{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116047", "communityStandardTitle": [ "NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18225[alleleid]", "alleleId": 18225, "preferredName": "NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3186", "RCV": [ "RCV000003336", "RCV001851607", "RCV002482820", "RCV002512699" ], "variationId": 3186 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/18-46904962-A-T", "id": "18-46904962-A-T", "variant": "18:46904962 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.46904962A>T?assembly=hg19", "id": "chr18:g.46904962A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.49378592A>T?assembly=hg38", "id": "chr18:g.49378592A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/120074162", "rs": 120074162 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-46904962-A-T?dataset=gnomad_r2_1", "id": "18-46904962-A-T", "variant": "18:46904962 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-49378592-A-T?dataset=gnomad_r4", "id": "18-49378592-A-T", "variant": "18:49378592 A / T" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 49378592, "referenceAllele": "A", "start": 49378591 } ], "hgvs": [ "NC_000018.10:g.49378592A>T", "CM000680.2:g.49378592A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 46904962, "referenceAllele": "A", "start": 46904961 } ], "hgvs": [ "NC_000018.9:g.46904962A>T", "CM000680.1:g.46904962A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 45158960, "referenceAllele": "A", "start": 45158959 } ], "hgvs": [ "NC_000018.8:g.45158960A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 87118, "referenceAllele": "T", "start": 87117 } ], "hgvs": [ "NG_009239.1:g.87118T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001509" }, { "coordinates": [ { "allele": "A", "end": 87142, "referenceAllele": "T", "start": 87141 } ], "hgvs": [ "NG_009239.2:g.87142T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616125" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "ENST00000675505.1:c.396T>A" ], "proteinEffect": { "hgvs": "ENSP00000501694.1:p.Tyr132Ter", "hgvsWellDefined": "ENSP00000501694.1:p.Tyr132_Asp724delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775316", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675505.1:c.396T>A" }, "RefSeq": { "hgvs": "NM_001353214.3:c.396T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501694.1:p.Tyr132Ter" }, "RefSeq": { "hgvs": "NP_001340143.1:p.Tyr132Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 854, "referenceAllele": "T", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "ENST00000269445.10:c.396T>A" ], "proteinEffect": { "hgvs": "ENSP00000269445.6:p.Tyr132Ter", "hgvsWellDefined": "ENSP00000269445.6:p.Tyr132_Asp669delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252179" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "ENST00000418472.6:c.118T>A" ], "proteinEffect": { "hgvs": "ENSP00000415292.2:p.Ter40Arg", "hgvsWellDefined": "ENSP00000415292.2:p.Leu39_Ter40insArgArgLysIleSerTrpGlnLeuGlnPhe" }, "referenceSequence": "http://reg.genome.network/refseq/RS285418" }, { "coordinates": [ { "allele": "A", "end": 514, "endIntronDirection": "+", "endIntronOffset": 13001, "referenceAllele": "T", "start": 514, "startIntronDirection": "+", "startIntronOffset": 13000 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "ENST00000442713.6:c.193+13001T>A" ], "proteinEffect": { "hgvs": "ENSP00000395942.2:n.193+13001T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS297006" }, { "coordinates": [ { "allele": "A", "end": 58, "referenceAllele": "T", "start": 57 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "ENST00000578396.1:c.-147T>A" ], "proteinEffect": { "hgvs": "ENSP00000463892.1:n.-147T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS385339" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "ENST00000578596.5:n.520T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS385442" }, { "@id": "http://reg.genome.network/allele/PA116048", "coordinates": [ { "allele": "A", "end": 761, "referenceAllele": "T", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_017653.3:c.396T>A" ], "proteinEffect": { "hgvs": "NP_060123.3:p.Tyr132Ter", "hgvsWellDefined": "NP_060123.3:p.Tyr132_Asp669delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035077" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_006722488.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_006722551.1:p.Tyr132Ter", "hgvsWellDefined": "XP_006722551.1:p.Tyr132_Asn656delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysProLeuAlaAspArgGlnValAspArgValLeuAlaCysGlnAlaPheValTyrAlaAlaSerGlyPheSerGlnPheHisGlyLeuSerValArgAsnPheGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074584" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_006722490.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_006722553.1:p.Tyr132Ter", "hgvsWellDefined": "XP_006722553.1:p.Tyr132_Lys604delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuAspThrGlnAsnHisAlaLysAsnLeuAsnTyrIleHisLeuLysHisIleLeuLeuTrpLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074585" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_006722491.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_006722554.1:p.Tyr132Ter", "hgvsWellDefined": "XP_006722554.1:p.Tyr132_Ile557delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerArgLeuLeuThrSerAlaValHisLeuLeuHisAlaAlaCysCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074586" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_006722492.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_006722555.1:p.Tyr132Ter", "hgvsWellDefined": "XP_006722555.1:p.Tyr132_Trp505delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleArgLeuValGluValTrpArgPheArgGlnSerArgValLeuThrLeuHisSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074587" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526036.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524338.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524338.1:p.Tyr132_Cys745delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093143" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "T", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526037.1:c.393T>A" ], "proteinEffect": { "hgvs": "XP_011524339.1:p.Tyr131Ter", "hgvsWellDefined": "XP_011524339.1:p.Tyr131_Cys744delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093144" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526038.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524340.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524340.1:p.Tyr132_Cys744delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093145" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526039.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524341.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524341.1:p.Tyr132_Ser697delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysProLeuAlaAspArgGlnValAspArgValLeuAlaCysGlnAlaPheValTyrAlaAlaSerGlyPheSerGlnPheHisGlyLeuSerValSerSerLeuPheTyrProHisPheAspHisAsnIleAlaArgThrLeuGlyLysGlnLysCysValArgHisHisLeuCysProGlnLysAsnValSerSerPheArgArgGluArgHisProLeuAlaLeuGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093146" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "T", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526040.1:c.228T>A" ], "proteinEffect": { "hgvs": "XP_011524342.1:p.Tyr76Ter", "hgvsWellDefined": "XP_011524342.1:p.Tyr76_Cys689delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093147" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526041.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524343.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524343.1:p.Tyr132_Cys684delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093148" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526042.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524344.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524344.1:p.Tyr132_Val680delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerAlaArgTyrPheThrProThrLeuThrThrThrLeuLeuGlyArgTrpGlyAsnArgSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093149" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "T", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526043.1:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524345.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524345.1:p.Tyr132_Lys604delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuAspThrGlnAsnHisAlaLysAsnLeuAsnTyrIleHisLeuLysHisIleLeuLeuTrpLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093150" }, { "@id": "http://reg.genome.network/allele/PA2827717852", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353210.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340139.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340139.1:p.Tyr132_Asp668delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521555" }, { "@id": "http://reg.genome.network/allele/PA2827718056", "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353211.1:c.393T>A" ], "proteinEffect": { "hgvs": "NP_001340140.1:p.Tyr131Ter", "hgvsWellDefined": "NP_001340140.1:p.Tyr131_Asp668delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521556" }, { "@id": "http://reg.genome.network/allele/PA2827718261", "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353212.1:c.393T>A" ], "proteinEffect": { "hgvs": "NP_001340141.1:p.Tyr131Ter", "hgvsWellDefined": "NP_001340141.1:p.Tyr131_Asp723delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521557" }, { "@id": "http://reg.genome.network/allele/PA2827718467", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353213.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340142.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340142.1:p.Tyr132_Asp723delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521558" }, { "@id": "http://reg.genome.network/allele/PA2827718672", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353214.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340143.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340143.1:p.Tyr132_Asp724delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521559" }, { "@id": "http://reg.genome.network/allele/PA2827718871", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353215.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340144.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340144.1:p.Tyr132_Asp663delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521560" }, { "@id": "http://reg.genome.network/allele/PA2827719059", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353216.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340145.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340145.1:p.Tyr132_Asp608delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521561" }, { "@id": "http://reg.genome.network/allele/PA116048", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_017653.4:c.396T>A" ], "proteinEffect": { "hgvs": "NP_060123.3:p.Tyr132Ter", "hgvsWellDefined": "NP_060123.3:p.Tyr132_Asp669delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525818" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_006722488.3:c.396T>A" ], "proteinEffect": { "hgvs": "XP_006722551.1:p.Tyr132Ter", "hgvsWellDefined": "XP_006722551.1:p.Tyr132_Asn656delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysProLeuAlaAspArgGlnValAspArgValLeuAlaCysGlnAlaPheValTyrAlaAlaSerGlyPheSerGlnPheHisGlyLeuSerValArgAsnPheGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540551" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_006722492.4:c.396T>A" ], "proteinEffect": { "hgvs": "XP_006722555.1:p.Tyr132Ter", "hgvsWellDefined": "XP_006722555.1:p.Tyr132_Trp505delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleArgLeuValGluValTrpArgPheArgGlnSerArgValLeuThrLeuHisSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540552" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526036.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524338.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524338.1:p.Tyr132_Cys745delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548110" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526038.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524340.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524340.1:p.Tyr132_Cys744delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548111" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526039.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524341.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524341.1:p.Tyr132_Ser697delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysProLeuAlaAspArgGlnValAspArgValLeuAlaCysGlnAlaPheValTyrAlaAlaSerGlyPheSerGlnPheHisGlyLeuSerValSerSerLeuPheTyrProHisPheAspHisAsnIleAlaArgThrLeuGlyLysGlnLysCysValArgHisHisLeuCysProGlnLysAsnValSerSerPheArgArgGluArgHisProLeuAlaLeuGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548112" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526041.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524343.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524343.1:p.Tyr132_Cys684delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548113" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_011526042.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_011524344.1:p.Tyr132Ter", "hgvsWellDefined": "XP_011524344.1:p.Tyr132_Val680delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerAlaArgTyrPheThrProThrLeuThrThrThrLeuLeuGlyArgTrpGlyAsnArgSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548114" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "T", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_017025795.1:c.393T>A" ], "proteinEffect": { "hgvs": "XP_016881284.1:p.Tyr131Ter", "hgvsWellDefined": "XP_016881284.1:p.Tyr131_Cys743delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576080" }, { "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "T", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_017025796.2:c.216T>A" ], "proteinEffect": { "hgvs": "XP_016881285.1:p.Tyr72Ter", "hgvsWellDefined": "XP_016881285.1:p.Tyr72_Cys685delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysIleLeuCysSerAsnAlaValSerArgTrpProIleValArgTrpThrGluSerLeuHisAlaArgProLeuCysMetGlnLeuLeuGlySerHisSerPheMetAlaCysLeuSerGluIleSerArgIleGluIleGlnIleCysGlyArgGlyAlaAlaArgGlyValPheTyrProLeuCysLeuValSerCysLeuGlnLeuSerSerArgProValLeuGluSerThrGlyHisProAlaValHisHisGlyPheArgLeuArgAlaGlyCysSerProThrArgThrProProAlaLysGlnProPheLysPhePheTyrPheTrpValThrGluValAspArgGlnValThrTrpCysIlePheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576081" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_017025800.2:c.396T>A" ], "proteinEffect": { "hgvs": "XP_016881289.1:p.Tyr132Ter", "hgvsWellDefined": "XP_016881289.1:p.Tyr132_Asp607delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576082" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "T", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XM_017025801.1:c.393T>A" ], "proteinEffect": { "hgvs": "XP_016881290.1:p.Tyr131Ter", "hgvsWellDefined": "XP_016881290.1:p.Tyr131_Asp606delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576083" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "T", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "XR_002958177.1:n.753T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604303" }, { "@id": "http://reg.genome.network/allele/PA2827717852", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353210.3:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340139.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340139.1:p.Tyr132_Asp668delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689642" }, { "@id": "http://reg.genome.network/allele/PA2827718056", "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "T", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353211.3:c.393T>A" ], "proteinEffect": { "hgvs": "NP_001340140.1:p.Tyr131Ter", "hgvsWellDefined": "NP_001340140.1:p.Tyr131_Asp668delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689643" }, { "@id": "http://reg.genome.network/allele/PA2827718261", "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "T", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353212.3:c.393T>A" ], "proteinEffect": { "hgvs": "NP_001340141.1:p.Tyr131Ter", "hgvsWellDefined": "NP_001340141.1:p.Tyr131_Asp723delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689644" }, { "@id": "http://reg.genome.network/allele/PA2827718467", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353213.3:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340142.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340142.1:p.Tyr132_Asp723delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689645" }, { "@id": "http://reg.genome.network/allele/PA2827718672", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353214.3:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340143.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340143.1:p.Tyr132_Asp724delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689646", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675505.1:c.396T>A" }, "RefSeq": { "hgvs": "NM_001353214.3:c.396T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501694.1:p.Tyr132Ter" }, "RefSeq": { "hgvs": "NP_001340143.1:p.Tyr132Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827718871", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353215.3:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340144.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340144.1:p.Tyr132_Asp663delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689647" }, { "@id": "http://reg.genome.network/allele/PA2827719059", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001353216.3:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001340145.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001340145.1:p.Tyr132_Asp608delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689648" }, { "@id": "http://reg.genome.network/allele/PA2828513800", "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374428.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361357.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361357.1:p.Tyr132_Asp724delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693270" }, { "@id": "http://reg.genome.network/allele/PA2828513999", "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "T", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374429.1:c.393T>A" ], "proteinEffect": { "hgvs": "NP_001361358.1:p.Tyr131Ter", "hgvsWellDefined": "NP_001361358.1:p.Tyr131_Asp722delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693271" }, { "@id": "http://reg.genome.network/allele/PA2828514204", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374430.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361359.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361359.1:p.Tyr132_Asn711delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysProLeuAlaAspArgGlnValAspArgValLeuAlaCysGlnAlaPheValTyrAlaAlaSerGlyPheSerGlnPheHisGlyLeuSerValArgAsnPheGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693272" }, { "@id": "http://reg.genome.network/allele/PA2828514387", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374431.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361360.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361360.1:p.Tyr132_Asp686delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693273" }, { "@id": "http://reg.genome.network/allele/PA2828514559", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374432.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361361.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361361.1:p.Tyr132_Asp682delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuPheLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerTyrThrCysArgHisLeuArgArgTyrValTyrValLeuAspLysLeuTyrPheProHisSerHisCysSerThrLeuGlnHisCysPheSerThrLeuSerAspAsnGlyGluGluLeuLeuSerLeuThrCysSerHisIleLeuArgSerTyrAlaSerSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693274" }, { "@id": "http://reg.genome.network/allele/PA2828514745", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374433.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361362.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361362.1:p.Tyr132_Asn656delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysProLeuAlaAspArgGlnValAspArgValLeuAlaCysGlnAlaPheValTyrAlaAlaSerGlyPheSerGlnPheHisGlyLeuSerValArgAsnPheGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693275" }, { "@id": "http://reg.genome.network/allele/PA2828514938", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374434.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361363.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361363.1:p.Tyr132_Asp631delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693276" }, { "@id": "http://reg.genome.network/allele/PA2828515126", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374435.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361364.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361364.1:p.Tyr132_Asp630delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693277" }, { "@id": "http://reg.genome.network/allele/PA2828515313", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374436.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361365.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361365.1:p.Tyr132_Asp627delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuPheLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693278" }, { "@id": "http://reg.genome.network/allele/PA2828515498", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374437.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361366.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361366.1:p.Tyr132_Asp608delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaAsnSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693279" }, { "@id": "http://reg.genome.network/allele/PA2828515680", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374438.1:c.396T>A" ], "proteinEffect": { "hgvs": "NP_001361367.1:p.Tyr132Ter", "hgvsWellDefined": "NP_001361367.1:p.Tyr132_Asp607delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693280" }, { "@id": "http://reg.genome.network/allele/PA2828515867", "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "T", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374439.1:c.393T>A" ], "proteinEffect": { "hgvs": "NP_001361368.1:p.Tyr131Ter", "hgvsWellDefined": "NP_001361368.1:p.Tyr131_Asp606delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaArgLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693281" }, { "coordinates": [ { "allele": "A", "end": 494, "endIntronDirection": "+", "endIntronOffset": 13001, "referenceAllele": "T", "start": 494, "startIntronDirection": "+", "startIntronOffset": 13000 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374440.1:c.193+13001T>A" ], "proteinEffect": { "hgvs": "NP_001361369.1:n.193+13001T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693282" }, { "coordinates": [ { "allele": "A", "end": 494, "endIntronDirection": "+", "endIntronOffset": 13001, "referenceAllele": "T", "start": 494, "startIntronDirection": "+", "startIntronOffset": 13000 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374441.1:c.193+13001T>A" ], "proteinEffect": { "hgvs": "NP_001361370.1:n.193+13001T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693283" }, { "coordinates": [ { "allele": "A", "end": 494, "endIntronDirection": "+", "endIntronOffset": 13001, "referenceAllele": "T", "start": 494, "startIntronDirection": "+", "startIntronOffset": 13000 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374442.1:c.193+13001T>A" ], "proteinEffect": { "hgvs": "NP_001361371.1:n.193+13001T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693284" }, { "coordinates": [ { "allele": "A", "end": 494, "endIntronDirection": "+", "endIntronOffset": 13001, "referenceAllele": "T", "start": 494, "startIntronDirection": "+", "startIntronOffset": 13000 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374443.1:c.193+13001T>A" ], "proteinEffect": { "hgvs": "NP_001361372.1:n.193+13001T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693285" }, { "coordinates": [ { "allele": "A", "end": 494, "endIntronDirection": "+", "endIntronOffset": 13001, "referenceAllele": "T", "start": 494, "startIntronDirection": "+", "startIntronOffset": 13000 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_001374444.1:c.193+13001T>A" ], "proteinEffect": { "hgvs": "NP_001361373.1:n.193+13001T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693286" }, { "@id": "http://reg.genome.network/allele/PA116048", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN021317", "geneNCBI_id": 54808, "geneSymbol": "DYM", "hgvs": [ "NM_017653.6:c.396T>A" ], "proteinEffect": { "hgvs": "NP_060123.3:p.Tyr132Ter", "hgvsWellDefined": "NP_060123.3:p.Tyr132_Asp669delinsGluGluLysSerProGlyAsnTyrSerSerAspSerGluAspLeuLeuGluGluLeuLeuCysCysLeuMetGlnLeuIleThrAspIleProLeuLeuAspIleThrTyrGluIleSerValGluAlaIleSerThrMetValValPheLeuSerCysGlnLeuPheHisLysGluValLeuArgGlnSerIleSerHisLysTyrLeuMetArgGlyProCysLeuProTyrThrSerLysLeuValLysThrLeuLeuTyrAsnPheIleArgGlnGluLysProProProProGlyAlaHisValPheProGlnGlnSerAspGlyGlyGlyLeuLeuTyrGlyLeuAlaSerGlyValAlaThrGlyLeuTrpThrValPheThrLeuGlyGlyValGlySerLysAlaAlaAlaSerProGluLeuSerSerProLeuAlaAsnGlnSerLeuLeuLeuLeuLeuValLeuAlaAsnLeuThrAspAlaSerAspAlaProAsnProTyrArgGlnAlaIleMetSerPheLysAsnThrGlnAspSerSerProPheProSerSerIleProHisAlaPheGlnIleAsnPheAsnSerLeuTyrThrAlaLeuCysGluGlnGlnThrSerAspGlnAlaThrLeuLeuLeuTyrThrLeuLeuHisGlnAsnSerAsnIleArgThrTyrMetLeuAlaArgThrAspMetGluAsnLeuValLeuProIleLeuGluIleLeuTyrHisValGluGluArgAsnSerHisHisValTyrMetAlaLeuIleIleLeuLeuIleLeuThrGluAspAspGlyPheAsnArgSerIleHisGluValIleLeuLysAsnIleThrTrpTyrSerGluArgValLeuThrGluIleSerLeuGlySerLeuLeuIleLeuValValIleArgThrIleGlnTyrAsnMetThrArgThrArgAspLysTyrLeuHisThrAsnCysLeuAlaAlaLeuAlaAsnMetSerAlaGlnPheArgSerLeuHisGlnTyrAlaAlaGlnArgIleIleSerLeuPheSerLeuLeuSerLysLysHisAsnLysValLeuGluGlnAlaThrGlnSerLeuArgGlySerLeuSerSerAsnAspValProLeuProAspTyrAlaGlnAspLeuAsnValIleGluGluValIleArgMetMetLeuGluIleIleAsnSerCysLeuThrAsnSerLeuHisHisAsnProAsnLeuValTyrAlaLeuLeuTyrLysArgAspLeuPheGluGlnPheArgThrHisProSerPheGlnAspIleMetGlnAsnIleAspLeuValIleSerPhePheSerSerArgLeuLeuGlnAlaGlyAlaGluLeuSerValGluArgValLeuGluIleIleLysGlnGlyValValAlaLeuProLysAspArgLeuLysLysPheProGluLeuLysPheLysTyrValGluGluGluGlnProGluGluPhePheIleProTyrValTrpSerLeuValTyrAsnSerAlaValGlyLeuTyrTrpAsnProGlnAspIleGlnLeuPheThrMetAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697841" } ], "type": "nucleotide" }