{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253863", "communityStandardTitle": [ "NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21447[alleleid]", "alleleId": 21447, "preferredName": "NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6408", "RCV": [ "RCV000006777" ], "variationId": 6408 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-58131770-G-T", "id": "3-58131770-G-T", "variant": "3:58131770 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.58131770G>T?assembly=hg19", "id": "chr3:g.58131770G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.58146043G>T?assembly=hg38", "id": "chr3:g.58146043G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908898", "rs": 121908898 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-58131770-G-T?dataset=gnomad_r2_1", "id": "3-58131770-G-T", "variant": "3:58131770 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-58146043-G-T?dataset=gnomad_r4", "id": "3-58146043-G-T", "variant": "3:58146043 G / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 58146043, "referenceAllele": "G", "start": 58146042 } ], "hgvs": [ "NC_000003.12:g.58146043G>T", "CM000665.2:g.58146043G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 58131770, "referenceAllele": "G", "start": 58131769 } ], "hgvs": [ "NC_000003.11:g.58131770G>T", "CM000665.1:g.58131770G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 58106810, "referenceAllele": "G", "start": 58106809 } ], "hgvs": [ "NC_000003.10:g.58106810G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 142644, "referenceAllele": "G", "start": 142643 } ], "hgvs": [ "NG_012801.1:g.142644G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002539" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "G", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000682297.1:n.900G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827291" }, { "coordinates": [ { "allele": "T", "end": 5571, "referenceAllele": "G", "start": 5570 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000682871.1:c.5428G>T" ], "proteinEffect": { "hgvs": "ENSP00000507805.1:p.Gly1810Ter", "hgvsWellDefined": "ENSP00000507805.1:p.Gly1810_Pro2562delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827859" }, { "coordinates": [ { "allele": "T", "end": 1646, "referenceAllele": "G", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000683925.1:n.1646G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828891" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "G", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000684439.1:n.1859G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829393" }, { "coordinates": [ { "allele": "T", "end": 5810, "referenceAllele": "G", "start": 5809 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000684506.1:c.*4101G>T" ], "proteinEffect": { "hgvs": "ENSP00000507728.1:n.*4101G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829460" }, { "coordinates": [ { "allele": "T", "end": 5712, "referenceAllele": "G", "start": 5711 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000684607.1:c.5569G>T" ], "proteinEffect": { "hgvs": "ENSP00000508224.1:p.Gly1857Ter", "hgvsWellDefined": "ENSP00000508224.1:p.Gly1857_Ser2270delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyIleGlyIleLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829559" }, { "coordinates": [ { "allele": "T", "end": 5691, "referenceAllele": "G", "start": 5690 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000295956.9:c.5548G>T" ], "proteinEffect": { "hgvs": "ENSP00000295956.5:p.Gly1850Ter", "hgvsWellDefined": "ENSP00000295956.5:p.Gly1850_Pro2602delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295956.9:c.5548G>T" }, "RefSeq": { "hgvs": "NM_001457.4:c.5548G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295956.5:p.Gly1850Ter" }, "RefSeq": { "hgvs": "NP_001448.2:p.Gly1850Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5713, "referenceAllele": "G", "start": 5712 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000295956.8:c.5548G>T" ], "proteinEffect": { "hgvs": "ENSP00000295956.4:p.Gly1850Ter", "hgvsWellDefined": "ENSP00000295956.4:p.Gly1850_Pro2602delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254204" }, { "coordinates": [ { "allele": "T", "end": 5641, "referenceAllele": "G", "start": 5640 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000358537.7:c.5476G>T" ], "proteinEffect": { "hgvs": "ENSP00000351339.3:p.Gly1826Ter", "hgvsWellDefined": "ENSP00000351339.3:p.Gly1826_Pro2578delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264488" }, { "coordinates": [ { "allele": "T", "end": 5680, "referenceAllele": "G", "start": 5679 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000429972.6:c.5515G>T" ], "proteinEffect": { "hgvs": "ENSP00000415599.2:p.Gly1839Ter", "hgvsWellDefined": "ENSP00000415599.2:p.Gly1839_Pro2591delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290916" }, { "coordinates": [ { "allele": "T", "end": 1816, "referenceAllele": "G", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000481470.5:n.1816G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321372" }, { "coordinates": [ { "allele": "T", "end": 5806, "referenceAllele": "G", "start": 5805 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000490882.5:c.5641G>T" ], "proteinEffect": { "hgvs": "ENSP00000420213.1:p.Gly1881Ter", "hgvsWellDefined": "ENSP00000420213.1:p.Gly1881_Pro2633delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328607" }, { "coordinates": [ { "allele": "T", "end": 5126, "referenceAllele": "G", "start": 5125 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "ENST00000493452.5:c.4969G>T" ], "proteinEffect": { "hgvs": "ENSP00000418510.1:p.Gly1657Ter", "hgvsWellDefined": "ENSP00000418510.1:p.Gly1657_Pro2409delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS330597" }, { "@id": "http://reg.genome.network/allele/PA915988278", "coordinates": [ { "allele": "T", "end": 5806, "referenceAllele": "G", "start": 5805 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164317.1:c.5641G>T" ], "proteinEffect": { "hgvs": "NP_001157789.1:p.Gly1881Ter", "hgvsWellDefined": "NP_001157789.1:p.Gly1881_Pro2633delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014497" }, { "@id": "http://reg.genome.network/allele/PA2825975490", "coordinates": [ { "allele": "T", "end": 5680, "referenceAllele": "G", "start": 5679 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164318.1:c.5515G>T" ], "proteinEffect": { "hgvs": "NP_001157790.1:p.Gly1839Ter", "hgvsWellDefined": "NP_001157790.1:p.Gly1839_Pro2591delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014498" }, { "@id": "http://reg.genome.network/allele/PA2825976973", "coordinates": [ { "allele": "T", "end": 5641, "referenceAllele": "G", "start": 5640 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164319.1:c.5476G>T" ], "proteinEffect": { "hgvs": "NP_001157791.1:p.Gly1826Ter", "hgvsWellDefined": "NP_001157791.1:p.Gly1826_Pro2578delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014499" }, { "@id": "http://reg.genome.network/allele/PA253864", "coordinates": [ { "allele": "T", "end": 5713, "referenceAllele": "G", "start": 5712 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001457.3:c.5548G>T" ], "proteinEffect": { "hgvs": "NP_001448.2:p.Gly1850Ter", "hgvsWellDefined": "NP_001448.2:p.Gly1850_Pro2602delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026839" }, { "coordinates": [ { "allele": "T", "end": 5753, "referenceAllele": "G", "start": 5752 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264977.1:c.5608G>T" ], "proteinEffect": { "hgvs": "XP_005265034.1:p.Gly1870Ter", "hgvsWellDefined": "XP_005265034.1:p.Gly1870_Pro2622delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064454" }, { "coordinates": [ { "allele": "T", "end": 5714, "referenceAllele": "G", "start": 5713 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264978.1:c.5569G>T" ], "proteinEffect": { "hgvs": "XP_005265035.1:p.Gly1857Ter", "hgvsWellDefined": "XP_005265035.1:p.Gly1857_Pro2609delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064455" }, { "coordinates": [ { "allele": "T", "end": 5786, "referenceAllele": "G", "start": 5785 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264981.1:c.5641G>T" ], "proteinEffect": { "hgvs": "XP_005265038.1:p.Gly1881Ter", "hgvsWellDefined": "XP_005265038.1:p.Gly1881_Gln2181delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGlyValArgValMetAsnCysSerAlaGlnIleLeuTrpGlyTrpArgValGlnPheHisThrGlySerArgAsnGlnGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064456" }, { "coordinates": [ { "allele": "T", "end": 5786, "referenceAllele": "G", "start": 5785 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XR_940396.1:n.5786G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS135092" }, { "coordinates": [ { "allele": "T", "end": 5714, "referenceAllele": "G", "start": 5713 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264978.2:c.5569G>T" ], "proteinEffect": { "hgvs": "XP_005265035.1:p.Gly1857Ter", "hgvsWellDefined": "XP_005265035.1:p.Gly1857_Pro2609delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535977" }, { "coordinates": [ { "allele": "T", "end": 5786, "referenceAllele": "G", "start": 5785 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XR_001740065.1:n.5786G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590320" }, { "coordinates": [ { "allele": "T", "end": 5786, "referenceAllele": "G", "start": 5785 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XR_940396.2:n.5786G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612633" }, { "@id": "http://reg.genome.network/allele/PA915988278", "coordinates": [ { "allele": "T", "end": 5784, "referenceAllele": "G", "start": 5783 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164317.2:c.5641G>T" ], "proteinEffect": { "hgvs": "NP_001157789.1:p.Gly1881Ter", "hgvsWellDefined": "NP_001157789.1:p.Gly1881_Pro2633delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678307" }, { "@id": "http://reg.genome.network/allele/PA2825975490", "coordinates": [ { "allele": "T", "end": 5658, "referenceAllele": "G", "start": 5657 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164318.2:c.5515G>T" ], "proteinEffect": { "hgvs": "NP_001157790.1:p.Gly1839Ter", "hgvsWellDefined": "NP_001157790.1:p.Gly1839_Pro2591delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678308" }, { "@id": "http://reg.genome.network/allele/PA2825976973", "coordinates": [ { "allele": "T", "end": 5619, "referenceAllele": "G", "start": 5618 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164319.2:c.5476G>T" ], "proteinEffect": { "hgvs": "NP_001157791.1:p.Gly1826Ter", "hgvsWellDefined": "NP_001157791.1:p.Gly1826_Pro2578delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678309" }, { "@id": "http://reg.genome.network/allele/PA253864", "coordinates": [ { "allele": "T", "end": 5691, "referenceAllele": "G", "start": 5690 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001457.4:c.5548G>T" ], "proteinEffect": { "hgvs": "NP_001448.2:p.Gly1850Ter", "hgvsWellDefined": "NP_001448.2:p.Gly1850_Pro2602delinsGluGlyGlyLeuAspLeuAlaIleGluGlyProSerLysAlaGluIleSerCysIleAspAsnLysAspGlyThrCysThrValThrTyrLeuProThrLeuProGlyAspTyrSerIleLeuValLysTyrAsnAspLysHisIleProGlySerProPheThrAlaLysIleThrAspAspSerArgArgCysSerGlnValLysLeuGlySerAlaAlaAspPheLeuLeuAspIleSerGluThrAspLeuSerSerLeuThrAlaSerIleLysAlaProSerGlyArgAspGluProCysLeuLeuLysArgLeuProAsnAsnHisIleGlyIleSerPheIleProArgGluValGlyGluHisLeuValSerIleLysLysAsnGlyAsnHisValAlaAsnSerProValSerIleMetValValGlnSerGluIleGlyAspAlaArgArgAlaLysValTyrGlyArgGlyLeuSerGluGlyArgThrPheGluMetSerAspPheIleValAspThrArgAspAlaGlyTyrGlyGlyIleSerLeuAlaValGluGlyProSerLysValAspIleGlnThrGluAspLeuGluAspGlyThrCysLysValSerTyrPheProThrValProGlyValTyrIleValSerThrLysPheAlaAspGluHisValProGlySerProPheThrValLysIleSerGlyGluGlyArgValLysGluSerIleThrArgThrSerArgAlaProSerValAlaThrValGlySerIleCysAspLeuAsnLeuLysIleProGluIleAsnSerSerAspMetSerAlaHisValThrSerProSerGlyArgValThrGluAlaGluIleValProMetGlyLysAsnSerHisCysValArgPheValProGlnGluMetGlyValHisThrValSerValLysTyrArgGlyGlnHisValThrGlySerProPheGlnPheThrValGlyProLeuGlyGluGlyGlyAlaHisLysValArgAlaGlyGlyProGlyLeuGluArgGlyGluAlaGlyValProAlaGluPheSerIleTrpThrArgGluAlaGlyAlaGlyGlyLeuSerIleAlaValGluGlyProSerLysAlaGluIleThrPheAspAspHisLysAsnGlySerCysGlyValSerTyrIleAlaGlnGluProGlyAsnTyrGluValSerIleLysPheAsnAspGluHisIleProGluSerProTyrLeuValProValIleAlaProSerAspAspAlaArgArgLeuThrValMetSerLeuGlnGluSerGlyLeuLysValAsnGlnProAlaSerPheAlaIleArgLeuAsnGlyAlaLysGlyLysIleAspAlaLysValHisSerProSerGlyAlaValGluGluCysHisValSerGluLeuGluProAspLysTyrAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295956.9:c.5548G>T" }, "RefSeq": { "hgvs": "NM_001457.4:c.5548G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295956.5:p.Gly1850Ter" }, "RefSeq": { "hgvs": "NP_001448.2:p.Gly1850Ter" } } } } ], "type": "nucleotide" }