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}, "referenceSequence": "http://reg.genome.network/refseq/RS520461" }, { "coordinates": [ { "allele": "T", "end": 3168, "endIntronDirection": "-", "endIntronOffset": 1507, "referenceAllele": "C", "start": 3168, "startIntronDirection": "-", "startIntronOffset": 1508 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NR_147784.1:n.3169-1508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530836" }, { "coordinates": [ { "allele": "T", "end": 3575, "referenceAllele": "C", "start": 3574 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.2:c.3394C>T" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Gln1132Ter", "hgvsWellDefined": "XP_011520781.1:p.Gln1132_Val1492delinsAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546607" }, { "coordinates": [ { "allele": "T", "end": 3610, "referenceAllele": "C", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.3:c.3085C>T" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Gln1029Ter", "hgvsWellDefined": "XP_011520783.1:p.Gln1029_Val1389delinsAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546608" }, { "coordinates": [ { "allele": "T", "end": 3440, "referenceAllele": "C", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023212.1:c.3259C>T" ], "proteinEffect": { "hgvs": "XP_016878701.1:p.Gln1087Ter", "hgvsWellDefined": "XP_016878701.1:p.Gln1087_Val1447delinsAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "T", "end": 3488, "endIntronDirection": "-", "endIntronOffset": 1507, "referenceAllele": "C", "start": 3488, "startIntronDirection": "-", "startIntronOffset": 1508 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023214.1:c.3307-1508C>T" ], "proteinEffect": { "hgvs": "XP_016878703.1:n.3307-1508C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574013" }, { "coordinates": [ { "allele": "T", "end": 3646, "referenceAllele": "C", "start": 3645 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_024450261.1:c.3463C>T" ], "proteinEffect": { "hgvs": "XP_024306029.1:p.Gln1155Ter", "hgvsWellDefined": "XP_024306029.1:p.Gln1155_Val1515delinsAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583801" }, { "coordinates": [ { "allele": "T", "end": 3608, "referenceAllele": "C", "start": 3607 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.2:n.3608C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610311" }, { "coordinates": [ { "allele": "T", "end": 3487, "endIntronDirection": "-", "endIntronOffset": 1507, "referenceAllele": "C", "start": 3487, "startIntronDirection": "-", "startIntronOffset": 1508 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.3:n.3488-1508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "T", "end": 3487, "endIntronDirection": "-", "endIntronOffset": 1507, "referenceAllele": "C", "start": 3487, "startIntronDirection": "-", "startIntronOffset": 1508 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.3488-1508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "@id": "http://reg.genome.network/allele/PA2573066687", "coordinates": [ { "allele": "T", "end": 3487, "referenceAllele": "C", "start": 3486 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.3427C>T" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Gln1143Ter", "hgvsWellDefined": "NP_001162.5:p.Gln1143_Val1503delinsAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.3427C>T" }, "RefSeq": { "hgvs": "NM_001171.6:c.3427C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Gln1143Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Gln1143Ter" } } } } ], "type": "nucleotide" }