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"XP_006721931.1:p.Trp1566_Thr1840delinsGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540402" }, { "coordinates": [ { "allele": "A", "end": 4634, "referenceAllele": "G", "start": 4633 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.3:c.4538G>A" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Trp1513Ter", "hgvsWellDefined": "XP_006721933.1:p.Trp1513_Thr1787delinsGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540403" }, { "coordinates": [ { "allele": "A", "end": 4767, "endIntronDirection": "-", "endIntronOffset": 643, "referenceAllele": "G", "start": 4767, "startIntronDirection": "-", "startIntronOffset": 644 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.2:c.4664-644G>A" ], "proteinEffect": { "hgvs": "XP_011523053.1:n.4664-644G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547579" }, { "coordinates": [ { "allele": "A", "end": 3296, "referenceAllele": "G", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524752.2:c.2747G>A" ], "proteinEffect": { "hgvs": "XP_011523054.1:p.Trp916Ter", "hgvsWellDefined": "XP_011523054.1:p.Trp916_Thr1190delinsGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547580" }, { "@id": "http://reg.genome.network/allele/PA257306", "coordinates": [ { "allele": "A", "end": 4807, "referenceAllele": "G", "start": 4806 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.5:c.4643G>A" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Trp1548Ter", "hgvsWellDefined": "NP_000204.3:p.Trp1548_Thr1822delinsGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.4643G>A" }, "RefSeq": { "hgvs": "NM_000213.5:c.4643G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Trp1548Ter" }, "RefSeq": { "hgvs": "NP_000204.3:p.Trp1548Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA257304", "coordinates": [ { "allele": "A", "end": 4597, "referenceAllele": "G", "start": 4596 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.3:c.4433G>A" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Trp1478Ter", "hgvsWellDefined": "NP_001005731.1:p.Trp1478_Thr1752delinsGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675206" }, { "@id": "http://reg.genome.network/allele/PA2827077269", "coordinates": [ { "allele": "A", "end": 4548, "referenceAllele": "G", "start": 4547 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.2:c.4433G>A" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Trp1478Ter", "hgvsWellDefined": "NP_001308052.1:p.Trp1478_Thr1752delinsGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685213" }, { "coordinates": [ { "allele": "T", "end": 1257, "endIntronDirection": "+", "endIntronOffset": 2249, "referenceAllele": "C", "start": 1257, "startIntronDirection": "+", "startIntronOffset": 2248 } ], "gene": "http://reg.genome.network/gene/GN004118", "geneNCBI_id": 2584, "geneSymbol": "GALK1", "hgvs": [ "NM_001381985.1:c.*22+2249C>T" ], "proteinEffect": { "hgvs": "NP_001368914.1:n.*22+2249C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS722163" } ], "type": "nucleotide" }