{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402345012", "communityStandardTitle": [ "NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2270225[alleleid]", "alleleId": 2270225, "preferredName": "NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2279111", "RCV": [ "RCV002844543" ], "variationId": 2279111 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.43462443T>A?assembly=hg19", "id": "chr18:g.43462443T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.45882478T>A?assembly=hg38", "id": "chr18:g.45882478T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2511593479", "rs": 2511593479 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 45882478, 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"http://reg.genome.network/refseq/RS907933" }, { "coordinates": [ { "allele": "T", "end": 5054, "referenceAllele": "A", "start": 5053 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696482.1:c.5054A>T" ], "proteinEffect": { "hgvs": "ENSP00000512656.1:n.5054A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907934" }, { "coordinates": [ { "allele": "T", "end": 5402, "referenceAllele": "A", "start": 5401 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696483.1:c.5314A>T" ], "proteinEffect": { "hgvs": "ENSP00000512657.1:p.Lys1772Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907936" }, { "coordinates": [ { "allele": "T", "end": 5392, "endIntronDirection": "-", "endIntronOffset": 46, "referenceAllele": "A", "start": 5392, "startIntronDirection": "-", "startIntronOffset": 47 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696485.1:c.5305-47A>T" ], "proteinEffect": { "hgvs": "ENSP00000512659.1:n.5305-47A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907937" }, { "coordinates": [ { "allele": "T", "end": 5314, "referenceAllele": "A", "start": 5313 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696489.1:c.5314A>T" ], "proteinEffect": { "hgvs": "ENSP00000512660.1:p.Lys1772Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907939" }, { "coordinates": [ { "allele": "T", "end": 5402, "referenceAllele": "A", "start": 5401 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696490.1:c.5314A>T" ], "proteinEffect": { "hgvs": "ENSP00000512661.1:p.Lys1772Ter", "hgvsWellDefined": "ENSP00000512661.1:p.Lys1772_Leu2482delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907940" }, { "coordinates": [ { "allele": "T", "end": 5404, "referenceAllele": "A", "start": 5403 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.11:c.5314A>T" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Lys1772Ter", "hgvsWellDefined": "ENSP00000282041.4:p.Lys1772_Arg2579delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743640", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5314A>T" }, "RefSeq": { "hgvs": "NM_020964.3:c.5314A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Lys1772Ter" }, "RefSeq": { "hgvs": "NP_066015.2:p.Lys1772Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5349, "referenceAllele": "A", "start": 5348 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.9:c.5314A>T" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Lys1772Ter", "hgvsWellDefined": "ENSP00000282041.4:p.Lys1772_Arg2579delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253043" }, { "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "A", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000585906.5:n.2093A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389024" }, { "coordinates": [ { "allele": "T", "end": 2073, "referenceAllele": "A", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.1:c.*1054A>T" ], "proteinEffect": { "hgvs": "ENSP00000466990.1:n.*1054A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390394" }, { "coordinates": [ { "allele": "T", "end": 1937, "endIntronDirection": "-", "endIntronOffset": 46, "referenceAllele": "A", "start": 1937, "startIntronDirection": "-", "startIntronOffset": 47 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.5:c.1930-47A>T" ], "proteinEffect": { "hgvs": "ENSP00000466403.1:n.1930-47A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS392506" }, { "coordinates": [ { "allele": "T", "end": 1947, "referenceAllele": "A", "start": 1946 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.5:c.1939A>T" ], "proteinEffect": { "hgvs": "ENSP00000467464.1:p.Lys647Ter", "hgvsWellDefined": "ENSP00000467464.1:p.Lys647_Arg856delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393448" }, { "@id": "http://reg.genome.network/allele/PA2580440656", "coordinates": [ { "allele": "T", "end": 5414, "referenceAllele": "A", "start": 5413 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.2:c.5314A>T" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Lys1772Ter", "hgvsWellDefined": "NP_066015.2:p.Lys1772_Arg2579delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036728" }, { "coordinates": [ { "allele": "T", "end": 5441, "referenceAllele": "A", "start": 5440 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526120.1:c.5341A>T" ], "proteinEffect": { "hgvs": "XP_011524422.1:p.Lys1781Ter", "hgvsWellDefined": "XP_011524422.1:p.Lys1781_Thr2598delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093227" }, { "coordinates": [ { "allele": "T", "end": 5441, "referenceAllele": "A", "start": 5440 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526121.1:c.5341A>T" ], "proteinEffect": { "hgvs": "XP_011524423.1:p.Lys1781Ter", "hgvsWellDefined": "XP_011524423.1:p.Lys1781_Thr2597delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093228" }, { "coordinates": [ { "allele": "T", "end": 5414, "referenceAllele": "A", "start": 5413 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526122.1:c.5314A>T" ], "proteinEffect": { "hgvs": "XP_011524424.1:p.Lys1772Ter", "hgvsWellDefined": "XP_011524424.1:p.Lys1772_Thr2589delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093229" }, { "coordinates": [ { "allele": "T", "end": 5441, "referenceAllele": "A", "start": 5440 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526123.1:c.5341A>T" ], "proteinEffect": { "hgvs": "XP_011524425.1:p.Lys1781Ter", "hgvsWellDefined": "XP_011524425.1:p.Lys1781_Arg2588delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093230" }, { "coordinates": [ { "allele": "T", "end": 5441, "referenceAllele": "A", "start": 5440 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526124.1:c.5341A>T" ], "proteinEffect": { "hgvs": "XP_011524426.1:p.Lys1781Ter", "hgvsWellDefined": "XP_011524426.1:p.Lys1781_Val2553delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093231" }, { "coordinates": [ { "allele": "T", "end": 5300, "referenceAllele": "A", "start": 5299 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526125.1:c.5200A>T" ], "proteinEffect": { "hgvs": "XP_011524427.1:p.Lys1734Ter", "hgvsWellDefined": "XP_011524427.1:p.Lys1734_Thr2551delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093232" }, { "coordinates": [ { "allele": "T", "end": 5464, "referenceAllele": "A", "start": 5463 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526126.1:c.4276A>T" ], "proteinEffect": { "hgvs": "XP_011524428.1:p.Lys1426Ter", "hgvsWellDefined": "XP_011524428.1:p.Lys1426_Thr2243delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093233" }, { "coordinates": [ { "allele": "T", "end": 5441, "referenceAllele": "A", "start": 5440 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526127.1:c.5341A>T" ], "proteinEffect": { "hgvs": "XP_011524429.1:p.Lys1781Ter", "hgvsWellDefined": "XP_011524429.1:p.Lys1781_Arg1990delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093234" }, { "coordinates": [ { "allele": "T", "end": 5431, "endIntronDirection": "-", "endIntronOffset": 46, "referenceAllele": "A", "start": 5431, "startIntronDirection": "-", "startIntronOffset": 47 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526128.1:c.5332-47A>T" ], "proteinEffect": { "hgvs": "XP_011524430.1:n.5332-47A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS093235" }, { "coordinates": [ { "allele": "T", "end": 5414, "referenceAllele": "A", "start": 5413 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_935244.1:n.5414A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130512" }, { "@id": "http://reg.genome.network/allele/PA2580440656", "coordinates": [ { "allele": "T", "end": 5404, "referenceAllele": "A", "start": 5403 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.3:c.5314A>T" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Lys1772Ter", "hgvsWellDefined": "NP_066015.2:p.Lys1772_Arg2579delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526024", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5314A>T" }, "RefSeq": { "hgvs": "NM_020964.3:c.5314A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Lys1772Ter" }, "RefSeq": { "hgvs": "NP_066015.2:p.Lys1772Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5396, "referenceAllele": "A", "start": 5395 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025889.1:c.5314A>T" ], "proteinEffect": { "hgvs": "XP_016881378.1:p.Lys1772Ter", "hgvsWellDefined": "XP_016881378.1:p.Lys1772_Thr2588delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576123" }, { "coordinates": [ { "allele": "T", "end": 5396, "referenceAllele": "A", "start": 5395 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025890.2:c.5314A>T" ], "proteinEffect": { "hgvs": "XP_016881379.1:p.Lys1772Ter", "hgvsWellDefined": "XP_016881379.1:p.Lys1772_Val2544delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576124" }, { "coordinates": [ { "allele": "T", "end": 5273, "referenceAllele": "A", "start": 5272 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025891.1:c.5173A>T" ], "proteinEffect": { "hgvs": "XP_016881380.1:p.Lys1725Ter", "hgvsWellDefined": "XP_016881380.1:p.Lys1725_Thr2542delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576125" }, { "coordinates": [ { "allele": "T", "end": 5439, "referenceAllele": "A", "start": 5438 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025892.1:c.4249A>T" ], "proteinEffect": { "hgvs": "XP_016881381.1:p.Lys1417Ter", "hgvsWellDefined": "XP_016881381.1:p.Lys1417_Thr2234delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576126" }, { "coordinates": [ { "allele": "T", "end": 3286, "referenceAllele": "A", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025893.1:c.1939A>T" ], "proteinEffect": { "hgvs": "XP_016881382.1:p.Lys647Ter", "hgvsWellDefined": "XP_016881382.1:p.Lys647_Thr1464delinsGlnTrpLeuSerAlaThrLysProProLeuSerAspArgThrArgLeuLeuGluSerIleHisLeuAlaLeuThrAlaTrpGlyLeuGluProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576127" }, { "coordinates": [ { "allele": "T", "end": 5396, "referenceAllele": "A", "start": 5395 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753256.1:n.5396A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599808" }, { "coordinates": [ { "allele": "T", "end": 5386, "endIntronDirection": "-", "endIntronOffset": 46, "referenceAllele": "A", "start": 5386, "startIntronDirection": "-", "startIntronOffset": 47 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753257.1:n.5387-47A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599809" } ], "type": "nucleotide" }