{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402344821", "communityStandardTitle": [ "NM_020964.3(EPG5):c.5404G>T (p.Glu1802Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.43462353C>A?assembly=hg19", "id": "chr18:g.43462353C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.45882388C>A?assembly=hg38", "id": "chr18:g.45882388C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/763947617", "rs": 763947617 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-43462353-C-A?dataset=gnomad_r2_1", "id": "18-43462353-C-A", "variant": "18:43462353 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-45882388-C-A?dataset=gnomad_r4", "id": "18-45882388-C-A", "variant": "18:45882388 C / A" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 45882388, 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"ENSP00000467464.2:p.Glu1802_Arg1981delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906112" }, { "coordinates": [ { "allele": "T", "end": 2036, "referenceAllele": "G", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696481.1:n.2036G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907933" }, { "coordinates": [ { "allele": "T", "end": 5144, "referenceAllele": "G", "start": 5143 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696482.1:c.5144G>T" ], "proteinEffect": { "hgvs": "ENSP00000512656.1:n.5144G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS907934" }, { "coordinates": [ { "allele": "T", "end": 5492, "referenceAllele": "G", "start": 5491 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696483.1:c.5404G>T" ], "proteinEffect": { "hgvs": "ENSP00000512657.1:p.Glu1802Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907935" }, { "coordinates": [ { "allele": "T", "end": 5492, "referenceAllele": "G", "start": 5491 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696484.1:c.5404G>T" ], "proteinEffect": { "hgvs": "ENSP00000512658.1:p.Glu1802Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907936" }, { "coordinates": [ { "allele": "T", "end": 5436, "referenceAllele": "G", "start": 5435 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696485.1:c.5348G>T" ], "proteinEffect": { "hgvs": "ENSP00000512659.1:p.Ter1783Leu", "hgvsWellDefined": "ENSP00000512659.1:p.Pro1782_Ter1783insLeuThrArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS907937" }, { "coordinates": [ { "allele": "T", "end": 5404, "referenceAllele": "G", "start": 5403 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696489.1:c.5404G>T" ], "proteinEffect": { "hgvs": "ENSP00000512660.1:p.Glu1802Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS907939" }, { "coordinates": [ { "allele": "T", "end": 5492, "referenceAllele": "G", "start": 5491 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000696490.1:c.5404G>T" ], "proteinEffect": { "hgvs": "ENSP00000512661.1:p.Glu1802Ter", "hgvsWellDefined": "ENSP00000512661.1:p.Glu1802_Leu2482delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907940" }, { "coordinates": [ { "allele": "T", "end": 5494, "referenceAllele": "G", "start": 5493 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.11:c.5404G>T" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Glu1802Ter", "hgvsWellDefined": "ENSP00000282041.4:p.Glu1802_Arg2579delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743640", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5404G>T" }, "RefSeq": { "hgvs": "NM_020964.3:c.5404G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Glu1802Ter" }, "RefSeq": { "hgvs": "NP_066015.2:p.Glu1802Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5439, "referenceAllele": "G", "start": 5438 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000282041.9:c.5404G>T" ], "proteinEffect": { "hgvs": "ENSP00000282041.4:p.Glu1802Ter", "hgvsWellDefined": "ENSP00000282041.4:p.Glu1802_Arg2579delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253043" }, { "coordinates": [ { "allele": "T", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000585906.5:n.2183G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389024" }, { "coordinates": [ { "allele": "T", "end": 2163, "referenceAllele": "G", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000587884.1:c.*1144G>T" ], "proteinEffect": { "hgvs": "ENSP00000466990.1:n.*1144G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390394" }, { "coordinates": [ { "allele": "T", "end": 1981, "referenceAllele": "G", "start": 1980 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000590884.5:c.1973G>T" ], "proteinEffect": { "hgvs": "ENSP00000466403.1:p.Ter658Leu", "hgvsWellDefined": "ENSP00000466403.1:p.Pro657_Ter658insLeuThrArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS392506" }, { "coordinates": [ { "allele": "T", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "ENST00000592272.5:c.2029G>T" ], "proteinEffect": { "hgvs": "ENSP00000467464.1:p.Glu677Ter", "hgvsWellDefined": "ENSP00000467464.1:p.Glu677_Arg856delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393448" }, { "@id": "http://reg.genome.network/allele/PA3085535836", "coordinates": [ { "allele": "T", "end": 5504, "referenceAllele": "G", "start": 5503 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.2:c.5404G>T" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Glu1802Ter", "hgvsWellDefined": "NP_066015.2:p.Glu1802_Arg2579delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036728" }, { "coordinates": [ { "allele": "T", "end": 5531, "referenceAllele": "G", "start": 5530 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526120.1:c.5431G>T" ], "proteinEffect": { "hgvs": "XP_011524422.1:p.Glu1811Ter", "hgvsWellDefined": "XP_011524422.1:p.Glu1811_Thr2598delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093227" }, { "coordinates": [ { "allele": "T", "end": 5531, "referenceAllele": "G", "start": 5530 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526121.1:c.5431G>T" ], "proteinEffect": { "hgvs": "XP_011524423.1:p.Glu1811Ter", "hgvsWellDefined": "XP_011524423.1:p.Glu1811_Thr2597delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093228" }, { "coordinates": [ { "allele": "T", "end": 5504, "referenceAllele": "G", "start": 5503 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526122.1:c.5404G>T" ], "proteinEffect": { "hgvs": "XP_011524424.1:p.Glu1802Ter", "hgvsWellDefined": "XP_011524424.1:p.Glu1802_Thr2589delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093229" }, { "coordinates": [ { "allele": "T", "end": 5531, "referenceAllele": "G", "start": 5530 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526123.1:c.5431G>T" ], "proteinEffect": { "hgvs": "XP_011524425.1:p.Glu1811Ter", "hgvsWellDefined": "XP_011524425.1:p.Glu1811_Arg2588delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093230" }, { "coordinates": [ { "allele": "T", "end": 5531, "referenceAllele": "G", "start": 5530 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526124.1:c.5431G>T" ], "proteinEffect": { "hgvs": "XP_011524426.1:p.Glu1811Ter", "hgvsWellDefined": "XP_011524426.1:p.Glu1811_Val2553delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093231" }, { "coordinates": [ { "allele": "T", "end": 5390, "referenceAllele": "G", "start": 5389 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526125.1:c.5290G>T" ], "proteinEffect": { "hgvs": "XP_011524427.1:p.Glu1764Ter", "hgvsWellDefined": "XP_011524427.1:p.Glu1764_Thr2551delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093232" }, { "coordinates": [ { "allele": "T", "end": 5554, "referenceAllele": "G", "start": 5553 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526126.1:c.4366G>T" ], "proteinEffect": { "hgvs": "XP_011524428.1:p.Glu1456Ter", "hgvsWellDefined": "XP_011524428.1:p.Glu1456_Thr2243delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093233" }, { "coordinates": [ { "allele": "T", "end": 5531, "referenceAllele": "G", "start": 5530 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526127.1:c.5431G>T" ], "proteinEffect": { "hgvs": "XP_011524429.1:p.Glu1811Ter", "hgvsWellDefined": "XP_011524429.1:p.Glu1811_Arg1990delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093234" }, { "coordinates": [ { "allele": "T", "end": 5475, "referenceAllele": "G", "start": 5474 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_011526128.1:c.5375G>T" ], "proteinEffect": { "hgvs": "XP_011524430.1:p.Ter1792Leu", "hgvsWellDefined": "XP_011524430.1:p.Pro1791_Ter1792insLeuThrArg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093235" }, { "coordinates": [ { "allele": "T", "end": 5504, "referenceAllele": "G", "start": 5503 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_935244.1:n.5504G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130512" }, { "@id": "http://reg.genome.network/allele/PA3085535836", "coordinates": [ { "allele": "T", "end": 5494, "referenceAllele": "G", "start": 5493 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "NM_020964.3:c.5404G>T" ], "proteinEffect": { "hgvs": "NP_066015.2:p.Glu1802Ter", "hgvsWellDefined": "NP_066015.2:p.Glu1802_Arg2579delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnAlaLeuAsnAlaLeuGluSerMetAlaSerSerLysGlnTyrValGluTyrGlnAspGlnIleLeuGlnAlaThrGlnPheIleArgHisProGlyHisCysLeuGlnAspGlyLysSerPheLeuAlaLeuLeuValAsnCysLeuTyrProGluValHisTyrLeuAspHisIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526024", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000282041.11:c.5404G>T" }, "RefSeq": { "hgvs": "NM_020964.3:c.5404G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000282041.4:p.Glu1802Ter" }, "RefSeq": { "hgvs": "NP_066015.2:p.Glu1802Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5486, "referenceAllele": "G", "start": 5485 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025889.1:c.5404G>T" ], "proteinEffect": { "hgvs": "XP_016881378.1:p.Glu1802Ter", "hgvsWellDefined": "XP_016881378.1:p.Glu1802_Thr2588delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576123" }, { "coordinates": [ { "allele": "T", "end": 5486, "referenceAllele": "G", "start": 5485 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025890.2:c.5404G>T" ], "proteinEffect": { "hgvs": "XP_016881379.1:p.Glu1802Ter", "hgvsWellDefined": "XP_016881379.1:p.Glu1802_Val2544delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnValSerArgArgSerProPheLysArgLeuAlaLeuThrGlyValLeuGluSerGluLeuSerLeuAsnIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576124" }, { "coordinates": [ { "allele": "T", "end": 5363, "referenceAllele": "G", "start": 5362 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025891.1:c.5263G>T" ], "proteinEffect": { "hgvs": "XP_016881380.1:p.Glu1755Ter", "hgvsWellDefined": "XP_016881380.1:p.Glu1755_Thr2542delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576125" }, { "coordinates": [ { "allele": "T", "end": 5529, "referenceAllele": "G", "start": 5528 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025892.1:c.4339G>T" ], "proteinEffect": { "hgvs": "XP_016881381.1:p.Glu1447Ter", "hgvsWellDefined": "XP_016881381.1:p.Glu1447_Thr2234delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576126" }, { "coordinates": [ { "allele": "T", "end": 3376, "referenceAllele": "G", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XM_017025893.1:c.2029G>T" ], "proteinEffect": { "hgvs": "XP_016881382.1:p.Glu677Ter", "hgvsWellDefined": "XP_016881382.1:p.Glu677_Thr1464delinsProAspGluAspIleLeuMetProPheAsnLeuPheCysLysHisTrpThrTyrLeuLeuLeuTyrGlnPheProAspGlnTyrSerAspIleLeuArgLeuLeuMetGlnSerSerAlaGluGlnLeuLeuSerProGluCysTrpLysAlaThrLeuArgAlaLeuGlyCysCysAlaProSerCysGlnGlnGlyAlaAlaSerThrGluGlyAlaValLeuProSerSerSerAspAlaLeuLeuSerAspLysGlnValMetGluThrIleGlnTrpLeuSerAspPhePheTyrLysLeuArgLeuSerLysMetAspPheLysSerPheGlyLeuPheSerLysTrpSerProTyrMetAlaAspValLysThrPheLeuGlyTyrLeuValLysArgLeuIleAspLeuGluMetThrCysLeuAlaGlnAspProThrAlaSerArgLysThrValLeuLysSerLeuHisSerValIleIleGlnLeuPheLysProTrpIleLeuValLeuGluAspAsnGluSerSerGlnGlnArgHisTyrProTrpLeuGluSerAspThrValValAlaSerSerIleValGlnLeuPheThrAspCysIleAspSerLeuHisGluSerPheLysAspLysLeuLeuProGlyAspAlaGlyAlaLeuTrpLeuHisLeuMetHisTyrCysGluAlaCysThrAlaProLysMetProGluPheIleLeuTyrAlaPheHisSerThrTyrArgLysLeuProTrpLysAspLeuHisProAspGlnMetLeuMetGluAlaPhePheLysValGluArgGlySerProLysSerCysPheLeuPheLeuGlySerValLeuCysGluValAsnTrpValSerValLeuSerAspAlaTrpAsnSerSerProHisProGluThrArgSerMetIleValCysLeuLeuPheMetMetIleLeuLeuAlaLysGluValGlnLeuValAspGlnThrAspSerProLeuLeuSerLeuLeuGlyGlnThrSerSerLeuSerTrpHisLeuValAspIleValSerTyrGlnSerValLeuSerTyrPheSerSerHisTyrProProSerIleIleLeuAlaLysGluSerTyrAlaGluLeuIleMetLysLeuLeuLysValSerAlaGlyLeuSerIleProThrAspSerGlnLysHisLeuAspAlaValProLysCysGlnAlaPheThrHisGlnMetValGlnPheLeuSerThrLeuGluGlnAsnGlyLysIleThrLeuAlaValLeuGluGlnGluMetSerLysLeuLeuAspAspIleIleValPheAsnProProAspMetAspSerGlnThrArgHisMetAlaLeuSerSerLeuPheMetGluValLeuMetMetMetAsnAsnAlaThrIleProThrAlaGluPheLeuArgGlySerIleArgThrTrpIleGlyGlnLysMetHisGlyLeuValValLeuProLeuLeuThrAlaAlaCysGlnSerLeuAlaSerValArgHisMetAlaGluThrThrGluAlaCysIleThrAlaTyrPheLysGluSerProLeuAsnGlnAsnSerGlyTrpGlyProIleLeuValSerLeuGlnValProGluLeuThrMetGluGluPheLeuGlnGluCysLeuThrLeuGlySerTyrLeuThrLeuTyrValTyrLeuLeuGlnCysLeuAsnSerGluGlnThrLeuArgAsnGluMetLysValLeuLeuIleLeuSerLysTrpLeuGluGlnValTyrProSerSerValGluGluGluAlaLysLeuPheLeuTrpTrpHisGlnValLeuGlnLeuSerLeuIleGlnThrGluGlnAsnAspSerValLeuThrGluSerValIleArgIleLeuLeuLeuValGlnSerArgGlnAsnLeuValAlaGluGluArgLeuSerSerGlyIleLeuGlyAlaIleGlyPheGlyArgLysSerProLeuSerAsnArgPheArgValValAlaArgSerMetAlaAlaPheLeuSerValGlnValProMetGluAspGlnIleArgLeuArgProGlySerGluLeuHisLeuThrProLysAlaGlnGlnSerLeuProLeuLeuPheSerTyrTyrGluGluArgAsnAsnGlnAsnSerGlyValLysGluCysPheSerPheLeuProLeuLysArgGlyMetGluThrValSerAlaMetIleLeuCysHisLeuSerAspGlyPheGlyArgAsnLeuCysThrSerCysLeuLeuAlaAspLeuThrThrPheSerLeuThrLeuGlySerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576127" }, { "coordinates": [ { "allele": "T", "end": 5486, "referenceAllele": "G", "start": 5485 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753256.1:n.5486G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599808" }, { "coordinates": [ { "allele": "T", "end": 5430, "referenceAllele": "G", "start": 5429 } ], "gene": "http://reg.genome.network/gene/GN029331", "geneNCBI_id": 57724, "geneSymbol": "EPG5", "hgvs": [ "XR_001753257.1:n.5430G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599809" } ], "type": "nucleotide" }