{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402344559", "communityStandardTitle": [ "NM_020964.3(EPG5):c.5515C>T (p.Gln1839Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.43462242G>A?assembly=hg19", "id": "chr18:g.43462242G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.45882277G>A?assembly=hg38", "id": "chr18:g.45882277G>A" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 45882277, "referenceAllele": "G", "start": 45882276 } ], "hgvs": [ "NC_000018.10:g.45882277G>A", "CM000680.2:g.45882277G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 43462242, "referenceAllele": "G", "start": 43462241 } ], "hgvs": [ "NC_000018.9:g.43462242G>A", "CM000680.1:g.43462242G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 41716240, "referenceAllele": "G", "start": 41716239 } ], "hgvs": [ "NC_000018.8:g.41716240G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 90063, "referenceAllele": "C", "start": 90062 } ], "hgvs": [ "NG_042838.1:g.90063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS006040" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3776, "referenceAllele": "C", "start": 3775 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000586655.2:n.3776C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906064" }, { "coordinates": [ { "allele": "T", "end": 5641, "referenceAllele": "C", "start": 5640 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.2:c.5641C>T" ], "proteinEffect": { "hgvs": "ENSP00000466990.2:n.5641C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906074" }, { "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "C", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587973.2:n.1380C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906075" }, { "coordinates": [ { "allele": "T", "end": 5459, "referenceAllele": "C", "start": 5458 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.6:c.5459C>T" ], "proteinEffect": { "hgvs": "ENSP00000466403.2:n.5459C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906104" }, { "coordinates": [ { "allele": "T", "end": 5515, "referenceAllele": "C", "start": 5514 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.6:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000467464.2:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000467464.2:p.Gln1839_Arg1981delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906112" }, { "coordinates": [ { "allele": "T", "end": 2147, "referenceAllele": "C", "start": 2146 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696481.1:n.2147C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907933" }, { "coordinates": [ { "allele": "T", "end": 5255, "referenceAllele": "C", "start": 5254 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696482.1:c.5255C>T" ], "proteinEffect": { "hgvs": "ENSP00000512656.1:n.5255C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907934" }, { "coordinates": [ { "allele": "T", "end": 5603, "referenceAllele": "C", "start": 5602 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696483.1:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000512657.1:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000512657.1:p.Gln1839_Val2544delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907935" }, { "coordinates": [ { "allele": "T", "end": 5603, "referenceAllele": "C", "start": 5602 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696484.1:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000512658.1:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000512658.1:p.Gln1839_Pro2492delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgTyrGlnAspAlaHisLeuLeuArgGlyLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907936" }, { "coordinates": [ { "allele": "T", "end": 5547, "referenceAllele": "C", "start": 5546 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696485.1:c.*110C>T" ], "proteinEffect": { "hgvs": "ENSP00000512659.1:n.*110C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907937" }, { "coordinates": [ { "allele": "T", "end": 5515, "referenceAllele": "C", "start": 5514 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696489.1:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000512660.1:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000512660.1:p.Gln1839_Arg2578delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907939" }, { "coordinates": [ { "allele": "T", "end": 5603, "referenceAllele": "C", "start": 5602 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696490.1:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000512661.1:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000512661.1:p.Gln1839_Leu2482delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907940" }, { "coordinates": [ { "allele": "T", "end": 5605, "referenceAllele": "C", "start": 5604 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.11:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000282041.4:p.Gln1839_Arg2579delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743640", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5515C>T" }, "RefSeq": { "hgvs": "NM_020964.3:c.5515C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Gln1839Ter" }, "RefSeq": { "hgvs": "NP_066015.2:p.Gln1839Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5550, "referenceAllele": "C", "start": 5549 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.9:c.5515C>T" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Gln1839Ter", "hgvsWellDefined": "ENSP00000282041.4:p.Gln1839_Arg2579delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253043" }, { "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000585906.5:n.2294C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389024" }, { "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.1:c.*1255C>T" ], "proteinEffect": { "hgvs": "ENSP00000466990.1:n.*1255C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390394" }, { "coordinates": [ { "allele": "T", "end": 2092, "referenceAllele": "C", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.5:c.*110C>T" ], "proteinEffect": { "hgvs": "ENSP00000466403.1:n.*110C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS392506" }, { "coordinates": [ { "allele": "T", "end": 2148, "referenceAllele": "C", "start": 2147 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.5:c.2140C>T" ], "proteinEffect": { "hgvs": "ENSP00000467464.1:p.Gln714Ter", "hgvsWellDefined": "ENSP00000467464.1:p.Gln714_Arg856delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393448" }, { "coordinates": [ { "allele": "T", "end": 5615, "referenceAllele": "C", "start": 5614 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.2:c.5515C>T" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Gln1839Ter", "hgvsWellDefined": "NP_066015.2:p.Gln1839_Arg2579delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036728" }, { "coordinates": [ { "allele": "T", "end": 5642, "referenceAllele": "C", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526120.1:c.5542C>T" ], "proteinEffect": { "hgvs": "XP_011524422.1:p.Gln1848Ter", "hgvsWellDefined": "XP_011524422.1:p.Gln1848_Thr2598delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093227" }, { "coordinates": [ { "allele": "T", "end": 5642, "referenceAllele": "C", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526121.1:c.5542C>T" ], "proteinEffect": { "hgvs": "XP_011524423.1:p.Gln1848Ter", "hgvsWellDefined": "XP_011524423.1:p.Gln1848_Thr2597delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093228" }, { "coordinates": [ { "allele": "T", "end": 5615, "referenceAllele": "C", "start": 5614 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526122.1:c.5515C>T" ], "proteinEffect": { "hgvs": "XP_011524424.1:p.Gln1839Ter", "hgvsWellDefined": "XP_011524424.1:p.Gln1839_Thr2589delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093229" }, { "coordinates": [ { "allele": "T", "end": 5642, "referenceAllele": "C", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526123.1:c.5542C>T" ], "proteinEffect": { "hgvs": "XP_011524425.1:p.Gln1848Ter", "hgvsWellDefined": "XP_011524425.1:p.Gln1848_Arg2588delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093230" }, { "coordinates": [ { "allele": "T", "end": 5642, "referenceAllele": "C", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526124.1:c.5542C>T" ], "proteinEffect": { "hgvs": "XP_011524426.1:p.Gln1848Ter", "hgvsWellDefined": "XP_011524426.1:p.Gln1848_Val2553delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093231" }, { "coordinates": [ { "allele": "T", "end": 5501, "referenceAllele": "C", "start": 5500 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526125.1:c.5401C>T" ], "proteinEffect": { "hgvs": "XP_011524427.1:p.Gln1801Ter", "hgvsWellDefined": "XP_011524427.1:p.Gln1801_Thr2551delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093232" }, { "coordinates": [ { "allele": "T", "end": 5665, "referenceAllele": "C", "start": 5664 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526126.1:c.4477C>T" ], "proteinEffect": { "hgvs": "XP_011524428.1:p.Gln1493Ter", "hgvsWellDefined": "XP_011524428.1:p.Gln1493_Thr2243delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093233" }, { "coordinates": [ { "allele": "T", "end": 5642, "referenceAllele": "C", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526127.1:c.5542C>T" ], "proteinEffect": { "hgvs": "XP_011524429.1:p.Gln1848Ter", "hgvsWellDefined": "XP_011524429.1:p.Gln1848_Arg1990delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093234" }, { "coordinates": [ { "allele": "T", "end": 5615, "referenceAllele": "C", "start": 5614 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_935244.1:n.5615C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130512" }, { "coordinates": [ { "allele": "T", "end": 5605, "referenceAllele": "C", "start": 5604 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.3:c.5515C>T" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Gln1839Ter", "hgvsWellDefined": "NP_066015.2:p.Gln1839_Arg2579delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526024", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5515C>T" }, "RefSeq": { "hgvs": "NM_020964.3:c.5515C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Gln1839Ter" }, "RefSeq": { "hgvs": "NP_066015.2:p.Gln1839Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5597, "referenceAllele": "C", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025889.1:c.5515C>T" ], "proteinEffect": { "hgvs": "XP_016881378.1:p.Gln1839Ter", "hgvsWellDefined": "XP_016881378.1:p.Gln1839_Thr2588delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576123" }, { "coordinates": [ { "allele": "T", "end": 5597, "referenceAllele": "C", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025890.2:c.5515C>T" ], "proteinEffect": { "hgvs": "XP_016881379.1:p.Gln1839Ter", "hgvsWellDefined": "XP_016881379.1:p.Gln1839_Val2544delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576124" }, { "coordinates": [ { "allele": "T", "end": 5474, "referenceAllele": "C", "start": 5473 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025891.1:c.5374C>T" ], "proteinEffect": { "hgvs": "XP_016881380.1:p.Gln1792Ter", "hgvsWellDefined": "XP_016881380.1:p.Gln1792_Thr2542delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576125" }, { "coordinates": [ { "allele": "T", "end": 5640, "referenceAllele": "C", "start": 5639 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025892.1:c.4450C>T" ], "proteinEffect": { "hgvs": "XP_016881381.1:p.Gln1484Ter", "hgvsWellDefined": "XP_016881381.1:p.Gln1484_Thr2234delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576126" }, { "coordinates": [ { "allele": "T", "end": 3487, "referenceAllele": "C", "start": 3486 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025893.1:c.2140C>T" ], "proteinEffect": { "hgvs": "XP_016881382.1:p.Gln714Ter", "hgvsWellDefined": "XP_016881382.1:p.Gln714_Thr1464delinsSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576127" }, { "coordinates": [ { "allele": "T", "end": 5597, "referenceAllele": "C", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753256.1:n.5597C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599808" }, { "coordinates": [ { "allele": "T", "end": 5541, "referenceAllele": "C", "start": 5540 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753257.1:n.5541C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599809" } ], "type": "nucleotide" }