{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374115358", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2198C>A (p.Ser733Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111488", "active": true, "id": "COSM1111488" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111489", "active": true, "id": "COSM1111489" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111491", "active": true, "id": "COSM1111491" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111492", "active": true, "id": "COSM1111492" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925670[alleleid]", "alleleId": 925670, "preferredName": "NM_000264.5(PTCH1):c.2198C>A (p.Ser733Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952866", "RCV": [ "RCV001225061" ], "variationId": 952866 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98231085G>T?assembly=hg19", "id": "chr9:g.98231085G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95468803G>T?assembly=hg38", "id": "chr9:g.95468803G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1311804361", "rs": 1311804361 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95468803, "referenceAllele": "G", "start": 95468802 } ], "hgvs": [ "NC_000009.12:g.95468803G>T", "CM000671.2:g.95468803G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98231085, "referenceAllele": "G", "start": 98231084 } ], "hgvs": [ "NC_000009.11:g.98231085G>T", "CM000671.1:g.98231085G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97270906, "referenceAllele": "G", "start": 97270905 } ], "hgvs": [ "NC_000009.10:g.97270906G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 53163, "referenceAllele": "C", "start": 53162 } ], "hgvs": [ "NG_007664.1:g.53163C>A", "LRG_515:g.53163C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2000C>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ser667Ter", "hgvsWellDefined": "ENSP00000518556.1:p.Ser668_Asn1381delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2195C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ser732Ter", "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.2195C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2195C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser732Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser732Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2021, "referenceAllele": "C", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*506C>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*506C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1745C>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ser582Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2198C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser733Ter", "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.2198C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2198C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser733Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser733Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2198C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser733Ter", "hgvsWellDefined": "ENSP00000332353.6:p.Ser734_Asn1447delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 2340, "referenceAllele": "C", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2195C>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ser732Ter", "hgvsWellDefined": "ENSP00000364423.2:p.Ser733_Asn1446delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 1967, "referenceAllele": "C", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1967C>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.1967C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1745C>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ser582Ter", "hgvsWellDefined": "ENSP00000396135.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "C", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1745C>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ser582Ter", "hgvsWellDefined": "ENSP00000399981.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "C", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1745C>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ser582Ter", "hgvsWellDefined": "ENSP00000414823.2:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2000C>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ser667Ter", "hgvsWellDefined": "ENSP00000410287.2:p.Ser668_Asn1381delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 2494, "referenceAllele": "C", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2000C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ser667Ter", "hgvsWellDefined": "ENSP00000389744.1:p.Ser668_Asn1381delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.387C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA1139678908", "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "C", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2198C>A", "LRG_515t1:c.2198C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser733Ter", "hgvsWellDefined": "NP_000255.2:p.Ser734_Asn1447delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489086", "coordinates": [ { "allele": "A", "end": 2494, "referenceAllele": "C", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2000C>A", "LRG_515t2:c.2000C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser667Ter", "hgvsWellDefined": "NP_001077071.1:p.Ser668_Asn1381delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495343", "coordinates": [ { "allele": "A", "end": 2340, "referenceAllele": "C", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2195C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser732Ter", "hgvsWellDefined": "NP_001077072.1:p.Ser733_Asn1446delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502489", "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "C", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077073.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507036", "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "C", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077074.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510032", "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "C", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077075.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512901", "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077076.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "G", "start": 740 } ], "hgvs": [ "NR_038982.1:n.741G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1745C>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ser582Ter", "hgvsWellDefined": "XP_005252159.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 2242, "referenceAllele": "C", "start": 2241 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2042C>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ser681Ter", "hgvsWellDefined": "XP_011517170.1:p.Ser682_Asn1395delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1745C>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ser582Ter", "hgvsWellDefined": "XP_011517171.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "C", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1745C>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ser582Ter", "hgvsWellDefined": "XP_011517172.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 1868, "referenceAllele": "C", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1745C>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ser582Ter", "hgvsWellDefined": "XP_011517173.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1745C>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ser582Ter", "hgvsWellDefined": "XP_011517174.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1358C>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ser453Ter", "hgvsWellDefined": "XP_011517175.1:p.Ser454_Asn1167delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 2398, "referenceAllele": "C", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2198C>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ser733Ter", "hgvsWellDefined": "XP_011517176.1:p.Ser734_Ala1156delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA1139678908", "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "C", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2198C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser733Ter", "hgvsWellDefined": "NP_000255.2:p.Ser734_Asn1447delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489086", "coordinates": [ { "allele": "A", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2000C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser667Ter", "hgvsWellDefined": "NP_001077071.1:p.Ser668_Asn1381delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495343", "coordinates": [ { "allele": "A", "end": 2340, "referenceAllele": "C", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2195C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser732Ter", "hgvsWellDefined": "NP_001077072.1:p.Ser733_Asn1446delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502489", "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "C", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077073.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507036", "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "C", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077074.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510032", "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "C", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077075.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512901", "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077076.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033205", "coordinates": [ { "allele": "A", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2042C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser681Ter", "hgvsWellDefined": "NP_001341847.1:p.Ser682_Asn1395delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "C", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2386C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA1139678908", "coordinates": [ { "allele": "A", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2198C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser733Ter", "hgvsWellDefined": "NP_000255.2:p.Ser734_Asn1447delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2198C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2198C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser733Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser733Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510032", "coordinates": [ { "allele": "A", "end": 2196, "referenceAllele": "C", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077075.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033205", "coordinates": [ { "allele": "A", "end": 2947, "referenceAllele": "C", "start": 2946 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2042C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser681Ter", "hgvsWellDefined": "NP_001341847.1:p.Ser682_Asn1395delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3103, "referenceAllele": "C", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3103C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489086", "coordinates": [ { "allele": "A", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2000C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser667Ter", "hgvsWellDefined": "NP_001077071.1:p.Ser668_Asn1381delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495343", "coordinates": [ { "allele": "A", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2195C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser732Ter", "hgvsWellDefined": "NP_001077072.1:p.Ser733_Asn1446delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2195C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2195C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser732Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser732Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502489", "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "C", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077073.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507036", "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "C", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077074.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512901", "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1745C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser582Ter", "hgvsWellDefined": "NP_001077076.1:p.Ser583_Asn1296delinsPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgTyrPhePheAlaValLeuAlaIleLeuThrIleLeuGlyValLeuAsnGlyLeuValLeuLeuProValLeuLeuSerPhePheGlyProTyrProGluValSerProAlaAsnGlyLeuAsnArgLeuProThrProSerProGluProProProSerValValArgPheAlaMetProProGlyHisThrHisSerGlySerAspSerSerAspSerGluTyrSerSerGlnThrThrValSerGlyLeuSerGluGluLeuArgHisTyrGluAlaGlnGlnGlyAlaGlyGlyProAlaHisGlnValIleValGluAlaThrGluAsnProValPheAlaHisSerThrValValHisProGluSerArgHisHisProProSerAsnProArgGlnGlnProHisLeuAspSerGlySerLeuProProGlyArgGlnGlyGlnGlnProArgArgAspProProArgGluGlyLeuTrpProProProTyrArgProArgArgAspAlaPheGluIleSerThrGluGlyHisSerGlyProSerAsnArgAlaArgTrpGlyProArgGlyAlaArgSerHisAsnProArgAsnProAlaSerThrAlaMetGlySerSerValProGlyTyrCysGlnProIleThrThrValThrAlaSerAlaSerValThrValAlaValHisProProProValProGlyProGlyArgAsnProArgGlyGlyLeuCysProGlyTyrProGluThrAspHisGlyLeuPheGluAspProHisValProPheHisValArgCysGluArgArgAspSerLysValGluValIleGluLeuGlnAspValGluCysGluGluArgProArgGlySerSerSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }