000011.10:g.46890084T>C	gnomAD
rs747244183	p.Trp655Ter	stop gained	-	NC_000011.10:g.46890072C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr656Ile	missense variant	-	NC_000011.10:g.46890069G>A	NCI-TCGA
NCI-TCGA novel	p.Asp657Asn	missense variant	-	NC_000011.10:g.46890067C>T	NCI-TCGA
rs753672116	p.Ser662Asn	missense variant	-	NC_000011.10:g.46890051C>T	ExAC,TOPMed,gnomAD
rs1190494235	p.Asn664Asp	missense variant	-	NC_000011.10:g.46890046T>C	gnomAD
COSM688007	p.Asn664Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890045T>C	NCI-TCGA Cosmic
rs1448571037	p.Ser665Gly	missense variant	-	NC_000011.10:g.46890043T>C	gnomAD
rs756132486	p.Ala666Thr	missense variant	-	NC_000011.10:g.46890040C>T	ExAC,gnomAD
rs1276223193	p.Lys668Arg	missense variant	-	NC_000011.10:g.46890033T>C	TOPMed
rs752512047	p.Thr670Met	missense variant	-	NC_000011.10:g.46890027G>A	ExAC,TOPMed,gnomAD
rs1238879722	p.Lys672Met	missense variant	-	NC_000011.10:g.46890021T>A	TOPMed
rs759069056	p.Gln674Lys	missense variant	-	NC_000011.10:g.46890016G>T	ExAC,gnomAD
rs1225502945	p.Gln674Arg	missense variant	-	NC_000011.10:g.46890015T>C	gnomAD
rs1459106877	p.Glu675Lys	missense variant	-	NC_000011.10:g.46890013C>T	TOPMed
rs1177037768	p.Ile676Val	missense variant	-	NC_000011.10:g.46890010T>C	TOPMed
rs751288986	p.Ile677Val	missense variant	-	NC_000011.10:g.46890007T>C	ExAC,gnomAD
rs1298385569	p.Arg678Cys	missense variant	-	NC_000011.10:g.46890004G>A	TOPMed,gnomAD
COSM6132722	p.Arg678His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890003C>T	NCI-TCGA Cosmic
rs144675372	p.Lys680Gln	missense variant	-	NC_000011.10:g.46889998T>G	ESP,TOPMed
NCI-TCGA novel	p.Met685Val	missense variant	-	NC_000011.10:g.46889983T>C	NCI-TCGA
rs766178750	p.Asp686Gly	missense variant	-	NC_000011.10:g.46889979T>C	ExAC,TOPMed,gnomAD
rs1423421560	p.Thr689Pro	missense variant	-	NC_000011.10:g.46889971T>G	TOPMed
NCI-TCGA novel	p.Thr689Ile	missense variant	-	NC_000011.10:g.46889970G>A	NCI-TCGA
NCI-TCGA novel	p.Gln693SerPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.46889959G>-	NCI-TCGA
rs1323412236	p.Arg694Cys	missense variant	-	NC_000011.10:g.46889956G>A	TOPMed,gnomAD
rs1406466481	p.Arg694His	missense variant	-	NC_000011.10:g.46889955C>T	gnomAD
rs1002301696	p.Ala697Val	missense variant	-	NC_000011.10:g.46889946G>A	gnomAD
rs749973981	p.Arg701Leu	missense variant	-	NC_000011.10:g.46889524C>A	ExAC,TOPMed,gnomAD
rs1478952522	p.Arg701Cys	missense variant	-	NC_000011.10:g.46889525G>A	TOPMed,gnomAD
rs749973981	p.Arg701His	missense variant	-	NC_000011.10:g.46889524C>T	ExAC,TOPMed,gnomAD
rs1361879359	p.Cys702Phe	missense variant	-	NC_000011.10:g.46889521C>A	TOPMed
rs941115469	p.Gly703Glu	missense variant	-	NC_000011.10:g.46889518C>T	TOPMed,gnomAD
rs984063208	p.Asn705Asp	missense variant	-	NC_000011.10:g.46889513T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn705Lys	missense variant	-	NC_000011.10:g.46889511G>T	NCI-TCGA
RCV000698552	p.Gly707Arg	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46889507C>T	ClinVar
rs1382055371	p.Gly707Arg	missense variant	-	NC_000011.10:g.46889507C>T	TOPMed
rs777222715	p.Thr710Met	missense variant	-	NC_000011.10:g.46889497G>A	ExAC,TOPMed,gnomAD
rs372566777	p.His711Tyr	missense variant	-	NC_000011.10:g.46889495G>A	ESP,TOPMed
rs1228329471	p.Pro715Arg	missense variant	-	NC_000011.10:g.46889482G>C	gnomAD
rs761148147	p.Pro715Ser	missense variant	-	NC_000011.10:g.46889483G>A	ExAC,gnomAD
rs1351410845	p.Ser716Asn	missense variant	-	NC_000011.10:g.46889479C>T	gnomAD
rs1449945667	p.Thr721Asn	missense variant	-	NC_000011.10:g.46889464G>T	gnomAD
rs746117807	p.Ala723Val	missense variant	-	NC_000011.10:g.46889458G>A	ExAC,gnomAD
rs772133622	p.Ala723Thr	missense variant	-	NC_000011.10:g.46889459C>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys724Phe	missense variant	-	NC_000011.10:g.46889455C>A	NCI-TCGA
rs200855418	p.Pro725Ser	missense variant	-	NC_000011.10:g.46889453G>A	gnomAD
rs200855418	p.Pro725Thr	missense variant	-	NC_000011.10:g.46889453G>T	gnomAD
COSM4033112	p.Pro725Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46889452G>A	NCI-TCGA Cosmic
rs1472915863	p.Thr726Ile	missense variant	-	NC_000011.10:g.46889449G>A	gnomAD
rs1158247723	p.Thr726Ala	missense variant	-	NC_000011.10:g.46889450T>C	gnomAD
NCI-TCGA novel	p.Phe728Cys	missense variant	-	NC_000011.10:g.46889443A>C	NCI-TCGA
rs779649263	p.Arg729Cys	missense variant	-	NC_000011.10:g.46889441G>A	ExAC,TOPMed,gnomAD
rs981701779	p.Lys730Arg	missense variant	-	NC_000011.10:g.46889437T>C	TOPMed
NCI-TCGA novel	p.Ser732Ile	missense variant	-	NC_000011.10:g.46889431C>A	NCI-TCGA
rs1185594206	p.Ser733Asn	missense variant	-	NC_000011.10:g.46889428C>T	TOPMed,gnomAD
rs781117084	p.His734Pro	missense variant	-	NC_000011.10:g.46889425T>G	ExAC
rs1237077525	p.His734Tyr	missense variant	-	NC_000011.10:g.46889426G>A	gnomAD
rs746942856	p.Ala735Thr	missense variant	-	NC_000011.10:g.46889423C>T	ExAC,TOPMed,gnomAD
rs746942856	p.Ala735Pro	missense variant	-	NC_000011.10:g.46889423C>G	ExAC,TOPMed,gnomAD
rs779718508	p.Ala735Val	missense variant	-	NC_000011.10:g.46889422G>A	ExAC,gnomAD
rs1290566388	p.Cys736Ser	missense variant	-	NC_000011.10:g.46889419C>G	gnomAD
rs1330491610	p.Cys736Arg	missense variant	-	NC_000011.10:g.46889420A>G	gnomAD
rs376437208	p.Gln738Arg	missense variant	-	NC_000011.10:g.46889413T>C	ESP,ExAC,TOPMed,gnomAD
rs376437208	p.Gln738Pro	missense variant	-	NC_000011.10:g.46889413T>G	ESP,ExAC,TOPMed,gnomAD
rs745406319	p.Leu740Ile	missense variant	-	NC_000011.10:g.46886531G>T	ExAC,gnomAD
rs753484127	p.Asp741Val	missense variant	-	NC_000011.10:g.46886527T>A	ExAC,TOPMed,gnomAD
rs756917227	p.Asp741His	missense variant	-	NC_000011.10:g.46886528C>G	ExAC,TOPMed,gnomAD
rs756917227	p.Asp741Tyr	missense variant	-	NC_000011.10:g.46886528C>A	ExAC,TOPMed,gnomAD
rs1457345784	p.Lys742Glu	missense variant	-	NC_000011.10:g.46886525T>C	gnomAD
rs545112106	p.Arg748Gln	missense variant	-	NC_000011.10:g.46886506C>T	TOPMed
rs371792710	p.Arg748Ter	stop gained	-	NC_000011.10:g.46886507G>A	ESP,ExAC,gnomAD
rs539484177	p.Met750Thr	missense variant	-	NC_000011.10:g.46886500A>G	1000Genomes,ExAC,gnomAD
COSM1354016	p.Ile752Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886494A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile752Val	missense variant	-	NC_000011.10:g.46886495T>C	NCI-TCGA
rs753234669	p.Arg753Cys	missense variant	-	NC_000011.10:g.46886492G>A	ExAC,TOPMed,gnomAD
rs1188192419	p.Arg753His	missense variant	-	NC_000011.10:g.46886491C>T	TOPMed,gnomAD
COSM688008	p.Arg753Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886491C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg753Ser	missense variant	-	NC_000011.10:g.46886492G>T	NCI-TCGA
rs768053076	p.Arg754Gln	missense variant	-	NC_000011.10:g.46886488C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg754Gly	missense variant	-	NC_000011.10:g.46886489G>C	NCI-TCGA
COSM1354014	p.Ser756Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886482C>T	NCI-TCGA Cosmic
rs1189978589	p.Asp758His	missense variant	-	NC_000011.10:g.46886477C>G	gnomAD
rs1189978589	p.Asp758Asn	missense variant	-	NC_000011.10:g.46886477C>T	gnomAD
NCI-TCGA novel	p.Glu760Lys	missense variant	-	NC_000011.10:g.46886471C>T	NCI-TCGA
rs760065771	p.Asp761Asn	missense variant	-	NC_000011.10:g.46886468C>T	ExAC,TOPMed,gnomAD
rs1270087961	p.Ser763Thr	missense variant	-	NC_000011.10:g.46886462A>T	gnomAD
rs1340519265	p.Asp764Val	missense variant	-	NC_000011.10:g.46886458T>A	gnomAD
rs1356449163	p.Ala770Thr	missense variant	-	NC_000011.10:g.46886441C>T	TOPMed,gnomAD
rs576451198	p.Val772Met	missense variant	-	NC_000011.10:g.46886435C>T	1000Genomes,ExAC,gnomAD
rs374890595	p.Arg773His	missense variant	-	NC_000011.10:g.46886431C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs376444422	p.Arg773Cys	missense variant	-	NC_000011.10:g.46886432G>A	ESP,ExAC,TOPMed,gnomAD
RCV000275970	p.Arg773His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46886431C>T	ClinVar
rs1386127308	p.Ser774Asn	missense variant	-	NC_000011.10:g.46886428C>T	TOPMed,gnomAD
rs775391288	p.Leu778Phe	missense variant	-	NC_000011.10:g.46886417G>A	ExAC,gnomAD
rs1407716107	p.Trp780Leu	missense variant	-	NC_000011.10:g.46886410C>A	TOPMed,gnomAD
rs771948348	p.Arg783Gln	missense variant	-	NC_000011.10:g.46886401C>T	ExAC,TOPMed,gnomAD
rs745804953	p.Asp784Asn	missense variant	-	NC_000011.10:g.46886399C>T	ExAC,TOPMed,gnomAD
rs770405848	p.Asp785Gly	missense variant	-	NC_000011.10:g.46886395T>C	ExAC,gnomAD
rs778352818	p.Asp785Asn	missense variant	-	NC_000011.10:g.46886396C>T	ExAC,gnomAD
rs371677748	p.His786Gln	missense variant	-	NC_000011.10:g.46886391G>T	ESP,ExAC,TOPMed,gnomAD
rs368412829	p.Val787Met	missense variant	-	NC_000011.10:g.46886390C>T	ESP,TOPMed,gnomAD
rs368412829	p.Val787Leu	missense variant	-	NC_000011.10:g.46886390C>A	ESP,TOPMed,gnomAD
rs190872977	p.Val792Ile	missense variant	-	NC_000011.10:g.46886375C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753109967	p.Thr796Ile	missense variant	-	NC_000011.10:g.46886362G>A	ExAC,gnomAD
rs752042176	p.Lys801Ter	stop gained	-	NC_000011.10:g.46886348T>A	ExAC,gnomAD
COSM3687325	p.Lys801Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886346C>A	NCI-TCGA Cosmic
rs568002838	p.Thr805Lys	missense variant	-	NC_000011.10:g.46886335G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1489535633	p.Gly806Arg	missense variant	-	NC_000011.10:g.46886333C>G	TOPMed
rs1434051516	p.Gln807His	missense variant	-	NC_000011.10:g.46886328C>G	gnomAD
rs763080924	p.Glu808Lys	missense variant	-	NC_000011.10:g.46886327C>T	ExAC,TOPMed,gnomAD
rs1246395979	p.Val810Ile	missense variant	-	NC_000011.10:g.46886169C>T	TOPMed
rs750575417	p.Thr813Asn	missense variant	-	NC_000011.10:g.46886159G>T	ExAC,gnomAD
rs765390755	p.Ser814Ile	missense variant	-	NC_000011.10:g.46886156C>A	ExAC,TOPMed,gnomAD
rs1390984356	p.Glu816Asp	missense variant	-	NC_000011.10:g.46886149C>A	gnomAD
rs1160590698	p.Glu816Lys	missense variant	-	NC_000011.10:g.46886151C>T	gnomAD
rs142660660	p.Val826Ile	missense variant	-	NC_000011.10:g.46886121C>T	ESP,ExAC,TOPMed,gnomAD
rs1186169758	p.Asn828Ser	missense variant	-	NC_000011.10:g.46886114T>C	TOPMed,gnomAD
rs773987144	p.Thr833Arg	missense variant	-	NC_000011.10:g.46886099G>C	ExAC,gnomAD
rs1433481205	p.Thr837Arg	missense variant	-	NC_000011.10:g.46883973G>C	gnomAD
rs370281520	p.Arg839Gln	missense variant	-	NC_000011.10:g.46883967C>T	ESP,ExAC,TOPMed,gnomAD
rs148910063	p.Arg839Trp	missense variant	-	NC_000011.10:g.46883968G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg839Gly	missense variant	-	NC_000011.10:g.46883968G>C	NCI-TCGA
rs566821708	p.Ile840Thr	missense variant	-	NC_000011.10:g.46883964A>G	1000Genomes,ExAC,gnomAD
rs775969430	p.Asn844Asp	missense variant	-	NC_000011.10:g.46883953T>C	ExAC,gnomAD
rs768401396	p.Thr845Ile	missense variant	-	NC_000011.10:g.46883949G>A	ExAC,gnomAD
rs376413893	p.Ser848Thr	missense variant	-	NC_000011.10:g.46883940C>G	ESP,TOPMed,gnomAD
rs772497723	p.Val852Glu	missense variant	-	NC_000011.10:g.46883928A>T	ExAC,gnomAD
rs907765267	p.Ile854Val	missense variant	-	NC_000011.10:g.46883923T>C	TOPMed
rs757443033	p.Trp855Gly	missense variant	-	NC_000011.10:g.46883920A>C	ExAC,gnomAD
rs757443033	p.Trp855Arg	missense variant	-	NC_000011.10:g.46883920A>G	ExAC,gnomAD
COSM6068712	p.Trp855Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46883918C>A	NCI-TCGA Cosmic
rs781231056	p.Glu856Asp	missense variant	-	NC_000011.10:g.46883915C>A	ExAC,TOPMed,gnomAD
RCV000325056	p.Asn857Thr	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46883913T>G	ClinVar
rs754708237	p.Asn857Thr	missense variant	-	NC_000011.10:g.46883913T>G	ExAC,gnomAD
rs777703739	p.Asn857Asp	missense variant	-	NC_000011.10:g.46883914T>C	ExAC,gnomAD
rs1482880431	p.Leu858Ile	missense variant	-	NC_000011.10:g.46883911G>T	gnomAD
rs199997747	p.Arg860His	missense variant	-	NC_000011.10:g.46883904C>T	ExAC,TOPMed,gnomAD
rs1442722011	p.Arg860Ser	missense variant	-	NC_000011.10:g.46883905G>T	TOPMed
NCI-TCGA novel	p.Arg860Cys	missense variant	-	NC_000011.10:g.46883905G>A	NCI-TCGA
rs1216367812	p.Arg862Trp	missense variant	-	NC_000011.10:g.46883899G>A	TOPMed,gnomAD
rs766177806	p.Arg862Gln	missense variant	-	NC_000011.10:g.46883898C>T	ExAC,TOPMed,gnomAD
rs758144326	p.Asp863Glu	missense variant	-	NC_000011.10:g.46883894G>T	ExAC
rs765202931	p.Val865Met	missense variant	-	NC_000011.10:g.46883890C>T	ExAC,TOPMed,gnomAD
rs1408810608	p.Met869Lys	missense variant	-	NC_000011.10:g.46883877A>T	gnomAD
rs372599233	p.Met869Val	missense variant	-	NC_000011.10:g.46883878T>C	ExAC,TOPMed,gnomAD
rs1370824030	p.Met869Ile	missense variant	-	NC_000011.10:g.46883876C>G	gnomAD
rs372599233	p.Met869Leu	missense variant	-	NC_000011.10:g.46883878T>A	ExAC,TOPMed,gnomAD
rs1408810608	p.Met869Thr	missense variant	-	NC_000011.10:g.46883877A>G	gnomAD
rs776260999	p.Gly870Asp	missense variant	-	NC_000011.10:g.46883874C>T	ExAC,TOPMed,gnomAD
rs149730166	p.Gly870Cys	missense variant	-	NC_000011.10:g.46883875C>A	ESP,TOPMed,gnomAD
rs750264209	p.Tyr872Cys	missense variant	-	NC_000011.10:g.46881901T>C	ExAC,gnomAD
rs778662997	p.Met873Val	missense variant	-	NC_000011.10:g.46881899T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met873Ile	missense variant	-	NC_000011.10:g.46881897C>T	NCI-TCGA
rs373683358	p.Ala880Val	missense variant	-	NC_000011.10:g.46881877G>A	ESP,ExAC,TOPMed,gnomAD
RCV000272387	p.Ala880Val	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46881877G>A	ClinVar
NCI-TCGA novel	p.Ser881Asn	missense variant	-	NC_000011.10:g.46881874C>T	NCI-TCGA
rs1489861186	p.Ile884Val	missense variant	-	NC_000011.10:g.46881866T>C	TOPMed
rs1179167925	p.Arg886Gln	missense variant	-	NC_000011.10:g.46881859C>T	gnomAD
NCI-TCGA novel	p.Arg886Ter	stop gained	-	NC_000011.10:g.46881860G>A	NCI-TCGA
rs767317159	p.Gly888Val	missense variant	-	NC_000011.10:g.46881853C>A	ExAC,TOPMed,gnomAD
rs767317159	p.Gly888Asp	missense variant	-	NC_000011.10:g.46881853C>T	ExAC,TOPMed,gnomAD
rs774924942	p.Ala891Ser	missense variant	-	NC_000011.10:g.46881845C>A	ExAC,gnomAD
rs1307667102	p.Gly893Val	missense variant	-	NC_000011.10:g.46881838C>A	gnomAD
rs1208662959	p.Arg894His	missense variant	-	NC_000011.10:g.46881835C>T	gnomAD
rs773547550	p.Ile897Val	missense variant	-	NC_000011.10:g.46881827T>C	ExAC,gnomAD
rs1226237597	p.Ser900Phe	missense variant	-	NC_000011.10:g.46881817G>A	gnomAD
rs748270486	p.Thr903Ala	missense variant	-	NC_000011.10:g.46881809T>C	ExAC,gnomAD
rs768920196	p.Gly907Val	missense variant	-	NC_000011.10:g.46881796C>A	ExAC
NCI-TCGA novel	p.Ala909Thr	missense variant	-	NC_000011.10:g.46881791C>T	NCI-TCGA
rs1319734488	p.Ile910Leu	missense variant	-	NC_000011.10:g.46881788T>G	gnomAD
rs369179276	p.Tyr912His	missense variant	-	NC_000011.10:g.46881782A>G	ESP,TOPMed,gnomAD
rs756941634	p.Tyr912Phe	missense variant	-	NC_000011.10:g.46881781T>A	ExAC,gnomAD
rs376848284	p.Gly913Glu	missense variant	-	NC_000011.10:g.46881778C>T	ESP,ExAC,TOPMed,gnomAD
rs147259655	p.Arg916Cys	missense variant	-	NC_000011.10:g.46881770G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000643981	p.Arg916Cys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46881770G>A	ClinVar
rs147259655	p.Arg916Ser	missense variant	-	NC_000011.10:g.46881770G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752315031	p.Arg916His	missense variant	-	NC_000011.10:g.46881769C>T	ExAC,TOPMed,gnomAD
rs1363170019	p.Tyr918Asn	missense variant	-	NC_000011.10:g.46881764A>T	TOPMed
rs1486508644	p.Ala920Thr	missense variant	-	NC_000011.10:g.46881758C>T	gnomAD
COSM3809295	p.Asp921Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46881755C>T	NCI-TCGA Cosmic
rs766792288	p.Ala922Thr	missense variant	-	NC_000011.10:g.46881752C>T	ExAC,gnomAD
rs765716290	p.Gly923Ser	missense variant	-	NC_000011.10:g.46881749C>T	ExAC,TOPMed,gnomAD
rs1247727700	p.Met924Val	missense variant	-	NC_000011.10:g.46881746T>C	gnomAD
rs762291377	p.Lys925Arg	missense variant	-	NC_000011.10:g.46881742T>C	ExAC,gnomAD
rs776754786	p.Glu928Lys	missense variant	-	NC_000011.10:g.46881734C>T	ExAC,gnomAD
rs1478018191	p.Phe929Cys	missense variant	-	NC_000011.10:g.46881730A>C	TOPMed,gnomAD
rs768654279	p.Leu932Val	missense variant	-	NC_000011.10:g.46881722G>C	ExAC
rs754746102	p.Leu932LeuTerGlu	stop gained	-	NC_000011.10:g.46881720_46881721insTCTTAC	ExAC
rs747242156	p.Leu932Gln	missense variant	-	NC_000011.10:g.46881721A>T	ExAC
rs746556640	p.Asp933Gly	missense variant	-	NC_000011.10:g.46881718T>C	ExAC,TOPMed
rs1044241033	p.Ser935Arg	missense variant	-	NC_000011.10:g.46881713T>G	TOPMed,gnomAD
rs1044241033	p.Ser935Gly	missense variant	-	NC_000011.10:g.46881713T>C	TOPMed,gnomAD
rs749076731	p.Lys936Asn	missense variant	-	NC_000011.10:g.46881708C>A	ExAC,gnomAD
rs770789654	p.Lys936Thr	missense variant	-	NC_000011.10:g.46881709T>G	ExAC,gnomAD
rs762307866	p.Ser943Arg	missense variant	-	NC_000011.10:g.46879303T>G	ExAC,gnomAD
rs1218582533	p.Gln944Ter	stop gained	-	NC_000011.10:g.46879300G>A	gnomAD
rs368880157	p.Pro946Arg	missense variant	-	NC_000011.10:g.46879293G>C	ESP,ExAC,TOPMed,gnomAD
rs368880157	p.Pro946Leu	missense variant	-	NC_000011.10:g.46879293G>A	ESP,ExAC,TOPMed,gnomAD
rs760704709	p.His947Tyr	missense variant	-	NC_000011.10:g.46879291G>A	ExAC,gnomAD
COSM3447719	p.Thr952Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46879275G>A	NCI-TCGA Cosmic
rs775608977	p.Tyr954Cys	missense variant	-	NC_000011.10:g.46879269T>C	ExAC,TOPMed,gnomAD
rs772232191	p.Gly955Arg	missense variant	-	NC_000011.10:g.46879267C>T	ExAC,TOPMed,gnomAD
RCV000699205	p.Glu956Ter	nonsense	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46879264C>A	ClinVar
rs374161249	p.Arg957His	missense variant	-	NC_000011.10:g.46879260C>T	ESP,ExAC,TOPMed,gnomAD
rs374161249	p.Arg957Pro	missense variant	-	NC_000011.10:g.46879260C>G	ESP,ExAC,TOPMed,gnomAD
COSM3397713	p.Tyr959Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46879254T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp963CysPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46879241C>-	NCI-TCGA
rs1202089878	p.Gln964Glu	missense variant	-	NC_000011.10:g.46879240G>C	gnomAD
rs919556244	p.Thr965Ser	missense variant	-	NC_000011.10:g.46879236G>C	gnomAD
rs781238429	p.Ser967Gly	missense variant	-	NC_000011.10:g.46879231T>C	ExAC,gnomAD
rs781238429	p.Ser967Arg	missense variant	-	NC_000011.10:g.46879231T>G	ExAC,gnomAD
rs1196026009	p.Ser967Ile	missense variant	-	NC_000011.10:g.46879230C>A	gnomAD
rs1475679001	p.Gln969Ter	stop gained	-	NC_000011.10:g.46879225G>A	TOPMed
rs771933495	p.Ala971Thr	missense variant	-	NC_000011.10:g.46879219C>T	TOPMed,gnomAD
rs368011278	p.Arg973Gly	missense variant	-	NC_000011.10:g.46879213G>C	ESP,ExAC,TOPMed,gnomAD
rs200029707	p.Arg973Gln	missense variant	-	NC_000011.10:g.46879212C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200029707	p.Arg973Leu	missense variant	-	NC_000011.10:g.46879212C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368011278	p.Arg973Trp	missense variant	-	NC_000011.10:g.46879213G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp978Asn	missense variant	-	NC_000011.10:g.46879198C>T	NCI-TCGA
rs757565682	p.Arg979Gly	missense variant	-	NC_000011.10:g.46879195G>C	ExAC,TOPMed,gnomAD
rs754372042	p.Arg979Gln	missense variant	-	NC_000011.10:g.46879194C>T	ExAC,TOPMed,gnomAD
rs757565682	p.Arg979Trp	missense variant	-	NC_000011.10:g.46879195G>A	ExAC,TOPMed,gnomAD
rs764623614	p.Glu980Lys	missense variant	-	NC_000011.10:g.46879192C>T	ExAC,TOPMed,gnomAD
rs562287153	p.Thr981Ser	missense variant	-	NC_000011.10:g.46879188G>C	1000Genomes,ExAC,gnomAD
rs1287755727	p.Leu986Met	missense variant	-	NC_000011.10:g.46879174G>T	gnomAD
NCI-TCGA novel	p.Asn988MetPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46879167_46879168insCTCA	NCI-TCGA
NCI-TCGA novel	p.Asn988SerPheSerTerUnk	stop gained	-	NC_000011.10:g.46879169_46879170insACTACAGCTGCCACATATAAGCTGATGAC	NCI-TCGA
rs374107282	p.Leu989Val	missense variant	-	NC_000011.10:g.46879165G>C	ESP,ExAC,TOPMed,gnomAD
COSM4901149	p.His993Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46879153G>A	NCI-TCGA Cosmic
rs370091369	p.Val994Ile	missense variant	-	NC_000011.10:g.46879150C>T	ESP,ExAC,TOPMed,gnomAD
rs761742866	p.His996Tyr	missense variant	-	NC_000011.10:g.46879144G>A	ExAC,gnomAD
rs776547887	p.Arg997His	missense variant	-	NC_000011.10:g.46879140C>T	ExAC,TOPMed,gnomAD
rs1182075915	p.Arg997Cys	missense variant	-	NC_000011.10:g.46879141G>A	TOPMed,gnomAD
rs746964729	p.Arg998His	missense variant	-	NC_000011.10:g.46879137C>T	ExAC,TOPMed,gnomAD
rs61749460	p.Arg998Cys	missense variant	-	NC_000011.10:g.46879138G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779430923	p.Arg999Gln	missense variant	-	NC_000011.10:g.46879134C>T	ExAC,TOPMed,gnomAD
rs1404612994	p.Arg999Trp	missense variant	-	NC_000011.10:g.46879135G>A	gnomAD
rs1190359818	p.Pro1001Arg	missense variant	-	NC_000011.10:g.46879128G>C	TOPMed
NCI-TCGA novel	p.Pro1001Ser	missense variant	-	NC_000011.10:g.46879129G>A	NCI-TCGA
rs1250053876	p.Val1002Leu	missense variant	-	NC_000011.10:g.46879126C>G	TOPMed
rs748934744	p.Thr1004Ile	missense variant	-	NC_000011.10:g.46879032G>A	ExAC,gnomAD
rs1384220005	p.Pro1005Arg	missense variant	-	NC_000011.10:g.46879029G>C	gnomAD
rs1238838888	p.Pro1005Ser	missense variant	-	NC_000011.10:g.46879030G>A	gnomAD
rs886048352	p.Met1008Val	missense variant	-	NC_000011.10:g.46879021T>C	-
RCV000264061	p.Met1008Val	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46879021T>C	ClinVar
NCI-TCGA novel	p.Met1008Thr	missense variant	-	NC_000011.10:g.46879020A>G	NCI-TCGA
rs778125205	p.Gly1011Asp	missense variant	-	NC_000011.10:g.46879011C>T	ExAC,gnomAD
rs748636802	p.Gly1012Asp	missense variant	-	NC_000011.10:g.46879008C>T	ExAC,TOPMed,gnomAD
rs748636802	p.Gly1012Val	missense variant	-	NC_000011.10:g.46879008C>A	ExAC,TOPMed,gnomAD
rs1424972529	p.Gly1012Ser	missense variant	-	NC_000011.10:g.46879009C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1016Met	missense variant	-	NC_000011.10:g.46878997G>T	NCI-TCGA
VAR_063782	p.Cys1017Arg	Missense	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]	-	UniProt
rs182517846	p.Arg1019Lys	missense variant	-	NC_000011.10:g.46878987C>T	1000Genomes,TOPMed
rs61742871	p.Asn1022Asp	missense variant	-	NC_000011.10:g.46878979T>C	ESP,ExAC,TOPMed,gnomAD
RCV000730173	p.Asn1022Asp	missense variant	-	NC_000011.10:g.46878979T>C	ClinVar
RCV000361080	p.Asn1022Asp	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46878979T>C	ClinVar
RCV000551909	p.Asn1022Asp	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46878979T>C	ClinVar
rs201695857	p.Pro1023Ser	missense variant	-	NC_000011.10:g.46878976G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201695857	p.Pro1023Thr	missense variant	-	NC_000011.10:g.46878976G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1023Ala	missense variant	-	NC_000011.10:g.46878976G>C	NCI-TCGA
rs141565454	p.Gly1025Arg	missense variant	-	NC_000011.10:g.46878970C>G	ESP,ExAC,TOPMed,gnomAD
rs141565454	p.Gly1025Arg	missense variant	-	NC_000011.10:g.46878970C>T	ESP,ExAC,TOPMed,gnomAD
COSM5276875	p.Gly1025Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46878969C>T	NCI-TCGA Cosmic
rs760476180	p.Pro1031Thr	missense variant	-	NC_000011.10:g.46878952G>T	ExAC,gnomAD
rs775114362	p.Pro1031Leu	missense variant	-	NC_000011.10:g.46878951G>A	ExAC,gnomAD
rs1194108607	p.Ile1034Thr	missense variant	-	NC_000011.10:g.46878942A>G	gnomAD
rs767536610	p.Asn1035Ser	missense variant	-	NC_000011.10:g.46878939T>C	ExAC,TOPMed,gnomAD
rs1229972018	p.Thr1042Ser	missense variant	-	NC_000011.10:g.46878919T>A	TOPMed
rs759377523	p.Thr1042Ile	missense variant	-	NC_000011.10:g.46878918G>A	ExAC,TOPMed,gnomAD
rs1328422884	p.Pro1045Ser	missense variant	-	NC_000011.10:g.46878910G>A	TOPMed
rs773916703	p.Pro1045Arg	missense variant	-	NC_000011.10:g.46878909G>C	ExAC,gnomAD
rs747753710	p.Ser1049Arg	missense variant	-	NC_000011.10:g.46877331T>G	ExAC,gnomAD
rs1388507666	p.Ile1052Phe	missense variant	-	NC_000011.10:g.46877322T>A	gnomAD
rs1010986881	p.Ala1054Thr	missense variant	-	NC_000011.10:g.46877316C>T	TOPMed,gnomAD
rs747536043	p.Arg1056Gly	missense variant	-	NC_000011.10:g.46877310T>C	ExAC,gnomAD
rs1229285343	p.Ile1057Val	missense variant	-	NC_000011.10:g.46877307T>C	TOPMed
COSM282512	p.Arg1060Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46877298G>A	NCI-TCGA Cosmic
rs780663473	p.Met1061Leu	missense variant	-	NC_000011.10:g.46877295T>A	ExAC,TOPMed,gnomAD
rs780663473	p.Met1061Val	missense variant	-	NC_000011.10:g.46877295T>C	ExAC,TOPMed,gnomAD
rs772673278	p.Met1061Ile	missense variant	-	NC_000011.10:g.46877293C>T	ExAC,gnomAD
rs1163483037	p.Val1062Leu	missense variant	-	NC_000011.10:g.46877292C>G	gnomAD
rs376844404	p.Pro1067Ser	missense variant	-	NC_000011.10:g.46877277G>A	ESP,ExAC,TOPMed,gnomAD
rs376844404	p.Pro1067Thr	missense variant	-	NC_000011.10:g.46877277G>T	ESP,ExAC,TOPMed,gnomAD
rs1243006183	p.Pro1067Leu	missense variant	-	NC_000011.10:g.46877276G>A	gnomAD
NCI-TCGA novel	p.Ala1070Thr	missense variant	-	NC_000011.10:g.46877268C>T	NCI-TCGA
COSM1354013	p.Asp1071Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46877264T>A	NCI-TCGA Cosmic
rs781054708	p.Val1072Met	missense variant	-	NC_000011.10:g.46877262C>T	ExAC,gnomAD
rs766355288	p.Pro1075Gln	missense variant	-	NC_000011.10:g.46877252G>T	ExAC,gnomAD
rs1318172261	p.Ile1076Val	missense variant	-	NC_000011.10:g.46877250T>C	TOPMed
rs1280960378	p.Ile1078Val	missense variant	-	NC_000011.10:g.46877244T>C	gnomAD
rs1381410610	p.Thr1079Asn	missense variant	-	NC_000011.10:g.46877240G>T	gnomAD
NCI-TCGA novel	p.Thr1079ArgPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46877240_46877241insAGGTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCC	NCI-TCGA
rs1337307833	p.Met1080Val	missense variant	-	NC_000011.10:g.46877238T>C	TOPMed,gnomAD
rs1189815031	p.Met1080Lys	missense variant	-	NC_000011.10:g.46877237A>T	TOPMed
rs944566732	p.Lys1081Arg	missense variant	-	NC_000011.10:g.46877234T>C	TOPMed
rs1555172311	p.AlaIle1085AlaLeu	missense variant	-	NC_000011.10:g.46877220_46877221delinsGT	-
rs6485702	p.Ile1086Val	missense variant	-	NC_000011.10:g.46877220T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000592035	p.Ile1086Val	missense variant	-	NC_000011.10:g.46877220T>C	ClinVar
RCV000299043	p.Ile1086Val	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46877220T>C	ClinVar
RCV000530766	p.Ile1086Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46877220_46877221delinsGT	ClinVar
rs1190250171	p.Gly1087Glu	missense variant	-	NC_000011.10:g.46877216C>T	TOPMed,gnomAD
rs906337352	p.Gly1087Arg	missense variant	-	NC_000011.10:g.46877217C>T	TOPMed,gnomAD
rs764588435	p.Val1088Ala	missense variant	-	NC_000011.10:g.46877213A>G	ExAC,gnomAD
rs150616375	p.Asp1089Glu	missense variant	-	NC_000011.10:g.46877209G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs920291599	p.Pro1090Ser	missense variant	-	NC_000011.10:g.46877208G>A	TOPMed,gnomAD
rs1448962979	p.Gln1091Arg	missense variant	-	NC_000011.10:g.46877204T>C	TOPMed
NCI-TCGA novel	p.Val1095Ala	missense variant	-	NC_000011.10:g.46876824A>G	NCI-TCGA
rs1363796018	p.Trp1097Arg	missense variant	-	NC_000011.10:g.46876819A>G	gnomAD
rs368653860	p.Ser1098Thr	missense variant	-	NC_000011.10:g.46876816A>T	ESP,ExAC,TOPMed,gnomAD
rs1251157853	p.Asp1099Glu	missense variant	-	NC_000011.10:g.46876811G>C	TOPMed
rs1403299399	p.Leu1102Gln	missense variant	-	NC_000011.10:g.46876803A>T	gnomAD
NCI-TCGA novel	p.Leu1102Pro	missense variant	-	NC_000011.10:g.46876803A>G	NCI-TCGA
rs1365174980	p.His1103Gln	missense variant	-	NC_000011.10:g.46876799G>C	TOPMed,gnomAD
rs774672727	p.His1103Leu	missense variant	-	NC_000011.10:g.46876800T>A	ExAC,gnomAD
rs1194163134	p.Arg1104Gly	missense variant	-	NC_000011.10:g.46876798T>C	TOPMed
COSM927333	p.Arg1104Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876797C>A	NCI-TCGA Cosmic
rs750691101	p.Arg1107Leu	missense variant	-	NC_000011.10:g.46876788C>A	ExAC,TOPMed,gnomAD
rs1304002489	p.Arg1107Cys	missense variant	-	NC_000011.10:g.46876789G>A	gnomAD
rs750691101	p.Arg1107His	missense variant	-	NC_000011.10:g.46876788C>T	ExAC,TOPMed,gnomAD
rs773329789	p.Asn1109Ser	missense variant	-	NC_000011.10:g.46876782T>C	ExAC,TOPMed,gnomAD
rs748305507	p.Asp1111Gly	missense variant	-	NC_000011.10:g.46876776T>C	ExAC,gnomAD
rs770071302	p.Asp1111Asn	missense variant	-	NC_000011.10:g.46876777C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1112Cys	missense variant	-	NC_000011.10:g.46876774C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1112Val	missense variant	-	NC_000011.10:g.46876773C>A	NCI-TCGA
rs561858345	p.Ser1113Leu	missense variant	-	NC_000011.10:g.46876770G>A	gnomAD
rs779840842	p.Gln1114Arg	missense variant	-	NC_000011.10:g.46876767T>C	ExAC,gnomAD
rs779840842	p.Gln1114Leu	missense variant	-	NC_000011.10:g.46876767T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln1114His	missense variant	-	NC_000011.10:g.46876766C>A	NCI-TCGA
rs758144252	p.His1115Arg	missense variant	-	NC_000011.10:g.46876764T>C	ExAC,TOPMed,gnomAD
rs745844140	p.His1115Gln	missense variant	-	NC_000011.10:g.46876763A>T	ExAC,TOPMed,gnomAD
rs1479367410	p.Asp1117Asn	missense variant	-	NC_000011.10:g.46876759C>T	TOPMed,gnomAD
COSM429043	p.Thr1121Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876747T>C	NCI-TCGA Cosmic
rs766854343	p.Gly1122Ala	missense variant	-	NC_000011.10:g.46876637C>G	ExAC,gnomAD
COSM3447718	p.Gly1122Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876744C>T	NCI-TCGA Cosmic
rs763514608	p.Leu1123Ile	missense variant	-	NC_000011.10:g.46876635G>T	ExAC,gnomAD
rs773282442	p.Leu1123Pro	missense variant	-	NC_000011.10:g.46876634A>G	ExAC,gnomAD
rs776789609	p.Leu1129Phe	missense variant	-	NC_000011.10:g.46876617G>A	ExAC,gnomAD
rs138418874	p.Ala1130Val	missense variant	-	NC_000011.10:g.46876613G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142904009	p.Ala1130Thr	missense variant	-	NC_000011.10:g.46876614C>T	ESP,ExAC,TOPMed,gnomAD
rs1379218758	p.Asp1132Gly	missense variant	-	NC_000011.10:g.46876607T>C	gnomAD
rs1452628718	p.Ile1134Thr	missense variant	-	NC_000011.10:g.46876601A>G	gnomAD
rs377670993	p.Gly1135Ala	missense variant	-	NC_000011.10:g.46876598C>G	ESP,ExAC,gnomAD
RCV000643985	p.Arg1136Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46876595C>T	ClinVar
rs61736853	p.Arg1136Gln	missense variant	-	NC_000011.10:g.46876595C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777439267	p.Arg1136Trp	missense variant	-	NC_000011.10:g.46876596G>A	ExAC,TOPMed,gnomAD
RCV000329322	p.Arg1136Gln	missense variant	-	NC_000011.10:g.46876595C>T	ClinVar
rs767327311	p.Asp1142Tyr	missense variant	-	NC_000011.10:g.46876578C>A	ExAC,TOPMed,gnomAD
rs767327311	p.Asp1142Asn	missense variant	-	NC_000011.10:g.46876578C>T	ExAC,TOPMed,gnomAD
rs200272958	p.Asp1142Glu	missense variant	-	NC_000011.10:g.46876576G>T	1000Genomes,ExAC,gnomAD
rs751933622	p.Thr1143Met	missense variant	-	NC_000011.10:g.46876574G>A	ExAC,TOPMed,gnomAD
RCV000643984	p.Thr1143Met	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46876574G>A	ClinVar
rs763380383	p.Arg1147Gly	missense variant	-	NC_000011.10:g.46876563G>C	ExAC,gnomAD
rs1485430856	p.Arg1147Gln	missense variant	-	NC_000011.10:g.46876562C>T	gnomAD
rs1239897544	p.Val1150Gly	missense variant	-	NC_000011.10:g.46876553A>C	TOPMed
rs370497551	p.Gly1151Asp	missense variant	-	NC_000011.10:g.46876550C>T	ESP,ExAC,TOPMed,gnomAD
rs761925202	p.Asn1152Ile	missense variant	-	NC_000011.10:g.46876547T>A	ExAC,TOPMed,gnomAD
rs765327905	p.Asn1152Asp	missense variant	-	NC_000011.10:g.46876548T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1152His	missense variant	-	NC_000011.10:g.46876548T>G	NCI-TCGA
COSM6132725	p.Gly1155Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876539C>A	NCI-TCGA Cosmic
rs774023864	p.Ser1156Phe	missense variant	-	NC_000011.10:g.46876535G>A	ExAC,gnomAD
rs1289082348	p.Met1157Thr	missense variant	-	NC_000011.10:g.46876532A>G	gnomAD
rs770703872	p.Met1157Val	missense variant	-	NC_000011.10:g.46876533T>C	ExAC,gnomAD
RCV000338690	p.Arg1158Trp	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46876530G>A	ClinVar
rs886048351	p.Arg1158Trp	missense variant	-	NC_000011.10:g.46876530G>A	TOPMed,gnomAD
rs886048351	p.Arg1158Gly	missense variant	-	NC_000011.10:g.46876530G>C	TOPMed,gnomAD
rs150306458	p.Arg1158Gln	missense variant	-	NC_000011.10:g.46876529C>T	ESP,ExAC,TOPMed,gnomAD
rs777813275	p.Lys1159Glu	missense variant	-	NC_000011.10:g.46876527T>C	ExAC,gnomAD
rs899058515	p.Val1160Leu	missense variant	-	NC_000011.10:g.46876524C>G	TOPMed
rs1183373620	p.Asn1165Ile	missense variant	-	NC_000011.10:g.46876508T>A	TOPMed
rs769832658	p.Ser1168Thr	missense variant	-	NC_000011.10:g.46876499C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1169Ser	missense variant	-	NC_000011.10:g.46876497G>A	NCI-TCGA
NCI-TCGA novel	p.Pro1169Leu	missense variant	-	NC_000011.10:g.46876496G>A	NCI-TCGA
rs387906884	p.Arg1170Trp	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46876494G>A	ExAC,gnomAD
rs387906884	p.Arg1170Trp	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46876494G>A	UniProt,dbSNP
VAR_066630	p.Arg1170Trp	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46876494G>A	UniProt
rs1190944217	p.Arg1170Gln	missense variant	-	NC_000011.10:g.46876493C>T	TOPMed,gnomAD
RCV000023364	p.Arg1170Trp	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46876494G>A	ClinVar
rs1332936896	p.Ala1171Asp	missense variant	-	NC_000011.10:g.46876490G>T	gnomAD
rs1332936896	p.Ala1171Val	missense variant	-	NC_000011.10:g.46876490G>A	gnomAD
rs1262243208	p.Val1173Ile	missense variant	-	NC_000011.10:g.46876485C>T	gnomAD
rs372601314	p.Leu1174Pro	missense variant	-	NC_000011.10:g.46876481A>G	ESP
rs1289900412	p.Glu1177Asp	missense variant	-	NC_000011.10:g.46876471C>G	TOPMed,gnomAD
rs780301972	p.Met1178Thr	missense variant	-	NC_000011.10:g.46876469A>G	ExAC,TOPMed,gnomAD
rs758745715	p.Met1178Ile	missense variant	-	NC_000011.10:g.46876468C>T	ExAC,gnomAD
rs759832962	p.Trp1183Arg	missense variant	-	NC_000011.10:g.46875956A>G	ExAC,gnomAD
COSM5704013	p.Trp1183Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875955C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr1184Ala	missense variant	-	NC_000011.10:g.46875953T>C	NCI-TCGA
rs1189743163	p.Asp1185Glu	missense variant	-	NC_000011.10:g.46875948G>C	TOPMed
rs773144048	p.Trp1186Arg	missense variant	-	NC_000011.10:g.46875947A>T	ExAC
rs1239248668	p.Trp1186Ter	stop gained	-	NC_000011.10:g.46875945C>T	TOPMed,gnomAD
rs387906883	p.Trp1186Ser	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>G	ExAC,TOPMed,gnomAD
rs387906883	p.Trp1186Ser	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46875946C>G	UniProt,dbSNP
VAR_066631	p.Trp1186Ser	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46875946C>G	UniProt
rs387906883	p.Trp1186Ter	stop gained	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>T	ExAC,TOPMed,gnomAD
rs387906883	p.Trp1186Leu	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>A	ExAC,TOPMed,gnomAD
rs1239248668	p.Trp1186Cys	missense variant	-	NC_000011.10:g.46875945C>A	TOPMed,gnomAD
RCV000800068	p.Trp1186Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875946C>G	ClinVar
rs1201145181	p.Gly1187Arg	missense variant	-	NC_000011.10:g.46875944C>T	gnomAD
rs776588305	p.Glu1188Lys	missense variant	-	NC_000011.10:g.46875941C>T	ExAC,TOPMed,gnomAD
rs764342618	p.Glu1188ArgPheSerTerUnk	frameshift	-	NC_000011.10:g.46875941C>-	NCI-TCGA
rs1479504434	p.Asn1189Asp	missense variant	-	NC_000011.10:g.46875938T>C	TOPMed,gnomAD
rs768443059	p.Glu1193Gln	missense variant	-	NC_000011.10:g.46875926C>G	ExAC,TOPMed,gnomAD
rs369916883	p.Arg1194Gln	missense variant	-	NC_000011.10:g.46875922C>T	ESP,ExAC,TOPMed,gnomAD
rs746573834	p.Arg1194Trp	missense variant	-	NC_000011.10:g.46875923G>A	ExAC,TOPMed,gnomAD
rs1315102279	p.Ser1195Tyr	missense variant	-	NC_000011.10:g.46875919G>T	TOPMed
rs746464834	p.Gly1196Glu	missense variant	-	NC_000011.10:g.46875916C>T	ExAC,TOPMed,gnomAD
rs745459741	p.Gly1196Arg	missense variant	-	NC_000011.10:g.46875917C>T	ExAC,TOPMed,gnomAD
rs1250023334	p.Met1197Val	missense variant	-	NC_000011.10:g.46875914T>C	TOPMed,gnomAD
rs1250023334	p.Met1197Leu	missense variant	-	NC_000011.10:g.46875914T>A	TOPMed,gnomAD
rs749792822	p.Ser1200Leu	missense variant	-	NC_000011.10:g.46875904G>A	ExAC,TOPMed,gnomAD
rs1427457745	p.Asp1201Glu	missense variant	-	NC_000011.10:g.46875900G>T	TOPMed,gnomAD
rs778385797	p.Arg1202His	missense variant	-	NC_000011.10:g.46875898C>T	ExAC,TOPMed,gnomAD
rs1460217409	p.Arg1202Cys	missense variant	-	NC_000011.10:g.46875899G>A	-
rs2306033	p.Ala1203Val	missense variant	-	NC_000011.10:g.46875895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2306033	p.Ala1203Val	missense variant	-	NC_000011.10:g.46875895G>A	UniProt,dbSNP
VAR_058291	p.Ala1203Val	missense variant	-	NC_000011.10:g.46875895G>A	UniProt
rs752888601	p.Ala1203Thr	missense variant	-	NC_000011.10:g.46875896C>T	ExAC,gnomAD
RCV000300095	p.Ala1203Val	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875895G>A	ClinVar
NCI-TCGA novel	p.Val1204Met	missense variant	-	NC_000011.10:g.46875893C>T	NCI-TCGA
rs1243100512	p.Ile1206Val	missense variant	-	NC_000011.10:g.46875887T>C	gnomAD
rs1243100512	p.Ile1206Leu	missense variant	-	NC_000011.10:g.46875887T>G	gnomAD
rs151234321	p.Asn1207Ser	missense variant	-	NC_000011.10:g.46875883T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000393021	p.Asn1207Ser	missense variant	-	NC_000011.10:g.46875883T>C	ClinVar
RCV000394052	p.Asn1207Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875883T>C	ClinVar
NCI-TCGA novel	p.Asn1208Thr	missense variant	-	NC_000011.10:g.46875880T>G	NCI-TCGA
rs746377167	p.Gly1215Arg	missense variant	-	NC_000011.10:g.46875860C>T	ExAC,TOPMed,gnomAD
COSM3447717	p.Gly1215Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875859C>T	NCI-TCGA Cosmic
rs1204251465	p.Thr1217Ile	missense variant	-	NC_000011.10:g.46875853G>A	gnomAD
rs1233561496	p.Val1218Met	missense variant	-	NC_000011.10:g.46875851C>T	TOPMed
rs1353784935	p.Ala1221Asp	missense variant	-	NC_000011.10:g.46875841G>T	gnomAD
rs761736564	p.Ser1222Thr	missense variant	-	NC_000011.10:g.46875838C>G	ExAC,TOPMed,gnomAD
rs761736564	p.Ser1222Asn	missense variant	-	NC_000011.10:g.46875838C>T	ExAC,TOPMed,gnomAD
rs1243641330	p.Gln1224Pro	missense variant	-	NC_000011.10:g.46875832T>G	gnomAD
COSM3986185	p.Gln1224Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46875833G>A	NCI-TCGA Cosmic
rs760528582	p.Asp1229Asn	missense variant	-	NC_000011.10:g.46875818C>T	ExAC,gnomAD
rs1400391311	p.Ala1230Val	missense variant	-	NC_000011.10:g.46875814G>A	gnomAD
rs775073094	p.Ala1230Thr	missense variant	-	NC_000011.10:g.46875815C>T	ExAC,TOPMed,gnomAD
rs1454832687	p.His1231Tyr	missense variant	-	NC_000011.10:g.46875812G>A	TOPMed
rs1361208305	p.Thr1232Ser	missense variant	-	NC_000011.10:g.46875808G>C	gnomAD
RCV000170320	p.Glu1233Lys	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875806C>T	ClinVar
rs786205153	p.Glu1233Lys	missense variant	-	NC_000011.10:g.46875806C>T	TOPMed
rs142130999	p.Arg1234Gly	missense variant	-	NC_000011.10:g.46875681G>C	ESP,ExAC,TOPMed,gnomAD
rs754092006	p.Arg1234Gln	missense variant	-	NC_000011.10:g.46875680C>T	ExAC,TOPMed,gnomAD
rs142130999	p.Arg1234Ter	stop gained	-	NC_000011.10:g.46875681G>A	ESP,ExAC,TOPMed,gnomAD
rs748719669	p.Ala1237Ser	missense variant	-	NC_000011.10:g.46875672C>A	ExAC,TOPMed,gnomAD
RCV000296675	p.Ala1237Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875672C>A	ClinVar
rs2306031	p.Ala1238Thr	missense variant	-	NC_000011.10:g.46875669C>T	-
rs2306031	p.Ala1238Thr	missense variant	-	NC_000011.10:g.46875669C>T	UniProt,dbSNP
VAR_058292	p.Ala1238Thr	missense variant	-	NC_000011.10:g.46875669C>T	UniProt
COSM6132726	p.Ala1238Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875668G>A	NCI-TCGA Cosmic
rs769260734	p.Asn1241Ser	missense variant	-	NC_000011.10:g.46875659T>C	ExAC,gnomAD
rs1057518573	p.AlaAsn1243AlaTyr	missense variant	-	NC_000011.10:g.46875651_46875652delinsAA	-
rs376299085	p.Asn1244Ser	missense variant	-	NC_000011.10:g.46875650T>C	ESP,ExAC,TOPMed,gnomAD
RCV000412842	p.Asn1244Tyr	missense variant	-	NC_000011.10:g.46875651_46875652delinsAA	ClinVar
rs147619901	p.Arg1245Gln	missense variant	-	NC_000011.10:g.46875647C>T	ESP,TOPMed,gnomAD
rs1170599024	p.His1246Tyr	missense variant	-	NC_000011.10:g.46875645G>A	gnomAD
NCI-TCGA novel	p.His1246Asn	missense variant	-	NC_000011.10:g.46875645G>T	NCI-TCGA
rs780281062	p.Thr1247Ile	missense variant	-	NC_000011.10:g.46875641G>A	ExAC,gnomAD
rs758655693	p.Leu1248Trp	missense variant	-	NC_000011.10:g.46875638A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1248Met	missense variant	-	NC_000011.10:g.46875639A>T	NCI-TCGA
RCV000402952	p.Pro1251Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875629G>A	ClinVar
rs145422541	p.Pro1251Leu	missense variant	-	NC_000011.10:g.46875629G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1251Gln	missense variant	-	NC_000011.10:g.46875629G>T	NCI-TCGA
rs1479377873	p.His1254Tyr	missense variant	-	NC_000011.10:g.46875621G>A	gnomAD
rs1217935242	p.Pro1255Thr	missense variant	-	NC_000011.10:g.46875618G>T	TOPMed
rs759457869	p.Tyr1256Cys	missense variant	-	NC_000011.10:g.46875614T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly1257Asp	missense variant	-	NC_000011.10:g.46875611C>T	NCI-TCGA
rs765748906	p.Leu1261Phe	missense variant	-	NC_000011.10:g.46875600G>A	ExAC,gnomAD
rs1302274071	p.Asp1262Ala	missense variant	-	NC_000011.10:g.46875596T>G	gnomAD
rs762687512	p.Asp1262Asn	missense variant	-	NC_000011.10:g.46875597C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1264Ser	missense variant	-	NC_000011.10:g.46875590T>G	NCI-TCGA
rs145703467	p.Ile1265Val	missense variant	-	NC_000011.10:g.46875588T>C	ESP,ExAC,gnomAD
COSM269518	p.Thr1268Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875579T>C	NCI-TCGA Cosmic
rs1331244003	p.Asp1269Asn	missense variant	-	NC_000011.10:g.46875576C>T	gnomAD
NCI-TCGA novel	p.Asp1269ThrPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46875576C>-	NCI-TCGA
rs762130726	p.Trp1270Arg	missense variant	-	NC_000011.10:g.46875573A>T	ExAC,gnomAD
rs1335091986	p.Thr1272Ala	missense variant	-	NC_000011.10:g.46875567T>C	gnomAD
rs61746928	p.Arg1273Trp	missense variant	-	NC_000011.10:g.46875564G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000345358	p.Arg1273Pro	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875563C>G	ClinVar
rs747456405	p.Arg1273Pro	missense variant	-	NC_000011.10:g.46875563C>G	ExAC,gnomAD
rs747456405	p.Arg1273Gln	missense variant	-	NC_000011.10:g.46875563C>T	ExAC,gnomAD
rs746136135	p.Arg1277His	missense variant	-	NC_000011.10:g.46875551C>T	ExAC,TOPMed,gnomAD
rs746136135	p.Arg1277His	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875551C>T	UniProt,dbSNP
VAR_073696	p.Arg1277His	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875551C>T	UniProt
rs1379220217	p.Arg1277Cys	missense variant	-	NC_000011.10:g.46875552G>A	gnomAD
RCV000170321	p.Arg1277His	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875551C>T	ClinVar
NCI-TCGA novel	p.Asp1279Asn	missense variant	-	NC_000011.10:g.46875546C>T	NCI-TCGA
rs371205300	p.Lys1280Arg	missense variant	-	NC_000011.10:g.46875542T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1280Asn	missense variant	-	NC_000011.10:g.46875541C>A	NCI-TCGA
rs757480962	p.Gly1281Ala	missense variant	-	NC_000011.10:g.46875539C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1281Ser	missense variant	-	NC_000011.10:g.46875540C>T	NCI-TCGA
rs780961481	p.Thr1282Pro	missense variant	-	NC_000011.10:g.46875537T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1283Asp	missense variant	-	NC_000011.10:g.46875533C>T	NCI-TCGA
rs754921317	p.Ser1284Asn	missense variant	-	NC_000011.10:g.46875530C>T	ExAC,gnomAD
rs1193536138	p.Asn1285Ser	missense variant	-	NC_000011.10:g.46875527T>C	TOPMed
rs756641717	p.Val1289Met	missense variant	-	NC_000011.10:g.46875516C>T	ExAC,gnomAD
rs1403441683	p.Arg1290Ser	missense variant	-	NC_000011.10:g.46875511C>A	gnomAD
rs1313564880	p.Arg1290Trp	missense variant	-	NC_000011.10:g.46875513T>A	gnomAD
rs1395738205	p.Arg1290Met	missense variant	-	NC_000011.10:g.46875512C>A	gnomAD
rs1462578412	p.Ser1291Phe	missense variant	-	NC_000011.10:g.46875509G>A	TOPMed
NCI-TCGA novel	p.Ser1291Cys	missense variant	-	NC_000011.10:g.46875509G>C	NCI-TCGA
COSM3782629	p.Asn1292His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875507T>G	NCI-TCGA Cosmic
rs764853604	p.Met1299Val	missense variant	-	NC_000011.10:g.46875486T>C	ExAC,TOPMed,gnomAD
rs764853604	p.Met1299Leu	missense variant	-	NC_000011.10:g.46875486T>G	ExAC,TOPMed,gnomAD
rs1158682210	p.Val1302Leu	missense variant	-	NC_000011.10:g.46875477C>G	gnomAD
rs777142871	p.Asp1303Ala	missense variant	-	NC_000011.10:g.46875473T>G	ExAC,gnomAD
COSM1475459	p.Asp1303His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875474C>G	NCI-TCGA Cosmic
rs764499559	p.Arg1304Trp	missense variant	-	NC_000011.10:g.46875471G>A	ExAC,TOPMed,gnomAD
rs139692226	p.Arg1304Gln	missense variant	-	NC_000011.10:g.46875470C>T	ESP,gnomAD
rs139692226	p.Arg1304Leu	missense variant	-	NC_000011.10:g.46875470C>A	ESP,gnomAD
rs761288952	p.Ala1305Pro	missense variant	-	NC_000011.10:g.46875468C>G	ExAC,gnomAD
rs772602277	p.Gln1306Ter	stop gained	-	NC_000011.10:g.46875465G>A	ExAC,gnomAD
rs771126504	p.Pro1307Ala	missense variant	-	NC_000011.10:g.46875462G>C	ExAC,TOPMed,gnomAD
RCV000529893	p.Pro1307Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875462G>A	ClinVar
rs771126504	p.Pro1307Ser	missense variant	-	NC_000011.10:g.46875462G>A	ExAC,TOPMed,gnomAD
rs1029116192	p.Gly1309Asp	missense variant	-	NC_000011.10:g.46875103C>T	TOPMed
NCI-TCGA novel	p.Phe1310Val	missense variant	-	NC_000011.10:g.46875101A>C	NCI-TCGA
rs769980815	p.Lys1312Glu	missense variant	-	NC_000011.10:g.46875095T>C	ExAC,gnomAD
rs779892727	p.Cys1313Ter	stop gained	-	NC_000011.10:g.46875090G>T	ExAC,TOPMed,gnomAD
rs371961330	p.Gly1314Ser	missense variant	-	NC_000011.10:g.46875089C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150681693	p.Ser1315Leu	missense variant	-	NC_000011.10:g.46875085G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000288021	p.Ser1315Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875085G>A	ClinVar
RCV000734104	p.Ser1315Leu	missense variant	-	NC_000011.10:g.46875085G>A	ClinVar
NCI-TCGA novel	p.Arg1316Ile	missense variant	-	NC_000011.10:g.46875082C>A	NCI-TCGA
rs756790038	p.Gly1319Cys	missense variant	-	NC_000011.10:g.46875074C>A	ExAC,gnomAD
rs891590824	p.Cys1320Tyr	missense variant	-	NC_000011.10:g.46875070C>T	-
NCI-TCGA novel	p.Ser1321Phe	missense variant	-	NC_000011.10:g.46875067G>A	NCI-TCGA
rs755817415	p.His1322Arg	missense variant	-	NC_000011.10:g.46875064T>C	ExAC,TOPMed,gnomAD
rs755817415	p.His1322Pro	missense variant	-	NC_000011.10:g.46875064T>G	ExAC,TOPMed,gnomAD
rs777618895	p.His1322Tyr	missense variant	-	NC_000011.10:g.46875065G>A	ExAC,TOPMed,gnomAD
rs1457579879	p.Leu1323Pro	missense variant	-	NC_000011.10:g.46875061A>G	gnomAD
rs1390699442	p.Leu1325Phe	missense variant	-	NC_000011.10:g.46875054C>G	TOPMed,gnomAD
rs146372809	p.Arg1327Gln	missense variant	-	NC_000011.10:g.46875049C>T	ESP,ExAC,TOPMed,gnomAD
RCV000176868	p.Arg1327Gln	missense variant	-	NC_000011.10:g.46875049C>T	ClinVar
rs1259154546	p.Arg1327Trp	missense variant	-	NC_000011.10:g.46875050G>A	TOPMed,gnomAD
COSM4033107	p.Pro1328Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875047G>A	NCI-TCGA Cosmic
rs1320912124	p.Gly1330Asp	missense variant	-	NC_000011.10:g.46875040C>T	gnomAD
rs529045089	p.Cys1333Ser	missense variant	-	NC_000011.10:g.46875031C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs529045089	p.Cys1333Tyr	missense variant	-	NC_000011.10:g.46875031C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1398167777	p.Thr1337Ala	missense variant	-	NC_000011.10:g.46875020T>C	TOPMed
rs1453134036	p.Gly1338Asp	missense variant	-	NC_000011.10:g.46875016C>T	TOPMed,gnomAD
rs763069536	p.Leu1341Met	missense variant	-	NC_000011.10:g.46875008G>T	ExAC,TOPMed,gnomAD
rs142439915	p.Gly1343Ala	missense variant	-	NC_000011.10:g.46875001C>G	ESP,ExAC,TOPMed,gnomAD
rs142439915	p.Gly1343Glu	missense variant	-	NC_000011.10:g.46875001C>T	ESP,ExAC,TOPMed,gnomAD
rs561064187	p.Gly1345Glu	missense variant	-	NC_000011.10:g.46874995C>T	1000Genomes,ExAC,gnomAD
rs1400266967	p.Asp1349Gly	missense variant	-	NC_000011.10:g.46874983T>C	gnomAD
rs1172217709	p.Pro1352Ser	missense variant	-	NC_000011.10:g.46874975G>A	gnomAD
rs1478395386	p.Thr1354Ser	missense variant	-	NC_000011.10:g.46874969T>A	gnomAD
RCV000598050	p.Ser1359Thr	missense variant	-	NC_000011.10:g.46874954A>T	ClinVar
rs775159238	p.Ser1359Thr	missense variant	-	NC_000011.10:g.46874954A>T	ExAC,TOPMed,gnomAD
rs779038341	p.Arg1361His	missense variant	-	NC_000011.10:g.46874947C>T	ExAC,TOPMed,gnomAD
rs745826848	p.Arg1361Gly	missense variant	-	NC_000011.10:g.46874948G>C	ExAC,gnomAD
rs745826848	p.Arg1361Cys	missense variant	-	NC_000011.10:g.46874948G>A	ExAC,gnomAD
rs1167183839	p.Gly1362Ser	missense variant	-	NC_000011.10:g.46874945C>T	gnomAD
rs200936217	p.Arg1365Trp	missense variant	-	NC_000011.10:g.46874936G>A	1000Genomes,TOPMed,gnomAD
rs770974209	p.Arg1365Gln	missense variant	-	NC_000011.10:g.46874935C>T	ExAC,TOPMed,gnomAD
rs777417258	p.Arg1366His	missense variant	-	NC_000011.10:g.46874932C>T	ExAC,gnomAD
rs148018749	p.Arg1366Cys	missense variant	-	NC_000011.10:g.46874933G>A	ESP,ExAC,TOPMed,gnomAD
rs1274692798	p.Ile1367Met	missense variant	-	NC_000011.10:g.46874928G>C	TOPMed
RCV000687542	p.Ser1368Pro	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46874927A>G	ClinVar
rs1466671098	p.Leu1369Met	missense variant	-	NC_000011.10:g.46874924G>T	gnomAD
rs564922097	p.Asp1373Glu	missense variant	-	NC_000011.10:g.46874910G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs752338560	p.Asp1373Gly	missense variant	-	NC_000011.10:g.46874911T>C	ExAC,TOPMed,gnomAD
rs755409076	p.Thr1375Ser	missense variant	-	NC_000011.10:g.46874906T>A	ExAC,gnomAD
rs1339727277	p.Thr1375Ile	missense variant	-	NC_000011.10:g.46874905G>A	gnomAD
rs545724648	p.Asp1376Asn	missense variant	-	NC_000011.10:g.46874903C>T	1000Genomes,ExAC,gnomAD
rs763442262	p.His1378Gln	missense variant	-	NC_000011.10:g.46874895A>T	ExAC,TOPMed,gnomAD
rs766928334	p.His1378Pro	missense variant	-	NC_000011.10:g.46874896T>G	ExAC,gnomAD
rs765240067	p.Pro1382Ser	missense variant	-	NC_000011.10:g.46874885G>A	ExAC,TOPMed,gnomAD
rs765240067	p.Pro1382Ala	missense variant	-	NC_000011.10:g.46874885G>C	ExAC,TOPMed,gnomAD
rs202151304	p.Glu1383Ala	missense variant	-	NC_000011.10:g.46874881T>G	ExAC,TOPMed,gnomAD
rs202151304	p.Glu1383Gly	missense variant	-	NC_000011.10:g.46874881T>C	ExAC,TOPMed,gnomAD
rs768733310	p.Asn1385Ser	missense variant	-	NC_000011.10:g.46874875T>C	ExAC,TOPMed,gnomAD
rs1293379752	p.Asn1386Ser	missense variant	-	NC_000011.10:g.46874872T>C	TOPMed
rs1237313579	p.Val1387Ala	missense variant	-	NC_000011.10:g.46874869A>G	gnomAD
rs774275092	p.Val1395Met	missense variant	-	NC_000011.10:g.46874846C>T	ExAC,TOPMed,gnomAD
rs1283472991	p.Asp1396His	missense variant	-	NC_000011.10:g.46874843C>G	gnomAD
rs1283472991	p.Asp1396Asn	missense variant	-	NC_000011.10:g.46874843C>T	gnomAD
rs1353805030	p.Val1399Ile	missense variant	-	NC_000011.10:g.46874834C>T	gnomAD
rs1288073643	p.Tyr1400Cys	missense variant	-	NC_000011.10:g.46874830T>C	gnomAD
rs749173410	p.Thr1402Arg	missense variant	-	NC_000011.10:g.46874824G>C	ExAC,gnomAD
rs777440860	p.Val1404Leu	missense variant	-	NC_000011.10:g.46874819C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1407Asn	missense variant	-	NC_000011.10:g.46874810C>T	NCI-TCGA
rs777975583	p.Val1408Ile	missense variant	-	NC_000011.10:g.46874807C>T	ExAC,gnomAD
COSM4822521	p.Ile1409Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46874802G>C	NCI-TCGA Cosmic
rs1398452708	p.Arg1410Ser	missense variant	-	NC_000011.10:g.46873593C>G	TOPMed
rs963817724	p.Arg1411Gln	missense variant	-	NC_000011.10:g.46873591C>T	TOPMed
rs1276522994	p.Arg1411Ter	stop gained	-	NC_000011.10:g.46873592G>A	gnomAD
rs768356381	p.Asp1413Glu	missense variant	-	NC_000011.10:g.46873584G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1413Tyr	missense variant	-	NC_000011.10:g.46873586C>A	NCI-TCGA
rs780415835	p.Gly1416Ser	missense variant	-	NC_000011.10:g.46873577C>T	ExAC,gnomAD
rs758719937	p.Ser1417Asn	missense variant	-	NC_000011.10:g.46873573C>T	ExAC,TOPMed,gnomAD
rs1324792400	p.Asn1418Ser	missense variant	-	NC_000011.10:g.46873570T>C	gnomAD
rs1382927455	p.Met1419Thr	missense variant	-	NC_000011.10:g.46873567A>G	gnomAD
rs757695501	p.Met1419Ile	missense variant	-	NC_000011.10:g.46873566C>T	ExAC,gnomAD
rs779526693	p.Met1419Val	missense variant	-	NC_000011.10:g.46873568T>C	ExAC,TOPMed,gnomAD
rs754016931	p.Glu1420Lys	missense variant	-	NC_000011.10:g.46873565C>T	ExAC,gnomAD
rs1026948492	p.Gly1424Arg	missense variant	-	NC_000011.10:g.46873553C>T	TOPMed,gnomAD
rs1306624878	p.Gly1424Glu	missense variant	-	NC_000011.10:g.46873552C>T	TOPMed
COSM3986184	p.Gly1424Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873553C>G	NCI-TCGA Cosmic
RCV000794293	p.Arg1425Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873549C>T	ClinVar
rs143444937	p.Arg1425Gln	missense variant	-	NC_000011.10:g.46873549C>T	ESP,ExAC,TOPMed,gnomAD
RCV000327975	p.Arg1425Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873549C>T	ClinVar
rs1247207663	p.Arg1425Ter	stop gained	-	NC_000011.10:g.46873550G>A	gnomAD
COSM4033105	p.Leu1433Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873526G>T	NCI-TCGA Cosmic
rs149232762	p.Trp1437Ser	missense variant	-	NC_000011.10:g.46873513C>G	ESP,ExAC,gnomAD
RCV000376983	p.Asn1441Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873501T>C	ClinVar
rs886048350	p.Asn1441Ser	missense variant	-	NC_000011.10:g.46873501T>C	gnomAD
rs761584807	p.Leu1442Val	missense variant	-	NC_000011.10:g.46873499G>C	ExAC,gnomAD
rs1023291119	p.Arg1449Gln	missense variant	-	NC_000011.10:g.46873477C>T	TOPMed,gnomAD
rs1023291119	p.Arg1449Leu	missense variant	-	NC_000011.10:g.46873477C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1449Ter	stop gained	-	NC_000011.10:g.46873478G>A	NCI-TCGA
rs1331039955	p.Asn1450Asp	missense variant	-	NC_000011.10:g.46873475T>C	TOPMed,gnomAD
rs771361350	p.Asn1450Ser	missense variant	-	NC_000011.10:g.46873474T>C	gnomAD
rs1259111564	p.Thr1451Ile	missense variant	-	NC_000011.10:g.46873471G>A	gnomAD
rs746692504	p.Ala1454Val	missense variant	-	NC_000011.10:g.46873462G>A	ExAC,gnomAD
rs571418643	p.Leu1457Val	missense variant	-	NC_000011.10:g.46873454G>C	1000Genomes,ExAC,gnomAD
rs771474604	p.Asp1458Gly	missense variant	-	NC_000011.10:g.46873450T>C	ExAC,gnomAD
rs61738061	p.Ser1460Phe	missense variant	-	NC_000011.10:g.46873444G>A	ESP,ExAC,TOPMed,gnomAD
rs1237519566	p.Arg1462Cys	missense variant	-	NC_000011.10:g.46873439G>A	TOPMed,gnomAD
rs777932389	p.Arg1462His	missense variant	-	NC_000011.10:g.46873438C>T	ExAC,TOPMed,gnomAD
rs756223904	p.Lys1463Arg	missense variant	-	NC_000011.10:g.46873435T>C	ExAC,gnomAD
rs1253293777	p.Val1464Ala	missense variant	-	NC_000011.10:g.46873432A>G	gnomAD
rs1208354844	p.Ile1466Phe	missense variant	-	NC_000011.10:g.46873427T>A	gnomAD
rs1311656499	p.Ile1466Thr	missense variant	-	NC_000011.10:g.46873426A>G	gnomAD
rs886048349	p.Asn1467Ser	missense variant	-	NC_000011.10:g.46873423T>C	gnomAD
RCV000324709	p.Asn1467Ser	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873423T>C	ClinVar
rs1375253617	p.Ser1469Asn	missense variant	-	NC_000011.10:g.46873417C>T	TOPMed,gnomAD
rs755247209	p.Arg1474Trp	missense variant	-	NC_000011.10:g.46873403G>A	ExAC,TOPMed,gnomAD
rs750236429	p.Arg1474Gln	missense variant	-	NC_000011.10:g.46873402C>T	ExAC,gnomAD
rs1314468807	p.Ala1475Gly	missense variant	-	NC_000011.10:g.46873399G>C	TOPMed
COSM429041	p.Ala1475Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873400C>T	NCI-TCGA Cosmic
rs764880010	p.Val1478Leu	missense variant	-	NC_000011.10:g.46873391C>G	ExAC
rs761829277	p.Pro1480Ser	missense variant	-	NC_000011.10:g.46873385G>A	ExAC,gnomAD
rs1174922081	p.Arg1481Lys	missense variant	-	NC_000011.10:g.46873381C>T	gnomAD
rs764059292	p.Gly1483Val	missense variant	-	NC_000011.10:g.46873375C>A	ExAC,gnomAD
rs755261385	p.Gly1491Asp	missense variant	-	NC_000011.10:g.46873211C>T	ExAC,gnomAD
rs1451422777	p.Ile1493Asn	missense variant	-	NC_000011.10:g.46873205A>T	TOPMed
rs751679601	p.Ile1493Leu	missense variant	-	NC_000011.10:g.46873206T>G	ExAC,TOPMed,gnomAD
rs751679601	p.Ile1493Val	missense variant	-	NC_000011.10:g.46873206T>C	ExAC,TOPMed,gnomAD
rs778796865	p.Ile1496Val	missense variant	-	NC_000011.10:g.46873197T>C	ExAC,gnomAD
rs753647067	p.Glu1497Ala	missense variant	-	NC_000011.10:g.46873193T>G	ExAC
rs757039930	p.Glu1497Lys	missense variant	-	NC_000011.10:g.46873194C>T	ExAC,gnomAD
rs757039930	p.Glu1497Gln	missense variant	-	NC_000011.10:g.46873194C>G	ExAC,gnomAD
rs761368629	p.Arg1498ProGlyLeuAlaLysLysIleLeuSerGlyPheThrTerTerTerSerLeuUnk	stop gained	-	NC_000011.10:g.46873190_46873191insAAAGACTATCATTAAGTAAAACCAGATAAAATCTTTTTGGCTAGGCCAG	ExAC
RCV000559331	p.Arg1498Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873190C>T	ClinVar
rs764079526	p.Arg1498Gln	missense variant	-	NC_000011.10:g.46873190C>T	ExAC,TOPMed,gnomAD
rs1431817175	p.Arg1498Trp	missense variant	-	NC_000011.10:g.46873191G>A	gnomAD
rs369665635	p.Asn1500Lys	missense variant	-	NC_000011.10:g.46873183G>C	ESP,ExAC,TOPMed,gnomAD
rs375220795	p.Leu1501Phe	missense variant	-	NC_000011.10:g.46873180C>G	ESP,ExAC,gnomAD
RCV000523365	p.Leu1501Phe	missense variant	-	NC_000011.10:g.46873180C>G	ClinVar
rs200506943	p.Asp1502Ala	missense variant	-	NC_000011.10:g.46873178T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000537634	p.Asp1502Ala	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873178T>G	ClinVar
RCV000722490	p.Ser1504Phe	missense variant	-	NC_000011.10:g.46873172G>A	ClinVar
NCI-TCGA novel	p.Ser1504LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.46873172G>-	NCI-TCGA
rs1257825434	p.Glu1505Gln	missense variant	-	NC_000011.10:g.46873170C>G	TOPMed
rs766025454	p.Arg1506Trp	missense variant	-	NC_000011.10:g.46873167G>A	ExAC,TOPMed,gnomAD
rs142300637	p.Arg1506Gln	missense variant	-	NC_000011.10:g.46873166C>T	ESP,ExAC,TOPMed,gnomAD
rs748607012	p.Lys1507Arg	missense variant	-	NC_000011.10:g.46873163T>C	ExAC,gnomAD
rs776868704	p.Asn1511His	missense variant	-	NC_000011.10:g.46873152T>G	ExAC,gnomAD
rs768813159	p.Thr1512Arg	missense variant	-	NC_000011.10:g.46873148G>C	ExAC,TOPMed,gnomAD
rs768813159	p.Thr1512Ile	missense variant	-	NC_000011.10:g.46873148G>A	ExAC,TOPMed,gnomAD
COSM6068716	p.Asp1513Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873146C>A	NCI-TCGA Cosmic
rs758635404	p.Gly1515Ala	missense variant	-	NC_000011.10:g.46873139C>G	ExAC,gnomAD
rs749107931	p.Asn1518Asp	missense variant	-	NC_000011.10:g.46873131T>C	ExAC,gnomAD
rs1407907893	p.Gly1519Asp	missense variant	-	NC_000011.10:g.46873127C>T	TOPMed
rs915850062	p.Leu1520Phe	missense variant	-	NC_000011.10:g.46873125G>A	gnomAD
rs777480654	p.Thr1521Ile	missense variant	-	NC_000011.10:g.46873121G>A	ExAC,gnomAD
COSM1135185	p.Asp1525His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873110C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1525Asn	missense variant	-	NC_000011.10:g.46873110C>T	NCI-TCGA
rs756059712	p.Arg1527Cys	missense variant	-	NC_000011.10:g.46873104G>A	ExAC,gnomAD
rs752582587	p.Arg1527His	missense variant	-	NC_000011.10:g.46873103C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1531Cys	missense variant	-	NC_000011.10:g.46871624C>A	NCI-TCGA
rs147609642	p.Val1532Leu	missense variant	-	NC_000011.10:g.46871623C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1168782671	p.Asp1533Gly	missense variant	-	NC_000011.10:g.46871619T>C	gnomAD
rs755863702	p.Ala1534Val	missense variant	-	NC_000011.10:g.46871616G>A	ExAC,TOPMed,gnomAD
COSM71483	p.Ala1534Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46871617C>T	NCI-TCGA Cosmic
rs754937150	p.His1535Arg	missense variant	-	NC_000011.10:g.46871613T>C	ExAC,gnomAD
rs146993399	p.Arg1538Trp	missense variant	-	NC_000011.10:g.46871605G>A	ESP,ExAC,TOPMed,gnomAD
rs140495790	p.Arg1538Gln	missense variant	-	NC_000011.10:g.46871604C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000354293	p.Arg1538Gln	missense variant	Bone Mineral Density Variation	NC_000011.10:g.46871604C>T	ClinVar
rs1273248784	p.Glu1540Lys	missense variant	-	NC_000011.10:g.46871599C>T	gnomAD
COSM1321672	p.Glu1540Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46871599C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1540Asp	missense variant	-	NC_000011.10:g.46871597C>G	NCI-TCGA
rs1197230763	p.Ser1541Asn	missense variant	-	NC_000011.10:g.46871595C>T	gnomAD
rs1342214923	p.Ala1542Gly	missense variant	-	NC_000011.10:g.46871592G>C	gnomAD
rs1248400817	p.Asp1543Asn	missense variant	-	NC_000011.10:g.46871590C>T	TOPMed
NCI-TCGA novel	p.Asp1543Glu	missense variant	-	NC_000011.10:g.46871588G>T	NCI-TCGA
rs142352845	p.Asn1545Ser	missense variant	-	NC_000011.10:g.46871583T>C	ESP,TOPMed,gnomAD
rs1373017728	p.Gly1546Glu	missense variant	-	NC_000011.10:g.46871580C>T	gnomAD
RCV000821968	p.Arg1549Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46871571C>T	ClinVar
RCV000315876	p.Arg1549Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46871571C>T	ClinVar
rs764949031	p.Arg1549Trp	missense variant	-	NC_000011.10:g.46871572G>A	ExAC,gnomAD
rs886048348	p.Arg1549Gln	missense variant	-	NC_000011.10:g.46871571C>T	gnomAD
rs1393399321	p.Gln1550Glu	missense variant	-	NC_000011.10:g.46871569G>C	gnomAD
rs201083257	p.Val1551Gly	missense variant	-	NC_000011.10:g.46871565A>C	ExAC,gnomAD
rs2306029	p.Ser1554Cys	missense variant	-	NC_000011.10:g.46871557T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2306029	p.Ser1554Gly	missense variant	-	NC_000011.10:g.46871557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2306029	p.Ser1554Gly	missense variant	-	NC_000011.10:g.46871557T>C	UniProt,dbSNP
VAR_057956	p.Ser1554Gly	missense variant	-	NC_000011.10:g.46871557T>C	UniProt
RCV000262910	p.Ser1554Gly	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46871557T>C	ClinVar
rs1157441585	p.Pro1559Leu	missense variant	-	NC_000011.10:g.46871541G>A	TOPMed,gnomAD
rs1395051241	p.Thr1563Ala	missense variant	-	NC_000011.10:g.46871530T>C	TOPMed
COSM688014	p.Gln1564Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46871526T>C	NCI-TCGA Cosmic
rs199747378	p.Arg1567Trp	missense variant	-	NC_000011.10:g.46869126T>A	ESP,ExAC,TOPMed,gnomAD
rs1428019848	p.Arg1567Met	missense variant	-	NC_000011.10:g.46869125C>A	gnomAD
rs761112628	p.Trp1568Ser	missense variant	-	NC_000011.10:g.46869122C>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp1568Ter	stop gained	-	NC_000011.10:g.46869121C>T	NCI-TCGA
rs1196625449	p.Ile1569Thr	missense variant	-	NC_000011.10:g.46869119A>G	gnomAD
NCI-TCGA novel	p.Tyr1570Cys	missense variant	-	NC_000011.10:g.46869116T>C	NCI-TCGA
rs1486355201	p.Trp1574Arg	missense variant	-	NC_000011.10:g.46869105A>G	gnomAD
rs759662512	p.Lys1577Asn	missense variant	-	NC_000011.10:g.46869094C>G	ExAC,gnomAD
rs1447465345	p.Ile1579Val	missense variant	-	NC_000011.10:g.46869090T>C	TOPMed,gnomAD
rs958154316	p.Gln1580Lys	missense variant	-	NC_000011.10:g.46869087G>T	gnomAD
rs1180896686	p.Gln1580Arg	missense variant	-	NC_000011.10:g.46869086T>C	TOPMed,gnomAD
rs771144609	p.Arg1581Cys	missense variant	-	NC_000011.10:g.46869084G>A	ExAC,TOPMed,gnomAD
rs1355465373	p.Arg1581His	missense variant	-	NC_000011.10:g.46869083C>T	TOPMed,gnomAD
rs1355465373	p.Arg1581Leu	missense variant	-	NC_000011.10:g.46869083C>A	TOPMed,gnomAD
COSM1298078	p.Asp1583Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46869078C>T	NCI-TCGA Cosmic
rs1234172726	p.Gly1587Asp	missense variant	-	NC_000011.10:g.46869065C>T	gnomAD
rs746746234	p.Arg1588Gln	missense variant	-	NC_000011.10:g.46869062C>T	ExAC,TOPMed,gnomAD
rs546318025	p.Arg1588Gly	missense variant	-	NC_000011.10:g.46869063G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs546318025	p.Arg1588Trp	missense variant	-	NC_000011.10:g.46869063G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1346806071	p.Asn1589Lys	missense variant	-	NC_000011.10:g.46869058G>C	TOPMed
COSM117682	p.Asn1589Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46869059T>C	NCI-TCGA Cosmic
rs1277754891	p.Ala1595Thr	missense variant	-	NC_000011.10:g.46869042C>T	TOPMed
rs771887234	p.Val1597Leu	missense variant	-	NC_000011.10:g.46869036C>G	ExAC,gnomAD
rs1485417300	p.Met1601Val	missense variant	-	NC_000011.10:g.46869024T>C	TOPMed
COSM927330	p.Asp1602Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46869021C>T	NCI-TCGA Cosmic
rs147688807	p.Ile1603Val	missense variant	-	NC_000011.10:g.46869018T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756986432	p.Ile1604Thr	missense variant	-	NC_000011.10:g.46869014A>G	ExAC,TOPMed,gnomAD
rs778034069	p.Pro1608Ser	missense variant	-	NC_000011.10:g.46869003G>A	ExAC,gnomAD
rs756543033	p.Arg1610Gln	missense variant	-	NC_000011.10:g.46868996C>T	ExAC,gnomAD
rs1322703272	p.Arg1610Trp	missense variant	-	NC_000011.10:g.46868997G>A	gnomAD
rs756543033	p.Arg1610Leu	missense variant	-	NC_000011.10:g.46868996C>A	ExAC,gnomAD
rs185325829	p.Gln1611Lys	missense variant	-	NC_000011.10:g.46868994G>T	1000Genomes
rs1195193893	p.Asn1615Ser	missense variant	-	NC_000011.10:g.46868707T>C	gnomAD
rs777534564	p.Cys1617Arg	missense variant	-	NC_000011.10:g.46868702A>G	ExAC,gnomAD
rs777534564	p.Cys1617Gly	missense variant	-	NC_000011.10:g.46868702A>C	ExAC,gnomAD
rs1308122736	p.Val1619Met	missense variant	-	NC_000011.10:g.46868696C>T	TOPMed,gnomAD
rs567251271	p.Asn1621Asp	missense variant	-	NC_000011.10:g.46868690T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs748615526	p.Asn1621Ser	missense variant	-	NC_000011.10:g.46868689T>C	ExAC
rs1408004717	p.Thr1625Ile	missense variant	-	NC_000011.10:g.46868677G>A	gnomAD
rs1347726055	p.Cys1628Trp	missense variant	-	NC_000011.10:g.46868667G>C	gnomAD
rs1304821330	p.Ala1630Val	missense variant	-	NC_000011.10:g.46868662G>A	gnomAD
rs146362081	p.Ser1633Leu	missense variant	-	NC_000011.10:g.46868653G>A	ESP,ExAC,TOPMed,gnomAD
RCV000521557	p.Ser1633Leu	missense variant	-	NC_000011.10:g.46868653G>A	ClinVar
rs944046413	p.Asp1634Asn	missense variant	-	NC_000011.10:g.46868651C>T	TOPMed,gnomAD
rs368124164	p.Val1636Leu	missense variant	-	NC_000011.10:g.46868645C>G	ESP,ExAC,TOPMed,gnomAD
rs368124164	p.Val1636Ile	missense variant	-	NC_000011.10:g.46868645C>T	ESP,ExAC,TOPMed,gnomAD
rs1259523978	p.Cys1637Tyr	missense variant	-	NC_000011.10:g.46868641C>T	TOPMed
rs775370217	p.Glu1642Lys	missense variant	-	NC_000011.10:g.46868627C>T	ExAC,gnomAD
rs767372563	p.Pro1643Arg	missense variant	-	NC_000011.10:g.46868623G>C	ExAC,TOPMed,gnomAD
rs767372563	p.Pro1643Leu	missense variant	-	NC_000011.10:g.46868623G>A	ExAC,TOPMed,gnomAD
RCV000370312	p.Pro1643Leu	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868623G>A	ClinVar
rs192480207	p.Asp1644His	missense variant	-	NC_000011.10:g.46868621C>G	1000Genomes,ExAC,gnomAD
rs3816614	p.Arg1646Leu	missense variant	-	NC_000011.10:g.46868614C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3816614	p.Arg1646Gln	missense variant	-	NC_000011.10:g.46868614C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000313366	p.Arg1646Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868614C>T	ClinVar
rs141213903	p.Arg1646Trp	missense variant	-	NC_000011.10:g.46868615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772595373	p.Pro1647Leu	missense variant	-	NC_000011.10:g.46868611G>A	ExAC,gnomAD
rs769497270	p.Cys1648Ser	missense variant	-	NC_000011.10:g.46868608C>G	ExAC,TOPMed,gnomAD
rs769497270	p.Cys1648Phe	missense variant	-	NC_000011.10:g.46868608C>A	ExAC,TOPMed,gnomAD
rs1344586872	p.Leu1650Phe	missense variant	-	NC_000011.10:g.46868603G>A	TOPMed
rs374843047	p.Val1651Leu	missense variant	-	NC_000011.10:g.46868600C>A	ESP,ExAC,gnomAD
rs372878354	p.Pro1652Ala	missense variant	-	NC_000011.10:g.46868112G>C	ESP,ExAC,TOPMed,gnomAD
rs1310106860	p.Gly1653Ser	missense variant	-	NC_000011.10:g.46868109C>T	gnomAD
rs1232340981	p.Val1655Leu	missense variant	-	NC_000011.10:g.46868103C>A	gnomAD
NCI-TCGA novel	p.Pro1656Leu	missense variant	-	NC_000011.10:g.46868099G>A	NCI-TCGA
rs1355733188	p.Pro1657Ser	missense variant	-	NC_000011.10:g.46868097G>A	TOPMed,gnomAD
rs1355733188	p.Pro1657Ala	missense variant	-	NC_000011.10:g.46868097G>C	TOPMed,gnomAD
rs1167322838	p.Ala1658Pro	missense variant	-	NC_000011.10:g.46868094C>G	TOPMed
NCI-TCGA novel	p.Pro1659Thr	missense variant	-	NC_000011.10:g.46868091G>T	NCI-TCGA
NCI-TCGA novel	p.Pro1659His	missense variant	-	NC_000011.10:g.46868090G>T	NCI-TCGA
rs768284053	p.Ala1661Thr	missense variant	-	NC_000011.10:g.46868085C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1661Val	missense variant	-	NC_000011.10:g.46868084G>A	NCI-TCGA
rs1384073340	p.Thr1662Ser	missense variant	-	NC_000011.10:g.46868081G>C	gnomAD
rs747440221	p.Met1664Lys	missense variant	-	NC_000011.10:g.46868075A>T	ExAC,TOPMed,gnomAD
rs1455143794	p.Met1664Val	missense variant	-	NC_000011.10:g.46868076T>C	gnomAD
RCV000690106	p.Met1664Val	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868076T>C	ClinVar
rs567312813	p.Pro1672Ser	missense variant	-	NC_000011.10:g.46868052G>A	1000Genomes,ExAC,gnomAD
rs1190070901	p.Asn1673Ser	missense variant	-	NC_000011.10:g.46868048T>C	TOPMed,gnomAD
rs1269098201	p.Thr1678Ile	missense variant	-	NC_000011.10:g.46868033G>A	TOPMed
rs779082849	p.Tyr1680Phe	missense variant	-	NC_000011.10:g.46868027T>A	ExAC,gnomAD
COSM927328	p.Ser1681Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46868024G>T	NCI-TCGA Cosmic
rs138238230	p.Arg1685Leu	missense variant	-	NC_000011.10:g.46868012C>A	ESP,ExAC,TOPMed,gnomAD
rs143717815	p.Arg1685Trp	missense variant	-	NC_000011.10:g.46868013G>A	ESP,ExAC,TOPMed,gnomAD
rs138238230	p.Arg1685Gln	missense variant	-	NC_000011.10:g.46868012C>T	ESP,ExAC,TOPMed,gnomAD
RCV000551609	p.Arg1685Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868012C>T	ClinVar
RCV000591887	p.Arg1685Gln	missense variant	-	NC_000011.10:g.46868012C>T	ClinVar
rs751407728	p.Arg1687His	missense variant	-	NC_000011.10:g.46868006C>T	ExAC,gnomAD
rs756403884	p.Arg1687Cys	missense variant	-	NC_000011.10:g.46868007G>A	ExAC,gnomAD
rs766225540	p.Thr1688Met	missense variant	-	NC_000011.10:g.46868003G>A	ExAC,gnomAD
rs528376810	p.Glu1691Lys	missense variant	-	NC_000011.10:g.46867995C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1302658815	p.Cys1697Tyr	missense variant	-	NC_000011.10:g.46865184C>T	gnomAD
rs1241649761	p.Asp1701Asn	missense variant	-	NC_000011.10:g.46865173C>T	TOPMed,gnomAD
rs1441344633	p.Arg1703Ser	missense variant	-	NC_000011.10:g.46865165C>A	gnomAD
rs898009585	p.Gly1705Asp	missense variant	-	NC_000011.10:g.46865160C>T	TOPMed,gnomAD
rs1389849334	p.Leu1706Phe	missense variant	-	NC_000011.10:g.46865158G>A	gnomAD
rs756420222	p.Cys1707Tyr	missense variant	-	NC_000011.10:g.46865154C>T	ExAC,gnomAD
rs560103351	p.Arg1709Leu	missense variant	-	NC_000011.10:g.46865148C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748338944	p.Arg1709Cys	missense variant	-	NC_000011.10:g.46865149G>A	ExAC,gnomAD
rs560103351	p.Arg1709Pro	missense variant	-	NC_000011.10:g.46865148C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs560103351	p.Arg1709His	missense variant	-	NC_000011.10:g.46865148C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774058346	p.Asn1711Ser	missense variant	-	NC_000011.10:g.46865142T>C	TOPMed,gnomAD
rs958363854	p.Asn1711Asp	missense variant	-	NC_000011.10:g.46865143T>C	TOPMed
rs549668261	p.Ala1713Thr	missense variant	-	NC_000011.10:g.46865137C>T	1000Genomes,gnomAD
rs1035754612	p.Ala1713Val	missense variant	-	NC_000011.10:g.46865136G>A	TOPMed,gnomAD
rs1002830453	p.Val1714Leu	missense variant	-	NC_000011.10:g.46865134C>G	TOPMed,gnomAD
rs1002830453	p.Val1714Ile	missense variant	-	NC_000011.10:g.46865134C>T	TOPMed,gnomAD
rs1197029056	p.Pro1715Ser	missense variant	-	NC_000011.10:g.46865131G>A	gnomAD
rs1036603029	p.Pro1718Leu	missense variant	-	NC_000011.10:g.46865121G>A	TOPMed
rs755223289	p.Gly1719Glu	missense variant	-	NC_000011.10:g.46864535C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1721Ter	stop gained	-	NC_000011.10:g.46864530C>A	NCI-TCGA
rs117936904	p.Leu1722His	missense variant	-	NC_000011.10:g.46864526A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000536860	p.Leu1722His	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46864526A>T	ClinVar
rs778710722	p.His1723Tyr	missense variant	-	NC_000011.10:g.46864524G>A	ExAC,gnomAD
rs757207852	p.His1723Arg	missense variant	-	NC_000011.10:g.46864523T>C	ExAC,TOPMed,gnomAD
rs753737131	p.Ile1724Thr	missense variant	-	NC_000011.10:g.46864520A>G	ExAC,gnomAD
rs914781633	p.Ala1727Thr	missense variant	-	NC_000011.10:g.46864512C>T	TOPMed,gnomAD
rs755670839	p.Ala1727Gly	missense variant	-	NC_000011.10:g.46864511G>C	ExAC,gnomAD
rs148865136	p.Ile1728Val	missense variant	-	NC_000011.10:g.46864509T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000357498	p.Ile1728Val	missense variant	-	NC_000011.10:g.46864509T>C	ClinVar
rs767146257	p.Ile1728Thr	missense variant	-	NC_000011.10:g.46864508A>G	ExAC,gnomAD
RCV000525905	p.Ile1728Val	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46864509T>C	ClinVar
rs367608390	p.Gly1729Ala	missense variant	-	NC_000011.10:g.46864505C>G	ESP,TOPMed,gnomAD
rs759166068	p.Leu1731Phe	missense variant	-	NC_000011.10:g.46864500G>A	ExAC,gnomAD
rs1447336134	p.Leu1732Phe	missense variant	-	NC_000011.10:g.46864497G>A	gnomAD
RCV000690648	p.Leu1732Phe	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46864497G>A	ClinVar
rs1363513279	p.Ile1737Thr	missense variant	-	NC_000011.10:g.46864481A>G	gnomAD
rs1172246708	p.Leu1738Val	missense variant	-	NC_000011.10:g.46864479A>C	gnomAD
rs774595249	p.Leu1738Phe	missense variant	-	NC_000011.10:g.46864477C>A	ExAC,gnomAD
rs766720735	p.Val1740Ala	missense variant	-	NC_000011.10:g.46864472A>G	ExAC,gnomAD
rs763376596	p.Ile1741Leu	missense variant	-	NC_000011.10:g.46864470T>G	ExAC,gnomAD
rs773902775	p.Ile1741Thr	missense variant	-	NC_000011.10:g.46864469A>G	ExAC,gnomAD
rs770406349	p.Ala1742Glu	missense variant	-	NC_000011.10:g.46864466G>T	ExAC,gnomAD
rs748302083	p.Ala1743Thr	missense variant	-	NC_000011.10:g.46864464C>T	ExAC
rs776705313	p.Met1745Thr	missense variant	-	NC_000011.10:g.46864457A>G	ExAC,TOPMed,gnomAD
rs1268900104	p.Leu1746Arg	missense variant	-	NC_000011.10:g.46864454A>C	gnomAD
rs1320624933	p.Tyr1747Ter	stop gained	-	NC_000011.10:g.46864450G>T	gnomAD
rs1489554331	p.Lys1753Asn	missense variant	-	NC_000011.10:g.46862732C>A	gnomAD
rs777480637	p.Lys1753Gln	missense variant	-	NC_000011.10:g.46862734T>G	ExAC,gnomAD
COSM4033100	p.Lys1753Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46862733T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1753Thr	missense variant	-	NC_000011.10:g.46862733T>G	NCI-TCGA
rs769740360	p.Thr1755Ser	missense variant	-	NC_000011.10:g.46862727G>C	ExAC,gnomAD
rs1182043724	p.Asp1756Asn	missense variant	-	NC_000011.10:g.46862725C>T	TOPMed
rs1242777417	p.Met1759Leu	missense variant	-	NC_000011.10:g.46862716T>A	TOPMed
rs780600793	p.Gly1760Ala	missense variant	-	NC_000011.10:g.46862712C>G	ExAC,gnomAD
rs1419829426	p.Tyr1764Cys	missense variant	-	NC_000011.10:g.46862700T>C	TOPMed
NCI-TCGA novel	p.Ser1768IlePheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46862689_46862690insT	NCI-TCGA
rs150211735	p.Arg1770Gln	missense variant	-	NC_000011.10:g.46862682C>T	ESP,ExAC,TOPMed,gnomAD
rs751018057	p.Arg1770Ter	stop gained	-	NC_000011.10:g.46862683G>A	ExAC,gnomAD
rs758054645	p.Thr1771Lys	missense variant	-	NC_000011.10:g.46862679G>T	ExAC,gnomAD
rs762257054	p.Gln1774Arg	missense variant	-	NC_000011.10:g.46862670T>C	ExAC,gnomAD
rs1362370941	p.Gln1774Lys	missense variant	-	NC_000011.10:g.46862671G>T	TOPMed
rs754407389	p.Glu1775Gln	missense variant	-	NC_000011.10:g.46862668C>G	ExAC,gnomAD
rs1453731610	p.Val1776Leu	missense variant	-	NC_000011.10:g.46862665C>A	TOPMed
NCI-TCGA novel	p.Val1776Glu	missense variant	-	NC_000011.10:g.46862664A>T	NCI-TCGA
RCV000343970	p.Lys1777Thr	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46862661T>G	ClinVar
rs541585714	p.Lys1777Thr	missense variant	-	NC_000011.10:g.46862661T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1376005192	p.Ile1778Ser	missense variant	-	NC_000011.10:g.46862658A>C	gnomAD
rs1407744209	p.Ile1778Phe	missense variant	-	NC_000011.10:g.46862659T>A	TOPMed
COSM927326	p.Glu1779Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46862656C>T	NCI-TCGA Cosmic
rs1177885758	p.Ile1781Val	missense variant	-	NC_000011.10:g.46862650T>C	gnomAD
rs1417153260	p.Ile1781Thr	missense variant	-	NC_000011.10:g.46862649A>G	gnomAD
COSM3447714	p.Pro1782Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46862647G>A	NCI-TCGA Cosmic
rs572574091	p.Lys1783Asn	missense variant	-	NC_000011.10:g.46862642T>G	1000Genomes,ExAC,gnomAD
rs61748876	p.Met1786Lys	missense variant	-	NC_000011.10:g.46862634A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61748876	p.Met1786Thr	missense variant	-	NC_000011.10:g.46862634A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000643986	p.Met1786Lys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46862634A>T	ClinVar
RCV000177906	p.Met1786Lys	missense variant	-	NC_000011.10:g.46862634A>T	ClinVar
NCI-TCGA novel	p.Met1786Ile	missense variant	-	NC_000011.10:g.46862633C>T	NCI-TCGA
rs1208850907	p.Asn1788His	missense variant	-	NC_000011.10:g.46862629T>G	gnomAD
rs138291903	p.Gln1789Glu	missense variant	-	NC_000011.10:g.46862626G>C	1000Genomes,ExAC,gnomAD
rs569930780	p.Leu1790Met	missense variant	-	NC_000011.10:g.46862623G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs146542222	p.Tyr1792His	missense variant	-	NC_000011.10:g.46862617A>G	ESP,ExAC,TOPMed,gnomAD
rs758146599	p.Tyr1792Cys	missense variant	-	NC_000011.10:g.46862616T>C	ExAC,TOPMed,gnomAD
rs778676466	p.Lys1793Thr	missense variant	-	NC_000011.10:g.46862613T>G	ExAC,TOPMed,gnomAD
rs777943390	p.Gly1797Arg	missense variant	-	NC_000011.10:g.46859312C>T	ExAC,gnomAD
rs756670241	p.Gly1797Glu	missense variant	-	NC_000011.10:g.46859311C>T	ExAC,gnomAD
rs144229304	p.His1800Tyr	missense variant	-	NC_000011.10:g.46859303G>A	ESP,ExAC,TOPMed,gnomAD
rs140715783	p.Asn1801Thr	missense variant	-	NC_000011.10:g.46859299T>G	ESP,ExAC,TOPMed,gnomAD
rs140715783	p.Asn1801Ile	missense variant	-	NC_000011.10:g.46859299T>A	ESP,ExAC,TOPMed,gnomAD
rs1238593419	p.Tyr1802Cys	missense variant	-	NC_000011.10:g.46859296T>C	TOPMed
rs755103149	p.Lys1806Arg	missense variant	-	NC_000011.10:g.46859284T>C	ExAC,gnomAD
rs751631267	p.Lys1806Asn	missense variant	-	NC_000011.10:g.46859283C>A	ExAC,TOPMed,gnomAD
rs772706817	p.Lys1808Asn	missense variant	-	NC_000011.10:g.46859277C>G	TOPMed,gnomAD
rs1048709016	p.Lys1808Arg	missense variant	-	NC_000011.10:g.46859278T>C	TOPMed,gnomAD
rs373162825	p.Ile1809Asn	missense variant	-	NC_000011.10:g.46859275A>T	ESP,ExAC,gnomAD
rs779299308	p.Val1810Ile	missense variant	-	NC_000011.10:g.46859273C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1810Leu	missense variant	-	NC_000011.10:g.46859273C>A	NCI-TCGA
COSM4916726	p.Glu1811Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46859270C>A	NCI-TCGA Cosmic
rs991397044	p.Ile1813Thr	missense variant	-	NC_000011.10:g.46859263A>G	TOPMed
rs1250729752	p.Ile1813Val	missense variant	-	NC_000011.10:g.46859264T>C	gnomAD
rs760515633	p.Cys1814Tyr	missense variant	-	NC_000011.10:g.46859260C>T	ExAC,TOPMed,gnomAD
rs760515633	p.Cys1814Ser	missense variant	-	NC_000011.10:g.46859260C>G	ExAC,TOPMed,gnomAD
rs772123153	p.Ser1817Thr	missense variant	-	NC_000011.10:g.46859252A>T	ExAC,gnomAD
rs772123153	p.Ser1817Pro	missense variant	-	NC_000011.10:g.46859252A>G	ExAC,gnomAD
rs759183770	p.Ser1817Cys	missense variant	-	NC_000011.10:g.46859251G>C	ExAC,gnomAD
rs773670430	p.Gly1818Arg	missense variant	-	NC_000011.10:g.46859249C>T	ExAC,gnomAD
rs770632442	p.Gly1818Val	missense variant	-	NC_000011.10:g.46859248C>A	ExAC,gnomAD
rs770188065	p.Asp1819Asn	missense variant	-	NC_000011.10:g.46859246C>T	ExAC,gnomAD
rs770188065	p.Asp1819Tyr	missense variant	-	NC_000011.10:g.46859246C>A	ExAC,gnomAD
RCV000282162	p.Asp1819Val	missense variant	-	NC_000011.10:g.46859245T>A	ClinVar
rs886043837	p.Asp1819Val	missense variant	-	NC_000011.10:g.46859245T>A	-
rs1325005923	p.Asp1820Gly	missense variant	-	NC_000011.10:g.46859242T>C	gnomAD
rs781711078	p.Leu1826Val	missense variant	-	NC_000011.10:g.46859225G>C	ExAC,gnomAD
rs567501477	p.Arg1830Ter	stop gained	-	NC_000011.10:g.46859213G>A	ExAC,gnomAD
rs567501477	p.Arg1830Gly	missense variant	-	NC_000011.10:g.46859213G>C	ExAC,gnomAD
rs146864522	p.Arg1830Gln	missense variant	-	NC_000011.10:g.46859212C>T	ESP,ExAC,TOPMed,gnomAD
RCV000177936	p.Arg1830Gln	missense variant	-	NC_000011.10:g.46859212C>T	ClinVar
RCV000808408	p.Arg1830Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859212C>T	ClinVar
rs758676264	p.Ser1831Gly	missense variant	-	NC_000011.10:g.46859210T>C	ExAC,gnomAD
rs1393617361	p.Arg1833Gly	missense variant	-	NC_000011.10:g.46859204G>C	TOPMed,gnomAD
rs771256759	p.Arg1833Gln	missense variant	-	NC_000011.10:g.46859203C>T	ExAC,TOPMed,gnomAD
rs771256759	p.Arg1833Pro	missense variant	-	NC_000011.10:g.46859203C>G	ExAC,TOPMed,gnomAD
rs1393617361	p.Arg1833Trp	missense variant	-	NC_000011.10:g.46859204G>A	TOPMed,gnomAD
rs142462686	p.Gly1834Trp	missense variant	-	NC_000011.10:g.46859201C>A	ESP,ExAC,TOPMed,gnomAD
rs142462686	p.Gly1834Arg	missense variant	-	NC_000011.10:g.46859201C>G	ESP,ExAC,TOPMed,gnomAD
rs142462686	p.Gly1834Arg	missense variant	-	NC_000011.10:g.46859201C>T	ESP,ExAC,TOPMed,gnomAD
rs1269029549	p.Gly1834Glu	missense variant	-	NC_000011.10:g.46859200C>T	gnomAD
rs752536167	p.Gly1835Ser	missense variant	-	NC_000011.10:g.46859198C>T	ExAC,gnomAD
rs1324867173	p.Gly1835Ala	missense variant	-	NC_000011.10:g.46859197C>G	TOPMed,gnomAD
rs745628337	p.Gly1835AlaPheSerTerUnk	frameshift	-	NC_000011.10:g.46859197C>-	NCI-TCGA,NCI-TCGA Cosmic
rs1031449863	p.Leu1836Pro	missense variant	-	NC_000011.10:g.46859194A>G	TOPMed
rs781010468	p.Leu1836ProPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.46859196_46859197insC	NCI-TCGA
rs540240854	p.Leu1837Phe	missense variant	-	NC_000011.10:g.46859192G>A	1000Genomes,TOPMed
rs759491078	p.Leu1837Pro	missense variant	-	NC_000011.10:g.46859191A>G	ExAC,TOPMed,gnomAD
RCV000763744	p.Arg1838Gln	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859188C>T	ClinVar
rs770309253	p.Arg1838Leu	missense variant	-	NC_000011.10:g.46859188C>A	ExAC,TOPMed,gnomAD
rs770309253	p.Arg1838Gln	missense variant	-	NC_000011.10:g.46859188C>T	ExAC,TOPMed,gnomAD
rs199969059	p.Arg1838Trp	missense variant	-	NC_000011.10:g.46859189G>A	ESP,ExAC,TOPMed,gnomAD
RCV000412878	p.Arg1838Gln	missense variant	-	NC_000011.10:g.46859188C>T	ClinVar
rs968707258	p.Asp1839Tyr	missense variant	-	NC_000011.10:g.46859186C>A	TOPMed
rs148761432	p.His1840Arg	missense variant	-	NC_000011.10:g.46859182T>C	ESP,ExAC,TOPMed,gnomAD
rs769426991	p.Cys1842Arg	missense variant	-	NC_000011.10:g.46859177A>G	ExAC,gnomAD
rs1466826075	p.Thr1845Ile	missense variant	-	NC_000011.10:g.46859167G>A	TOPMed
rs781473865	p.Asp1846Gly	missense variant	-	NC_000011.10:g.46859164T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1846Tyr	missense variant	-	NC_000011.10:g.46859165C>A	NCI-TCGA
rs375391856	p.Thr1847Met	missense variant	-	NC_000011.10:g.46859161G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1391541955	p.Gln1851Ter	stop gained	-	NC_000011.10:g.46859150G>A	gnomAD
rs758456452	p.Ala1852Ser	missense variant	-	NC_000011.10:g.46859147C>A	ExAC,gnomAD
rs779072150	p.Ser1853Gly	missense variant	-	NC_000011.10:g.46859144T>C	ExAC,gnomAD
rs139535571	p.Ser1853Asn	missense variant	-	NC_000011.10:g.46859143C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1417974209	p.Gly1855Val	missense variant	-	NC_000011.10:g.46859137C>A	gnomAD
rs1251863780	p.Ser1856Pro	missense variant	-	NC_000011.10:g.46859135A>G	gnomAD
rs752556259	p.Asp1858Asn	missense variant	-	NC_000011.10:g.46859129C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1858Tyr	missense variant	-	NC_000011.10:g.46859129C>A	NCI-TCGA
rs1200818954	p.Glu1861Lys	missense variant	-	NC_000011.10:g.46859120C>T	gnomAD
rs368840169	p.Thr1862Met	missense variant	-	NC_000011.10:g.46859116G>A	ESP,ExAC,TOPMed,gnomAD
rs1335430618	p.Leu1866Val	missense variant	-	NC_000011.10:g.46859105A>C	gnomAD
rs1288994052	p.Gln1867Ter	stop gained	-	NC_000011.10:g.46859102G>A	gnomAD
rs1406725054	p.Glu1869Lys	missense variant	-	NC_000011.10:g.46859096C>T	gnomAD
rs906901321	p.Cys1873Arg	missense variant	-	NC_000011.10:g.46859084A>G	TOPMed
rs1312872252	p.Cys1873Tyr	missense variant	-	NC_000011.10:g.46859083C>T	gnomAD
NCI-TCGA novel	p.Ser1874Ile	missense variant	-	NC_000011.10:g.46859080C>A	NCI-TCGA
rs761403316	p.Val1876Ile	missense variant	-	NC_000011.10:g.46859075C>T	ExAC,TOPMed,gnomAD
rs769047003	p.His1877Arg	missense variant	-	NC_000011.10:g.46859071T>C	ExAC,gnomAD
rs769047003	p.His1877Leu	missense variant	-	NC_000011.10:g.46859071T>A	ExAC,gnomAD
rs1452525646	p.Ala1879Val	missense variant	-	NC_000011.10:g.46859065G>A	gnomAD
rs1366363724	p.Glu1883Val	missense variant	-	NC_000011.10:g.46859053T>A	TOPMed
rs377204138	p.Arg1884Gly	missense variant	-	NC_000011.10:g.46859051T>C	ESP,ExAC,TOPMed,gnomAD
RCV000340576	p.Arg1884Gly	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859051T>C	ClinVar
RCV000643976	p.Arg1884Gly	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859051T>C	ClinVar
rs147138337	p.Arg1885Ter	stop gained	-	NC_000011.10:g.46859048G>A	ESP,ExAC,TOPMed,gnomAD
rs779079160	p.Arg1885Gln	missense variant	-	NC_000011.10:g.46859047C>T	ExAC,TOPMed,gnomAD
rs149082597	p.Ser1887Cys	missense variant	-	NC_000011.10:g.46859041G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000360139	p.Ser1887Cys	missense variant	-	NC_000011.10:g.46859041G>C	ClinVar
RCV000524562	p.Ser1887Cys	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859041G>C	ClinVar
rs749482785	p.Asp1890Gly	missense variant	-	NC_000011.10:g.46859032T>C	ExAC,gnomAD
rs749482785	p.Asp1890Ala	missense variant	-	NC_000011.10:g.46859032T>G	ExAC,gnomAD
rs372637156	p.Thr1891Met	missense variant	-	NC_000011.10:g.46859029G>A	ESP,ExAC,TOPMed,gnomAD
rs778114327	p.Thr1891Ser	missense variant	-	NC_000011.10:g.46859030T>A	ExAC,gnomAD
RCV000283272	p.Thr1891Met	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859029G>A	ClinVar
RCV000699085	p.Thr1891Met	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859029G>A	ClinVar
NCI-TCGA novel	p.Trp1893Cys	missense variant	-	NC_000011.10:g.46859022C>G	NCI-TCGA
rs1212679948	p.Glu1896Ala	missense variant	-	NC_000011.10:g.46859014T>G	TOPMed
rs944605592	p.Arg1897His	missense variant	-	NC_000011.10:g.46859011C>T	TOPMed,gnomAD
rs758294827	p.Arg1897Cys	missense variant	-	NC_000011.10:g.46859012G>A	ExAC,TOPMed,gnomAD
rs1316612833	p.Leu1899Phe	missense variant	-	NC_000011.10:g.46859006G>A	gnomAD
rs368711715	p.Glu1902Asp	missense variant	-	NC_000011.10:g.46858995C>G	ESP,ExAC,gnomAD
rs911752249	p.Val1905Ile	missense variant	-	NC_000011.10:g.46858988C>T	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005745	Blepharoptosis	disease	HPO
C0005938	Bone Density	phenotype	GWASCAT
C0005940	Bone Diseases	group	BEFREE
C0011053	Deafness	phenotype	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0020496	Hyperostosis of skull	disease	MGD
C0020534	Orbital separation excessive	phenotype	HPO
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026896	Myasthenia Gravis	disease	BEFREE
C0027868	Neuromuscular Diseases	group	BEFREE
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029453	Osteopenia	disease	BEFREE
C0029456	Osteoporosis	disease	BEFREE
C0029464	Osteosclerosis	disease	HPO
C0036341	Schizophrenia	disease	GWASCAT
C0039075	Syndactyly	disease	BEFREE;CTD_human;HPO
C0040427	Tooth Abnormalities	group	CTD_human
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0158761	Radioulnar Synostosis	disease	HPO
C0221352	Syndactyly of fingers	disease	HPO
C0221354	Frontal bossing	disease	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0239594	Short finger	phenotype	HPO
C0240547	Deformity of the nose	phenotype	HPO
C0241240	Tall stature	phenotype	HPO
C0265301	Sclerosteosis	disease	BEFREE;CTD_human;ORPHANET
C0265553	Polysyndactyly	disease	CTD_human
C0265660	Syndactyly of the toes	disease	HPO
C0265736	Congenital anomaly of nose	group	HPO
C0266292	Congenital anomaly of the kidney	group	BEFREE
C0266295	Congenital hypoplasia of kidney	disease	HPO
C0302501	Mandibular hyperplasia	phenotype	HPO
C0311394	Difficulty walking	phenotype	HPO
C0339789	Congenital deafness	disease	HPO
C0349631	Richter's syndrome	disease	BEFREE
C0376175	Bell Palsy	disease	HPO
C0399526	Class III malocclusion	disease	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0427055	Facial Paresis	phenotype	HPO
C0431890	Hypoplasia of thumb	disease	HPO
C0432055	Simple syndactyly of fingers - first web	disease	HPO
C0432365	Thalidomide embryopathy syndrome	disease	BEFREE
C0524730	Odontome	disease	CTD_human
C0542519	Congenital absence of kidney	disease	HPO
C0685381	Congenital hypoplasia of radius	disease	HPO
C0700078	Decreased tendon reflex	phenotype	HPO
C0751882	Myasthenic Syndromes, Congenital	disease	BEFREE;CTD_human;GENOMICS_ENGLAND
C0751883	Congenital Myasthenic Syndromes, Postsynaptic	disease	CTD_human;ORPHANET
C0751884	Congenital Myasthenic Syndromes, Presynaptic	disease	CTD_human
C0751885	Myasthenic Syndromes, Congenital, Slow Channel	disease	CTD_human
C0751950	Neuromuscular Junction Diseases	group	BEFREE
C0796016	Microphthalmia, syndromic 1	disease	BEFREE
C0947912	Myasthenias	disease	BEFREE
C1167912	Coagulation factor measurement	group	GWASDB
C1384666	hearing impairment	phenotype	HPO
C1834405	Nail dysplasia	disease	HPO
C1835473	Diaphyseal thickening	phenotype	HPO
C1836193	Synostosis of carpal bones	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1840087	Radial ray hypoplasia	phenotype	HPO
C1844548	Hypoplastic finger	phenotype	HPO
C1844554	Absent fingernail	disease	HPO
C1844555	Absent toenail	disease	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858719	Facial muscle weakness of muscles innervated by CN VII	phenotype	HPO
C1859309	Syndactyly Cenani Lenz type	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1860614	ULNAR HYPOPLASIA	phenotype	HPO
C1862132	Short ulnae	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1868085	Craniofacial hyperostosis	phenotype	HPO
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2235909	Malformation of the nose	phenotype	HPO
C3280402	SCLEROSTEOSIS 2	disease	BEFREE;CLINVAR;MGD;UNIPROT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020952	Fingernail dysplasia	disease	HPO
C4021254	Cutaneous finger syndactyly	disease	HPO
C4021741	Abnormal cortical bone morphology	phenotype	HPO
C4021785	Abnormality of the metacarpal bones	phenotype	HPO
C4024188	Curved distal phalanges of the hand	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4225377	MYASTHENIC SYNDROME, CONGENITAL, 17	disease	CLINVAR;UNIPROT
C4255213	Increased size of skull	phenotype	HPO
C4280516	Thick craniofacial bones	phenotype	HPO
C4280517	Enlargement of craniofacial bones	phenotype	HPO
C4280518	Hypertrophy of craniofacial bones	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005509	calcium ion binding	IEA
GO:0005515	protein binding	IPI
GO:0030971	receptor tyrosine kinase binding	ISS
GO:0034185	apolipoprotein binding	IEA
GO:0042803	protein homodimerization activity	IEA
GO:0097110	scaffold protein binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001822	kidney development	IDA
GO:0001942	hair follicle development	IEA
GO:0006897	endocytosis	IEA
GO:0009953	dorsal/ventral pattern formation	IEA
GO:0009954	proximal/distal pattern formation	IEA
GO:0016055	Wnt signaling pathway	IEA
GO:0030279	negative regulation of ossification	IMP
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0048813	dendrite morphogenesis	ISS
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050771	negative regulation of axonogenesis	ISS
GO:0050808	synapse organization	ISS
GO:0051124	synaptic growth at neuromuscular junction	ISS
GO:0060173	limb development	IDA
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	ISS
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP
GO:0097104	postsynaptic membrane assembly	ISS
GO:0097105	presynaptic membrane assembly	ISS
GO:0150094	amyloid-beta clearance by cellular catabolic process	IMP
GO:1901631	positive regulation of presynaptic membrane organization	ISS
GO:1904395	positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	ISS
GO:0009986	cell surface	ISS
GO:0009986	cell surface	IDA
GO:0014069	postsynaptic density	ISS
GO:0016021	integral component of membrane	IEA
GO:0030425	dendrite	ISS
GO:0031594	neuromuscular junction	ISS
GO:0043025	neuronal cell body	ISS
GO:0044853	plasma membrane raft	ISS
GO:0097060	synaptic membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-3000178	ECM proteoglycans	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in increased expression of LRP4 mRNA	26377693
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of LRP4 mRNA	20453058
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of LRP4 mRNA	19933214
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of LRP4 mRNA	19114083
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in increased expression of LRP4 mRNA	28433925
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in increased expression of LRP4 mRNA	29704546
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of LRP4 mRNA	23196670
C026137	3-hydroxyacetanilide	3-hydroxyacetanilide results in decreased expression of LRP4 mRNA	18544908
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of LRP4 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LRP4 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 increased expression of LRP4 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 Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LRP4 mRNA	27188386
C496492	abrine	abrine results in decreased expression of LRP4 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of LRP4 mRNA	22230336
D000082	Acetaminophen	Acetaminophen results in decreased expression of LRP4 mRNA	18544908
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of LRP4 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of LRP4 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of LRP4 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of LRP4 mRNA	20458559
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of LRP4 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of LRP4 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of LRP4 mRNA	19770486
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in increased expression of LRP4 mRNA	26377693
C006780	bisphenol A	bisphenol A results in increased expression of LRP4 mRNA	29275510
C006780	bisphenol A	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in increased expression of LRP4 mRNA	28433925
C006780	bisphenol A	bisphenol A results in decreased expression of LRP4 mRNA	25181051; 30816183;
D002117	Calcitriol	Calcitriol results in decreased expression of LRP4 mRNA	26485663
D002220	Carbamazepine	Carbamazepine affects the expression of LRP4 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of LRP4 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of LRP4 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of LRP4 mRNA]	31150632
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of LRP4 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of LRP4 mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of LRP4 mRNA	24386269
C029892	cupric chloride	cupric chloride results in decreased expression of LRP4 mRNA	24650576
D003471	Cuprizone	Cuprizone results in decreased expression of LRP4 mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of LRP4 mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in decreased expression of LRP4 mRNA	19770486
C000944	dicrotophos	dicrotophos results in increased expression of LRP4 mRNA	28302478
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in increased expression of LRP4 mRNA	28433925
D004041	Dietary Fats	Dietary Fats results in increased expression of LRP4 mRNA	30120929
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in increased expression of LRP4 mRNA	28433925
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of LRP4 mRNA	31163220
D004051	Diethylhexyl Phthalate	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in increased expression of LRP4 mRNA	28433925
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of LRP4 mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LRP4 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 increased expression of LRP4 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LRP4 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of LRP4 mRNA	20660070
D000431	Ethanol	Ethanol results in increased expression of LRP4 mRNA	28986285
D000431	Ethanol	Ethanol results in increased expression of LRP4 mRNA	30319688
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of LRP4 mRNA	28189721
D017313	Fenretinide	Fenretinide results in increased expression of LRP4 mRNA	28973697
D019833	Genistein	Genistein results in increased expression of LRP4 mRNA	17341692
C089796	hexabromocyclododecane	hexabromocyclododecane affects the expression of LRP4 mRNA	24680724
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of LRP4 mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of LRP4 mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in decreased expression of LRP4 mRNA	30851411
C008261	lead acetate	lead acetate results in increased expression of LRP4 mRNA	20542052
D000077339	Leflunomide	Leflunomide results in increased expression of LRP4 mRNA	28988120
D008344	Maneb	[Paraquat co-treated with Maneb] affects the expression of LRP4 mRNA	22563483
D008694	Methamphetamine	Methamphetamine results in decreased expression of LRP4 mRNA	29802913
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of LRP4 mRNA	20864626
D008777	Methyltestosterone	Methyltestosterone results in increased expression of LRP4 mRNA	29191790
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of LRP4 mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in decreased expression of LRP4 mRNA	24768652
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of LRP4 mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of LRP4 mRNA	30529165
D010269	Paraquat	[Paraquat co-treated with Maneb] affects the expression of LRP4 mRNA	22563483
D010269	Paraquat	Paraquat results in increased expression of LRP4 mRNA	22563483
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of LRP4 mRNA	16221955
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of LRP4 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of LRP4 mRNA	18301758; 23811191;
D010936	Plant Extracts	Plant Extracts results in decreased expression of LRP4 mRNA	23557933
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of LRP4 mRNA	20660070
D011441	Propylthiouracil	Propylthiouracil results in increased expression of LRP4 mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of LRP4 mRNA	27029645
C428725	pyridaben	pyridaben results in increased expression of LRP4 mRNA	22563483
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of LRP4 mRNA]	31150632
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of LRP4 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in increased expression of LRP4 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of LRP4 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of LRP4 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of LRP4 mRNA	16214954
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in increased expression of LRP4 mRNA	28433925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of LRP4 mRNA	18796159; 19770486; 19933214; 21889950; 25270620; 25975270; 26290441; 28922406;
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of LRP4 mRNA	25975270
D013752	Tetracycline	Tetracycline results in decreased expression of LRP4 mRNA	16917069
D019284	Thapsigargin	Thapsigargin results in decreased expression of LRP4 mRNA	22378314
C009495	titanium dioxide	titanium dioxide results in increased expression of LRP4 mRNA	23557971
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of LRP4 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of LRP4 mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of LRP4 mRNA	20488242
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LRP4 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of LRP4 mRNA	24935251; 26272509;
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of LRP4 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of LRP4 mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in decreased expression of LRP4 mRNA	22378314
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 increased expression of LRP4 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of LRP4 mRNA	23179753; 24935251; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of LRP4 gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of LRP4 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of LRP4 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0106	Calcium
KW-1003	Cell membrane
KW-1004	Congenital myasthenic syndrome
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0245	EGF-like domain
KW-0254	Endocytosis
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR011042	6-blade_b-propeller_TolB-like
IPR026823	cEGF
IPR001881	EGF-like_Ca-bd_dom
IPR013032	EGF-like_CS
IPR000742	EGF-like_dom
IPR000152	EGF-type_Asp/Asn_hydroxyl_site
IPR018097	EGF_Ca-bd_CS
IPR009030	Growth_fac_rcpt_cys_sf
IPR036055	LDL_receptor-like_sf
IPR023415	LDLR_class-A_CS
IPR000033	LDLR_classB_rpt
IPR002172	LDrepeatLR_classA_rpt

PROSITE

PROSITE ID	PROSITE Term
PS00010	ASX_HYDROXYL
PS01186	EGF_2
PS01187	EGF_CA
PS01209	LDLRA_1
PS50068	LDLRA_2
PS51120	LDLRB

Pfam

Pfam ID	Pfam Term
PF12662	cEGF
PF00057	Ldl_recept_a
PF00058	Ldl_recept_b

Gene: LRP4

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction