{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115212", "communityStandardTitle": [ "NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2117199", "active": true, "id": "COSM2117199" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16862[alleleid]", "alleleId": 16862, "preferredName": "NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1823", "RCV": [ "RCV000001897", "RCV000454206" ], "variationId": 1823 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-109440214-C-T", "id": "1-109440214-C-T", "variant": "1:109440214 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.109440214C>T?assembly=hg19", "id": "chr1:g.109440214C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.108897592C>T?assembly=hg38", "id": "chr1:g.108897592C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267606854", "rs": 267606854 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-109440214-C-T?dataset=gnomad_r2_1", "id": "1-109440214-C-T", "variant": "1:109440214 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-108897592-C-T?dataset=gnomad_r3", "id": "1-108897592-C-T", "variant": "1:108897592 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-108897592-C-T?dataset=gnomad_r4", "id": "1-108897592-C-T", "variant": "1:108897592 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 108897592, "referenceAllele": "C", "start": 108897591 } ], "hgvs": [ "NC_000001.11:g.108897592C>T", "CM000663.2:g.108897592C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109440214, "referenceAllele": "C", "start": 109440213 } ], "hgvs": [ "NC_000001.10:g.109440214C>T", "CM000663.1:g.109440214C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 109241737, "referenceAllele": "C", "start": 109241736 } ], "hgvs": [ "NC_000001.9:g.109241737C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 25612, "referenceAllele": "C", "start": 25611 } ], "hgvs": [ "NG_028108.1:g.25612C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004076" }, { "coordinates": [ { "allele": "T", "end": 27243, "referenceAllele": "C", "start": 27242 } ], "hgvs": [ "NG_028108.2:g.27243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616281" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1968, "endIntronDirection": "-", "endIntronOffset": 15343, "referenceAllele": "G", "start": 1968, "startIntronDirection": "-", "startIntronOffset": 15344 } ], "gene": "http://reg.genome.network/gene/GN029675", "geneNCBI_id": 23155, "geneSymbol": "CLCC1", "hgvs": [ "ENST00000690509.1:c.*46-15344G>A" ], "proteinEffect": { "hgvs": "ENSP00000510142.1:n.*46-15344G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832732" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000264126.9:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000264126.3:p.Arg127Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742622", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264126.9:c.379C>T" }, "RefSeq": { "hgvs": "NM_013296.5:c.379C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264126.3:p.Arg127Ter" }, "RefSeq": { "hgvs": "NP_037428.3:p.Arg127Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 124, "endIntronDirection": "-", "endIntronOffset": 48015, "referenceAllele": "G", "start": 124, "startIntronDirection": "-", "startIntronOffset": 48016 } ], "gene": "http://reg.genome.network/gene/GN028398", "geneNCBI_id": 254268, "geneSymbol": "AKNAD1", "hgvs": [ "ENST00000357393.6:c.1-48016G>A" ], "proteinEffect": { "hgvs": "ENSP00000349968.6:n.1-48016G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS748936" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000441735.2:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000390629.2:p.Arg127Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS755867" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000446797.2:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000392138.2:p.Arg127Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS756096" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000642355.1:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000496104.1:p.Arg127Ter", "hgvsWellDefined": "ENSP00000496104.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766696" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000645164.2:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000496756.2:p.Arg127Ter", "hgvsWellDefined": "ENSP00000496756.2:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768205" }, { "coordinates": [ { "allele": "T", "end": 57, "referenceAllele": "C", "start": 56 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000645255.1:c.57C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768249" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000674700.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000501743.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000501743.1:p.Arg108_Arg519delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysArgIleGlnIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774627" }, { "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000674731.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000502401.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000502401.1:p.Arg108_Gln384delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyThrGluLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774654" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000674914.1:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000501579.1:p.Arg144Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774802" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675086.1:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000502476.1:p.Arg127Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774955" }, { "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675087.1:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000502020.1:p.Arg144Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774956" }, { "coordinates": [ { "allele": "T", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675617.1:n.941C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775410" }, { "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675776.1:n.874C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775548" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000675829.1:n.896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775597" }, { "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000676184.1:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000502178.1:p.Arg127Ter", "hgvsWellDefined": "ENSP00000502178.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775904" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000676404.1:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000502346.1:p.Arg108Ter", "hgvsWellDefined": "ENSP00000502346.1:p.Arg108_Asn465delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgValArgLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776091" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000264126.7:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000264126.3:p.Arg127Ter", "hgvsWellDefined": "ENSP00000264126.3:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251423" }, { "coordinates": [ { "allele": "A", "end": 124, "endIntronDirection": "-", "endIntronOffset": 48015, "referenceAllele": "G", "start": 124, "startIntronDirection": "-", "startIntronOffset": 48016 } ], "hgvs": [ "ENST00000357393.5:c.115-48016G>A" ], "proteinEffect": { "hgvs": "ENSP00000349968.5:n.115-48016G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS264086" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000406462.6:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000385510.1:p.Arg127Ter", "hgvsWellDefined": "ENSP00000385510.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280638" }, { "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "ENST00000435987.5:c.379C>T" ], "proteinEffect": { "hgvs": "ENSP00000408664.1:p.Arg127Ter", "hgvsWellDefined": "ENSP00000408664.1:p.Arg127Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS293764" }, { "@id": "http://reg.genome.network/allele/PA115213", "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_013296.4:c.379C>T" ], "proteinEffect": { "hgvs": "NP_037428.3:p.Arg127Ter", "hgvsWellDefined": "NP_037428.3:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032696" }, { "coordinates": [ { "allele": "T", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_005270787.2:c.379C>T" ], "proteinEffect": { "hgvs": "XP_005270844.1:p.Arg127Ter", "hgvsWellDefined": "XP_005270844.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066668" }, { "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "C", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_006710589.1:c.322C>T" ], "proteinEffect": { "hgvs": "XP_006710652.1:p.Arg108Ter", "hgvsWellDefined": "XP_006710652.1:p.Arg108_His665delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068696" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541301.1:c.379C>T" ], "proteinEffect": { "hgvs": "XP_011539603.1:p.Arg127Ter", "hgvsWellDefined": "XP_011539603.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108243" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541302.1:c.379C>T" ], "proteinEffect": { "hgvs": "XP_011539604.1:p.Arg127Ter", "hgvsWellDefined": "XP_011539604.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108244" }, { "coordinates": [ { "allele": "T", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541303.1:c.379C>T" ], "proteinEffect": { "hgvs": "XP_011539605.1:p.Arg127Ter", "hgvsWellDefined": "XP_011539605.1:p.Arg127_Ile458delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValLeuLysAsnGlnHisPheAsnValLeuIleMetArgIleHisSerMetHisLeuValGlnValLeuLysIleValGlnTyrThrLysLysAspIlePheLysGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108245" }, { "@id": "http://reg.genome.network/allele/PA2827067853", "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321038.1:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001307967.1:p.Arg127Ter", "hgvsWellDefined": "NP_001307967.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513987" }, { "@id": "http://reg.genome.network/allele/PA2827068106", "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321039.1:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001307968.1:p.Arg127Ter", "hgvsWellDefined": "NP_001307968.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513988" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_006710589.3:c.322C>T" ], "proteinEffect": { "hgvs": "XP_006710652.1:p.Arg108Ter", "hgvsWellDefined": "XP_006710652.1:p.Arg108_His665delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537823" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541301.2:c.379C>T" ], "proteinEffect": { "hgvs": "XP_011539603.1:p.Arg127Ter", "hgvsWellDefined": "XP_011539603.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554383" }, { "coordinates": [ { "allele": "T", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541302.3:c.379C>T" ], "proteinEffect": { "hgvs": "XP_011539604.1:p.Arg127Ter", "hgvsWellDefined": "XP_011539604.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554384" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_011541303.3:c.379C>T" ], "proteinEffect": { "hgvs": "XP_011539605.1:p.Arg127Ter", "hgvsWellDefined": "XP_011539605.1:p.Arg127_Ile458delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValLeuLysAsnGlnHisPheAsnValLeuIleMetArgIleHisSerMetHisLeuValGlnValLeuLysIleValGlnTyrThrLysLysAspIlePheLysGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554385" }, { "coordinates": [ { "allele": "T", "end": 1718, "referenceAllele": "C", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_017001097.2:c.379C>T" ], "proteinEffect": { "hgvs": "XP_016856586.1:p.Arg127Ter", "hgvsWellDefined": "XP_016856586.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557332" }, { "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "C", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "XM_017001098.2:c.379C>T" ], "proteinEffect": { "hgvs": "XP_016856587.1:p.Arg127Ter", "hgvsWellDefined": "XP_016856587.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557333" }, { "@id": "http://reg.genome.network/allele/PA115213", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_013296.5:c.379C>T" ], "proteinEffect": { "hgvs": "NP_037428.3:p.Arg127Ter", "hgvsWellDefined": "NP_037428.3:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264126.9:c.379C>T" }, "RefSeq": { "hgvs": "NM_013296.5:c.379C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264126.3:p.Arg127Ter" }, "RefSeq": { "hgvs": "NP_037428.3:p.Arg127Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827067853", "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321038.2:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001307967.1:p.Arg127Ter", "hgvsWellDefined": "NP_001307967.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685157" }, { "@id": "http://reg.genome.network/allele/PA2827068106", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321039.2:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001307968.1:p.Arg127Ter", "hgvsWellDefined": "NP_001307968.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685158" }, { "@id": "http://reg.genome.network/allele/PA2827068106", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN029501", "geneNCBI_id": 29899, "geneSymbol": "GPSM2", "hgvs": [ "NM_001321039.3:c.379C>T" ], "proteinEffect": { "hgvs": "NP_001307968.1:p.Arg127Ter", "hgvsWellDefined": "NP_001307968.1:p.Arg127_His684delinsHisLeuAspIleSerArgGluLeuAsnAspLysValGlyGluAlaArgAlaLeuTyrAsnLeuGlyAsnValTyrHisAlaLysGlyLysSerPheGlyCysProGlyProGlnAspValGlyGluPheProGluGluValArgAspAlaLeuGlnAlaAlaValAspPheTyrGluGluAsnLeuSerLeuValThrAlaLeuGlyAspArgAlaAlaGlnGlyArgAlaPheGlyAsnLeuGlyAsnThrHisTyrLeuLeuGlyAsnPheArgAspAlaValIleAlaHisGluGlnArgLeuLeuIleAlaLysGluPheGlyAspLysAlaAlaGluArgArgAlaTyrSerAsnLeuGlyAsnAlaTyrIlePheLeuGlyGluPheGluThrAlaSerGluTyrTyrLysLysThrLeuLeuLeuAlaArgGlnLeuLysAspArgAlaValGluAlaGlnSerCysTyrSerLeuGlyAsnThrTyrThrLeuLeuGlnAspTyrGluLysAlaIleAspTyrHisLeuLysHisLeuAlaIleAlaGlnGluLeuAsnAspArgIleGlyGluGlyArgAlaCysTrpSerLeuGlyAsnAlaTyrThrAlaLeuGlyAsnHisAspGlnAlaMetHisPheAlaGluLysHisLeuGluIleSerArgGluValGlyAspLysSerGlyGluLeuThrAlaArgLeuAsnLeuSerAspLeuGlnMetValLeuGlyLeuSerTyrSerThrAsnAsnSerIleMetSerGluAsnThrGluIleAspSerSerLeuAsnGlyValArgProLysLeuGlyArgArgHisSerMetGluAsnMetGluLeuMetLysLeuThrProGluLysValGlnAsnTrpAsnSerGluIleLeuAlaLysGlnLysProLeuIleAlaLysProSerAlaLysLeuLeuPheValAsnArgLeuLysGlyLysLysTyrLysThrAsnSerSerThrLysValLeuGlnAspAlaSerAsnSerIleAspHisArgIleProAsnSerGlnArgLysIleSerAlaAspThrIleGlyAspGluGlyPhePheAspLeuLeuSerArgPheGlnSerAsnArgMetAspAspGlnArgCysCysLeuGlnGluLysAsnCysHisThrAlaSerThrThrThrSerSerThrProProLysMetMetLeuLysThrSerSerValProValValSerProAsnThrAspGluPheLeuAspLeuLeuAlaSerSerGlnSerArgArgLeuAspAspGlnArgAlaSerPheSerAsnLeuProGlyLeuArgLeuThrGlnAsnSerGlnSerValLeuSerHisLeuMetThrAsnAspAsnLysGluAlaAspGluAspPhePheAspIleLeuValLysCysGlnGlySerArgLeuAspAspGlnArgCysAlaProProProAlaThrThrLysGlyProThrValProAspGluAspPhePheSerLeuIleLeuArgSerGlnGlyLysArgMetAspGluGlnArgValLeuLeuGlnArgAspGlnAsnArgAspThrAspPheGlyLeuLysAspPheLeuGlnAsnAsnAlaLeuLeuGluPheLysAsnSerGlyLysLysSerAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717891" } ], "type": "nucleotide" }