{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8769662", "communityStandardTitle": [ "NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389207[alleleid]", "alleleId": 389207, "preferredName": "NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402232", "RCV": [ "RCV000454275" ], "variationId": 402232 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-73739817-C-T", "id": "17-73739817-C-T", "variant": "17:73739817 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73739817C>T?assembly=hg19", "id": "chr17:g.73739817C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75743736C>T?assembly=hg38", "id": "chr17:g.75743736C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/772142634", "rs": 772142634 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73739817-C-T?dataset=gnomad_r2_1", "id": "17-73739817-C-T", "variant": "17:73739817 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75743736-C-T?dataset=gnomad_r4", "id": "17-75743736-C-T", "variant": "17:75743736 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75743736, "referenceAllele": "C", "start": 75743735 } ], "hgvs": [ "NC_000017.11:g.75743736C>T", "CM000679.2:g.75743736C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 73739817, "referenceAllele": "C", "start": 73739816 } ], "hgvs": [ "NC_000017.10:g.73739817C>T", "CM000679.1:g.73739817C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 71251412, "referenceAllele": "C", "start": 71251411 } ], "hgvs": [ "NC_000017.9:g.71251412C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 27302, "referenceAllele": "C", "start": 27301 } ], "hgvs": [ "NG_007372.1:g.27302C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000549" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3150, "referenceAllele": "C", "start": 3149 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.7:c.2986C>T" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Gln996Ter", "hgvsWellDefined": "ENSP00000400217.2:p.Gln996_Thr1805delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904987" }, { "coordinates": [ { "allele": "T", "end": 3150, "referenceAllele": "C", "start": 3149 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.8:c.2986C>T" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Gln996Ter", "hgvsWellDefined": "ENSP00000200181.3:p.Gln996_Thr1822delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.2986C>T" }, "RefSeq": { "hgvs": "NM_000213.5:c.2986C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Gln996Ter" }, "RefSeq": { "hgvs": "NP_000204.3:p.Gln996Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3173, "referenceAllele": "C", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000200181.7:c.2986C>T" ], "proteinEffect": { "hgvs": "ENSP00000200181.3:p.Gln996Ter", "hgvsWellDefined": "ENSP00000200181.3:p.Gln996_Thr1822delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247769" }, { "coordinates": [ { "allele": "T", "end": 2994, "referenceAllele": "C", "start": 2993 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000449880.6:c.2986C>T" ], "proteinEffect": { "hgvs": "ENSP00000400217.2:p.Gln996Ter", "hgvsWellDefined": "ENSP00000400217.2:p.Gln996_Thr1805delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300432" }, { "coordinates": [ { "allele": "T", "end": 3112, "referenceAllele": "C", "start": 3111 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000450894.7:c.2986C>T" ], "proteinEffect": { "hgvs": "ENSP00000405536.3:p.Gln996Ter", "hgvsWellDefined": "ENSP00000405536.3:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300917" }, { "coordinates": [ { "allele": "T", "end": 3232, "referenceAllele": "C", "start": 3231 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000579662.5:c.2986C>T" ], "proteinEffect": { "hgvs": "ENSP00000463651.1:p.Gln996Ter", "hgvsWellDefined": "ENSP00000463651.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS385949" }, { "coordinates": [ { "allele": "T", "end": 265, "endIntronDirection": "-", "endIntronOffset": 13889, "referenceAllele": "C", "start": 265, "startIntronDirection": "-", "startIntronOffset": 13890 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000582629.1:c.266-13890C>T" ], "proteinEffect": { "hgvs": "ENSP00000463788.1:n.266-13890C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS387364" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "ENST00000584025.1:n.362C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388028" }, { "@id": "http://reg.genome.network/allele/PA645499224", "coordinates": [ { "allele": "T", "end": 3173, "referenceAllele": "C", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.3:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Gln996Ter", "hgvsWellDefined": "NP_000204.3:p.Gln996_Thr1822delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006277" }, { "@id": "http://reg.genome.network/allele/PA2825275150", "coordinates": [ { "allele": "T", "end": 2994, "referenceAllele": "C", "start": 2993 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005619.1:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_001005619.1:p.Gln996Ter", "hgvsWellDefined": "NP_001005619.1:p.Gln996_Thr1805delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007768" }, { "@id": "http://reg.genome.network/allele/PA2825276018", "coordinates": [ { "allele": "T", "end": 3173, "referenceAllele": "C", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.1:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Gln996Ter", "hgvsWellDefined": "NP_001005731.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007769" }, { "coordinates": [ { "allele": "T", "end": 3051, "referenceAllele": "C", "start": 3050 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257309.2:c.2986C>T" ], "proteinEffect": { "hgvs": "XP_005257366.1:p.Gln996Ter", "hgvsWellDefined": "XP_005257366.1:p.Gln996_Thr1875delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061657" }, { "coordinates": [ { "allele": "T", "end": 3267, "referenceAllele": "C", "start": 3266 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.3:c.2986C>T" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Gln996Ter", "hgvsWellDefined": "XP_005257368.1:p.Gln996_Thr1875delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061658" }, { "coordinates": [ { "allele": "T", "end": 3051, "referenceAllele": "C", "start": 3050 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257312.2:c.2986C>T" ], "proteinEffect": { "hgvs": "XP_005257369.1:p.Gln996Ter", "hgvsWellDefined": "XP_005257369.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061659" }, { "coordinates": [ { "allele": "T", "end": 3173, "referenceAllele": "C", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.2:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721929.1:p.Gln1031_Thr1910delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074288" }, { "coordinates": [ { "allele": "T", "end": 3170, "referenceAllele": "C", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.2:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721930.1:p.Gln1031_Thr1857delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074289" }, { "coordinates": [ { "allele": "T", "end": 3167, "referenceAllele": "C", "start": 3166 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.2:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721931.1:p.Gln1031_Thr1840delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074290" }, { "coordinates": [ { "allele": "T", "end": 3164, "referenceAllele": "C", "start": 3163 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.2:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721933.1:p.Gln1031_Thr1787delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074291" }, { "coordinates": [ { "allele": "T", "end": 3171, "referenceAllele": "C", "start": 3170 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.1:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Gln1031Ter", "hgvsWellDefined": "XP_011523053.1:p.Gln1031_Thr1807delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091872" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524752.1:c.931C>T" ], "proteinEffect": { "hgvs": "XP_011523054.1:p.Gln311Ter", "hgvsWellDefined": "XP_011523054.1:p.Gln311_Thr1190delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091873" }, { "@id": "http://reg.genome.network/allele/PA645499224", "coordinates": [ { "allele": "T", "end": 3281, "referenceAllele": "C", "start": 3280 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.4:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Gln996Ter", "hgvsWellDefined": "NP_000204.3:p.Gln996_Thr1822delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510767" }, { "@id": "http://reg.genome.network/allele/PA2825276018", "coordinates": [ { "allele": "T", "end": 3281, "referenceAllele": "C", "start": 3280 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.2:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Gln996Ter", "hgvsWellDefined": "NP_001005731.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510938" }, { "@id": "http://reg.genome.network/allele/PA916024838", "coordinates": [ { "allele": "T", "end": 3232, "referenceAllele": "C", "start": 3231 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.1:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Gln996Ter", "hgvsWellDefined": "NP_001308052.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514056" }, { "coordinates": [ { "allele": "T", "end": 3270, "referenceAllele": "C", "start": 3269 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_005257311.4:c.2986C>T" ], "proteinEffect": { "hgvs": "XP_005257368.1:p.Gln996Ter", "hgvsWellDefined": "XP_005257368.1:p.Gln996_Thr1875delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534638" }, { "coordinates": [ { "allele": "T", "end": 3197, "referenceAllele": "C", "start": 3196 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721866.3:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721929.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721929.1:p.Gln1031_Thr1910delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540400" }, { "coordinates": [ { "allele": "T", "end": 3194, "referenceAllele": "C", "start": 3193 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721867.3:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721930.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721930.1:p.Gln1031_Thr1857delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540401" }, { "coordinates": [ { "allele": "T", "end": 3191, "referenceAllele": "C", "start": 3190 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721868.3:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721931.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721931.1:p.Gln1031_Thr1840delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540402" }, { "coordinates": [ { "allele": "T", "end": 3187, "referenceAllele": "C", "start": 3186 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_006721870.3:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_006721933.1:p.Gln1031Ter", "hgvsWellDefined": "XP_006721933.1:p.Gln1031_Thr1787delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540403" }, { "coordinates": [ { "allele": "T", "end": 3195, "referenceAllele": "C", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524751.2:c.3091C>T" ], "proteinEffect": { "hgvs": "XP_011523053.1:p.Gln1031Ter", "hgvsWellDefined": "XP_011523053.1:p.Gln1031_Thr1807delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547579" }, { "coordinates": [ { "allele": "T", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "XM_011524752.2:c.931C>T" ], "proteinEffect": { "hgvs": "XP_011523054.1:p.Gln311Ter", "hgvsWellDefined": "XP_011523054.1:p.Gln311_Thr1190delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisGlyLeuProProIleTrpGluHisGlyArgSerArgLeuProLeuSerTrpAlaLeuGlySerArgSerArgAlaGlnMetLysGlyPheProProSerArgGlyProArgAspSerIleIleLeuAlaGlyArgProAlaAlaProSerTrpGlyProAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547580" }, { "@id": "http://reg.genome.network/allele/PA645499224", "coordinates": [ { "allele": "T", "end": 3150, "referenceAllele": "C", "start": 3149 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_000213.5:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_000204.3:p.Gln996Ter", "hgvsWellDefined": "NP_000204.3:p.Gln996_Thr1822delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGlyCysGlyTrpLysPheGluProLeuLeuGlyGluGluLeuAspLeuArgArgValThrTrpArgLeuProProGluLeuIleProArgLeuSerAlaSerSerGlyArgSerSerAspAlaGluAlaProHisGlyProProAspAspGlyGlyAlaGlyGlyLysGlyGlySerLeuProArgSerAlaThrProGlyProProGlyGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000200181.8:c.2986C>T" }, "RefSeq": { "hgvs": "NM_000213.5:c.2986C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000200181.3:p.Gln996Ter" }, "RefSeq": { "hgvs": "NP_000204.3:p.Gln996Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825276018", "coordinates": [ { "allele": "T", "end": 3150, "referenceAllele": "C", "start": 3149 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001005731.3:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_001005731.1:p.Gln996Ter", "hgvsWellDefined": "NP_001005731.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675206" }, { "@id": "http://reg.genome.network/allele/PA916024838", "coordinates": [ { "allele": "T", "end": 3101, "referenceAllele": "C", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN006158", "geneNCBI_id": 3691, "geneSymbol": "ITGB4", "hgvs": [ "NM_001321123.2:c.2986C>T" ], "proteinEffect": { "hgvs": "NP_001308052.1:p.Gln996Ter", "hgvsWellDefined": "NP_001308052.1:p.Gln996_Thr1752delinsProGluPheSerValSerArgGlyAspGlnValAlaArgIleProValIleArgArgValLeuAspGlyGlyLysSerGlnValSerTyrArgThrGlnAspGlyThrAlaGlnGlyAsnArgAspTyrIleProValGluGlyGluLeuLeuPheGlnProGlyGluAlaTrpLysGluLeuGlnValLysLeuLeuGluLeuGlnGluValAspSerLeuLeuArgGlyArgGlnValArgArgPheHisValGlnLeuSerAsnProLysPheGlyAlaHisLeuGlyGlnProHisSerThrThrIleIleIleArgAspProAspGluLeuAspArgSerPheThrSerGlnMetLeuSerSerGlnProProProHisGlyAspLeuGlyAlaProGlnAsnProAsnAlaLysAlaAlaGlySerArgLysIleHisPheAsnTrpLeuProProSerGlyLysProMetGlyTyrArgValLysTyrTrpIleGlnGlyAspSerGluSerGluAlaHisLeuLeuAspSerLysValProSerValGluLeuThrAsnLeuTyrProTyrCysAspTyrGluMetLysValCysAlaTyrGlyAlaGlnGlyGluGlyProTyrSerSerLeuValSerCysArgThrHisGlnGluValProSerGluProGlyArgLeuAlaPheAsnValValSerSerThrValThrGlnLeuSerTrpAlaGluProAlaGluThrAsnGlyGluIleThrAlaTyrGluValCysTyrGlyLeuValAsnAspAspAsnArgProIleGlyProMetLysLysValLeuValAspAsnProLysAsnArgMetLeuLeuIleGluAsnLeuArgGluSerGlnProTyrArgTyrThrValLysAlaArgAsnGlyAlaGlyTrpGlyProGluArgGluAlaIleIleAsnLeuAlaThrGlnProLysArgProMetSerIleProIleIleProAspIleProIleValAspAlaGlnSerGlyGluAspTyrAspSerPheLeuMetTyrSerAspAspValLeuArgSerProSerGlySerGlnArgProSerValSerAspAspThrGluHisLeuValAsnGlyArgMetAspPheAlaPheProGlySerThrAsnSerLeuHisArgMetThrThrThrSerAlaAlaAlaTyrGlyThrHisLeuSerProHisValProHisArgValLeuSerThrSerSerThrLeuThrArgAspTyrAsnSerLeuThrArgSerGluHisSerHisSerThrThrLeuProArgAspTyrSerThrLeuThrSerValSerSerHisAspSerArgLeuThrAlaGlyValProAspThrProThrArgLeuValPheSerAlaLeuGlyProThrSerLeuArgValSerTrpGlnGluProArgCysGluArgProLeuGlnGlyTyrSerValGluTyrGlnLeuLeuAsnGlyGlyGluLeuHisArgLeuAsnIleProAsnProAlaGlnThrSerValValValGluAspLeuLeuProAsnHisSerTyrValPheArgValArgAlaGlnSerGlnGluGlyTrpGlyArgGluArgGluGlyValIleThrIleGluSerGlnValHisProGlnSerProLeuCysProLeuProGlySerAlaPheThrLeuSerThrProSerAlaProGlyProLeuValPheThrAlaLeuSerProAspSerLeuGlnLeuSerTrpGluArgProArgArgProAsnGlyAspIleValGlyTyrLeuValThrCysGluMetAlaGlnGlyGlyGlyProAlaThrAlaPheArgValAspGlyAspSerProGluSerArgLeuThrValProGlyLeuSerGluAsnValProTyrLysPheLysValGlnAlaArgThrThrGluGlyPheGlyProGluArgGluGlyIleIleThrIleGluSerGlnAspGlyGlyProPheProGlnLeuGlySerArgAlaGlyLeuPheGlnHisProLeuGlnSerGluTyrSerSerIleThrThrThrHisThrSerAlaThrGluProPheLeuValAspGlyLeuThrLeuGlyAlaGlnHisLeuGluAlaGlyGlySerLeuThrArgHisValThrGlnGluPheValSerArgThrLeuThrThrSerGlyThrLeuSerThrHisMetAspGlnGlnPhePheGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685213" } ], "type": "nucleotide" }