{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA359930476", "communityStandardTitle": [ "NM_001104631.2(PDE4D):c.682C>T (p.Gln228Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.58489328G>A?assembly=hg19", "id": "chr5:g.58489328G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.59193502G>A?assembly=hg38", "id": "chr5:g.59193502G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514468", "rs": 397514468 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 59193502, "referenceAllele": "G", "start": 59193501 } ], "hgvs": [ "NC_000005.10:g.59193502G>A", "CM000667.2:g.59193502G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 58489328, "referenceAllele": "G", "start": 58489327 } ], "hgvs": [ "NC_000005.9:g.58489328G>A", "CM000667.1:g.58489328G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 58525085, "referenceAllele": "G", "start": 58525084 } ], "hgvs": [ "NC_000005.8:g.58525085G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 1299598, "referenceAllele": "C", "start": 1299597 } ], "hgvs": [ "NG_027957.1:g.1299598C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004014" }, { "coordinates": [ { "allele": "T", "end": 1335828, "referenceAllele": "C", "start": 1335827 } ], "hgvs": [ "NG_027957.2:g.1335828C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616278" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000507116.6:c.490C>T" ], "proteinEffect": { "hgvs": "ENSP00000424852.1:p.Gln164Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914188" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000340635.11:c.682C>T" ], "proteinEffect": { "hgvs": "ENSP00000345502.6:p.Gln228Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340635.11:c.682C>T" }, "RefSeq": { "hgvs": "NM_001104631.2:c.682C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345502.6:p.Gln228Ter" }, "RefSeq": { "hgvs": "NP_001098101.1:p.Gln228Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000636120.1:c.352C>T" ], "proteinEffect": { "hgvs": "ENSP00000490821.1:p.Gln118Ter", "hgvsWellDefined": "ENSP00000490821.1:p.Gln118_Thr699delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762887" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000638939.1:c.247C>T" ], "proteinEffect": { "hgvs": "ENSP00000492052.1:p.Gln83Ter", "hgvsWellDefined": "ENSP00000492052.1:p.Gln83_Gly125del" }, "referenceSequence": "http://reg.genome.network/refseq/RS764780" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000309641.10:c.490C>T" ], "proteinEffect": { "hgvs": "ENSP00000308485.6:p.Gln164Ter", "hgvsWellDefined": "ENSP00000308485.6:p.Gln164_Leu215delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGlyLeuTyrAsnGlyIleIleAlaPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256235" }, { "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "C", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000340635.10:c.682C>T" ], "proteinEffect": { "hgvs": "ENSP00000345502.6:p.Gln228Ter", "hgvsWellDefined": "ENSP00000345502.6:p.Gln228_Thr809delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261137" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000360047.9:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000353152.5:p.Gln92Ter", "hgvsWellDefined": "ENSP00000353152.5:p.Gln92_Thr673delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264999" }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000405053.7:n.345C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS280236" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000405755.6:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000384806.2:p.Gln106Ter", "hgvsWellDefined": "ENSP00000384806.2:p.Gln106_Thr687delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280431" }, { "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000502484.6:c.499C>T" ], "proteinEffect": { "hgvs": "ENSP00000423094.2:p.Gln167Ter", "hgvsWellDefined": "ENSP00000423094.2:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS335031" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000502575.1:c.490C>T" ], "proteinEffect": { "hgvs": "ENSP00000425917.1:p.Gln164Ter", "hgvsWellDefined": "ENSP00000425917.1:p.Gln164_Met219delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGlySerTrpMetGluLeuAsnProTyrThrLeuLeuAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS335099" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000503258.5:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000425605.1:p.Gln98Ter", "hgvsWellDefined": "ENSP00000425605.1:p.Gln98_Thr679delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS335617" }, { "coordinates": [ { "allele": "T", "end": 65, "endIntronDirection": "-", "endIntronOffset": 154530, "referenceAllele": "C", "start": 65, "startIntronDirection": "-", "startIntronOffset": 154531 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000505453.1:c.-98-154531C>T" ], "proteinEffect": { "hgvs": "ENSP00000421013.1:n.-98-154531C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS337241" }, { "coordinates": [ { "allele": "T", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000507116.5:c.490C>T" ], "proteinEffect": { "hgvs": "ENSP00000424852.1:p.Gln164Ter", "hgvsWellDefined": "ENSP00000424852.1:p.Gln164_Thr745delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338490" }, { "coordinates": [ { "allele": "T", "end": 194, "referenceAllele": "C", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000515324.1:n.194C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344587" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000546160.5:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000442734.2:p.Gln97Ter", "hgvsWellDefined": "ENSP00000442734.2:p.Gln97_Thr678delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS365473" }, { "coordinates": [ { "allele": "T", "end": 227, "referenceAllele": "C", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "ENST00000621323.4:n.227C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS405214" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001104631.1:c.682C>T" ], "proteinEffect": { "hgvs": "NP_001098101.1:p.Gln228Ter", "hgvsWellDefined": "NP_001098101.1:p.Gln228_Thr809delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011053" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001165899.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001159371.1:p.Gln167Ter", "hgvsWellDefined": "NP_001159371.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014724" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001197218.1:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001184147.1:p.Gln164Ter", "hgvsWellDefined": "NP_001184147.1:p.Gln164_Thr745delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016716" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001197219.1:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001184148.1:p.Gln106Ter", "hgvsWellDefined": "NP_001184148.1:p.Gln106_Thr687delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016717" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001197220.1:c.292C>T" ], "proteinEffect": { "hgvs": "NP_001184149.1:p.Gln98Ter", "hgvsWellDefined": "NP_001184149.1:p.Gln98_Thr679delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016718" }, { "@id": "http://reg.genome.network/allele/PA3071045085", "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_006203.4:c.274C>T" ], "proteinEffect": { "hgvs": "NP_006194.2:p.Gln92Ter", "hgvsWellDefined": "NP_006194.2:p.Gln92_Thr673delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031228" }, { "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "C", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_005248537.2:c.352C>T" ], "proteinEffect": { "hgvs": "XP_005248594.1:p.Gln118Ter", "hgvsWellDefined": "XP_005248594.1:p.Gln118_Thr699delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058477" }, { "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_005248538.3:c.274C>T" ], "proteinEffect": { "hgvs": "XP_005248595.1:p.Gln92Ter", "hgvsWellDefined": "XP_005248595.1:p.Gln92_Thr673delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058478" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543469.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011541771.1:p.Gln216Ter", "hgvsWellDefined": "XP_011541771.1:p.Gln216_Thr797delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110389" }, { "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "C", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543470.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011541772.1:p.Gln216Ter", "hgvsWellDefined": "XP_011541772.1:p.Gln216_Thr797delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110390" }, { "coordinates": [ { "allele": "T", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543471.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011541773.1:p.Gln167Ter", "hgvsWellDefined": "XP_011541773.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110391" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543472.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011541774.1:p.Gln167Ter", "hgvsWellDefined": "XP_011541774.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110392" }, { "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543473.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011541775.1:p.Gln167Ter", "hgvsWellDefined": "XP_011541775.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110393" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543474.1:c.469C>T" ], "proteinEffect": { "hgvs": "XP_011541776.1:p.Gln157Ter", "hgvsWellDefined": "XP_011541776.1:p.Gln157_Thr738delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110394" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543475.1:c.316C>T" ], "proteinEffect": { "hgvs": "XP_011541777.1:p.Gln106Ter", "hgvsWellDefined": "XP_011541777.1:p.Gln106_Thr687delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110395" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543476.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011541778.1:p.Gln88Ter", "hgvsWellDefined": "XP_011541778.1:p.Gln88_Thr669delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110396" }, { "coordinates": [ { "allele": "T", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543477.1:c.241C>T" ], "proteinEffect": { "hgvs": "XP_011541779.1:p.Gln81Ter", "hgvsWellDefined": "XP_011541779.1:p.Gln81_Thr662delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110397" }, { "coordinates": [ { "allele": "T", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543478.1:c.178C>T" ], "proteinEffect": { "hgvs": "XP_011541780.1:p.Gln60Ter", "hgvsWellDefined": "XP_011541780.1:p.Gln60_Thr641delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110398" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543479.1:c.178C>T" ], "proteinEffect": { "hgvs": "XP_011541781.1:p.Gln60Ter", "hgvsWellDefined": "XP_011541781.1:p.Gln60_Thr641delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110399" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001349241.1:c.469C>T" ], "proteinEffect": { "hgvs": "NP_001336170.1:p.Gln157Ter", "hgvsWellDefined": "NP_001336170.1:p.Gln157_Thr738delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518549" }, { "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001349242.1:c.352C>T" ], "proteinEffect": { "hgvs": "NP_001336171.1:p.Gln118Ter", "hgvsWellDefined": "NP_001336171.1:p.Gln118_Thr699delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518550" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001349243.1:c.-13C>T" ], "proteinEffect": { "hgvs": "NP_001336172.1:n.-13C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS518551" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364599.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001351528.1:p.Gln167Ter", "hgvsWellDefined": "NP_001351528.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523892" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364600.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001351529.1:p.Gln167Ter", "hgvsWellDefined": "NP_001351529.1:p.Gln167_Met222delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGlySerTrpMetGluLeuAsnProTyrThrLeuLeuAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523893" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364602.1:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001351531.1:p.Gln164Ter", "hgvsWellDefined": "NP_001351531.1:p.Gln164_Met219delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGlySerTrpMetGluLeuAsnProTyrThrLeuLeuAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523895" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364603.1:c.-269C>T" ], "proteinEffect": { "hgvs": "NP_001351532.1:n.-269C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523896" }, { "coordinates": [ { "allele": "T", "end": 1524, "referenceAllele": "C", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364604.1:c.-13C>T" ], "proteinEffect": { "hgvs": "NP_001351533.1:n.-13C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523897" }, { "coordinates": [ { "allele": "T", "end": 758, "referenceAllele": "C", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543470.2:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011541772.1:p.Gln216Ter", "hgvsWellDefined": "XP_011541772.1:p.Gln216_Thr797delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555225" }, { "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_011543471.2:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011541773.1:p.Gln167Ter", "hgvsWellDefined": "XP_011541773.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555226" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_017009565.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_016865054.1:p.Gln216Ter", "hgvsWellDefined": "XP_016865054.1:p.Gln216_Thr797delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563828" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_017009566.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_016865055.1:p.Gln167Ter", "hgvsWellDefined": "XP_016865055.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563829" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_017009567.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016865056.1:p.Gln162Ter", "hgvsWellDefined": "XP_016865056.1:p.Gln162_Thr743delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563830" }, { "coordinates": [ { "allele": "T", "end": 3014, "referenceAllele": "C", "start": 3013 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_024446110.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_024301878.1:p.Gln216Ter", "hgvsWellDefined": "XP_024301878.1:p.Gln216_Thr797delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579787" }, { "coordinates": [ { "allele": "T", "end": 2867, "referenceAllele": "C", "start": 2866 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "XM_024446112.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_024301880.1:p.Gln167Ter", "hgvsWellDefined": "XP_024301880.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579788" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001104631.2:c.682C>T" ], "proteinEffect": { "hgvs": "NP_001098101.1:p.Gln228Ter", "hgvsWellDefined": "NP_001098101.1:p.Gln228_Thr809delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663465", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340635.11:c.682C>T" }, "RefSeq": { "hgvs": "NM_001104631.2:c.682C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345502.6:p.Gln228Ter" }, "RefSeq": { "hgvs": "NP_001098101.1:p.Gln228Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001165899.2:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001159371.1:p.Gln167Ter", "hgvsWellDefined": "NP_001159371.1:p.Gln167_Thr748delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678428" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001197218.2:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001184147.1:p.Gln164Ter", "hgvsWellDefined": "NP_001184147.1:p.Gln164_Thr745delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679361" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001197219.2:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001184148.1:p.Gln106Ter", "hgvsWellDefined": "NP_001184148.1:p.Gln106_Thr687delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679362" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001197220.2:c.292C>T" ], "proteinEffect": { "hgvs": "NP_001184149.1:p.Gln98Ter", "hgvsWellDefined": "NP_001184149.1:p.Gln98_Thr679delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679363" }, { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001349241.2:c.469C>T" ], "proteinEffect": { "hgvs": "NP_001336170.1:p.Gln157Ter", "hgvsWellDefined": "NP_001336170.1:p.Gln157_Thr738delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687898" }, { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001349243.2:c.-13C>T" ], "proteinEffect": { "hgvs": "NP_001336172.1:n.-13C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687899" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364600.2:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001351529.1:p.Gln167Ter", "hgvsWellDefined": "NP_001351529.1:p.Gln167_Met222delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGlySerTrpMetGluLeuAsnProTyrThrLeuLeuAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690935" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001364602.2:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001351531.1:p.Gln164Ter", "hgvsWellDefined": "NP_001351531.1:p.Gln164_Met219delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGlySerTrpMetGluLeuAsnProTyrThrLeuLeuAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690936" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_001349242.2:c.352C>T" ], "proteinEffect": { "hgvs": "NP_001336171.1:p.Gln118Ter", "hgvsWellDefined": "NP_001336171.1:p.Gln118_Thr699delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719266" }, { "@id": "http://reg.genome.network/allele/PA3071045085", "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN008783", "geneNCBI_id": 5144, "geneSymbol": "PDE4D", "hgvs": [ "NM_006203.5:c.274C>T" ], "proteinEffect": { "hgvs": "NP_006194.2:p.Gln92Ter", "hgvsWellDefined": "NP_006194.2:p.Gln92_Thr673delinsValLeuAlaSerLeuArgThrValArgAsnAsnPheAlaAlaLeuThrAsnLeuGlnAspArgAlaProSerLysArgSerProMetCysAsnGlnProSerIleAsnLysAlaThrIleThrGluGluAlaTyrGlnLysLeuAlaSerGluThrLeuGluGluLeuAspTrpCysLeuAspGlnLeuGluThrLeuGlnThrArgHisSerValSerGluMetAlaSerAsnLysPheLysArgMetLeuAsnArgGluLeuThrHisLeuSerGluMetSerArgSerGlyAsnGlnValSerGluPheIleSerAsnThrPheLeuAspLysGlnHisGluValGluIleProSerProThrGlnLysGluLysGluLysLysLysArgProMetSerGlnIleSerGlyValLysLysLeuMetHisSerSerSerLeuThrAsnSerSerIleProArgPheGlyValLysThrGluGlnGluAspValLeuAlaLysGluLeuGluAspValAsnLysTrpGlyLeuHisValPheArgIleAlaGluLeuSerGlyAsnArgProLeuThrValIleMetHisThrIlePheGlnGluArgAspLeuLeuLysThrPheLysIleProValAspThrLeuIleThrTyrLeuMetThrLeuGluAspHisTyrHisAlaAspValAlaTyrHisAsnAsnIleHisAlaAlaAspValValGlnSerThrHisValLeuLeuSerThrProAlaLeuGluAlaValPheThrAspLeuGluIleLeuAlaAlaIlePheAlaSerAlaIleHisAspValAspHisProGlyValSerAsnGlnPheLeuIleAsnThrAsnSerGluLeuAlaLeuMetTyrAsnAspSerSerValLeuGluAsnHisHisLeuAlaValGlyPheLysLeuLeuGlnGluGluAsnCysAspIlePheGlnAsnLeuThrLysLysGlnArgGlnSerLeuArgLysMetValIleAspIleValLeuAlaThrAspMetSerLysHisMetAsnLeuLeuAlaAspLeuLysThrMetValGluThrLysLysValThrSerSerGlyValLeuLeuLeuAspAsnTyrSerAspArgIleGlnValLeuGlnAsnMetValHisCysAlaAspLeuSerAsnProThrLysProLeuGlnLeuTyrArgGlnTrpThrAspArgIleMetGluGluPhePheArgGlnGlyAspArgGluArgGluArgGlyMetGluIleSerProMetCysAspLysHisAsnAlaSerValGluLysSerGlnValGlyPheIleAspTyrIleValHisProLeuTrpGluThrTrpAlaAspLeuValHisProAspAlaGlnAspIleLeuAspThrLeuGluAspAsnArgGluTrpTyrGlnSerThrIleProGlnSerProSerProAlaProAspAspProGluGluGlyArgGlnGlyGlnThrGluLysPheGlnPheGluLeuThrLeuGluGluAspGlyGluSerAspThrGluLysAspSerGlySerGlnValGluGluAspThrSerCysSerAspSerLysThrLeuCysThrGlnAspSerGluSerThrGluIleProLeuAspGluGlnValGluGluGluAlaValGlyGluGluGluGluSerGlnProGluAlaCysValIleAspAspArgSerProAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727706" } ], "type": "nucleotide" }