{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365535048", "communityStandardTitle": [ "NM_013352.4(DSE):c.416G>A (p.Trp139Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.116720829G>A?assembly=hg19", "id": "chr6:g.116720829G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.116399666G>A?assembly=hg38", "id": "chr6:g.116399666G>A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 116399666, "referenceAllele": "G", "start": 116399665 } ], "hgvs": [ "NC_000006.12:g.116399666G>A", "CM000668.2:g.116399666G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 116720829, "referenceAllele": "G", "start": 116720828 } ], "hgvs": [ "NC_000006.11:g.116720829G>A", "CM000668.1:g.116720829G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 116827522, "referenceAllele": "G", "start": 116827521 } ], "hgvs": [ "NC_000006.10:g.116827522G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 124547, "referenceAllele": "G", "start": 124546 } ], "hgvs": [ "NG_033266.1:g.124547G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005501" }, { "coordinates": [ { "allele": "A", "end": 150515, "referenceAllele": "G", "start": 150514 } ], "hgvs": [ "NG_033266.3:g.150515G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616354" }, { "coordinates": [ { "allele": "A", "end": 150496, "referenceAllele": "G", "start": 150495 } ], "hgvs": [ "NG_033266.4:g.150496G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733360" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000359564.3:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000352567.3:p.Trp139Ter", "hgvsWellDefined": "ENSP00000352567.3:p.Trp139_Ala308delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749213" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000643175.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000495885.1:p.Trp139Ter", "hgvsWellDefined": "ENSP00000495885.1:p.Trp139Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767135" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000644252.3:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000494147.2:p.Trp139Ter", "hgvsWellDefined": "ENSP00000494147.2:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767722", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644252.3:c.416G>A" }, "RefSeq": { "hgvs": "NM_013352.4:c.416G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494147.2:p.Trp139Ter" }, "RefSeq": { "hgvs": "NP_037484.1:p.Trp139Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "G", "start": 271 } ], "hgvs": [ "ENST00000644499.1:c.272G>A" ], "proteinEffect": { "hgvs": "ENSP00000495266.1:p.Trp91Ter", "hgvsWellDefined": "ENSP00000495266.1:p.Trp91_Ser282delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyValGlyLeuAspLeuAspSerSerCysTyrHisHisSerSerAspPheTyrIleCysHisProMetProIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767846" }, { "coordinates": [ { "allele": "A", "end": 604, "referenceAllele": "G", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000646710.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000495970.1:p.Trp139Ter", "hgvsWellDefined": "ENSP00000495970.1:p.Trp139_Ala228delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769027" }, { "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000647244.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000495184.1:p.Trp139Ter", "hgvsWellDefined": "ENSP00000495184.1:p.Trp139_Ala228delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769310" }, { "coordinates": [ { "allele": "A", "end": 860, "referenceAllele": "G", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000331677.7:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000332151.2:p.Trp139Ter", "hgvsWellDefined": "ENSP00000332151.2:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259446" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000359564.2:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000352567.2:p.Trp139Ter", "hgvsWellDefined": "ENSP00000352567.2:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264831" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000430252.6:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000397597.2:p.Trp139Ter", "hgvsWellDefined": "ENSP00000397597.2:p.Trp139_Ala144del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291050" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000452085.7:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000404049.2:p.Trp139Ter", "hgvsWellDefined": "ENSP00000404049.2:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301460" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "ENST00000607094.1:n.1058G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS399836" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001080976.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001074445.1:p.Trp139Ter", "hgvsWellDefined": "NP_001074445.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010320" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_013352.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_037484.1:p.Trp139Ter", "hgvsWellDefined": "NP_037484.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032741" }, { "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "XM_011535785.1:c.-172G>A" ], "proteinEffect": { "hgvs": "XP_011534087.1:n.-172G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS102787" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "G", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001080976.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001074445.1:p.Trp139Ter", "hgvsWellDefined": "NP_001074445.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511255" }, { "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "G", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322937.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309866.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309866.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515183" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322938.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309867.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309867.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515184" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322939.1:c.473G>A" ], "proteinEffect": { "hgvs": "NP_001309868.1:p.Trp158Ter", "hgvsWellDefined": "NP_001309868.1:p.Trp158_Cys977delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515185" }, { "coordinates": [ { "allele": "A", "end": 1219, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 1219, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322940.1:c.-146+4G>A" ], "proteinEffect": { "hgvs": "NP_001309869.1:n.-146+4G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515186" }, { "coordinates": [ { "allele": "A", "end": 717, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 717, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322941.1:c.-146+4G>A" ], "proteinEffect": { "hgvs": "NP_001309870.1:n.-146+4G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515187" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322943.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309872.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309872.1:p.Trp139_Ala228delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515188" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322944.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309873.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309873.1:p.Trp139_Ala308delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515189" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_013352.3:c.416G>A" ], "proteinEffect": { "hgvs": "NP_037484.1:p.Trp139Ter", "hgvsWellDefined": "NP_037484.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525533" }, { "coordinates": [ { "allele": "A", "end": 663, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 663, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NR_136524.1:n.663+4G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS528812" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "XM_017010795.1:c.473G>A" ], "proteinEffect": { "hgvs": "XP_016866284.1:p.Trp158Ter", "hgvsWellDefined": "XP_016866284.1:p.Trp158_Cys977delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564770" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "G", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "XM_017010796.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_016866285.1:p.Trp139Ter", "hgvsWellDefined": "XP_016866285.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564771" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "XM_017010797.1:c.473G>A" ], "proteinEffect": { "hgvs": "XP_016866286.1:p.Trp158Ter", "hgvsWellDefined": "XP_016866286.1:p.Trp158_Ala327delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564772" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001080976.3:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001074445.1:p.Trp139Ter", "hgvsWellDefined": "NP_001074445.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676309" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322937.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309866.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309866.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685865" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322938.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309867.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309867.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685866" }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "G", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322939.2:c.473G>A" ], "proteinEffect": { "hgvs": "NP_001309868.1:p.Trp158Ter", "hgvsWellDefined": "NP_001309868.1:p.Trp158_Cys977delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685867" }, { "coordinates": [ { "allele": "A", "end": 1200, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 1200, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322940.2:c.-146+4G>A" ], "proteinEffect": { "hgvs": "NP_001309869.1:n.-146+4G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685868" }, { "coordinates": [ { "allele": "A", "end": 640, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 640, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322941.2:c.-146+4G>A" ], "proteinEffect": { "hgvs": "NP_001309870.1:n.-146+4G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685869" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322943.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309872.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309872.1:p.Trp139_Ala228delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685870" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001322944.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001309873.1:p.Trp139Ter", "hgvsWellDefined": "NP_001309873.1:p.Trp139_Ala308delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyMetMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685871" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001374520.1:c.-485G>A" ], "proteinEffect": { "hgvs": "NP_001361449.1:n.-485G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693319" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001374521.1:c.-172G>A" ], "proteinEffect": { "hgvs": "NP_001361450.1:n.-172G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693320" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_001374522.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001361451.1:p.Trp139Ter", "hgvsWellDefined": "NP_001361451.1:p.Trp139_Leu317delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyIleValArgSerGlnLysCysGluAsnIleLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693321" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NM_013352.4:c.416G>A" ], "proteinEffect": { "hgvs": "NP_037484.1:p.Trp139Ter", "hgvsWellDefined": "NP_037484.1:p.Trp139_Cys958delinsLeuValLysAspAlaProTrpAspGluValProLeuAlaHisSerLeuValGlyPheAlaThrAlaTyrAspPheLeuTyrAsnTyrLeuSerLysThrGlnGlnGluLysPheLeuGluValIleAlaAsnAlaSerGlyTyrMetTyrGluThrSerTyrArgArgGlyTrpGlyPheGlnTyrLeuHisAsnHisGlnProThrAsnCysMetAlaLeuLeuThrGlySerLeuValLeuMetAsnGlnGlyTyrLeuGlnGluAlaTyrLeuTrpThrLysGlnValLeuThrIleMetGluLysSerLeuValLeuLeuArgGluValThrAspGlySerLeuTyrGluGlyValAlaTyrGlySerTyrThrThrArgSerLeuPheGlnTyrMetPheLeuValGlnArgHisPheAsnIleAsnHisPheGlyHisProTrpLeuLysGlnHisPheAlaPheMetTyrArgThrIleLeuProGlyPheGlnArgThrValAlaIleAlaAspSerAsnTyrAsnTrpPheTyrGlyProGluSerGlnLeuValPheLeuAspLysPheValMetArgAsnGlySerGlyAsnTrpLeuAlaAspGlnIleArgArgAsnArgValValGluGlyProGlyThrProSerLysGlyGlnArgTrpCysThrLeuHisThrGluPheLeuTrpTyrAspGlySerLeuLysSerValProProProAspPheGlyThrProThrLeuHisTyrPheGluAspTrpGlyValValThrTyrGlySerAlaLeuProAlaGluIleAsnArgSerPheLeuSerPheLysSerGlyLysLeuGlyGlyArgAlaIleTyrAspIleValHisArgAsnLysTyrLysAspTrpIleLysGlyTrpArgAsnPheAsnAlaGlyHisGluHisProAspGlnAsnSerPheThrPheAlaProAsnGlyValProPheIleThrGluAlaLeuTyrGlyProLysTyrThrPhePheAsnAsnValLeuMetPheSerProAlaValSerLysSerCysPheSerProTrpValGlyGlnValThrGluAspCysSerSerLysTrpSerLysTyrLysHisAspLeuAlaAlaSerCysGlnGlyArgValValAlaAlaGluGluLysAsnGlyValValPheIleArgGlyGluGlyValGlyAlaTyrAsnProGlnLeuAsnLeuLysAsnValGlnArgAsnLeuIleLeuLeuHisProGlnLeuLeuLeuLeuValAspGlnIleHisLeuGlyGluGluSerProLeuGluThrAlaAlaSerPhePheHisAsnValAspValProPheGluGluThrValValAspGlyValHisGlyAlaPheIleArgGlnArgAspGlyLeuTyrLysMetTyrTrpMetAspAspThrGlyTyrSerGluLysAlaThrPheAlaSerValThrTyrProArgGlyTyrProTyrAsnGlyThrAsnTyrValAsnValThrMetHisLeuArgSerProIleThrArgAlaAlaTyrLeuPheIleGlyProSerIleAspValGlnSerPheThrValHisGlyAspSerGlnGlnLeuAspValPheIleAlaThrSerLysHisAlaTyrAlaThrTyrLeuTrpThrGlyGluAlaThrGlyGlnSerAlaPheAlaGlnValIleAlaAspArgHisLysIleLeuPheAspArgAsnSerAlaIleLysSerSerIleValProGluValLysAspTyrAlaAlaIleValGluGlnAsnLeuGlnHisPheLysProValPheGlnLeuLeuGluLysGlnIleLeuSerArgValArgAsnThrAlaSerPheArgLysThrAlaGluArgLeuLeuArgPheSerAspLysArgGlnThrGluGluAlaIleAspArgIlePheAlaIleSerGlnGlnGlnGlnGlnGlnSerLysSerLysLysAsnArgArgAlaGlyLysArgTyrLysPheValAspAlaValProAspIlePheAlaGlnIleGluValAsnGluLysLysIleArgGlnLysAlaGlnIleLeuAlaGlnLysGluLeuProIleAspGluAspGluGluMetLysAspLeuLeuAspPheAlaAspValThrTyrGluLysHisLysAsnGlyGlyLeuIleLysGlyArgPheGlyGlnAlaArgMetValThrThrThrHisSerArgAlaProSerLeuSerAlaSerTyrThrArgLeuPheLeuIleLeuAsnIleAlaIlePhePheValMetLeuAlaMetGlnLeuThrTyrPheGlnArgAlaGlnSerLeuHisGlyGlnArgCysLeuTyrAlaValLeuLeuIleAspSerCysIleLeuLeuTrpLeuTyrSerSerCysSerGlnSerGlnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697117", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644252.3:c.416G>A" }, "RefSeq": { "hgvs": "NM_013352.4:c.416G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494147.2:p.Trp139Ter" }, "RefSeq": { "hgvs": "NP_037484.1:p.Trp139Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 640, "endIntronDirection": "+", "endIntronOffset": 4, "referenceAllele": "G", "start": 640, "startIntronDirection": "+", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN021144", "geneNCBI_id": 29940, "geneSymbol": "DSE", "hgvs": [ "NR_136524.2:n.640+4G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703860" } ], "type": "nucleotide" }