{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA400468997", "communityStandardTitle": [ "NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=801173[alleleid]", "alleleId": 801173, "preferredName": "NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812875", "RCV": [ "RCV001003778" ], "variationId": 812875 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.59533972G>T?assembly=hg19", "id": "chr17:g.59533972G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.61456611G>T?assembly=hg38", "id": "chr17:g.61456611G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1397811125", "rs": 1397811125 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 61456611, "referenceAllele": "G", "start": 61456610 } ], "hgvs": [ "NC_000017.11:g.61456611G>T", "CM000679.2:g.61456611G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 59533972, "referenceAllele": "G", "start": 59533971 } ], "hgvs": [ "NC_000017.10:g.59533972G>T", "CM000679.1:g.59533972G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 56888754, "referenceAllele": "G", "start": 56888753 } ], "hgvs": [ "NC_000017.9:g.56888754G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 5166, "referenceAllele": "G", "start": 5165 } ], "hgvs": [ "NG_008080.1:g.5166G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000825" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "G", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "ENST00000642491.1:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000495714.1:p.Gly41Ter", "hgvsWellDefined": "ENSP00000495714.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766772" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "ENST00000644296.1:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000495986.1:p.Gly41Ter", "hgvsWellDefined": "ENSP00000495986.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644296.1:c.121G>T" }, "RefSeq": { "hgvs": "NM_001321120.2:c.121G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495986.1:p.Gly41Ter" }, "RefSeq": { "hgvs": "NP_001308049.1:p.Gly41Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "G", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "ENST00000240335.1:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000240335.1:p.Gly41Ter", "hgvsWellDefined": "ENSP00000240335.1:p.Gly41_Gly545delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249133" }, { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "ENST00000393853.8:c.121G>T" ], "proteinEffect": { "hgvs": "ENSP00000377435.3:p.Gly41Ter", "hgvsWellDefined": "ENSP00000377435.3:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275845" }, { "coordinates": [ { "allele": "T", "end": 54, "endIntronDirection": "-", "endIntronOffset": 12, "referenceAllele": "G", "start": 54, "startIntronDirection": "-", "startIntronOffset": 13 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "ENST00000589003.5:c.-125-13G>T" ], "proteinEffect": { "hgvs": "ENSP00000467588.1:n.-125-13G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391185" }, { "@id": "http://reg.genome.network/allele/PA916067034", "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "G", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "NM_018488.2:c.121G>T" ], "proteinEffect": { "hgvs": "NP_060958.2:p.Gly41Ter", "hgvsWellDefined": "NP_060958.2:p.Gly41_Gly545delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035787" }, { "coordinates": [ { "allele": "T", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_005257835.3:c.121G>T" ], "proteinEffect": { "hgvs": "XP_005257892.2:p.Gly41Ter", "hgvsWellDefined": "XP_005257892.2:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061863" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_005257837.2:c.121G>T" ], "proteinEffect": { "hgvs": "XP_005257894.1:p.Gly41Ter", "hgvsWellDefined": "XP_005257894.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061864" }, { "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525490.1:c.310G>T" ], "proteinEffect": { "hgvs": "XP_011523792.1:p.Gly104Ter", "hgvsWellDefined": "XP_011523792.1:p.Gly104_Gly609delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092609" }, { "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525491.1:c.310G>T" ], "proteinEffect": { "hgvs": "XP_011523793.1:p.Gly104Ter", "hgvsWellDefined": "XP_011523793.1:p.Gly104_Gly608delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092610" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525492.1:c.121G>T" ], "proteinEffect": { "hgvs": "XP_011523794.1:p.Gly41Ter", "hgvsWellDefined": "XP_011523794.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092611" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525493.1:c.121G>T" ], "proteinEffect": { "hgvs": "XP_011523795.1:p.Gly41Ter", "hgvsWellDefined": "XP_011523795.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092612" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525494.1:c.121G>T" ], "proteinEffect": { "hgvs": "XP_011523796.1:p.Gly41Ter", "hgvsWellDefined": "XP_011523796.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092613" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525495.1:c.310G>T" ], "proteinEffect": { "hgvs": "XP_011523797.1:p.Gly104Ter", "hgvsWellDefined": "XP_011523797.1:p.Gly104_Ser417delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgGlyCysLeuArgLeuLeuSerTrpTyrAsnGlyArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092614" }, { "@id": "http://reg.genome.network/allele/PA2827075372", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "NM_001321120.2:c.121G>T" ], "proteinEffect": { "hgvs": "NP_001308049.1:p.Gly41Ter", "hgvsWellDefined": "NP_001308049.1:p.Gly41_Gly546delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514053", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644296.1:c.121G>T" }, "RefSeq": { "hgvs": "NM_001321120.2:c.121G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495986.1:p.Gly41Ter" }, "RefSeq": { "hgvs": "NP_001308049.1:p.Gly41Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916067034", "coordinates": [ { "allele": "T", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "NM_018488.3:c.121G>T" ], "proteinEffect": { "hgvs": "NP_060958.2:p.Gly41Ter", "hgvsWellDefined": "NP_060958.2:p.Gly41_Gly545delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525911" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525490.2:c.310G>T" ], "proteinEffect": { "hgvs": "XP_011523792.1:p.Gly104Ter", "hgvsWellDefined": "XP_011523792.1:p.Gly104_Gly609delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAlaAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547912" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525491.2:c.310G>T" ], "proteinEffect": { "hgvs": "XP_011523793.1:p.Gly104Ter", "hgvsWellDefined": "XP_011523793.1:p.Gly104_Gly608delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgAspGlyThrArgHisLeuAspLeuProCysLysArgSerTyrLeuGluAlaProSerSerValGlyGluAspHisTyrPheArgSerProProProTyrAspGlnGlnMetLeuSerProSerTyrCysSerGluValThrProArgGluAlaCysMetTyrSerGlySerGlyProGluIleAlaGlyValSerGlyValAspAspLeuProProProProLeuSerCysAsnMetTrpThrSerValSerProTyrThrSerTyrSerValGlnThrMetGluThrValProTyrGlnProPheProThrHisPheThrAlaThrThrMetMetProArgLeuProThrLeuSerAlaGlnSerSerGlnProProGlyAsnAlaHisPheSerValTyrAsnGlnLeuSerGlnSerGlnValArgGluArgGlyProSerAlaSerPheProArgGluArgGlyLeuProGlnGlyCysGluArgLysProProSerProHisLeuAsnAlaAlaAsnGluPheLeuTyrSerGlnThrPheSerLeuSerArgGluSerSerLeuGlnTyrHisSerGlyMetGlyThrValGluAsnTrpThrAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547913" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN011603", "geneNCBI_id": 9496, "geneSymbol": "TBX4", "hgvs": [ "XM_011525495.2:c.310G>T" ], "proteinEffect": { "hgvs": "XP_011523797.1:p.Gly104Ter", "hgvsWellDefined": "XP_011523797.1:p.Gly104_Ser417delinsAlaAlaLeuGlySerProProGlyProGlyAlaAspValValAlaAlaAlaAlaAlaGluGlnThrIleGluAsnIleLysValGlyLeuHisGluLysGluLeuTrpLysLysPheHisGluAlaGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyMetAsnProLysThrLysTyrIleLeuLeuIleAspIleValProAlaAspAspHisArgTyrLysPheCysAspAsnLysTrpMetValAlaGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnAlaPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrSerPheIleSerValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspSerAspLeuArgValAlaArgLeuGlnSerLysGluTyrProValIleSerLysSerIleMetArgGlnArgLeuIleSerProGlnLeuSerAlaThrProAspValGlyProLeuLeuGlyThrHisGlnAlaLeuGlnHisTyrGlnHisGluAsnGlyAlaHisSerGlnLeuAlaGluProGlnAspLeuProLeuSerThrPheProThrGlnArgAspSerSerLeuPheTyrHisCysLeuLysArgArgGlyCysLeuArgLeuLeuSerTrpTyrAsnGlyArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547914" } ], "type": "nucleotide" }