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"coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "XM_005249447.4:c.138G>A" ], "proteinEffect": { "hgvs": "XP_005249504.1:p.Trp46Ter", "hgvsWellDefined": 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"XP_011513238.1:p.Trp29_Ser321delinsAlaAlaLeuHisArgArgAlaLysAspCysAlaSerAlaGlyGluLeuValAspSerGluValValMetLeuSerAlaHisTrpGluLysLysLysThrSerLeuValGluLeuGlnGluGlnLeuGlnGlnLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543528" }, { "@id": "http://reg.genome.network/allele/PA273068", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_032122.5:c.177G>A" ], "proteinEffect": { "hgvs": "NP_115498.2:p.Trp59Ter", "hgvsWellDefined": "NP_115498.2:p.Trp59_Ser351delinsAlaAlaLeuHisArgArgAlaLysAspCysAlaSerAlaGlyGluLeuValAspSerGluValValMetLeuSerAlaHisTrpGluLysLysLysThrSerLeuValGluLeuGlnGluGlnLeuGlnGlnLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699033", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344537.10:c.177G>A" }, "RefSeq": { "hgvs": "NM_032122.5:c.177G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341680.6:p.Trp59Ter" }, "RefSeq": { "hgvs": "NP_115498.2:p.Trp59Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NR_036448.2:n.475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702206" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271667.2:c.-67G>A" ], "proteinEffect": { "hgvs": "NP_001258596.1:n.-67G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715264" }, { "@id": "http://reg.genome.network/allele/PA2826530335", "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271668.2:c.126G>A" ], "proteinEffect": { "hgvs": "NP_001258597.1:p.Trp42Ter", "hgvsWellDefined": "NP_001258597.1:p.Trp42_Ser334delinsAlaAlaLeuHisArgArgAlaLysAspCysAlaSerAlaGlyGluLeuValAspSerGluValValMetLeuSerAlaHisTrpGluLysLysLysThrSerLeuValGluLeuGlnGluGlnLeuGlnGlnLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715265" }, { "@id": "http://reg.genome.network/allele/PA2826530640", "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "G", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NM_001271669.2:c.72G>A" ], "proteinEffect": { "hgvs": "NP_001258598.1:p.Trp24Ter", "hgvsWellDefined": "NP_001258598.1:p.Trp24_Ser316delinsAlaAlaLeuHisArgArgAlaLysAspCysAlaSerAlaGlyGluLeuValAspSerGluValValMetLeuSerAlaHisTrpGluLysLysLysThrSerLeuValGluLeuGlnGluGlnLeuGlnGlnLeuProAlaLeuIleAlaAspLeuGluSerMetThrAlaAsnLeuThrHisLeuGluAlaSerPheGluGluValGluAsnAsnLeuLeuHisLeuGluAspLeuCysGlyGlnCysGluLeuGluArgCysLysHisMetGlnSerGlnGlnLeuGluAsnTyrLysLysAsnLysArgLysGluLeuGluThrPheLysAlaGluLeuAspAlaGluHisAlaGlnLysValLeuGluMetGluHisThrGlnGlnMetLysLeuLysGluArgGlnLysPhePheGluGluAlaPheGlnGlnAspMetGluGlnTyrLeuSerThrGlyTyrLeuGlnIleAlaGluArgArgGluProIleGlySerMetSerSerMetGluValAsnValAspMetLeuGluGlnMetAspLeuMetAspIleSerAspGlnGluAlaLeuAspValPheLeuAsnSerGlyGlyGluGluAsnThrValLeuSerProAlaLeuGlyProGluSerSerThrCysGlnAsnGluIleThrLeuGlnValProAsnProSerGluLeuArgAlaLysProProSerSerSerSerThrCysThrAspSerAlaThrArgAspIleSerGluGlyGlyGluSerProValValGlnSerAspGluGluGluValGlnValAspThrAlaLeuAlaThrSerHisThrAspArgGluAlaThrProAspGlyGlyGluAspSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715266" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN017328", "geneNCBI_id": 84062, "geneSymbol": "DTNBP1", "hgvs": [ "NR_036448.3:n.475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730330" } ], "type": "nucleotide" }