{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341348427", "communityStandardTitle": [ "NM_001918.5(DBT):c.30G>A (p.Trp10Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224369[alleleid]", "alleleId": 3224369, "preferredName": "NM_001918.5(DBT):c.30G>A (p.Trp10Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064163", "RCV": [ "RCV003988751" ], "variationId": 3064163 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.100715347C>T?assembly=hg19", "id": "chr1:g.100715347C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.100249791C>T?assembly=hg38", "id": "chr1:g.100249791C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1250753300", "rs": 1250753300 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-100249791-C-T?dataset=gnomad_r4", "id": "1-100249791-C-T", "variant": "1:100249791 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 100249791, "referenceAllele": "C", "start": 100249790 } ], "hgvs": [ "NC_000001.11:g.100249791C>T", "CM000663.2:g.100249791C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 100715347, "referenceAllele": "C", "start": 100715346 } ], "hgvs": [ "NC_000001.10:g.100715347C>T", "CM000663.1:g.100715347C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 100487935, "referenceAllele": "C", "start": 100487934 } ], "hgvs": [ "NC_000001.9:g.100487935C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 5063, "referenceAllele": "G", "start": 5062 } ], "hgvs": [ "NG_011852.2:g.5063G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002030" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 33, "referenceAllele": "G", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "ENST00000681617.1:c.30G>A" ], "proteinEffect": { "hgvs": "ENSP00000505544.1:p.Trp10Ter", "hgvsWellDefined": "ENSP00000505544.1:p.Trp10_Lys524delinsSerArgAsnAlaGlyLysLeuIleCysValArgTyrPheGlnThrCysGlyAsnValHisValLeuLysProAsnTyrValCysPhePheGlyTyrProSerPheLysTyrSerHisProHisHisPheLeuLysThrThrAlaAlaLeuArgGlyGlnValValGlnPheLysLeuSerAspIleGlyGluGlyIleArgGluValThrValLysGluTrpTyrValLysGluGlyAspThrValSerGlnPheAspSerIleCysGluValGlnSerAspLysAlaSerValThrIleThrSerArgTyrAspGlyValIleLysLysLeuTyrTyrAsnLeuAspAspIleAlaTyrValGlyLysProLeuValAspIleGluThrGluAlaLeuLysAspSerGluGluAspValValGluThrProAlaValSerHisAspGluHisThrHisGlnGluIleLysGlyArgLysThrLeuAlaThrProAlaValArgArgLeuAlaMetGluAsnAsnIleLysLeuSerGluValValGlySerGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaLysGlnGlnMetAsnProLysGlyAsnArgMetMetAlaArgLysMetProArgLysValLysGlnSerCysSerProProThrLeuGlnThrGlyGlnProProThrThrThrIleGluLeuAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781223" }, { "coordinates": [ { "allele": "A", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "ENST00000681780.1:c.-701G>A" ], "proteinEffect": { "hgvs": "ENSP00000505780.1:n.-701G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781383" }, { "coordinates": [ { "allele": "A", "end": 30, "referenceAllele": "G", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "ENST00000370131.3:c.30G>A" ], "proteinEffect": { "hgvs": "ENSP00000359150.3:p.Trp10Ter", "hgvsWellDefined": "ENSP00000359150.3:p.Trp10_Ser320delinsSerArgAsnAlaGlyLysLeuIleCysValArgTyrPheGlnThrCysGlyAsnValHisValLeuLysProAsnTyrValCysPhePheGlyTyrProSerPheLysTyrSerHisProHisHisPheLeuLysThrThrAlaAlaLeuArgGlyGlnValValGlnPheLysLeuSerAspIleGlyGluGlyIleArgGluValThrValLysGluTrpTyrValLysGluGlyAspThrValSerGlnPheAspSerIleCysGluValGlnSerAspLysAlaSerValThrIleThrSerArgTyrAspGlyValIleLysLysLeuTyrTyrAsnLeuAspAspIleAlaTyrValGlyLysProLeuValAspIleGluThrGluAlaLeuLysAspSerGluGluAspValValGluThrProAlaValSerHisAspGluHisThrHisGlnGluIleLysGlyArgLysThrLeuAlaThrProAlaValArgArgLeuAlaMetGluAsnAsnIleLysLeuSerGluValValGlySerGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysTyrTyrPheSerTrpLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267892" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "ENST00000370132.8:c.30G>A" ], "proteinEffect": { "hgvs": "ENSP00000359151.3:p.Trp10Ter", "hgvsWellDefined": "ENSP00000359151.3:p.Trp10_Lys482delinsSerArgAsnAlaGlyLysLeuIleCysValArgTyrPheGlnThrCysGlyAsnValHisValLeuLysProAsnTyrValCysPhePheGlyTyrProSerPheLysTyrSerHisProHisHisPheLeuLysThrThrAlaAlaLeuArgGlyGlnValValGlnPheLysLeuSerAspIleGlyGluGlyIleArgGluValThrValLysGluTrpTyrValLysGluGlyAspThrValSerGlnPheAspSerIleCysGluValGlnSerAspLysAlaSerValThrIleThrSerArgTyrAspGlyValIleLysLysLeuTyrTyrAsnLeuAspAspIleAlaTyrValGlyLysProLeuValAspIleGluThrGluAlaLeuLysAspSerGluGluAspValValGluThrProAlaValSerHisAspGluHisThrHisGlnGluIleLysGlyArgLysThrLeuAlaThrProAlaValArgArgLeuAlaMetGluAsnAsnIleLysLeuSerGluValValGlySerGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267893", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000370132.8:c.30G>A" }, "RefSeq": { "hgvs": "NM_001918.5:c.30G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000359151.3:p.Trp10Ter" }, "RefSeq": { "hgvs": "NP_001909.4:p.Trp10Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 63, "referenceAllele": "G", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NM_001918.3:c.30G>A" ], "proteinEffect": { "hgvs": "NP_001909.3:p.Trp10Ter", "hgvsWellDefined": "NP_001909.3:p.Trp10_Lys482delinsSerArgAsnAlaGlyLysLeuIleCysValArgTyrPheGlnThrCysGlyAsnValHisValLeuLysProAsnTyrValCysPhePheGlyTyrProSerPheLysTyrSerHisProHisHisPheLeuLysThrThrAlaAlaLeuArgGlyGlnValValGlnPheLysLeuSerAspIleGlyGluGlyIleArgGluValThrValLysGluTrpTyrValLysGluGlyAspThrValSerGlnPheAspSerIleCysGluValGlnSerAspLysAlaSerValThrIleThrSerArgTyrAspGlyValIleLysLysLeuTyrTyrAsnLeuAspAspIleAlaTyrValGlyLysProLeuValAspIleGluThrGluAlaLeuLysAspSerGluGluAspValValGluThrProAlaValSerHisAspGluHisThrHisGlnGluIleLysGlyArgLysThrLeuAlaThrProAlaValArgArgLeuAlaMetGluAsnAsnIleLysLeuSerGluValValGlySerGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValGlyGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027245" }, { "coordinates": [ { "allele": "A", "end": 73, "referenceAllele": "G", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "XM_005270545.2:c.-701G>A" ], "proteinEffect": { "hgvs": "XP_005270602.1:n.-701G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS066563" }, { "coordinates": [ { "allele": "A", "end": 50, "referenceAllele": "G", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "XR_946560.1:n.50G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140144" }, { "coordinates": [ { "allele": "A", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "XM_005270545.4:c.-701G>A" ], "proteinEffect": { "hgvs": "XP_005270602.1:n.-701G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS536955" }, { "coordinates": [ { "allele": "A", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "XM_017000468.2:c.-761G>A" ], "proteinEffect": { "hgvs": "XP_016855957.1:n.-761G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS556839" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "XR_946560.3:n.47G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614380" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NM_001918.4:c.30G>A" ], "proteinEffect": { "hgvs": "NP_001909.3:p.Trp10Ter", "hgvsWellDefined": "NP_001909.3:p.Trp10_Lys482delinsSerArgAsnAlaGlyLysLeuIleCysValArgTyrPheGlnThrCysGlyAsnValHisValLeuLysProAsnTyrValCysPhePheGlyTyrProSerPheLysTyrSerHisProHisHisPheLeuLysThrThrAlaAlaLeuArgGlyGlnValValGlnPheLysLeuSerAspIleGlyGluGlyIleArgGluValThrValLysGluTrpTyrValLysGluGlyAspThrValSerGlnPheAspSerIleCysGluValGlnSerAspLysAlaSerValThrIleThrSerArgTyrAspGlyValIleLysLysLeuTyrTyrAsnLeuAspAspIleAlaTyrValGlyLysProLeuValAspIleGluThrGluAlaLeuLysAspSerGluGluAspValValGluThrProAlaValSerHisAspGluHisThrHisGlnGluIleLysGlyArgLysThrLeuAlaThrProAlaValArgArgLeuAlaMetGluAsnAsnIleLysLeuSerGluValValGlySerGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValGlyGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665247" }, { "@id": "http://reg.genome.network/allele/PA2573224030", "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NM_001918.5:c.30G>A" ], "proteinEffect": { "hgvs": "NP_001909.4:p.Trp10Ter", "hgvsWellDefined": "NP_001909.4:p.Trp10_Lys482delinsSerArgAsnAlaGlyLysLeuIleCysValArgTyrPheGlnThrCysGlyAsnValHisValLeuLysProAsnTyrValCysPhePheGlyTyrProSerPheLysTyrSerHisProHisHisPheLeuLysThrThrAlaAlaLeuArgGlyGlnValValGlnPheLysLeuSerAspIleGlyGluGlyIleArgGluValThrValLysGluTrpTyrValLysGluGlyAspThrValSerGlnPheAspSerIleCysGluValGlnSerAspLysAlaSerValThrIleThrSerArgTyrAspGlyValIleLysLysLeuTyrTyrAsnLeuAspAspIleAlaTyrValGlyLysProLeuValAspIleGluThrGluAlaLeuLysAspSerGluGluAspValValGluThrProAlaValSerHisAspGluHisThrHisGlnGluIleLysGlyArgLysThrLeuAlaThrProAlaValArgArgLeuAlaMetGluAsnAsnIleLysLeuSerGluValValGlySerGlyLysAspGlyArgIleLeuLysGluAspIleLeuAsnTyrLeuGluLysGlnThrGlyAlaIleLeuProProSerProLysValGluIleMetProProProProLysProLysAspMetThrValProIleLeuValSerLysProProValPheThrGlyLysAspLysThrGluProIleLysGlyPheGlnLysAlaMetValLysThrMetSerAlaAlaLeuLysIleProHisPheGlyTyrCysAspGluIleAspLeuThrGluLeuValLysLeuArgGluGluLeuLysProIleAlaPheAlaArgGlyIleLysLeuSerPheMetProPhePheLeuLysAlaAlaSerLeuGlyLeuLeuGlnPheProIleLeuAsnAlaSerValAspGluAsnCysGlnAsnIleThrTyrLysAlaSerHisAsnIleGlyIleAlaMetAspThrGluGlnGlyLeuIleValProAsnValLysAsnValGlnIleCysSerIlePheAspIleAlaThrGluLeuAsnArgLeuGlnLysLeuGlySerValSerGlnLeuSerThrThrAspLeuThrGlyGlyThrPheThrLeuSerAsnIleGlySerIleGlyGlyThrPheAlaLysProValIleMetProProGluValAlaIleGlyAlaLeuGlySerIleLysAlaIleProArgPheAsnGlnLysGlyGluValTyrLysAlaGlnIleMetAsnValSerTrpSerAlaAspHisArgValIleAspGlyAlaThrMetSerArgPheSerAsnLeuTrpLysSerTyrLeuGluAsnProAlaPheMetLeuLeuAspLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727225", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000370132.8:c.30G>A" }, "RefSeq": { "hgvs": "NM_001918.5:c.30G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000359151.3:p.Trp10Ter" }, "RefSeq": { "hgvs": "NP_001909.4:p.Trp10Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NM_001399969.1:c.-701G>A" ], "proteinEffect": { "hgvs": "NP_001386898.1:n.-701G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS783390" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NM_001399972.1:c.-574G>A" ], "proteinEffect": { "hgvs": "NP_001386901.1:n.-574G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS783393" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NR_174363.1:n.44G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784817" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NR_174364.1:n.44G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784818" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NR_174365.1:n.44G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784819" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "G", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN002698", "geneNCBI_id": 1629, "geneSymbol": "DBT", "hgvs": [ "NR_174366.1:n.44G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784820" } ], "type": "nucleotide" }