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"ENSP00000502091.1:p.Glu317_Met634delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, 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"ENST00000677389.1:c.949G>T" }, "RefSeq": { "hgvs": "NM_005572.4:c.949G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Glu317Ter" }, "RefSeq": { "hgvs": "NP_005563.1:p.Glu317Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000347559.6:c.949G>T" ], "proteinEffect": { "hgvs": "ENSP00000292304.3:p.Glu317Ter", "hgvsWellDefined": "ENSP00000292304.3:p.Glu317_Met634delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247316" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.8:c.949G>T" ], "proteinEffect": { "hgvs": "ENSP00000355292.5:p.Glu317Ter", "hgvsWellDefined": "ENSP00000355292.5:p.Glu317_Arg487delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247226" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368297.5:c.706G>T" ], "proteinEffect": { "hgvs": "ENSP00000357280.1:p.Glu236Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368298.2:n.213G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266891" }, { "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368299.7:c.949G>T" ], "proteinEffect": { "hgvs": "ENSP00000357282.3:p.Glu317Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS247280" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "G", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.8:c.949G>T" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Glu317Ter", "hgvsWellDefined": "ENSP00000357283.4:p.Glu317_Met664delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247209" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368301.6:c.949G>T" ], "proteinEffect": { "hgvs": "ENSP00000357284.2:p.Glu317Ter", "hgvsWellDefined": "ENSP00000357284.2:p.Glu317_Arg572delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246645" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "G", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000448611.6:c.613G>T" ], "proteinEffect": { "hgvs": "ENSP00000395597.2:p.Glu205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247357" }, { "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000473598.6:c.652G>T" ], "proteinEffect": { "hgvs": "ENSP00000421821.1:p.Glu218Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247207" }, { "coordinates": [ { "allele": "T", "end": 334, "referenceAllele": "G", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.5:n.334G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333133" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "G", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000498722.2:n.181G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334667" }, { "@id": "http://reg.genome.network/allele/PA2826443255", "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.2:c.613G>T" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Glu205Ter", "hgvsWellDefined": "NP_001244303.1:p.Glu205_Pro574delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019616" }, { "@id": "http://reg.genome.network/allele/PA2826657702", "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.1:c.706G>T" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Glu236Ter", "hgvsWellDefined": "NP_001269553.1:p.Glu236_Arg491delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022104" }, { "@id": "http://reg.genome.network/allele/PA2826658963", "coordinates": [ { "allele": "T", "end": 1622, "referenceAllele": "G", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.1:c.949G>T" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Glu317Ter", "hgvsWellDefined": "NP_001269554.1:p.Glu317_Arg572delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022105" }, { "@id": "http://reg.genome.network/allele/PA2826660224", "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.1:c.949G>T" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Glu317Ter", "hgvsWellDefined": "NP_001269555.1:p.Glu317_Met614delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022106" }, { "@id": "http://reg.genome.network/allele/PA2829603446", "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.3:c.949G>T", "LRG_254t1:c.949G>T" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Glu317Ter", "hgvsWellDefined": "NP_005563.1:p.Glu317_Arg572delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030662" }, { "@id": "http://reg.genome.network/allele/PA2830327173", "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.3:c.949G>T" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Glu317Ter", "hgvsWellDefined": "NP_733821.1:p.Glu317_Met664delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042563" }, { "@id": "http://reg.genome.network/allele/PA645457738", "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.3:c.949G>T" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Glu317Ter", "hgvsWellDefined": "NP_733822.1:p.Glu317_Met634delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042564" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509533.1:c.613G>T" ], "proteinEffect": { "hgvs": "XP_011507835.1:p.Glu205Ter", "hgvsWellDefined": "XP_011507835.1:p.Glu205_Met552delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076800" }, { "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "G", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.1:c.325G>T" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Glu109Ter", "hgvsWellDefined": "XP_011507836.1:p.Glu109_Met456delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076801" }, { "coordinates": [ { "allele": "T", "end": 1238, "referenceAllele": "G", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.1:n.1238G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118967" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "G", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.2:c.325G>T" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Glu109Ter", "hgvsWellDefined": "XP_011507836.1:p.Glu109_Met456delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541310" }, { "coordinates": [ { "allele": "T", "end": 1236, "referenceAllele": "G", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.2:n.1236G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606864" }, { "@id": "http://reg.genome.network/allele/PA2830327173", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.4:c.949G>T" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Glu317Ter", "hgvsWellDefined": "NP_733821.1:p.Glu317_Met664delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.949G>T" }, "RefSeq": { "hgvs": "NM_170707.4:c.949G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Glu317Ter" }, "RefSeq": { "hgvs": "NP_733821.1:p.Glu317Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826443255", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.3:c.613G>T" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Glu205Ter", "hgvsWellDefined": "NP_001244303.1:p.Glu205_Pro574delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680726" }, { "@id": "http://reg.genome.network/allele/PA2826660224", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.2:c.949G>T" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Glu317Ter", "hgvsWellDefined": "NP_001269555.1:p.Glu317_Met614delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681840" }, { "@id": "http://reg.genome.network/allele/PA2826657702", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.2:c.706G>T" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Glu236Ter", "hgvsWellDefined": "NP_001269553.1:p.Glu236_Arg491delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715878" }, { "@id": "http://reg.genome.network/allele/PA2826658963", "coordinates": [ { "allele": "T", "end": 1595, "referenceAllele": "G", "start": 1594 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.2:c.949G>T" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Glu317Ter", "hgvsWellDefined": "NP_001269554.1:p.Glu317_Arg572delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715879" }, { "@id": "http://reg.genome.network/allele/PA2829603446", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.4:c.949G>T" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Glu317Ter", "hgvsWellDefined": "NP_005563.1:p.Glu317_Arg572delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727649", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.949G>T" }, "RefSeq": { "hgvs": "NM_005572.4:c.949G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Glu317Ter" }, "RefSeq": { "hgvs": "NP_005563.1:p.Glu317Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645457738", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.4:c.949G>T" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Glu317Ter", "hgvsWellDefined": "NP_733822.1:p.Glu317_Met634delinsAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729502" } ], "type": "nucleotide" }