{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374119242", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3909217", "active": true, "id": "COSM3909217" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3909218", "active": true, "id": "COSM3909218" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3909219", "active": true, "id": "COSM3909219" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3909220", "active": true, "id": "COSM3909220" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638556[alleleid]", "alleleId": 638556, "preferredName": "NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/654759", "RCV": [ "RCV000810777" ], "variationId": 654759 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98241299G>A?assembly=hg19", "id": "chr9:g.98241299G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95479017G>A?assembly=hg38", "id": "chr9:g.95479017G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1588605348", "rs": 1588605348 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95479017, "referenceAllele": "G", "start": 95479016 } ], "hgvs": [ "NC_000009.12:g.95479017G>A", "CM000671.2:g.95479017G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98241299, "referenceAllele": "G", "start": 98241298 } ], "hgvs": [ "NC_000009.11:g.98241299G>A", "CM000671.1:g.98241299G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97281120, "referenceAllele": "G", "start": 97281119 } ], "hgvs": [ "NC_000009.10:g.97281120G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 42949, "referenceAllele": "C", "start": 42948 } ], "hgvs": [ "NG_007664.1:g.42949C>T", "LRG_515:g.42949C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Gln334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1195C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Gln399Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1195C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1195C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Gln399Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Gln399Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Gln249Ter", "hgvsWellDefined": "ENSP00000509379.1:p.Gln249_Glu456delinsArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnTyrIleLeuMetAlaHisArgGlyArgLeuSerPheAsnAspThrLeuTrpCysGlyGlyLeuLysSerTyrMetArgPheProTyrGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 2103, "referenceAllele": "C", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1198C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Gln400Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1198C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1198C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Gln400Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Gln400Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "C", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1198C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Gln400Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Gln117Ter", "hgvsWellDefined": "ENSP00000364420.4:p.Gln117Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1195C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Gln399Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Gln279Ter", "hgvsWellDefined": "ENSP00000364439.2:p.Gln279_Glu486delinsArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnTyrIleLeuMetAlaHisArgGlyArgLeuSerPheAsnAspThrLeuTrpCysGlyGlyLeuLysSerTyrMetArgPheProTyrGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.745C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 1586, "referenceAllele": "C", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Gln334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "C", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Gln334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1198C>T", "LRG_515t1:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gln400Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "coordinates": [ { "allele": "T", "end": 1494, "referenceAllele": "C", "start": 1493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1000C>T", "LRG_515t2:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gln334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1195C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gln399Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 944, "referenceAllele": "C", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.745C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1198C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Gln400Ter", "hgvsWellDefined": "XP_011517170.1:p.Gln400_Asn1395delinsArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnAlaAlaValValValValPheAsnPheAlaMetValLeuLeuIlePheProAlaIleLeuSerMetAspLeuTyrArgArgGluAspArgArgLeuAspIlePheCysCysPheThrSerProCysValSerArgValIleGlnValGluProGlnAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.745C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.745C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.745C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.745C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.358C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Gln120Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1198C>T" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Gln400Ter", "hgvsWellDefined": "XP_011517176.1:p.Gln400_Ala1156delinsArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnAlaAlaValValValValPheAsnPheAlaMetValLeuLeuIlePheProAlaIleLeuSerMetAspLeuTyrArgArgGluAspArgArgLeuAspIlePheCysCysPheThrSerProCysValSerArgValIleGlnValGluProGlnAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gln400Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "coordinates": [ { "allele": "T", "end": 1586, "referenceAllele": "C", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gln334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1195C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gln399Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA916042913", "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Gln400Ter", "hgvsWellDefined": "NP_001341847.1:p.Gln400_Asn1395delinsArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnAlaAlaValValValValPheAsnPheAlaMetValLeuLeuIlePheProAlaIleLeuSerMetAspLeuTyrArgArgGluAspArgArgLeuAspIlePheCysCysPheThrSerProCysValSerArgValIleGlnValGluProGlnAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "coordinates": [ { "allele": "T", "end": 2103, "referenceAllele": "C", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gln400Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1198C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1198C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Gln400Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Gln400Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA916042913", "coordinates": [ { "allele": "T", "end": 2103, "referenceAllele": "C", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Gln400Ter", "hgvsWellDefined": "NP_001341847.1:p.Gln400_Asn1395delinsArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnAlaAlaValValValValPheAsnPheAlaMetValLeuLeuIlePheProAlaIleLeuSerMetAspLeuTyrArgArgGluAspArgArgLeuAspIlePheCysCysPheThrSerProCysValSerArgValIleGlnValGluProGlnAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 2103, "referenceAllele": "C", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "coordinates": [ { "allele": "T", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gln334Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1195C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gln399Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1195C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1195C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Gln399Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Gln399Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.745C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gln249Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }