{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10605124", "communityStandardTitle": [ "NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269714[alleleid]", "alleleId": 269714, "preferredName": "NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285477", "RCV": [ "RCV000432500" ], "variationId": 285477 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.238256455G>A?assembly=hg19", "id": "chr2:g.238256455G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.237347812G>A?assembly=hg38", "id": "chr2:g.237347812G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886043113", "rs": 886043113 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-238256455-G-A?dataset=gnomad_r2_1", "id": "2-238256455-G-A", "variant": "2:238256455 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-237347812-G-A?dataset=gnomad_r4", "id": "2-237347812-G-A", "variant": "2:237347812 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 237347812, "referenceAllele": "G", "start": 237347811 } ], "hgvs": [ "NC_000002.12:g.237347812G>A", "CM000664.2:g.237347812G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 238256455, "referenceAllele": "G", "start": 238256454 } ], "hgvs": [ "NC_000002.11:g.238256455G>A", "CM000664.1:g.238256455G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 237921194, "referenceAllele": "G", "start": 237921193 } ], "hgvs": [ "NC_000002.10:g.237921194G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 71396, "referenceAllele": "C", "start": 71395 } ], "hgvs": [ "NG_008676.1:g.71396C>T", "LRG_473:g.71396C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001161" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6656, "referenceAllele": "C", "start": 6655 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000353578.9:c.6406C>T" ], "proteinEffect": { "hgvs": "ENSP00000315873.4:p.Arg2136Ter", "hgvsWellDefined": "ENSP00000315873.4:p.Arg2137_Thr2971delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824068" }, { "coordinates": [ { "allele": "T", "end": 7266, "referenceAllele": "C", "start": 7265 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000295550.9:c.7024C>T" ], "proteinEffect": { "hgvs": "ENSP00000295550.4:p.Arg2342Ter", "hgvsWellDefined": "ENSP00000295550.4:p.Arg2343_Thr3177delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295550.9:c.7024C>T" }, "RefSeq": { "hgvs": "NM_004369.4:c.7024C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295550.4:p.Arg2342Ter" }, "RefSeq": { "hgvs": "NP_004360.2:p.Arg2342Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7477, "referenceAllele": "C", "start": 7476 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000295550.8:c.7024C>T" ], "proteinEffect": { "hgvs": "ENSP00000295550.4:p.Arg2342Ter", "hgvsWellDefined": "ENSP00000295550.4:p.Arg2343_Thr3177delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254109" }, { "coordinates": [ { "allele": "T", "end": 5429, "referenceAllele": "C", "start": 5428 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000347401.7:c.5203C>T" ], "proteinEffect": { "hgvs": "ENSP00000315609.4:p.Arg1735Ter", "hgvsWellDefined": "ENSP00000315609.4:p.Arg1736_Thr2569delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProPheHisGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262355" }, { "coordinates": [ { "allele": "T", "end": 6691, "referenceAllele": "C", "start": 6690 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000353578.8:c.6406C>T" ], "proteinEffect": { "hgvs": "ENSP00000315873.4:p.Arg2136Ter", "hgvsWellDefined": "ENSP00000315873.4:p.Arg2137_Thr2971delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262979" }, { "coordinates": [ { "allele": "T", "end": 6406, "referenceAllele": "C", "start": 6405 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000409809.5:c.6406C>T" ], "proteinEffect": { "hgvs": "ENSP00000386844.1:p.Arg2136Ter", "hgvsWellDefined": "ENSP00000386844.1:p.Arg2137_Thr2971delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281868" }, { "coordinates": [ { "allele": "T", "end": 5429, "referenceAllele": "C", "start": 5428 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000472056.5:c.5203C>T" ], "proteinEffect": { "hgvs": "ENSP00000418285.1:p.Arg1735Ter", "hgvsWellDefined": "ENSP00000418285.1:p.Arg1736_Thr2570delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS314119" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000491769.1:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS329297" }, { "@id": "http://reg.genome.network/allele/PA645455451", "coordinates": [ { "allele": "T", "end": 7309, "referenceAllele": "C", "start": 7308 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_004369.3:c.7024C>T", "LRG_473t1:c.7024C>T" ], "proteinEffect": { "hgvs": "NP_004360.2:p.Arg2342Ter", "hgvsWellDefined": "NP_004360.2:p.Arg2343_Thr3177delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029533" }, { "@id": "http://reg.genome.network/allele/PA2830148028", "coordinates": [ { "allele": "T", "end": 5488, "referenceAllele": "C", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057166.4:c.5203C>T" ], "proteinEffect": { "hgvs": "NP_476507.3:p.Arg1735Ter", "hgvsWellDefined": "NP_476507.3:p.Arg1736_Thr2570delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040059" }, { "@id": "http://reg.genome.network/allele/PA2830150310", "coordinates": [ { "allele": "T", "end": 6691, "referenceAllele": "C", "start": 6690 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057167.3:c.6406C>T" ], "proteinEffect": { "hgvs": "NP_476508.2:p.Arg2136Ter", "hgvsWellDefined": "NP_476508.2:p.Arg2137_Thr2971delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040060" }, { "coordinates": [ { "allele": "T", "end": 6666, "referenceAllele": "C", "start": 6665 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_005246065.1:c.6424C>T" ], "proteinEffect": { "hgvs": "XP_005246122.1:p.Arg2142Ter", "hgvsWellDefined": "XP_005246122.1:p.Arg2143_Thr2977delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057455" }, { "coordinates": [ { "allele": "T", "end": 5812, "referenceAllele": "C", "start": 5811 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_005246066.1:c.5803C>T" ], "proteinEffect": { "hgvs": "XP_005246123.1:p.Arg1935Ter", "hgvsWellDefined": "XP_005246123.1:p.Arg1936_Thr2770delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057456" }, { "coordinates": [ { "allele": "T", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_006712253.1:c.6523C>T" ], "proteinEffect": { "hgvs": "XP_006712316.1:p.Arg2175Ter", "hgvsWellDefined": "XP_006712316.1:p.Arg2176_Thr3010delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069545" }, { "coordinates": [ { "allele": "T", "end": 7263, "referenceAllele": "C", "start": 7262 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_011510574.1:c.7021C>T" ], "proteinEffect": { "hgvs": "XP_011508876.1:p.Arg2341Ter", "hgvsWellDefined": "XP_011508876.1:p.Arg2342_Thr3176delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077837" }, { "coordinates": [ { "allele": "T", "end": 5066, "referenceAllele": "C", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_011510575.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_011508877.1:p.Arg1540Ter", "hgvsWellDefined": "XP_011508877.1:p.Arg1541_Thr2375delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077838" }, { "coordinates": [ { "allele": "T", "end": 5528, "referenceAllele": "C", "start": 5527 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_017003304.1:c.4618C>T" ], "proteinEffect": { "hgvs": "XP_016858793.1:p.Arg1540Ter", "hgvsWellDefined": "XP_016858793.1:p.Arg1541_Thr2375delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559074" }, { "coordinates": [ { "allele": "T", "end": 6014, "referenceAllele": "C", "start": 6013 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_024452684.1:c.5803C>T" ], "proteinEffect": { "hgvs": "XP_024308452.1:p.Arg1935Ter", "hgvsWellDefined": "XP_024308452.1:p.Arg1936_Thr2770delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586075" }, { "@id": "http://reg.genome.network/allele/PA645455451", "coordinates": [ { "allele": "T", "end": 7266, "referenceAllele": "C", "start": 7265 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_004369.4:c.7024C>T" ], "proteinEffect": { "hgvs": "NP_004360.2:p.Arg2342Ter", "hgvsWellDefined": "NP_004360.2:p.Arg2343_Thr3177delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696119", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295550.9:c.7024C>T" }, "RefSeq": { "hgvs": "NM_004369.4:c.7024C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295550.4:p.Arg2342Ter" }, "RefSeq": { "hgvs": "NP_004360.2:p.Arg2342Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830148028", "coordinates": [ { "allele": "T", "end": 5445, "referenceAllele": "C", "start": 5444 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057166.5:c.5203C>T" ], "proteinEffect": { "hgvs": "NP_476507.3:p.Arg1735Ter", "hgvsWellDefined": "NP_476507.3:p.Arg1736_Thr2570delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699474" }, { "@id": "http://reg.genome.network/allele/PA2830150310", "coordinates": [ { "allele": "T", "end": 6648, "referenceAllele": "C", "start": 6647 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057167.4:c.6406C>T" ], "proteinEffect": { "hgvs": "NP_476508.2:p.Arg2136Ter", "hgvsWellDefined": "NP_476508.2:p.Arg2137_Thr2971delinsGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729011" } ], "type": "nucleotide" }