{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351634", "communityStandardTitle": [ "NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223713[alleleid]", "alleleId": 223713, "preferredName": "NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222022", "RCV": [ "RCV000207472" ], "variationId": 222022 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.23757425C>A?assembly=hg19", "id": "chr12:g.23757425C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.23604491C>A?assembly=hg38", "id": "chr12:g.23604491C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/869025321", "rs": 869025321 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 23604491, 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"http://reg.genome.network/refseq/RS768788" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "ENST00000367206.7:c.1030G>T" ], "proteinEffect": { "hgvs": "ENSP00000356174.3:p.Gly344Ter", "hgvsWellDefined": "ENSP00000356174.3:p.Gly345_Thr509delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluValLeuGluSerGlnSerGlnGluPheIleGlyAsnProGluGlyValValAlaMetAsnProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266263" }, { "coordinates": [ { "allele": "T", 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"http://reg.genome.network/refseq/RS273339" }, { "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "ENST00000451604.6:c.1060G>T" ], "proteinEffect": { "hgvs": "ENSP00000398273.2:p.Gly354Ter", "hgvsWellDefined": 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"ENSP00000443520.1:p.Gly345_Asn753delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365360" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "ENST00000546136.5:c.1021G>T" ], "proteinEffect": { "hgvs": "ENSP00000437487.1:p.Gly341Ter", "hgvsWellDefined": "ENSP00000437487.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365460" }, { "@id": "http://reg.genome.network/allele/PA2826481424", "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "G", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001261414.1:c.1021G>T" ], "proteinEffect": { "hgvs": "NP_001248343.1:p.Gly341Ter", "hgvsWellDefined": "NP_001248343.1:p.Gly342_Asn642delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019958" }, { "@id": "http://reg.genome.network/allele/PA2826481552", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001261415.1:c.1030G>T" ], "proteinEffect": { "hgvs": "NP_001248344.1:p.Gly344Ter", "hgvsWellDefined": "NP_001248344.1:p.Gly345_Asn753delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019959" }, { "@id": "http://reg.genome.network/allele/PA915987861", "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_006940.4:c.1060G>T" ], "proteinEffect": { "hgvs": "NP_008871.3:p.Gly354Ter", "hgvsWellDefined": "NP_008871.3:p.Gly355_Asn763delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031912" }, { "@id": "http://reg.genome.network/allele/PA351635", "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_152989.3:c.1021G>T" ], "proteinEffect": { "hgvs": "NP_694534.1:p.Gly341Ter", "hgvsWellDefined": "NP_694534.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042223" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_006719149.2:c.1021G>T" ], "proteinEffect": { "hgvs": "XP_006719212.1:p.Gly341Ter", "hgvsWellDefined": "XP_006719212.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072973" }, { "coordinates": [ { "allele": "T", "end": 1014, "referenceAllele": "G", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520831.1:c.955G>T" ], "proteinEffect": { "hgvs": "XP_011519133.1:p.Gly319Ter", "hgvsWellDefined": "XP_011519133.1:p.Gly320_Asn728delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087996" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "G", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520832.1:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011519134.1:p.Gly355Ter", "hgvsWellDefined": "XP_011519134.1:p.Gly356_Asn764delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087997" }, { "coordinates": [ { "allele": "T", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520833.1:c.1033G>T" ], "proteinEffect": { "hgvs": "XP_011519135.1:p.Gly345Ter", "hgvsWellDefined": "XP_011519135.1:p.Gly346_Asn754delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087998" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520834.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519136.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519136.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087999" }, { "coordinates": [ { "allele": "T", "end": 1539, "referenceAllele": "G", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520835.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519137.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519137.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088000" }, { "coordinates": [ { "allele": "T", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520836.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519138.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519138.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088001" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "G", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520837.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519139.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519139.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088002" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520838.1:c.958G>T" ], "proteinEffect": { "hgvs": "XP_011519140.1:p.Gly320Ter", "hgvsWellDefined": "XP_011519140.1:p.Gly321_Asn729delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088003" }, { "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520839.1:c.916G>T" ], "proteinEffect": { "hgvs": "XP_011519141.1:p.Gly306Ter", "hgvsWellDefined": "XP_011519141.1:p.Gly307_Asn715delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088004" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520840.1:c.226G>T" ], "proteinEffect": { "hgvs": "XP_011519142.1:p.Gly76Ter", "hgvsWellDefined": "XP_011519142.1:p.Gly77_Asn485delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088005" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520841.1:c.226G>T" ], "proteinEffect": { "hgvs": "XP_011519143.1:p.Gly76Ter", "hgvsWellDefined": "XP_011519143.1:p.Gly77_Asn485delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088006" }, { "coordinates": [ { "allele": "T", "end": 87, "referenceAllele": "G", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520842.1:c.16G>T" ], "proteinEffect": { "hgvs": "XP_011519144.1:p.Gly6Ter", "hgvsWellDefined": "XP_011519144.1:p.Gly7_Asn415delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088007" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520843.1:c.226G>T" ], "proteinEffect": { "hgvs": "XP_011519145.1:p.Gly76Ter", "hgvsWellDefined": "XP_011519145.1:p.Gly77_Asn485delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088008" }, { "@id": "http://reg.genome.network/allele/PA2826481424", "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "G", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001261414.2:c.1021G>T" ], "proteinEffect": { "hgvs": "NP_001248343.1:p.Gly341Ter", "hgvsWellDefined": "NP_001248343.1:p.Gly342_Asn642delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512009" }, { "@id": "http://reg.genome.network/allele/PA2826481552", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001261415.2:c.1030G>T" ], "proteinEffect": { "hgvs": "NP_001248344.1:p.Gly344Ter", "hgvsWellDefined": "NP_001248344.1:p.Gly345_Asn753delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512010" }, { "@id": "http://reg.genome.network/allele/PA2827349870", "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001330785.1:c.955G>T" ], "proteinEffect": { "hgvs": "NP_001317714.1:p.Gly319Ter", "hgvsWellDefined": "NP_001317714.1:p.Gly320_Asn728delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517098" }, { "@id": "http://reg.genome.network/allele/PA915987861", "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_006940.5:c.1060G>T" ], "proteinEffect": { "hgvs": "NP_008871.3:p.Gly354Ter", "hgvsWellDefined": "NP_008871.3:p.Gly355_Asn763delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525439" }, { "@id": "http://reg.genome.network/allele/PA351635", "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "G", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_152989.4:c.1021G>T" ], "proteinEffect": { "hgvs": "NP_694534.1:p.Gly341Ter", "hgvsWellDefined": "NP_694534.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526689" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "G", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520832.2:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011519134.1:p.Gly355Ter", "hgvsWellDefined": "XP_011519134.1:p.Gly356_Asn764delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545891" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520833.2:c.1033G>T" ], "proteinEffect": { "hgvs": "XP_011519135.1:p.Gly345Ter", "hgvsWellDefined": "XP_011519135.1:p.Gly346_Asn754delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545892" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520834.2:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519136.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519136.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545893" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520835.2:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519137.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519137.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545894" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "G", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520837.2:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_011519139.1:p.Gly342Ter", "hgvsWellDefined": "XP_011519139.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545895" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520838.2:c.958G>T" ], "proteinEffect": { "hgvs": "XP_011519140.1:p.Gly320Ter", "hgvsWellDefined": "XP_011519140.1:p.Gly321_Asn729delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545896" }, { "coordinates": [ { "allele": "T", "end": 87, "referenceAllele": "G", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_011520842.2:c.16G>T" ], "proteinEffect": { "hgvs": "XP_011519144.1:p.Gly6Ter", "hgvsWellDefined": "XP_011519144.1:p.Gly7_Asn415delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545897" }, { "coordinates": [ { "allele": "T", "end": 1479, "referenceAllele": "G", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019888.1:c.1150G>T" ], "proteinEffect": { "hgvs": "XP_016875377.1:p.Gly384Ter", "hgvsWellDefined": "XP_016875377.1:p.Gly385_Asn793delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571469" }, { "coordinates": [ { "allele": "T", "end": 1475, "referenceAllele": "G", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019889.1:c.1147G>T" ], "proteinEffect": { "hgvs": "XP_016875378.1:p.Gly383Ter", "hgvsWellDefined": "XP_016875378.1:p.Gly384_Asn792delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571470" }, { "coordinates": [ { "allele": "T", "end": 1614, "referenceAllele": "G", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019890.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016875379.1:p.Gly342Ter", "hgvsWellDefined": "XP_016875379.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571471" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019891.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016875380.1:p.Gly342Ter", "hgvsWellDefined": "XP_016875380.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571472" }, { "coordinates": [ { "allele": "T", "end": 1693, "referenceAllele": "G", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019892.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016875381.1:p.Gly342Ter", "hgvsWellDefined": "XP_016875381.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571473" }, { "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019893.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016875382.1:p.Gly342Ter", "hgvsWellDefined": "XP_016875382.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571474" }, { "coordinates": [ { "allele": "T", "end": 3483, "referenceAllele": "G", "start": 3482 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019894.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016875383.1:p.Gly342Ter", "hgvsWellDefined": "XP_016875383.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571475" }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "G", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019895.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_016875384.1:p.Gly342Ter", "hgvsWellDefined": "XP_016875384.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571476" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "G", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019896.1:c.1021G>T" ], "proteinEffect": { "hgvs": "XP_016875385.1:p.Gly341Ter", "hgvsWellDefined": "XP_016875385.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571477" }, { "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "G", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019897.1:c.919G>T" ], "proteinEffect": { "hgvs": "XP_016875386.1:p.Gly307Ter", "hgvsWellDefined": "XP_016875386.1:p.Gly308_Asn716delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571478" }, { "coordinates": [ { "allele": "T", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019898.1:c.916G>T" ], "proteinEffect": { "hgvs": "XP_016875387.1:p.Gly306Ter", "hgvsWellDefined": "XP_016875387.1:p.Gly307_Asn715delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571479" }, { "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "G", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019899.1:c.916G>T" ], "proteinEffect": { "hgvs": "XP_016875388.1:p.Gly306Ter", "hgvsWellDefined": "XP_016875388.1:p.Gly307_Asn715delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571480" }, { "coordinates": [ { "allele": "T", "end": 1832, "referenceAllele": "G", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019900.1:c.916G>T" ], "proteinEffect": { "hgvs": "XP_016875389.1:p.Gly306Ter", "hgvsWellDefined": "XP_016875389.1:p.Gly307_Asn715delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571481" }, { "coordinates": [ { "allele": "T", "end": 6288, "referenceAllele": "G", "start": 6287 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019901.1:c.916G>T" ], "proteinEffect": { "hgvs": "XP_016875390.1:p.Gly306Ter", "hgvsWellDefined": "XP_016875390.1:p.Gly307_Asn715delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571482" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019902.1:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_016875391.1:p.Gly355Ter", "hgvsWellDefined": "XP_016875391.1:p.Gly356_Thr391delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571483" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_017019903.1:c.1060G>T" ], "proteinEffect": { "hgvs": "XP_016875392.1:p.Gly354Ter", "hgvsWellDefined": "XP_016875392.1:p.Gly355_Thr390delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571484" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449150.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304918.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304918.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582708" }, { "coordinates": [ { "allele": "T", "end": 6975, "referenceAllele": "G", "start": 6974 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449151.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304919.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304919.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582709" }, { "coordinates": [ { "allele": "T", "end": 1714, "referenceAllele": "G", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449152.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304920.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304920.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582710" }, { "coordinates": [ { "allele": "T", "end": 1869, "referenceAllele": "G", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449153.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304921.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304921.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582711" }, { "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449154.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304922.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304922.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582712" }, { "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "G", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449155.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304923.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304923.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582713" }, { "coordinates": [ { "allele": "T", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449157.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304925.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304925.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582715" }, { "coordinates": [ { "allele": "T", "end": 1638, "referenceAllele": "G", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449158.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304926.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304926.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582716" }, { "coordinates": [ { "allele": "T", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449159.1:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_024304927.1:p.Gly342Ter", "hgvsWellDefined": "XP_024304927.1:p.Gly343_Asn751delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582717" }, { "coordinates": [ { "allele": "T", "end": 1639, "referenceAllele": "G", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449160.1:c.1021G>T" ], "proteinEffect": { "hgvs": "XP_024304928.1:p.Gly341Ter", "hgvsWellDefined": "XP_024304928.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582718" }, { "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "G", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449161.1:c.1021G>T" ], "proteinEffect": { "hgvs": "XP_024304929.1:p.Gly341Ter", "hgvsWellDefined": "XP_024304929.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582719" }, { "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449163.1:c.919G>T" ], "proteinEffect": { "hgvs": "XP_024304931.1:p.Gly307Ter", "hgvsWellDefined": "XP_024304931.1:p.Gly308_Asn716delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582721" }, { "coordinates": [ { "allele": "T", "end": 7051, "referenceAllele": "G", "start": 7050 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449164.1:c.919G>T" ], "proteinEffect": { "hgvs": "XP_024304932.1:p.Gly307Ter", "hgvsWellDefined": "XP_024304932.1:p.Gly308_Asn716delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582722" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "G", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "XM_024449165.1:c.919G>T" ], "proteinEffect": { "hgvs": "XP_024304933.1:p.Gly307Ter", "hgvsWellDefined": "XP_024304933.1:p.Gly308_Asn716delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582723" }, { "@id": "http://reg.genome.network/allele/PA915987861", "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_006940.6:c.1060G>T" ], "proteinEffect": { "hgvs": "NP_008871.3:p.Gly354Ter", "hgvsWellDefined": "NP_008871.3:p.Gly355_Asn763delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667704", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000451604.7:c.1060G>T" }, "RefSeq": { "hgvs": "NM_006940.6:c.1060G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398273.2:p.Gly354Ter" }, "RefSeq": { "hgvs": "NP_008871.3:p.Gly354Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826481424", "coordinates": [ { "allele": "T", "end": 1512, "referenceAllele": "G", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001261414.3:c.1021G>T" ], "proteinEffect": { "hgvs": "NP_001248343.1:p.Gly341Ter", "hgvsWellDefined": "NP_001248343.1:p.Gly342_Asn642delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680884" }, { "@id": "http://reg.genome.network/allele/PA2827349870", "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001330785.2:c.955G>T" ], "proteinEffect": { "hgvs": "NP_001317714.1:p.Gly319Ter", "hgvsWellDefined": "NP_001317714.1:p.Gly320_Asn728delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687118" }, { "@id": "http://reg.genome.network/allele/PA351635", "coordinates": [ { "allele": "T", "end": 1437, "referenceAllele": "G", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_152989.5:c.1021G>T" ], "proteinEffect": { "hgvs": "NP_694534.1:p.Gly341Ter", "hgvsWellDefined": "NP_694534.1:p.Gly342_Asn750delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700302" }, { "@id": "http://reg.genome.network/allele/PA2826481552", "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN011201", "geneNCBI_id": 6660, "geneSymbol": "SOX5", "hgvs": [ "NM_001261415.3:c.1030G>T" ], "proteinEffect": { "hgvs": "NP_001248344.1:p.Gly344Ter", "hgvsWellDefined": "NP_001248344.1:p.Gly345_Asn753delinsLysLeuProGlyIleProGlnGlyAsnLeuGlyAlaAlaValSerProThrSerIleHisThrAspLysSerThrAsnSerProProProLysSerLysAspGluValAlaGlnProLeuAsnLeuSerAlaLysProLysThrSerAspGlyLysSerProThrSerProThrSerProHisMetProAlaLeuArgIleAsnSerGlyAlaGlyProLeuLysAlaSerValProAlaAlaLeuAlaSerProSerAlaArgValSerThrIleGlyTyrLeuAsnAspHisAspAlaValThrLysAlaIleGlnGluAlaArgGlnMetLysGluGlnLeuArgArgGluGlnGlnValLeuAspGlyLysValAlaValValAsnSerLeuGlyLeuAsnAsnCysArgThrGluLysGluLysThrThrLeuGluSerLeuThrGlnGlnLeuAlaValLysGlnAsnGluGluGlyLysPheSerHisAlaMetMetAspPheAsnLeuSerGlyAspSerAspGlySerAlaGlyValSerGluSerArgIleTyrArgGluSerArgGlyArgGlySerAsnGluProHisIleLysArgProMetAsnAlaPheMetValTrpAlaLysAspGluArgArgLysIleLeuGlnAlaPheProAspMetHisAsnSerAsnIleSerLysIleLeuGlySerArgTrpLysAlaMetThrAsnLeuGluLysGlnProTyrTyrGluGluGlnAlaArgLeuSerLysGlnHisLeuGluLysTyrProAspTyrLysTyrLysProArgProLysArgThrCysLeuValAspGlyLysLysLeuArgIleGlyGluTyrLysAlaIleMetArgAsnArgArgGlnGluMetArgGlnTyrPheAsnValGlyGlnGlnAlaGlnIleProIleAlaThrAlaGlyValValTyrProGlyAlaIleAlaMetAlaGlyMetProSerProHisLeuProSerGluHisSerSerValSerSerSerProGluProGlyMetProValIleGlnSerThrTyrGlyValLysGlyGluGluProHisIleLysGluGluIleGlnAlaGluAspIleAsnGlyGluIleTyrAspGluTyrAspGluGluGluAspAspProAspValAspTyrGlySerAspSerGluAsnHisIleAlaGlyGlnAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715013" } ], "type": "nucleotide" }