{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA380208775", "communityStandardTitle": [ "NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2049009[alleleid]", "alleleId": 2049009, "preferredName": "NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1992361", "RCV": [ "RCV002795918" ], "variationId": 1992361 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.45991449G>A?assembly=hg19", "id": "chr11:g.45991449G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.45969898G>A?assembly=hg38", "id": "chr11:g.45969898G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2497897075", "rs": 2497897075 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 45969898, "referenceAllele": "G", "start": 45969897 } ], "hgvs": [ "NC_000011.10:g.45969898G>A", "CM000673.2:g.45969898G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 45991449, "referenceAllele": "G", "start": 45991448 } ], "hgvs": [ "NC_000011.9:g.45991449G>A", "CM000673.1:g.45991449G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 45948025, "referenceAllele": "G", "start": 45948024 } ], "hgvs": [ "NC_000011.8:g.45948025G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000525676.6:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000431964.2:p.Gln206Ter", "hgvsWellDefined": "ENSP00000431964.2:p.Gln206_Leu601delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerCysGluGluAlaGlyPheLeuGluThrSerIleGlyLysMetHisGlyAsnGluGluHisHisProGlyProAlaGluGlyAspAlaGlnLeuProGlyGluGlyLysThrAlaAspSerProHisProArgHisArgProLeuGlnThrCysArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825711" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000530587.6:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000435984.2:p.Gln207Ter", "hgvsWellDefined": "ENSP00000435984.2:p.Gln207_Cys569delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerSerProGluArgValGlyProSerValArgProSerLeuAlaLeuSerSerThrProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825790" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000685188.1:n.931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829930" }, { "coordinates": [ { "allele": "T", "end": 31, "referenceAllele": "C", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000688570.1:n.31C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831696" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000689695.1:n.931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832309" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000690620.1:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000508589.1:p.Gln207Ter", "hgvsWellDefined": "ENSP00000508589.1:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832793" }, { "coordinates": [ { "allele": "T", "end": 1649, "referenceAllele": "C", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000692878.1:n.1649C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS833935" }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "C", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000693049.1:c.*468C>T" ], "proteinEffect": { "hgvs": "ENSP00000510131.1:n.*468C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS834035" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000676320.1:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000502222.1:p.Gln207Ter", "hgvsWellDefined": "ENSP00000502222.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676320.1:c.619C>T" }, "RefSeq": { "hgvs": "NM_001352027.3:c.619C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502222.1:p.Gln207Ter" }, "RefSeq": { "hgvs": "NP_001338956.1:p.Gln207Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000323180.10:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000323152.6:p.Gln207Ter", "hgvsWellDefined": "ENSP00000323152.6:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258181" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000418153.6:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000398824.2:p.Gln206Ter", "hgvsWellDefined": "ENSP00000398824.2:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285268" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000527401.5:n.1472C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353112" }, { "@id": "http://reg.genome.network/allele/PA2825546629", "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001101802.1:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001095272.1:p.Gln206Ter", "hgvsWellDefined": "NP_001095272.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010966" }, { "@id": "http://reg.genome.network/allele/PA2580413395", "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_016621.3:c.619C>T" ], "proteinEffect": { "hgvs": "NP_057705.3:p.Gln207Ter", "hgvsWellDefined": "NP_057705.3:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034837" }, { "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_005252962.3:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005253019.1:p.Gln207Ter", "hgvsWellDefined": "XP_005253019.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060103" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_005252965.3:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005253022.1:p.Gln207Ter", "hgvsWellDefined": "XP_005253022.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060104" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_006718248.2:c.484C>T" ], "proteinEffect": { "hgvs": "XP_006718311.1:p.Gln162Ter", "hgvsWellDefined": "XP_006718311.1:p.Gln162_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072539" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520157.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518459.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518459.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087326" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520158.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518460.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518460.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087327" }, { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520159.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518461.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518461.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087328" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "C", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520160.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518462.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518462.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087329" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520161.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518463.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518463.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087330" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520162.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518464.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518464.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087331" }, { "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "C", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520163.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518465.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518465.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087332" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520164.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518466.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518466.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087333" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520165.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518467.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518467.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087334" }, { "coordinates": [ { "allele": "T", "end": 1072, "referenceAllele": "C", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520166.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518468.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518468.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087335" }, { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520167.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518469.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518469.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087336" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520168.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518470.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518470.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087337" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520169.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518471.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518471.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087338" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520170.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518472.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518472.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087339" }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520171.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_011518473.1:p.Gln213Ter", "hgvsWellDefined": "XP_011518473.1:p.Gln213_Lys687delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087340" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520172.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_011518474.1:p.Gln213Ter", "hgvsWellDefined": "XP_011518474.1:p.Gln213_Lys687delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087341" }, { "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520173.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011518475.1:p.Gln207Ter", "hgvsWellDefined": "XP_011518475.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087342" }, { "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520174.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011518476.1:p.Gln207Ter", "hgvsWellDefined": "XP_011518476.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087343" }, { "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520175.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_011518477.1:p.Gln206Ter", "hgvsWellDefined": "XP_011518477.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087344" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520176.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518478.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518478.1:p.Gln214_Leu656delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerCysGluGluAlaGlyPheLeuGluThrSerIleGlyLysMetHisGlyAsnGluGluHisHisProGlyProAlaGluGlyAspAlaGlnLeuProGlyGluGlyLysThrAlaAspSerProHisProArgHisArgProLeuGlnThrCysArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087345" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520177.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518479.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518479.1:p.Gln214_Lys641delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087346" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520178.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518480.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518480.1:p.Gln214_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087347" }, { "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520179.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011518481.1:p.Gln207Ter", "hgvsWellDefined": "XP_011518481.1:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087348" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520180.1:c.388C>T" ], "proteinEffect": { "hgvs": "XP_011518482.1:p.Gln130Ter", "hgvsWellDefined": "XP_011518482.1:p.Gln130_Lys604delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087349" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520181.1:c.367C>T" ], "proteinEffect": { "hgvs": "XP_011518483.1:p.Gln123Ter", "hgvsWellDefined": "XP_011518483.1:p.Gln123_Lys597delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087350" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520182.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518484.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518484.1:p.Gln214_Gly437delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087351" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XR_930874.1:n.793C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127001" }, { "@id": "http://reg.genome.network/allele/PA2827634248", "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352025.1:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338954.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338954.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520563" }, { "@id": "http://reg.genome.network/allele/PA2827634440", "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352026.1:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338955.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338955.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520564" }, { "@id": "http://reg.genome.network/allele/PA2827634626", "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "C", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352027.1:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338956.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338956.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520565" }, { "@id": "http://reg.genome.network/allele/PA2827634764", "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352028.1:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338957.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338957.1:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520566" }, { "@id": "http://reg.genome.network/allele/PA2827634935", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352029.1:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338958.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338958.1:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520567" }, { "@id": "http://reg.genome.network/allele/PA2827635105", "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352030.1:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338959.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338959.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520568" }, { "@id": "http://reg.genome.network/allele/PA2827635283", "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352031.1:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338960.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338960.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520569" }, { "@id": "http://reg.genome.network/allele/PA2827635460", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352032.1:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338961.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338961.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520570" }, { "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_147890.1:n.1243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530874" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_005252965.4:c.619C>T" ], "proteinEffect": { "hgvs": "XP_005253022.1:p.Gln207Ter", "hgvsWellDefined": "XP_005253022.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533873" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520157.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518459.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518459.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545602" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520158.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518460.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518460.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545603" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520160.3:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518462.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518462.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545604" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "C", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520161.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518463.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518463.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545605" }, { "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520162.3:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518464.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518464.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545606" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520164.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518466.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518466.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545607" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520165.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518467.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518467.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545608" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520166.3:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518468.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518468.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545609" }, { "coordinates": [ { "allele": "T", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520167.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518469.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518469.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545610" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520168.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011518470.1:p.Gln214Ter", "hgvsWellDefined": "XP_011518470.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545611" }, { "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520174.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011518476.1:p.Gln207Ter", "hgvsWellDefined": "XP_011518476.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545612" }, { "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520175.2:c.616C>T" ], "proteinEffect": { "hgvs": "XP_011518477.1:p.Gln206Ter", "hgvsWellDefined": "XP_011518477.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545613" }, { "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520179.3:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011518481.1:p.Gln207Ter", "hgvsWellDefined": "XP_011518481.1:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545614" }, { "coordinates": [ { "allele": "T", "end": 1226, "referenceAllele": "C", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017885.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873374.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873374.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569968" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017886.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873375.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873375.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569969" }, { "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017887.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873376.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873376.1:p.Gln214_Lys688delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569970" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017888.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_016873377.1:p.Gln213Ter", "hgvsWellDefined": "XP_016873377.1:p.Gln213_Lys687delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569971" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017889.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_016873378.1:p.Gln213Ter", "hgvsWellDefined": "XP_016873378.1:p.Gln213_Lys687delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569972" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017890.1:c.634C>T" ], "proteinEffect": { "hgvs": "XP_016873379.1:p.Gln212Ter", "hgvsWellDefined": "XP_016873379.1:p.Gln212_Lys686delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569973" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017891.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_016873380.1:p.Gln206Ter", "hgvsWellDefined": "XP_016873380.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569974" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017892.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_016873381.1:p.Gln206Ter", "hgvsWellDefined": "XP_016873381.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569975" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017893.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873382.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873382.1:p.Gln214_Leu656delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerCysGluGluAlaGlyPheLeuGluThrSerIleGlyLysMetHisGlyAsnGluGluHisHisProGlyProAlaGluGlyAspAlaGlnLeuProGlyGluGlyLysThrAlaAspSerProHisProArgHisArgProLeuGlnThrCysArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569976" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017894.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873383.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873383.1:p.Gln214_Lys641delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569977" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017895.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_016873384.1:p.Gln213Ter", "hgvsWellDefined": "XP_016873384.1:p.Gln213_Lys640delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569978" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017896.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_016873385.1:p.Gln213Ter", "hgvsWellDefined": "XP_016873385.1:p.Gln213_Lys640delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569979" }, { "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017897.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016873386.1:p.Gln162Ter", "hgvsWellDefined": "XP_016873386.1:p.Gln162_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569980" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017898.2:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016873387.1:p.Gln162Ter", "hgvsWellDefined": "XP_016873387.1:p.Gln162_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569981" }, { "coordinates": [ { "allele": "T", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017899.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016873388.1:p.Gln162Ter", "hgvsWellDefined": "XP_016873388.1:p.Gln162_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569982" }, { "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017900.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016873389.1:p.Gln162Ter", "hgvsWellDefined": "XP_016873389.1:p.Gln162_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569983" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017901.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873390.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873390.1:p.Gln214_Lys636delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569984" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017902.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_016873391.1:p.Gln206Ter", "hgvsWellDefined": "XP_016873391.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569985" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017905.1:c.388C>T" ], "proteinEffect": { "hgvs": "XP_016873394.1:p.Gln130Ter", "hgvsWellDefined": "XP_016873394.1:p.Gln130_Lys604delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569986" }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017906.2:c.616C>T" ], "proteinEffect": { "hgvs": "XP_016873395.1:p.Gln206Ter", "hgvsWellDefined": "XP_016873395.1:p.Gln206_Leu601delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerCysGluGluAlaGlyPheLeuGluThrSerIleGlyLysMetHisGlyAsnGluGluHisHisProGlyProAlaGluGlyAspAlaGlnLeuProGlyGluGlyLysThrAlaAspSerProHisProArgHisArgProLeuGlnThrCysArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569987" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017907.1:c.367C>T" ], "proteinEffect": { "hgvs": "XP_016873396.1:p.Gln123Ter", "hgvsWellDefined": "XP_016873396.1:p.Gln123_Lys597delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569988" }, { "coordinates": [ { "allele": "T", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017908.1:c.235C>T" ], "proteinEffect": { "hgvs": "XP_016873397.1:p.Gln79Ter", "hgvsWellDefined": "XP_016873397.1:p.Gln79_Lys553delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569989" }, { "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "C", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448574.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_024304342.1:p.Gln207Ter", "hgvsWellDefined": "XP_024304342.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582145" }, { "coordinates": [ { "allele": "T", "end": 995, "referenceAllele": "C", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448575.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_024304343.1:p.Gln207Ter", "hgvsWellDefined": "XP_024304343.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582146" }, { "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448576.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_024304344.1:p.Gln207Ter", "hgvsWellDefined": "XP_024304344.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582147" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448577.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_024304345.1:p.Gln206Ter", "hgvsWellDefined": "XP_024304345.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582148" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448578.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_024304346.1:p.Gln206Ter", "hgvsWellDefined": "XP_024304346.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582149" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XR_001747900.1:n.1145C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595987" }, { "coordinates": [ { "allele": "T", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XR_001747902.2:n.919C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595988" }, { "@id": "http://reg.genome.network/allele/PA2825546629", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001101802.2:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001095272.1:p.Gln206Ter", "hgvsWellDefined": "NP_001095272.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676586" }, { "@id": "http://reg.genome.network/allele/PA2827634248", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352025.2:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338954.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338954.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689027" }, { "@id": "http://reg.genome.network/allele/PA2827634440", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352026.2:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338955.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338955.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689028" }, { "@id": "http://reg.genome.network/allele/PA2827634626", "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352027.2:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338956.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338956.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689029" }, { "@id": "http://reg.genome.network/allele/PA2827635105", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352030.2:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338959.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338959.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689030" }, { "@id": "http://reg.genome.network/allele/PA2827635283", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352031.2:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338960.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338960.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689031" }, { "@id": "http://reg.genome.network/allele/PA2827635460", "coordinates": [ { "allele": "T", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352032.2:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338961.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338961.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689032" }, { "@id": "http://reg.genome.network/allele/PA2580413395", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_016621.4:c.619C>T" ], "proteinEffect": { "hgvs": "NP_057705.3:p.Gln207Ter", "hgvsWellDefined": "NP_057705.3:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697766" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_147890.2:n.794C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704587" }, { "@id": "http://reg.genome.network/allele/PA2825546629", "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001101802.3:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001095272.1:p.Gln206Ter", "hgvsWellDefined": "NP_001095272.1:p.Gln206_Lys680delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712034" }, { "@id": "http://reg.genome.network/allele/PA2827634248", "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352025.3:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338954.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338954.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719954" }, { "@id": "http://reg.genome.network/allele/PA2827634440", "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352026.3:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338955.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338955.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719955" }, { "@id": "http://reg.genome.network/allele/PA2827634626", "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352027.3:c.619C>T" ], "proteinEffect": { "hgvs": "NP_001338956.1:p.Gln207Ter", "hgvsWellDefined": "NP_001338956.1:p.Gln207_Lys681delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgGlyArgProProLysTyrAsnAlaValLeuGlyPheGlyAlaLeuThrProThrSerProGlnSerSerHisProAspSerProGluAsnGluLysThrGluThrThrPheThrPheProAlaProValGlnProValSerLeuProSerProThrSerThrAspGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719956", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676320.1:c.619C>T" }, "RefSeq": { "hgvs": "NM_001352027.3:c.619C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502222.1:p.Gln207Ter" }, "RefSeq": { "hgvs": "NP_001338956.1:p.Gln207Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827635105", "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352030.3:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338959.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338959.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719957" }, { "@id": "http://reg.genome.network/allele/PA2827635283", "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352031.3:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338960.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338960.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719958" }, { "@id": "http://reg.genome.network/allele/PA2827635460", "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352032.3:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001338961.1:p.Gln206Ter", "hgvsWellDefined": "NP_001338961.1:p.Gln206_Lys633delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719959" }, { "@id": "http://reg.genome.network/allele/PA2580413395", "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_016621.5:c.619C>T" ], "proteinEffect": { "hgvs": "NP_057705.3:p.Gln207Ter", "hgvsWellDefined": "NP_057705.3:p.Gln207_Lys634delinsAlaThrProProGlnProIleLysValProGlnPheIleProProProArgLeuThrProArgProAsnPheLeuProGlnValArgProLysProValAlaGlnAsnAsnIleProIleAlaProAlaProProProMetLeuAlaAlaProGlnLeuIleGlnArgProValMetLeuThrLysPheThrProThrThrLeuProThrSerGlnAsnSerIleHisProValArgValValAsnGlyGlnThrAlaThrIleAlaLysThrPheProMetAlaGlnLeuThrSerIleValIleAlaThrProGlyThrArgLeuAlaGlyProGlnThrValGlnLeuSerLysProSerLeuGluLysGlnThrValLysSerHisThrGluThrAspGluLysGlnThrGluSerArgThrIleThrProProAlaAlaProLysProLysArgGluGluAsnProGlnLysLeuAlaPheMetValSerLeuGlyLeuValThrHisAspHisLeuGluGluIleGlnSerLysArgGlnGluArgLysArgArgThrThrAlaAsnProValTyrSerGlyAlaValPheGluProGluArgLysLysSerAlaValThrTyrLeuAsnSerThrMetHisProGlyThrArgLysArgAlaAsnGluGluHisTrpProLysGlyAspIleHisGluAspPheCysSerValCysArgLysSerGlyGlnLeuLeuMetCysAspThrCysSerArgValTyrHisLeuAspCysLeuAspProProLeuLysThrIleProLysGlyMetTrpIleCysProArgCysGlnAspGlnMetLeuLysLysGluGluAlaIleProTrpProGlyThrLeuAlaIleValHisSerTyrIleAlaTyrLysAlaAlaLysGluGluGluLysGlnLysLeuLeuLysTrpSerSerAspLeuLysGlnGluArgGluGlnLeuGluGlnLysValLysGlnLeuSerAsnSerIleSerLysCysMetGluMetLysAsnThrIleLeuAlaArgGlnLysGluMetHisSerSerLeuGluLysValLysGlnLeuIleArgLeuIleHisGlyIleAspLeuSerLysProValAspSerGluAlaThrValGlyAlaIleSerAsnGlyProAspCysThrProProAlaAsnAlaAlaThrSerThrProAlaProSerProSerSerGlnSerCysThrAlaAsnCysAsnGlnGlyGluGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728201" }, { "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_147890.3:n.1263C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731399" }, { "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_165446.1:n.1263C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731711" } ], "type": "nucleotide" }