{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4053145", "communityStandardTitle": [ "NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5922556", "active": true, "id": "COSM5922556" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5922557", "active": true, "id": "COSM5922557" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5922558", "active": true, "id": "COSM5922558" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5922559", "active": true, "id": "COSM5922559" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5922560", "active": true, "id": "COSM5922560" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268749[alleleid]", "alleleId": 268749, "preferredName": "NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284512", "RCV": [ "RCV000352027", "RCV000787308" ], "variationId": 284512 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-152470677-G-A", "id": "6-152470677-G-A", "variant": "6:152470677 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.152470677G>A?assembly=hg19", "id": "chr6:g.152470677G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.152149542G>A?assembly=hg38", "id": "chr6:g.152149542G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/760715690", "rs": 760715690 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152470677-G-A?dataset=gnomad_r2_1", "id": "6-152470677-G-A", "variant": "6:152470677 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152149542-G-A?dataset=gnomad_r3", "id": "6-152149542-G-A", "variant": "6:152149542 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152149542-G-A?dataset=gnomad_r4", "id": "6-152149542-G-A", "variant": "6:152149542 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 152149542, "referenceAllele": "G", "start": 152149541 } ], "hgvs": [ "NC_000006.12:g.152149542G>A", "CM000668.2:g.152149542G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 152470677, "referenceAllele": "G", "start": 152470676 } ], "hgvs": [ "NC_000006.11:g.152470677G>A", "CM000668.1:g.152470677G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 152512370, "referenceAllele": "G", "start": 152512369 } ], "hgvs": [ "NC_000006.10:g.152512370G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 492858, "referenceAllele": "C", "start": 492857 } ], "hgvs": [ "NG_012855.1:g.492858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002586" }, { "coordinates": [ { "allele": "T", "end": 492858, "referenceAllele": "C", "start": 492857 } ], "hgvs": [ "NG_012855.2:g.492858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673620" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000354674.5:c.1042C>T" ], "proteinEffect": { "hgvs": "ENSP00000346701.4:p.Arg348Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749966", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367255.10:c.24577C>T" }, "RefSeq": { "hgvs": "NM_182961.4:c.24577C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356224.5:p.Arg8193Ter" }, "RefSeq": { "hgvs": "NP_892006.3:p.Arg8193Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 24840, "referenceAllele": "C", "start": 24839 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000423061.6:c.24364C>T" ], "proteinEffect": { "hgvs": "ENSP00000396024.1:p.Arg8122Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754959" }, { "coordinates": [ { "allele": "T", "end": 93, "referenceAllele": "C", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000672154.1:c.93C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773292" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000672169.1:c.312C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773298" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000673173.1:c.491C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773604" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000673451.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000500189.1:p.Arg117Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263208" }, { "coordinates": [ { "allele": "T", "end": 3343, "referenceAllele": "C", "start": 3342 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367251.7:c.3343C>T" ], "proteinEffect": { "hgvs": "ENSP00000356220.3:p.Arg1115Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266289" }, { "coordinates": [ { "allele": "T", "end": 25179, "referenceAllele": "C", "start": 25178 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367255.9:c.24577C>T" ], "proteinEffect": { "hgvs": "ENSP00000356224.5:p.Arg8193Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266292" }, { "coordinates": [ { "allele": "T", "end": 8269, "referenceAllele": "C", "start": 8268 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367256.9:n.8269C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266293" }, { "coordinates": [ { "allele": "T", "end": 2515, "referenceAllele": "C", "start": 2514 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367257.8:c.2515C>T" ], "proteinEffect": { "hgvs": "ENSP00000356226.4:p.Arg839Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS266294" }, { "coordinates": [ { "allele": "T", "end": 8161, "referenceAllele": "C", "start": 8160 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000409694.6:n.8161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS281772" }, { "coordinates": [ { "allele": "T", "end": 24801, "referenceAllele": "C", "start": 24800 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000423061.5:c.24364C>T" ], "proteinEffect": { "hgvs": "ENSP00000396024.1:p.Arg8122Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS287575" }, { "coordinates": [ { "allele": "T", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000460912.6:n.1122C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305553" }, { "coordinates": [ { "allele": "T", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000536990.5:n.1414C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS360545" }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000539504.5:c.1042C>T" ], "proteinEffect": { "hgvs": "ENSP00000441052.1:p.Arg348Ter", "hgvsWellDefined": "ENSP00000441052.1:p.Arg349_Leu952delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361893" }, { "coordinates": [ { "allele": "T", "end": 24801, "referenceAllele": "C", "start": 24800 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_033071.3:c.24364C>T" ], "proteinEffect": { "hgvs": "NP_149062.1:p.Arg8122Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS039509" }, { "@id": "http://reg.genome.network/allele/PA645510555", "coordinates": [ { "allele": "T", "end": 25179, "referenceAllele": "C", "start": 25178 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_182961.3:c.24577C>T" ], "proteinEffect": { "hgvs": "NP_892006.3:p.Arg8193Ter", "hgvsWellDefined": "NP_892006.3:p.Arg8194_Leu8797delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044188" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715407.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715470.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071139" }, { "coordinates": [ { "allele": "T", "end": 25080, "referenceAllele": "C", "start": 25079 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715408.1:c.24601C>T" ], "proteinEffect": { "hgvs": "XP_006715471.1:p.Arg8201Ter", "hgvsWellDefined": "XP_006715471.1:p.Arg8202_Leu8842delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071140" }, { "coordinates": [ { "allele": "T", "end": 25071, "referenceAllele": "C", "start": 25070 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715409.1:c.24592C>T" ], "proteinEffect": { "hgvs": "XP_006715472.1:p.Arg8198Ter", "hgvsWellDefined": "XP_006715472.1:p.Arg8199_Leu8839delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071141" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715410.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715473.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071142" }, { "coordinates": [ { "allele": "T", "end": 25041, "referenceAllele": "C", "start": 25040 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715411.1:c.24562C>T" ], "proteinEffect": { "hgvs": "XP_006715474.1:p.Arg8188Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071143" }, { "coordinates": [ { "allele": "T", "end": 25077, "referenceAllele": "C", "start": 25076 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715412.1:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_006715475.1:p.Arg8200Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071144" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715413.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715476.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071145" }, { "coordinates": [ { "allele": "T", "end": 25020, "referenceAllele": "C", "start": 25019 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715414.1:c.24541C>T" ], "proteinEffect": { "hgvs": "XP_006715477.1:p.Arg8181Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071146" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715415.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715478.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071147" }, { "coordinates": [ { "allele": "T", "end": 25077, "referenceAllele": "C", "start": 25076 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715416.1:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_006715479.1:p.Arg8200Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071148" }, { "coordinates": [ { "allele": "T", "end": 24951, "referenceAllele": "C", "start": 24950 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715417.1:c.24472C>T" ], "proteinEffect": { "hgvs": "XP_006715480.1:p.Arg8158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071149" }, { "coordinates": [ { "allele": "T", "end": 24939, "referenceAllele": "C", "start": 24938 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715420.1:c.24460C>T" ], "proteinEffect": { "hgvs": "XP_006715483.1:p.Arg8154Ter", "hgvsWellDefined": "XP_006715483.1:p.Arg8155_Leu8795delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071150" }, { "coordinates": [ { "allele": "T", "end": 24936, "referenceAllele": "C", "start": 24935 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715421.1:c.24457C>T" ], "proteinEffect": { "hgvs": "XP_006715484.1:p.Arg8153Ter", "hgvsWellDefined": "XP_006715484.1:p.Arg8154_Leu8794delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071151" }, { "coordinates": [ { "allele": "T", "end": 24933, "referenceAllele": "C", "start": 24932 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715422.1:c.24454C>T" ], "proteinEffect": { "hgvs": "XP_006715485.1:p.Arg8152Ter", "hgvsWellDefined": "XP_006715485.1:p.Arg8153_Leu8793delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071152" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715423.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715486.1:p.Arg8205Ter", "hgvsWellDefined": "XP_006715486.1:p.Arg8206_Phe8758delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071153" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715424.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715487.1:p.Arg8205Ter", "hgvsWellDefined": "XP_006715487.1:p.Arg8206_Phe8744delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071154" }, { "coordinates": [ { "allele": "T", "end": 25092, "referenceAllele": "C", "start": 25091 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715425.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715488.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071155" }, { "coordinates": [ { "allele": "T", "end": 25089, "referenceAllele": "C", "start": 25088 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535641.1:c.24610C>T" ], "proteinEffect": { "hgvs": "XP_011533943.1:p.Arg8204Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102644" }, { "coordinates": [ { "allele": "T", "end": 25077, "referenceAllele": "C", "start": 25076 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535642.1:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_011533944.1:p.Arg8200Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102645" }, { "coordinates": [ { "allele": "T", "end": 24927, "referenceAllele": "C", "start": 24926 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535643.1:c.24448C>T" ], "proteinEffect": { "hgvs": "XP_011533945.1:p.Arg8150Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102646" }, { "coordinates": [ { "allele": "T", "end": 23143, "referenceAllele": "C", "start": 23142 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535644.1:c.22888C>T" ], "proteinEffect": { "hgvs": "XP_011533946.1:p.Arg7630Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102647" }, { "coordinates": [ { "allele": "T", "end": 22472, "referenceAllele": "C", "start": 22471 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535645.1:c.22381C>T" ], "proteinEffect": { "hgvs": "XP_011533947.1:p.Arg7461Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102648" }, { "coordinates": [ { "allele": "T", "end": 17848, "referenceAllele": "C", "start": 17847 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535647.1:c.17848C>T" ], "proteinEffect": { "hgvs": "XP_011533949.1:p.Arg5950Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102650" }, { "@id": "http://reg.genome.network/allele/PA2827402019", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_001347701.1:c.1183C>T" ], "proteinEffect": { "hgvs": "NP_001334630.1:p.Arg395Ter", "hgvsWellDefined": "NP_001334630.1:p.Arg396_Phe911delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517802" }, { "@id": "http://reg.genome.network/allele/PA2827402483", "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_001347702.1:c.1042C>T" ], "proteinEffect": { "hgvs": "NP_001334631.1:p.Arg348Ter", "hgvsWellDefined": "NP_001334631.1:p.Arg349_Leu975delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517803" }, { "coordinates": [ { "allele": "T", "end": 25084, "referenceAllele": "C", "start": 25083 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715408.2:c.24601C>T" ], "proteinEffect": { "hgvs": "XP_006715471.1:p.Arg8201Ter", "hgvsWellDefined": "XP_006715471.1:p.Arg8202_Leu8842delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538922" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715410.2:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715473.1:p.Arg8205Ter", "hgvsWellDefined": "XP_006715473.1:p.Arg8206_Leu8832delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538923" }, { "coordinates": [ { "allele": "T", "end": 25081, "referenceAllele": "C", "start": 25080 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715412.2:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_006715475.1:p.Arg8200Ter", "hgvsWellDefined": "XP_006715475.1:p.Arg8201_Leu8827delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538924" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715413.2:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715476.1:p.Arg8205Ter", "hgvsWellDefined": "XP_006715476.1:p.Arg8206_Leu8823delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538925" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715415.2:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715478.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538926" }, { "coordinates": [ { "allele": "T", "end": 25081, "referenceAllele": "C", "start": 25080 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715416.2:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_006715479.1:p.Arg8200Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538927" }, { "coordinates": [ { "allele": "T", "end": 24955, "referenceAllele": "C", "start": 24954 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715417.2:c.24472C>T" ], "proteinEffect": { "hgvs": "XP_006715480.1:p.Arg8158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538928" }, { "coordinates": [ { "allele": "T", "end": 24943, "referenceAllele": "C", "start": 24942 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715420.2:c.24460C>T" ], "proteinEffect": { "hgvs": "XP_006715483.1:p.Arg8154Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538929" }, { "coordinates": [ { "allele": "T", "end": 24940, "referenceAllele": "C", "start": 24939 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715421.2:c.24457C>T" ], "proteinEffect": { "hgvs": "XP_006715484.1:p.Arg8153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538930" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715423.2:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715486.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538931" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715424.2:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715487.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538932" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715425.2:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_006715488.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS538933" }, { "coordinates": [ { "allele": "T", "end": 25093, "referenceAllele": "C", "start": 25092 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535641.2:c.24610C>T" ], "proteinEffect": { "hgvs": "XP_011533943.1:p.Arg8204Ter", "hgvsWellDefined": "XP_011533943.1:p.Arg8205_Leu8845delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552111" }, { "coordinates": [ { "allele": "T", "end": 25081, "referenceAllele": "C", "start": 25080 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535642.2:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_011533944.1:p.Arg8200Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552112" }, { "coordinates": [ { "allele": "T", "end": 22536, "referenceAllele": "C", "start": 22535 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535645.2:c.22381C>T" ], "proteinEffect": { "hgvs": "XP_011533947.1:p.Arg7461Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552113" }, { "coordinates": [ { "allele": "T", "end": 25211, "referenceAllele": "C", "start": 25210 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010608.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_016866097.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564629" }, { "coordinates": [ { "allele": "T", "end": 25018, "referenceAllele": "C", "start": 25017 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010609.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_016866098.1:p.Arg8205Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564630" }, { "coordinates": [ { "allele": "T", "end": 24997, "referenceAllele": "C", "start": 24996 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010610.1:c.24592C>T" ], "proteinEffect": { "hgvs": "XP_016866099.1:p.Arg8198Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564631" }, { "coordinates": [ { "allele": "T", "end": 24855, "referenceAllele": "C", "start": 24854 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010611.2:c.24586C>T" ], "proteinEffect": { "hgvs": "XP_016866100.1:p.Arg8196Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564632" }, { "coordinates": [ { "allele": "T", "end": 24724, "referenceAllele": "C", "start": 24723 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010612.1:c.24535C>T" ], "proteinEffect": { "hgvs": "XP_016866101.1:p.Arg8179Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564633" }, { "coordinates": [ { "allele": "T", "end": 25093, "referenceAllele": "C", "start": 25092 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010613.1:c.24610C>T" ], "proteinEffect": { "hgvs": "XP_016866102.1:p.Arg8204Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564634" }, { "coordinates": [ { "allele": "T", "end": 24940, "referenceAllele": "C", "start": 24939 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010614.1:c.24457C>T" ], "proteinEffect": { "hgvs": "XP_016866103.1:p.Arg8153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564635" }, { "coordinates": [ { "allele": "T", "end": 24940, "referenceAllele": "C", "start": 24939 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010615.1:c.24457C>T" ], "proteinEffect": { "hgvs": "XP_016866104.1:p.Arg8153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564636" }, { "coordinates": [ { "allele": "T", "end": 25096, "referenceAllele": "C", "start": 25095 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010616.1:c.24613C>T" ], "proteinEffect": { "hgvs": "XP_016866105.1:p.Arg8205Ter", "hgvsWellDefined": "XP_016866105.1:p.Arg8206_Phe8735delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564637" }, { "coordinates": [ { "allele": "T", "end": 25093, "referenceAllele": "C", "start": 25092 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010617.1:c.24610C>T" ], "proteinEffect": { "hgvs": "XP_016866106.1:p.Arg8204Ter", "hgvsWellDefined": "XP_016866106.1:p.Arg8205_Phe8720delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564638" }, { "coordinates": [ { "allele": "T", "end": 25081, "referenceAllele": "C", "start": 25080 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010618.1:c.24598C>T" ], "proteinEffect": { "hgvs": "XP_016866107.1:p.Arg8200Ter", "hgvsWellDefined": "XP_016866107.1:p.Arg8201_Phe8716delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564639" }, { "coordinates": [ { "allele": "T", "end": 23175, "referenceAllele": "C", "start": 23174 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010619.1:c.22888C>T" ], "proteinEffect": { "hgvs": "XP_016866108.1:p.Arg7630Ter", "hgvsWellDefined": "XP_016866108.1:p.Arg7631_Leu8271delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564640" }, { "@id": "http://reg.genome.network/allele/PA645510555", "coordinates": [ { "allele": "T", "end": 25142, "referenceAllele": "C", "start": 25141 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_182961.4:c.24577C>T" ], "proteinEffect": { "hgvs": "NP_892006.3:p.Arg8193Ter", "hgvsWellDefined": "NP_892006.3:p.Arg8194_Leu8797delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673038", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367255.10:c.24577C>T" }, "RefSeq": { "hgvs": "NM_182961.4:c.24577C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356224.5:p.Arg8193Ter" }, "RefSeq": { "hgvs": "NP_892006.3:p.Arg8193Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827402019", "coordinates": [ { "allele": "T", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_001347701.2:c.1183C>T" ], "proteinEffect": { "hgvs": "NP_001334630.1:p.Arg395Ter", "hgvsWellDefined": "NP_001334630.1:p.Arg396_Phe911delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719051" }, { "@id": "http://reg.genome.network/allele/PA2827402483", "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_001347702.2:c.1042C>T" ], "proteinEffect": { "hgvs": "NP_001334631.1:p.Arg348Ter", "hgvsWellDefined": "NP_001334631.1:p.Arg349_Leu975delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719052", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354674.5:c.1042C>T" }, "RefSeq": { "hgvs": "NM_001347702.2:c.1042C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346701.4:p.Arg348Ter" }, "RefSeq": { "hgvs": "NP_001334631.1:p.Arg348Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830089368", "coordinates": [ { "allele": "T", "end": 24840, "referenceAllele": "C", "start": 24839 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_033071.5:c.24364C>T" ], "proteinEffect": { "hgvs": "NP_149062.2:p.Arg8122Ter", "hgvsWellDefined": "NP_149062.2:p.Arg8123_Leu8749delinsTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728908" } ], "type": "nucleotide" }