{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16612768", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397217[alleleid]", "alleleId": 397217, "preferredName": "NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409151", "RCV": [ "RCV000470850" ], "variationId": 409151 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98231401G>A?assembly=hg19", "id": "chr9:g.98231401G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95469119G>A?assembly=hg38", "id": "chr9:g.95469119G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502274", "rs": 1060502274 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95469119, "referenceAllele": "G", "start": 95469118 } ], "hgvs": [ "NC_000009.12:g.95469119G>A", "CM000671.2:g.95469119G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98231401, "referenceAllele": "G", "start": 98231400 } ], "hgvs": [ "NC_000009.11:g.98231401G>A", "CM000671.1:g.98231401G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97271222, "referenceAllele": "G", "start": 97271221 } ], "hgvs": [ "NC_000009.10:g.97271222G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 52847, "referenceAllele": "C", "start": 52846 } ], "hgvs": [ "NG_007664.1:g.52847C>T", "LRG_515:g.52847C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2184, "referenceAllele": "C", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1684C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Gln562Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 2030, "referenceAllele": "C", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1879C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Gln627Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1879C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1879C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Gln627Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Gln627Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1705, "referenceAllele": "C", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*190C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1429C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Gln477Ter", "hgvsWellDefined": "ENSP00000510238.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 2787, "referenceAllele": "C", "start": 2786 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1882C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Gln628Ter", "hgvsWellDefined": "ENSP00000332353.6:p.Gln628_Asn1447delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1882C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1882C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Gln628Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Gln628Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1882C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Gln628Ter", "hgvsWellDefined": "ENSP00000332353.6:p.Gln628_Asn1447delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Gln293Ter", "hgvsWellDefined": "ENSP00000364420.4:p.Gln293Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1879C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Gln627Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1651C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.1651C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1429C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Gln477Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1429C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Gln477Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 1870, "referenceAllele": "C", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1429C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Gln477Ter", "hgvsWellDefined": "ENSP00000414823.2:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 2270, "referenceAllele": "C", "start": 2269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1684C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Gln562Ter", "hgvsWellDefined": "ENSP00000410287.2:p.Gln562_Asn1381delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 2178, "referenceAllele": "C", "start": 2177 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1684C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Gln562Ter", "hgvsWellDefined": "ENSP00000389744.1:p.Gln562_Asn1381delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 71, "referenceAllele": "C", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.71C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA645505977", "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1882C>T", "LRG_515t1:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gln628Ter", "hgvsWellDefined": "NP_000255.2:p.Gln628_Asn1447delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825486909", "coordinates": [ { "allele": "T", "end": 2178, "referenceAllele": "C", "start": 2177 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1684C>T", "LRG_515t2:c.1684C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gln562Ter", "hgvsWellDefined": "NP_001077071.1:p.Gln562_Asn1381delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494707", "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1879C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gln627Ter", "hgvsWellDefined": "NP_001077072.1:p.Gln627_Asn1446delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825501863", "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077073.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506752", "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077074.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509749", "coordinates": [ { "allele": "T", "end": 1870, "referenceAllele": "C", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077075.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512617", "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077076.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "hgvs": [ "NR_038982.1:n.1057G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "C", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1429C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Gln477Ter", "hgvsWellDefined": "XP_005252159.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 1926, "referenceAllele": "C", "start": 1925 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1726C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Gln576Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 1577, "referenceAllele": "C", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1429C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Gln477Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1429C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Gln477Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1429C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Gln477Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1429C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Gln477Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1042C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Gln348Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "C", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1882C>T" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Gln628Ter", "hgvsWellDefined": "XP_011517176.1:p.Gln628_Ala1156delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645505977", "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gln628Ter", "hgvsWellDefined": "NP_000255.2:p.Gln628_Asn1447delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825486909", "coordinates": [ { "allele": "T", "end": 2270, "referenceAllele": "C", "start": 2269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1684C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gln562Ter", "hgvsWellDefined": "NP_001077071.1:p.Gln562_Asn1381delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494707", "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1879C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gln627Ter", "hgvsWellDefined": "NP_001077072.1:p.Gln627_Asn1446delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825501863", "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077073.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506752", "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077074.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509749", "coordinates": [ { "allele": "T", "end": 1870, "referenceAllele": "C", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077075.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512617", "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077076.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032771", "coordinates": [ { "allele": "T", "end": 1914, "referenceAllele": "C", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Gln576Ter", "hgvsWellDefined": "NP_001341847.1:p.Gln576_Asn1395delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2070C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645505977", "coordinates": [ { "allele": "T", "end": 2787, "referenceAllele": "C", "start": 2786 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1882C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gln628Ter", "hgvsWellDefined": "NP_000255.2:p.Gln628_Asn1447delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1882C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1882C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Gln628Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Gln628Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509749", "coordinates": [ { "allele": "T", "end": 1880, "referenceAllele": "C", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077075.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032771", "coordinates": [ { "allele": "T", "end": 2631, "referenceAllele": "C", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1726C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Gln576Ter", "hgvsWellDefined": "NP_001341847.1:p.Gln576_Asn1395delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 2787, "referenceAllele": "C", "start": 2786 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2787C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825486909", "coordinates": [ { "allele": "T", "end": 2184, "referenceAllele": "C", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1684C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gln562Ter", "hgvsWellDefined": "NP_001077071.1:p.Gln562_Asn1381delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494707", "coordinates": [ { "allele": "T", "end": 2030, "referenceAllele": "C", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1879C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gln627Ter", "hgvsWellDefined": "NP_001077072.1:p.Gln627_Asn1446delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1879C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1879C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Gln627Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Gln627Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825501863", "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077073.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506752", "coordinates": [ { "allele": "T", "end": 1771, "referenceAllele": "C", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077074.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512617", "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1429C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gln477Ter", "hgvsWellDefined": "NP_001077076.1:p.Gln477_Asn1296delinsAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }