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"http://reg.genome.network/refseq/RS247353" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "+", "endIntronOffset": 6680, "referenceAllele": "G", "start": 282, "startIntronDirection": "+", "startIntronOffset": 6679 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "ENST00000560402.1:n.282+6680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS375316" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "G", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_001145102.1:c.367G>T" ], "proteinEffect": { "hgvs": "NP_001138574.1:p.Glu123Ter", "hgvsWellDefined": "NP_001138574.1:p.Glu123_Ser320delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013466" }, { "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_001145103.1:c.550G>T" ], "proteinEffect": { "hgvs": "NP_001138575.1:p.Glu184Ter", "hgvsWellDefined": "NP_001138575.1:p.Glu184_Ser381delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013467" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "G", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_001145104.1:c.97G>T" ], "proteinEffect": { "hgvs": "NP_001138576.1:p.Glu33Ter", "hgvsWellDefined": "NP_001138576.1:p.Glu33_Ser230delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013468" }, { "@id": "http://reg.genome.network/allele/PA3082214035", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_005902.3:c.682G>T" ], "proteinEffect": { "hgvs": "NP_005893.1:p.Glu228Ter", "hgvsWellDefined": "NP_005893.1:p.Glu228_Ser425delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030958" }, { "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "G", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "XM_011521559.1:c.550G>T" ], "proteinEffect": { "hgvs": "XP_011519861.1:p.Glu184Ter", "hgvsWellDefined": "XP_011519861.1:p.Glu184_Ser381delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088719" }, { "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "XM_011521560.1:c.535G>T" ], "proteinEffect": { "hgvs": "XP_011519862.1:p.Glu179Ter", "hgvsWellDefined": "XP_011519862.1:p.Glu179_Ser376delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088720" }, { "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "XM_011521559.3:c.550G>T" ], "proteinEffect": { "hgvs": "XP_011519861.1:p.Glu184Ter", "hgvsWellDefined": "XP_011519861.1:p.Glu184_Ser381delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546202" }, { "@id": "http://reg.genome.network/allele/PA3082214035", "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_005902.4:c.682G>T" ], "proteinEffect": { "hgvs": "NP_005893.1:p.Glu228Ter", "hgvsWellDefined": "NP_005893.1:p.Glu228_Ser425delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667197", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000327367.9:c.682G>T" }, "RefSeq": { "hgvs": "NM_005902.4:c.682G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332973.4:p.Glu228Ter" }, "RefSeq": { "hgvs": "NP_005893.1:p.Glu228Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_001145102.2:c.367G>T" ], "proteinEffect": { "hgvs": "NP_001138574.1:p.Glu123Ter", "hgvsWellDefined": "NP_001138574.1:p.Glu123_Ser320delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712751" }, { "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_001145103.2:c.550G>T" ], "proteinEffect": { "hgvs": "NP_001138575.1:p.Glu184Ter", "hgvsWellDefined": "NP_001138575.1:p.Glu184_Ser381delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712752" }, { "coordinates": [ { "allele": "T", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN006769", "geneNCBI_id": 4088, "geneSymbol": "SMAD3", "hgvs": [ "NM_001145104.2:c.97G>T" ], "proteinEffect": { "hgvs": "NP_001138576.1:p.Glu33Ter", "hgvsWellDefined": "NP_001138576.1:p.Glu33_Ser230delinsProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712753" } ], "type": "nucleotide" }