{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129070479", "communityStandardTitle": [ "NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324125[alleleid]", "alleleId": 1324125, "preferredName": "NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333351", "RCV": [ "RCV001808039" ], "variationId": 1333351 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149452877T>A?assembly=hg19", "id": "chr5:g.149452877T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.150073314T>A?assembly=hg38", "id": "chr5:g.150073314T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767475362", "rs": 767475362 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 150073314, "referenceAllele": "T", "start": 150073313 } ], "hgvs": [ "NC_000005.10:g.150073314T>A", "CM000667.2:g.150073314T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149452877, "referenceAllele": "T", "start": 149452876 } ], "hgvs": [ "NC_000005.9:g.149452877T>A", "CM000667.1:g.149452877T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149433070, "referenceAllele": "T", "start": 149433069 } ], "hgvs": [ "NC_000005.8:g.149433070T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 45059, "referenceAllele": "A", "start": 45058 } ], "hgvs": [ "NG_012303.1:g.45059A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002361" }, { "coordinates": [ { "allele": "T", "end": 45059, "referenceAllele": "A", "start": 45058 } ], "hgvs": [ "NG_012303.2:g.45059A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673594" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "A", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "ENST00000675795.1:c.1069A>T" ], "proteinEffect": { "hgvs": "ENSP00000501699.1:p.Lys357Ter", "hgvsWellDefined": "ENSP00000501699.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775566", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675795.1:c.1069A>T" }, "RefSeq": { "hgvs": "NM_001288705.3:c.1069A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501699.1:p.Lys357Ter" }, "RefSeq": { "hgvs": "NP_001275634.1:p.Lys357Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "A", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "ENST00000286301.7:c.1069A>T" ], "proteinEffect": { "hgvs": "ENSP00000286301.3:p.Lys357Ter", "hgvsWellDefined": "ENSP00000286301.3:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253353" }, { "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "A", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "ENST00000504875.5:c.1069A>T" ], "proteinEffect": { "hgvs": "ENSP00000422212.1:p.Lys357Ter", "hgvsWellDefined": "ENSP00000422212.1:p.Lys357_Arg671delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyThrValAlaSerProAlaArgValTrpThrProMetTrpArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336812" }, { "coordinates": [ { "allele": "T", "end": 889, "endIntronDirection": "-", "endIntronOffset": 2742, "referenceAllele": "A", "start": 889, "startIntronDirection": "-", "startIntronOffset": 2743 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "ENST00000543093.1:c.890-2743A>T" ], "proteinEffect": { "hgvs": "ENSP00000445282.1:n.890-2743A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS363821" }, { "@id": "http://reg.genome.network/allele/PA2826712680", "coordinates": [ { "allele": "T", "end": 1282, "referenceAllele": "A", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001288705.1:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_001275634.1:p.Lys357Ter", "hgvsWellDefined": "NP_001275634.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023539" }, { "@id": "http://reg.genome.network/allele/PA2573086866", "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "A", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_005211.3:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_005202.2:p.Lys357Ter", "hgvsWellDefined": "NP_005202.2:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030323" }, { "coordinates": [ { "allele": "T", "end": 1282, "referenceAllele": "A", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NR_109969.1:n.1282A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054258" }, { "@id": "http://reg.genome.network/allele/PA2826712680", "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "A", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001288705.2:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_001275634.1:p.Lys357Ter", "hgvsWellDefined": "NP_001275634.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512222" }, { "@id": "http://reg.genome.network/allele/PA2827510808", "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "A", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001349736.1:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_001336665.1:p.Lys357Ter", "hgvsWellDefined": "NP_001336665.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518911" }, { "@id": "http://reg.genome.network/allele/PA2826712680", "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "A", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001288705.3:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_001275634.1:p.Lys357Ter", "hgvsWellDefined": "NP_001275634.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682488", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675795.1:c.1069A>T" }, "RefSeq": { "hgvs": "NM_001288705.3:c.1069A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501699.1:p.Lys357Ter" }, "RefSeq": { "hgvs": "NP_001275634.1:p.Lys357Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828578704", "coordinates": [ { "allele": "T", "end": 1459, "referenceAllele": "A", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001375320.1:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_001362249.1:p.Lys357Ter", "hgvsWellDefined": "NP_001362249.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693467" }, { "@id": "http://reg.genome.network/allele/PA2828579148", "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "A", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001375321.1:c.625A>T" ], "proteinEffect": { "hgvs": "NP_001362250.1:p.Lys209Ter", "hgvsWellDefined": "NP_001362250.1:p.Lys209_Cys824delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693468" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "A", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NR_164679.1:n.1125A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705772" }, { "@id": "http://reg.genome.network/allele/PA2827510808", "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "A", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_001349736.2:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_001336665.1:p.Lys357Ter", "hgvsWellDefined": "NP_001336665.1:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719418" }, { "@id": "http://reg.genome.network/allele/PA2573086866", "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "A", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NM_005211.4:c.1069A>T" ], "proteinEffect": { "hgvs": "NP_005202.2:p.Lys357Ter", "hgvsWellDefined": "NP_005202.2:p.Lys357_Cys972delinsAspThrTyrArgHisThrPheThrLeuSerLeuProArgLeuLysProSerGluAlaGlyArgTyrSerPheLeuAlaArgAsnProGlyGlyTrpArgAlaLeuThrPheGluLeuThrLeuArgTyrProProGluValSerValIleTrpThrPheIleAsnGlySerGlyThrLeuLeuCysAlaAlaSerGlyTyrProGlnProAsnValThrTrpLeuGlnCysSerGlyHisThrAspArgCysAspGluAlaGlnValLeuGlnValTrpAspAspProTyrProGluValLeuSerGlnGluProPheHisLysValThrValGlnSerLeuLeuThrValGluThrLeuGluHisAsnGlnThrTyrGluCysArgAlaHisAsnSerValGlySerGlySerTrpAlaPheIleProIleSerAlaGlyAlaHisThrHisProProAspGluPheLeuPheThrProValValValAlaCysMetSerIleMetAlaLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuTyrLysTyrLysGlnLysProLysTyrGlnValArgTrpLysIleIleGluSerTyrGluGlyAsnSerTyrThrPheIleAspProThrGlnLeuProTyrAsnGluLysTrpGluPheProArgAsnAsnLeuGlnPheGlyLysThrLeuGlyAlaGlyAlaPheGlyLysValValGluAlaThrAlaPheGlyLeuGlyLysGluAspAlaValLeuLysValAlaValLysMetLeuLysSerThrAlaHisAlaAspGluLysGluAlaLeuMetSerGluLeuLysIleMetSerHisLeuGlyGlnHisGluAsnIleValAsnLeuLeuGlyAlaCysThrHisGlyGlyProValLeuValIleThrGluTyrCysCysTyrGlyAspLeuLeuAsnPheLeuArgArgLysAlaGluAlaMetLeuGlyProSerLeuSerProGlyGlnAspProGluGlyGlyValAspTyrLysAsnIleHisLeuGluLysLysTyrValArgArgAspSerGlyPheSerSerGlnGlyValAspThrTyrValGluMetArgProValSerThrSerSerAsnAspSerPheSerGluGlnAspLeuAspLysGluAspGlyArgProLeuGluLeuArgAspLeuLeuHisPheSerSerGlnValAlaGlnGlyMetAlaPheLeuAlaSerLysAsnCysIleHisArgAspValAlaAlaArgAsnValLeuLeuThrAsnGlyHisValAlaLysIleGlyAspPheGlyLeuAlaArgAspIleMetAsnAspSerAsnTyrIleValLysGlyAsnAlaArgLeuProValLysTrpMetAlaProGluSerIlePheAspCysValTyrThrValGlnSerAspValTrpSerTyrGlyIleLeuLeuTrpGluIlePheSerLeuGlyLeuAsnProTyrProGlyIleLeuValAsnSerLysPheTyrLysLeuValLysAspGlyTyrGlnMetAlaGlnProAlaPheAlaProLysAsnIleTyrSerIleMetGlnAlaCysTrpAlaLeuGluProThrHisArgProThrPheGlnGlnIleCysSerPheLeuGlnGluGlnAlaGlnGluAspArgArgGluArgAspTyrThrAsnLeuProSerSerSerArgSerGlyGlySerGlySerSerSerSerGluLeuGluGluGluSerSerSerGluHisLeuThrCysCysGluGlnGlyAspIleAlaGlnProLeuLeuGlnProAsnAsnTyrGlnPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727600" }, { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "A", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN002433", "geneNCBI_id": 1436, "geneSymbol": "CSF1R", "hgvs": [ "NR_109969.2:n.1196A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730686" } ], "type": "nucleotide" }