{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374115762", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2050G>T (p.Glu684Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=29055", "active": true, "id": "COSM29055" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2074354[alleleid]", "alleleId": 2074354, "preferredName": "NM_000264.5(PTCH1):c.2050G>T (p.Glu684Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2011280", "RCV": [ "RCV002829381" ], "variationId": 2011280 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98231233C>A?assembly=hg19", "id": "chr9:g.98231233C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95468951C>A?assembly=hg38", "id": "chr9:g.95468951C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/62637629", "rs": 62637629 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95468951, "referenceAllele": "C", "start": 95468950 } ], "hgvs": [ "NC_000009.12:g.95468951C>A", "CM000671.2:g.95468951C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98231233, "referenceAllele": "C", "start": 98231232 } ], "hgvs": [ "NC_000009.11:g.98231233C>A", "CM000671.1:g.98231233C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97271054, "referenceAllele": "C", "start": 97271053 } ], "hgvs": [ "NC_000009.10:g.97271054C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 53015, "referenceAllele": "G", "start": 53014 } ], "hgvs": [ "NG_007664.1:g.53015G>T", "LRG_515:g.53015G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "G", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1852G>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Glu618Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2047G>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Glu683Ter", "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.2047G>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2047G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Glu683Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Glu683Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1873, "referenceAllele": "G", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*358G>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*358G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1597G>T" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 2955, "referenceAllele": "G", "start": 2954 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2050G>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Glu684Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2050G>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.2050G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Glu684Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Glu684Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2350, "referenceAllele": "G", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2050G>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Glu684Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.1045G>T" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Glu349Ter", "hgvsWellDefined": "ENSP00000364420.4:p.Glu349Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "G", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2047G>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Glu683Ter", "hgvsWellDefined": "ENSP00000364423.2:p.Glu683_Asn1446delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 1819, "referenceAllele": "G", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1819G>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.1819G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1597G>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Glu533Ter", "hgvsWellDefined": "ENSP00000396135.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1597G>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Glu533Ter", "hgvsWellDefined": "ENSP00000399981.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 2038, "referenceAllele": "G", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1597G>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Glu533Ter", "hgvsWellDefined": "ENSP00000414823.2:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 2438, "referenceAllele": "G", "start": 2437 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1852G>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Glu618Ter", "hgvsWellDefined": "ENSP00000410287.2:p.Glu618_Asn1381delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "G", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1852G>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Glu618Ter", "hgvsWellDefined": "ENSP00000389744.1:p.Glu618_Asn1381delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "G", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA2580108416", "coordinates": [ { "allele": "T", "end": 2238, "referenceAllele": "G", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2050G>T", "LRG_515t1:c.2050G>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu684Ter", "hgvsWellDefined": "NP_000255.2:p.Glu684_Asn1447delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825486956", "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "G", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1852G>T", "LRG_515t2:c.1852G>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu618Ter", "hgvsWellDefined": "NP_001077071.1:p.Glu618_Asn1381delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495015", "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "G", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2047G>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu683Ter", "hgvsWellDefined": "NP_001077072.1:p.Glu683_Asn1446delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502217", "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077073.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506897", "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077074.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509895", "coordinates": [ { "allele": "T", "end": 2038, "referenceAllele": "G", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077075.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512763", "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077076.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "C", "start": 888 } ], "hgvs": [ "NR_038982.1:n.889C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "T", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1597G>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Glu533Ter", "hgvsWellDefined": "XP_005252159.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "G", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1894G>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Glu632Ter", "hgvsWellDefined": "XP_011517170.1:p.Glu632_Asn1395delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 1745, "referenceAllele": "G", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1597G>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Glu533Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 1733, "referenceAllele": "G", "start": 1732 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1597G>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Glu533Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1597G>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Glu533Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 1703, "referenceAllele": "G", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1597G>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Glu533Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1210G>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Glu404Ter", "hgvsWellDefined": "XP_011517175.1:p.Glu404_Asn1167delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "T", "end": 2250, "referenceAllele": "G", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2050G>T" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Glu684Ter", "hgvsWellDefined": "XP_011517176.1:p.Glu684_Ala1156delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2580108416", "coordinates": [ { "allele": "T", "end": 2238, "referenceAllele": "G", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2050G>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu684Ter", "hgvsWellDefined": "NP_000255.2:p.Glu684_Asn1447delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825486956", "coordinates": [ { "allele": "T", "end": 2438, "referenceAllele": "G", "start": 2437 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1852G>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu618Ter", "hgvsWellDefined": "NP_001077071.1:p.Glu618_Asn1381delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495015", "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "G", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2047G>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu683Ter", "hgvsWellDefined": "NP_001077072.1:p.Glu683_Asn1446delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502217", "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077073.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506897", "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077074.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509895", "coordinates": [ { "allele": "T", "end": 2038, "referenceAllele": "G", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077075.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512763", "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077076.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033016", "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "G", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1894G>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Glu632Ter", "hgvsWellDefined": "NP_001341847.1:p.Glu632_Asn1395delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 2238, "referenceAllele": "G", "start": 2237 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2238G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2580108416", "coordinates": [ { "allele": "T", "end": 2955, "referenceAllele": "G", "start": 2954 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2050G>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu684Ter", "hgvsWellDefined": "NP_000255.2:p.Glu684_Asn1447delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2050G>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.2050G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Glu684Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Glu684Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509895", "coordinates": [ { "allele": "T", "end": 2048, "referenceAllele": "G", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077075.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033016", "coordinates": [ { "allele": "T", "end": 2799, "referenceAllele": "G", "start": 2798 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1894G>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Glu632Ter", "hgvsWellDefined": "NP_001341847.1:p.Glu632_Asn1395delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 2955, "referenceAllele": "G", "start": 2954 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2955G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825486956", "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "G", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1852G>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu618Ter", "hgvsWellDefined": "NP_001077071.1:p.Glu618_Asn1381delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495015", "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2047G>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu683Ter", "hgvsWellDefined": "NP_001077072.1:p.Glu683_Asn1446delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2047G>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2047G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Glu683Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Glu683Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502217", "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077073.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506897", "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "G", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077074.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512763", "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "G", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu533Ter", "hgvsWellDefined": "NP_001077076.1:p.Glu533_Asn1296delinsIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }