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}, "referenceSequence": "http://reg.genome.network/refseq/RS272973" }, { "coordinates": [ { "allele": "T", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000380567.5:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000369941.1:p.Gln49Ter", "hgvsWellDefined": "ENSP00000369941.1:p.Gln49_Trp872delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272981" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000398395.7:c.154C>T" ], "proteinEffect": { "hgvs": "ENSP00000381432.4:p.Gln52Ter", "hgvsWellDefined": "ENSP00000381432.4:p.Gln52_Pro338delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278249" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000490265.5:n.876C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328136" }, { "@id": "http://reg.genome.network/allele/PA2829459814", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_003611.2:c.565C>T" ], "proteinEffect": { "hgvs": "NP_003602.1:p.Gln189Ter", "hgvsWellDefined": "NP_003602.1:p.Gln189_Trp1012delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028841" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274599.2:c.586C>T" ], "proteinEffect": { "hgvs": "XP_005274656.1:p.Gln196Ter", "hgvsWellDefined": "XP_005274656.1:p.Gln196_Trp1019delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068013" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274602.2:c.586C>T" ], "proteinEffect": { "hgvs": "XP_005274659.1:p.Gln196Ter", "hgvsWellDefined": "XP_005274659.1:p.Gln196_Trp982delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068014" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274603.2:c.586C>T" ], "proteinEffect": { "hgvs": "XP_005274660.1:p.Gln196Ter", "hgvsWellDefined": "XP_005274660.1:p.Gln196_Trp979delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068015" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274604.2:c.565C>T" ], "proteinEffect": { "hgvs": "XP_005274661.1:p.Gln189Ter", "hgvsWellDefined": "XP_005274661.1:p.Gln189_Trp972delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068016" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274606.2:c.421C>T" ], "proteinEffect": { "hgvs": "XP_005274663.1:p.Gln141Ter", "hgvsWellDefined": "XP_005274663.1:p.Gln141_Trp964delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068017" }, { "coordinates": [ { "allele": "T", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274607.3:c.145C>T" ], "proteinEffect": { "hgvs": "XP_005274664.1:p.Gln49Ter", "hgvsWellDefined": "XP_005274664.1:p.Gln49_Trp872delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068018" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545591.1:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011543893.1:p.Gln196Ter", "hgvsWellDefined": "XP_011543893.1:p.Gln196_Arg1006delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112491" }, { "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545592.1:c.373C>T" ], "proteinEffect": { "hgvs": "XP_011543894.1:p.Gln125Ter", "hgvsWellDefined": "XP_011543894.1:p.Gln125_Trp948delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112492" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545593.1:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011543895.1:p.Gln196Ter", "hgvsWellDefined": "XP_011543895.1:p.Gln196_Thr931delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgValIleSerMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112493" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "C", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545594.1:c.244C>T" ], "proteinEffect": { "hgvs": "XP_011543896.1:p.Gln82Ter", "hgvsWellDefined": "XP_011543896.1:p.Gln82_Trp905delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112494" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545595.1:c.244C>T" ], "proteinEffect": { "hgvs": "XP_011543897.1:p.Gln82Ter", "hgvsWellDefined": "XP_011543897.1:p.Gln82_Trp905delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112495" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545596.1:c.586C>T" ], "proteinEffect": { "hgvs": "XP_011543898.1:p.Gln196Ter", "hgvsWellDefined": "XP_011543898.1:p.Gln196_Glu836delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112496" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545597.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_011543899.1:p.Gln49Ter", "hgvsWellDefined": "XP_011543899.1:p.Gln49_Trp835delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112497" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XR_247288.2:n.925C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117321" }, { "@id": "http://reg.genome.network/allele/PA2827332523", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330209.1:c.565C>T" ], "proteinEffect": { "hgvs": "NP_001317138.1:p.Gln189Ter", "hgvsWellDefined": "NP_001317138.1:p.Gln189_Trp972delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516609" }, { "@id": "http://reg.genome.network/allele/PA1139696591", "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330210.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001317139.1:p.Gln49Ter", "hgvsWellDefined": "NP_001317139.1:p.Gln49_Trp872delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516610" }, { "coordinates": [ { "allele": "T", "end": 1100, "referenceAllele": "C", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274606.4:c.421C>T" ], "proteinEffect": { "hgvs": "XP_005274663.1:p.Gln141Ter", "hgvsWellDefined": "XP_005274663.1:p.Gln141_Trp964delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537647" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545592.3:c.373C>T" ], "proteinEffect": { "hgvs": "XP_011543894.1:p.Gln125Ter", "hgvsWellDefined": "XP_011543894.1:p.Gln125_Trp948delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556159" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545594.3:c.244C>T" ], "proteinEffect": { "hgvs": "XP_011543896.1:p.Gln82Ter", "hgvsWellDefined": "XP_011543896.1:p.Gln82_Trp905delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556160" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545597.2:c.145C>T" ], "proteinEffect": { "hgvs": "XP_011543899.1:p.Gln49Ter", "hgvsWellDefined": "XP_011543899.1:p.Gln49_Trp835delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556161" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_017029909.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_016885398.1:p.Gln49Ter", "hgvsWellDefined": "XP_016885398.1:p.Gln49_Trp872delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579390" }, { "coordinates": [ { "allele": "T", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452468.1:c.-1375C>T" ], "proteinEffect": { "hgvs": "XP_024308236.1:n.-1375C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585961" }, { "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452469.1:c.-1375C>T" ], "proteinEffect": { "hgvs": "XP_024308237.1:n.-1375C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585962" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452470.1:c.-1375C>T" ], "proteinEffect": { "hgvs": "XP_024308238.1:n.-1375C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585963" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452471.1:c.-1375C>T" ], "proteinEffect": { "hgvs": "XP_024308239.1:n.-1375C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585964" }, { "@id": "http://reg.genome.network/allele/PA2829459814", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_003611.3:c.565C>T" ], "proteinEffect": { "hgvs": "NP_003602.1:p.Gln189Ter", "hgvsWellDefined": "NP_003602.1:p.Gln189_Trp1012delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666097", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340096.11:c.565C>T" }, "RefSeq": { "hgvs": "NM_003611.3:c.565C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344314.6:p.Gln189Ter" }, "RefSeq": { "hgvs": "NP_003602.1:p.Gln189Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827332523", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330209.2:c.565C>T" ], "proteinEffect": { "hgvs": "NP_001317138.1:p.Gln189Ter", "hgvsWellDefined": "NP_001317138.1:p.Gln189_Trp972delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718631" }, { "@id": "http://reg.genome.network/allele/PA1139696591", "coordinates": [ { "allele": "T", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330210.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001317139.1:p.Gln49Ter", "hgvsWellDefined": "NP_001317139.1:p.Gln49_Trp872delinsArgIleLysPheGluSerLeuGluIleLysLeuAsnGluTyrLysArgGluIleGluGluGlnLeuArgAlaGluMetCysGlnLysLeuLysPhePheLysAspThrGluIleAlaLysIleLysMetGluAlaLysLysLysTyrGluLysGluLeuThrMetPheGlnAsnAspPheGluLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718632" } ], "type": "nucleotide" }