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"XP_024308770.1:p.Cys187_Pro576delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586389" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453003.1:c.501C>A" ], "proteinEffect": { "hgvs": "XP_024308771.1:p.Cys167Ter", "hgvsWellDefined": "XP_024308771.1:p.Cys167_Pro556delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586390" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453004.1:c.501C>A" ], "proteinEffect": { "hgvs": "XP_024308772.1:p.Cys167Ter", "hgvsWellDefined": "XP_024308772.1:p.Cys167_Pro522delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586391" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453005.1:c.381C>A" ], "proteinEffect": { "hgvs": "XP_024308773.1:p.Cys127Ter", "hgvsWellDefined": "XP_024308773.1:p.Cys127_Pro516delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586392" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453006.1:c.318C>A" ], "proteinEffect": { "hgvs": "XP_024308774.1:p.Cys106Ter", "hgvsWellDefined": "XP_024308774.1:p.Cys106_Pro495delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586393" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_000312.4:c.318C>A" ], "proteinEffect": { "hgvs": "NP_000303.1:p.Cys106Ter", "hgvsWellDefined": "NP_000303.1:p.Cys106_Pro461delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234071.8:c.318C>A" }, "RefSeq": { "hgvs": "NM_000312.4:c.318C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234071.4:p.Cys106Ter" }, "RefSeq": { "hgvs": "NP_000303.1:p.Cys106Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375602.1:c.501C>A" ], "proteinEffect": { "hgvs": "NP_001362531.1:p.Cys167Ter", "hgvsWellDefined": "NP_001362531.1:p.Cys167_Pro522delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693696" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375603.1:c.381C>A" ], "proteinEffect": { "hgvs": "NP_001362532.1:p.Cys127Ter", "hgvsWellDefined": "NP_001362532.1:p.Cys127_Pro516delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693697" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375604.1:c.381C>A" ], "proteinEffect": { "hgvs": "NP_001362533.1:p.Cys127Ter", "hgvsWellDefined": "NP_001362533.1:p.Cys127_Pro482delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693698" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375605.1:c.318C>A" ], "proteinEffect": { "hgvs": "NP_001362534.1:p.Cys106Ter", "hgvsWellDefined": "NP_001362534.1:p.Cys106_Pro495delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693699" }, { "coordinates": [ { "allele": "A", "end": 493, "referenceAllele": "C", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375606.1:c.473C>A" ], "proteinEffect": { "hgvs": "NP_001362535.1:p.Ala158Glu", "hgvsWellDefined": "NP_001362535.1:p.Ala158Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS693700" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375607.1:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001362536.1:p.Cys134Ter", "hgvsWellDefined": "NP_001362536.1:p.Cys134_Pro523delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGlyGluGlyGluArgTrpMetLeuAlaGlyGlyGlyAlaGlyLeuGlyProGlyTrpGlyArgGlyThrSerThrSerCysProArgProProLeuProAlaGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693701" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375608.1:c.318C>A" ], "proteinEffect": { "hgvs": "NP_001362537.1:p.Cys106Ter", "hgvsWellDefined": "NP_001362537.1:p.Cys106_Pro442delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693702" }, { "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375609.1:c.294C>A" ], "proteinEffect": { "hgvs": "NP_001362538.1:p.Cys98Ter", "hgvsWellDefined": "NP_001362538.1:p.Cys98_Pro453delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693703" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375610.1:c.312C>A" ], "proteinEffect": { "hgvs": "NP_001362539.1:p.Cys104Ter", "hgvsWellDefined": "NP_001362539.1:p.Cys104_Pro459delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693704" }, { "coordinates": [ { "allele": "A", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375611.1:c.318C>A" ], "proteinEffect": { "hgvs": "NP_001362540.1:p.Cys106Ter", "hgvsWellDefined": "NP_001362540.1:p.Cys106_Pro461delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693705" }, { "@id": "http://reg.genome.network/allele/PA3249487302", "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375613.1:c.318C>A" ], "proteinEffect": { "hgvs": "NP_001362542.1:p.Cys106Ter", "hgvsWellDefined": "NP_001362542.1:p.Cys106_Pro461delinsGlyHisGlyThrCysIleAspGlyIleGlySerPheSerCysAspCysArgSerGlyTrpGluGlyArgPheCysGlnArgGluValSerPheLeuAsnCysSerLeuAspAsnGlyGlyCysThrHisTyrCysLeuGluGluValGlyTrpArgArgCysSerCysAlaProGlyTyrLysLeuGlyAspAspLeuLeuGlnCysHisProAlaValLysPheProCysGlyArgProTrpLysArgMetGluLysLysArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693707" } ], "type": "nucleotide" }