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"ENSP00000369923.3:p.Glu250_Trp972delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272973" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000380567.5:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000369941.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000369941.1:p.Glu110_Trp872delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272981" }, { "coordinates": [ { "allele": "T", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000398395.7:c.337G>T" ], "proteinEffect": { "hgvs": "ENSP00000381432.4:p.Glu113Ter", "hgvsWellDefined": "ENSP00000381432.4:p.Glu113_Pro338delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278249" }, { "coordinates": [ { "allele": "T", "end": 1059, "referenceAllele": "G", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "ENST00000490265.5:n.1059G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328136" }, { "@id": "http://reg.genome.network/allele/PA658810594", "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_003611.2:c.748G>T" ], "proteinEffect": { "hgvs": "NP_003602.1:p.Glu250Ter", "hgvsWellDefined": "NP_003602.1:p.Glu250_Trp1012delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028841" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274599.2:c.769G>T" ], "proteinEffect": { "hgvs": "XP_005274656.1:p.Glu257Ter", "hgvsWellDefined": "XP_005274656.1:p.Glu257_Trp1019delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068013" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274602.2:c.769G>T" ], "proteinEffect": { "hgvs": "XP_005274659.1:p.Glu257Ter", "hgvsWellDefined": "XP_005274659.1:p.Glu257_Trp982delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068014" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274603.2:c.769G>T" ], "proteinEffect": { "hgvs": "XP_005274660.1:p.Glu257Ter", "hgvsWellDefined": "XP_005274660.1:p.Glu257_Trp979delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068015" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274604.2:c.748G>T" ], "proteinEffect": { "hgvs": "XP_005274661.1:p.Glu250Ter", "hgvsWellDefined": "XP_005274661.1:p.Glu250_Trp972delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068016" }, { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274606.2:c.604G>T" ], "proteinEffect": { "hgvs": "XP_005274663.1:p.Glu202Ter", "hgvsWellDefined": "XP_005274663.1:p.Glu202_Trp964delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068017" }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274607.3:c.328G>T" ], "proteinEffect": { "hgvs": "XP_005274664.1:p.Glu110Ter", "hgvsWellDefined": "XP_005274664.1:p.Glu110_Trp872delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068018" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545591.1:c.769G>T" ], "proteinEffect": { "hgvs": "XP_011543893.1:p.Glu257Ter", "hgvsWellDefined": "XP_011543893.1:p.Glu257_Arg1006delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112491" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545592.1:c.556G>T" ], "proteinEffect": { "hgvs": "XP_011543894.1:p.Glu186Ter", "hgvsWellDefined": "XP_011543894.1:p.Glu186_Trp948delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112492" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545593.1:c.769G>T" ], "proteinEffect": { "hgvs": "XP_011543895.1:p.Glu257Ter", "hgvsWellDefined": "XP_011543895.1:p.Glu257_Thr931delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgValIleSerMetThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112493" }, { "coordinates": [ { "allele": "T", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545594.1:c.427G>T" ], "proteinEffect": { "hgvs": "XP_011543896.1:p.Glu143Ter", "hgvsWellDefined": "XP_011543896.1:p.Glu143_Trp905delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112494" }, { "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545595.1:c.427G>T" ], "proteinEffect": { "hgvs": "XP_011543897.1:p.Glu143Ter", "hgvsWellDefined": "XP_011543897.1:p.Glu143_Trp905delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112495" }, { "coordinates": [ { "allele": "T", "end": 1108, "referenceAllele": "G", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545596.1:c.769G>T" ], "proteinEffect": { "hgvs": "XP_011543898.1:p.Glu257Ter", "hgvsWellDefined": "XP_011543898.1:p.Glu257_Glu836delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112496" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545597.1:c.328G>T" ], "proteinEffect": { "hgvs": "XP_011543899.1:p.Glu110Ter", "hgvsWellDefined": "XP_011543899.1:p.Glu110_Trp835delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112497" }, { "coordinates": [ { "allele": "T", "end": 1108, "referenceAllele": "G", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XR_247288.2:n.1108G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117321" }, { "@id": "http://reg.genome.network/allele/PA2827332568", "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330209.1:c.748G>T" ], "proteinEffect": { "hgvs": "NP_001317138.1:p.Glu250Ter", "hgvsWellDefined": "NP_001317138.1:p.Glu250_Trp972delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516609" }, { "@id": "http://reg.genome.network/allele/PA2827333369", "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330210.1:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001317139.1:p.Glu110Ter", "hgvsWellDefined": "NP_001317139.1:p.Glu110_Trp872delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516610" }, { "coordinates": [ { "allele": "T", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_005274606.4:c.604G>T" ], "proteinEffect": { "hgvs": "XP_005274663.1:p.Glu202Ter", "hgvsWellDefined": "XP_005274663.1:p.Glu202_Trp964delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537647" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545592.3:c.556G>T" ], "proteinEffect": { "hgvs": "XP_011543894.1:p.Glu186Ter", "hgvsWellDefined": "XP_011543894.1:p.Glu186_Trp948delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556159" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545594.3:c.427G>T" ], "proteinEffect": { "hgvs": "XP_011543896.1:p.Glu143Ter", "hgvsWellDefined": "XP_011543896.1:p.Glu143_Trp905delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556160" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_011545597.2:c.328G>T" ], "proteinEffect": { "hgvs": "XP_011543899.1:p.Glu110Ter", "hgvsWellDefined": "XP_011543899.1:p.Glu110_Trp835delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556161" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_017029909.1:c.328G>T" ], "proteinEffect": { "hgvs": "XP_016885398.1:p.Glu110Ter", "hgvsWellDefined": "XP_016885398.1:p.Glu110_Trp872delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579390" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452468.1:c.-1192G>T" ], "proteinEffect": { "hgvs": "XP_024308236.1:n.-1192G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585961" }, { "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452469.1:c.-1192G>T" ], "proteinEffect": { "hgvs": "XP_024308237.1:n.-1192G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585962" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452470.1:c.-1192G>T" ], "proteinEffect": { "hgvs": "XP_024308238.1:n.-1192G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585963" }, { "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "XM_024452471.1:c.-1192G>T" ], "proteinEffect": { "hgvs": "XP_024308239.1:n.-1192G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585964" }, { "@id": "http://reg.genome.network/allele/PA658810594", "coordinates": [ { "allele": "T", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_003611.3:c.748G>T" ], "proteinEffect": { "hgvs": "NP_003602.1:p.Glu250Ter", "hgvsWellDefined": "NP_003602.1:p.Glu250_Trp1012delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666097", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340096.11:c.748G>T" }, "RefSeq": { "hgvs": "NM_003611.3:c.748G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344314.6:p.Glu250Ter" }, "RefSeq": { "hgvs": "NP_003602.1:p.Glu250Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827332568", "coordinates": [ { "allele": "T", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330209.2:c.748G>T" ], "proteinEffect": { "hgvs": "NP_001317138.1:p.Glu250Ter", "hgvsWellDefined": "NP_001317138.1:p.Glu250_Trp972delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718631" }, { "@id": "http://reg.genome.network/allele/PA2827333369", "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "G", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN002567", "geneNCBI_id": 8481, "geneSymbol": "OFD1", "hgvs": [ "NM_001330210.2:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001317139.1:p.Glu110Ter", "hgvsWellDefined": "NP_001317139.1:p.Glu110_Trp872delinsLysAlaCysGlnAlaLysSerGluAlaLeuValLeuArgGluLysSerThrLeuGluArgIleHisLysHisGlnGluIleGluThrLysGluIleTyrAlaGlnArgGlnLeuLeuLeuLysAspMetAspLeuLeuArgGlyArgGluAlaGluLeuLysGlnArgValGluAlaPheGluLeuAsnGlnLysLeuGlnGluGluLysHisLysSerIleThrGluAlaLeuArgArgGlnGluGlnAsnIleLysSerPheGluGluThrTyrAspArgLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718632" } ], "type": "nucleotide" }