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} ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "ENST00000370674.3:c.168T>A" ], "proteinEffect": { "hgvs": "ENSP00000359708.1:p.Tyr56Ter", "hgvsWellDefined": "ENSP00000359708.1:p.Tyr56Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS268191" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "T", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "ENST00000370676.7:c.216T>A" ], "proteinEffect": { "hgvs": "ENSP00000359710.3:p.Tyr72Ter", "hgvsWellDefined": 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], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "XM_006724747.2:c.168T>A" ], "proteinEffect": { "hgvs": "XP_006724810.1:p.Tyr56Ter", "hgvsWellDefined": "XP_006724810.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075692" }, { 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], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "XM_006724747.3:c.168T>A" ], "proteinEffect": { "hgvs": "XP_006724810.1:p.Tyr56Ter", "hgvsWellDefined": "XP_006724810.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541060" }, { 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"XP_016884846.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578913" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "T", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ 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"XP_024308122.1:p.Tyr56_Pro323delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyLysArgThrValSerArgValSerHisProValSerLysAlaArgLysProProValCysHisGlyLysArgLeuProLeuThrLeuPheProSerAlaAsnLeuArgGlyArgHisProGlyGlyGluArgThrCysProSerTrpValValValLeuTyrArgLysAsnArgSerLeuAlaAlaProArgGlyProGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585849" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "T", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "XM_024452355.1:c.168T>A" ], "proteinEffect": { "hgvs": "XP_024308123.1:p.Tyr56Ter", "hgvsWellDefined": "XP_024308123.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585850" }, { "@id": "http://reg.genome.network/allele/PA2829322937", "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "T", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001449.5:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001440.2:p.Tyr56Ter", "hgvsWellDefined": "NP_001440.2:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664996" }, { "@id": "http://reg.genome.network/allele/PA2825933552", "coordinates": [ { "allele": "A", "end": 282, "referenceAllele": "T", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001159699.2:c.216T>A" ], "proteinEffect": { "hgvs": "NP_001153171.1:p.Tyr72Ter", "hgvsWellDefined": "NP_001153171.1:p.Tyr72_Leu296delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678086", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000370683.6:c.216T>A" }, "RefSeq": { "hgvs": "NM_001159699.2:c.216T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000359717.1:p.Tyr72Ter" }, "RefSeq": { "hgvs": "NP_001153171.1:p.Tyr72Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825933803", "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "T", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001159700.2:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001153172.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001153172.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678087" }, { "@id": "http://reg.genome.network/allele/PA1139687491", "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "T", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 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{ "allele": "A", "end": 364, "referenceAllele": "T", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001159702.3:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001153174.1:p.Tyr56Ter", "hgvsWellDefined": 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"NP_001153175.1:p.Tyr56_Pro194delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678090" }, { "@id": "http://reg.genome.network/allele/PA2827341008", "coordinates": [ { "allele": "A", "end": 282, "referenceAllele": "T", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001330659.2:c.216T>A" ], "proteinEffect": { "hgvs": "NP_001317588.1:p.Tyr72Ter", "hgvsWellDefined": "NP_001317588.1:p.Tyr72_Pro210delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687055" }, { "@id": "http://reg.genome.network/allele/PA2828317002", "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369326.1:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356255.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356255.1:p.Tyr56_Pro323delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyLysArgThrValSerArgValSerHisProValSerLysAlaArgLysProProValCysHisGlyLysArgLeuProLeuThrLeuPheProSerAlaAsnLeuArgGlyArgHisProGlyGlyGluArgThrCysProSerTrpValValValLeuTyrArgLysAsnArgSerLeuAlaAlaProArgGlyProGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691578" }, { "@id": "http://reg.genome.network/allele/PA2828317280", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "T", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369327.1:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356256.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356256.1:p.Tyr56_Pro323delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyLysArgThrValSerArgValSerHisProValSerLysAlaArgLysProProValCysHisGlyLysArgLeuProLeuThrLeuPheProSerAlaAsnLeuArgGlyArgHisProGlyGlyGluArgThrCysProSerTrpValValValLeuTyrArgLysAsnArgSerLeuAlaAlaProArgGlyProGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691579" }, { "@id": "http://reg.genome.network/allele/PA2828317558", "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "T", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369328.1:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356257.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356257.1:p.Tyr56_Pro323delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyLysArgThrValSerArgValSerHisProValSerLysAlaArgLysProProValCysHisGlyLysArgLeuProLeuThrLeuPheProSerAlaAsnLeuArgGlyArgHisProGlyGlyGluArgThrCysProSerTrpValValValLeuTyrArgLysAsnArgSerLeuAlaAlaProArgGlyProGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691580" }, { "@id": "http://reg.genome.network/allele/PA2828317819", "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369329.1:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356258.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356258.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691581" }, { "@id": "http://reg.genome.network/allele/PA2828318115", "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "T", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369330.1:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356259.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356259.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691582" }, { "@id": "http://reg.genome.network/allele/PA2828318412", "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "T", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369331.1:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356260.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356260.1:p.Tyr56_Leu280delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyPheGlyLysGlySerSerValValAlaTyrGluGlyGlnSerTrpHisAspTyrCysPheHisCysLysLysCysSerValAsnLeuAlaAsnLysArgPheValPheHisGlnGluGlnValTyrCysProAspCysAlaLysLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691583" }, { "@id": "http://reg.genome.network/allele/PA2828317280", "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "T", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NM_001369327.2:c.168T>A" ], "proteinEffect": { "hgvs": "NP_001356256.1:p.Tyr56Ter", "hgvsWellDefined": "NP_001356256.1:p.Tyr56_Pro323delinsLysAsnArgPheTrpHisAspThrCysPheArgCysAlaLysCysLeuHisProLeuAlaAsnGluThrPheValAlaLysAspAsnLysIleLeuCysAsnLysCysThrThrArgGluAspSerProLysCysLysGlyCysPheLysAlaIleValAlaGlyAspGlnAsnValGluTyrLysGlyThrValTrpHisLysAspCysPheThrCysSerAsnCysLysGlnValIleGlyThrGlySerPhePheProLysGlyGluAspPheTyrCysValThrCysHisGluThrLysPheAlaLysHisCysValLysCysAsnLysAlaIleThrSerGlyGlyIleThrTyrGlnAspGlnProTrpHisAlaAspCysPheValCysValThrCysSerLysLysLeuAlaGlyGlnArgPheThrAlaValGluAspGlnTyrTyrCysValAspCysTyrLysAsnPheValAlaLysLysCysAlaGlyCysLysAsnProIleThrGlyLysArgThrValSerArgValSerHisProValSerLysAlaArgLysProProValCysHisGlyLysArgLeuProLeuThrLeuPheProSerAlaAsnLeuArgGlyArgHisProGlyGlyGluArgThrCysProSerTrpValValValLeuTyrArgLysAsnArgSerLeuAlaAlaProArgGlyProGlyLeuValLysAlaProValTrpTrpProMetLysAspAsnProGlyThrThrThrAlaSerThrAlaLysAsnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721142" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "T", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN003702", "geneNCBI_id": 2273, "geneSymbol": "FHL1", "hgvs": [ "NR_027621.2:n.579T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730231" } ], "type": "nucleotide" }