{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16619532", "communityStandardTitle": [ "NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408669[alleleid]", "alleleId": 408669, "preferredName": "NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422391", "RCV": [ "RCV000485301", "RCV001274001" ], "variationId": 422391 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48524175C>T?assembly=hg19", "id": "chr12:g.48524175C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48130392C>T?assembly=hg38", "id": "chr12:g.48130392C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795749", "rs": 1064795749 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48130392-C-T?dataset=gnomad_r4", "id": "12-48130392-C-T", "variant": "12:48130392 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48130392, "referenceAllele": "C", "start": 48130391 } ], "hgvs": [ "NC_000012.12:g.48130392C>T", "CM000674.2:g.48130392C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48524175, "referenceAllele": "C", "start": 48524174 } ], "hgvs": [ "NC_000012.11:g.48524175C>T", "CM000674.1:g.48524175C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 46810442, "referenceAllele": "C", "start": 46810441 } ], "hgvs": [ "NC_000012.10:g.46810442C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 29520, "referenceAllele": "C", "start": 29519 } ], "hgvs": [ "NG_016199.1:g.29520C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "T", "end": 30140, "referenceAllele": "C", "start": 30139 } ], "hgvs": [ "NG_016199.2:g.30140C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Arg113Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Arg113_Val854delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.328C>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg110Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg39Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.115C>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.115C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg39Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg39Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Arg39Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Arg39_Val694delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.6:c.223C>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.2:p.Arg75Ter", "hgvsWellDefined": "ENSP00000447997.2:p.Arg75_Met111del" }, "referenceSequence": "http://reg.genome.network/refseq/RS759954" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Arg39Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "T", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Arg39Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Arg39Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "C", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Arg142Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Arg39Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.328C>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg110Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg39Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS367208" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549366.5:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000449622.1:p.Arg142Ter", "hgvsWellDefined": "ENSP00000449622.1:p.Arg142_Gly165del" }, "referenceSequence": "http://reg.genome.network/refseq/RS367418" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.5:c.214C>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.1:p.Arg72Ter", "hgvsWellDefined": "ENSP00000446829.1:p.Arg72_Gly153del" }, "referenceSequence": "http://reg.genome.network/refseq/RS367750" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": 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"ENSP00000448177.1:p.Arg39_Val749delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "T", "end": 505, "referenceAllele": "C", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552792.5:c.328C>T" ], "proteinEffect": { "hgvs": "ENSP00000448940.1:p.Arg110Ter", "hgvsWellDefined": "ENSP00000448940.1:p.Arg110_Leu150del" }, "referenceSequence": "http://reg.genome.network/refseq/RS369448" }, { "coordinates": [ { "allele": "T", "end": 149, "endIntronDirection": "-", "endIntronOffset": 3846, "referenceAllele": "C", "start": 149, "startIntronDirection": "-", "startIntronOffset": 3847 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552989.5:c.86-3847C>T" ], "proteinEffect": { "hgvs": "ENSP00000447774.1:n.86-3847C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS369569" }, { "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "C", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000629846.2:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000486196.1:p.Arg39Ter", "hgvsWellDefined": "ENSP00000486196.1:p.Arg39_Cys102delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuLeuSerSerLeuLysIleHisGlyGlnLysPheAsnMetGlnCysLeuValLysAlaLeuProArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407281" }, { "@id": "http://reg.genome.network/allele/PA645510163", "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.115C>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg39Ter", "hgvsWellDefined": "NP_000280.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826033995", "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg110Ter", "hgvsWellDefined": "NP_001160158.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034443", "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg39Ter", "hgvsWellDefined": "NP_001160159.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826034900", "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg39Ter", "hgvsWellDefined": "NP_001160160.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Arg142Ter", "hgvsWellDefined": "XP_005269031.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Arg142Ter", "hgvsWellDefined": "XP_005269032.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.424C>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg142Ter", "hgvsWellDefined": "XP_005269033.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.328C>T" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Arg110Ter", "hgvsWellDefined": "XP_005269034.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.328C>T" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Arg110Ter", "hgvsWellDefined": "XP_005269035.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.328C>T" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Arg110Ter", "hgvsWellDefined": "XP_005269036.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Arg142Ter", "hgvsWellDefined": "XP_011536789.1:p.Arg142_Val852delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "T", "end": 141, "referenceAllele": "C", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Arg39Ter", "hgvsWellDefined": "XP_011536790.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA645510163", "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.115C>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg39Ter", "hgvsWellDefined": "NP_000280.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.115C>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.115C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg39Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg39Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826033995", "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg110Ter", "hgvsWellDefined": "NP_001160158.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929103", "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Arg142Ter", "hgvsWellDefined": "NP_001341664.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2827929568", "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Arg142Ter", "hgvsWellDefined": "NP_001341665.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827929892", "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Arg110Ter", "hgvsWellDefined": "NP_001341666.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930355", "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Arg110Ter", "hgvsWellDefined": "NP_001341667.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827930807", "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Arg110Ter", "hgvsWellDefined": "NP_001341668.1:p.Arg110_Val851delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA916039334", "coordinates": [ { "allele": "T", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.259C>T" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Arg87Ter", "hgvsWellDefined": "NP_001341669.1:p.Arg87_Val828delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931715", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg47Ter", "hgvsWellDefined": "NP_001341670.1:p.Arg47_Val788delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932165", "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341671.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932621", "coordinates": [ { "allele": "T", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341672.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933079", "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341673.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933520", "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg10Ter", "hgvsWellDefined": "NP_001341674.1:p.Arg10_Val751delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827933970", "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341675.1:p.Arg39_Val738delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "coordinates": [ { "allele": "T", "end": 260, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 260, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.10-924C>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:n.10-924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "coordinates": [ { "allele": "T", "end": 270, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 270, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.10-924C>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:n.10-924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100408", "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg39Ter", "hgvsWellDefined": "NP_001350548.1:p.Arg39_Val749delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "T", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.936C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "T", "end": 270, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 270, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.271-924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "T", "end": 270, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 270, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.271-924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "T", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.424C>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg142Ter", "hgvsWellDefined": "XP_005269033.1:p.Arg142_Val883delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.328C>T" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Arg110Ter", "hgvsWellDefined": "XP_016874958.1:p.Arg110_Val820delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.337C>T" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Arg113Ter", "hgvsWellDefined": "XP_024304788.1:p.Arg113_Val854delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.214C>T" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Arg72Ter", "hgvsWellDefined": "XP_024304789.1:p.Arg72_Val813delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Arg39Ter", "hgvsWellDefined": "XP_024304790.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034443", "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg39Ter", "hgvsWellDefined": "NP_001160159.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826034900", "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg39Ter", "hgvsWellDefined": "NP_001160160.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931715", "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.139C>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg47Ter", "hgvsWellDefined": "NP_001341670.1:p.Arg47_Val788delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932165", "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "C", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341671.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932621", "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341672.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933079", "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "C", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341673.1:p.Arg39_Val780delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933520", "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.28C>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg10Ter", "hgvsWellDefined": "NP_001341674.1:p.Arg10_Val751delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827933970", "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg39Ter", "hgvsWellDefined": "NP_001341675.1:p.Arg39_Val738delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "coordinates": [ { "allele": "T", "end": 160, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 160, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.10-924C>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:n.10-924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.10-924C>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:n.10-924C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100408", "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg39Ter", "hgvsWellDefined": "NP_001350548.1:p.Arg39_Val749delinsValGlyIlePheThrGlyAlaArgValPhePheValHisGluGlyTyrGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.137-924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 923, "referenceAllele": "C", "start": 136, "startIntronDirection": "-", "startIntronOffset": 924 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.137-924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }