{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4053575", "communityStandardTitle": [ "NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861346[alleleid]", "alleleId": 861346, "preferredName": "NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873271", "RCV": [ "RCV001095483" ], "variationId": 873271 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-152497632-G-A", "id": "6-152497632-G-A", "variant": "6:152497632 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.152497632G>A?assembly=hg19", "id": "chr6:g.152497632G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.152176497G>A?assembly=hg38", "id": "chr6:g.152176497G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775935265", "rs": 775935265 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152497632-G-A?dataset=gnomad_r2_1", "id": "6-152497632-G-A", "variant": "6:152497632 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-152176497-G-A?dataset=gnomad_r4", "id": "6-152176497-G-A", "variant": "6:152176497 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 152176497, "referenceAllele": "G", "start": 152176496 } ], "hgvs": [ "NC_000006.12:g.152176497G>A", "CM000668.2:g.152176497G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 152497632, "referenceAllele": "G", "start": 152497631 } ], "hgvs": [ "NC_000006.11:g.152497632G>A", "CM000668.1:g.152497632G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 152539325, "referenceAllele": "G", "start": 152539324 } ], "hgvs": [ "NC_000006.10:g.152539325G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 465903, "referenceAllele": "C", "start": 465902 } ], "hgvs": [ "NG_012855.1:g.465903C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002586" }, { "coordinates": [ { "allele": "T", "end": 465903, "referenceAllele": "C", "start": 465902 } ], "hgvs": [ "NG_012855.2:g.465903C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673620" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 24089, "referenceAllele": "C", "start": 24088 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367255.10:c.23524C>T" ], "proteinEffect": { "hgvs": "ENSP00000356224.5:p.Arg7842Ter", "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.23524C>T" }, "RefSeq": { "hgvs": "NM_182961.4:c.23524C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356224.5:p.Arg7842Ter" }, "RefSeq": { "hgvs": "NP_892006.3:p.Arg7842Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 23787, "referenceAllele": "C", "start": 23786 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000423061.6:c.23311C>T" ], "proteinEffect": { "hgvs": "ENSP00000396024.1:p.Arg7771Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754959" }, { "coordinates": [ { "allele": "T", "end": 22962, "referenceAllele": "C", "start": 22961 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000341594.9:c.22309C>T" ], "proteinEffect": { "hgvs": "ENSP00000341887.6:p.Arg7437Ter", "hgvsWellDefined": "ENSP00000341887.6:p.Arg7437_Leu8392delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261371" }, { "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000347037.9:n.203C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS262323" }, { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "C", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367251.7:c.2290C>T" ], "proteinEffect": { "hgvs": "ENSP00000356220.3:p.Arg764Ter", "hgvsWellDefined": "ENSP00000356220.3:p.Arg764_Phe1654delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266289" }, { "coordinates": [ { "allele": "T", "end": 24126, "referenceAllele": "C", "start": 24125 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367255.9:c.23524C>T" ], "proteinEffect": { "hgvs": "ENSP00000356224.5:p.Arg7842Ter", "hgvsWellDefined": "ENSP00000356224.5:p.Arg7842_Leu8797delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266292" }, { "coordinates": [ { "allele": "T", "end": 7216, "referenceAllele": "C", "start": 7215 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367256.9:n.7216C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266293" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000367257.8:c.1462C>T" ], "proteinEffect": { "hgvs": "ENSP00000356226.4:p.Arg488Ter", "hgvsWellDefined": "ENSP00000356226.4:p.Arg488_Phe1355delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266294" }, { "coordinates": [ { "allele": "T", "end": 7108, "referenceAllele": "C", "start": 7107 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000409694.6:n.7108C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS281772" }, { "coordinates": [ { "allele": "T", "end": 23748, "referenceAllele": "C", "start": 23747 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000423061.5:c.23311C>T" ], "proteinEffect": { "hgvs": "ENSP00000396024.1:p.Arg7771Ter", "hgvsWellDefined": "ENSP00000396024.1:p.Arg7771_Leu8749delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287575" }, { "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "ENST00000536990.5:n.361C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS360545" }, { "coordinates": [ { "allele": "T", "end": 23748, "referenceAllele": "C", "start": 23747 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_033071.3:c.23311C>T" ], "proteinEffect": { "hgvs": "NP_149062.1:p.Arg7771Ter", "hgvsWellDefined": "NP_149062.1:p.Arg7771_Leu8749delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039509" }, { "@id": "http://reg.genome.network/allele/PA1139757291", "coordinates": [ { "allele": "T", "end": 24126, "referenceAllele": "C", "start": 24125 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_182961.3:c.23524C>T" ], "proteinEffect": { "hgvs": "NP_892006.3:p.Arg7842Ter", "hgvsWellDefined": "NP_892006.3:p.Arg7842_Leu8797delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044188" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715407.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715470.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715470.1:p.Arg7854_Leu8846delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071139" }, { "coordinates": [ { "allele": "T", "end": 24027, "referenceAllele": "C", "start": 24026 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715408.1:c.23548C>T" ], "proteinEffect": { "hgvs": "XP_006715471.1:p.Arg7850Ter", "hgvsWellDefined": "XP_006715471.1:p.Arg7850_Leu8842delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071140" }, { "coordinates": [ { "allele": "T", "end": 24018, "referenceAllele": "C", "start": 24017 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715409.1:c.23539C>T" ], "proteinEffect": { "hgvs": "XP_006715472.1:p.Arg7847Ter", "hgvsWellDefined": "XP_006715472.1:p.Arg7847_Leu8839delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071141" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715410.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715473.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715473.1:p.Arg7854_Leu8832delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071142" }, { "coordinates": [ { "allele": "T", "end": 23988, "referenceAllele": "C", "start": 23987 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715411.1:c.23509C>T" ], "proteinEffect": { "hgvs": "XP_006715474.1:p.Arg7837Ter", "hgvsWellDefined": "XP_006715474.1:p.Arg7837_Leu8829delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071143" }, { "coordinates": [ { "allele": "T", "end": 24024, "referenceAllele": "C", "start": 24023 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715412.1:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_006715475.1:p.Arg7849Ter", "hgvsWellDefined": "XP_006715475.1:p.Arg7849_Leu8827delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071144" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715413.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715476.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715476.1:p.Arg7854_Leu8823delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071145" }, { "coordinates": [ { "allele": "T", "end": 23967, "referenceAllele": "C", "start": 23966 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715414.1:c.23488C>T" ], "proteinEffect": { "hgvs": "XP_006715477.1:p.Arg7830Ter", "hgvsWellDefined": "XP_006715477.1:p.Arg7830_Leu8822delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071146" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715415.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715478.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715478.1:p.Arg7854_Leu8809delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071147" }, { "coordinates": [ { "allele": "T", "end": 24024, "referenceAllele": "C", "start": 24023 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715416.1:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_006715479.1:p.Arg7849Ter", "hgvsWellDefined": "XP_006715479.1:p.Arg7849_Leu8804delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071148" }, { "coordinates": [ { "allele": "T", "end": 23898, "referenceAllele": "C", "start": 23897 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715417.1:c.23419C>T" ], "proteinEffect": { "hgvs": "XP_006715480.1:p.Arg7807Ter", "hgvsWellDefined": "XP_006715480.1:p.Arg7807_Leu8799delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071149" }, { "coordinates": [ { "allele": "T", "end": 23886, "referenceAllele": "C", "start": 23885 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715420.1:c.23407C>T" ], "proteinEffect": { "hgvs": "XP_006715483.1:p.Arg7803Ter", "hgvsWellDefined": "XP_006715483.1:p.Arg7803_Leu8795delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071150" }, { "coordinates": [ { "allele": "T", "end": 23883, "referenceAllele": "C", "start": 23882 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715421.1:c.23404C>T" ], "proteinEffect": { "hgvs": "XP_006715484.1:p.Arg7802Ter", "hgvsWellDefined": "XP_006715484.1:p.Arg7802_Leu8794delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071151" }, { "coordinates": [ { "allele": "T", "end": 23880, "referenceAllele": "C", "start": 23879 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715422.1:c.23401C>T" ], "proteinEffect": { "hgvs": "XP_006715485.1:p.Arg7801Ter", "hgvsWellDefined": "XP_006715485.1:p.Arg7801_Leu8793delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071152" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715423.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715486.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715486.1:p.Arg7854_Phe8758delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071153" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715424.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715487.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715487.1:p.Arg7854_Phe8744delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071154" }, { "coordinates": [ { "allele": "T", "end": 24039, "referenceAllele": "C", "start": 24038 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715425.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715488.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715488.1:p.Arg7854_Phe8721delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071155" }, { "coordinates": [ { "allele": "T", "end": 24036, "referenceAllele": "C", "start": 24035 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535641.1:c.23557C>T" ], "proteinEffect": { "hgvs": "XP_011533943.1:p.Arg7853Ter", "hgvsWellDefined": "XP_011533943.1:p.Arg7853_Leu8845delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102644" }, { "coordinates": [ { "allele": "T", "end": 24024, "referenceAllele": "C", "start": 24023 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535642.1:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_011533944.1:p.Arg7849Ter", "hgvsWellDefined": "XP_011533944.1:p.Arg7849_Leu8841delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102645" }, { "coordinates": [ { "allele": "T", "end": 23874, "referenceAllele": "C", "start": 23873 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535643.1:c.23395C>T" ], "proteinEffect": { "hgvs": "XP_011533945.1:p.Arg7799Ter", "hgvsWellDefined": "XP_011533945.1:p.Arg7799_Leu8791delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102646" }, { "coordinates": [ { "allele": "T", "end": 22090, "referenceAllele": "C", "start": 22089 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535644.1:c.21835C>T" ], "proteinEffect": { "hgvs": "XP_011533946.1:p.Arg7279Ter", "hgvsWellDefined": "XP_011533946.1:p.Arg7279_Leu8271delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102647" }, { "coordinates": [ { "allele": "T", "end": 21419, "referenceAllele": "C", "start": 21418 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535645.1:c.21328C>T" ], "proteinEffect": { "hgvs": "XP_011533947.1:p.Arg7110Ter", "hgvsWellDefined": "XP_011533947.1:p.Arg7110_Leu8102delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102648" }, { "coordinates": [ { "allele": "T", "end": 16795, "referenceAllele": "C", "start": 16794 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535647.1:c.16795C>T" ], "proteinEffect": { "hgvs": "XP_011533949.1:p.Arg5599Ter", "hgvsWellDefined": "XP_011533949.1:p.Arg5599_Leu6591delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102650" }, { "@id": "http://reg.genome.network/allele/PA2827401827", "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_001347701.1:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001334630.1:p.Arg44Ter", "hgvsWellDefined": "NP_001334630.1:p.Arg44_Phe911delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517802" }, { "coordinates": [ { "allele": "T", "end": 24031, "referenceAllele": "C", "start": 24030 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715408.2:c.23548C>T" ], "proteinEffect": { "hgvs": "XP_006715471.1:p.Arg7850Ter", "hgvsWellDefined": "XP_006715471.1:p.Arg7850_Leu8842delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538922" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715410.2:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715473.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715473.1:p.Arg7854_Leu8832delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538923" }, { "coordinates": [ { "allele": "T", "end": 24028, "referenceAllele": "C", "start": 24027 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715412.2:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_006715475.1:p.Arg7849Ter", "hgvsWellDefined": "XP_006715475.1:p.Arg7849_Leu8827delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538924" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715413.2:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715476.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715476.1:p.Arg7854_Leu8823delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538925" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715415.2:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715478.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715478.1:p.Arg7854_Leu8809delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538926" }, { "coordinates": [ { "allele": "T", "end": 24028, "referenceAllele": "C", "start": 24027 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715416.2:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_006715479.1:p.Arg7849Ter", "hgvsWellDefined": "XP_006715479.1:p.Arg7849_Leu8804delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538927" }, { "coordinates": [ { "allele": "T", "end": 23902, "referenceAllele": "C", "start": 23901 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715417.2:c.23419C>T" ], "proteinEffect": { "hgvs": "XP_006715480.1:p.Arg7807Ter", "hgvsWellDefined": "XP_006715480.1:p.Arg7807_Leu8799delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538928" }, { "coordinates": [ { "allele": "T", "end": 23890, "referenceAllele": "C", "start": 23889 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715420.2:c.23407C>T" ], "proteinEffect": { "hgvs": "XP_006715483.1:p.Arg7803Ter", "hgvsWellDefined": "XP_006715483.1:p.Arg7803_Leu8795delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538929" }, { "coordinates": [ { "allele": "T", "end": 23887, "referenceAllele": "C", "start": 23886 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715421.2:c.23404C>T" ], "proteinEffect": { "hgvs": "XP_006715484.1:p.Arg7802Ter", "hgvsWellDefined": "XP_006715484.1:p.Arg7802_Leu8794delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538930" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715423.2:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715486.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715486.1:p.Arg7854_Phe8758delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538931" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715424.2:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715487.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715487.1:p.Arg7854_Phe8744delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538932" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_006715425.2:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_006715488.1:p.Arg7854Ter", "hgvsWellDefined": "XP_006715488.1:p.Arg7854_Phe8721delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538933" }, { "coordinates": [ { "allele": "T", "end": 24040, "referenceAllele": "C", "start": 24039 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535641.2:c.23557C>T" ], "proteinEffect": { "hgvs": "XP_011533943.1:p.Arg7853Ter", "hgvsWellDefined": "XP_011533943.1:p.Arg7853_Leu8845delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552111" }, { "coordinates": [ { "allele": "T", "end": 24028, "referenceAllele": "C", "start": 24027 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535642.2:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_011533944.1:p.Arg7849Ter", "hgvsWellDefined": "XP_011533944.1:p.Arg7849_Leu8841delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552112" }, { "coordinates": [ { "allele": "T", "end": 21483, "referenceAllele": "C", "start": 21482 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_011535645.2:c.21328C>T" ], "proteinEffect": { "hgvs": "XP_011533947.1:p.Arg7110Ter", "hgvsWellDefined": "XP_011533947.1:p.Arg7110_Leu8102delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552113" }, { "coordinates": [ { "allele": "T", "end": 24158, "referenceAllele": "C", "start": 24157 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010608.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_016866097.1:p.Arg7854Ter", "hgvsWellDefined": "XP_016866097.1:p.Arg7854_Leu8846delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564629" }, { "coordinates": [ { "allele": "T", "end": 23965, "referenceAllele": "C", "start": 23964 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010609.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_016866098.1:p.Arg7854Ter", "hgvsWellDefined": "XP_016866098.1:p.Arg7854_Leu8846delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564630" }, { "coordinates": [ { "allele": "T", "end": 23944, "referenceAllele": "C", "start": 23943 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010610.1:c.23539C>T" ], "proteinEffect": { "hgvs": "XP_016866099.1:p.Arg7847Ter", "hgvsWellDefined": "XP_016866099.1:p.Arg7847_Leu8839delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564631" }, { "coordinates": [ { "allele": "T", "end": 23802, "referenceAllele": "C", "start": 23801 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010611.2:c.23533C>T" ], "proteinEffect": { "hgvs": "XP_016866100.1:p.Arg7845Ter", "hgvsWellDefined": "XP_016866100.1:p.Arg7845_Leu8837delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564632" }, { "coordinates": [ { "allele": "T", "end": 23671, "referenceAllele": "C", "start": 23670 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010612.1:c.23482C>T" ], "proteinEffect": { "hgvs": "XP_016866101.1:p.Arg7828Ter", "hgvsWellDefined": "XP_016866101.1:p.Arg7828_Leu8820delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564633" }, { "coordinates": [ { "allele": "T", "end": 24040, "referenceAllele": "C", "start": 24039 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010613.1:c.23557C>T" ], "proteinEffect": { "hgvs": "XP_016866102.1:p.Arg7853Ter", "hgvsWellDefined": "XP_016866102.1:p.Arg7853_Leu8808delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564634" }, { "coordinates": [ { "allele": "T", "end": 23887, "referenceAllele": "C", "start": 23886 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010614.1:c.23404C>T" ], "proteinEffect": { "hgvs": "XP_016866103.1:p.Arg7802Ter", "hgvsWellDefined": "XP_016866103.1:p.Arg7802_Leu8794delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564635" }, { "coordinates": [ { "allele": "T", "end": 23887, "referenceAllele": "C", "start": 23886 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010615.1:c.23404C>T" ], "proteinEffect": { "hgvs": "XP_016866104.1:p.Arg7802Ter", "hgvsWellDefined": "XP_016866104.1:p.Arg7802_Leu8757delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564636" }, { "coordinates": [ { "allele": "T", "end": 24043, "referenceAllele": "C", "start": 24042 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010616.1:c.23560C>T" ], "proteinEffect": { "hgvs": "XP_016866105.1:p.Arg7854Ter", "hgvsWellDefined": "XP_016866105.1:p.Arg7854_Phe8735delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564637" }, { "coordinates": [ { "allele": "T", "end": 24040, "referenceAllele": "C", "start": 24039 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010617.1:c.23557C>T" ], "proteinEffect": { "hgvs": "XP_016866106.1:p.Arg7853Ter", "hgvsWellDefined": "XP_016866106.1:p.Arg7853_Phe8720delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564638" }, { "coordinates": [ { "allele": "T", "end": 24028, "referenceAllele": "C", "start": 24027 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010618.1:c.23545C>T" ], "proteinEffect": { "hgvs": "XP_016866107.1:p.Arg7849Ter", "hgvsWellDefined": "XP_016866107.1:p.Arg7849_Phe8716delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564639" }, { "coordinates": [ { "allele": "T", "end": 22122, "referenceAllele": "C", "start": 22121 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "XM_017010619.1:c.21835C>T" ], "proteinEffect": { "hgvs": "XP_016866108.1:p.Arg7279Ter", "hgvsWellDefined": "XP_016866108.1:p.Arg7279_Leu8271delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnIlePheThrGlyGlnValGlyArgProPheLeuAsnIleLysGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564640" }, { "@id": "http://reg.genome.network/allele/PA1139757291", "coordinates": [ { "allele": "T", "end": 24089, "referenceAllele": "C", "start": 24088 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_182961.4:c.23524C>T" ], "proteinEffect": { "hgvs": "NP_892006.3:p.Arg7842Ter", "hgvsWellDefined": "NP_892006.3:p.Arg7842_Leu8797delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673038", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367255.10:c.23524C>T" }, "RefSeq": { "hgvs": "NM_182961.4:c.23524C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356224.5:p.Arg7842Ter" }, "RefSeq": { "hgvs": "NP_892006.3:p.Arg7842Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827401827", "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_001347701.2:c.130C>T" ], "proteinEffect": { "hgvs": "NP_001334630.1:p.Arg44Ter", "hgvsWellDefined": "NP_001334630.1:p.Arg44_Phe911delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719051" }, { "@id": "http://reg.genome.network/allele/PA2830089006", "coordinates": [ { "allele": "T", "end": 23787, "referenceAllele": "C", "start": 23786 } ], "gene": "http://reg.genome.network/gene/GN017089", "geneNCBI_id": 23345, "geneSymbol": "SYNE1", "hgvs": [ "NM_033071.5:c.23311C>T" ], "proteinEffect": { "hgvs": "NP_149062.2:p.Arg7771Ter", "hgvsWellDefined": "NP_149062.2:p.Arg7771_Leu8749delinsLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerAspValMetIleProGluSerProGluAlaTyrValLysLeuThrGluAsnAlaIleLysAsnThrSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728908" } ], "type": "nucleotide" }