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"ENSP00000344314.6:p.Arg41_Trp1012delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340096.11:c.121C>T" }, "RefSeq": { "hgvs": "NM_003611.3:c.121C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344314.6:p.Arg41Ter" }, "RefSeq": { "hgvs": "NP_003602.1:p.Arg41Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000340096.10:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000344314.6:p.Arg41Ter", "hgvsWellDefined": "ENSP00000344314.6:p.Arg41_Trp1012delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261020" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000380550.6:c.121C>T" ], "proteinEffect": { "hgvs": "ENSP00000369923.3:p.Arg41Ter", "hgvsWellDefined": "ENSP00000369923.3:p.Arg41_Trp972delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272973" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000380567.5:c.-425C>T" ], "proteinEffect": { "hgvs": "ENSP00000369941.1:n.-425C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS272981" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000398395.7:c.-414C>T" ], "proteinEffect": { "hgvs": "ENSP00000381432.4:n.-414C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS278249" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000485052.5:n.625C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324174" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000490265.5:n.432C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328136" }, { "@id": "http://reg.genome.network/allele/PA343959", "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_003611.2:c.121C>T" ], "proteinEffect": { "hgvs": "NP_003602.1:p.Arg41Ter", "hgvsWellDefined": "NP_003602.1:p.Arg41_Trp1012delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028841" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274599.2:c.142C>T" ], "proteinEffect": { "hgvs": "XP_005274656.1:p.Arg48Ter", "hgvsWellDefined": "XP_005274656.1:p.Arg48_Trp1019delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068013" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274602.2:c.142C>T" ], "proteinEffect": { "hgvs": "XP_005274659.1:p.Arg48Ter", "hgvsWellDefined": "XP_005274659.1:p.Arg48_Trp982delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068014" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274603.2:c.142C>T" ], "proteinEffect": { "hgvs": "XP_005274660.1:p.Arg48Ter", "hgvsWellDefined": "XP_005274660.1:p.Arg48_Trp979delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068015" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274604.2:c.121C>T" ], "proteinEffect": { "hgvs": "XP_005274661.1:p.Arg41Ter", "hgvsWellDefined": "XP_005274661.1:p.Arg41_Trp972delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068016" }, { "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274606.2:c.-24C>T" ], "proteinEffect": { "hgvs": "XP_005274663.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS068017" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545591.1:c.142C>T" ], "proteinEffect": { "hgvs": "XP_011543893.1:p.Arg48Ter", "hgvsWellDefined": "XP_011543893.1:p.Arg48_Arg1006delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112491" }, { "coordinates": [ { "allele": "T", "end": 642, "endIntronDirection": "-", "endIntronOffset": 168, "referenceAllele": "C", "start": 642, "startIntronDirection": "-", "startIntronOffset": 169 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545592.1:c.98-169C>T" ], "proteinEffect": { "hgvs": "XP_011543894.1:n.98-169C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS112492" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545593.1:c.142C>T" ], "proteinEffect": { "hgvs": "XP_011543895.1:p.Arg48Ter", "hgvsWellDefined": "XP_011543895.1:p.Arg48_Thr931delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgValIleSerMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112493" }, { "coordinates": [ { "allele": "T", "end": 89, "endIntronDirection": "-", "endIntronOffset": 168, "referenceAllele": "C", "start": 89, "startIntronDirection": "-", "startIntronOffset": 169 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545594.1:c.-32-169C>T" ], "proteinEffect": { "hgvs": "XP_011543896.1:n.-32-169C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS112494" }, { "coordinates": [ { "allele": "T", "end": 79, "endIntronDirection": "-", "endIntronOffset": 168, "referenceAllele": "C", "start": 79, "startIntronDirection": "-", "startIntronOffset": 169 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545595.1:c.-32-169C>T" ], "proteinEffect": { "hgvs": "XP_011543897.1:n.-32-169C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS112495" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545596.1:c.142C>T" ], "proteinEffect": { "hgvs": "XP_011543898.1:p.Arg48Ter", "hgvsWellDefined": "XP_011543898.1:p.Arg48_Glu836delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluTer" 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"proteinEffect": { "hgvs": "NP_001317138.1:p.Arg41Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452469.1:c.-1819C>T" ], "proteinEffect": { "hgvs": "XP_024308237.1:n.-1819C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585962" }, { "coordinates": [ { "allele": "T", "end": 455, "endIntronDirection": "-", "endIntronOffset": 168, "referenceAllele": "C", "start": 455, "startIntronDirection": "-", "startIntronOffset": 169 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452470.1:c.-1650-169C>T" ], "proteinEffect": { "hgvs": "XP_024308238.1:n.-1650-169C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585963" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452471.1:c.-1819C>T" ], "proteinEffect": { "hgvs": "XP_024308239.1:n.-1819C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585964" }, { "@id": "http://reg.genome.network/allele/PA343959", "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_003611.3:c.121C>T" ], "proteinEffect": { "hgvs": "NP_003602.1:p.Arg41Ter", "hgvsWellDefined": "NP_003602.1:p.Arg41_Trp1012delinsAsnGlnLeuIleHisGluLeuMetHisProValLeuSerGlyGluLeuGlnProArgSerIleSerValGluGlySerSerLeuLeuIleGlyAlaSerAsnSerLeuValAlaAspHisLeuGlnArgCysGlyTyrGluTyrSerLeuSerValPhePheProGluSerGlyLeuAlaLysGluLysValPheThrMetGlnAspLeuLeuGlnLeuIleLysIleAsnProThrSerSerLeuTyrLysSerLeuValSerGlySerAspLysGluAsnGlnLysGlyPheLeuMetHisPheLeuLysGluLeuAlaGluTyrHisGlnAlaLysGluSerCysAsnMetGluThrGlnThrSerSerThrPheAsnArgAspSerLeuAlaGluLysLeuGlnLeuIleAspAspGlnPheAlaAspAlaTyrProGlnArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" 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