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"XP_016868160.1:p.Arg78_Cys318delinsLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566216" }, { "coordinates": [ { "allele": "T", "end": 791, "endIntronDirection": "+", "endIntronOffset": 10594, "referenceAllele": "A", "start": 791, "startIntronDirection": "+", "startIntronOffset": 10593 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012672.2:c.93+10594A>T" ], "proteinEffect": { "hgvs": "XP_016868161.1:n.93+10594A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566217" }, { "coordinates": [ { "allele": "T", "end": 131, "endIntronDirection": "-", "endIntronOffset": 25526, "referenceAllele": "A", "start": 131, "startIntronDirection": "-", "startIntronOffset": 25527 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012673.1:c.31-25527A>T" ], "proteinEffect": { "hgvs": "XP_016868162.1:n.31-25527A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566218" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "A", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XR_428088.3:n.265A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606512" }, { "@id": "http://reg.genome.network/allele/PA2828086502", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "A", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363458.2:c.169A>T" ], "proteinEffect": { "hgvs": "NP_001350387.1:p.Arg57Ter", "hgvsWellDefined": "NP_001350387.1:p.Arg57_Ala485delinsLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690651" }, { "coordinates": [ { "allele": "T", "end": 163, "endIntronDirection": "-", "endIntronOffset": 25526, "referenceAllele": "A", "start": 163, "startIntronDirection": "-", "startIntronOffset": 25527 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363459.2:c.31-25527A>T" ], "proteinEffect": { "hgvs": "NP_001350388.1:n.31-25527A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690652" }, { "@id": "http://reg.genome.network/allele/PA2830059479", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "A", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_031443.4:c.169A>T" ], "proteinEffect": { "hgvs": "NP_113631.1:p.Arg57Ter", "hgvsWellDefined": "NP_113631.1:p.Arg57_Ala444delinsLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.169A>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.169A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Arg57Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Arg57Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "A", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.2:n.251A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702076" }, { "coordinates": [ { "allele": "T", "end": 163, "endIntronDirection": "-", "endIntronOffset": 25526, "referenceAllele": "A", "start": 163, "startIntronDirection": "-", "startIntronOffset": 25527 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.2:c.31-25527A>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:n.31-25527A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713260" }, { "@id": "http://reg.genome.network/allele/PA2826051000", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "A", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.2:c.169A>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:p.Arg57Ter", "hgvsWellDefined": "NP_001161407.1:p.Arg57_Ala353delinsLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713261" } ], "type": "nucleotide" }